Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw.1	CADD_raw_rankscore	CADD_phred.1	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds.1	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES952	WT	HH	HZ	NC
chr1	1046008	1046008	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon16:c.G2725A:p.G909S,	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	822420	Congenital_myasthenic_syndrome_8	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.275	M	-1.0	T	0.237	D	0.588	D	0.724	4.129	21.3	5.46	2.548	4.395	17.468	0.438	0.185145956978	7.7e-05	.	2.494e-05	0	0	0.0002	0	1.518e-05	0	0	1.94e-05	3	154602	rs368433481	3.352e-05	3.352e-05	3.131e-05	3.576e-05	0.0003	2.566e-05	2.312e-05	0.0001	0.0001	0	0	0	0.0003	0	0	2.518e-05	0.0001	2.319e-05	2.628e-05	2.627e-05	1.284e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	0.000003	0.62929	D	0.000000	1	0.81001	D	2.94	0.84723	M	-1.0	0.76037	T	-4.82	0.80851	D	0.759	0.76388	0.237	0.86535	D	0.588	0.85224	D	10	0.78615904	0.78265	D	0.185146	0.85794	D	0.438	0.74235	.	.	0.829715715799	0.82809	0.6754039519508778	0.67478	0.489955808689	0.47747	0.658525705338	0.61198	T	.	.	.	0.00641046	0.52535	T	0.0802993	0.75598	D	0.889627873897552	0.54035	D	0.944206	0.78893	D	.	.	.	.	.	.	.	.	-9.623	0.71622	D	.	.	0.162	0.46574	B	.;.	.;.	3.899010	0.56784	23.8	0.99828681633001426	0.91026	0.97980	0.78604	D	AEFDGBI	0.719695	0.67050	D	0.52826671879736	0.68767	5.262893	0.418945959560385	0.62747	4.495285	0.999999999965619	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	7.165000	0.77109	11.741000	0.95195	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	17.468	0.87530	940	0.13648	.;Factor I / membrane attack complex|EGF-like domain|Follistatin-like, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2111.98	62	chr1	1046008	.	G	A	2111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=1452;ExcessHet=0.0000;FS=3.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=0.107;SOR=1.048	GT:AD:DP:GQ:PL	0/1:77,77:154:99:2126,0,1864	20	0	1	0
chr1	1046670	1046670	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon18:c.G3185A:p.S1062N,	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	822431	Inborn_genetic_diseases|Congenital_myasthenic_syndrome_8	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.259	B	0.078	B	0.000	D	0.990	D	1.905	M	-1.21	T	-0.446	T	0.352	T	0.111	1.789	11.94	3.45	1.066	6.355	12.187	0.302	0.2113149665	.	.	2.052e-05	0	0	0.0003	0	0	0	0	1.29e-05	2	154602	rs751833707	8.339e-06	1.094e-05	5.527e-06	1.118e-05	0.0003	4.45e-06	3.51e-06	0.0001	0.0001	0	0	0	0.0003	0	0	0	3.339e-05	0	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.02	0.49613	D	0.005	0.72224	D	.	.	.	.	.	.	0.000007	0.62929	D	0.060927	0.990193	0.41107	D	2.24	0.63355	M	-1.21	0.78645	T	-1.7	0.40468	N	0.485	0.59223	-0.4463	0.70522	T	0.352	0.71557	T	10	0.34008327	0.51083	T	0.211315	0.87298	D	0.302	0.62290	0.091	0.01065	0.839894343975	0.83837	0.5831759189335557	0.58246	0.214022663997	0.23940	0.687483787537	0.65343	T	.	.	.	-0.08401	0.39062	T	-0.358451	0.38231	T	0.170826295753135	0.18636	T	0.849815	0.53298	T	.	.	.	.	.	.	.	.	-6.762	0.52276	T	.	.	0.377	0.62883	A	.;.	.;.	3.614702	0.51120	23.0	0.98638713103903419	0.44015	0.98739	0.86233	D	AEFDGBI	0.631010	0.61214	D	-0.115886181708536	0.36701	2.124945	-0.0892246398334525	0.35835	2.077928	0.997284466896083	0.35456	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.36	3.45	0.38602	5.331000	0.65681	9.678000	0.81237	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.032000	0.13371	0.0831:0.0:0.9169:0.0	12.187	0.53554	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	968.98	36	chr1	1046670	.	G	A	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.953e+00;DP=892;ExcessHet=0.0000;FS=2.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-1.135e+00;SOR=1.000	GT:AD:DP:GQ:PL	0/1:52,39:91:99:983,0,1534	20	0	1	0
chr1	1214100	1214100	G	A	exonic	TNFRSF4	.	nonsynonymous SNV	TNFRSF4:NM_003327:exon1:c.C28T:p.R10C,	.	.	377	1075	66	4	0	74	0.0332734	.	.	447262	Combined_immunodeficiency_due_to_OX40_deficiency|TNFRSF4-related_disorder	MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593,Orphanet:431149|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	0.981	D	0.265	B	0.002	N	1.000	N	1.24	L	-0.02	T	-0.903	T	0.129	T	0.276	1.914	12.36	2.21	0.667	-0.921	6.235	0.118	.	0.0053	0.00519169	0.0151	0.0038	0.0060	0	0.0120	0.0141	0.0087	0.0318	0.0070504	1090	154602	rs35304565	0.0080	0.0080	0.0075	0.0085	0.0244	0.0079	0.0078	0.0235	0.0231	0.0015	0.0033	0.0093	5.145e-05	0.0058	0.0213	0.0074	0.0088	0.0244	0.0053	0.0053	0.0053	0.0052	0.0193	0.0050	0.0048	0.0161	0.0149	0.0018	0.0011	0.0056	0.0078	0	0.0040	0.0034	0.0068	0.0080	0.0193	0.007	0.59928	D	0.011	0.64786	D	0.981	0.59675	D	0.265	0.39681	B	0.001714	0.00817	N	4.085850	1	0.08975	N	0.895	0.22405	L	-0.02	0.62918	T	-2.58	0.55662	D	0.164	0.17278	-0.9026	0.47717	T	0.129	0.43848	T	10	0.0057964325	0.00129	T	.	.	.	0.118	0.32913	.	.	0.623996689363	0.62094	0.8368611785807644	0.83646	0.200386560108	0.22444	0.452319145203	0.32260	T	0.385507	0.74689	T	-0.476144	0.00779	T	-0.4378	0.29056	T	0.016484515701066	0.00413	T	0.526647	0.17353	T	0.17434712	0.38234	0.07939246	0.17868	0.1872518	0.40170	0.064411104	0.12905	-4.77	0.34240	T	.	.	0.341	0.56005	A	.	.	2.123526	0.27030	17.32	0.98421705000658088	0.41288	0.04202	0.09711	N	AEFDBCI	0.094465	0.19100	N	-0.538297404145678	0.20852	1.10236	-0.713258259078068	0.16631	0.8807004	0.999652904049022	0.41424	0.495158	0.18159	0	0.616935	0.53198	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.14	2.21	0.27042	-0.340000	0.07868	-5.498000	0.01697	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1456:0.0:0.8544:0.0	6.235	0.19967	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3781.68	36	chr1	1214100	.	G	A	3781.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.110e-01;DP=932;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-8.580e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:29,31:60:99:763,0,602	18	0	3	0
chr1	1243491	1243491	G	A	exonic	C1QTNF12	.	nonsynonymous SNV	C1QTNF12:NM_001014980:exon5:c.C593T:p.T198M,	.	.	393	1128	1	0	0	1	0.000443066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.973	D	0.000	D	0.999	D	3.02	M	0.83	T	-0.512	T	0.292	T	0.527	2.338	13.78	2.91	0.974	6.307	7.252	0.271	0.312503995228	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1423766013	1.42e-05	4.378e-05	5.616e-06	2.299e-05	0.0001	9.28e-06	7.54e-06	8.545e-05	6.668e-05	0	2.657e-05	0	0	0	0	6.456e-06	0	0.0001	3.285e-05	3.283e-05	2.57e-05	4.035e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	6.541e-05	0	0	0	0	0	0	0.0008	0.015	0.52492	D	0.006	0.70582	D	1.0	0.90584	D	0.973	0.72923	D	0.000009	0.62929	D	0.062798	0.998791	0.45457	D	.	.	.	0.83	0.47815	T	-4.47	0.77881	D	0.808	0.80375	-0.5125	0.68195	T	0.292	0.66364	T	10	0.8629396	0.85523	D	0.312504	0.91229	D	0.271	0.58633	0.631	0.76699	0.45235992198	0.44860	0.7277076353197619	0.72714	0.421377757999	0.42644	0.688608884811	0.65506	T	0.286314	0.65910	T	-0.0146241	0.49616	T	-0.258783	0.48947	T	0.941127479076385	0.61408	D	0.90061	0.65471	D	0.15868181	0.35686	0.14788392	0.34979	0.15868181	0.35686	0.14788392	0.34978	-8.623	0.65241	D	.	.	0.107	0.19998	B	.	.	4.149218	0.62223	24.4	0.99804511605201052	0.88906	0.93717	0.58990	D	AEFDBI	0.759559	0.69785	D	0.366757108284608	0.59628	4.143998	0.15026080409894	0.47156	2.950075	0.911033312497369	0.26355	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.83	2.91	0.32903	6.076000	0.70901	8.304000	0.76936	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.1246:0.0:0.8754:0.0	7.252	0.25327	721	0.55360	C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	800.98	33	chr1	1243491	.	G	A	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.42;ReadPosRankSum=0.093;SOR=0.761	GT:AD:DP:GQ:PL	0/1:49,36:85:99:815,0,1091	20	0	1	0
chr1	1283999	1283999	C	A	exonic	SCNN1D	.	nonsynonymous SNV	SCNN1D:NM_001130413:exon5:c.C373A:p.L125I,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.204	B	0.02	B	.	.	1.000	N	0.345	N	-0.62	T	-0.995	T	0.140	T	0.034	1.200	9.874	-2.04	-0.431	-0.223	5.099	0.049	0.00724728326238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.642e-07	1.094e-05	0	1.554e-06	9.607e-07	0	0	.	.	0	0	0	0	0	0	9.607e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.088	0.40586	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.73	0.73100	T	-0.1	0.08495	N	0.128	0.13626	-0.9948	0.31352	T	0.140	0.45828	T	9	0.069535255	0.09990	T	0.007247	0.19225	T	0.049	0.13647	0.307	0.27806	0.112648838833	0.10856	0.019695980728043194	0.01922	.	.	0.341364562511	0.16643	T	.	.	.	-0.172841	0.24806	T	-0.486051	0.23806	T	0.073569103544084	0.09144	T	0.286771	0.05140	T	0.24687381	0.47660	0.13481812	0.32295	0.24687381	0.47660	0.13481812	0.32294	-5.442	0.41321	T	.	.	0.130	0.31658	B	.;.	.;.	1.501806	0.19302	14.20	0.94984528706370341	0.25927	0.01437	0.04829	N	AEFDBHCIJ	0.035767	0.04658	N	-1.12926426660554	0.06128	0.2812587	-1.23891277573289	0.05297	0.2520571	0.999999106184005	0.74766	0.696267	0.57585	0	0.00446	0.00028	3	0.691665	0.62940	0	0.604944	0.38103	0	.	.	2.09	-2.04	0.06937	-1.218000	0.03086	0.909000	0.22611	0.515000	0.23462	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2069:0.2915:0.5016:0.0	5.099	0.14085	774	0.48577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	905.98	34	chr1	1283999	.	C	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.520e-01;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=1.26;SOR=0.748	GT:AD:DP:GQ:PL	0/1:44,40:84:99:920,0,1064	20	0	1	0
chr1	1628311	1628311	T	G	exonic	MIB2	.	nonsynonymous SNV	MIB2:NM_001170688:exon14:c.T2030G:p.V677G	.	.	420	1089	11	2	0	15	0.00683995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.934	D	0.000	D	1.000	D	3.655	H	-0.24	T	0.220	D	0.472	T	0.892	3.883	19.74	4.15	1.728	2.382	12.489	0.544	.	.	0.00279553	0.0015	0.0001	8.783e-05	0	0	0.0005	0.0012	0.0082	0.0012484	193	154602	rs193243389	0.0008	0.0008	0.0005	0.0010	0.0085	0.0007	0.0007	0.0080	0.0078	2.987e-05	4.474e-05	0	0	1.914e-05	0.0017	0.0003	0.0010	0.0085	0.0005	0.0005	0.0004	0.0006	0.0068	0.0004	0.0004	0.0050	0.0044	0	0	0.0004	0	0	0	0	0.0005	0.0005	0.0068	0.018	0.51248	D	0.034	0.52727	D	0.972	0.57405	D	0.883	0.62698	P	0.000118	0.50451	D	0.134298	1	0.81001	D	.	.	.	-0.24	0.66834	T	-5.85	0.88699	D	0.686	0.69213	0.220	0.86254	D	0.472	0.79711	T	10	0.015547216	0.00326	T	.	.	.	0.544	0.81018	.	.	0.773115707662	0.77103	0.8263480128245788	0.82592	0.475255745928	0.46707	0.45295971632	0.32348	T	.	.	.	-0.0296474	0.47469	T	0.189905	0.82564	D	0.166179281705954	0.18316	T	0.923208	0.76101	D	.	.	.	.	.	.	.	.	-10.931	0.81627	D	.	.	0.369	0.63129	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.850228	0.79271	27.1	0.99704458980972599	0.80867	0.87004	0.46417	D	AEFGBCI	0.680580	0.64423	D	0.537653498242244	0.69334	5.342127	0.44884252045586	0.64642	4.724163	0.999998675084358	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.15	4.15	0.47978	1.150000	0.31250	3.421000	0.38252	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	12.489	0.55230	809	0.43032	.;.;.;.;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1995.98	36	chr1	1628311	.	T	G	1995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=947;ExcessHet=0.0000;FS=8.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.10;ReadPosRankSum=0.874;SOR=0.805	GT:AD:DP:GQ:PL	0/1:50,74:124:99:2010,0,1247	20	0	1	0
chr1	5905761	5905761	C	T	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_001291594:exon10:c.G98A:p.G33D	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	824278	Nephronophthisis|Nephronophthisis_4|Senior-Loken_syndrome_4	Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.279	B	0.085	B	0.595	N	1.000	N	0	N	-2.13	D	-0.734	T	0.388	T	0.08	0.076	4.409	5.42	2.529	1.516	15.386	0.261	0.0693065804254	8.2e-05	.	0.0002	0	0.0001	0	0	0.0002	0	0.0008	0.0001488	23	154602	rs200800785	8.297e-05	8.551e-05	5.046e-05	0.0001	0.0007	7.085e-05	6.634e-05	0.0006	0.0005	0	0	0	0	0	0	4.683e-05	8.296e-05	0.0007	6.572e-05	6.567e-05	3.855e-05	9.416e-05	0.0004	3.517e-05	2.617e-05	7.299e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	0.565	0.06282	T	0.679	0.36101	T	0.279	0.32056	B	0.085	0.29395	B	0.595442	0.11009	N	0.829724	1	0.08975	N	1.61	0.41143	L	-2.13	0.86349	D	-0.89	0.24026	N	0.192	0.26957	-0.7342	0.58751	T	0.388	0.74312	T	10	0.04820192	0.04239	T	0.069307	0.70692	D	0.261	0.57352	.	.	0.879606597277	0.87843	0.35388020791948505	0.35302	0.317553365187	0.33995	0.290909945965	0.09055	T	0.136667	0.46916	T	-0.400027	0.02314	T	-0.412142	0.31978	T	0.0658960681769665	0.08062	T	0.70183	0.32735	T	0.105881594	0.25035	0.13997038	0.33379	0.105881594	0.25034	0.13997038	0.33378	-3.407	0.15150	T	0.5657153434015589	0.63319	0.154	0.34250	B	.;.	.;.	1.430407	0.18485	13.76	0.72758486422953705	0.10085	0.30131	0.24003	N	AEFBI	0.097608	0.19684	N	-0.657481748963666	0.17243	0.8856061	-0.591924011410825	0.19702	1.058288	0.999211030317522	0.38775	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.42	5.42	0.78666	1.170000	0.31493	3.789000	0.39822	0.599000	0.40250	0.005000	0.17040	0.532000	0.25368	0.002000	0.04165	0.0:0.8606:0.1394:0.0	15.386	0.74422	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1845.98	38	chr1	5905761	.	C	T	1845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=859;ExcessHet=0.0000;FS=12.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=0.239;SOR=1.593	GT:AD:DP:GQ:PL	0/1:63,71:134:99:1860,0,1491	20	0	1	0
chr1	5909165	5909165	G	C	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_015102:exon12:c.C1490G:p.P497R,	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	.	2	1505	15	0	0	15	0.00495868	.	.	212108	not_specified|Nephronophthisis|Nephronophthisis_4|Senior-Loken_syndrome_4	MedGen:CN169374|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.24	T	0.999	D	0.976	D	0.003	N	0.963	N	1.87	L	-2.23	D	-0.083	T	0.690	D	0.315	1.949	12.47	3.45	2.226	4.211	10.696	0.261	.	.	0.00958466	0.0111	0	0.0009	0	0	0.0002	0.0082	0.0568	0.0049029	758	154602	rs375051705	0.0026	0.0027	0.0015	0.0037	0.0429	0.0025	0.0025	0.0418	0.0413	0.0001	6.986e-05	0.0003	5.094e-05	3.811e-05	0.0019	3.345e-05	0.0024	0.0429	0.0014	0.0014	0.0007	0.0021	0.0420	0.0012	0.0012	0.0373	0.0355	0.0001	0	6.533e-05	0.0003	0	0	0	1.47e-05	0.0005	0.0420	0.016	0.51853	D	0.182	0.42261	T	0.999	0.77913	D	0.976	0.73562	D	0.002940	0.35704	N	0.176841	0.963216	0.26034	N	2.655	0.77738	M	-2.23	0.87116	D	-1.85	0.43334	N	0.424	0.46368	-0.0828	0.80492	T	0.690	0.89312	D	10	0.0061025918	0.00137	T	.	.	.	0.261	0.57352	0.216	0.13643	0.931613473457	0.93091	0.39859282887702197	0.39774	0.390474098581	0.40258	0.653904557228	0.60540	T	0.184754	0.53752	T	-0.290326	0.09604	T	-0.158393	0.58496	T	0.0377434078750104	0.03287	T	0.825917	0.48908	T	0.0846293	0.19596	0.10513882	0.25267	0.085181125	0.19748	0.1368433	0.32724	-4.747	0.33968	T	0.7689184864723688	0.85007	0.176	0.38569	B	.;.	.;.	4.335037	0.66457	25.0	0.99787247580287874	0.87308	0.76393	0.37463	D	AEFDBI	0.233365	0.35630	N	0.301435547555029	0.56223	3.786623	0.17635678744684	0.48553	3.069823	0.858840661621095	0.25186	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.45	3.45	0.38602	4.564000	0.60546	7.484000	0.59291	0.676000	0.76740	0.941000	0.32681	1.000000	0.68203	0.665000	0.33109	0.0:0.0:1.0:0.0	10.696	0.45093	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	0.02381	1149.98	34	chr1	5909165	.	G	C	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.760e-01;DP=811;ExcessHet=0.0000;FS=1.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=0.655;SOR=0.884	GT:AD:DP:GQ:PL	0/1:58,55:113:99:1164,0,1341	20	0	1	0
chr1	7827202	7827202	G	A	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289861:exon18:c.G2273A:p.S758N	.	.	410	1084	28	0	0	28	0.0127505	.	.	696879	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.443	B	0.112	B	0.000	N	1.000	N	2.16	M	2.7	T	-0.939	T	0.038	T	0.027	3.405	17.50	2.48	0.459	0.446	12.329	0.090	.	0.0045	0.00299521	0.0057	0.0015	0.0025	0.0001	0.0020	0.0067	0.0068	0.0109	0.0055303	855	154602	rs140974114	0.0067	0.0067	0.0067	0.0068	0.0107	0.0066	0.0066	0.0087	0.0085	0.0012	0.0030	0.0038	0	0.0020	0.0107	0.0075	0.0053	0.0092	0.0047	0.0047	0.0051	0.0043	0.0075	0.0044	0.0043	0.0070	0.0067	0.0014	0.0230	0.0033	0.0052	0	0.0015	0.0136	0.0075	0.0052	0.0058	0.06	0.53172	T	0.023	0.57587	D	0.443	0.35940	B	0.112	0.31615	B	0.000000	0.00162	N	7739.210000	1	0.08975	N	1.935	0.51832	L	2.7	0.12371	T	-1.11	0.28703	N	0.062	0.07125	-0.9394	0.42711	T	0.038	0.16246	T	10	0.0038220286	0.00072	T	.	.	.	0.090	0.26093	.	.	0.402899589544	0.39908	0.10486589036774804	0.10416	0.222339536116	0.24767	0.255118489265	0.04326	T	0.058268	0.50683	T	-0.699133	0.00037	T	-0.767638	0.02847	T	0.0246835238520997	0.01231	T	0.353565	0.07967	T	0.1713542	0.37764	0.16042301	0.37365	0.13994	0.32306	0.16042301	0.37364	-5.066	0.37548	T	0.3907261575740155	0.48394	0.111	0.24733	B	.;.;.;.	.;.;.;.	1.112850	0.14983	11.49	0.98711722552166736	0.45069	0.19769	0.20788	N	AEFDBHCI	0.059648	0.11282	N	-0.652478039679611	0.17388	0.8943448	-0.748341493480713	0.15762	0.8306339	0.999999997561841	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.375	0.06713	1	.	.	4.43	2.48	0.29194	0.661000	0.24706	0.091000	0.14516	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.0:0.2986:0.7014:0.0	12.329	0.54353	524	0.74079	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	713.98	36	chr1	7827202	.	G	A	713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.661;DP=1011;ExcessHet=0.0000;FS=3.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=0.348;SOR=0.324	GT:AD:DP:GQ:PL	0/1:39,26:65:99:728,0,1097	20	0	1	0
chr1	8861418	8861418	T	C	exonic	ENO1	.	nonsynonymous SNV	ENO1:NM_001201483:exon11:c.A968G:p.E323G	Enolase deficiency (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.841	P	0.882	P	0.000	D	1.000	D	3.26	M	0.4	T	-0.065	T	0.406	T	0.753	4.983	29.2	5.53	2.109	7.917	14.856	0.510	0.0507489932897	.	.	3.3e-05	0	0	0.0001	0	0	0.0011	0.0001	2.59e-05	4	154602	rs776586770	3.831e-05	3.831e-05	1.361e-05	6.325e-05	0.0005	3.025e-05	2.719e-05	0.0004	0.0003	0	0	0	0.0003	0	0	0	8.28e-05	0.0005	2.631e-05	2.627e-05	1.286e-05	4.041e-05	0.0006	8.15e-06	5.15e-06	0.0002	9.003e-05	0	0	0	0	0.0002	0	0	0	0	0.0006	0.001	0.78490	D	0.004	0.74150	D	0.748	0.43202	P	0.647	0.52336	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.95	0.96445	H	0.4	0.57261	T	-4.2	0.75695	D	0.772	0.76946	-0.0645	0.80898	T	0.406	0.75572	T	10	0.656811	0.69921	D	0.050749	0.64371	D	0.510	0.78971	0.59	0.71874	0.907688085312	0.90676	0.803174956062826	0.80271	0.924845224075	0.71602	0.668873071671	0.62677	T	0.613925	0.87804	D	-0.011604	0.50042	T	0.0501028	0.73591	D	0.96230012178421	0.66327	D	0.955504	0.83071	D	0.9106582	0.92356	0.81653106	0.89317	0.9106582	0.92357	0.81653106	0.89318	-9.261	0.69362	D	.	.	0.384	0.60057	A	.;.;.	.;.;.	5.288512	0.88792	29.7	0.99904551710821476	0.97576	0.99539	0.97221	D	AEFBHCI	0.948709	0.96061	D	0.777867292994301	0.84704	8.36262	0.751824287014711	0.86291	8.843025	0.999999999999978	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.53	5.53	0.82530	7.895000	0.85911	7.782000	0.68692	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	14.856	0.69969	712	0.56465	Enolase, C-terminal TIM barrel domain|Enolase, C-terminal TIM barrel domain;Enolase, C-terminal TIM barrel domain|Enolase, C-terminal TIM barrel domain;Enolase, C-terminal TIM barrel domain|Enolase, C-terminal TIM barrel domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	634.98	36	chr1	8861418	.	T	C	634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.300e-02;DP=762;ExcessHet=0.0000;FS=0.937;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=0.999;SOR=0.570	GT:AD:DP:GQ:PL	0/1:38,27:65:99:649,0,984	20	0	1	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.989	D	0.969	D	0.000	D	1.000	D	1.355	L	-0.82	T	-0.170	T	0.498	T	0.639	3.746	19.02	5.6	2.633	9.476	19.620	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11777.12	34	chr1	10326244	.	G	C	11777.12	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-6.149e+00;DP=3631;ExcessHet=11.8493;FS=235.795;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.590;SOR=13.423	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,38:178:99:0|1:10326244_G_C:375,0,4919:10326244	8	0	13	0
chr1	13281633	13281633	A	G	exonic	PRAMEF8	.	nonsynonymous SNV	PRAMEF8:NM_001012276:exon4:c.T1163C:p.I388T,	.	.	447	1068	7	0	0	7	0.00326645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.99	D	0.894	P	0.281	N	1.000	N	2.25	M	5.11	T	-1.013	T	0.014	T	0.283	1.264	10.12	2.03	0.929	3.342	7.682	0.105	0.0392094899584	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261687327	0.0006	0.0006	0.0006	0.0007	0.0024	0.0006	0.0006	0.0022	0.0021	5.989e-05	8.956e-05	0	0	0	0.0017	0.0006	0.0006	0.0024	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0011	0.0008	7.507e-05	0	7.264e-05	0	0	0	0	0.0006	0.0026	0.0021	0.262	0.16466	T	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.11	0.01224	T	-3.38	0.66780	D	0.289	0.34336	.	.	.	.	.	.	.	0.29297444	0.46873	T	.	.	.	.	.	.	.	0.186928172975	0.18263	0.36682660529706146	0.36596	.	.	0.565986931324	0.48111	T	0.100821	0.40699	T	0.0184342	0.54170	T	-0.211297	0.53571	T	.	.	.	.	.	.	0.0498263	0.08909	0.12004041	0.28972	0.0498263	0.08908	0.12004041	0.28971	-6.743	0.52133	T	.	.	0.537	0.66914	A	.;.;.	.;.;.	2.431563	0.31284	18.69	0.63082009607711964	0.07130	0.49232	0.28386	N	AEFI	0.058508	0.10982	N	.	.	.	.	.	.	6.82775468482763E-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	1.56	1.56	0.22423	3.606000	0.53846	3.706000	0.39541	0.359000	0.20063	0.858000	0.30578	0.186000	0.23459	0.052000	0.15357	1.0:0.0:0.0:0.0	7.169	0.24883	.	.	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5814.11	36	chr1	13281633	.	A	G	5814.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.550e+00;DP=1267;ExcessHet=0.1072;FS=15.158;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=35.80;MQRankSum=2.32;QD=12.06;ReadPosRankSum=0.040;SOR=0.236	GT:AD:DP:GQ:PL	0/1:166,121:287:99:2830,0,4382	19	0	2	0
chr1	13781565	13781567	AAG	-	exonic	PRDM2	.	nonframeshift deletion	PRDM2:NM_001007257:exon3:c.3167_3169del:p.E1060del	.	.	427	1086	8	1	0	10	0.00458295	.	.	2805766	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0.00159744	0.0045	0.0006	0.0026	0.0011	0.0017	0.0066	0.0078	0.0025	0.0008837	23	26028	rs147285105	0.0059	0.0059	0.0059	0.0058	0.0069	0.0058	0.0057	0.0068	0.0067	0.0006	0.0025	0.0023	0.0002	0.0020	0.0043	0.0069	0.0050	0.0029	0.0040	0.0040	0.0043	0.0038	0.0066	0.0038	0.0037	0.0061	0.0059	0.0012	0.0055	0.0042	0.0023	0.0002	0.0012	0.0068	0.0066	0.0052	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1428.94	85	chr1	13781564	.	AAAG	A	1428.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.906;DP=1771;ExcessHet=0.0000;FS=3.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.81;ReadPosRankSum=-2.436e+00;SOR=0.376	GT:AD:DP:GQ:PL	0/1:47,38:85:99:1443,0,1787	20	0	1	0
chr1	16409979	16409979	G	A	exonic	SPATA21	.	nonsynonymous SNV	SPATA21:NM_001353349:exon4:c.C140T:p.A47V	.	.	.	.	.	.	.	.	.	.	.	3330161	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.86	T	0.0	B	0.0	B	0.000	N	1.000	N	-0.205	N	-0.0	T	-0.956	T	0.072	T	0.059	-1.551	0.015	-7.43	-3.384	-3.452	2.067	0.022	0.003995994295	7.7e-05	.	0.0002	0	0.0002	0	0	0.0002	0	0.0007	0.0001552	24	154602	rs141705517	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.028e-05	0.0005	0.0010	0	0	0.0004	7.669e-05	0.0003	0.0006	0.0001	0.0001	0.0001	0.0001	0.0006	7.579e-05	6.284e-05	0.0003	0.0002	2.413e-05	0	0.0006	0.0009	0	0	0	7.351e-05	0	0	1.0	0.00964	T	0.569	0.08839	T	0.0	0.02946	B	0.0	0.01387	B	0.000069	0.00414	N	4.046660	1	0.08975	N	-0.205	0.04094	N	-0.0	0.62762	T	-0.04	0.07590	N	0.076	0.06322	-0.9561	0.39898	T	0.072	0.29323	T	10	0.010257363	0.00229	T	0.003996	0.09462	T	0.022	0.04323	.	.	0.0482279557977	0.04254	0.057401734098235346	0.05681	0.0886726636444	0.10026	0.276521265507	0.07013	T	8.53E-4	0.00427	T	-0.548978	0.00296	T	-0.692195	0.06262	T	0.0238037016242743	0.01120	T	0.428957	0.11607	T	0.028019823	0.02078	0.034233753	0.02454	0.028019823	0.02078	0.034233753	0.02453	-4.393	0.29719	T	.	.	0.070	0.06942	B	.;.	.;.	-1.431601	0.00338	0.006	0.64962399302535911	0.07639	0.00335	0.01744	N	AEFDBI	0.023649	0.01348	N	-2.09394707953353	0.00132	0.0056526	-2.17797668193097	0.00125	0.005512138	0.999999999256391	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.72	-7.43	0.01238	-4.137000	0.00326	-6.464000	0.01391	-0.301000	0.06190	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4649:0.0942:0.2673:0.1737	2.067	0.03387	784	0.47045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1109.98	33	chr1	16409979	.	G	A	1109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.059;DP=954;ExcessHet=0.0000;FS=1.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.039;SOR=0.886	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1124,0,1284	20	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	41030.51	718	chr1	16563946	.	C	T	41030.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.258;DP=13151;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.21;MQRankSum=-8.750e+00;QD=3.71;ReadPosRankSum=0.088;SOR=0.664	GT:AD:DP:GQ:PL	0/1:630,77:707:99:483,0,18536	3	0	18	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	47598.51	991	chr1	16563989	.	G	C	47598.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.780e-01;DP=17388;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.70;MQRankSum=-4.782e+00;QD=3.12;ReadPosRankSum=0.231;SOR=0.674	GT:AD:DP:GQ:PL	0/1:898,111:1009:99:411,0,24801	3	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	106526.9	1008	chr1	16564107	.	T	G	106526.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.422e+00;DP=17757;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=55.80;MQRankSum=6.43;QD=7.02;ReadPosRankSum=0.689;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:702,225:927:99:.:.:5648,0,24347	4	0	17	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	19191.79	994	chr1	16564112	.	G	A	19191.79	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.44;DP=16699;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=55.13;MQRankSum=4.65;QD=1.72;ReadPosRankSum=0.230;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:794,105:899:99:.:.:596,0,31129	7	0	13	1
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4762	99791.4	773	chr1	16564144	.	C	T	99791.4	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.121e+00;DP=14037;ExcessHet=43.6797;FS=0.578;InbreedingCoeff=-0.9210;MLEAC=20;MLEAF=0.476;MQ=53.77;MQRankSum=-1.899e+01;QD=7.70;ReadPosRankSum=0.116;SOR=0.802	GT:AD:DP:GQ:PL	0/1:370,291:661:99:7532,0,12949	1	0	20	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	110456.43	755	chr1	16564149	.	C	T	110456.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-9.900e-01;DP=13366;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.66;MQRankSum=7.55;QD=8.81;ReadPosRankSum=-3.670e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:385,244:629:99:6008,0,13796	1	0	20	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.2381	6221.79	448	chr1	16577387	.	T	C	6221.79	.	AC=10;AF=0.238;AN=42;BaseQRankSum=1.96;DP=6360;ExcessHet=6.1002;FS=0.799;InbreedingCoeff=-0.3043;MLEAC=10;MLEAF=0.238;MQ=42.88;MQRankSum=-3.300e+00;QD=1.94;ReadPosRankSum=-6.470e-01;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:405,44:449:41:.:.:41,0,11179	11	0	10	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6554.32	70	chr1	16579293	.	A	G	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=1.87;DP=1441;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-7.480e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,16:66:99:0|1:16579293_A_G:521,0,2051:16579293	0	0	19	2
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	6554.32	70	chr1	16579294	.	T	C	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-5.460e+00;DP=1432;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-9.680e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,16:66:99:0|1:16579293_A_G:521,0,2051:16579293	0	0	19	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	3659.58	71	chr1	16579305	.	G	A	3659.58	.	AC=18;AF=0.429;AN=42;BaseQRankSum=3.29;DP=1401;ExcessHet=30.0624;FS=127.752;InbreedingCoeff=-0.7505;MLEAC=18;MLEAF=0.429;MQ=35.79;MQRankSum=0.355;QD=3.02;ReadPosRankSum=-7.570e-01;SOR=8.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,12:66:99:.:.:324,0,1592	3	0	18	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.3095	1830.34	67	chr1	16579308	.	G	C	1830.34	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.233;DP=1379;ExcessHet=11.8493;FS=101.562;InbreedingCoeff=-0.4491;MLEAC=13;MLEAF=0.310;MQ=35.77;MQRankSum=0.401;QD=2.26;ReadPosRankSum=-6.640e-01;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,9:65:99:.:.:174,0,2309	8	0	13	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P,	.	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	1.0	D	0.999	D	0.001	D	.	.	.	.	.	.	-0.707	T	0.205	T	0.394	0.985	9.021	.	0.502	4.380	6.740	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.2143	10056.01	467	chr1	16757526	.	C	G	10056.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.907e+00;DP=7504;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=40.50;MQRankSum=-1.159e+00;QD=2.85;ReadPosRankSum=0.494;SOR=0.679	GT:AD:DP:GQ:PL	0/1:373,65:438:99:706,0,10670	12	0	9	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26,	.	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	13930.12	129	chr1	16759590	.	G	GC	13930.12	.	AC=26;AF=0.619;AN=42;BaseQRankSum=5.56;DP=1816;ExcessHet=4.5793;FS=24.066;InbreedingCoeff=-0.2117;MLEAC=26;MLEAF=0.619;MQ=45.00;MQRankSum=-3.164e+00;QD=9.41;ReadPosRankSum=-3.895e+00;SOR=1.240	GT:AD:DP:GQ:PL	0/1:82,52:134:99:1408,0,2522	2	7	12	0
chr1	16760964	16760964	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon2:c.T206C:p.M69T,	.	.	338	890	294	0	0	294	0.141755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.191	B	0.089	B	0.081	N	.	.	.	.	.	.	-0.989	T	0.089	T	0.142	-0.797	0.685	.	0.000	1.701	.	0.053	.	.	.	0.1542	0.1357	0.2256	0.0314	0.1520	0.1481	0.1473	0.2082	0.121253	18746	154602	rs11576695	6.842e-07	2.599e-05	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.568e-06	5.909e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	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	0.125	5178.17	639	chr1	16760964	.	A	G	5178.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.286e+00;DP=13143;ExcessHet=1.1607;FS=0.760;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=56.59;MQRankSum=2.89;QD=1.46;ReadPosRankSum=0.558;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:679,92:771:99:.:.:305,0,22349	15	0	5	1
chr1	22597780	22597780	C	T	exonic	EPHA8	.	nonsynonymous SNV	EPHA8:NM_020526:exon11:c.C2035T:p.R679W,	.	.	.	.	.	.	.	.	.	.	.	2367913	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.986	D	0.000	D	1.000	D	1.57	L	-1.71	D	0.228	D	0.608	D	0.505	3.628	18.46	2.56	1.130	0.150	12.220	0.589	0.101656986436	.	.	4.994e-05	0	8.654e-05	0	0	0	0.0011	0.0002	3.88e-05	6	154602	rs557674245	5.339e-05	5.336e-05	3.814e-05	6.88e-05	0.0006	4.347e-05	4.02e-05	0.0005	0.0004	0	0	0	0.0001	0	0	2.068e-05	1.656e-05	0.0006	5.252e-05	5.249e-05	1.285e-05	9.4e-05	0.0010	2.555e-05	1.829e-05	0.0004	0.0003	4.811e-05	0	0	0	0.0002	0	0	0	0	0.0010	0.0	0.91255	D	0.06	0.45744	T	1.0	0.90584	D	0.986	0.76916	D	0.000297	0.46274	D	0.136815	0.999892	0.50595	D	2.3	0.65703	M	-1.71	0.83157	D	-6.88	0.93217	D	0.65	0.66101	0.228	0.86379	D	0.608	0.86106	D	10	0.745757	0.75276	D	0.101657	0.77467	D	0.589	0.83582	0.664	0.80199	0.875420430609	0.87420	0.6213300709569076	0.62066	0.823517905895	0.67284	0.290923297405	0.09057	T	0.693587	0.91113	D	-0.179673	0.23783	T	-0.128272	0.61117	T	0.65522289276123	0.38687	D	0.951205	0.81406	D	0.85451937	0.87671	0.5667653	0.74922	0.85451937	0.87673	0.5667653	0.74922	-9.04	0.67955	D	.	.	0.125	0.26388	B	.	.	5.091568	0.85029	28.5	0.99916580171171954	0.98449	0.35217	0.25250	N	AEFDBI	0.533801	0.55310	D	0.165085862022516	0.49528	3.152214	0.0639671939400722	0.42753	2.591419	2.67762217187151E-4	0.06244	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.56	2.56	0.29842	0.219000	0.17426	3.292000	0.37313	0.599000	0.40250	0.483000	0.26824	0.172000	0.23351	0.942000	0.48361	0.3062:0.6938:0.0:0.0	12.220	0.53737	889	0.27310	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1412.98	36	chr1	22597780	.	C	T	1412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.896e+00;DP=831;ExcessHet=0.0000;FS=0.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.407;SOR=0.625	GT:AD:DP:GQ:PL	0/1:58,62:120:99:1427,0,1430	20	0	1	0
chr1	22661028	22661028	G	A	exonic	C1QB	.	nonsynonymous SNV	C1QB:NM_000491:exon3:c.G404A:p.R135H	C1q deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2322018	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.919	D	0.001	N	1.000	N	1.79	L	-0.93	T	-0.238	T	0.557	D	0.372	2.335	13.77	5.05	2.520	2.861	17.352	0.267	0.051493727007	.	.	8.239e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs753074108	1.847e-05	1.847e-05	1.77e-05	1.925e-05	5.038e-05	1.265e-05	1.084e-05	1.377e-05	1.15e-05	2.987e-05	0	0	5.038e-05	0	0	2.068e-05	1.656e-05	0	1.976e-05	1.971e-05	1.288e-05	2.698e-05	0.0004	5.25e-06	2.46e-06	6.921e-05	2.892e-05	2.42e-05	0	0	0	0.0004	0	0	0	0	0	0.014	0.53172	D	0.111	0.37589	T	0.999	0.77913	D	0.919	0.65474	D	0.001483	0.38855	N	0.218726	0.999959	0.19072	N	2.43	0.70455	M	-1.04	0.76561	T	-1.23	0.31576	N	0.412	0.45237	-0.2376	0.76688	T	0.557	0.83841	D	10	0.4148171	0.56470	T	0.051494	0.64684	D	0.267	0.58126	0.392	0.41606	0.808399012084	0.80660	0.5547209130482287	0.55399	1.48848578561	0.86842	0.324235796928	0.14062	T	0.201631	0.59970	T	0.0150439	0.53710	T	-0.216167	0.53106	T	0.940804839134216	0.61347	D	0.850515	0.53399	D	0.37112677	0.58668	0.21306722	0.45802	0.37112677	0.58668	0.21306722	0.45801	-4.593	0.32083	T	.	.	0.148	0.36633	B	.;.;.;.	.;.;.;.	4.081686	0.60724	24.3	0.9989622604500249	0.96895	0.20616	0.21106	N	AEFBI	0.824806	0.74463	D	0.180120722256424	0.50246	3.216427	0.0418472747298275	0.41679	2.508105	0.00108707928239074	0.08206	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.05	5.05	0.67566	5.662000	0.67701	6.576000	0.55982	0.676000	0.76740	0.971000	0.34370	0.998000	0.33993	0.044000	0.14658	0.0:0.0:1.0:0.0	17.352	0.87215	892	0.26670	C1q domain;C1q domain|C1q domain|C1q domain|C1q domain;C1q domain|C1q domain|C1q domain|C1q domain;C1q domain|C1q domain|C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2679.98	34	chr1	22661028	.	G	A	2679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.800e-02;DP=952;ExcessHet=0.0000;FS=0.973;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=-6.430e-01;SOR=0.783	GT:AD:DP:GQ:PL	0/1:133,117:250:99:2694,0,3151	20	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33415.17	33	chr1	26282323	.	A	G,*	33415.17	.	AC=30,8;AF=0.714,0.190;AN=42;BaseQRankSum=0.532;DP=976;ExcessHet=0.6776;FS=0.923;InbreedingCoeff=-0.1053;MLEAC=30,8;MLEAF=0.714,0.190;MQ=60.00;MQRankSum=0.00;QD=31.59;ReadPosRankSum=-6.110e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,33,0:33:99:1|1:26282270_C_T:1485,99,0,1485,99,1485:26282270	0	9	4	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	11163.93	50	chr1	26282357	.	CTGGGGCCGGG	C,*	11163.93	.	AC=10,16;AF=0.238,0.381;AN=42;BaseQRankSum=0.187;DP=1169;ExcessHet=10.5502;FS=6.433;InbreedingCoeff=-0.4135;MLEAC=10,16;MLEAF=0.238,0.381;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.857;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,30,0:46:99:0|1:26282270_C_T:1207,0,549,1255,640,1895:26282270	1	0	7	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14396.36	49	chr1	26282374	.	ACC	*,A	14396.36	.	AC=10,12;AF=0.294,0.353;AN=34;BaseQRankSum=-8.440e-01;DP=1160;ExcessHet=1.0911;FS=8.398;InbreedingCoeff=-0.1667;MLEAC=11,13;MLEAF=0.324,0.382;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.737;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,30,16:46:99:0|1:26282270_C_T:1925,655,561,1257,0,1207:26282270	1	0	5	4
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11324.73	50	chr1	26282386	.	GCCGGGA	*,G	11324.73	.	AC=12,10;AF=0.353,0.294;AN=34;BaseQRankSum=0.255;DP=1262;ExcessHet=1.0911;FS=8.945;InbreedingCoeff=-0.1667;MLEAC=13,11;MLEAF=0.382,0.324;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=2.17;SOR=0.289	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,16,33:49:99:0|1:26282270_C_T:2043,1372,1320,655,0,552:26282270	1	1	5	4
chr1	26546021	26546021	C	T	exonic	RPS6KA1	.	nonsynonymous SNV	RPS6KA1:NM_001006665:exon1:c.C121T:p.P41S,	.	.	389	1131	2	0	0	2	0.000883392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.001	B	0.068	N	1.000	D	0.345	N	-0.41	T	-1.052	T	0.118	T	0.084	2.135	13.09	2.18	0.673	1.380	8.600	0.073	0.0161539686969	.	0.000798722	0.0006	0	0.0002	0	0	8.454e-05	0.0064	0.0038	0.0004851	75	154602	rs545464196	0.0003	0.0002	0.0002	0.0003	0.0036	0.0002	0.0002	0.0033	0.0032	0	0	0	0	0	0.0011	2.07e-05	0.0004	0.0036	9.845e-05	9.842e-05	6.422e-05	0.0001	0.0027	6e-05	4.875e-05	0.0016	0.0013	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0027	0.729	0.03823	T	0.572	0.08746	T	0.0	0.02946	B	0.001	0.04355	B	0.068314	0.21681	N	0.368043	1	0.81001	D	.	.	.	-0.41	0.69413	T	0.4	0.03463	N	0.27	0.30574	-1.0522	0.13790	T	0.118	0.41560	T	10	0.0037961006	0.00071	T	0.016154	0.37263	T	0.073	0.21317	0.144	0.04746	0.250512400709	0.24649	0.33877112466358394	0.33790	0.606565947541	0.55501	0.351944923401	0.18207	T	.	.	.	-0.510051	0.00502	T	-0.507535	0.21568	T	0.0368857559538266	0.03135	T	.	.	.	.	.	.	.	.	.	.	.	-2.792	0.08110	T	.	.	0.067	0.02488	B	.	.	2.039128	0.25922	16.93	0.98052867381801712	0.37882	0.60883	0.31323	D	AEFDGBHCI	0.215533	0.34088	N	-0.706628107658555	0.15835	0.8015666	-0.531376515385434	0.21302	1.151784	0.999999874303824	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.600373	0.31884	2	0.613276	0.41899	0	.	.	4.05	2.18	0.26813	1.399000	0.34175	1.686000	0.28041	-0.193000	0.09282	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8146:0.0:0.1854	8.600	0.32902	364	0.84707	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	570.98	37	chr1	26546021	.	C	T	570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=733;ExcessHet=0.0000;FS=2.844;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=-1.273e+00;SOR=1.230	GT:AD:DP:GQ:PL	0/1:16,21:37:99:585,0,384	20	0	1	0
chr1	29120948	29120948	T	C	exonic	TMEM200B	.	nonsynonymous SNV	TMEM200B:NM_001003682:exon2:c.A881G:p.Y294C	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.532	P	0.1	B	0.002	U	0.820	D	0.805	L	.	.	-0.922	T	0.074	T	0.676	2.065	12.86	4.26	1.904	6.384	7.835	0.204	.	.	0.00559105	0.0023	0	9.464e-05	0	0	0	0.0014	0.0169	0.0018564	287	154602	rs372915330	0.0008	0.0008	0.0004	0.0012	0.0128	0.0008	0.0008	0.0122	0.0119	0	2.245e-05	0	2.524e-05	0	0.0016	9.004e-06	0.0009	0.0128	0.0006	0.0006	0.0003	0.0008	0.0172	0.0005	0.0004	0.0142	0.0131	4.813e-05	0	0	0	0	0	0	0	0	0.0172	0.0	0.91255	D	0.0	0.92824	D	0.532	0.37747	P	0.1	0.30674	B	0.001598	0.38554	U	0.000000	0.820262	0.34766	D	0.695	0.17993	N	.	.	.	-3.46	0.67705	D	0.655	0.66529	-0.9221	0.45265	T	0.074	0.29897	T	9	0.0070127845	0.00160	T	.	.	.	0.204	0.49076	0.37	0.38013	0.183819452728	0.17975	0.23598917739909941	0.23513	1.0423310772	0.75843	0.903025686741	0.96768	D	0.11088	0.42593	T	-0.160661	0.26657	T	0.0087697	0.70902	D	0.231583032658326	0.22027	T	0.752425	0.37456	T	0.49398753	0.66740	0.28777644	0.54791	0.49398753	0.66740	0.28777644	0.54790	-3.348	0.14364	T	.	.	0.777	0.76259	P	.;.	.;.	4.108607	0.61322	24.3	0.98963794970016949	0.49383	0.94645	0.61845	D	AEFDBCI	0.802187	0.72768	D	0.123220253849813	0.47548	2.978939	0.232161900635348	0.51640	3.344846	0.999999925936219	0.74766	0.72623	0.87236	0	0.514364	0.08380	0	0.594344	0.31042	0	0.562822	0.20929	0	.	.	4.26	4.26	0.49832	6.798000	0.74941	7.869000	0.71860	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0934:0.0:0.9066	7.835	0.28525	579	0.69780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1252.98	33	chr1	29120948	.	T	C	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.83;DP=799;ExcessHet=0.0000;FS=1.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-4.660e-01;SOR=0.889	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1267,0,1276	20	0	1	0
chr1	30876715	30876715	G	A	exonic	SDC3	.	nonsynonymous SNV	SDC3:NM_014654:exon3:c.C707T:p.A236V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.002	B	0.847	N	1.000	N	0	N	2.01	T	-0.988	T	0.019	T	0.033	-1.490	0.017	-4.47	-0.647	-0.072	3.258	0.002	0.00300035185241	.	.	8.296e-05	0.0001	0	0	0	0	0	0.0007	3.84e-05	1	26028	rs771589440	5.957e-05	6.772e-05	3.439e-05	8.512e-05	0.0008	4.938e-05	4.553e-05	0.0006	0.0006	0.0002	0	0	0	0	0	1.088e-05	3.37e-05	0.0008	5.913e-05	5.909e-05	5.139e-05	6.724e-05	0.0006	3.077e-05	2.21e-05	0.0002	8.977e-05	7.239e-05	0	0	0	0	0	0	4.41e-05	0	0.0006	1.0	0.00964	T	0.33	0.18560	T	0.0	0.02946	B	0.001	0.06944	B	0.847037	0.08990	N	0.921115	1	0.08975	N	-0.345	0.03330	N	2.01	0.21291	T	-0.07	0.10136	N	0.011	0.00308	-0.9883	0.33027	T	0.019	0.07986	T	10	0.012984306	0.00277	T	0.003	0.06427	T	0.002	0.00045	0.411	0.44723	0.0675242888579	0.06100	0.1838747080437411	0.18306	0.066999160328	0.07481	0.45295214653	0.32347	T	0.168696	0.51580	T	-0.639757	0.00084	T	-0.798162	0.01949	T	0.00573741776261908	0.00063	T	0.608239	0.24364	T	0.0222086	0.00869	0.03487395	0.02633	0.0222086	0.00869	0.03487395	0.02633	-4.336	0.28678	T	.	.	0.060	0.01348	B	.;.	.;.	0.574737	0.09432	6.211	0.23995931747144675	0.01040	0.00626	0.02758	N	AEFBI	0.054291	0.09858	N	-1.50960702611759	0.01786	0.07825959	-1.54978510116342	0.01978	0.09031793	0.977158857942877	0.29793	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.46	-4.47	0.03278	-0.026000	0.12340	0.447000	0.18483	-0.102000	0.15922	0.000000	0.06391	0.003000	0.18671	0.460000	0.28118	0.1845:0.218:0.4471:0.1503	3.258	0.06434	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1168.98	35	chr1	30876715	.	G	A	1168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.429;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-9.080e-01;SOR=0.640	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1183,0,1459	20	0	1	0
chr1	32208072	32208072	C	T	exonic	IQCC	.	nonsynonymous SNV	IQCC:NM_001160042:exon5:c.C1631T:p.P544L	.	.	420	1088	13	1	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.799	P	0.308	N	1.000	N	0.895	L	1.4	T	-1.082	T	0.074	T	0.265	3.167	16.59	2.87	1.186	1.776	7.496	0.067	.	0.0047	0.00219649	0.0059	0.0020	0.0033	0	0.0021	0.0058	0.0014	0.0143	0.0042496	657	154602	rs41306593	0.0058	0.0058	0.0056	0.0060	0.0108	0.0057	0.0057	0.0103	0.0100	0.0009	0.0019	0.0007	2.525e-05	0.0029	0.0031	0.0062	0.0056	0.0108	0.0034	0.0034	0.0038	0.0030	0.0077	0.0032	0.0031	0.0057	0.0050	0.0011	0	0.0017	0.0006	0	0.0018	0	0.0057	0.0038	0.0077	0.0	0.91255	D	0.0	0.92824	D	0.99	0.63424	D	0.799	0.58136	P	0.307832	0.14486	N	0.575442	1	0.08975	N	1.04	0.26193	L	1.4	0.36330	T	-2.32	0.51478	N	0.257	0.30914	-1.0821	0.06946	T	0.074	0.29865	T	10	0.0046834946	0.00098	T	.	.	.	0.067	0.19503	.	.	0.117506650769	0.11410	0.01820497705566635	0.01774	0.304605667835	0.32764	0.34721109271	0.17511	T	0.01481	0.12542	T	-0.505136	0.00535	T	-0.488975	0.23499	T	0.0272688329987866	0.01583	T	0.642236	0.25428	T	0.061849557	0.12853	0.08253657	0.18846	0.061849557	0.12852	0.08253657	0.18846	-3.94	0.23008	T	.	.	0.084	0.18828	B	.;.	.;.	3.184410	0.43240	21.7	0.99400352820044935	0.62794	0.32918	0.24702	N	AEFBHCI	0.050381	0.08799	N	-0.108836810699928	0.37008	2.146992	-0.236672425733594	0.30232	1.700504	0.999997826362323	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.489635	0.07774	0	0.645665	0.59343	0	.	.	3.79	2.87	0.32523	1.788000	0.38346	0.834000	0.21977	-1.114000	0.01484	0.659000	0.28251	0.061000	0.22037	0.018000	0.11154	0.0:0.8818:0.0:0.1182	7.496	0.26661	446	0.79659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1145.11	40	chr1	32208072	.	C	T	1145.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.077;DP=778;ExcessHet=0.1072;FS=0.856;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=1.13;SOR=0.572	GT:AD:DP:GQ:PL	0/1:22,28:50:99:769,0,649	19	0	2	0
chr1	34761638	34761638	G	A	exonic	GJB4	.	stopgain	GJB4:NM_153212:exon2:c.G384A:p.W128X,	Erythrokeratodermia variabilis with erythema gyratum repens, Autosomal recessive, Autosomal dominant	YES	0	1518	4	0	0	4	0.00131579	.	.	696696	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	7.125	38	5.73	2.722	9.807	19.513	.	.	0.0018	0.00119808	0.0021	0.0002	0.0003	0	0.0015	0.0031	0.0011	0.0020	0.0020375	315	154602	rs149110828	0.0021	0.0021	0.0020	0.0021	0.0023	0.0020	0.0020	0.0022	0.0022	0.0002	0.0005	0.0006	0	0.0021	0.0007	0.0023	0.0019	0.0022	0.0016	0.0016	0.0016	0.0016	0.0027	0.0014	0.0014	0.0024	0.0022	0.0004	0	0.0010	0.0006	0	0.0014	0	0.0027	0.0014	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.854	0.85027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.77566	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.123774	0.99583	45	0.99662780554450969	0.78074	0.99170	0.92261	D	AEFBHCI	0.311340	0.41710	N	1.013966651329	0.96159	14.36666	0.897957624106448	0.95482	13.66478	1.0	0.98316	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.73	5.73	0.89730	8.021000	0.89136	8.642000	0.77898	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	19.513	0.95144	905	0.23532	Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3795.98	37	chr1	34761638	.	G	A	3795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.253e+00;DP=967;ExcessHet=0.0000;FS=0.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=-2.480e-01;SOR=0.658	GT:AD:DP:GQ:PL	0/1:111,141:252:99:3810,0,3028	20	0	1	0
chr1	35192805	35192819	GGCTGCTGCGGCGGT	-	exonic	SFPQ	.	nonframeshift deletion	SFPQ:NM_005066:exon1:c.231_245del:p.Q80_P84del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0	0	0.0016	0	0.0004	0	0.0057	3.84e-05	1	26028	rs757660991	0.0003	0.0003	0.0002	0.0004	0.0031	0.0003	0.0002	0.0028	0.0027	0.0001	0.0001	0	0.0013	2.715e-05	0.0007	6.114e-05	0.0004	0.0031	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	0.0001	0.0023	0.0018	0.0001	0	6.55e-05	0	0.0006	0	0	1.473e-05	0	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	760.94	35	chr1	35192804	.	CGGCTGCTGCGGCGGT	C	760.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.470e-01;DP=782;ExcessHet=0.0000;FS=2.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=1.66;SOR=1.127	GT:AD:DP:GQ:PL	0/1:22,20:42:99:775,0,842	20	0	1	0
chr1	39511904	39511905	GG	-	exonic;splicing	BMP8A;BMP8A	.	frameshift deletion	BMP8A:NM_181809:exon3:c.673delG:p.H226Tfs*40,	.	.	546	26	383	566	1	1516	0.966816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284964917	3.274e-06	4.184e-06	2.207e-06	4.319e-06	3.209e-05	8.7e-07	2.4e-07	5.1e-07	1.9e-07	0	3.209e-05	0	0	0	0	3.046e-06	0	0	9.616e-06	1.344e-05	0	2.033e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	7775.32	8	chr1	39511903	.	CGG	TGG,C	7775.32	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=2.52;DP=302;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2724;MLEAC=32,1;MLEAF=0.762,0.024;MQ=26.98;MQRankSum=0.00;QD=26.63;ReadPosRankSum=0.072;SOR=3.721	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,17,0:17:51:.:.:540,51,0,540,51,540	0	12	8	0
chr1	40237502	40237502	G	C	exonic	RLF	.	nonsynonymous SNV	RLF:NM_012421:exon8:c.G2800C:p.G934R,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.001	B	0.568	N	0.995	N	0	N	2.52	T	-0.981	T	0.019	T	0.177	-0.261	2.749	6.06	2.882	1.443	9.527	0.097	0.00153096783757	.	0.000399361	0.0003	0	0	0	0	0	0	0.0020	0.0002329	36	154602	rs368404951	0.0002	0.0002	8.576e-05	0.0002	0.0026	0.0001	0.0001	0.0024	0.0023	0	0	0	0	0	0	8.993e-07	0.0002	0.0026	7.231e-05	7.221e-05	6.431e-05	8.067e-05	0.0023	3.973e-05	3.129e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.128	0.26965	T	0.33	0.18560	T	0.0	0.02946	B	0.0	0.01387	B	0.567976	0.11268	N	0.799167	0.995113	0.23368	N	0	0.06538	N	2.52	0.14160	T	0.34	0.03824	N	0.11	0.09631	-0.9813	0.34701	T	0.019	0.07753	T	10	0.004353404	0.00088	T	0.001531	0.02394	T	0.097	0.27909	0.316	0.29258	0.161926535498	0.15789	0.4405817733253024	0.43975	0.475177538353	0.46692	0.328413456678	0.14695	T	0.004663	0.04071	T	-0.605997	0.00134	T	-0.649416	0.08995	T	0.0440098829567432	0.04423	T	0.756624	0.37993	T	0.061098266	0.12615	0.10404994	0.24980	0.061098266	0.12614	0.10404994	0.24980	-3.897	0.22258	T	.	.	0.094	0.14660	B	.	.	1.894214	0.24061	16.25	0.76600235052327625	0.11534	0.61677	0.31555	D	AEFBI	0.134189	0.25411	N	-0.307542024567483	0.28862	1.595473	-0.0665595643935715	0.36781	2.145016	0.999945717923758	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.06	6.06	0.98340	1.532000	0.35634	6.437000	0.55645	0.676000	0.76740	0.584000	0.27618	1.000000	0.68203	0.998000	0.85391	0.0763:0.1859:0.7378:0.0	9.527	0.38338	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1752.98	35	chr1	40237502	.	G	C	1752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.670e-01;DP=926;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=-1.173e+00;SOR=0.652	GT:AD:DP:GQ:PL	0/1:101,73:174:99:1767,0,2771	20	0	1	0
chr1	41382209	41382209	-	GGGACGCCCGCCTACTTCGGCGGCTG	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1008_1009insGGGACGCCCGCCTACTTCGGCGGCTG:p.Q337Gfs*166,	.	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013447	35	26028	.	0.0010	0.0006	0.0010	0.0009	0.0041	0.0009	0.0009	0.0014	0.0009	0.0007	0.0041	0.0008	0.0011	0.0036	0.0012	0.0010	0.0008	0.0012	0.0002	0.0005	0.0003	0.0002	0.0004	0.0002	0.0001	0.0001	9.233e-05	0.0001	0.0022	0.0002	0	0.0002	0.0006	0.0034	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	299.62	6	chr1	41382209	.	CCA	CGGGACGCCCGCCTACTTCGGCGGCTGCA,C	299.62	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.350e-01;DP=485;ExcessHet=0.1072;FS=17.602;InbreedingCoeff=-0.0614;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=0.431;SOR=4.336	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:6,0,2:8:66:0|1:41382209_CCA_C:66,84,336,0,252,246:41382209	19	0	1	0
chr1	41382210	41382211	CA	-	exonic	FOXO6	.	frameshift deletion	FOXO6:NM_001291281:exon3:c.1009_1010del:p.Q337Gfs*39,	.	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	0.00073	19	26028	rs373524987	0.0043	0.0026	0.0045	0.0042	0.0067	0.0042	0.0042	0.0046	0.0041	0.0037	0.0031	0.0057	0.0067	0	0.0037	0.0043	0.0050	0.0039	4.089e-05	0.0013	5.307e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	299.62	6	chr1	41382209	.	CCA	CGGGACGCCCGCCTACTTCGGCGGCTGCA,C	299.62	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.350e-01;DP=485;ExcessHet=0.1072;FS=17.602;InbreedingCoeff=-0.0614;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=0.431;SOR=4.336	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:6,0,2:8:66:0|1:41382209_CCA_C:66,84,336,0,252,246:41382209	19	0	1	0
chr1	41382212	41382212	-	GGAC	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1011_1012insGGAC:p.A338Gfs*40,	.	.	580	911	21	4	6	35	0.0156672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	.	0.0043	0.0026	0.0045	0.0042	0.0068	0.0042	0.0042	0.0048	0.0041	0.0038	0.0030	0.0057	0.0068	0	0.0037	0.0043	0.0048	0.0039	4.088e-05	0.0009	5.306e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	59.52	7	chr1	41382212	.	G	GGGAC	59.52	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.887;DP=443;ExcessHet=0.0000;FS=6.214;InbreedingCoeff=-0.0341;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.44;ReadPosRankSum=0.00;SOR=2.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:41382209_CCA_C:66,0,246:41382209	20	0	1	0
chr1	43981907	43981907	G	A	exonic	B4GALT2	.	nonsynonymous SNV	B4GALT2:NM_001005417:exon3:c.G532A:p.V178I	.	.	431	1078	12	1	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.075	B	0.022	B	0.002	N	0.518	D	-1.115	N	1.58	T	-0.940	T	0.013	T	0.066	-0.355	2.322	0.376	-0.182	2.631	8.600	0.076	0.00775481769483	0.0012	0.000798722	0.0016	0.0002	0.0009	0	0	0.0021	0.0034	0.0021	0.0014359	222	154602	rs150178452	0.0011	0.0011	0.0010	0.0012	0.0108	0.0010	0.0010	0.0086	0.0078	0.0002	0.0006	0.0237	5.038e-05	0	0.0108	0.0005	0.0022	0.0023	0.0012	0.0012	0.0013	0.0011	0.0012	0.0010	0.0010	0.0005	0.0004	0.0001	0	0.0008	0.0297	0	0	0.0068	0.0006	0.0038	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.004	0.24198	B	0.007	0.19653	B	0.001734	0.38161	N	0.251268	0.517672	0.31871	D	-1.525	0.00485	N	1.58	0.29085	T	0.3	0.04091	N	0.145	0.15469	-0.9398	0.42648	T	0.013	0.04938	T	10	0.0074171424	0.00169	T	0.007755	0.20563	T	0.076	0.22200	.	.	0.136095386433	0.13204	0.2370472748320877	0.23619	0.46716595594	0.46101	0.34984588623	0.17899	T	0.060162	0.31311	T	-0.620057	0.00110	T	-0.670229	0.07593	T	0.00534657164301127	0.00058	T	0.828317	0.49240	T	0.013614455	0.00064	0.026159883	0.00691	0.013614455	0.00064	0.026159883	0.00691	-3.027	0.10475	T	.	.	0.060	0.00876	B	.;.;.;.	.;.;.;.	1.254287	0.16513	12.59	0.88300444665666356	0.17869	0.39243	0.26169	N	AEFGBCI	0.155338	0.28051	N	-0.969587343093542	0.09257	0.4374238	-0.799800517589365	0.14500	0.7579473	0.999919170367408	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.4	0.376	0.15424	2.632000	0.46177	1.116000	0.24201	0.654000	0.53741	1.000000	0.71638	0.061000	0.22037	0.880000	0.42090	0.6451:0.0:0.3549:0.0	8.600	0.32898	315	0.87208	Galactosyltransferase, N-terminal;.;Galactosyltransferase, 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	0.02381	2081.98	39	chr1	43981907	.	G	A	2081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.670e-01;DP=910;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-1.403e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/1:87,83:170:99:2096,0,2146	20	0	1	0
chr1	43995943	43995943	G	A	exonic	CCDC24	.	nonsynonymous SNV	CCDC24:NM_001349129:exon7:c.G305A:p.R102Q	.	.	420	1057	43	2	0	47	0.0217492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.003	B	0.001	B	0.320	N	1.000	N	-0.41	N	.	.	-1.056	T	0.029	T	0.087	1.405	10.63	-7.55	-1.530	-0.979	1.925	0.008	.	0.0005	0.00399361	0.0032	0.0004	0.0003	0.0003	0	0.0010	0.0088	0.0182	0.0027425	424	154602	rs142384645	0.0018	0.0018	0.0012	0.0024	0.0182	0.0017	0.0017	0.0175	0.0172	0.0004	0.0004	0.0010	0.0002	5.62e-05	0.0153	0.0007	0.0025	0.0182	0.0011	0.0011	0.0008	0.0014	0.0172	0.0010	0.0009	0.0142	0.0131	9.621e-05	0	0.0008	0.0023	0.0004	0	0.0204	0.0007	0.0033	0.0172	0.662	0.04671	T	0.429	0.13752	T	0.003	0.11197	B	0.001	0.04355	B	0.320142	0.04069	N	1.550060	1	0.08975	N	-1.1	0.00987	N	.	.	.	0.13	0.05503	N	0.032	0.00825	-1.0559	0.12803	T	0.029	0.12409	T	9	0.001950413	0.00027	T	.	.	.	0.008	0.00669	.	.	0.0954503805726	0.09146	0.07001160870663188	0.06938	0.0444665148545	0.04800	0.235512048006	0.02400	T	6.65E-4	0.00291	T	-0.773633	0.00012	T	-0.869767	0.00744	T	0.000264297947003674	0.00002	T	0.620638	0.23835	T	0.022738144	0.00958	0.025527406	0.00600	0.022738144	0.00958	0.025527406	0.00600	-3.716	0.19555	T	.	.	0.063	0.01555	B	.	.	-0.148397	0.03363	0.598	0.7658612605579761	0.11527	0.01631	0.05259	N	AEFBCI	0.083598	0.16937	N	-1.65262587755734	0.01024	0.04440356	-1.69864411206519	0.01143	0.05141937	0.999789365406696	0.43007	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.5	-7.55	0.01185	-1.475000	0.02441	-0.405000	0.09385	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.124000	0.19330	0.1656:0.1152:0.4911:0.228	1.925	0.03114	318	0.87072	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1930.98	36	chr1	43995943	.	G	A	1930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.520e-01;DP=853;ExcessHet=0.0000;FS=2.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=1.14;SOR=0.839	GT:AD:DP:GQ:PL	0/1:65,74:139:99:1945,0,1746	20	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	13423.2	21	chr1	50419106	.	G	*,A	13423.2	.	AC=12,30;AF=0.286,0.714;AN=42;BaseQRankSum=-4.990e-01;DP=670;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=12,30;MLEAF=0.286,0.714;MQ=59.92;MQRankSum=0.00;QD=23.55;ReadPosRankSum=-7.700e-01;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:1,0,29:30:84:.:.:960,962,965,84,87,0	0	2	0	0
chr1	55039879	55039879	-	CTGCTG	exonic	PCSK9	.	nonframeshift insertion	PCSK9:NM_174936:exon1:c.42_43insCTGCTG:p.L23_G24insLL,	Hypercholesterolemia, familial, 3	.	4	1235	252	23	8	306	0.107659	.	.	260592	not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|not_specified|Hypercholesterolemia,_autosomal_dominant,_3|Familial_hypercholesterolemia	MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	.	0.0022	0	0.0071	0	0	0.0043	0	0.0005	0.0009961	154	154602	rs35574083	0.0033	0.0032	0.0033	0.0032	0.0036	0.0032	0.0032	0.0034	0.0033	0.0006	0.0028	0.0083	5.416e-05	0.0041	0.0036	0.0035	0.0036	0.0009	0.0027	0.0027	0.0028	0.0026	0.0037	0.0025	0.0024	0.0029	0.0027	0.0010	0.0132	0.0037	0.0101	0	0.0031	0	0.0032	0.0043	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	9159.26	78	chr1	55039879	.	A	ACTG,ACTGCTG	9159.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=0.224;DP=1096;ExcessHet=1.7912;FS=0.533;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=20.63;ReadPosRankSum=1.11;SOR=0.729	GT:AD:DP:GQ:PL	0/1:44,37,0:81:99:1412,0,1712,1545,1823,3368	15	0	5	0
chr1	75211489	75211489	C	G	exonic	SLC44A5	.	nonsynonymous SNV	SLC44A5:NM_001320283:exon21:c.G2008C:p.E670Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.578	P	0.574	P	0.000	D	1.000	D	1.445	L	1.92	T	-1.095	T	0.071	T	0.346	4.280	22.4	5.29	2.624	5.778	19.273	0.182	0.0167415986855	.	0.000199681	0.0001	0	0	0	0	0	0.0011	0.0010	0.0001229	19	154602	rs529370554	6.712e-05	6.84e-05	4.089e-05	9.361e-05	0.0011	5.635e-05	5.178e-05	0.0009	0.0009	0	0	0	0	0	0	0	3.317e-05	0.0011	1.314e-05	1.312e-05	0	2.688e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.003	0.68238	D	0.003	0.76473	D	0.578	0.38765	P	0.491	0.47360	P	0.000006	0.62929	D	0.139939	0.999634	0.47961	D	2.38	0.68558	M	1.92	0.23082	T	-2.06	0.47175	N	0.477	0.51226	-1.0948	0.04781	T	0.071	0.29001	T	10	0.20886403	0.37230	T	0.016742	0.38138	T	0.182	0.45420	0.812	0.92788	0.218112801441	0.21410	0.8147291156271964	0.81428	0.676404375301	0.59761	0.444689273834	0.31218	T	0.084167	0.37217	T	-0.389819	0.02698	T	-0.378276	0.35925	T	0.404121071100235	0.29097	T	0.974503	0.90930	D	0.3762319	0.59042	0.3598018	0.61433	0.3762319	0.59043	0.3598018	0.61432	-4.225	0.28008	T	.	.	0.366	0.61572	A	.;.	.;.	3.823740	0.55226	23.6	0.99801358922064076	0.88639	0.98720	0.85993	D	AEFI	0.869478	0.79003	D	0.418261551130261	0.62427	4.458352	0.501747967862486	0.68110	5.174795	0.999999884977266	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.29	5.29	0.74430	5.854000	0.69242	6.012000	0.52660	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.273	0.94005	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1024.98	35	chr1	75211489	.	C	G	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-9.700e-02;SOR=0.704	GT:AD:DP:GQ:PL	0/1:52,41:93:99:1039,0,1291	20	0	1	0
chr1	81990481	81990481	G	T	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_012302:exon20:c.G3548T:p.G1183V	.	.	425	1055	42	0	0	42	0.0195167	.	.	3211183	ADGRL2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.495	L	-0.38	T	-0.807	T	0.191	T	0.571	1.647	11.47	4.6	1.284	7.343	16.018	0.362	.	0.0008	0.00259585	0.0021	9.61e-05	0.0005	0	0	0.0013	0.0055	0.0091	0.0018305	283	154602	rs143448377	0.0014	0.0014	0.0011	0.0016	0.0102	0.0013	0.0013	0.0083	0.0081	0.0001	0.0008	0.0030	2.519e-05	9.36e-05	0.0102	0.0008	0.0020	0.0088	0.0010	0.0010	0.0009	0.0011	0.0091	0.0009	0.0008	0.0070	0.0062	0.0002	0	0.0010	0.0012	0.0002	9.414e-05	0.0102	0.0010	0.0028	0.0091	0.001	0.78490	D	0.05	0.48594	T	0.995	0.67487	D	0.929	0.66367	D	0.000338	0.45700	D	0.187285	1	0.81001	D	.	.	.	-0.46	0.70597	T	-4.03	0.76740	D	0.684	0.70878	-0.8069	0.54736	T	0.191	0.54359	T	10	0.0074394643	0.00169	T	.	.	.	0.539	0.80723	.	.	0.082315109003	0.07666	0.4814075198055706	0.48060	0.567196384469	0.52991	0.55849480629	0.47055	T	0.067859	0.82202	T	-0.247787	0.14371	T	-0.122308	0.61613	T	0.141194857536656	0.16377	T	0.914708	0.73561	D	0.56956995	0.71037	0.5168769	0.72086	0.56956995	0.71038	0.5168769	0.72087	-3.675	0.22542	T	.	.	0.162	0.37633	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.611038	0.51059	23.0	0.99109637766004166	0.52699	0.92818	0.56620	D	AEFGBCI	0.951242	0.96562	D	0.221703935337338	0.52252	3.400531	0.261948915020974	0.53333	3.502685	0.999349580085339	0.39222	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.53	4.6	0.56512	7.460000	0.79850	8.639000	0.77885	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.483000	0.28633	0.0:0.1392:0.8607:0.0	16.018	0.80255	963	0.08280	GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal;.;.;GPCR, family 2, latrophilin, C-terminal;.;.;.;GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, 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	0.07143	5990.68	35	chr1	81990481	.	G	T	5990.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.524;DP=1194;ExcessHet=0.3300;FS=1.111;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.895;SOR=0.825	GT:AD:DP:GQ:PL	0/1:108,80:188:99:1973,0,2690	18	0	3	0
chr1	81990915	81990915	C	G	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_012302:exon20:c.C3982G:p.P1328A	.	.	438	1046	37	1	0	39	0.0183013	.	.	3210903	ADGRL2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.128	B	0.075	B	0.160	N	1.000	N	1.445	L	-0.32	T	-0.960	T	0.114	T	0.176	0.697	7.721	5.25	2.467	4.434	18.884	0.057	.	0.0008	0.00239617	0.0018	9.617e-05	0.0005	0	0	0.0012	0.0055	0.0076	0.0016171	250	154602	rs142267708	0.0012	0.0012	0.0010	0.0015	0.0087	0.0012	0.0012	0.0072	0.0070	0.0001	0.0008	0.0030	0	9.361e-05	0.0087	0.0008	0.0019	0.0077	0.0009	0.0009	0.0008	0.0009	0.0077	0.0008	0.0007	0.0057	0.0051	0.0002	0	0.0009	0.0012	0.0002	9.407e-05	0.0102	0.0009	0.0024	0.0077	0.375	0.18061	T	0.206	0.27056	T	0.128	0.27003	B	0.075	0.28327	B	0.159877	0.17697	N	0.561955	1	0.81001	D	.	.	.	-0.42	0.70717	T	-2.27	0.50666	N	0.302	0.34120	-0.9602	0.39143	T	0.114	0.40650	T	10	0.0053347647	0.00117	T	.	.	.	0.112	0.31546	.	.	0.082315109003	0.07666	0.4140615702400013	0.41322	0.11031533871	0.12446	0.379887998104	0.22241	T	0.056903	0.80086	T	-0.416679	0.01797	T	-0.366741	0.37271	T	0.0454788217630323	0.04690	T	0.911709	0.69400	D	0.048075262	0.08320	0.07846932	0.17579	0.048075262	0.08320	0.07846932	0.17578	-4.424	0.32472	T	.	.	0.079	0.11461	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.688237	0.21508	15.23	0.84900520384378553	0.15565	0.43642	0.27143	N	AEFBCI	0.589979	0.58665	D	0.00965783698767059	0.42293	2.545568	-0.00654706581580577	0.39417	2.336899	0.999451034309693	0.39788	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	4.688000	0.61403	4.927000	0.46095	0.599000	0.40250	0.296000	0.25288	0.578000	0.25607	0.855000	0.40485	0.0:1.0:0.0:0.0	18.884	0.92338	963	0.08280	GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal;.;.;GPCR, family 2, latrophilin, C-terminal;.;.;.;GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, 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	0.07143	6723.68	35	chr1	81990915	.	C	G	6723.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.83;DP=1120;ExcessHet=0.3300;FS=1.110;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-1.236e+00;SOR=0.812	GT:AD:DP:GQ:PL	0/1:97,103:200:99:2940,0,2692	18	0	3	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.0	B	0.089	N	0.999	N	-0.345	N	3.28	T	-0.932	T	0.002	T	0.048	2.206	13.34	2.91	0.308	0.889	1.797	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	606.1	33	chr1	85158755	.	A	G	606.1	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-2.537e+00;DP=1578;ExcessHet=3.5521;FS=65.892;InbreedingCoeff=-0.2459;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=-3.190e-01;SOR=9.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,21:102:67:.:.:67,0,2133	13	0	8	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.132	B	0.031	B	0.000	D	0.857	N	0.695	N	3.03	T	-1.001	T	0.008	T	0.208	2.236	13.43	5.05	1.496	3.035	15.424	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4722	3593.29	88	chr1	85158757	.	C	G	3593.29	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-5.110e-01;DP=1833;ExcessHet=25.1139;FS=163.566;InbreedingCoeff=-0.7941;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.78;ReadPosRankSum=0.475;SOR=12.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,32:99:99:.:.:450,0,1692	1	0	17	3
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:201,127,0,0:330:99:.:.:4406,0,7733,5098,7101,12050,5098,7101,12050,12050	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:201,127,0,0:330:99:.:.:4406,0,7733,5098,7101,12050,5098,7101,12050,12050	0	12	6	0
chr1	92697884	92697884	C	T	exonic	EVI5	.	nonsynonymous SNV	EVI5:NM_001308248:exon6:c.G873A:p.M291I	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.033	B	0.04	B	0.000	D	1.000	D	0.675	N	1.98	T	-1.060	T	0.023	T	0.962	2.925	15.75	5.6	2.633	6.077	19.597	0.309	0.0235264852585	.	.	0.0002	0	8.64e-05	0	0	0	0	0.0012	0.0001294	20	154602	rs200535224	7.6e-05	7.593e-05	5.177e-05	0.0001	0.0011	6.429e-05	6.009e-05	0.0009	0.0009	0	0	0	0	0	0.0002	1.08e-05	3.314e-05	0.0011	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.268	0.16144	T	0.395	0.15255	T	0.033	0.20350	B	0.04	0.23831	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.8	0.19659	N	1.98	0.21865	T	-1.79	0.42191	N	0.885	0.89242	-1.0599	0.11781	T	0.023	0.09832	T	10	0.28651103	0.46233	T	0.023526	0.46494	T	0.309	0.63055	0.537	0.64730	0.350307294319	0.34646	0.6927224875181409	0.69212	0.370074800764	0.38539	0.829637765884	0.86507	D	0.015965	0.13288	T	-0.0980275	0.36751	T	0.0408621	0.72984	D	0.10691695621524	0.13100	T	0.821518	0.48098	T	0.39506978	0.60389	0.3746165	0.62623	0.39506978	0.60390	0.3746165	0.62623	-4.22	0.27169	T	.	.	0.783	0.76497	P	.;.	.;.	4.080937	0.60700	24.2	0.9860804838753352	0.43598	0.93769	0.59138	D	AEFBHCI	0.716073	0.66802	D	0.0248631807937105	0.42988	2.600643	0.243263178954574	0.52266	3.402705	0.99999999872798	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.6	5.6	0.84997	7.894000	0.85895	6.019000	0.52765	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.597	0.95539	341	0.85936	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1537.98	44	chr1	92697884	.	C	T	1537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.500e-02;DP=957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=0.345;SOR=0.740	GT:AD:DP:GQ:PL	0/1:67,64:131:99:1552,0,1603	20	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.913	P	0.503	P	0.002	N	0.999	D	1.525	L	1.57	T	-1.113	T	0.049	T	0.261	3.205	16.73	5.8	2.216	7.642	16.134	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4048	7236.94	34	chr1	99884396	.	T	C	7236.94	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-4.178e+00;DP=2325;ExcessHet=25.1139;FS=198.804;InbreedingCoeff=-0.6802;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=3.71;ReadPosRankSum=1.56;SOR=12.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:95,30:125:99:.:.:267,0,2028	4	0	17	0
chr1	109250116	109250116	-	CGC	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.37_38insCGC:p.P16_L17insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:2,54,0:56:99:1503,118,0,1509,162,1553	1	11	8	0
chr1	109250114	109250116	CGC	-	exonic	CELSR2	.	nonframeshift deletion	CELSR2:NM_001408:exon1:c.35_37del:p.P16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	3.557e-05	7.286e-06	5.903e-06	3.316e-05	3.11e-06	2.25e-06	8.9e-07	6e-07	3.316e-05	0	0	2.792e-05	0	0	3.793e-06	3.555e-05	1.259e-05	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:2,54,0:56:99:1503,118,0,1509,162,1553	1	11	8	0
chr1	109296860	109296860	C	T	exonic	MYBPHL	.	nonsynonymous SNV	MYBPHL:NM_001010985:exon5:c.G653A:p.R218H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	0.996	D	4.54	H	-2.91	D	0.967	D	0.912	D	0.898	3.920	19.94	3.1	1.355	2.946	9.877	0.760	0.113884012911	0.0030	0.000998403	0.0023	0.0007	0.0016	0.0010	0.0009	0.0035	0.0011	0.0007	0.0023803	368	154602	rs151201446	0.0038	0.0038	0.0039	0.0037	0.0046	0.0037	0.0037	0.0045	0.0045	0.0006	0.0021	0.0004	0.0003	0.0006	0.0005	0.0046	0.0031	0.0007	0.0026	0.0026	0.0028	0.0025	0.0046	0.0024	0.0023	0.0041	0.0040	0.0008	0	0.0022	0.0012	0.0004	0.0008	0.0068	0.0046	0.0019	0.0008	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.996363	0.43162	D	4.84	0.99705	H	-2.91	0.91696	D	-4.81	0.80767	D	0.839	0.83473	0.967	0.96657	D	0.912	0.97093	D	9	0.13706532	0.26075	T	0.113884	0.79254	D	0.760	0.91837	.	.	0.973786024211	0.97350	0.4712323227771836	0.47042	0.689962583581	0.60511	0.303724884987	0.10959	T	0.199973	0.55742	T	0.107412	0.65082	D	0.383848	0.91565	D	0.13877521384704	0.16169	T	0.993201	0.97808	D	0.43906623	0.63342	0.46811417	0.69146	0.43906623	0.63343	0.46811417	0.69147	-10.192	0.75052	D	.	.	0.346	0.56317	A	.	.	3.393745	0.46997	22.4	0.99951925462142499	0.99951	0.93072	0.57256	D	AEFDBI	0.488867	0.52701	N	0.717697838652521	0.80791	7.373527	0.534906747334722	0.70354	5.492917	0.999999238300328	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.01	3.1	0.34780	3.134000	0.50233	0.539000	0.19316	0.599000	0.40250	0.994000	0.38300	0.064000	0.22093	0.469000	0.28319	0.0:0.8282:0.0:0.1718	9.877	0.40382	644	0.63734	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2101.98	45	chr1	109296860	.	C	T	2101.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.795;DP=1299;ExcessHet=0.0000;FS=0.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=-1.910e-01;SOR=0.742	GT:AD:DP:GQ:PL	0/1:107,84:191:99:2116,0,2683	20	0	1	0
chr1	110894978	110894978	A	G	exonic	CD53	.	nonsynonymous SNV	CD53:NM_000560:exon5:c.A346G:p.K116E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.458	N	1.000	N	0.035	N	-2.15	D	-0.902	T	0.119	T	0.056	-1.274	0.044	0.353	0.284	-0.118	4.658	0.125	0.014079922691	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs780511824	2.6e-05	2.599e-05	1.634e-05	3.576e-05	0.0004	1.933e-05	1.692e-05	0.0003	0.0003	0	0	0	0	0	0	8.995e-07	4.969e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.825	0.02921	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.457676	0.12430	N	0.791165	1	0.08975	N	-0.59	0.02258	N	-2.15	0.86481	D	0.2	0.04861	N	0.122	0.11340	-0.9019	0.47792	T	0.119	0.41604	T	10	0.034025162	0.01596	T	0.01408	0.33954	T	0.125	0.34456	0.387	0.40788	0.49179695788	0.48811	0.3720340806662581	0.37117	0.335353309124	0.35541	0.271407842636	0.06325	T	0.189028	0.54312	T	-0.419251	0.01729	T	-0.539678	0.18327	T	0.0176800359101549	0.00499	T	0.446155	0.12501	T	0.10889673	0.25746	0.052561197	0.08682	0.10889673	0.25746	0.052561197	0.08681	-3.571	0.17438	T	.	.	0.096	0.15832	B	.;.	.;.	-0.075839	0.03788	0.798	0.26609314296154113	0.01283	0.00952	0.03663	N	AEFBCI	0.052341	0.09333	N	-1.50490776676171	0.01817	0.07966102	-1.44848452661624	0.02784	0.1286741	0.990117858849134	0.32043	0.645754	0.44609	0	0.696144	0.67643	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.46	0.353	0.15294	-0.095000	0.11043	0.453000	0.18541	-0.818000	0.02990	0.001000	0.13787	0.004000	0.18990	0.015000	0.10482	0.3316:0.1557:0.5127:0.0	4.658	0.12014	507	0.75469	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1569.98	35	chr1	110894978	.	A	G	1569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.150e-01;DP=815;ExcessHet=0.0000;FS=3.376;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=0.248;SOR=0.439	GT:AD:DP:GQ:PL	0/1:55,63:118:99:1584,0,1420	20	0	1	0
chr1	114587887	114587887	A	G	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon16:c.T2326C:p.Y776H	.	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.97	M	-0.58	T	0.312	D	0.546	D	0.956	5.024	29.6	5.91	2.276	8.919	16.394	0.905	0.0801636321076	0.0041	0.00159744	0.0033	0.0011	0.0010	0	0.0009	0.0052	0.0011	0.0015	0.0034605	535	154602	rs61753528	0.0046	0.0046	0.0047	0.0045	0.0055	0.0045	0.0045	0.0054	0.0053	0.0009	0.0011	0.0026	0	0.0017	0.0017	0.0055	0.0030	0.0019	0.0030	0.0030	0.0031	0.0029	0.0054	0.0028	0.0027	0.0049	0.0047	0.0010	0	0.0010	0.0029	0.0002	0.0011	0	0.0054	0.0038	0.0019	0.0	0.91255	D	0.0	0.92824	D	0.987	0.90584	D	0.933	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.025	0.86340	M	-0.58	0.71425	T	-4.54	0.78472	D	0.967	0.98563	0.312	0.87747	D	0.546	0.83312	D	10	0.078736424	0.12585	T	0.080164	0.73398	D	0.905	0.97398	.	.	0.911996767079	0.91111	0.7628383842687635	0.76231	0.425250146207	0.42939	0.835372328758	0.87386	D	0.274982	0.64750	T	0.0629983	0.59988	T	0.318945	0.89047	D	0.0353943314425513	0.02875	T	0.991801	0.97430	D	0.792126	0.83406	0.7392953	0.84590	0.792126	0.83408	0.7392953	0.84591	-9.552	0.72559	D	.	.	0.858	0.84820	P	.;.;.	.;.;.	4.956907	0.81928	27.7	0.99876246065982677	0.95328	0.99684	0.98644	D	AEGBHI	0.927293	0.90973	D	0.921965054466931	0.92793	11.63243	0.888391242105138	0.95045	13.264	0.999999999776117	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.91	5.91	0.95240	8.947000	0.92735	11.137000	0.86960	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.394	0.83387	731	0.54177	.;Tripartite DENN domain|dDENN domain;Tripartite DENN domain|dDENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1746.98	35	chr1	114587887	.	A	G	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.579;DP=876;ExcessHet=0.0000;FS=2.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=0.484;SOR=0.878	GT:AD:DP:GQ:PL	0/1:59,71:130:99:1761,0,1364	20	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.033	B	0.015	B	0.000	D	0.999	D	-1.545	N	.	.	-0.951	T	0.015	T	0.585	0.535	6.895	5.89	2.787	4.426	15.011	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	6766.73	121	chr1	114732648	.	C	G	6766.73	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.661e+00;DP=3409;ExcessHet=54.0936;FS=245.736;InbreedingCoeff=-0.9995;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.26;ReadPosRankSum=1.31;SOR=12.755	GT:AD:DP:GQ:PL	0/1:114,34:157:98:98,0,2037	0	0	21	0
chr1	117623709	117623709	A	G	exonic	TENT5C	.	nonsynonymous SNV	TENT5C:NM_017709:exon2:c.A841G:p.I281V,	.	.	.	.	.	.	.	.	.	.	.	137967	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.56	T	0.232	B	0.084	B	0.000	D	1.000	D	1.055	L	1.85	T	-1.069	T	0.021	T	0.311	0.977	8.986	4.51	2.169	7.017	11.805	0.119	0.00486615973033	0.0029	0.00119808	0.0027	0.0009	0.0003	0	0.0021	0.0043	0.0033	0.0005	0.0027684	428	154602	rs77871185	0.0036	0.0036	0.0037	0.0036	0.0043	0.0036	0.0035	0.0042	0.0042	0.0003	0.0008	0	0	0.0035	0	0.0043	0.0027	0.0010	0.0026	0.0026	0.0028	0.0024	0.0042	0.0024	0.0023	0.0038	0.0036	0.0009	0.0197	0.0009	0	0	0.0029	0	0.0042	0.0024	0.0010	0.448	0.09048	T	0.493	0.11443	T	0.232	0.30664	B	0.084	0.29270	B	0.000105	0.50451	D	0.081357	1	0.81001	D	.	.	.	1.85	0.24472	T	-0.58	0.17417	N	0.349	0.39052	-1.0693	0.09567	T	0.021	0.08639	T	10	0.006962985	0.00158	T	0.004866	0.12192	T	0.119	0.33137	.	.	0.265735104816	0.26182	0.25802276368522026	0.25716	0.575116630912	0.53524	0.705684065819	0.67967	T	0.037883	0.24641	T	-0.473453	0.00809	T	-0.449133	0.27792	T	0.0250989641593357	0.01286	T	0.875013	0.58582	D	0.108590655	0.25675	0.078475334	0.17579	0.108590655	0.25675	0.078475334	0.17578	-4.228	0.27155	T	.	.	0.087	0.11366	B	.	.	2.402346	0.30868	18.57	0.96711199926166014	0.30814	0.91615	0.53899	D	AEFDGBCI	0.867627	0.78747	D	-0.0077772265424035	0.41503	2.483611	0.161708791173484	0.47765	3.001913	0.999999999175911	0.74766	0.536767	0.22168	0	0.383324	0.06291	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.7	4.51	0.54589	7.020000	0.76158	7.941000	0.75483	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.8535:0.1465:0.0:0.0	11.805	0.51422	685	0.59416	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3167.98	39	chr1	117623709	.	A	G	3167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e-01;DP=1023;ExcessHet=0.0000;FS=1.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.696;SOR=0.618	GT:AD:DP:GQ:PL	0/1:107,122:229:99:3182,0,2781	20	0	1	0
chr1	119926524	119926524	T	C	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_024408:exon24:c.A3980G:p.D1327G,	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	.	5	1401	110	6	0	122	0.0417237	.	.	138711	not_specified|not_provided|Hajdu-Cheney_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.86	T	0.101	B	0.061	B	0.028	U	0.640	D	-0.33	N	-2.83	D	-0.782	T	0.259	T	0.558	1.562	11.18	5.64	2.276	2.219	15.329	0.401	.	0.0050	0.0109824	0.0169	0.0015	0.0056	0.0004	0.0039	0.0109	0.0240	0.0642	0.0107825	1667	154602	rs61752484	0.0090	0.0091	0.0077	0.0104	0.0522	0.0089	0.0088	0.0509	0.0504	0.0012	0.0043	0.0051	0.0001	0.0027	0.0266	0.0068	0.0090	0.0522	0.0061	0.0061	0.0059	0.0062	0.0440	0.0057	0.0056	0.0392	0.0373	0.0016	0.0066	0.0040	0.0081	0	0.0027	0.0136	0.0074	0.0071	0.0440	0.411	0.10115	T	0.407	0.14679	T	0.101	0.25775	B	0.061	0.26820	B	0.028087	0.25656	U	0.187689	0.63999	0.32867	D	0.36	0.11994	N	-2.83	0.91249	D	-0.83	0.22727	N	0.233	0.26233	-0.7823	0.56172	T	0.259	0.62955	T	10	0.005875975	0.00132	T	.	.	.	0.401	0.71479	.	.	.	.	0.5572658966142893	0.55653	0.902817761121	0.70701	0.378910720348	0.22102	T	0.340968	0.70992	T	-0.255136	0.13476	T	-0.102017	0.63241	T	0.0107099988816602	0.00151	T	0.783822	0.42110	T	0.15419918	0.34914	0.12176654	0.29377	0.15419918	0.34914	0.12176654	0.29376	-4.607	0.32260	T	0.08702335474015384	0.05070	0.108	0.20391	B	.	.	3.766816	0.54085	23.4	0.96812852524452542	0.31195	0.90332	0.51424	D	AEFBI	0.296564	0.40637	N	-0.406180722580298	0.25253	1.369426	-0.157145179363137	0.33134	1.892235	0.999933978369673	0.46732	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	2.183000	0.42195	4.071000	0.41665	0.665000	0.62972	0.647000	0.28146	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	15.329	0.73896	825	0.40060	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2960.11	33	chr1	119926524	.	T	C	2960.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.089;DP=920;ExcessHet=0.1072;FS=3.752;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=0.664;SOR=0.941	GT:AD:DP:GQ:PL	0/1:58,66:124:99:1554,0,1320	19	0	2	0
chr1	144905947	144905947	C	T	exonic	SRGAP2B	.	nonsynonymous SNV	SRGAP2B:NM_001385227:exon5:c.G551A:p.R184H	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1351671972	0.0082	0.0076	0.0086	0.0079	0.0109	0.0080	0.0079	0.0106	0.0105	0.0014	0.0035	0.0230	0	0.0041	0	0.0109	0.0097	0.0014	0.0071	0.0070	0.0076	0.0066	0.0111	0.0067	0.0066	0.0104	0.0102	0.0018	0	0.0044	0.0239	0	0.0052	0	0.0111	0.0035	0.0018	.	.	.	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.41063	.	.	.	.	.	.	.	0.02462086	0.00684	T	.	.	.	.	.	.	.	.	.	0.4651430743002669	0.46433	.	.	.	.	.	0.024893	0.18723	T	.	.	.	.	.	.	.	.	.	0.979902	0.93196	D	.	.	.	.	.	.	.	.	-6.657	0.51486	T	.	.	0.186	0.46938	B	.;.;.	.;.;.	5.441154	0.90940	32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.695000	0.67940	6.013000	0.52675	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	.	.	.	614	0.66605	F-BAR domain;F-BAR domain;F-BAR domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	436.98	20	chr1	144905947	.	C	T	436.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=425;ExcessHet=0.0000;FS=6.761;InbreedingCoeff=-0.0249;MLEAC=1;MLEAF=0.024;MQ=30.39;MQRankSum=0.102;QD=18.21;ReadPosRankSum=1.56;SOR=0.557	GT:AD:DP:GQ:PL	0/1:8,16:24:99:451,0,186	20	0	1	0
chr1	145242006	145242006	C	T	exonic	PPIAL4D;PPIAL4E;PPIAL4F	.	nonsynonymous SNV	PPIAL4E:NM_001144032:exon1:c.G119A:p.S40N	.	.	.	.	.	.	.	.	.	.	.	2341926	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.14	B	0.187	B	0.001	U	0.987	N	1.485	L	0.92	T	-1.018	T	0.040	T	0.18	1.466	10.85	0.419	0.473	2.762	6.629	0.082	0.144973943058	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1172283094	0.0085	0.0081	0.0088	0.0082	0.0101	0.0083	0.0083	0.0099	0.0098	0.0010	0.0039	0.0203	0	0.0036	0.0003	0.0101	0.0093	0.0012	0.0055	0.0057	0.0060	0.0050	0.0090	0.0052	0.0051	0.0083	0.0081	0.0014	0	0.0041	0.0197	0	0.0038	0	0.0090	0.0035	0.0013	0.104	0.29959	T	0.076	0.42614	T	.	.	.	.	.	.	0.000663	0.42516	U	0.235838	0.987244	0.24536	N	.	.	.	0.92	0.44461	T	-2.42	0.53096	N	0.351	0.39254	-1.0180	0.24366	T	0.040	0.17404	T	10	0.046268016	0.03796	T	0.144974	0.82720	D	.	.	0.735	0.86806	0.0297737177859	0.01360	0.28233080156537	0.28146	.	.	0.542795062065	0.44840	T	0.036137	0.23989	T	-0.212465	0.19033	T	-0.542968	0.18006	T	0.437840729951859	0.30349	T	0.246275	0.03611	T	0.11299163	0.26688	0.11391963	0.27496	0.11299163	0.26688	0.11391963	0.27495	-11.642	0.83063	D	.	.	0.222	0.45285	B	.	.	1.402932	0.18172	13.59	0.87159605435859233	0.17030	0.53535	0.29395	D	AEFI	0.231678	0.35487	N	-0.620571799912635	0.18327	0.9505972	-0.699736105483794	0.16967	0.9000518	0.00182733019137539	0.08920	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.419	0.419	0.15657	2.906000	0.48432	0.619000	0.20111	0.213000	0.18003	1.000000	0.71638	0.999000	0.35428	0.114000	0.18915	0.0:0.9998:0.0:2.0E-4	6.629	0.22038	485	0.77085	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	102.37	15	chr1	145242006	.	C	T	102.37	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.343;DP=248;ExcessHet=0.0000;FS=5.006;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.025;MQ=24.44;MQRankSum=-2.040e-01;QD=5.39;ReadPosRankSum=1.45;SOR=0.045	GT:AD:DP:GQ:PL	0/1:13,6:19:99:116,0,323	19	0	1	1
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	2354.68	101	chr1	145872713	.	C	G	2354.68	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.628e+00;DP=2761;ExcessHet=20.9642;FS=143.279;InbreedingCoeff=-0.5874;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.894;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,16:127:1:0|1:145872713_C_G:1,0,3901:145872713	5	0	16	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	2100.21	101	chr1	145872714	.	C	G	2100.21	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-4.135e+00;DP=2664;ExcessHet=14.4320;FS=138.726;InbreedingCoeff=-0.4963;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=1.14;ReadPosRankSum=0.919;SOR=11.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,16:127:1:0|1:145872713_C_G:1,0,3901:145872713	6	0	14	1
chr1	146067235	146067235	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon85:c.G10582A:p.E3528K	.	.	651	848	21	2	0	25	0.0145264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.713	P	0.678	P	.	.	1.000	N	0.55	N	4.03	T	-1.014	T	0.003	T	0.362	-2.093	0.006	.	-2.037	-2.442	.	0.051	.	.	.	0.3095	0.25	0	0	.	0.3557	0.5	0.25	0.0018826	49	26028	rs782346895	0.0009	0.0030	0.0007	0.0010	0.0046	0.0008	0.0008	0.0040	0.0037	0.0016	0.0017	0.0002	0.0046	0.0005	0.0010	0.0004	0.0011	0.0008	0.0005	0.0017	0.0005	0.0005	0.0016	0.0004	0.0004	0.0007	0.0006	0.0010	0	0.0006	0	0.0016	0.0002	0	0.0001	0.0007	0.0011	.	.	.	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.25867	.	.	.	.	.	.	.	0.028234512	0.00958	T	.	.	.	.	.	.	.	.	.	0.008707865764252615	0.00834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676832	0.35895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.52285	B	.;.	.;.	-0.114190	0.03558	0.685	.	.	.	.	.	.	0.017718	0.00484	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.877000	0.04305	0.000000	0.13247	.	.	0.001000	0.13787	0.033000	0.21346	.	.	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.09524	552.03	20	chr1	146067235	.	C	T	552.03	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.114e+00;DP=529;ExcessHet=0.6776;FS=6.040;InbreedingCoeff=-0.1073;MLEAC=4;MLEAF=0.095;MQ=43.46;MQRankSum=-3.188e+00;QD=3.94;ReadPosRankSum=-5.070e-01;SOR=0.336	GT:AD:DP:GQ:PL	0/1:19,12:31:99:204,0,525	17	0	4	0
chr1	148482828	148482828	A	G	exonic	PPIAL4G	.	nonsynonymous SNV	PPIAL4G:NM_001123068:exon1:c.T425C:p.M142T,	.	.	460	1058	4	0	0	4	0.00188679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.627	P	0.471	P	0.000	U	0.995	N	3.14	M	0.86	T	-0.967	T	0.112	T	0.631	1.355	10.45	0.523	0.493	6.277	5.396	0.241	.	.	.	0.0085	0.0008	0.0005	0.0002	0	9.674e-05	0.0047	0.0576	3.84e-05	1	26028	rs1434005006	0.0041	0.0042	0.0023	0.0058	0.0605	0.0040	0.0039	0.0591	0.0585	0.0008	0.0003	4.06e-05	0.0002	4.946e-05	0.0021	0.0002	0.0041	0.0605	0.0023	0.0027	0.0014	0.0033	0.0675	0.0021	0.0020	0.0613	0.0589	0.0006	0	0.0003	0	0.0002	0	0	0.0001	0.0005	0.0675	0.024	0.47745	D	0.041	0.50514	D	.	.	.	.	.	.	0.000000	0.84330	U	0.000000	0.992212	0.23917	N	.	.	.	0.86	0.46777	T	-4.05	0.74504	D	0.62	0.63544	-1.0402	0.17253	T	0.057	0.23942	T	7	0.023180366	0.00599	T	0.001176	0.01484	T	.	.	.	.	0.143184338766	0.13958	0.775643807566539	0.77514	.	.	0.696464717388	0.66634	T	0.038105	0.24721	T	-0.0465463	0.44969	T	-0.304637	0.44233	T	0.823889195919037	0.48063	D	0.340966	0.07383	T	0.3696158	0.58557	0.40903258	0.65204	0.3696158	0.58557	0.40903258	0.65204	-7.782	0.59574	D	.	.	0.156	0.34602	B	.	.	1.874707	0.23810	16.16	0.52689133183973169	0.04796	0.78012	0.38428	D	AEFI	0.330855	0.43077	N	-0.373197041573718	0.26428	1.442239	-0.564576143488025	0.20419	1.100055	1.0494678536686E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	6.559000	0.73842	2.070000	0.30439	0.261000	0.18407	1.000000	0.71638	0.996000	0.32793	0.161000	0.20682	0.9996:0.0:4.0E-4:0.0	4.622	0.11842	.	.	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase 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	0.04762	697.46	32	chr1	148482828	.	A	G	697.46	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.917e+00;DP=599;ExcessHet=0.1072;FS=2.175;InbreedingCoeff=-0.0584;MLEAC=2;MLEAF=0.048;MQ=28.92;MQRankSum=0.566;QD=10.11;ReadPosRankSum=1.14;SOR=1.014	GT:AD:DP:GQ:PL	0/1:16,15:31:99:393,0,408	19	0	2	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C	.	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	4.24	T	-0.912	T	0.002	T	0.328	-0.960	0.324	0.43	-1.589	-0.069	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	30341.43	581	chr1	149075685	.	C	A	30341.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.56;DP=9689;ExcessHet=43.6797;FS=6.799;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.24;MQRankSum=-6.707e+00;QD=3.24;ReadPosRankSum=-1.735e+00;SOR=1.328	GT:AD:DP:GQ:PL	0/1:493,96:589:99:1103,0,12944	1	0	20	0
chr1	149079127	149079127	C	G	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon4:c.G373C:p.E125Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.007	B	0.002	B	.	.	1.000	N	.	.	4.39	T	-0.954	T	0.001	T	0.321	-3.071	0.001	-1.04	-0.770	-0.311	.	0.025	.	.	.	0.0644	0.0770	0.0487	0.0410	0.0303	0.0633	0.0866	0.0969	0.0106808	278	26028	.	8.799e-07	7.127e-05	1.795e-06	0	1.217e-06	0	0	.	.	0	0	0	0	0	0	1.217e-06	0	0	6.917e-05	0.0006	9.41e-05	4.275e-05	0.0002	3.691e-05	2.843e-05	6.773e-05	4.555e-05	0.0002	0	0	0	0.0002	9.903e-05	0	1.515e-05	0	0.0002	.	.	.	0.199	0.27679	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.05414	-0.9539	0.40292	T	0.001	0.00318	T	6	0.0030939877	0.00051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547456741333	0.45498	T	.	.	.	-0.147531	0.28698	T	-0.449695	0.27730	T	0.00119219371206561	0.00012	T	0.891311	0.66975	D	0.099779524	0.23552	0.08344974	0.19124	0.099779524	0.23552	0.08344974	0.19124	-9.559	0.71226	D	.	.	0.079	0.36869	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.030248	0.04496	1.203	0.057885152920866254	0.00015	0.00003	0.00079	N	AEFI	0.013383	0.00176	N	-1.68197913367445	0.00907	0.03928493	-1.79824352941992	0.00765	0.03410724	1.92802502388975E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	0.521	-1.04	0.09555	-0.551000	0.06117	-1.586000	0.05115	-1.150000	0.01427	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	35.49	40	chr1	149079127	.	C	G	35.49	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.737e+00;DP=586;ExcessHet=0.3300;FS=43.974;InbreedingCoeff=-0.0799;MLEAC=2;MLEAF=0.050;MQ=34.99;MQRankSum=-2.131e+00;QD=0.51;ReadPosRankSum=-1.054e+00;SOR=5.133	GT:AD:DP:GQ:PL	0/1:27,3:30:4:4,0,984	17	0	3	1
chr1	151612460	151612460	G	C	exonic	SNX27	.	nonsynonymous SNV	SNX27:NM_001330723:exon1:c.G259C:p.G87R	.	YES	404	1117	1	0	0	1	0.000447427	.	.	1450596	Severe_myoclonic_epilepsy_in_infancy	MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208,Orphanet:33069	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.679	P	0.333	B	0.000	N	1.000	D	2.805	M	1.02	T	-0.937	T	0.100	T	0.472	3.975	20.3	3.77	1.795	8.255	13.416	0.248	0.70026490047	.	.	2.705e-05	0	0	0	0	0	0	0.0004	1.29e-05	2	154602	rs750944911	8.647e-06	1.163e-05	4.6e-06	1.291e-05	8.469e-05	4.64e-06	3.39e-06	3.273e-05	2.095e-05	0	0	0	0	0	0	4.891e-06	1.92e-05	8.469e-05	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.278	0.17410	T	0.294	0.20745	T	0.679	0.41373	P	0.333	0.42166	B	0.000029	0.55875	N	0.071142	1	0.81001	D	2.46	0.71463	M	1.02	0.40749	T	-2.86	0.60188	D	0.531	0.56403	-0.9366	0.43149	T	0.100	0.37239	T	10	0.72631824	0.73997	D	0.700265	0.97546	D	0.248	0.55615	0.829	0.93915	0.102598925029	0.09809	0.7924830973634446	0.79201	1.72089044569	0.90581	0.956874251366	0.99872	D	0.267037	0.63904	T	-0.0438438	0.45377	T	-0.300755	0.44646	T	0.978244483470917	0.72232	D	0.965203	0.87805	D	0.6621882	0.76016	0.56241	0.74678	0.6621882	0.76017	0.56241	0.74679	-8.63	0.65287	D	.	.	0.647	0.73103	P	.;.	.;.	5.512518	0.91698	32	0.99661123100967308	0.77947	0.81267	0.40707	D	AEFDGBHCI	0.882633	0.81090	D	0.424984563218663	0.62801	4.501994	0.41864796540809	0.62726	4.493076	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.77	3.77	0.42499	6.739000	0.74629	10.948000	0.84382	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	13.416	0.60414	283	0.88803	.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1336.98	35	chr1	151612460	.	G	C	1336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.230e-01;DP=847;ExcessHet=0.0000;FS=0.654;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=0.559;SOR=0.582	GT:AD:DP:GQ:PL	0/1:73,61:134:99:1351,0,1818	20	0	1	0
chr1	151909363	151909363	C	G	exonic	THEM4	.	nonsynonymous SNV	THEM4:NM_053055:exon1:c.G96C:p.E32D,	.	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	0.960	U	1.000	N	0.69	N	2.44	T	-0.949	T	0.009	T	0.106	0.328	5.777	-1.75	-0.406	-0.633	0.521	0.015	0.0030380341247	.	0.000199681	0.0022	0	0	0	0	0.0003	0	0.0035	0.0002199	34	154602	rs552104788	0.0003	0.0003	0.0002	0.0004	0.0034	0.0003	0.0002	0.0030	0.0029	7.08e-05	3.035e-05	0	0	0	0.0021	7.211e-05	0.0005	0.0034	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	0	0	0.0004	0	0	0	0.0102	0.0001	0.0005	0.0023	0.614	0.43708	T	0.56	0.33000	T	0.0	0.02946	B	0.0	0.01387	B	0.960290	0.07713	U	1.046590	1	0.08975	N	0	0.06538	N	2.44	0.23688	T	-0.45	0.19085	N	0.049	0.02272	-0.9493	0.41092	T	0.009	0.03315	T	10	0.0040884614	0.00080	T	0.003038	0.06547	T	0.015	0.02232	0.082	0.00727	0.0138822411134	0.00435	0.14839008482213595	0.14761	0.069198310528	0.07746	0.58636534214	0.50982	T	0.259212	0.63046	T	-0.628623	0.00098	T	-0.677539	0.07135	T	0.0148750423929012	0.00315	T	0.164984	0.01519	T	0.047714602	0.08201	0.043341335	0.05370	0.047714602	0.08201	0.043341335	0.05369	-3.923	0.22647	T	.	.	0.114	0.33981	B	.;.	.;.	0.425172	0.07959	4.668	0.67805792291602818	0.08465	0.00018	0.00208	N	ALL	0.027241	0.02191	N	-1.43446163497796	0.02341	0.1032949	-1.50299055477658	0.02321	0.1065657	0.999999999999707	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	2.69	-1.75	0.07598	-0.623000	0.05643	-0.391000	0.09475	-0.304000	0.06167	0.000000	0.06391	0.000000	0.08366	0.107000	0.18608	0.1964:0.3568:0.1927:0.254	0.521	0.00572	575	0.70088	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	357.98	33	chr1	151909363	.	C	G	357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.500e-01;DP=771;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.07;ReadPosRankSum=-9.600e-02;SOR=0.853	GT:AD:DP:GQ:PL	0/1:39,20:59:99:372,0,976	20	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	1186.66	278	chr1	152214827	.	A	C,*	1186.66	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.86;DP=4621;ExcessHet=11.8493;FS=40.936;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.91;MQRankSum=2.09;QD=0.32;ReadPosRankSum=-5.707e+00;SOR=11.070	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,24,0:243:99:0|1:152214821_T_A:312,0,9050,971,9122,10093:152214821	8	0	3	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	998.62	267	chr1	152214830	.	C	CATGTTGGCCACAG,*	998.62	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.04;DP=4604;ExcessHet=11.8493;FS=41.163;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.81;MQRankSum=1.90;QD=0.27;ReadPosRankSum=-5.805e+00;SOR=11.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,20,0:232:99:0|1:152214821_T_A:202,0,8826,840,8887,9726:152214821	8	0	3	0
chr1	152218574	152218574	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G3055A:p.G1019R,	.	.	416	1072	34	0	0	34	0.0156107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.546	P	0.051	B	.	.	1.000	N	0.46	N	4.58	T	-0.935	T	0.001	T	0.094	0.191	5.029	1.04	0.133	-1.392	5.238	0.011	.	0.0008	0.00339457	0.0024	0.0003	0.0009	0.0003	0.0008	0.0006	0.0055	0.0141	0.0021086	326	154602	rs150117899	0.0013	0.0013	0.0009	0.0017	0.0232	0.0012	0.0012	0.0200	0.0188	0.0004	0.0005	0.0003	7.56e-05	0.0003	0.0232	0.0004	0.0019	0.0132	0.0009	0.0009	0.0007	0.0010	0.0133	0.0007	0.0007	0.0107	0.0098	0.0002	0	0.0002	0	0.0002	0	0.0170	0.0006	0.0024	0.0133	0.113	0.28772	T	0.078	0.42261	T	0.546	0.38028	P	0.051	0.25434	B	.	.	.	.	1	0.08975	N	1.54	0.38927	L	4.58	0.01901	T	-1.73	0.41046	N	0.053	0.02462	-0.9355	0.43318	T	0.001	0.00438	T	9	0.003388822	0.00059	T	.	.	.	0.011	0.01250	0.278	0.23164	0.350307294319	0.34646	0.0024863189592469093	0.00230	.	.	0.580455064774	0.50149	T	0.031719	0.22169	T	-0.706007	0.00034	T	-0.775875	0.02580	T	0.00664501759776044	0.00074	T	0.321768	0.06536	T	0.045579843	0.07485	0.07004887	0.14837	0.045579843	0.07484	0.07004887	0.14836	-5.706	0.43747	T	.	.	0.140	0.30608	B	.	.	-0.214648	0.03016	0.459	0.58679292666945504	0.06048	0.01260	0.04422	N	AEFBI	0.029677	0.02845	N	-1.11917760657677	0.06302	0.2897489	-1.20590993068046	0.05814	0.2781021	1.35723934429664E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.0	1.04	0.19220	-1.303000	0.02852	.	.	-2.761000	0.00195	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7071:0.0:0.2929	5.238	0.14774	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	6198.98	353	chr1	152218574	.	C	T	6198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.80;DP=4527;ExcessHet=0.0000;FS=0.521;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.78;MQRankSum=-1.073e+00;QD=13.48;ReadPosRankSum=0.273;SOR=0.614	GT:AD:DP:GQ:PL	0/1:235,225:460:99:6213,0,5769	20	0	1	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	10818.93	25	chr1	152910506	.	C	CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG,G,*	10818.93	.	AC=18,2,2;AF=0.474,0.053,0.053;AN=38;BaseQRankSum=-2.960e-01;DP=998;ExcessHet=1.5433;FS=1.193;InbreedingCoeff=-0.0466;MLEAC=19,2,2;MLEAF=0.500,0.053,0.053;MQ=55.69;MQRankSum=0.00;QD=23.78;ReadPosRankSum=-1.521e+00;SOR=0.793	GT:AD:DP:GQ:PL	0/1:11,12,0,0:23:99:443,0,430,480,466,946,480,466,946,946	3	4	8	2
chr1	153636608	153636608	C	T	exonic	CHTOP	.	nonsynonymous SNV	CHTOP:NM_001206612:exon2:c.C20T:p.P7L	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.305	B	0.037	B	0.000	N	1.000	D	0.895	L	.	.	-0.967	T	0.085	T	0.467	3.683	18.72	5.18	2.705	2.999	16.231	0.080	0.0028173353341	7.7e-05	.	0.0001	0	0.0002	0	0	6.003e-05	0	0.0007	0.0001294	20	154602	rs140840793	5.885e-05	5.883e-05	4.766e-05	7.016e-05	0.0006	4.878e-05	4.498e-05	0.0005	0.0004	2.988e-05	6.709e-05	0	0	0	0	2.879e-05	0	0.0006	5.92e-05	5.912e-05	6.426e-05	5.389e-05	0.0002	3.08e-05	2.212e-05	5.843e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.009	0.57480	D	0.028	0.55759	D	0.305	0.32678	B	0.037	0.23121	B	0.000022	0.55875	N	0.159954	0.99996	0.52935	D	1.59	0.40313	L	.	.	.	-5.06	0.82764	D	0.422	0.52651	-0.9673	0.37754	T	0.085	0.33157	T	9	0.093322575	0.16505	T	0.002817	0.05898	T	0.080	0.23350	.	.	0.110392049598	0.10638	0.3041471773249011	0.30327	1.36013355591	0.84315	0.859780192375	0.91079	D	0.22007	0.58325	T	-0.216912	0.18416	T	-0.185193	0.56040	T	0.238198280334473	0.22336	T	0.914708	0.70803	D	0.31096748	0.53870	0.23284861	0.48457	0.31096748	0.53870	0.23284861	0.48456	-8.498	0.64416	D	.	.	0.445	0.75975	A	.;.;.;.	.;.;.;.	4.633415	0.73696	26.0	0.99778643426002323	0.86606	0.98120	0.79768	D	AEFDBI	0.606990	0.59713	D	0.0704591550401486	0.45087	2.771315	0.236871013931276	0.51906	3.369208	0.99999999979048	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.18	5.18	0.71140	5.438000	0.66300	7.714000	0.66958	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.231	0.82167	246	0.90367	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	945.98	36	chr1	153636608	.	C	T	945.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=865;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-3.700e-02;SOR=0.798	GT:AD:DP:GQ:PL	0/1:44,38:82:99:960,0,1030	20	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.992	D	0.986	D	0.000	D	0.999	D	1.31	L	.	.	-0.865	T	0.172	T	0.819	4.131	21.3	2.28	0.340	1.167	8.751	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2593.87	40	chr1	153760378	.	C	G	2593.87	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.650e+00;DP=2714;ExcessHet=17.4423;FS=282.183;InbreedingCoeff=-0.5203;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.949;SOR=11.919	GT:AD:DP:GQ:PL	0/1:99,38:147:99:135,0,1635	6	0	15	0
chr1	153962344	153962344	C	T	exonic	SLC39A1	.	nonsynonymous SNV	SLC39A1:NM_001271957:exon3:c.G194A:p.R65H	.	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.011	B	0.009	B	0.001	D	1.000	D	0	N	0.84	T	-1.037	T	0.025	T	0.17	1.492	10.94	5.11	2.657	3.014	9.448	0.074	0.00651087128044	0.0005	0.00179712	0.0014	9.628e-05	0.0008	0	0	0.0011	0.0022	0.0055	0.0002135	33	154602	rs61755890	0.0008	0.0008	0.0007	0.0010	0.0048	0.0008	0.0008	0.0044	0.0042	2.988e-05	0.0011	0.0003	0	0	0.0047	0.0006	0.0011	0.0048	0.0005	0.0005	0.0005	0.0005	0.0046	0.0004	0.0004	0.0031	0.0026	0.0002	0	0.0009	0	0	0	0	0.0005	0.0009	0.0046	0.536	0.12714	T	0.62	0.07444	T	0.011	0.15914	B	0.009	0.14300	B	0.000854	0.41440	D	0.158200	0.991537	0.81001	D	-0.1	0.04694	N	0.84	0.47477	T	0.72	0.18877	N	0.178	0.19325	-1.0369	0.18264	T	0.025	0.10821	T	10	0.0067915022	0.00154	T	0.006511	0.17157	T	0.074	0.21613	.	.	0.514587094315	0.51101	0.4731409055275913	0.47233	0.416568246145	0.42296	0.483664810658	0.36562	T	0.091499	0.38807	T	-0.530503	0.00381	T	-0.534129	0.18876	T	0.0242987597593612	0.01183	T	0.822818	0.48291	T	0.053951774	0.10284	0.05203965	0.08497	0.053951774	0.10283	0.05203965	0.08496	-1.634	0.02062	T	.	.	0.119	0.32541	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.523362	0.49401	22.8	0.89128373460542931	0.18535	0.84588	0.43671	D	AEFDBHCI	0.337770	0.43546	N	-0.357055904812922	0.27013	1.47882	-0.135417948751163	0.33975	1.949171	0.999999999999676	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	5.11	5.11	0.69188	1.645000	0.36855	7.677000	0.65097	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.167000	0.20881	0.0:0.9065:0.0:0.0935	9.448	0.37873	72	0.96948	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	767.98	37	chr1	153962344	.	C	T	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.970e-01;DP=762;ExcessHet=0.0000;FS=1.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.186;SOR=0.465	GT:AD:DP:GQ:PL	0/1:30,33:63:99:782,0,718	20	0	1	0
chr1	154558454	154558454	C	T	exonic	UBE2Q1	.	nonsynonymous SNV	UBE2Q1:NM_017582:exon1:c.G100A:p.G34S,	.	.	407	1101	10	4	0	18	0.00810811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.007	B	0.01	B	.	.	0.924	N	0	N	.	.	-1.046	T	0.025	T	0.278	2.094	12.96	3.73	2.108	2.326	7.349	0.080	0.162113210841	.	.	0.0070	0	0	0	.	0.0005	0.0093	0.0097	0.0004981	77	154602	rs752073705	0.0007	0.0007	0.0006	0.0009	0.0084	0.0007	0.0007	0.0079	0.0076	3.774e-05	0.0061	4.362e-05	0	0	0.0023	0.0002	0.0006	0.0084	0.0006	0.0006	0.0005	0.0007	0.0067	0.0005	0.0005	0.0049	0.0043	2.431e-05	0	0.0020	0	0.0004	0	0	0.0004	0.0005	0.0067	0.0	0.91255	D	0.384	0.15794	T	0.007	0.14184	B	0.01	0.14941	B	.	.	.	.	0.923799	0.27230	N	-0.69	0.01958	N	.	.	.	0.04	0.06488	N	0.218	0.24385	-1.0457	0.15621	T	0.025	0.10598	T	8	0.0056792498	0.00126	T	0.162113	0.84176	D	0.080	0.23350	0.146	0.04941	0.0934897674506	0.08844	0.13979664258323896	0.13902	1.12703149	0.78481	0.879400014877	0.93880	D	0.015225	0.12811	T	-0.0897012	0.38126	T	-0.366626	0.37283	T	0.203579745484611	0.20612	T	0.557944	0.19432	T	0.14923325	0.34032	0.3586009	0.61333	0.14923325	0.34032	0.3586009	0.61333	-5.614	0.42920	T	.	.	0.115	0.22861	B	.	.	2.987731	0.39878	21.1	0.96739508627073323	0.30917	0.60852	0.31314	D	AEFDBHCI	0.254781	0.37403	N	-0.321724371383359	0.28325	1.561347	-0.144085508470134	0.33636	1.926188	0.999999998682502	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.581474	0.35302	0	.	.	3.73	3.73	0.41982	0.653000	0.24588	3.200000	0.36746	0.288000	0.18739	0.828000	0.30104	1.000000	0.68203	0.975000	0.56047	0.0:0.8793:0.0:0.1207	7.349	0.25856	459	0.78817	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	101.4	12	chr1	154558454	.	C	T	101.4	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.980e-01;DP=212;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0473;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=1.59;SOR=0.368	GT:AD:DP:GQ:PL	0/1:4,5:9:99:115,0,104	20	0	1	0
chr1	154869726	154869726	-	GCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGC:p.Q80_P81insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/6:0,15,0,0,3,0,32:50:99:2176,1266,1256,2222,1331,2287,2222,1331,2287,2287,1710,1198,1776,1776,1709,2222,1331,2287,2287,1776,2287,960,0,963,963,444,963,1038	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746397332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/6:0,15,0,0,3,0,32:50:99:2176,1266,1256,2222,1331,2287,2222,1331,2287,2287,1710,1198,1776,1776,1709,2222,1331,2287,2287,1776,2287,960,0,963,963,444,963,1038	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/6:0,15,0,0,3,0,32:50:99:2176,1266,1256,2222,1331,2287,2222,1331,2287,2287,1710,1198,1776,1776,1709,2222,1331,2287,2287,1776,2287,960,0,963,963,444,963,1038	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGC:p.Q80_P81insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/6:0,15,0,0,3,0,32:50:99:2176,1266,1256,2222,1331,2287,2222,1331,2287,2287,1710,1198,1776,1776,1709,2222,1331,2287,2287,1776,2287,960,0,963,963,444,963,1038	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/6:0,15,0,0,3,0,32:50:99:2176,1266,1256,2222,1331,2287,2222,1331,2287,2287,1710,1198,1776,1776,1709,2222,1331,2287,2287,1776,2287,960,0,963,963,444,963,1038	0	1	0	0
chr1	156011822	156011822	G	C	exonic	SSR2	.	nonsynonymous SNV	SSR2:NM_003145:exon5:c.C429G:p.F143L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.984	D	0.87	P	0.000	D	1.000	D	2.555	M	.	.	-0.257	T	0.378	T	0.881	2.778	15.25	5.55	2.894	4.402	17.055	0.184	0.18042830021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.568e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.91255	D	0.031	0.55341	D	0.984	0.60733	D	0.87	0.61806	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	.	.	.	-5.39	0.85994	D	0.84	0.83576	-0.2573	0.76161	T	0.378	0.73580	T	9	0.9662193	0.96110	D	0.180428	0.85489	D	0.551	0.81427	0.936	0.99075	0.416446257289	0.41261	0.8283436009707257	0.82792	1.40670516952	0.85333	0.792496502399	0.80822	T	0.534141	0.83931	D	0.416006	0.90809	D	0.359788	0.90695	D	0.99421751499176	0.85377	D	0.939106	0.80601	D	0.76359487	0.81666	0.72925085	0.84003	0.76359487	0.81667	0.72925085	0.84004	-10.5	0.76847	D	.	.	1.000	0.99795	P	.;.;.	.;.;.	5.067605	0.84496	28.3	0.91990689601245867	0.21324	0.98329	0.81685	D	AEFGBI	0.901337	0.84791	D	0.542252554756067	0.69612	5.381701	0.583687799372267	0.73772	6.02523	0.999999999487927	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	4.832000	0.62449	6.328000	0.55455	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.055	0.86406	196	0.92420	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3929	2240.58	53	chr1	156011822	.	G	A,C	2240.58	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=-2.019e+00;DP=1509;ExcessHet=7.7275;FS=191.539;InbreedingCoeff=-0.5270;MLEAC=13,1;MLEAF=0.464,0.036;MQ=60.00;MQRankSum=0.00;QD=2.34;ReadPosRankSum=0.481;SOR=10.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,28,0:94:99:0|1:156011822_G_A:267,0,1424,454,1500,1954:156011822	3	0	10	7
chr1	156369356	156369356	A	G	exonic	RHBG	.	nonsynonymous SNV	RHBG:NM_020407:exon1:c.A107G:p.Y36C,	.	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	3.425	M	1.81	T	0.063	D	0.427	T	0.93	4.437	23.6	5.28	2.214	3.480	14.188	0.610	0.0754018637921	0.0013	.	0.0010	0.0002	0.0012	0	0	0.0012	0	0.0018	0.0008861	137	154602	rs202003473	0.0008	0.0008	0.0008	0.0008	0.0021	0.0008	0.0008	0.0012	0.0010	8.961e-05	0.0009	0	2.519e-05	5.618e-05	0.0021	0.0009	0.0009	0.0013	0.0006	0.0006	0.0006	0.0005	0.0011	0.0005	0.0004	0.0009	0.0008	7.235e-05	0	0.0005	0.0003	0	0	0	0.0011	0.0005	0.0004	0.021	0.49117	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.25	0.59449	T	-4.43	0.77554	D	0.95	0.95841	0.063	0.83480	D	0.427	0.77035	T	9	0.67678535	0.71039	D	0.075402	0.72279	D	0.610	0.84719	.	.	0.846942012926	0.84547	0.8622034349201431	0.86184	.	.	0.636983275414	0.58136	T	.	.	.	0.0210791	0.54526	T	0.222124	0.84282	D	0.148079216371863	0.16950	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567	0.67488	P	.	.	5.185610	0.86954	29.1	0.99820087775251254	0.90326	0.95275	0.64091	D	AEFDBHCIJ	0.841791	0.75895	D	0.775014478052731	0.84522	8.311002	0.689807313213981	0.81603	7.565845	0.999999999999913	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	5.28	5.28	0.74118	3.615000	0.53908	8.730000	0.78182	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	14.188	0.65154	684	0.59539	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2548.98	38	chr1	156369356	.	A	G	2548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=899;ExcessHet=0.0000;FS=2.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.64;ReadPosRankSum=1.11;SOR=0.695	GT:AD:DP:GQ:PL	0/1:64,99:163:99:2563,0,1415	20	0	1	0
chr1	156843134	156843134	C	T	exonic	INSRR	.	nonsynonymous SNV	INSRR:NM_014215:exon17:c.G2996A:p.R999Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.526	N	0.949	N	.	.	-1.65	D	-0.889	T	0.177	T	0.067	2.021	12.71	-4.16	-0.655	-0.082	9.562	0.178	0.0134949471979	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1188702401	1.437e-05	1.436e-05	1.089e-05	1.788e-05	2.987e-05	9.23e-06	7.84e-06	9.31e-06	7.61e-06	2.987e-05	2.236e-05	0	0	0	0	1.529e-05	0	2.319e-05	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.137	0.25979	T	0.147	0.32783	T	0.0	0.02946	B	0.001	0.04355	B	0.525898	0.11690	N	0.703332	0.949222	0.37643	D	1.505	0.38159	L	-1.65	0.82625	D	-0.85	0.23156	N	0.157	0.16308	-0.8894	0.48986	T	0.177	0.52162	T	9	0.07466516	0.11441	T	0.013495	0.32933	T	0.178	0.44724	0.342	0.33464	0.578844998551	0.57554	0.23112019405701092	0.23027	0.0515081126592	0.05672	0.271671295166	0.06360	T	0.356411	0.72327	T	-0.250923	0.13984	T	-0.515344	0.20768	T	0.072318431070173	0.08973	T	0.637136	0.25071	T	0.07755253	0.17610	0.107351385	0.25841	0.07755253	0.17610	0.107351385	0.25841	-4.044	0.24460	T	.	.	0.061	0.01109	B	.	.	1.112969	0.14983	11.49	0.9463534435787988	0.25227	0.02714	0.07370	N	AEFGBI	0.077869	0.15698	N	-1.14674851994006	0.05833	0.2669695	-1.17378929585341	0.06350	0.3054157	0.282415803894183	0.19001	0.59774	0.34471	0	0.59043	0.45803	0	0.563428	0.18855	0	0.63947	0.58350	0	.	.	4.92	-4.16	0.03606	-0.038000	0.12096	-1.072000	0.06417	-0.982000	0.01892	0.000000	0.06391	0.000000	0.08366	0.985000	0.61073	0.1163:0.1425:0.0:0.7412	9.562	0.38543	693	0.58582	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1600.98	35	chr1	156843134	.	C	T	1600.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.581e+00;DP=842;ExcessHet=0.0000;FS=0.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=1.08;SOR=0.575	GT:AD:DP:GQ:PL	0/1:45,67:112:99:1615,0,1063	20	0	1	0
chr1	160681129	160681129	C	0	exonic	CD48	.	.	.	.	.	433	1028	11	0	50	61	0.00532172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1504.46	50	chr1	160681129	.	C	A,*	1504.46	.	AC=2,2;AF=0.048,0.048;AN=42;BaseQRankSum=2.28;DP=967;ExcessHet=0.6776;FS=7.137;InbreedingCoeff=-0.1053;MLEAC=2,2;MLEAF=0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=7.45;ReadPosRankSum=-7.970e-01;SOR=1.227	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:29,0,20:49:99:0|1:160681123_A_G:506,593,1451,0,858,798:160681123	17	0	2	0
chr1	161362413	161362413	A	T	exonic	SDHC	.	nonsynonymous SNV	SDHC:NM_001035513:exon4:c.A331T:p.M111L	Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 3, Autosomal dominant	.	0	1477	45	0	0	45	0.015005	.	.	181603	Malignant_tumor_of_breast|not_specified|not_provided|Gastrointestinal_stromal_tumor|Paragangliomas_3|Ovarian_cancer|Hereditary_pheochromocytoma-paraganglioma|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373,Orphanet:29072|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.0	B	0.734	N	.	.	.	.	-3.43	D	-0.432	T	0.619	D	0.113	-0.590	1.356	-4.71	-0.842	-0.304	9.476	0.250	0.0570150424314	.	0.000599042	0.0006	0	0.0003	0	0	0.0002	0.0012	0.0032	2.59e-05	4	154602	rs200375156	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	2.988e-05	0.0002	0	0	0	0.0035	7.556e-05	0.0006	0.0040	0.0002	0.0002	7.774e-05	0.0003	0.0044	0.0001	0.0001	0.0029	0.0025	0	0	0.0001	0	0	0	0	7.371e-05	0	0.0044	0.163	0.23450	T	0.513	0.10714	T	0.0	0.02946	B	0.0	0.01387	B	0.733946	0.09831	N	0.880348	1	0.08975	N	.	.	.	-3.43	0.94388	D	0.25	0.04456	N	0.07	0.25006	-0.4316	0.71014	T	0.619	0.86580	D	8	0.013089299	0.00279	T	0.057015	0.66813	D	0.250	0.55888	0.476	0.55342	0.583677480531	0.58040	0.3585962639238585	0.35773	1.79880672876	0.91610	0.245953053236	0.03353	T	0.091916	0.38896	T	-0.362043	0.04016	T	-0.295247	0.45225	T	0.0138114803380374	0.00261	T	0.039596	0.00274	T	0.05469047	0.10526	0.07093414	0.15130	0.041325785	0.06066	0.04859368	0.07250	1.203	0.00232	T	0.03272251798696227	0.00128	0.081	0.10256	B	.;.;.	.;.;.	-0.585972	0.01610	0.110	0.57946038623444585	0.05882	0.04530	0.10162	N	AEFGBI	0.252733	0.37236	N	-1.45194162059434	0.02201	0.09694486	-1.51548168205956	0.02225	0.1019991	0.110365338529712	0.16631	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.27	-4.71	0.03042	-0.094000	0.11060	-0.665000	0.07962	-1.618000	0.00872	0.001000	0.13787	0.000000	0.08366	0.278000	0.23967	0.1931:0.3704:0.4365:0.0	9.476	0.38037	746	0.52331	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.04762	2001.11	43	chr1	161362413	.	A	T	2001.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.20;DP=966;ExcessHet=0.1072;FS=1.716;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=48.48;MQRankSum=1.35;QD=9.01;ReadPosRankSum=0.598;SOR=0.824	GT:AD:DP:GQ:PL	0/1:71,38:109:99:865,0,1909	19	0	2	0
chr1	165743215	165743215	G	C	exonic	TMCO1	.	nonsynonymous SNV	TMCO1:NM_001256164:exon6:c.C471G:p.D157E	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.36	B	0.433	B	0.000	D	1.000	D	1.135	L	.	.	-0.981	T	0.105	T	0.858	4.070	20.9	4.33	0.955	5.327	11.107	0.283	0.00561825470216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.32355	T	0.36	0.33860	B	0.366	0.43381	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	.	.	.	0.873	0.94550	-0.9809	0.34794	T	0.105	0.38513	T	8	0.7058418	0.72732	D	0.005618	0.14530	T	0.283	0.60100	0.787	0.90993	0.162503812791	0.15892	0.8982099665768731	0.89791	0.898319418033	0.70545	0.813728034496	0.84064	D	0.273669	0.64613	T	0.317	0.84250	D	0.217429	0.84044	D	0.938554227352142	0.60927	D	0.90061	0.74830	D	0.30915323	0.53713	0.28407496	0.54403	0.30915323	0.53713	0.28407496	0.54403	.	.	.	.	.	0.877	0.81325	P	.;.;.;.;.;.	.;.;.;.;.;.	3.073706	0.41320	21.3	0.99659428855862664	0.77820	0.98300	0.81404	D	AEFGBI	0.671349	0.63812	D	-0.0328772314455231	0.40371	2.396296	0.0994292813719545	0.44519	2.732209	0.972625305894158	0.29387	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.17	4.33	0.51083	5.433000	0.66269	5.507000	0.48788	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1486:0.0:0.8514:0.0	11.107	0.47427	893	0.26510	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	218.51	112	chr1	165743215	.	G	C	218.51	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-3.149e+00;DP=1772;ExcessHet=1.7912;FS=225.654;InbreedingCoeff=-0.2159;MLEAC=6;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=0.715;SOR=11.634	GT:AD:DP:GQ:PL	0/1:63,19:87:18:18,0,1117	12	0	6	3
chr1	173941317	173941317	G	C	exonic	RC3H1	.	nonsynonymous SNV	RC3H1:NM_001300850:exon18:c.C3199G:p.Q1067E	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.241	B	0.204	B	0.000	D	1.000	D	0.695	N	0.82	T	-1.011	T	0.079	T	0.397	3.619	18.42	5.8	2.750	7.907	20.061	0.128	0.0235338632217	.	0.00159744	0.0011	0	0	0	0	0	0	0.0084	0.0009702	150	154602	rs376399576	0.0005	0.0005	0.0003	0.0007	0.0078	0.0005	0.0004	0.0073	0.0071	2.987e-05	0	0	0	0	0.0003	8.994e-07	0.0005	0.0078	0.0003	0.0003	0.0002	0.0004	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	0	0	0.0091	0.016	0.51853	D	0.69	0.32891	T	0.155	0.30888	B	0.101	0.37039	B	0.000008	0.62929	D	0.149323	0.999991	0.58761	D	0.975	0.24501	L	0.82	0.48460	T	-1.01	0.26639	N	0.515	0.57092	-1.0112	0.26541	T	0.079	0.31375	T	10	0.0073369443	0.00167	T	0.023534	0.46505	T	0.128	0.35103	0.151	0.05441	0.410638578336	0.40681	0.1702399104243784	0.16943	0.335977173325	0.35601	0.463615983725	0.33806	T	0.11535	0.43387	T	-0.392403	0.02595	T	-0.330887	0.41371	T	0.119133828609186	0.14345	T	0.938506	0.77019	D	0.19668484	0.41505	0.33068386	0.58935	0.19668484	0.41505	0.33068386	0.58934	-3.186	0.12310	T	.	.	0.106	0.24157	B	.;.;.	.;.;.	3.840784	0.55578	23.6	0.98932630349299311	0.48769	0.99260	0.93590	D	AEFGBI	0.828811	0.74784	D	0.198572480641229	0.51131	3.296785	0.39409952458946	0.61201	4.316877	0.999999999852983	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	8.025000	0.89148	11.854000	0.98159	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.061	0.97676	165	0.93588	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	705.98	33	chr1	173941317	.	G	C	705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.987;DP=773;ExcessHet=0.0000;FS=1.865;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.72;ReadPosRankSum=-8.750e-01;SOR=0.947	GT:AD:DP:GQ:PL	0/1:50,31:81:99:720,0,1223	20	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	21772.6	79	chr1	175160810	.	C	T,*	21772.6	.	AC=20,9;AF=0.476,0.214;AN=42;BaseQRankSum=0.238;DP=1529;ExcessHet=1.3217;FS=0.603;InbreedingCoeff=-0.0027;MLEAC=20,9;MLEAF=0.476,0.214;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=1.92;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,64:64:99:1|1:175160809_TC_T:2735,2735,2735,193,193,0:175160809	2	5	6	0
chr1	179302685	179302685	A	G	exonic	SOAT1	.	startloss	SOAT1:NM_003101:exon2:c.A1G:p.M1?,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.001	B	0.553	N	0.757	N	.	.	1.54	T	-1.044	T	0.051	T	0.564	0.350	5.898	3.02	0.929	0.784	6.413	0.202	0.00683679820324	7.7e-05	.	1.719e-05	0	0	0	0	3.055e-05	0	0	1.29e-05	2	154602	rs145608664	6.24e-06	6.157e-06	6.901e-06	5.573e-06	8.14e-06	2.94e-06	2.13e-06	3.83e-06	2.77e-06	0	0	0	0	0	0	8.14e-06	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.068	0.37536	T	0.189	0.34124	T	0.0	0.02946	B	0.001	0.04355	B	0.552674	0.11420	N	0.747577	0.756731	0.33991	D	.	.	.	1.54	0.30133	T	-1.07	0.27876	N	0.518	0.54845	-1.0443	0.16030	T	0.051	0.21883	T	9	0.16294926	0.30526	T	0.006837	0.18093	T	0.202	0.48754	.	.	0.241078983079	0.23725	0.2640250756215701	0.26315	.	.	.	.	.	0.399277	0.75716	T	-0.148669	0.28520	T	-0.431058	0.29815	T	0.031007869169116	0.02148	T	0.9	0.65058	D	0.112384036	0.26550	0.14208783	0.33814	0.112384036	0.26550	0.14208783	0.33813	-8.968	0.67491	D	.	.	.	.	.	.;.	.;.	1.861063	0.23640	16.10	0.88005720647172225	0.17645	0.18191	0.20157	N	AEFDBI	0.011843	0.00114	N	-0.559595335854848	0.20183	1.062155	-0.545879697982884	0.20915	1.129026	0.99809007408062	0.36419	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.14	3.02	0.33970	0.798000	0.26674	1.155000	0.24510	0.756000	0.94297	0.569000	0.27497	0.078000	0.22336	0.537000	0.29868	0.8904:0.0:0.1096:0.0	6.413	0.20907	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	683.98	34	chr1	179302685	.	A	G	683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-1.290e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:29,30:59:99:698,0,602	20	0	1	0
chr1	182952866	182952871	CCGCCG	-	exonic	SHCBP1L	.	nonframeshift deletion	SHCBP1L:NM_030933:exon1:c.263_268del:p.A88_A89del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0007	3.84e-05	1	26028	rs747708113	4.761e-05	4.994e-05	3.017e-05	6.527e-05	0.0007	3.827e-05	3.506e-05	0.0006	0.0005	3.037e-05	0	0	2.562e-05	0	0	3.613e-06	1.674e-05	0.0007	1.971e-05	1.969e-05	1.286e-05	2.687e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1581.94	33	chr1	182952865	.	TCCGCCG	T	1581.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.320e-01;DP=880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.97;ReadPosRankSum=0.937;SOR=0.693	GT:AD:DP:GQ:PL	0/1:26,40:66:99:1596,0,920	20	0	1	0
chr1	182952868	182952868	G	0	exonic	SHCBP1L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1967.41	33	chr1	182952868	.	G	T,*	1967.41	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=3.32;DP=1005;ExcessHet=0.1072;FS=1.032;InbreedingCoeff=-0.0633;MLEAC=1,1;MLEAF=0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=8.90;ReadPosRankSum=0.460;SOR=0.776	GT:AD:DP:GQ:PL	0/2:26,0,40:66:99:1596,1674,2716,0,1041,920	18	0	1	1
chr1	184795360	184795360	C	T	exonic	NIBAN1	.	nonsynonymous SNV	NIBAN1:NM_052966:exon14:c.G2404A:p.G802R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.944	P	0.733	P	0.026	N	1.000	N	0.695	N	2.27	T	-1.016	T	0.056	T	0.148	3.419	17.56	4.33	2.444	0.851	10.155	0.116	0.0132914161191	.	0.00159744	0.0008	0	0	0	0	1.546e-05	0.0011	0.0057	0.0006404	99	154602	rs563889793	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0046	0	0	0	0	0	0	3.605e-06	0.0003	0.0052	0.0001	0.0001	7.709e-05	0.0002	0.0039	8.658e-05	7.251e-05	0.0026	0.0021	0	0	0	0	0	0	0	1.47e-05	0	0.0039	0.013	0.53900	D	0.339	0.18071	T	0.944	0.53183	P	0.733	0.55393	P	0.026305	0.01646	N	2.481470	1	0.08975	N	1.795	0.47270	L	2.27	0.17431	T	-1.2	0.30555	N	0.112	0.09914	-1.0161	0.24980	T	0.056	0.23639	T	10	0.004752487	0.00100	T	0.013291	0.32578	T	0.116	0.32463	0.16	0.06396	0.348983352498	0.34513	0.0943833513922089	0.09370	0.101090671826	0.11430	0.296744167805	0.09918	T	0.031961	0.22276	T	-0.56609	0.00233	T	-0.584145	0.14177	T	0.100819790677895	0.12447	T	0.524848	0.17228	T	0.11384693	0.26882	0.097025625	0.23077	0.11384693	0.26881	0.097025625	0.23077	-5.044	0.37314	T	.	.	0.094	0.14523	B	.	.	1.874239	0.23810	16.16	0.99700562812674509	0.80591	0.09494	0.15237	N	AEFBI	0.108682	0.21612	N	-0.265678397326983	0.30483	1.700099	-0.364677307415998	0.26059	1.43696	0.86177867183532	0.25240	0.660377	0.49826	0	0.694456	0.67091	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.25	4.33	0.51083	1.019000	0.29616	1.576000	0.27446	0.599000	0.40250	0.001000	0.13787	0.002000	0.18203	0.014000	0.10232	0.0:0.9047:0.0:0.0953	10.155	0.41991	623	0.65786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2056.98	33	chr1	184795360	.	C	T	2056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.36;DP=880;ExcessHet=0.0000;FS=2.125;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=1.46;SOR=0.910	GT:AD:DP:GQ:PL	0/1:71,70:141:99:2071,0,1926	20	0	1	0
chr1	197356836	197356836	A	T	exonic	CRB1	.	nonsynonymous SNV	CRB1:NM_001193640:exon3:c.A658T:p.T220S	Leber congenital amaurosis 8;Pigmented paravenous chorioretinal atrophy, Autosomal dominant;Retinitis pigmentosa-12, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.626	P	0.314	B	.	.	1.000	D	1.94	M	-2.36	D	-0.103	T	0.645	D	0.247	1.547	11.13	2.79	0.347	2.065	5.375	0.328	0.174756425666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.24277	T	0.296	0.33000	T	0.416	0.35222	B	0.199	0.38015	B	.	.	.	.	0.959338	0.46032	D	0.81	0.20779	L	-3.01	0.92208	D	-1.61	0.38734	N	0.246	0.40264	-0.1026	0.80039	T	0.645	0.87614	D	9	0.29548082	0.47117	T	0.174756	0.85105	D	0.328	0.65026	0.534	0.64293	0.856021758553	0.85463	0.3310163935076403	0.33014	0.0524407087411	0.05777	0.395722597837	0.24473	T	0.392266	0.88903	T	0.00803412	0.52756	T	-0.226236	0.52134	T	0.226926073431969	0.21804	T	0.281772	0.33695	T	0.08560376	0.19863	0.1282542	0.30859	0.08560376	0.19862	0.1282542	0.30859	-4.082	0.29773	T	.	.	0.103	0.18705	B	.;.;.;.;.	.;.;.;.;.	1.988201	0.25258	16.70	0.95204046005411525	0.26403	0.79553	0.39443	D	AEFDGCI	0.296535	0.40635	N	-0.398520786288524	0.25521	1.386037	-0.373603993052003	0.25786	1.420257	0.211119225433095	0.18240	0.514905	0.20481	0	0.573078	0.20572	0	0.603688	0.36954	0	0.633917	0.49826	0	.	.	5.18	2.79	0.31792	1.796000	0.38428	1.368000	0.25934	-0.065000	0.16512	0.993000	0.37899	0.287000	0.24143	0.678000	0.33484	0.7605:0.0:0.085:0.1545	5.375	0.15464	397	0.82902	.;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	954.98	37	chr1	197356836	.	A	T	954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=763;ExcessHet=0.0000;FS=2.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=-2.100e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:31,34:65:99:969,0,843	20	0	1	0
chr1	197442279	197442279	G	A	exonic	CRB1	.	nonsynonymous SNV	CRB1:NM_001193640:exon9:c.G3656A:p.R1219H	Leber congenital amaurosis 8;Pigmented paravenous chorioretinal atrophy, Autosomal dominant;Retinitis pigmentosa-12, autosomal recessive, Autosomal recessive	YES	0	1490	32	0	0	32	0.0106242	.	.	105795	not_provided|Leber_congenital_amaurosis_8|Retinitis_pigmentosa_12|Leber_congenital_amaurosis|Pigmented_paravenous_retinochoroidal_atrophy|Retinitis_pigmentosa|CRB1-related_disorder|not_specified|Leber_congenital_amaurosis_1	MedGen:C3661900|MONDO:MONDO:0013453,MedGen:C3151202,OMIM:613835,Orphanet:65|MONDO:MONDO:0010818,MedGen:C1838647,OMIM:600105,Orphanet:791|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MONDO:MONDO:0008246,MedGen:C1868310,OMIM:172870,Orphanet:251295|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|.|MedGen:CN169374|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.83	T	0.194	B	0.061	B	.	.	1.000	D	0.4	N	-2.89	D	0.112	D	0.765	D	0.701	2.077	12.90	0.617	0.064	0.823	8.925	0.598	0.171466875088	0.0007	0.000998403	0.0015	0.0006	0.0006	0	0	0.0009	0.0033	0.0065	0.0013907	215	154602	rs62636285	0.0012	0.0012	0.0010	0.0015	0.0076	0.0012	0.0012	0.0071	0.0069	0.0003	0.0009	0.0009	0	0	0.0021	0.0009	0.0013	0.0076	0.0010	0.0010	0.0009	0.0012	0.0081	0.0009	0.0008	0.0061	0.0054	0.0005	0	0.0016	0.0006	0	0	0.0068	0.0010	0.0005	0.0081	0.957	0.22746	T	0.426	0.13872	T	0.016	0.29493	B	0.019	0.26820	B	.	.	.	.	0.998526	0.81001	D	0.53	0.13656	N	-2.89	0.98390	D	-1.45	0.49018	N	0.599	0.74826	0.112	0.84395	D	0.765	0.92009	D	9	0.009081215	0.00205	T	0.171467	0.84873	D	0.598	0.84074	.	.	0.855330142361	0.85393	0.7489288269697888	0.74838	0.0380857293076	0.04044	0.205337181687	0.00629	T	0.29748	0.76546	T	-0.0870302	0.38565	T	0.106076	0.77311	D	0.011563885380048	0.00175	T	0.70223	0.44094	T	0.073039584	0.16292	0.073683605	0.16037	0.07025654	0.15459	0.06356827	0.12612	-5.623	0.48053	T	0.17755216793042805	0.22712	0.102	0.26947	B	.;.;.;.;.;.	.;.;.;.;.;.	2.474297	0.31895	18.88	0.87126434447967349	0.17006	0.65335	0.32703	D	ALL	0.204523	0.33095	N	-0.850175086300533	0.12046	0.5848034	-0.710788130205812	0.16693	0.8842335	0.999999999999696	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.564101	0.26826	0	.	.	5.6	0.617	0.16794	1.156000	0.31323	1.545000	0.27254	-0.161000	0.11593	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.426:0.0:0.574:0.0	8.925	0.34794	355	0.85216	.;EGF-like domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1617.98	34	chr1	197442279	.	G	A	1617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=825;ExcessHet=0.0000;FS=0.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.063;SOR=0.807	GT:AD:DP:GQ:PL	0/1:76,67:143:99:1632,0,1856	20	0	1	0
chr1	200617637	200617637	C	T	exonic	KIF14	.	nonsynonymous SNV	KIF14:NM_014875:exon2:c.G1087A:p.V363I,	.	.	436	1083	3	0	0	3	0.00138313	.	.	427685	KIF14-related_disorder|not_specified|Lethal_fetal_cerebrorenogenitourinary_agenesis/hypoplasia_syndrome|Microcephaly_20,_primary,_autosomal_recessive|not_provided	.|MedGen:CN169374|MONDO:MONDO:0014552,MedGen:C4015701,OMIM:616258,Orphanet:439897|MONDO:MONDO:0054761,MedGen:C4693572,OMIM:617914|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.99	D	0.893	P	0.000	N	1.000	D	1.595	L	-1.05	T	-0.025	T	0.430	T	0.194	4.891	28.1	4.66	1.349	2.258	14.084	0.236	0.0187411224978	0.0023	0.00219649	0.0027	0.0011	0.0013	0	0.0048	0.0032	0.0022	0.0033	0.0026778	414	154602	rs77828651	0.0037	0.0037	0.0038	0.0037	0.0041	0.0037	0.0036	0.0040	0.0039	0.0008	0.0018	0.0005	5.045e-05	0.0059	0.0014	0.0041	0.0027	0.0038	0.0025	0.0025	0.0025	0.0026	0.0037	0.0023	0.0022	0.0032	0.0030	0.0007	0	0.0024	0.0003	0	0.0049	0	0.0036	0.0028	0.0037	0.189	0.21224	T	0.15	0.32461	T	0.99	0.63424	D	0.893	0.63340	P	0.000060	0.53742	N	0.126111	0.999996	0.58761	D	2.055	0.56616	M	-1.05	0.76690	T	-0.64	0.18670	N	0.344	0.39052	-0.0248	0.81740	T	0.430	0.77206	T	10	0.016474038	0.00347	T	0.018741	0.40901	T	0.236	0.53931	.	.	0.597841522426	0.59464	0.3006561236912112	0.29978	0.122897714924	0.13848	0.232697501779	0.02174	T	0.097368	0.40011	T	-0.411552	0.01941	T	-0.362024	0.37817	T	0.0271552378220335	0.01566	T	0.922708	0.71908	D	0.16597466	0.36904	0.111040846	0.26782	0.15159582	0.34454	0.11152245	0.26900	-5.863	0.45119	T	.	.	0.079	0.07460	B	.;.	.;.	2.370772	0.30420	18.43	0.99855732565579181	0.93458	0.95903	0.66652	D	AEFBI	0.194472	0.32155	N	0.303092593565786	0.56307	3.79524	0.229584213804401	0.51497	3.331627	0.999999999487606	0.74766	0.489673	0.17934	0	0.586065	0.33999	0	0.608884	0.39905	0	0.662433	0.64102	0	.	.	5.57	4.66	0.57857	2.312000	0.43386	1.770000	0.28626	0.530000	0.24713	0.884000	0.31069	0.929000	0.28499	0.916000	0.45140	0.0:0.928:0.0:0.072	14.084	0.64472	607	0.67291	Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1587.98	37	chr1	200617637	.	C	T	1587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.091e+00;DP=836;ExcessHet=0.0000;FS=0.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-1.585e+00;SOR=0.598	GT:AD:DP:GQ:PL	0/1:69,65:134:99:1602,0,1785	20	0	1	0
chr1	200992290	200992290	G	A	exonic	KIF21B	.	stopgain	KIF21B:NM_001252100:exon16:c.C2377T:p.R793X	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	10.174	43	4.27	1.123	1.563	12.477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.736e-06	4.092e-06	0	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.502	0.53445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	8.956300	0.98259	39	0.99837803481308307	0.91886	0.89712	0.50354	D	AEFDBI	0.497216	0.53183	N	0.651875628263769	0.76489	6.496182	0.496412470305392	0.67750	5.126245	0.0340284642817594	0.14134	0.706548	0.73137	0	0.724815	0.89359	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.21	4.27	0.50009	1.631000	0.36704	4.735000	0.44575	0.618000	0.50648	0.985000	0.35982	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.5535:0.4465	12.477	0.55158	769	0.49307	.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	677.98	44	chr1	200992290	.	G	A	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-2.900e-01;SOR=0.583	GT:AD:DP:GQ:PL	0/1:35,30:65:99:692,0,770	20	0	1	0
chr1	201809242	201809242	C	T	exonic	NAV1	.	nonsynonymous SNV	NAV1:NM_001167738:exon18:c.C3104T:p.P1035L	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.786	P	0.002	N	1.000	D	0.895	L	3.33	T	-1.128	T	0.028	T	0.57	3.890	19.77	4.63	2.610	2.918	14.497	0.135	0.0119378636807	0.0006	0.000998403	0.0008	0.0002	0.0005	0.0060	0	0.0003	0	0.0005	0.0006921	107	154602	rs147713533	0.0005	0.0005	0.0005	0.0005	0.0053	0.0005	0.0005	0.0047	0.0045	0.0001	0.0004	0	0.0053	0	0.0002	0.0004	0.0006	0.0006	0.0005	0.0005	0.0004	0.0005	0.0066	0.0004	0.0004	0.0048	0.0042	0.0002	0	0.0005	0	0.0066	0	0	0.0003	0	0	0.077	0.34095	T	0.166	0.33109	T	0.997	0.70673	D	0.786	0.57542	P	0.002484	0.36462	N	0.278041	0.999997	0.58761	D	0.895	0.22405	L	3.33	0.06214	T	-2.63	0.58085	D	0.564	0.70088	-1.1282	0.01870	T	0.028	0.12103	T	10	0.009759963	0.00219	T	0.011938	0.30057	T	0.135	0.36572	.	.	0.0675242888579	0.06100	0.35368504481907104	0.35282	0.943198426056	0.72291	0.648363411427	0.59754	T	0.233593	0.60043	T	-0.449678	0.01134	T	-0.41358	0.31813	T	0.0561941900119145	0.06555	T	0.943706	0.78720	D	0.06615743	0.14208	0.08250424	0.18834	0.06615743	0.14207	0.08250424	0.18834	-10.172	0.75289	D	.	.	0.334	0.55473	B	.;.;.	.;.;.	4.237740	0.64219	24.7	0.99699284209507522	0.80522	0.95975	0.66970	D	AEFDBI	0.289078	0.40082	N	0.391095728503833	0.60940	4.288605	0.423087776549402	0.63008	4.526142	0.96295527945451	0.28658	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.56	4.63	0.57175	2.961000	0.48861	7.496000	0.59428	0.589000	0.31548	0.772000	0.29380	1.000000	0.68203	0.662000	0.33024	0.0:0.9272:0.0:0.0728	14.497	0.67276	294	0.88270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2000.98	38	chr1	201809242	.	C	T	2000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.820;DP=837;ExcessHet=0.0000;FS=1.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.71;ReadPosRankSum=0.975;SOR=0.487	GT:AD:DP:GQ:PL	0/1:35,78:113:99:2015,0,650	20	0	1	0
chr1	201900256	201900256	C	T	exonic	LMOD1	.	nonsynonymous SNV	LMOD1:NM_012134:exon2:c.G757A:p.E253K,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.007	B	0.004	B	0.674	N	1.000	N	0.46	N	-3.44	D	-0.440	T	0.597	D	0.263	1.272	10.15	1.81	0.172	-0.057	7.219	0.162	0.0319286309268	.	.	0.0001	0	0	0	0	0	0	0.0009	9.06e-05	14	154602	rs776995438	6.911e-05	6.909e-05	2.995e-05	0.0001	0.0011	5.781e-05	5.393e-05	0.0009	0.0008	0	0	0	0	0	0.0003	3.598e-06	1.657e-05	0.0011	6.576e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.157	0.23997	T	0.237	0.24621	T	0.007	0.14184	B	0.004	0.10090	B	0.674306	0.10314	N	0.784649	0.999998	0.08975	N	1.265	0.31966	L	-3.44	0.94428	D	-0.49	0.15578	N	0.128	0.12198	-0.4397	0.70740	T	0.597	0.85631	D	10	0.022045463	0.00541	T	0.031929	0.53888	D	0.162	0.41843	0.364	0.37036	0.275349458131	0.27150	0.08557385539361706	0.08491	0.301679839103	0.32499	0.24973320961	0.03739	T	0.130665	0.45970	T	-0.263066	0.12543	T	-0.209844	0.53710	T	0.013482335023582	0.00246	T	0.610139	0.23115	T	0.08654237	0.20120	0.059432644	0.11153	0.10633108	0.25143	0.07309702	0.15845	-7.424	0.57073	T	.	.	0.079	0.07083	B	.	.	0.934296	0.13095	9.599	0.92570493228124262	0.22025	0.41503	0.26671	N	AEFBHCI	.	.	.	-1.064900607897	0.07298	0.3386133	-1.0819207976083	0.08057	0.3944804	0.999930621799878	0.46732	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.85	1.81	0.24139	0.154000	0.16160	0.255000	0.16475	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7242:0.1716:0.1042	7.219	0.25153	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3523.98	187	chr1	201900256	.	C	T	3523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.805e+00;DP=1814;ExcessHet=0.0000;FS=0.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=2.24;SOR=0.765	GT:AD:DP:GQ:PL	0/1:144,143:287:99:3538,0,3786	20	0	1	0
chr1	201900333	201900333	C	T	exonic	LMOD1	.	nonsynonymous SNV	LMOD1:NM_012134:exon2:c.G680A:p.R227H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.909	P	0.153	B	0.440	N	1.000	N	0.345	N	1.94	T	-1.073	T	0.027	T	0.106	1.910	12.34	4.32	1.312	-1.238	12.320	0.084	0.0117420360377	0.0002	0.000998403	0.0009	0.0004	0.0009	0.0094	0	0.0003	0	0.0005	0.0004463	69	154602	rs199655500	0.0004	0.0004	0.0004	0.0004	0.0044	0.0003	0.0003	0.0039	0.0037	0.0002	0.0004	0	0.0044	0	0	0.0002	0.0002	0.0006	0.0004	0.0004	0.0003	0.0004	0.0056	0.0003	0.0003	0.0040	0.0035	0.0001	0	0.0007	0	0.0056	0	0	0.0001	0	0.0002	0.127	0.27080	T	0.087	0.40747	T	0.909	0.50183	P	0.099	0.30579	B	0.439816	0.12641	N	0.643235	1	0.08975	N	0.695	0.17993	N	1.94	0.22678	T	-0.75	0.21003	N	0.102	0.08506	-1.0735	0.08660	T	0.027	0.11441	T	10	0.003744036	0.00070	T	0.011742	0.29664	T	0.084	0.24469	.	.	0.117191471859	0.11215	0.05417184813314211	0.05359	0.402808575065	0.41226	0.187256500125	0.00180	T	0.116509	0.43590	T	-0.642318	0.00081	T	-0.69281	0.06227	T	0.0140854081564883	0.00274	T	0.422958	0.11265	T	0.03047055	0.02717	0.03037121	0.01484	0.03047055	0.02717	0.03037121	0.01483	-5.456	0.41455	T	.	.	0.080	0.07554	B	.	.	1.049311	0.14305	10.88	0.91344356026161777	0.20607	0.39358	0.26195	N	AEFBHCI	.	.	.	-0.549793953214951	0.20489	1.080532	-0.603283825565957	0.19408	1.041159	0.999998240174203	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.25	4.32	0.50899	-0.229000	0.09106	-2.423000	0.03773	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9156:0.0:0.0844	12.320	0.54300	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3375.98	187	chr1	201900333	.	C	T	3375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.350e-01;DP=1801;ExcessHet=0.0000;FS=2.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=0.815;SOR=0.572	GT:AD:DP:GQ:PL	0/1:129,141:270:99:3390,0,3038	20	0	1	0
chr1	204954925	204954925	C	G	exonic	NFASC	.	nonsynonymous SNV	NFASC:NM_001160331:exon4:c.C491G:p.S164C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.939	D	0.002	N	0.999	D	1.24	L	2.65	T	-1.144	T	0.075	T	0.435	4.742	26.5	5.46	2.573	4.963	18.917	0.097	0.0141274231868	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs575521973	4.104e-06	4.104e-06	0	8.25e-06	6.956e-05	1.48e-06	9.7e-07	2.995e-05	2.038e-05	0	0	0	0	0	0	0	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.939	0.67449	D	0.001765	0.38052	N	0.119263	0.999266	0.46490	D	1.32	0.33002	L	2.65	0.12676	T	-2.35	0.52776	N	0.421	0.47208	-1.1441	0.01212	T	0.075	0.30272	T	10	0.3729083	0.53613	T	0.014127	0.34038	T	0.208	0.49714	0.459	0.52590	0.29893580763	0.29502	0.33099959284559505	0.33012	1.11478728915	0.78149	0.641133189201	0.58725	T	0.247702	0.61738	T	-0.182673	0.23339	T	-0.40332	0.32998	T	0.904917597770691	0.55851	D	0.957704	0.84427	D	.	.	.	.	.	.	.	.	-12.75	0.88307	D	.	.	0.642	0.73132	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.695867	0.75298	26.3	0.99300923861623502	0.58613	0.97047	0.72382	D	AEFDBI	0.823200	0.74336	D	0.593527205677628	0.72769	5.858247	0.62770366715782	0.76960	6.58822	0.999964201824497	0.48965	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.46	5.46	0.80021	5.037000	0.63964	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:1.0:0.0:0.0	18.917	0.92481	735	0.53711	.;.;.;.;.;.;.;.;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2089.98	34	chr1	204954925	.	C	G	2089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=847;ExcessHet=0.0000;FS=3.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=1.41;SOR=0.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,57:150:99:0|1:204954923_A_G:2104,0,3674:204954923	20	0	1	0
chr1	206602348	206602348	A	G	exonic	EIF2D	.	nonsynonymous SNV	EIF2D:NM_006893:exon7:c.T890C:p.M297T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.262	B	0.185	B	0.000	D	1.000	D	2.165	M	1.01	T	-0.939	T	0.147	T	0.895	3.518	17.97	6.11	2.343	9.258	15.537	0.321	0.0254836537021	.	.	1.651e-05	9.621e-05	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs782336121	6.157e-06	6.156e-06	8.168e-06	4.125e-06	2.319e-05	2.9e-06	2.1e-06	3.85e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	2.319e-05	6.57e-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	0.021	0.72154	D	0.004	0.74150	D	0.262	0.31549	B	0.185	0.36047	B	0.000000	0.84330	D	0.071281	1	0.81001	D	3.03	0.86425	M	1.01	0.41058	T	-3.79	0.71639	D	0.862	0.85872	-0.9385	0.42853	T	0.147	0.47273	T	10	0.5766017	0.65615	D	0.025484	0.48457	D	0.321	0.64318	0.37	0.38013	0.515375173082	0.51181	0.7088566314953528	0.70827	0.41665024781	0.42305	0.678465843201	0.64049	T	0.282421	0.65516	T	0.152489	0.69500	D	0.162791	0.80978	D	0.67084594374847	0.39375	D	0.879112	0.59504	D	0.5093748	0.67643	0.42215678	0.66126	0.5093748	0.67644	0.42215678	0.66126	-11.673	0.83222	D	.	.	0.638	0.70430	P	.;.	.;.	4.008235	0.59116	24.1	0.98731049523024128	0.45348	0.99828	0.99720	D	AEFDBI	0.911421	0.87068	D	0.398874041758966	0.61362	4.336171	0.539219128377151	0.70650	5.536623	0.999999999999013	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.11	6.11	0.99132	9.270000	0.94909	11.213000	0.89472	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.537	0.75751	643	0.63827	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	833.98	33	chr1	206602348	.	A	G	833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.682;DP=778;ExcessHet=0.0000;FS=0.870;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-3.000e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:43,36:79:99:848,0,1028	20	0	1	0
chr1	207090439	207090439	A	G	exonic	C4BPB	.	nonsynonymous SNV	C4BPB:NM_000716:exon2:c.A190G:p.N64D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.057	B	0.059	B	0.444	N	1.000	N	0.51	N	-0.08	T	-1.007	T	0.116	T	0.056	1.945	12.46	1.85	0.124	0.502	6.758	0.094	0.0315794503235	.	.	8.255e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs756416947	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.13088	T	0.468	0.12351	T	0.051	0.22415	B	0.046	0.24676	B	0.443902	0.12592	N	0.714423	1	0.08975	N	1.21	0.30464	L	-0.08	0.63911	T	-1.97	0.46503	N	0.239	0.27910	-1.0072	0.27789	T	0.116	0.40964	T	10	0.09029123	0.15716	T	0.031579	0.53626	D	0.094	0.27141	0.538	0.64874	0.0611884634855	0.05136	0.5903499117951472	0.58964	0.200835374609	0.22483	0.36507743597	0.20123	T	0.088515	0.38176	T	-0.378231	0.03196	T	-0.599551	0.12850	T	0.0479790712517464	0.05141	T	0.542746	0.18485	T	0.08880148	0.20726	0.08216585	0.18731	0.08880148	0.20726	0.08216585	0.18731	-7.173	0.55288	T	.	.	0.147	0.32396	B	.;.;.;.;.	.;.;.;.;.	1.665917	0.21242	15.11	0.97423962996638069	0.33890	0.04686	0.10369	N	AEFDGBCI	0.575477	0.57785	D	-0.96080389219678	0.09452	0.4473689	-0.928815498369225	0.11416	0.5814384	0.999998698379259	0.74766	0.559995	0.30671	0	0.624146	0.53433	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.42	1.85	0.24418	0.496000	0.22207	2.987000	0.35864	0.756000	0.94297	0.002000	0.15269	0.710000	0.26286	0.560000	0.30412	0.7129:0.0:0.2871:0.0	6.758	0.22711	663	0.61610	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1089.98	33	chr1	207090439	.	A	G	1089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.383e+00;DP=812;ExcessHet=0.0000;FS=0.690;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=-1.783e+00;SOR=0.616	GT:AD:DP:GQ:PL	0/1:68,51:119:99:1104,0,1768	20	0	1	0
chr1	207470809	207470809	G	A	exonic	CR2	.	nonsynonymous SNV	CR2:NM_001006658:exon7:c.G1295A:p.G432E	Immunodeficiency, common variable, 7, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1529158	Immunodeficiency,_common_variable,_7|CR2-related_disorder	MONDO:MONDO:0013862,MedGen:C3542922,OMIM:614699,Orphanet:1572|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	.	.	1.000	D	2.87	M	-0.65	T	0.228	D	0.561	D	0.937	2.943	15.81	4.57	2.473	4.484	13.601	0.721	0.0478423187467	.	.	0.0006	0	8.717e-05	0	0	1.501e-05	0.0011	0.0045	0.0004981	77	154602	rs781255614	0.0003	0.0003	0.0001	0.0005	0.0052	0.0003	0.0003	0.0048	0.0046	0	8.952e-05	0	0	0	0	0	0.0002	0.0052	0.0001	0.0001	6.426e-05	0.0002	0.0037	8.168e-05	6.724e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0.0005	0.0037	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.998916	0.58761	D	3.115	0.87836	M	-0.65	0.72237	T	-7.42	0.94814	D	0.779	0.78451	0.228	0.86377	D	0.561	0.84021	D	9	0.3242557	0.49752	T	0.047842	0.63107	D	0.721	0.90146	0.923	0.98673	0.918485591359	0.91766	0.8386965545119651	0.83829	0.786526509443	0.65546	0.487050294876	0.37030	T	0.559317	0.85220	D	0.0469999	0.57955	T	0.295689	0.87998	D	0.291459286039572	0.24650	T	0.891611	0.62654	D	0.7427749	0.80451	0.81015766	0.88910	0.7427749	0.80452	0.81015766	0.88910	-8.461	0.64171	D	.	.	0.249	0.48397	B	.;.;.	.;.;.	3.830964	0.55380	23.6	0.99734916495542936	0.83047	0.91612	0.53893	D	AEFBI	0.597851	0.59147	D	0.673554328408872	0.77899	6.764622	0.560725549717398	0.72148	5.764155	0.997386673999516	0.35561	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	4.57	4.57	0.55860	3.559000	0.53501	11.537000	0.93115	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.701000	0.34172	0.0:0.0:1.0:0.0	13.601	0.61483	808	0.43318	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1359.98	34	chr1	207470809	.	G	A	1359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=779;ExcessHet=0.0000;FS=0.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=1.42;SOR=0.583	GT:AD:DP:GQ:PL	0/1:50,51:101:99:1374,0,1185	20	0	1	0
chr1	209626008	209626008	C	T	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon13:c.G1616A:p.R539Q	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	761518	LAMB3-related_disorder|not_provided|Inborn_genetic_diseases|Junctional_epidermolysis_bullosa	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.377	B	0.05	B	0.000	D	0.826	N	0.235	N	0.1	T	-1.035	T	0.077	T	0.221	2.317	13.71	5.0	2.356	1.176	6.932	0.123	0.0354507522323	.	0.000599042	0.0005	0	0	0.0001	0	4.62e-05	0	0.0034	0.000401	62	154602	rs530692211	0.0003	0.0003	0.0002	0.0004	0.0033	0.0003	0.0003	0.0030	0.0028	5.978e-05	0	0	5.041e-05	0	0	0.0001	0.0002	0.0033	0.0001	0.0001	6.422e-05	0.0002	0.0035	9.736e-05	8.251e-05	0.0022	0.0018	2.405e-05	0	0	0	0	0	0	5.879e-05	0	0.0035	0.369	0.11586	T	0.381	0.15939	T	0.377	0.34270	B	0.05	0.25278	B	0.000042	0.53742	D	0.121442	0.825937	0.28822	N	0.47	0.13106	N	0.1	0.61326	T	-0.6	0.17834	N	0.119	0.11054	-1.0346	0.18983	T	0.077	0.30676	T	10	0.010803431	0.00239	T	0.035451	0.56350	D	0.123	0.34020	0.535	0.64439	0.788388627604	0.78642	0.28161148535121355	0.28074	0.134947152804	0.15209	0.453818291426	0.32466	T	0.050683	0.28666	T	-0.481517	0.00724	T	-0.466232	0.25924	T	0.0864944128708969	0.10796	T	0.660634	0.26999	T	0.06701003	0.14472	0.04915629	0.07453	0.07819125	0.17791	0.047008168	0.06676	-4.627	0.32509	T	0.16706502647149052	0.20809	0.077	0.06571	B	.;.;.	.;.;.	3.268191	0.44723	22.0	0.99677152801105606	0.78977	0.67818	0.33571	D	AEFDBCIJ	0.358221	0.44897	N	-0.231852097575016	0.31834	1.789019	-0.0565805151659125	0.37207	2.175386	0.999999936420308	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.0	5.0	0.66209	0.222000	0.17482	3.977000	0.40873	0.599000	0.40250	0.073000	0.22155	1.000000	0.68203	0.983000	0.59808	0.0:0.778:0.0:0.222	6.932	0.23625	949	0.11373	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1657.98	39	chr1	209626008	.	C	T	1657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=1032;ExcessHet=0.0000;FS=2.165;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.314;SOR=0.523	GT:AD:DP:GQ:PL	0/1:75,69:144:99:1672,0,1730	20	0	1	0
chr1	210404521	210404521	C	T	exonic	HHAT	.	nonsynonymous SNV	HHAT:NM_001170587:exon5:c.C529T:p.R177C	.	.	433	1080	6	3	0	12	0.00552486	.	.	732076	HHAT-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.18	T	0.919	P	0.263	B	0.000	D	1.000	D	0.55	N	-0.75	T	-0.627	T	0.234	T	0.455	3.651	18.56	5.54	2.605	4.834	19.113	0.166	.	.	0.00119808	0.0015	0	0.0003	0.0001	0	4.496e-05	0	0.0106	0.0012742	197	154602	rs567439002	0.0007	0.0007	0.0004	0.0011	0.0103	0.0007	0.0007	0.0097	0.0095	2.988e-05	0.0002	0	7.557e-05	0	0.0019	0.0001	0.0005	0.0103	0.0004	0.0004	0.0002	0.0006	0.0093	0.0003	0.0003	0.0072	0.0064	4.81e-05	0	0.0001	0	0.0002	0	0	0.0001	0	0.0093	0.265	0.20002	T	0.313	0.22291	T	0.849	0.46879	P	0.221	0.37837	B	0.000000	0.84330	D	0.052004	0.999858	0.81001	D	1.2	0.30300	L	-0.75	0.74053	T	-0.66	0.30964	N	0.194	0.34012	-0.6272	0.63689	T	0.234	0.60124	T	10	0.0092179775	0.00208	T	.	.	.	0.166	0.42578	.	.	0.556811950826	0.55341	0.6371672150338493	0.63650	0.173413079076	0.19527	0.467575103045	0.34348	T	0.298579	0.67113	T	-0.323856	0.06587	T	-0.230011	0.51771	T	0.0490354503941191	0.05329	T	0.933207	0.74971	D	0.20897584	0.43151	0.15171027	0.35725	0.15374242	0.34834	0.12962076	0.31161	-10.988	0.79593	D	.	.	0.198	0.47762	B	.;.;.;.;.;.	.;.;.;.;.;.	4.006484	0.59070	24.1	0.99933265455926812	0.99488	0.81870	0.41189	D	AEFBI	0.304199	0.41197	N	0.210594620591557	0.51711	3.350313	0.354722292240869	0.58793	4.052103	0.999996005973975	0.74766	0.549168	0.22868	0	0.588066	0.40923	0	0.615948	0.41167	0	0.616125	0.45549	0	.	.	5.54	5.54	0.82907	4.969000	0.63449	7.541000	0.60087	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:1.0:0.0:0.0	19.113	0.93307	700	0.57880	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1864.11	52	chr1	210404521	.	C	T	1864.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.350e-01;DP=859;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.511;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,39:84:99:0|1:210404521_C_T:984,0,1188:210404521	19	0	2	0
chr1	212626070	212626070	G	A	exonic	FAM71A	.	nonsynonymous SNV	FAM71A:NM_153606:exon1:c.G1193A:p.R398Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.002	B	0.0	B	.	.	1.000	N	-0.69	N	3.84	T	-0.929	T	0.004	T	0.093	1.289	10.22	-4.36	-1.036	-0.451	2.269	0.003	0.0011831942686	.	0.000199681	8.273e-05	0	0.0002	0	0	1.505e-05	0	0.0004	7.76e-05	12	154602	rs529865744	7.867e-05	7.867e-05	4.628e-05	0.0001	0.0008	6.667e-05	6.201e-05	0.0006	0.0006	0	0.0001	0	2.519e-05	0	0	3.597e-05	3.311e-05	0.0008	7.877e-05	7.874e-05	6.422e-05	9.397e-05	0.0015	4.492e-05	3.509e-05	0.0007	0.0005	0	0	0.0002	0	0	0	0	2.94e-05	0	0.0015	0.181	0.21884	T	0.301	0.20293	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	3.84	0.03675	T	-0.27	0.11366	N	0.09	0.06854	-0.9286	0.44342	T	0.004	0.01330	T	9	0.015544176	0.00326	T	0.001183	0.01509	T	0.003	0.00094	0.273	0.22369	0.0884992946249	0.08302	0.03841156019954008	0.03787	0.0792378066737	0.08917	0.207119524479	0.00695	T	9.95E-4	0.00532	T	-0.618823	0.00112	T	-0.777241	0.02537	T	0.0249199616823734	0.01262	T	0.361564	0.08348	T	0.021917649	0.00821	0.030120572	0.01429	0.021917649	0.00821	0.030120572	0.01428	-3.744	0.19970	T	.	.	0.068	0.02861	B	.	.	0.201288	0.05860	2.301	0.86659121364611613	0.16685	0.01367	0.04671	N	AEFDBI	0.031907	0.03505	N	-1.84277320662047	0.00449	0.01929888	-1.85468195417811	0.00599	0.02663211	0.00127200378276305	0.08400	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.17	-4.36	0.03392	-0.306000	0.08217	-0.209000	0.10871	-1.565000	0.00942	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1287:0.3645:0.2719:0.2348	2.269	0.03837	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2284.98	71	chr1	212626070	.	G	A	2284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.196;DP=1478;ExcessHet=0.0000;FS=8.540;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.288;SOR=0.930	GT:AD:DP:GQ:PL	0/1:92,92:184:99:2299,0,2273	20	0	1	0
chr1	224434204	224434204	-	GGAGGAGGA	exonic	WDR26	.	nonframeshift insertion	WDR26:NM_001379403:exon1:c.201_202insTCCTCCTCC:p.S67_V68insSSS,	.	.	.	.	.	.	.	.	.	.	.	2816080	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs144531645	0.0027	0.0024	0.0027	0.0027	0.0043	0.0026	0.0026	0.0038	0.0037	0.0008	0.0018	0.0046	0.0001	0.0012	0.0025	0.0028	0.0026	0.0043	0.0019	0.0019	0.0020	0.0018	0.0047	0.0017	0.0017	0.0032	0.0027	0.0008	0	0.0021	0.0041	0	0.0018	0	0.0025	0.0005	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	5424.84	16	chr1	224434204	.	C	CGGA,CGGAGGAGGA	5424.84	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.270;DP=500;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4485;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.97;ReadPosRankSum=-1.880e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:10,6,0:16:99:222,0,402,252,420,672	8	0	12	0
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.97	D	0.003	N	1.000	D	1.995	M	1.96	T	0.348	D	0.643	D	0.677	4.366	23.0	5.21	2.430	8.082	18.735	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/1:59,32,8:99:99:101,0,959,208,986,1229	3	0	12	4
chr1	225514708	225514708	G	C	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995G:p.A332G	.	.	425	1069	28	0	0	28	0.0129271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.97	D	0.003	N	1.000	D	2.545	M	1.97	T	0.305	D	0.679	D	0.661	4.523	24.4	5.21	2.430	8.082	18.735	0.251	0.134379640135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0006	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	0.0002	9.689e-05	2.258e-05	3.953e-05	2.59e-05	0	0	0.0002	0.0001	7.146e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.183	0.39340	T	0.994	0.66517	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999496	0.58761	D	2.62	0.76659	M	-0.04	0.63240	T	-1.88	0.43906	N	0.603	0.62950	0.305	0.87637	D	0.679	0.88907	D	10	0.44018695	0.58051	T	0.13438	0.81681	D	0.251	0.56024	0.122	0.02867	0.652436559791	0.64954	0.11579549220610402	0.11507	0.929717523318	0.71774	0.644413113594	0.59191	T	0.218669	0.58146	T	0.124294	0.66801	D	-0.0592364	0.66386	T	0.932058036327362	0.59784	D	0.871513	0.63166	D	0.18916725	0.40447	0.18597509	0.41743	0.18916725	0.40446	0.18597509	0.41742	-9.88	0.74330	D	.	.	0.252	0.51900	B	.;.;.	.;.;.	4.037834	0.59751	24.1	0.99785765454140729	0.87219	0.99631	0.98164	D	AEFDBI	0.890935	0.82643	D	0.742122182897517	0.82390	7.750937	0.716777429846324	0.83653	8.078442	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/1:59,32,8:99:99:101,0,959,208,986,1229	3	0	12	4
chr1	228158303	228158303	-	CGGCGCTGACGGCAAGGCGGC	exonic	GJC2	.	nonframeshift insertion	GJC2:NM_020435:exon2:c.545_546insCGGCGCTGACGGCAAGGCGGC:p.G190_T191insADGKAAG,	Leukodystrophy, hypomyelinating, 2, Autosomal recessive;Lymphedema, hereditary, IC, Autosomal dominant;Spastic paraplegia 44, autosomal recessive, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1420506	Spastic_paraplegia	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs758571008	4.602e-05	4.652e-05	4.544e-05	4.663e-05	5.533e-05	3.688e-05	3.356e-05	3.565e-05	3.217e-05	0	5.533e-05	0	0	0	0	4.634e-05	0.0002	2.479e-05	1.321e-05	1.315e-05	2.581e-05	0	2.424e-05	2.19e-06	8.2e-07	.	.	2.424e-05	0	0	0	0	0	0	1.475e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1173.94	33	chr1	228158303	.	T	TCGGCGCTGACGGCAAGGCGGC	1173.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.905;DP=816;ExcessHet=0.0000;FS=3.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-4.689e+00;SOR=1.175	GT:AD:DP:GQ:PL	0/1:47,34:81:99:1188,0,1827	20	0	1	0
chr1	228216604	228216604	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon7:c.G2279A:p.R760Q	.	.	0	1506	16	0	0	16	0.00528402	.	.	2816134	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.093	B	0.011	B	0.481	N	0.994	N	0.735	N	-0.27	T	-0.980	T	0.117	T	0.057	0.655	7.515	-5.63	-1.010	-0.013	14.566	0.165	.	0.0059	0.00279553	0.0122	0.0028	0.0046	0	0.0225	0.0171	0.0192	0.0087	0.0049935	772	154602	rs180689095	0.0079	0.0079	0.0080	0.0078	0.0088	0.0078	0.0077	0.0086	0.0086	0.0021	0.0030	0.0017	2.644e-05	0.0090	0.0053	0.0088	0.0065	0.0074	0.0059	0.0059	0.0063	0.0055	0.0094	0.0056	0.0055	0.0088	0.0085	0.0022	0.0033	0.0024	0.0014	0	0.0089	0	0.0094	0.0047	0.0058	0.612	0.05436	T	0.283	0.22561	T	0.093	0.25333	B	0.011	0.15521	B	0.480648	0.04979	N	1.354340	1	0.23644	N	0.94	0.23649	L	-0.27	0.67367	T	-1.62	0.38924	N	0.103	0.08925	-0.9796	0.35094	T	0.117	0.41341	T	10	0.0054911673	0.00121	T	.	.	.	0.165	0.42395	.	.	0.377097596864	0.37317	0.13569021650352167	0.13493	0.112562523064	0.12707	0.280211448669	0.07521	T	0.034287	0.23262	T	-0.586892	0.00175	T	-0.60413	0.12467	T	0.000865124745792732	0.00008	T	0.608539	0.24975	T	0.03769077	0.04881	0.039714605	0.04128	0.03664084	0.04547	0.039714605	0.04127	-5.556	0.42388	T	.	.	0.064	0.01738	B	.;.;.;.;.	.;.;.;.;.	0.506714	0.08757	5.532	0.84037164345253201	0.15061	0.00652	0.02836	N	AEFDBI	0.032702	0.03744	N	-1.42526678763177	0.02418	0.1067659	-1.49876145740299	0.02355	0.1081802	0.998577276214976	0.37226	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.06	-5.63	0.02276	-0.249000	0.08861	0.030000	0.13718	-0.161000	0.11593	0.004000	0.16614	0.000000	0.08366	0.054000	0.15518	0.3767:0.0:0.6233:0.0	14.566	0.67765	506	0.75555	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	rs180689095	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1868.98	35	chr1	228216604	.	G	A	1868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=841;ExcessHet=0.0000;FS=4.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.171;SOR=1.059	GT:AD:DP:GQ:PL	0/1:57,73:130:99:1883,0,1297	20	0	1	0
chr1	228244353	228244353	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon11:c.C3263T:p.A1088V	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.083	B	0.053	B	0.014	N	1.000	N	0.6	N	3.63	T	-0.952	T	0.009	T	0.077	-0.890	0.459	-1.64	-0.626	-0.221	10.481	0.022	0.0140660880844	.	.	7.971e-05	0.0001	0.0005	0	0	1.599e-05	0	0.0001	3.84e-05	1	26028	rs754221291	3.91e-05	3.899e-05	4.365e-05	3.449e-05	0.0002	3.055e-05	2.79e-05	8.883e-05	6.443e-05	0	0.0002	0	7.557e-05	0	0	3.154e-05	6.639e-05	8.189e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.18122	T	0.5	0.17696	T	0.016	0.24734	B	0.007	0.25678	B	0.014282	0.28577	N	0.288318	1	0.08975	N	0.38	0.12130	N	3.63	0.04353	T	-1.33	0.36385	N	0.179	0.27554	-0.9516	0.40695	T	0.009	0.03315	T	10	0.0888291	0.15333	T	0.014066	0.33936	T	0.022	0.04323	0.487	0.57098	0.183819452728	0.17975	0.08580414840294696	0.08514	0.093653211392	0.10581	0.254900276661	0.04302	T	0.044629	0.26875	T	-0.578211	0.00198	T	-0.783623	0.02346	T	0.0127842193066651	0.00217	T	0.526647	0.33070	T	0.012196822	0.00029	0.02951091	0.01296	0.012196822	0.00029	0.02951091	0.01296	-6.91	0.53373	T	.	.	0.085	0.10256	B	.;.;.;.;.	.;.;.;.;.	0.212145	0.05954	2.396	0.30756993341966615	0.01699	0.00432	0.02120	N	AEFBCI	0.064086	0.12424	N	-1.52978449312053	0.01657	0.07246394	-1.57567136408899	0.01805	0.08218054	0.00353013451993011	0.10159	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	3.8	-1.64	0.07874	-0.780000	0.04759	-6.107000	0.01495	-2.272000	0.00330	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4628:0.0:0.5372	10.481	0.43882	459	0.78817	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	4107.98	42	chr1	228244353	.	C	T	4107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=1119;ExcessHet=0.0000;FS=1.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=1.29;SOR=0.712	GT:AD:DP:GQ:PL	0/1:179,164:343:99:4122,0,4261	20	0	1	0
chr1	228279394	228279394	T	C	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon27:c.T7346C:p.V2449A	.	.	2	1513	7	0	0	7	0.00230795	.	.	696541	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.997	D	0.894	P	0.001	D	1.000	D	2.81	M	1.0	T	-0.578	T	0.200	T	0.378	2.851	15.50	4.47	1.791	7.798	14.048	0.223	0.237530812774	0.0062	0.00219649	0.0052	0.0007	0.0015	0	0.0093	0.0071	0.0046	0.0038	0.0052328	809	154602	rs200720682	0.0072	0.0071	0.0074	0.0069	0.0082	0.0070	0.0070	0.0081	0.0080	0.0010	0.0025	0.0018	2.521e-05	0.0088	0.0014	0.0082	0.0058	0.0034	0.0051	0.0051	0.0056	0.0047	0.0086	0.0048	0.0047	0.0080	0.0078	0.0012	0.0033	0.0017	0.0014	0	0.0089	0	0.0086	0.0038	0.0031	0.036	0.45039	D	0.003	0.92824	D	0.992	0.64738	D	0.798	0.58097	P	0.000625	0.42799	D	0.092821	0.760936	0.81001	D	2.685	0.78553	M	1.0	0.41392	T	-2.89	0.60665	D	0.5	0.53269	-0.5777	0.65708	T	0.200	0.55667	T	10	0.009488314	0.00214	T	0.237531	0.88548	D	0.223	0.52023	.	.	0.533276065955	0.52977	0.09685785480388628	0.09617	0.486009333891	0.47472	0.67583501339	0.63672	T	0.08595	0.37616	T	-0.376982	0.03255	T	-0.302608	0.44449	T	0.0566611394281673	0.06632	T	0.736726	0.38629	T	0.23640424	0.46490	0.20211934	0.44225	0.23794612	0.46666	0.20211934	0.44224	-10.418	0.76374	D	.	.	0.793	0.77204	P	.;.;.;.;.;.	.;.;.;.;.;.	3.397010	0.47056	22.4	0.90975387505068761	0.20225	0.98696	0.85696	D	AEFDBI	0.847991	0.76483	D	0.529113742556226	0.68819	5.269975	0.430530085280868	0.63474	4.582038	0.999999963369745	0.74766	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.47	4.47	0.53770	7.412000	0.79304	5.946000	0.51564	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.213000	0.22268	0.0:0.0:0.0:1.0	14.048	0.64238	433	0.80627	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	2563.11	38	chr1	228279394	.	T	C	2563.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.48;DP=946;ExcessHet=0.1072;FS=1.117;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=1.26;SOR=0.784	GT:AD:DP:GQ:PL	0/1:48,54:102:99:1504,0,1199	19	0	2	0
chr1	229659277	229659277	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon10:c.G4555A:p.E1519K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.941	D	0.000	D	1.000	D	1.905	M	0.82	T	-0.656	T	0.275	T	0.662	5.259	33	5.5	2.576	8.174	19.015	0.180	0.022527275655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.018	0.59732	D	0.999	0.77913	D	0.941	0.67658	D	0.000000	0.84330	D	0.046950	1	0.81001	D	2.515	0.73286	M	0.82	0.48142	T	-1.39	0.34397	N	0.705	0.70878	-0.6557	0.62465	T	0.275	0.64629	T	9	0.79105794	0.78664	D	0.022527	0.45427	T	0.180	0.45073	0.49	0.57573	0.689874887879	0.68721	0.6846074097033958	0.68399	0.48230503497	0.47191	0.541827440262	0.44704	T	0.183971	0.53648	T	0.0705571	0.60917	D	-0.136426	0.60426	T	0.959611833095551	0.65581	D	0.880112	0.59716	D	0.37535313	0.58978	0.29575565	0.55608	0.37535313	0.58978	0.29575565	0.55607	-2.602	0.06519	T	.	.	0.226	0.45738	B	.	.	4.907384	0.80710	27.4	0.99937201472321724	0.99661	0.99036	0.90290	D	AEFBI	0.846801	0.76367	D	0.737485343192617	0.82090	7.676984	0.72995708383648	0.84651	8.352356	0.999999824107318	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.5	5.5	0.81386	8.703000	0.91063	11.315000	0.92518	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.015	0.92868	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	461.45	80	chr1	229659277	.	G	A	461.45	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-4.008e+00;DP=1854;ExcessHet=0.3300;FS=260.818;InbreedingCoeff=-0.3184;MLEAC=6;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.874;SOR=10.150	GT:AD:DP:GQ:PL	0/1:124,55:179:99:333,0,2853	4	0	3	14
chr1	235161023	235161023	-	G	exonic	RBM34	.	frameshift insertion	RBM34:NM_001346738:exon2:c.97_98insC:p.Y33Sfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2976.94	34	chr1	235161023	.	T	TG	2976.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=1447;ExcessHet=0.0000;FS=6.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=-2.490e-01;SOR=1.082	GT:AD:DP:GQ:PL	0/1:108,89:197:99:2991,0,3774	20	0	1	0
chr1	235448743	235448743	G	C	exonic	TBCE	.	nonsynonymous SNV	TBCE:NM_001287802:exon16:c.G1226C:p.C409S	Encephalopathy, progressive, with amyotrophy and optic atrophy, Autosomal recessive;Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive;Kenny-Caffey syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.02	B	0.008	B	0.049	N	0.719	D	0.69	N	3.27	T	-0.964	T	0.013	T	0.339	-0.086	3.580	2.07	0.280	2.047	7.920	0.062	0.00270424055737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.786	0.04056	T	0.679	0.06128	T	0.001	0.07471	B	0.002	0.06944	B	0.049210	0.23181	N	0.518569	0.719167	0.33599	D	2.205	0.62170	M	3.27	0.06602	T	-2.26	0.50502	N	0.172	0.30461	-0.9644	0.38330	T	0.013	0.04938	T	10	0.07984525	0.12892	T	0.002704	0.05550	T	0.062	0.17934	0.542	0.65446	0.299427821978	0.29548	0.36489755878944125	0.36403	0.261867217747	0.28750	0.369527667761	0.20764	T	0.073994	0.34831	T	-0.173001	0.24783	T	-0.48628	0.23783	T	0.0847438312056983	0.10583	T	0.691131	0.36767	T	0.19127522	0.40748	0.15987286	0.37265	0.19127522	0.40748	0.15987286	0.37264	-5.214	0.43255	T	.	.	0.124	0.37539	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.624849	0.20752	14.89	0.69135488810993573	0.08876	0.81618	0.40985	D	AEFDBI	0.274217	0.38945	N	-0.627884795205516	0.18109	0.9375946	-0.500885582182076	0.22130	1.20047	0.00137220405682752	0.08487	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.96	2.07	0.26004	1.865000	0.39117	3.945000	0.40631	0.676000	0.76740	0.497000	0.26932	1.000000	0.68203	0.972000	0.54974	0.1391:0.2458:0.6151:0.0	7.920	0.29000	356	0.85138	Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;Ubiquitin domain;.;Ubiquitin domain;Ubiquitin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	946.98	34	chr1	235448743	.	G	C	946.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.854;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=0.448;SOR=0.722	GT:AD:DP:GQ:PL	0/1:58,40:98:99:961,0,1456	20	0	1	0
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	6284.06	46	chr1	240207806	.	C	T,*	6284.06	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=0.800;DP=850;ExcessHet=4.1217;FS=8.259;InbreedingCoeff=-0.1533;MLEAC=13,1;MLEAF=0.464,0.036;MQ=50.66;MQRankSum=0.217;QD=15.95;ReadPosRankSum=0.00;SOR=1.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,24,0:41:99:.:.:523,0,401,574,471,1046	4	1	8	7
chr1	245684321	245684321	G	A	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon11:c.G2347A:p.G783R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.346	B	0.121	B	.	.	0.950	N	-0.605	N	-0.81	T	-0.970	T	0.157	T	0.466	2.535	14.44	3.83	0.745	3.797	13.220	0.236	0.0253393004105	0.0002	.	3.329e-05	0.0001	8.666e-05	0	0	3.017e-05	0	0	2.59e-05	4	154602	rs368259033	1.779e-05	1.779e-05	1.77e-05	1.788e-05	8.961e-05	1.238e-05	1.052e-05	2.374e-05	1.258e-05	8.961e-05	2.236e-05	0.0001	0	0	0	1.529e-05	3.313e-05	0	5.914e-05	5.911e-05	2.569e-05	9.418e-05	0.0001	3.078e-05	2.21e-05	6.283e-05	4.3e-05	0.0001	0	0	0	0	0	0	4.409e-05	0	0	0.111	0.32929	T	0.249	0.23776	T	0.165	0.33564	B	0.075	0.32300	B	.	.	.	.	0.950364	0.26507	N	-0.29	0.03673	N	-0.81	0.73949	T	-1.96	0.45404	N	0.737	0.73735	-0.9701	0.37179	T	0.157	0.49010	T	9	0.19967112	0.35985	T	0.025339	0.48313	D	0.236	0.53931	0.442	0.49811	0.391826234366	0.38797	0.4729267934837558	0.47211	0.35881551398	0.37586	0.596722364426	0.52442	T	0.319339	0.69064	T	-0.140802	0.29762	T	-0.258501	0.48975	T	0.0758066028356552	0.09442	T	0.882012	0.60217	D	0.10605221	0.25075	0.1875609	0.41995	0.10605221	0.25075	0.1875609	0.41994	-6.609	0.51122	T	.	.	0.213	0.44214	B	.;.	.;.	1.951083	0.24781	16.52	0.99265603584166839	0.57356	0.87836	0.47514	D	AEFDBI	0.175377	0.30255	N	-0.461279538975969	0.23358	1.253855	-0.309249329059672	0.27798	1.545135	0.0166299566745142	0.12853	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.73	3.83	0.43287	3.843000	0.55575	5.009000	0.46655	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.1153:0.0:0.8847:0.0	13.220	0.59309	967	0.07127	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2566.98	34	chr1	245684321	.	G	A	2566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=957;ExcessHet=0.0000;FS=1.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-1.220e-01;SOR=0.619	GT:AD:DP:GQ:PL	0/1:109,102:211:99:2581,0,2629	20	0	1	0
chr1	248361672	248361672	A	0	exonic	OR2T4	.	.	.	.	.	444	759	27	2	290	321	0.0200129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3294.69	34	chr1	248361672	.	A	G,*	3294.69	.	AC=1,14;AF=0.025,0.350;AN=40;BaseQRankSum=-7.600e-01;DP=3320;ExcessHet=0.8717;FS=8.880;InbreedingCoeff=0.0286;MLEAC=1,14;MLEAF=0.025,0.350;MQ=60.00;MQRankSum=0.00;QD=1.30;ReadPosRankSum=0.556;SOR=0.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:187,0,52:239:99:0|1:248361635_ATGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT_A:1651,2214,10066,0,7852,7671:248361635	8	0	1	1
chr2	21007033	21007033	T	C	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.A9835G:p.S3279G,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	0	1455	64	3	0	70	0.0234899	.	.	215238	Hypercholesterolemia,_autosomal_dominant,_type_B|not_specified|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN169374|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.991	D	0.913	D	0.232	N	1.000	D	2.995	M	1.1	T	-0.676	T	0.159	T	0.029	1.334	10.38	3.41	0.579	3.329	11.412	0.264	.	0.0086	0.0071885	0.0044	0.0159	0.0067	0	0	0.0039	0.0121	0.0012	0.0044307	685	154602	rs12720854	0.0033	0.0033	0.0032	0.0033	0.0565	0.0032	0.0031	0.0515	0.0495	0.0184	0.0064	0.0102	0	0.0001	0.0565	0.0025	0.0065	0.0013	0.0076	0.0077	0.0076	0.0077	0.0170	0.0073	0.0071	0.0160	0.0156	0.0170	0	0.0103	0.0136	0.0002	0	0.0646	0.0029	0.0137	0.0010	0.015	0.52492	D	0.003	0.76473	D	.	.	.	.	.	.	0.232473	0.15889	N	0.611296	0.64386	0.30592	N	.	.	.	1.1	0.39050	T	-1.98	0.45769	N	0.246	0.27792	-0.6764	0.61538	T	0.159	0.49262	T	10	0.004425019	0.00090	T	.	.	.	0.264	0.57741	.	.	0.68203097115	0.67932	0.4890100810306947	0.48821	0.0491091118445	0.05371	0.247466355562	0.03505	T	.	.	.	-0.577868	0.00199	T	-0.589218	0.13734	T	0.0582436336760406	0.06889	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.	.	1.757170	0.22349	15.58	0.98647528733884859	0.44137	0.94699	0.62026	D	AEFBHCI	0.702324	0.65873	D	0.205179900652132	0.51449	3.326111	-0.00190597407924668	0.39631	2.352652	0.999990155919605	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.6	3.41	0.38145	3.427000	0.52552	0.098000	0.14610	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.120000	0.19168	0.0:0.0:0.1512:0.8488	11.412	0.49171	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.07143	34170.68	37	chr2	21007033	.	T	C	34170.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.423e+00;DP=3883;ExcessHet=0.3300;FS=0.520;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-6.800e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:431,447:878:99:11113,0,10947	18	0	3	0
chr2	25455439	25455439	C	T	exonic	DTNB	.	nonsynonymous SNV	DTNB:NM_001320935:exon9:c.G523A:p.A175T	.	.	429	1079	13	1	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.721	P	0.373	B	0.001	D	1.000	D	1.525	L	2.15	T	-1.003	T	0.134	T	0.774	3.038	16.14	5.11	2.530	5.439	16.389	0.134	.	0.0005	0.00758786	0.0052	0.0004	0.0005	0.0011	0	0.0005	0.0019	0.0305	0.0028395	439	154602	rs199516072	0.0015	0.0016	0.0009	0.0021	0.0222	0.0015	0.0014	0.0213	0.0210	0.0001	0.0001	0.0007	0.0006	0	0.0033	0.0002	0.0018	0.0222	0.0009	0.0009	0.0007	0.0012	0.0232	0.0008	0.0008	0.0197	0.0184	0.0002	0	6.538e-05	0.0009	0.0012	0	0	0.0002	0	0.0232	0.343	0.15665	T	0.407	0.16522	T	0.08	0.24543	B	0.045	0.24526	B	0.000669	0.42516	D	0.232463	0.999942	0.81001	D	2.25	0.63811	M	2.15	0.19726	T	-0.95	0.25332	N	0.718	0.77413	-1.0027	0.29139	T	0.134	0.44759	T	10	0.0074544847	0.00169	T	.	.	.	0.134	0.36365	.	.	0.432716982437	0.42889	0.15673944924620525	0.15594	0.133755554543	0.15066	0.695877432823	0.66549	T	0.284973	0.65776	T	-0.293436	0.09293	T	-0.177357	0.56766	T	0.0282841799250838	0.01729	T	0.972803	0.90184	D	0.10997439	0.25997	0.11933652	0.28803	0.10997439	0.25997	0.11933652	0.28803	-6.364	0.49228	T	.	.	0.110	0.27762	B	.;.;.;.;.	.;.;.;.;.	4.292717	0.65474	24.8	0.99676218906900671	0.78912	0.93840	0.59343	D	AEFDBI	0.679671	0.64362	D	0.123100685847709	0.47543	2.978446	0.27331378484753	0.53987	3.565137	0.999999987433493	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.11	5.11	0.69188	5.414000	0.66145	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	16.389	0.83361	517	0.74620	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1484.98	35	chr2	25455439	.	C	T	1484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.169e+00;DP=807;ExcessHet=0.0000;FS=1.398;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-9.500e-01;SOR=0.548	GT:AD:DP:GQ:PL	0/1:63,66:129:99:1499,0,1511	20	0	1	0
chr2	27443518	27443518	G	A	exonic	KRTCAP3	.	nonsynonymous SNV	KRTCAP3:NM_001168364:exon5:c.G601A:p.G201R	.	.	424	1078	19	1	0	21	0.0096463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.904	P	0.267	B	0.039	N	0.937	D	1.04	L	1.04	T	-1.021	T	0.078	T	0.541	2.949	15.83	5.83	2.762	2.968	17.600	0.107	.	0.0002	0.00319489	0.0023	0	0.0003	0.0001	0	0.0002	0.0022	0.0158	0.0019599	303	154602	rs140860919	0.0010	0.0010	0.0006	0.0015	0.0156	0.0010	0.0010	0.0149	0.0146	5.974e-05	2.236e-05	0	5.038e-05	0	0.0014	8.813e-05	0.0008	0.0156	0.0006	0.0006	0.0003	0.0009	0.0168	0.0005	0.0005	0.0139	0.0128	2.407e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0168	0.561	0.53900	T	0.823	0.45530	T	0.904	0.49848	P	0.267	0.39770	B	0.039479	0.24167	N	0.479309	0.869188	0.37177	D	0.345	0.11182	N	1.04	0.40218	T	0.0	0.90608	N	0.303	0.34228	-1.0207	0.23486	T	0.078	0.31133	T	10	0.0041401386	0.00082	T	.	.	.	0.107	0.30369	0.354	0.35408	0.441636318388	0.43783	0.4181076378756659	0.41726	0.171605658539	0.19324	0.461895823479	0.33571	T	0.007087	0.40791	T	-0.389414	0.02714	T	-0.319169	0.42666	T	0.0249702177853107	0.01269	T	0.705929	0.32487	T	0.13634725	0.31611	0.08662678	0.20084	0.13634725	0.31611	0.08662678	0.20083	-3.204	0.12530	T	.	.	0.089	0.23848	B	.;.;.;.	.;.;.;.	3.575398	0.50375	22.9	0.99734813014918078	0.83047	0.94046	0.59950	D	AEFDBCI	0.647266	0.62250	D	0.16364946476459	0.49460	3.146148	0.27384074030667	0.54015	3.568054	0.999999893844659	0.74766	0.72623	0.87236	0	0.694456	0.67091	0	0.594344	0.31042	0	0.636168	0.56350	0	.	.	5.83	5.83	0.93059	3.570000	0.53578	5.863000	0.50453	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.0:0.0:1.0:0.0	17.600	0.87923	63	0.97314	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3267.11	37	chr2	27443518	.	G	A	3267.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.91;DP=930;ExcessHet=0.1072;FS=0.589;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=0.963;SOR=0.754	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1695,0,1578	19	0	2	0
chr2	29071203	29071203	T	C	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.A3059G:p.Q1020R,	.	.	0	1503	19	0	0	19	0.00628099	.	.	190300	Retinitis_pigmentosa|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.42	T	0.063	B	0.018	B	0.560	N	1.000	N	1.7	L	2.01	T	-0.991	T	0.041	T	0.17	1.931	12.41	1.51	0.323	0.515	5.306	0.026	.	0.0002	0.00279553	0.0086	0.0024	0.0024	0	0.0121	0.0128	0.0074	0.0010	0.0068757	1063	154602	rs200367963	0.0087	0.0087	0.0089	0.0085	0.0098	0.0086	0.0085	0.0097	0.0096	0.0018	0.0029	0.0169	0	0.0115	0.0056	0.0098	0.0074	0.0009	0.0063	0.0063	0.0066	0.0059	0.0097	0.0059	0.0058	0.0091	0.0089	0.0014	0	0.0043	0.0179	0	0.0085	0	0.0097	0.0071	0.0006	0.117	0.28271	T	0.323	0.18959	T	0.063	0.23376	B	0.018	0.18489	B	0.559511	0.11351	N	0.796203	1	0.08975	N	.	.	.	2.01	0.21291	T	-3.06	0.63090	D	0.084	0.06059	-0.9912	0.32295	T	0.041	0.17700	T	10	0.0048058033	0.00102	T	.	.	.	0.026	0.05648	.	.	0.249502417897	0.24576	0.21886280284673723	0.21802	0.0140011853721	0.01334	.	.	.	0.019667	0.15628	T	-0.567802	0.00228	T	-0.57899	0.14634	T	0.00539879757628147	0.00059	T	0.376562	0.08996	T	0.16208237	0.36261	0.17164351	0.39362	0.1437882	0.33031	0.17164351	0.39361	-3.378	0.14762	T	.	.	0.103	0.18539	B	.	.	1.436758	0.18559	13.80	0.98913200757516251	0.48418	0.42764	0.26950	N	AEFDBI	0.121755	0.23657	N	-0.644156492515505	0.17630	0.9088619	-0.611557115836324	0.19196	1.028853	0.109324984171799	0.16604	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	1.51	0.22094	0.539000	0.22885	0.395000	0.17934	0.609000	0.47794	0.152000	0.23684	0.953000	0.29079	0.385000	0.26447	0.1293:0.2894:0.0:0.5813	5.306	0.15116	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	1	0	0	1	0	0	0	0.02381	3270.98	33	chr2	29071203	.	T	C	3270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=872;ExcessHet=0.0000;FS=4.465;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.80;ReadPosRankSum=-1.131e+00;SOR=1.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,88:174:99:0|1:29071203_T_C:3285,0,2288:29071203	20	0	1	0
chr2	29071204	29071204	G	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.C3058A:p.Q1020K,	.	.	0	1507	15	0	0	15	0.00495213	.	.	190299	not_provided|Retinitis_pigmentosa	MedGen:C3661900|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	.	.	.	.	.	.	.	.	0.53	T	0.454	P	0.09	B	0.560	N	1.000	N	2.045	M	2.0	T	-1.052	T	0.051	T	0.233	2.164	13.19	4.38	2.469	2.834	11.656	0.105	.	.	0.00279553	0.0085	0.0024	0.0024	0	0.0121	0.0127	0.0074	0.0010	0.0068693	1062	154602	rs201355503	0.0087	0.0087	0.0089	0.0085	0.0098	0.0086	0.0085	0.0097	0.0096	0.0017	0.0029	0.0169	0	0.0115	0.0053	0.0098	0.0074	0.0009	0.0063	0.0063	0.0066	0.0059	0.0097	0.0059	0.0058	0.0091	0.0088	0.0014	0	0.0043	0.0179	0	0.0085	0	0.0097	0.0071	0.0006	0.148	0.24857	T	0.356	0.17166	T	0.454	0.36182	P	0.09	0.29851	B	0.559511	0.11351	N	0.796203	1	0.08975	N	.	.	.	2.0	0.21473	T	-3.06	0.63090	D	0.25	0.28264	-1.0517	0.13926	T	0.051	0.21611	T	10	0.0063916743	0.00145	T	.	.	.	0.105	0.29889	.	.	0.393316636838	0.38940	0.2500554077571631	0.24919	0.0237916299832	0.02408	.	.	.	0.034351	0.23286	T	-0.541652	0.00328	T	-0.541427	0.18156	T	0.0217380883788979	0.00880	T	0.458954	0.13262	T	0.35774997	0.57664	0.20621154	0.44825	0.30511588	0.53360	0.20621154	0.44824	-3.734	0.19821	T	.	.	0.123	0.25689	B	.	.	3.092638	0.41652	21.4	0.98464053864446577	0.41780	0.67894	0.33599	D	AEFDBI	0.114024	0.22475	N	-0.131883062482818	0.36009	2.075708	-0.0888338562462418	0.35850	2.079073	0.590696172868296	0.21644	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	4.38	0.52019	2.585000	0.45776	8.340000	0.76993	0.526000	0.24426	0.441000	0.26495	1.000000	0.68203	0.475000	0.28453	0.0:0.1335:0.728:0.1385	11.656	0.50578	449	0.79428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2284.98	33	chr2	29071204	.	G	T	2284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.551e+00;DP=871;ExcessHet=0.0000;FS=7.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-1.341e+00;SOR=1.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,84:174:99:0|1:29071203_T_C:2299,0,3424:29071203	20	0	1	0
chr2	62874467	62874467	C	A	exonic	EHBP1	.	nonsynonymous SNV	EHBP1:NM_001142614:exon10:c.C1120A:p.P374T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.358	B	0.379	B	0.000	D	1.000	D	1.955	M	-1.01	T	-0.166	T	0.453	T	0.693	2.477	14.24	4.25	1.279	1.322	14.214	0.449	0.0471196662135	.	.	8.249e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs756892360	6.847e-06	7.525e-06	6.812e-06	6.881e-06	0.0002	3.46e-06	2.52e-06	5.411e-05	4.053e-05	0	0	0	0	0	0.0002	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.037	0.52389	D	0.073	0.33818	B	0.161	0.43814	B	0.000003	0.62929	D	0.058293	0.999959	0.52396	D	1.67	0.42885	L	-1.07	0.76948	T	-3.91	0.73042	D	0.147	0.17002	-0.1656	0.78534	T	0.453	0.78656	T	10	0.1738728	0.32236	T	0.04712	0.62773	D	0.449	0.75004	0.108	0.01928	0.58454684225	0.58127	0.5846210512901352	0.58392	0.114534984635	0.12917	0.455795764923	0.32736	T	0.160733	0.50470	T	0.0630026	0.59990	T	-0.0466476	0.67252	D	0.916989207267761	0.57463	D	0.724128	0.34774	T	0.26635227	0.49705	0.19022498	0.42414	0.26635227	0.49704	0.19022498	0.42413	-5.083	0.42204	T	.	.	0.070	0.10739	B	.;.;.;.	.;.;.;.	2.354741	0.30192	18.36	0.97379714753492752	0.33666	0.89146	0.49438	D	AEFBI	0.257813	0.37648	N	-0.00393458027907768	0.41677	2.497189	0.0944009606790591	0.44267	2.711745	0.729135263375557	0.23023	0.732398	0.92422	0	0.633656	0.55848	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.14	4.25	0.49658	1.369000	0.33832	1.755000	0.28506	-0.180000	0.10397	0.999000	0.42656	0.800000	0.26941	0.986000	0.61781	0.0:0.9263:0.0:0.0737	14.214	0.65323	448	0.79501	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	902.98	33	chr2	62874467	.	C	A	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.679e+00;DP=781;ExcessHet=0.0000;FS=1.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.42;ReadPosRankSum=0.989;SOR=0.509	GT:AD:DP:GQ:PL	0/1:20,35:55:99:917,0,521	20	0	1	0
chr2	70833852	70833852	C	T	exonic	CD207	.	nonsynonymous SNV	CD207:NM_015717:exon3:c.G359A:p.R120H,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.002	B	0.001	B	0.034	N	1.000	N	1.79	L	1.55	T	-1.059	T	0.065	T	0.073	0.970	8.960	-7.11	-1.825	-2.173	7.974	0.028	.	.	0.00279553	0.0017	0	0	0.0035	0	3e-05	0	0.0103	0.0014489	224	154602	rs180679087	0.0006	0.0006	0.0004	0.0009	0.0090	0.0006	0.0006	0.0084	0.0082	0	0	3.826e-05	0.0024	1.873e-05	0	1.979e-05	0.0006	0.0090	0.0004	0.0004	0.0002	0.0006	0.0085	0.0003	0.0003	0.0064	0.0057	2.404e-05	0	0	0	0.0029	0	0	1.47e-05	0.0005	0.0085	0.219	0.19023	T	0.052	0.47581	T	0.002	0.09854	B	0.001	0.04355	B	0.034217	0.01783	N	1.979650	1	0.08975	N	0.44	0.12706	N	1.55	0.29866	T	-0.34	0.12661	N	0.03	0.00717	-1.0587	0.12083	T	0.065	0.26702	T	10	0.0045823455	0.00095	T	.	.	.	0.028	0.06331	.	.	0.223146558224	0.21909	0.221996401738863	0.22114	0.172064591541	0.19376	0.206225305796	0.00661	T	0.077637	0.35702	T	-0.72375	0.00026	T	-0.805144	0.01777	T	0.0134695702002658	0.00246	T	0.412159	0.10706	T	0.021946222	0.00826	0.02705147	0.00830	0.01786913	0.00311	0.026870823	0.00801	-3.248	0.13076	T	.	.	0.06	0.00934	B	.	.	-0.686578	0.01352	0.076	0.83012497512084971	0.14495	0.00505	0.02373	N	AEFBI	0.037142	0.05061	N	-1.4481561499811	0.02231	0.09830712	-1.59898786722732	0.01661	0.07542883	0.97535209248877	0.29626	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.23	-7.11	0.01389	-1.992000	0.01566	-11.985000	0.00559	-0.879000	0.02478	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.1437:0.2005:0.0:0.6559	7.974	0.29304	876	0.30350	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2597.98	39	chr2	70833852	.	C	T	2597.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=1657;ExcessHet=0.0000;FS=3.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.327;SOR=0.905	GT:AD:DP:GQ:PL	0/1:120,101:221:99:2612,0,2882	20	0	1	0
chr2	71526286	71526286	G	C	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130455:exon12:c.G1123C:p.V375L	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	YES	0	1511	10	1	0	12	0.00395517	.	.	100164	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|not_specified|not_provided|Qualitative_or_quantitative_defects_of_dysferlin	MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.018	B	0.079	B	0.001	D	0.773	D	1.735	L	-1.52	D	-0.450	T	0.294	T	0.056	1.327	10.35	2.23	0.816	2.301	8.100	0.214	.	0.0081	0.00219649	0.0057	0.0019	0.0016	0	0.0092	0.0081	0.0066	0.0025	0.0056856	879	154602	rs150724610	0.0085	0.0085	0.0087	0.0083	0.0101	0.0084	0.0083	0.0100	0.0099	0.0012	0.0020	0.0001	2.519e-05	0.0078	0.0009	0.0101	0.0068	0.0024	0.0061	0.0061	0.0067	0.0055	0.0101	0.0058	0.0056	0.0095	0.0093	0.0014	0.0011	0.0040	0	0	0.0085	0	0.0101	0.0052	0.0029	0.089	0.32929	T	0.092	0.40909	T	0.002	0.17786	B	0.031	0.25434	B	0.000910	0.41128	D	0.212330	0.772638	0.34170	D	0.97	0.24054	L	-1.52	0.81478	D	-1.84	0.44284	N	0.154	0.17966	-0.4504	0.70387	T	0.294	0.66526	T	10	0.007504314	0.00171	T	.	.	.	0.214	0.50650	0.723	0.85761	0.635721508651	0.63273	0.35759641796665004	0.35673	0.160484152637	0.18112	0.478802144527	0.35892	T	0.264942	0.63676	T	-0.455883	0.01042	T	-0.421365	0.30919	T	0.00645475597468689	0.00072	T	0.917608	0.72230	D	0.07233059	0.16083	0.099955626	0.23884	0.0855163	0.19841	0.096285954	0.22870	-6.061	0.50525	T	0.08613788668318835	0.04929	0.223	0.48541	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.940558	0.57659	23.9	0.97828473811411021	0.36246	0.81161	0.40624	D	AEFBI	0.237441	0.35972	N	-0.310802416255865	0.28736	1.587536	-0.237463086190991	0.30205	1.698712	0.999822882834597	0.43622	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.47	2.23	0.27189	3.148000	0.50343	.	.	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.981000	0.58702	0.3107:0.0:0.6893:0.0	8.100	0.30013	541	0.72942	.;.;.;.;FerIin domain|FerIin domain;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	984.98	35	chr2	71526286	.	G	C	984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.48;DP=839;ExcessHet=0.0000;FS=3.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.161;SOR=1.034	GT:AD:DP:GQ:PL	0/1:90,42:132:99:999,0,2196	20	0	1	0
chr2	72135320	72135320	C	T	exonic	CYP26B1	.	nonsynonymous SNV	CYP26B1:NM_001277742:exon2:c.G304A:p.E102K	Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies	.	0	1508	14	0	0	14	0.00462046	.	.	2142868	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.069	B	0.046	B	0.000	D	1.000	D	0.44	N	-0.33	T	-0.921	T	0.171	T	0.578	3.536	18.05	5.03	2.504	7.818	17.309	0.178	0.0168708821212	.	0.000399361	0.0002	0	8.643e-05	0.0009	0	0.0001	0.0011	0.0008	0.0002135	33	154602	rs201533354	0.0003	0.0003	0.0002	0.0003	0.0012	0.0002	0.0002	0.0010	0.0009	5.974e-05	0.0001	0	0.0009	0	0.0009	0.0002	0.0002	0.0012	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	9.231e-05	0.0005	0.0004	0	0	0	0	0.0006	0	0.0068	0.0002	0	0.0012	0.181	0.25979	T	0.2	0.31833	T	0.038	0.21002	B	0.046	0.24676	B	0.000004	0.62929	D	0.103713	0.999755	0.81001	D	1.395	0.35261	L	-0.33	0.68329	T	-0.74	0.20791	N	0.604	0.65416	-0.9209	0.45431	T	0.171	0.51197	T	10	0.061003387	0.07582	T	0.016871	0.38326	T	0.178	0.44724	.	.	0.76633401229	0.76419	0.6169291788472614	0.61624	0.509482412268	0.49079	0.647366881371	0.59611	T	0.093796	0.39285	T	-0.226625	0.17097	T	-0.187463	0.55829	T	0.0887437599528497	0.11067	T	0.929807	0.74042	D	0.32108235	0.54731	0.23576799	0.48830	0.32108235	0.54731	0.23576799	0.48829	-5.021	0.37067	T	.	.	0.088	0.11749	B	.;.;.;.	.;.;.;.	4.130489	0.61802	24.4	0.99813196290110684	0.89708	0.98581	0.84338	D	AEFDBI	0.906502	0.85936	D	-0.0195049013959334	0.40974	2.44262	0.192337846663805	0.49425	3.145944	0.999999948659284	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	5.03	5.03	0.67015	7.905000	0.86479	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.309	0.87091	920	0.19381	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2757.11	35	chr2	72135320	.	C	T	2757.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.00;DP=897;ExcessHet=0.1072;FS=0.526;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.862;SOR=0.775	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1271,0,1268	19	0	2	0
chr2	73081099	73081101	TCC	-	exonic	RAB11FIP5	.	nonframeshift deletion	RAB11FIP5:NM_001371272:exon4:c.2131_2133del:p.G712del,	.	.	481	755	173	66	47	352	0.168044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1438.94	11	chr2	73081095	.	TTCCTCC	T,TTCC	1438.94	.	AC=6,2;AF=0.143,0.048;AN=42;BaseQRankSum=0.812;DP=242;ExcessHet=3.5521;FS=2.847;InbreedingCoeff=-0.2414;MLEAC=6,2;MLEAF=0.143,0.048;MQ=60.00;MQRankSum=0.00;QD=16.54;ReadPosRankSum=0.180;SOR=0.993	GT:AD:DP:GQ:PL	0/2:9,0,3:12:97:97,124,493,0,369,360	13	0	6	0
chr2	73292634	73292634	G	A	exonic	EGR4	.	nonsynonymous SNV	EGR4:NM_001965:exon2:c.C284T:p.P95L,	.	.	413	1095	14	0	0	14	0.00635209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.772	P	0.109	B	0.000	D	1.000	D	0.55	N	2.6	T	-1.045	T	0.025	T	0.632	3.118	16.42	4.04	2.067	4.555	14.918	0.144	0.0278407340441	0.0004	0.000599042	0.0009	0.0004	0.0011	0	0	0.0005	0.0019	0.0062	0.0007827	121	154602	rs35980039	0.0006	0.0006	0.0004	0.0007	0.0051	0.0005	0.0005	0.0047	0.0045	0.0004	0.0008	0.0010	2.697e-05	1.935e-05	0.0033	0.0003	0.0006	0.0051	0.0004	0.0004	0.0004	0.0005	0.0033	0.0003	0.0003	0.0021	0.0017	0.0003	0	0.0008	0.0012	0	0	0.0034	0.0003	0.0005	0.0033	0.0	0.91255	D	0.037	0.65728	D	.	.	.	.	.	.	0.000231	0.47286	D	0.091962	0.999787	0.49076	D	0.695	0.17993	N	2.6	0.18414	T	-1.83	0.42957	N	0.404	0.50598	-1.0450	0.15825	T	0.025	0.10688	T	10	0.006446719	0.00146	T	0.027841	0.50599	D	0.144	0.38394	.	.	0.569878715874	0.56654	0.3288451145038105	0.32797	1.39876295826	0.85150	0.795788109303	0.81322	T	0.275094	0.64762	T	-0.380871	0.03077	T	-0.321344	0.42427	T	0.0426380537075583	0.04172	T	0.854215	0.54741	D	0.3321644	0.55648	0.45497072	0.68311	0.3321644	0.55648	0.45497072	0.68311	-3.773	0.20401	T	.	.	0.531	0.73111	A	.;.	.;.	5.031941	0.83695	28.1	0.99869541305243181	0.94726	0.58054	0.30539	D	AEFDBHCI	0.234099	0.35691	N	0.0891387108244644	0.45956	2.843675	0.188975862922973	0.49240	3.129755	0.999987894569934	0.51787	0.59774	0.34471	0	0.541168	0.11318	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.04	4.04	0.46262	2.169000	0.42061	11.734000	0.95055	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	14.918	0.70455	555	0.71762	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1234.98	37	chr2	73292634	.	G	A	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=823;ExcessHet=0.0000;FS=1.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.324;SOR=0.909	GT:AD:DP:GQ:PL	0/1:56,49:105:99:1249,0,1332	20	0	1	0
chr2	73385912	73385912	-	GGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGA:p.E28_A29insE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:16,15,0,0,0,0:31:99:541,0,588,589,633,1223,589,633,1223,1223,589,633,1223,1223,1223,589,633,1223,1223,1223,1223	0	4	5	0
chr2	73385907	73385912	GGAGGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.39_44del:p.E27_E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:16,15,0,0,0,0:31:99:541,0,588,589,633,1223,589,633,1223,1223,589,633,1223,1223,1223,589,633,1223,1223,1223,1223	0	4	5	0
chr2	73385910	73385912	GGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.42_44del:p.E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:16,15,0,0,0,0:31:99:541,0,588,589,633,1223,589,633,1223,1223,589,633,1223,1223,1223,589,633,1223,1223,1223,1223	0	4	5	0
chr2	73385912	73385912	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:16,15,0,0,0,0:31:99:541,0,588,589,633,1223,589,633,1223,1223,589,633,1223,1223,1223,589,633,1223,1223,1223,1223	0	4	5	0
chr2	94871904	94871904	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_144705:exon1:c.A325G:p.M109V,	.	.	423	1067	31	1	0	33	0.0152284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.0	B	0.006	N	1.000	N	-1.265	N	4.4	T	-0.937	T	0.002	T	0.121	-1.615	0.013	-1.91	-0.992	1.618	4.088	0.064	0.00122875723365	.	.	0.0001	0.0005	0	0	0	0.0001	0	0	0.0007568	117	154602	rs77824556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.301	0.20293	T	0.0	0.02946	B	0.0	0.01387	B	0.006010	0.32339	N	0.291643	1	0.08975	N	-1.705	0.00347	N	4.4	0.02215	T	1.17	0.01121	N	0.045	0.01740	-0.9369	0.43103	T	0.002	0.00707	T	10	0.02163878	0.00522	T	0.001229	0.01633	T	0.064	0.18567	.	.	0.107399877778	0.10242	0.11023828764567724	0.10952	0.0293419903988	0.03019	0.716191112995	0.69491	T	0.02647	0.19579	T	-0.332775	0.05903	T	-0.715784	0.05001	T	0.0280548110973322	0.01696	T	0.232777	0.03161	T	0.06496922	0.13836	0.09327323	0.22022	0.06496922	0.13836	0.09327323	0.22021	-2.804	0.08221	T	.	.	0.059	0.00793	B	.	.	0.636446	0.10050	6.799	0.4154982300263122	0.03005	0.05116	0.10920	N	AEFDGBHI	0.024169	0.01454	N	-1.39660453890581	0.02670	0.1182283	-1.38285152646484	0.03434	0.1601971	0.955553942976374	0.28196	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	1.84	-1.91	0.07225	1.406000	0.34254	2.690000	0.34081	-0.324000	0.05829	0.075000	0.22209	0.999000	0.35428	0.024000	0.12247	0.5824:0.2018:0.2158:0.0	4.088	0.09432	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	345.68	49	chr2	94871904	.	A	G	345.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.573e+00;DP=1031;ExcessHet=0.3300;FS=1.528;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.92;MQRankSum=-7.507e+00;QD=1.08;ReadPosRankSum=-1.448e+00;SOR=0.549	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,11:113:99:1|0:94871877_A_G:155,0,4250:94871877	18	0	3	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I	.	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.207	B	0.092	B	0.005	N	0.996	D	-0.23	N	4.47	T	-0.881	T	0.003	T	0.423	-1.806	0.009	1.05	1.049	-0.033	7.455	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	8192.58	228	chr2	94876587	.	C	A	8192.58	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.040e-01;DP=4322;ExcessHet=17.4423;FS=7.871;InbreedingCoeff=-0.5628;MLEAC=15;MLEAF=0.357;MQ=58.06;MQRankSum=-1.627e+01;QD=2.09;ReadPosRankSum=-3.458e+00;SOR=1.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:268,28:296:99:0|1:94876587_C_A:369,0,11045:94876587	6	0	15	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G	.	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.919	D	0.000	D	1.000	D	3.26	M	3.93	T	-1.109	T	0.045	T	0.571	3.511	17.94	2.43	1.049	4.806	10.548	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	33671.17	300	chr2	94876618	.	C	G	33671.17	.	AC=17;AF=0.425;AN=40;BaseQRankSum=-2.098e+00;DP=6579;ExcessHet=25.1139;FS=1.453;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.450;MQ=57.19;MQRankSum=-1.858e+01;QD=5.73;ReadPosRankSum=-2.736e+00;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:300,83:383:99:0|1:94876587_C_A:2582,0,12347:94876587	3	0	17	1
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C	.	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.048	B	0.017	B	0.105	N	1.000	D	1.645	L	4.19	T	-0.957	T	0.009	T	0.649	1.193	9.848	1.05	1.049	0.077	6.095	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.45	45706.22	343	chr2	94876632	.	C	T	45706.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-3.939e+00;DP=7445;ExcessHet=30.0624;FS=0.645;InbreedingCoeff=-0.7872;MLEAC=19;MLEAF=0.475;MQ=56.72;MQRankSum=-1.920e+01;QD=6.73;ReadPosRankSum=-7.690e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:319,105:424:99:0|1:94876587_C_A:3388,0,13038:94876587	2	0	18	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V	.	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.967	D	0.77	P	0.000	D	1.000	D	2.675	M	3.8	T	-1.154	T	0.035	T	0.579	2.768	15.22	2.43	0.866	3.036	8.354	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	58582.68	398	chr2	94876671	.	A	G	58582.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-7.281e+00;DP=8408;ExcessHet=36.0830;FS=0.633;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.56;MQRankSum=-2.037e+01;QD=7.10;ReadPosRankSum=4.57;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:354,119:473:99:0|1:94876671_A_G:3932,0,14303:94876671	2	0	19	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T	.	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.003	B	0.013	B	0.040	N	0.984	N	3.03	M	4.15	T	-0.940	T	0.013	T	0.4	0.667	7.574	-2.21	-0.321	0.130	6.926	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4524	58619.68	400	chr2	94876674	.	G	A	58619.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-6.968e+00;DP=8442;ExcessHet=36.0830;FS=0.632;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.55;MQRankSum=-2.055e+01;QD=7.10;ReadPosRankSum=4.91;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:354,119:473:99:0|1:94876671_A_G:3931,0,14332:94876671	2	0	19	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C	.	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.572	P	0.148	B	0.002	N	1.000	D	1.87	L	4.11	T	-0.879	T	0.010	T	0.568	2.034	12.76	2.43	1.049	0.890	10.548	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.4048	26857.9	353	chr2	94876731	.	C	T	26857.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.609e+00;DP=7291;ExcessHet=25.1139;FS=3.279;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=57.21;MQRankSum=-2.034e+01;QD=3.85;ReadPosRankSum=-1.165e+00;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:355,96:451:99:.:.:2508,0,9286	4	0	17	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T	.	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	1.0	D	0.000	D	1.000	D	2.125	M	4.16	T	-1.119	T	0.028	T	0.662	3.703	18.81	2.43	1.049	3.135	10.548	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	9909.42	357	chr2	94876737	.	C	A	9909.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.994e+00;DP=5582;ExcessHet=9.6308;FS=1.817;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=56.98;MQRankSum=-1.456e+01;QD=2.02;ReadPosRankSum=-2.106e+00;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:381,70:451:99:0|1:94876737_C_A:1772,0,15638:94876737	9	0	12	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P	.	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.125	B	0.085	B	0.131	N	1.000	N	2.43	M	4.2	T	-0.996	T	0.012	T	0.464	1.473	10.87	1.2	0.866	-1.017	2.624	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	10071.42	352	chr2	94876740	.	A	C	10071.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-1.875e+00;DP=5568;ExcessHet=9.6308;FS=1.912;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=57.10;MQRankSum=-1.500e+01;QD=2.08;ReadPosRankSum=-2.492e+00;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:376,70:446:99:0|1:94876737_C_A:1787,0,15451:94876737	9	0	12	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S,	.	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	1.32	L	2.56	T	-0.945	T	0.020	T	0.057	1.140	9.645	-5.28	-1.321	0.150	0.771	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	31056.74	205	chr2	95855390	.	T	C	31056.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.80;DP=5080;ExcessHet=54.0936;FS=20.631;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.44;MQRankSum=-1.119e+01;QD=6.32;ReadPosRankSum=-6.536e+00;SOR=2.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:193,78:271:99:.:.:1860,0,4937	0	0	21	0
chr2	95855402	95855402	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.C5957T:p.A1986V,	.	.	430	1069	23	0	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	1.000	N	0.55	N	2.57	T	-0.954	T	0.019	T	0.064	2.508	14.34	-5.04	-0.601	1.436	5.100	0.048	0.000631896702872	.	.	0.0002	0.0001	8.678e-05	0	0	0.0003	0.0011	0.0002	3.84e-05	1	26028	rs76606859	2.053e-06	8.893e-06	4.086e-06	0	.	5.5e-07	1.5e-07	.	.	0	0	0	0	5.639e-05	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.085	0.32769	T	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.57	0.13552	T	-1.77	0.41809	N	0.165	0.17416	-0.9544	0.40203	T	0.019	0.07846	T	7	0.08118898	0.13264	T	6.32E-4	0.00319	T	0.048	0.13305	.	.	0.0551355673512	0.04727	0.010211084344198413	0.00983	.	.	.	.	.	0.003816	0.03222	T	-0.347539	0.04883	T	-0.736992	0.04019	T	0.100647859275341	0.12429	T	0.462454	0.13421	T	0.03511514	0.04071	0.05560817	0.09786	0.03511514	0.04071	0.05560817	0.09786	-6.012	0.46381	T	.	.	0.260	0.49451	B	.	.	1.035434	0.14157	10.73	0.98637519765940418	0.44001	0.07756	0.13755	N	AEFI	0.042056	0.06477	N	-0.800839877268318	0.13288	0.6535874	-0.97423012277431	0.10366	0.5216334	2.64000259135655E-4	0.06244	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.04	0.02742	1.747000	0.37925	-0.122000	0.11711	0.318000	0.19305	0.993000	0.37899	0.000000	0.08366	0.055000	0.15596	0.2997:0.0:0.4912:0.2092	5.100	0.14091	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	122.11	207	chr2	95855402	.	G	A	122.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.271;DP=5032;ExcessHet=0.1072;FS=0.912;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.70;MQRankSum=-5.511e+00;QD=0.21;ReadPosRankSum=-2.359e+00;SOR=0.929	GT:AD:DP:GQ:PL	0/1:278,30:308:49:49,0,8141	19	0	2	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H,	.	.	432	686	404	0	0	404	0.227477	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0.235	N	2.59	T	-0.942	T	0.018	T	0.062	0.675	7.614	-0.833	0.028	1.770	6.110	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7228.38	236	chr2	95855406	.	C	G	7228.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.43;DP=5612;ExcessHet=17.4423;FS=6.424;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=53.45;MQRankSum=-6.363e+00;QD=1.79;ReadPosRankSum=-3.638e+00;SOR=1.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:284,32:316:95:.:.:95,0,8337	6	0	15	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S,	.	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.62	T	-0.930	T	0.011	T	0.014	-2.217	0.005	-0.838	-0.224	0.602	6.069	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	75221.74	386	chr2	95855549	.	T	C	75221.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.304e+00;DP=7464;ExcessHet=54.0936;FS=12.010;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=44.23;MQRankSum=-1.248e+01;QD=10.32;ReadPosRankSum=0.574;SOR=1.209	GT:AD:DP:GQ:PL	0/1:178,203:381:99:4647,0,4715	0	0	21	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T,	.	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	1.000	N	1.175	L	2.41	T	-1.026	T	0.039	T	0.224	1.957	12.50	2.11	1.218	0.837	8.115	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	63179.74	326	chr2	95855576	.	A	G	63179.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.434e+00;DP=6464;ExcessHet=54.0936;FS=27.969;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=46.08;MQRankSum=-1.255e+01;QD=10.07;ReadPosRankSum=-2.075e+00;SOR=1.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:198,125:323:99:.:.:4102,0,5629	0	0	21	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V,	.	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	.	.	.	.	.	.	1.000	N	0.625	N	2.59	T	-0.961	T	0.019	T	0.071	-0.386	2.186	-2.48	-0.579	0.734	3.442	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8954.51	309	chr2	95855586	.	T	C	8954.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.765;DP=6041;ExcessHet=30.0624;FS=14.124;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.89;MQRankSum=-6.696e+00;QD=1.78;ReadPosRankSum=-2.125e+00;SOR=2.133	GT:AD:DP:GQ:PL	0/1:224,81:305:99:1753,0,8747	3	0	18	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R,	.	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	.	.	1.000	N	0.67	N	2.4	T	-0.978	T	0.023	T	0.059	-0.264	2.731	0.82	0.218	1.729	2.541	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.5	49926.74	306	chr2	95855588	.	T	C	49926.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.094e+00;DP=5999;ExcessHet=54.0936;FS=32.611;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=47.18;MQRankSum=-1.171e+01;QD=8.52;ReadPosRankSum=-4.041e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:190,104:294:99:.:.:3392,0,5357	0	0	21	0
chr2	95859919	95859922	TTTC	-	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.4933_4936del:p.E1645*,	.	.	883	625	11	3	0	17	0.0134175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs768643439	2.009e-05	0.0015	1.84e-05	2.183e-05	6.369e-05	1.393e-05	1.199e-05	2.459e-05	1.549e-05	6.369e-05	2.828e-05	0	2.817e-05	0.0003	0	2.786e-06	3.457e-05	6.362e-05	6.589e-06	0.0009	1.289e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	233.09	99	chr2	95859918	.	ATTTC	A	233.09	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.380e-01;DP=2433;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0506;MLEAC=2;MLEAF=0.048;MQ=58.71;MQRankSum=-3.553e+00;QD=0.86;ReadPosRankSum=1.50;SOR=0.681	GT:AD:DP:GQ:PL	0/1:117,13:130:99:194,0,4833	19	0	2	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4,	.	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28198.39	155	chr2	95859969	.	A	AT	28198.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.047e+00;DP=3277;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.329e+00;QD=8.84;ReadPosRankSum=0.032;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,45:170:99:0|1:95859969_A_AT:1493,0,5065:95859969	1	0	20	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M,	.	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.053	B	0.021	B	.	.	0.994	N	-1.7	N	2.42	T	-0.981	T	0.008	T	0.245	-3.330	0.001	-3.7	-1.374	-0.833	3.712	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	28168.43	155	chr2	95859970	.	G	T	28168.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.065;DP=3274;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.99;MQRankSum=-9.404e+00;QD=8.80;ReadPosRankSum=0.078;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,45:170:99:0|1:95859969_A_AT:1493,0,5065:95859969	1	0	20	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q,	.	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.055	B	0.007	B	.	.	1.000	N	-1.355	N	2.42	T	-0.947	T	0.010	T	0.097	-0.493	1.736	0.634	0.138	0.540	5.605	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	27722.43	155	chr2	95859975	.	C	T	27722.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.800e-02;DP=3242;ExcessHet=43.6797;FS=2.825;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.484e+00;QD=8.72;ReadPosRankSum=-1.190e-01;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,44:171:99:0|1:95859969_A_AT:1465,0,5121:95859969	1	0	20	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G,	.	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.618	P	0.296	B	.	.	1.000	P	0.345	N	2.35	T	-1.040	T	0.022	T	0.211	-0.948	0.346	1.85	1.110	0.027	3.593	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	24477.43	159	chr2	95859988	.	T	C	24477.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.265;DP=3203;ExcessHet=43.6797;FS=2.880;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.88;MQRankSum=-9.614e+00;QD=7.83;ReadPosRankSum=-7.870e-01;SOR=0.923	GT:AD:DP:GQ:PL	0/1:124,39:163:99:1124,0,3176	1	0	20	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L,	.	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.898	P	0.775	P	.	.	1.000	P	1.965	M	2.2	T	-0.998	T	0.066	T	0.49	0.033	4.184	-0.873	-0.207	1.019	2.065	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	17994.43	154	chr2	95860002	.	T	A	17994.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.989;DP=3061;ExcessHet=43.6797;FS=3.053;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.84;MQRankSum=-9.029e+00;QD=6.03;ReadPosRankSum=-1.082e+00;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,33:157:99:0|1:95860002_T_A:1012,0,5069:95860002	1	0	20	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E,	.	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.886	P	0.685	P	.	.	1.000	P	1.1	L	2.36	T	-1.031	T	0.037	T	0.093	0.511	6.772	0.608	0.161	0.077	4.768	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	21658.43	153	chr2	95860007	.	A	T	21658.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.16;DP=2998;ExcessHet=43.6797;FS=3.057;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.82;MQRankSum=-8.906e+00;QD=7.38;ReadPosRankSum=-1.059e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,32:154:99:0|1:95860002_T_A:976,0,5016:95860002	1	0	20	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I,	.	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	.	.	1.000	P	-1.385	N	2.38	T	-0.937	T	0.010	T	0.175	-3.138	0.001	0.635	0.138	3.039	5.605	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	18382.43	145	chr2	95860020	.	G	A	18382.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.556;DP=2780;ExcessHet=43.6797;FS=4.214;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.76;MQRankSum=-8.652e+00;QD=6.86;ReadPosRankSum=-1.267e+00;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,30:142:99:0|1:95860020_G_A:923,0,4531:95860020	1	0	20	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X,	.	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	15.302	49	-0.698	-0.207	0.666	5.748	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	17446.43	144	chr2	95860023	.	A	C	17446.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.97;DP=2699;ExcessHet=43.6797;FS=5.438;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.71;MQRankSum=-8.809e+00;QD=6.58;ReadPosRankSum=-1.356e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,26:138:99:0|1:95860020_G_A:755,0,4544:95860020	1	0	20	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N,	.	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	P	-1.59	N	2.33	T	-0.964	T	0.008	T	0.055	-3.899	0.001	-2.51	-0.641	0.852	0.839	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	11608.43	114	chr2	95860046	.	C	A	11608.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.094;DP=2166;ExcessHet=43.6797;FS=7.428;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.39;MQRankSum=-9.225e+00;QD=5.60;ReadPosRankSum=-1.053e+00;SOR=1.366	GT:AD:DP:GQ:PL	0/1:87,19:106:99:537,0,2410	1	0	20	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24,	.	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	19293.39	162	chr2	95927222	.	G	GAT	19293.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=2.91;DP=3244;ExcessHet=43.6797;FS=41.935;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.80;MQRankSum=-9.777e+00;QD=6.04;ReadPosRankSum=-5.428e+00;SOR=4.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,39:181:99:0|1:95927222_G_GAT:1210,0,5844:95927222	1	0	20	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18,	.	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28849.39	181	chr2	95927226	.	GTT	G	28849.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.24;DP=3663;ExcessHet=43.6797;FS=12.728;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.66;MQRankSum=-1.068e+01;QD=7.97;ReadPosRankSum=-5.292e+00;SOR=1.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,54:211:99:0|1:95927222_G_GAT:1795,0,6429:95927222	1	0	20	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G,	.	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	2.045	M	-1.11	T	-0.526	T	0.427	T	0.17	0.495	6.683	0.578	0.482	1.675	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	39187.43	200	chr2	95927234	.	T	C	39187.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.176e+00;DP=4058;ExcessHet=43.6797;FS=7.313;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.37;MQRankSum=-1.145e+01;QD=9.76;ReadPosRankSum=-5.766e+00;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,67:240:99:0|1:95927222_G_GAT:2293,0,7063:95927222	1	0	20	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T,	.	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	.	.	.	.	.	.	1.000	N	2.175	M	-1.08	T	-0.803	T	0.326	T	0.253	0.721	7.838	-1.16	-0.580	0.588	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	71909.43	290	chr2	95927252	.	A	G	71909.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.880e-01;DP=5309;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.50;MQRankSum=-1.377e+01;QD=13.66;ReadPosRankSum=-5.061e+00;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,114:310:99:0|1:95927222_G_GAT:4197,0,7887:95927222	1	0	20	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y,	.	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	2.175	M	-1.1	T	-0.487	T	0.446	T	0.443	1.148	9.675	0.578	0.573	0.559	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	99348.43	354	chr2	95927268	.	C	A	99348.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.669e+00;DP=6340;ExcessHet=43.6797;FS=3.258;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.67;MQRankSum=-1.545e+01;QD=15.78;ReadPosRankSum=-3.350e+00;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,172:383:99:0|1:95927222_G_GAT:6466,0,8339:95927222	1	0	20	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N,	.	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	P	2.135	M	-1.07	T	-0.030	T	0.463	T	0.042	2.046	12.80	0.578	0.573	1.620	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	100976.43	370	chr2	95927277	.	C	T	100976.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-6.195e+00;DP=6692;ExcessHet=43.6797;FS=2.488;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.63;MQRankSum=-1.581e+01;QD=15.46;ReadPosRankSum=-7.660e-01;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,176:393:99:0|1:95927222_G_GAT:6534,0,8405:95927222	1	0	20	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G,	.	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	P	.	.	-1.41	T	-0.324	T	0.401	T	0.195	1.779	11.91	0.871	0.621	1.851	3.983	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	41574.43	202	chr2	95929092	.	T	C	41574.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.846;DP=3927;ExcessHet=43.6797;FS=3.785;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.18;MQRankSum=-9.680e+00;QD=10.76;ReadPosRankSum=-3.033e+00;SOR=1.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,67:200:99:0|1:95929092_T_C:2325,0,5282:95929092	1	0	20	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T,	.	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	.	.	-1.17	T	-0.746	T	0.297	T	0.219	0.645	7.463	-0.637	-0.224	0.734	2.815	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	51819.43	236	chr2	95929110	.	A	G	51819.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=9.99;DP=4508;ExcessHet=43.6797;FS=8.254;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=45.41;MQRankSum=-9.797e+00;QD=11.60;ReadPosRankSum=-2.111e+00;SOR=1.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,76:226:99:0|1:95929092_T_C:2740,0,6070:95929092	1	0	20	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y,	.	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	.	.	-0.96	T	-0.705	T	0.302	T	0.375	1.013	9.136	0.871	0.742	0.666	5.051	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	67411.43	272	chr2	95929126	.	C	A	67411.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.03;DP=5235;ExcessHet=43.6797;FS=15.425;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=44.20;MQRankSum=-1.062e+01;QD=12.98;ReadPosRankSum=-1.058e+00;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,97:267:99:0|1:95929092_T_C:3561,0,6846:95929092	1	0	20	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E,	.	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	-0.99	T	-0.983	T	0.120	T	0.057	0.583	7.149	-0.054	-0.059	0.169	4.774	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	71752.43	282	chr2	95929130	.	G	C	71752.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=5.49;DP=5406;ExcessHet=43.6797;FS=17.088;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.89;MQRankSum=-1.053e+01;QD=13.38;ReadPosRankSum=-8.420e-01;SOR=1.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,99:275:99:0|1:95929092_T_C:3627,0,7092:95929092	1	0	20	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N,	.	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	.	.	1.000	N	.	.	-1.0	T	-0.975	T	0.178	T	0.032	1.786	11.93	-0.087	-0.070	0.689	3.151	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	75077.43	291	chr2	95929135	.	C	T	75077.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=6.83;DP=5658;ExcessHet=43.6797;FS=16.868;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.43;MQRankSum=-1.046e+01;QD=13.67;ReadPosRankSum=-5.410e-01;SOR=1.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,109:283:99:0|1:95929092_T_C:3974,0,6972:95929092	1	0	20	0
chr2	96816944	96816944	C	G	exonic	CNNM3	.	nonsynonymous SNV	CNNM3:NM_017623:exon1:c.C667G:p.P223A	.	.	445	1064	13	0	0	13	0.00607193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.137	B	0.115	B	0.013	U	1.000	N	-0.505	N	-2.2	D	-0.790	T	0.276	T	0.316	-1.517	0.016	0.887	-0.157	0.401	8.398	0.210	.	.	0.0123802	0.0649	0.25	0	0.0714	.	0.0814	0.0833	0.0609	0.0016817	260	154602	rs560855336	0.0036	0.0038	0.0033	0.0039	0.0616	0.0035	0.0034	0.0587	0.0575	0.0087	0.0013	0.0125	0.0616	0.0187	0.0106	0.0010	0.0058	0.0160	0.0066	0.0066	0.0056	0.0075	0.0328	0.0062	0.0061	0.0288	0.0272	0.0075	0	0.0009	0.0144	0.0328	0.0195	0.0068	0.0019	0.0068	0.0234	1.0	0.00964	T	0.919	0.02882	T	0.113	0.27402	B	0.07	0.31843	B	0.013284	0.28888	U	0.325525	0.999878	0.19925	N	0.76	0.19266	N	-2.2	0.86888	D	0.42	0.04694	N	0.126	0.11912	-0.7901	0.55724	T	0.276	0.64824	T	10	0.0015328825	0.00017	T	.	.	.	0.210	0.50028	.	.	0.0482279557977	0.04254	0.44931725001365397	0.44849	.	.	0.883661985397	0.94449	D	0.030216	0.21469	T	-0.345356	0.05026	T	-0.25392	0.49430	T	0.00379766356223546	0.00040	T	0.60064	0.22426	T	0.027182626	0.01873	0.04974611	0.07664	0.027182626	0.01873	0.04974611	0.07663	-3.47	0.18759	T	.	.	0.073	0.11124	B	.;.	.;.	0.973571	0.13505	10.03	0.50105670579270611	0.04326	0.04329	0.09888	N	AEFDBHCIJ	0.049719	0.08618	N	-1.40566180013837	0.02588	0.1145123	-1.38904731688883	0.03367	0.1569527	0.999999998007807	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.519653	0.09787	0	0.603991	0.37454	0	.	.	3.93	0.887	0.18335	1.020000	0.29629	2.861000	0.35203	-0.472000	0.05088	0.001000	0.13787	1.000000	0.68203	0.169000	0.20946	0.3095:0.5406:0.1499:0.0	8.398	0.31729	132	0.94697	.;CNNM, transmembrane domain	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.04762	93.11	18	chr2	96816944	.	C	G	93.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.67;DP=442;ExcessHet=0.1072;FS=1.830;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=-2.890e-01;SOR=1.265	GT:AD:DP:GQ:PL	0/1:16,3:19:33:33,0,375	19	0	2	0
chr2	96840423	96840423	C	T	exonic	ANKRD23	.	nonsynonymous SNV	ANKRD23:NM_144994:exon5:c.G518A:p.R173Q,	.	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.998	D	0.865	P	0.003	N	0.939	D	1.58	L	-0.16	T	-0.458	T	0.326	T	0.247	1.453	10.80	4.1	1.222	-0.562	9.729	0.095	.	.	0.00239617	0.0017	0	8.986e-05	0	0	1.551e-05	0	0.0126	0.0013907	215	154602	rs554610108	0.0008	0.0008	0.0005	0.0012	0.0131	0.0008	0.0008	0.0125	0.0122	0	8.947e-05	0	0	0	0.0003	8.094e-06	0.0009	0.0131	0.0005	0.0005	0.0002	0.0007	0.0147	0.0004	0.0004	0.0119	0.0109	0	0	0	0	0	0	0	1.47e-05	0	0.0147	0.42	0.16738	T	0.425	0.13912	T	0.084	0.73220	B	0.013	0.61524	B	0.002789	0.35935	N	0.000000	0.997687	0.22554	N	0.46	0.12951	N	-0.26	0.67187	T	-1.6	0.38540	N	0.263	0.35194	-0.4577	0.70145	T	0.326	0.69418	T	10	0.011172354	0.00245	T	.	.	.	0.095	0.27398	0.463	0.53242	0.478451964739	0.47474	0.35103474038143506	0.35017	0.184002297361	0.20694	0.328371763229	0.14688	T	0.021856	0.16951	T	-0.462034	0.00955	T	-0.425425	0.30456	T	0.0677572548796233	0.08333	T	0.586041	0.21384	T	0.2189779	0.44419	0.0884062	0.20612	0.2189779	0.44418	0.0884062	0.20612	-4.845	0.35543	T	.	.	0.113	0.25978	B	.;.;.	.;.;.	1.128304	0.15144	11.62	0.99110828737963608	0.52725	0.08987	0.14830	N	AEFBCI	0.042630	0.06638	N	-0.302577848632311	0.29050	1.607577	-0.350615464386239	0.26489	1.464	0.97696156989217	0.29775	0.634777	0.41761	0	0.519925	0.08708	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.97	4.1	0.47196	-0.297000	0.08312	-0.660000	0.07985	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.213000	0.22268	0.0:0.9032:0.0:0.0968	9.729	0.39516	121	0.95159	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1105.98	37	chr2	96840423	.	C	T	1105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=803;ExcessHet=0.0000;FS=3.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=0.774;SOR=1.145	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1120,0,1103	20	0	1	0
chr2	97118138	97118138	T	C	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon2:c.T272C:p.L91P	.	.	434	1075	12	1	0	14	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.991	D	0.306	N	1.000	D	0.805	L	-0.1	T	-0.694	T	0.240	T	0.561	2.284	13.60	1.4	0.893	4.302	4.956	0.356	.	8.5e-05	0.0109824	0.0200	0	0.0018	0.0012	0	0	0.0039	0.0588	0.0028047	73	26028	rs370308910	0.0035	0.0036	0.0019	0.0051	0.0575	0.0034	0.0034	0.0561	0.0555	0.0001	0.0002	0	0.0002	0	0.0014	5.245e-05	0.0044	0.0575	0.0019	0.0020	0.0011	0.0028	0.0602	0.0018	0.0017	0.0545	0.0523	4.815e-05	0	6.561e-05	0	0.0002	0	0	5.883e-05	0	0.0602	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.948	0.68536	D	0.305571	0.14523	N	0.554125	0.993027	0.41813	D	0.705	0.18577	N	-0.1	0.64264	T	-3.35	0.66436	D	0.681	0.75559	-0.6937	0.60735	T	0.240	0.60774	T	10	0.005808383	0.00130	T	.	.	.	0.356	0.67691	.	.	0.480123561213	0.47641	.	.	.	.	0.868635416031	0.92373	D	0.028298	0.20529	T	-0.336724	0.05618	T	-0.215478	0.53172	T	0.0650473898335353	0.07937	T	0.573543	0.20534	T	0.5517775	0.70054	0.51022047	0.71696	0.5517775	0.70055	0.51022047	0.71697	-10.445	0.76531	D	.	.	0.266	0.70767	B	.;.;.;.	.;.;.;.	2.858005	0.37752	20.6	0.98801269973494266	0.46461	0.60759	0.31288	D	AEFBI	0.274415	0.38960	N	-0.180928729133569	0.33929	1.930624	-0.381348690577065	0.25553	1.405975	2.15883818205734E-5	0.03498	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.4	1.4	0.21393	4.653000	0.61156	1.969000	0.29978	0.316000	0.19262	0.987000	0.36337	0.033000	0.21346	0.013000	0.09966	0.0:0.0:0.0:1.0	4.956	0.13390	224	0.91330	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;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	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2904.98	43	chr2	97118138	.	T	C	2904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.120e-01;DP=1166;ExcessHet=0.0000;FS=3.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.05;MQRankSum=-5.160e+00;QD=10.53;ReadPosRankSum=0.068;SOR=0.518	GT:AD:DP:GQ:PL	0/1:155,121:276:99:2919,0,4006	20	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12,	.	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8326.47	128	chr2	97185336	.	GC	G	8326.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-1.019e+00;DP=2996;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.34;MQRankSum=-5.879e+00;QD=3.14;ReadPosRankSum=0.218;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,21:188:99:0|1:97185336_GC_G:379,0,6949:97185336	3	0	18	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X,	.	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	3.980	20.4	-2.12	-0.664	0.022	1.483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	8253.51	130	chr2	97185340	.	C	G	8253.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-6.260e-01;DP=3017;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.09;MQRankSum=-5.804e+00;QD=3.07;ReadPosRankSum=0.809;SOR=0.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,21:192:99:0|1:97185336_GC_G:367,0,7117:97185336	3	0	18	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5,	.	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8208.47	129	chr2	97185341	.	A	AG	8208.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-5.080e-01;DP=3032;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.00;MQRankSum=-5.688e+00;QD=3.04;ReadPosRankSum=0.926;SOR=0.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,21:192:99:0|1:97185336_GC_G:367,0,7117:97185336	3	0	18	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8186.47	138	chr2	97185345	.	GTAAT	G	8186.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.550e-01;DP=3160;ExcessHet=30.0624;FS=4.006;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.27;MQRankSum=-5.168e+00;QD=2.89;ReadPosRankSum=1.92;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,21:199:99:0|1:97185336_GC_G:346,0,7363:97185336	3	0	18	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E,	.	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.996	D	0.981	D	.	.	1.000	N	1.04	L	2.27	T	-1.043	T	0.055	T	0.127	0.368	5.998	0.142	0.033	0.116	4.893	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	2721.84	153	chr2	97243982	.	A	G	2721.84	.	AC=10;AF=0.250;AN=40;BaseQRankSum=1.96;DP=2009;ExcessHet=6.5132;FS=12.145;InbreedingCoeff=-0.3324;MLEAC=10;MLEAF=0.250;MQ=38.40;MQRankSum=-3.421e+00;QD=1.82;ReadPosRankSum=0.177;SOR=1.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,12:169:31:0|1:97243981_C_T:31,0,6522:97243981	10	0	10	1
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V,	.	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.566	P	0.11	B	.	.	1.000	N	-0.695	N	2.35	T	-1.001	T	0.013	T	0.162	0.638	7.428	-0.226	0.036	-0.164	4.757	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	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	0.25	3278.89	148	chr2	97243989	.	C	T	3278.89	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.381;DP=2004;ExcessHet=6.5132;FS=9.348;InbreedingCoeff=-0.3333;MLEAC=10;MLEAF=0.250;MQ=38.06;MQRankSum=-3.253e+00;QD=2.26;ReadPosRankSum=0.655;SOR=1.076	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,13:166:85:0|1:97243981_C_T:85,0,6345:97243981	10	0	10	1
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V,	.	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	66907.47	297	chr2	97513220	.	G	A	66907.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-8.080e-01;DP=4067;ExcessHet=51.1880;FS=3.353;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=36.93;MQRankSum=-3.978e+00;QD=16.47;ReadPosRankSum=0.728;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,98:216:99:0|1:97513219_T_C:3760,0,4660:97513219	0	0	20	1
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E,	.	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	72691.47	317	chr2	97513227	.	T	C	72691.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.090e-01;DP=4346;ExcessHet=51.1880;FS=3.354;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.18;MQRankSum=-4.153e+00;QD=17.02;ReadPosRankSum=0.711;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,106:231:99:0|1:97513219_T_C:4039,0,4909:97513219	0	0	20	1
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q,	.	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	88962.47	372	chr2	97513244	.	G	T	88962.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.332e+00;DP=4960;ExcessHet=51.1880;FS=2.480;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.54;MQRankSum=-4.334e+00;QD=17.98;ReadPosRankSum=0.505;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,127:272:99:0|1:97513244_G_T:4896,0,5686:97513244	0	0	20	1
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A,	.	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	94248.47	391	chr2	97513253	.	A	G	94248.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.477e+00;DP=5204;ExcessHet=51.1880;FS=3.201;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.63;MQRankSum=-4.517e+00;QD=18.31;ReadPosRankSum=-7.500e-02;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,134:286:99:0|1:97513244_G_T:5169,0,5917:97513244	0	0	20	1
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M,	.	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	94578.47	389	chr2	97513254	.	C	T	94578.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.107e+00;DP=5218;ExcessHet=51.1880;FS=3.233;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.64;MQRankSum=-4.596e+00;QD=18.37;ReadPosRankSum=8.000e-03;SOR=0.948	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,134:286:99:0|1:97513244_G_T:5169,0,5917:97513244	0	0	20	1
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K,	.	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	103442.47	407	chr2	97513268	.	C	T	103442.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-9.430e-01;DP=5451;ExcessHet=51.1880;FS=3.211;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.99;MQRankSum=-5.011e+00;QD=19.09;ReadPosRankSum=-6.100e-01;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:153,145:300:99:.:.:5619,0,6065	0	0	20	1
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X,	.	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	89883.47	410	chr2	97513270	.	A	C	89883.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.910e-01;DP=5493;ExcessHet=51.1880;FS=3.209;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.11;MQRankSum=-4.823e+00;QD=16.38;ReadPosRankSum=-7.770e-01;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,147:303:99:0|1:97513270_A_C:5683,0,6108:97513270	0	0	20	1
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C,	.	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	104689.47	413	chr2	97513271	.	T	C	104689.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.750e-01;DP=5492;ExcessHet=51.1880;FS=3.187;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.14;MQRankSum=-5.077e+00;QD=19.08;ReadPosRankSum=-6.500e-01;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,147:303:99:0|1:97513270_A_C:5683,0,6108:97513270	0	0	20	1
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K,	.	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	105794.47	411	chr2	97513281	.	C	T	105794.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.198e+00;DP=5582;ExcessHet=51.1880;FS=2.445;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.48;MQRankSum=-5.580e+00;QD=19.09;ReadPosRankSum=-8.110e-01;SOR=0.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,150:304:99:0|1:97513270_A_C:5759,0,5954:97513270	0	0	20	1
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M,	.	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	27196.47	224	chr2	97513354	.	T	C	27196.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=1.66;DP=3353;ExcessHet=51.1880;FS=1.191;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=39.44;MQRankSum=-3.474e+00;QD=8.44;ReadPosRankSum=0.663;SOR=0.624	GT:AD:DP:GQ:PL	0/1:106,62:168:99:1360,0,2593	0	0	20	1
chr2	97757380	97757380	C	T	exonic	TMEM131	.	nonsynonymous SNV	TMEM131:NM_015348:exon41:c.G5371A:p.V1791I,	.	.	433	1078	10	1	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.001	N	1.000	D	-0.895	N	1.81	T	-0.935	T	0.016	T	0.035	-0.800	0.675	0.049	-0.069	1.227	9.606	0.059	.	7.9e-05	0.00958466	0.0060	0.0002	0.0006	0.0001	0	4.601e-05	0.0036	0.0544	0.0053233	823	154602	rs375340921	0.0028	0.0028	0.0015	0.0041	0.0446	0.0027	0.0027	0.0434	0.0429	9.079e-05	0.0002	0	0.0001	0	0.0013	4.374e-05	0.0033	0.0446	0.0015	0.0015	0.0010	0.0020	0.0450	0.0013	0.0013	0.0401	0.0382	4.813e-05	0	0	0	0.0002	0	0	5.88e-05	0	0.0450	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001310	0.39449	N	0.282734	0.999998	0.08975	N	-1.04	0.01097	N	1.81	0.25182	T	-0.04	0.07590	N	0.06	0.03175	-0.9346	0.43455	T	0.016	0.06711	T	10	0.0021290183	0.00031	T	.	.	.	0.059	0.16972	.	.	0.043077524339	0.03247	0.09901463290842623	0.09832	0.155818610518	0.17585	0.309757143259	0.11871	T	0.009482	0.08629	T	-0.720329	0.00027	T	-0.773899	0.02642	T	0.00099974737433619	0.00010	T	0.727127	0.34152	T	0.01610997	0.00176	0.027419768	0.00894	0.01610997	0.00176	0.027419768	0.00894	-3.553	0.17182	T	.	.	0.056	0.00452	B	.	.	-0.345232	0.02425	0.274	0.61132336242171148	0.06633	0.07286	0.13308	N	AEFBI	0.039924	0.05867	N	-1.17805842362029	0.05332	0.2428373	-1.00739577338861	0.09622	0.4797542	0.667410602116205	0.22337	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.48	0.049	0.13601	1.155000	0.31311	0.473000	0.18731	-0.192000	0.09343	0.849000	0.30428	0.192000	0.23504	0.629000	0.32131	0.0:0.2848:0.0:0.7152	9.606	0.38799	456	0.79013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	767.98	32	chr2	97757380	.	C	T	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.731;DP=732;ExcessHet=0.0000;FS=1.200;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=0.098;SOR=0.993	GT:AD:DP:GQ:PL	0/1:21,29:50:99:782,0,516	20	0	1	0
chr2	98822837	98822837	A	G	exonic	CRACDL	.	nonsynonymous SNV	CRACDL:NM_207362:exon7:c.T1436C:p.I479T,	.	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.072	B	0.011	B	0.889	N	1.000	N	-0.345	N	0.99	T	-1.014	T	0.037	T	0.059	-0.267	2.720	-0.93	-0.366	0.191	.	0.007	0.106193787323	.	.	0.0003	0	0	0	0	2.551e-05	0	0.0033	0.0001423	22	154602	rs765486199	7.835e-05	9.167e-05	5.503e-05	0.0001	0.0014	6.553e-05	6.113e-05	0.0011	0.0011	0	0	0	3.192e-05	0	0.0002	6.748e-06	9.504e-05	0.0014	5.298e-05	5.267e-05	1.294e-05	9.497e-05	0.0015	2.575e-05	1.843e-05	0.0007	0.0005	2.442e-05	0	0	0	0	0	0	0	0	0.0015	0.303	0.14352	T	0.24	0.24406	T	0.072	0.23997	B	0.011	0.15521	B	0.889171	0.08700	N	0.936587	1	0.08975	N	0	0.06538	N	0.99	0.41750	T	0.08	0.06026	N	0.013	0.00142	-1.0142	0.25593	T	0.037	0.15986	T	9	0.0056156516	0.00124	T	0.106194	0.78168	D	0.007	0.00512	0.218	0.13932	0.0138822411134	0.00435	0.0398142639989382	0.03927	.	.	0.572044312954	0.48967	T	6.33E-4	0.00271	T	-0.677153	0.00050	T	-0.752244	0.03399	T	0.0282918018915648	0.01731	T	0.256474	0.04006	T	0.041550398	0.06139	0.08643682	0.20025	0.041550398	0.06138	0.08643682	0.20024	-0.08	0.00378	T	.	.	0.051	0.00191	B	.	.	0.237828	0.06184	2.633	0.20538863525775899	0.00743	0.00473	0.02263	N	AEFDBHCI	0.023515	0.01322	N	-1.57058448584842	0.01418	0.06183288	-1.64208959855669	0.01417	0.06407646	0.999994479128464	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.606814	0.37721	0	0.492483	0.08430	1	.	.	0.465	-0.93	0.09910	0.017000	0.13294	-0.416000	0.09315	-1.182000	0.01385	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	561	0.71236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	850.98	37	chr2	98822837	.	A	G	850.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=-1.211e+00;SOR=0.749	GT:AD:DP:GQ:PL	0/1:26,35:61:99:865,0,494	20	0	1	0
chr2	99390613	99390613	G	A	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656A:p.D886N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.793	P	0.56	P	.	.	1.000	D	3.395	M	-0.73	T	0.213	D	0.544	D	0.374	6.021	37	5.53	2.746	9.700	19.811	0.694	0.142793453651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.061	0.45530	T	0.793	0.44725	P	0.56	0.49558	P	.	.	.	.	1	0.81001	D	3.315	0.90654	M	-0.73	0.73100	T	-3.97	0.73684	D	0.63	0.64393	0.213	0.86132	D	0.544	0.83208	D	8	0.9126357	0.90628	D	0.142793	0.82515	D	0.694	0.88913	0.864	0.95995	0.614425270908	0.61131	0.5763173653873808	0.57560	1.7600581582	0.91115	0.812806487083	0.83922	D	0.653892	0.89531	D	0.0869895	0.62849	D	-0.112822	0.62385	T	0.973848506784709	0.70263	D	0.962504	0.86259	D	0.34774193	0.56891	0.34795704	0.60442	0.34774193	0.56891	0.34795704	0.60441	-8.071	0.61553	D	.	.	0.280	0.51332	B	.;.	.;.	5.402828	0.90465	31	0.99929077074018369	0.99279	0.99272	0.93765	D	AEFBI	0.905520	0.85714	D	0.797561309752087	0.85951	8.732649	0.800243538308844	0.89809	10.13081	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05882	264.87	54	chr2	99390613	.	G	A	264.87	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-2.288e+00;DP=1805;ExcessHet=0.1072;FS=80.190;InbreedingCoeff=-0.1183;MLEAC=2;MLEAF=0.059;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=0.616;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,17:109:99:0|1:99390613_G_A:162,0,3519:99390613	15	0	2	4
chr2	104855597	104855597	T	0	exonic	POU3F3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	4762.41	11	chr2	104855597	.	T	C,*	4762.41	.	AC=25,1;AF=0.658,0.026;AN=38;BaseQRankSum=-6.230e-01;DP=340;ExcessHet=0.0665;FS=7.060;InbreedingCoeff=0.2714;MLEAC=26,1;MLEAF=0.684,0.026;MQ=60.00;MQRankSum=0.00;QD=16.71;ReadPosRankSum=0.298;SOR=0.767	GT:AD:DP:GQ:PL	1/1:0,9,0:9:27:234,27,0,234,27,234	3	9	6	2
chr2	106436164	106436164	G	A	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon12:c.C1717T:p.P573S,	.	.	141	1372	9	0	0	9	0.00326916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.992	D	.	.	0.638	D	2.075	M	0.43	T	-0.337	T	0.286	T	0.366	2.470	14.22	2.52	1.430	8.115	10.792	0.388	0.0976957232948	.	0.000798722	0.0044	0.0014	0.0014	0	0.0015	0.0068	0.0050	0.0027	0.0013063	34	26028	rs201304359	0.0063	0.0063	0.0065	0.0061	0.0076	0.0062	0.0062	0.0075	0.0074	0.0010	0.0014	0.0006	0	0.0013	0.0015	0.0076	0.0050	0.0030	0.0036	0.0036	0.0041	0.0032	0.0063	0.0034	0.0033	0.0058	0.0056	0.0011	0.0121	0.0021	0	0	0.0010	0.0034	0.0063	0.0043	0.0023	0.076	0.34269	T	0.096	0.39340	T	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.638051	0.32850	D	2.645	0.77386	M	0.43	0.56772	T	-4.7	0.79829	D	0.854	0.85027	-0.3366	0.73942	T	0.286	0.65773	T	9	0.026748925	0.00834	T	0.097696	0.76817	D	0.388	0.70440	.	.	0.21737058555	0.21362	0.06601562632331034	0.06540	.	.	0.659470915794	0.61333	T	0.099796	0.40495	T	-0.327255	0.06322	T	-0.239687	0.50830	T	0.0814774497545075	0.10176	T	0.968103	0.88413	D	0.25900188	0.48951	0.31493145	0.57482	0.25900188	0.48951	0.31493145	0.57482	-9.534	0.71070	D	.	.	0.638	0.70450	P	.;.	.;.	4.231369	0.64084	24.7	0.9981977326991035	0.90238	0.96046	0.67288	D	AEFI	0.699727	0.65698	D	0.447869363654157	0.64080	4.654958	0.322483882324024	0.56862	3.850437	0.00207827672419295	0.09135	0.693126	0.56070	0	0.670034	0.63936	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	2.52	2.52	0.29514	8.268000	0.89807	11.823000	0.97298	0.322000	0.19397	1.000000	0.71638	1.000000	0.68203	0.700000	0.34141	0.0:0.0:1.0:0.0	10.792	0.45642	904	0.23766	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3394.11	33	chr2	106436164	.	G	A	3394.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.92;DP=988;ExcessHet=0.1072;FS=4.281;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=41.52;MQRankSum=-2.533e+00;QD=10.01;ReadPosRankSum=0.929;SOR=0.508	GT:AD:DP:GQ:PL	0/1:85,82:167:99:1879,0,2054	19	0	2	0
chr2	106468264	106468264	C	A	exonic	RGPD3	.	stopgain	RGPD3:NM_001144013:exon1:c.G25T:p.E9X,	.	.	6	1506	10	0	0	10	0.00330907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	3.425	17.58	1.8	0.984	3.375	7.025	.	.	0.0046	0.000998403	0.0049	0.0013	0.0009	0	0.0020	0.0073	0.0062	0.0030	0.0032729	506	154602	rs200527401	0.0063	0.0063	0.0064	0.0061	0.0076	0.0062	0.0061	0.0074	0.0074	0.0010	0.0013	0.0006	0	0.0013	0.0017	0.0076	0.0049	0.0031	0.0036	0.0036	0.0040	0.0031	0.0062	0.0033	0.0032	0.0057	0.0055	0.0011	0.0121	0.0021	0	0	0.0010	0.0034	0.0062	0.0047	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.089	0.06720	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176547	0.71724	D	0.483989	0.94285	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.810635	0.96884	36	0.99508253724283346	0.68440	0.59362	0.30894	D	AEFDI	0.040822	0.06125	N	0.520984339305695	0.68330	5.202632	0.20812403011563	0.50297	3.223315	3.42504440729709E-5	0.03775	0.679555	0.55442	0	0.514364	0.08380	0	0.600882	0.32295	2	0.613276	0.41899	0	.	.	1.8	1.8	0.24069	3.158000	0.50422	7.168000	0.57719	0.265000	0.18437	1.000000	0.71638	1.000000	0.68203	0.232000	0.22788	0.0:1.0:0.0:0.0	7.025	0.24113	864	0.32732	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3317.11	34	chr2	106468264	.	C	A	3317.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.921;DP=998;ExcessHet=0.1072;FS=1.008;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=3.17;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,71:138:99:0|1:106468264_C_A:1639,0,1547:106468264	19	0	2	0
chr2	106813156	106813156	A	G	exonic	ST6GAL2	.	nonsynonymous SNV	ST6GAL2:NM_001142352:exon6:c.T1387C:p.W463R,	.	.	477	1038	7	0	0	7	0.00336054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	1.54	T	-1.007	T	0.055	T	0.076	-1.159	0.096	.	0.103	0.780	.	0.042	.	0.0044	0.000798722	0.0067	0.0008	0	0	0.0010	0.0081	0	0.0151	0.0009444	146	154602	rs200605446	0.0059	0.0051	0.0061	0.0058	0.0068	0.0058	0.0058	0.0067	0.0066	0.0008	0.0009	0	0	0.0004	0.0017	0.0068	0.0039	0.0022	0.0033	0.0033	0.0036	0.0031	0.0056	0.0031	0.0030	0.0051	0.0049	0.0011	0.0122	0.0033	0	0	0.0001	0.0035	0.0056	0.0034	0.0019	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	5.5	0.00015	N	0.303	0.34228	-1.0067	0.27943	T	0.055	0.23148	T	4	0.005378127	0.00118	T	.	.	.	0.042	0.11227	0.414	0.45216	0.183819452728	0.17975	.	.	.	.	.	.	.	.	.	.	-0.629577	0.00096	T	-0.669159	0.07662	T	0.0427707527022904	0.04196	T	0.152985	0.01314	T	.	.	.	.	.	.	.	.	-2.445	0.05416	T	.	.	0.189	0.40683	B	.	.	0.298370	0.06740	3.255	0.38758578689221168	0.02633	0.05170	0.10987	N	AEFI	0.026739	0.02061	N	-0.671035362527751	0.16851	0.8621118	-0.907709831414495	0.11912	0.6097471	0.00438912569728279	0.10527	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.820000	0.26979	.	.	0.187000	0.17834	0.327000	0.25564	.	.	0.049000	0.15107	.	.	.	860	0.33753	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3373.12	82	chr2	106813156	.	A	G	3373.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.144;DP=1463;ExcessHet=0.1072;FS=4.132;InbreedingCoeff=-0.0504;MLEAC=2;MLEAF=0.048;MQ=59.91;MQRankSum=1.37;QD=11.96;ReadPosRankSum=0.325;SOR=0.483	GT:AD:DP:GQ:PL	0/1:62,82:144:99:1849,0,1611	19	0	2	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	55301.27	201	chr2	108259015	.	G	T,*	55301.27	.	AC=18,12;AF=0.429,0.286;AN=42;BaseQRankSum=2.01;DP=3832;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=18,12;MLEAF=0.429,0.286;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=-1.780e-01;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,208:208:99:.:.:9311,9311,9311,631,631,0	3	5	3	0
chr2	108294337	108294337	G	A	exonic	SULT1C2	.	nonsynonymous SNV	SULT1C2:NM_001056:exon3:c.G260A:p.R87Q	.	.	411	1101	8	2	0	12	0.00542005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.964	D	0.527	P	0.465	N	1.000	N	1.23	L	4.66	T	-0.734	T	0.300	T	0.335	3.811	19.35	1.95	0.207	0.164	2.929	0.096	.	0.0021	0.00119808	0.0050	0.0009	0.0005	0.0002	0.0174	0.0064	0.0121	0.0021	0.0044695	691	154602	rs149311077	0.0032	0.0032	0.0032	0.0032	0.0029	0.0031	0.0031	0.0028	0.0028	0.0005	0.0007	0.0046	0.0004	0.0164	0.0019	0.0029	0.0030	0.0023	0.0033	0.0033	0.0023	0.0043	0.0032	0.0030	0.0029	0.0029	0.0027	0.0006	0	0.0005	0.0052	0.0004	0.0207	0.0034	0.0032	0.0014	0.0013	0.628	0.14843	T	0.675	0.15406	T	0.927	0.55854	P	0.422	0.48453	B	0.465481	0.12341	N	0.757763	1	0.08975	N	2.225	0.63025	M	-1.61	0.82347	D	-0.57	0.19720	N	0.231	0.32812	-0.7343	0.58745	T	0.300	0.67111	T	10	0.0053875744	0.00118	T	.	.	.	0.096	0.27654	.	.	0.701138428994	0.69855	0.2990689431141426	0.29819	0.0347202142478	0.03653	0.39361551404	0.24178	T	0.054717	0.57414	T	-0.33367	0.05838	T	-0.249736	0.49844	T	0.0186508285668156	0.00579	T	0.0826917	0.00846	T	0.12951848	0.30247	0.06226374	0.12156	0.12951848	0.30247	0.06226374	0.12155	-3.683	0.19067	T	.	.	0.163	0.35992	B	.;.;.;.;.	.;.;.;.;.	1.908481	0.24238	16.32	0.99741973710258558	0.83555	0.03928	0.09319	N	AEFDBI	0.103275	0.20695	N	-0.367386910545751	0.26638	1.455343	-0.469435011218826	0.23001	1.252123	0.405242982524678	0.20165	0.713056	0.82018	0	0.573888	0.26702	0	0.608524	0.38960	0	0.542086	0.14980	0	.	.	4.81	1.95	0.25130	0.032000	0.13620	-0.351000	0.09744	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.957000	0.51019	0.0891:0.1575:0.4294:0.3239	2.929	0.05437	952	0.10565	Sulfotransferase domain;.;Sulfotransferase domain;.;Sulfotransferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1271.98	35	chr2	108294337	.	G	A	1271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=818;ExcessHet=0.0000;FS=1.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-1.556e+00;SOR=0.932	GT:AD:DP:GQ:PL	0/1:63,47:110:99:1286,0,1621	20	0	1	0
chr2	108659609	108659609	A	G	exonic	LIMS1	.	startloss	LIMS1:NM_001193482:exon2:c.A13G:p.M5V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.002	B	0.000	D	1.000	D	.	.	2.45	T	-1.014	T	0.100	T	0.917	3.191	16.68	4.63	1.938	9.135	14.202	0.376	0.0536504545754	.	0.000599042	0.0005	0	0	0	0	0	0	0.0032	0.0001153	3	26028	rs558476425	0.0002	0.0002	8.044e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0.0001	4.476e-05	0	0	0	0	1.799e-06	0.0002	0.0024	9.853e-05	0.0001	5.141e-05	0.0001	0.0019	6.005e-05	4.878e-05	0.0010	0.0007	9.618e-05	0	0	0	0	0	0	1.471e-05	0.0005	0.0019	0.034	0.45756	D	0.142	0.65728	T	0.0	0.02946	B	0.001	0.04355	B	0.000134	0.49741	D	0.134314	1	0.81001	D	.	.	.	1.56	0.30133	T	-0.58	0.74051	N	0.816	0.89353	-1.0143	0.25561	T	0.100	0.37060	T	9	0.01193285	0.00520	T	0.05365	0.65554	D	0.376	0.69443	.	.	0.187945064343	0.18414	0.1640348750896942	0.16323	.	.	0.674319148064	0.63454	T	0.020	0.46200	T	-0.085345	0.38842	T	0.100328	0.76931	D	0.0812846505000877	0.10151	T	0.951205	0.81406	D	0.45830756	0.64565	0.28766468	0.54779	0.45830756	0.64566	0.28766468	0.54779	-3.958	0.67103	T	.	.	0.119	0.57349	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.803750	0.54822	23.5	0.98322503200520517	0.40251	0.98303	0.81433	D	AEFBI	0.934838	0.92880	D	0.103476219614933	0.46624	2.899994	0.256272476671035	0.53005	3.471917	0.999999999639382	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.63	4.63	0.57175	9.321000	0.95528	11.195000	0.88811	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.202	0.65249	867	0.32089	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	528.98	34	chr2	108659609	.	A	G	528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.000e+00;DP=749;ExcessHet=0.0000;FS=2.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.61;MQRankSum=-4.464e+00;QD=10.80;ReadPosRankSum=-7.800e-01;SOR=0.363	GT:AD:DP:GQ:PL	0/1:25,24:49:99:543,0,678	20	0	1	0
chr2	110995957	110995957	C	T	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001142807:exon14:c.C1234T:p.R412C	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	N	1.000	D	2.71	M	0.67	T	-0.580	T	0.228	T	0.742	3.051	16.18	2.9	0.699	0.700	9.093	0.244	.	0.0012	0.000798722	0.0027	0.0002	0.0002	0	0.0112	0.0033	0.0033	0.0020	0.0023544	364	154602	rs150734728	0.0018	0.0018	0.0018	0.0018	0.0025	0.0018	0.0018	0.0022	0.0021	0.0003	0.0003	0	0	0.0090	0.0009	0.0017	0.0017	0.0025	0.0016	0.0016	0.0012	0.0020	0.0017	0.0015	0.0014	0.0015	0.0014	0.0003	0	0	0	0	0.0095	0	0.0017	0.0010	0.0015	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000055	0.53742	N	0.071820	0.998836	0.45528	D	2.605	0.76211	M	0.67	0.52187	T	-6.71	0.93927	D	0.409	0.51851	-0.5804	0.65601	T	0.228	0.59258	T	10	0.008451611	0.00192	T	.	.	.	0.244	0.55061	.	.	0.629339664297	0.62631	0.5729268678473419	0.57220	0.289842988447	0.31388	0.292840003967	0.09338	T	0.234449	0.60148	T	-0.223019	0.17583	T	-0.0980549	0.63548	T	0.101442337186377	0.12515	T	0.871313	0.58047	D	0.69624573	0.77852	0.47725207	0.69715	0.69624573	0.77853	0.47725207	0.69715	-11.385	0.81727	D	.	.	0.363	0.57417	A	.;.;.;.	.;.;.;.	3.798243	0.54714	23.5	0.99885201148264413	0.96049	0.66090	0.32958	D	AEFBI	0.172519	0.29955	N	-0.0281759930243841	0.40581	2.412513	-0.0559509862927661	0.37233	2.177329	0.998464692936689	0.37014	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.71	2.9	0.32809	0.709000	0.25407	-0.271000	0.10347	0.599000	0.40250	0.995000	0.38783	0.000000	0.08366	0.964000	0.52637	0.0:0.8302:0.0:0.1698	9.093	0.35784	.	.	Acyl-CoA oxidase, C-terminal;.;Acyl-CoA oxidase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	982.98	38	chr2	110995957	.	C	T	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.543e+00;DP=873;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.10;ReadPosRankSum=-1.050e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/1:61,47:108:99:997,0,1509	20	0	1	0
chr2	130120179	130120179	T	0	exonic	POTEF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	88519.64	228	chr2	130120179	.	T	C,*	88519.64	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=-4.490e-01;DP=4771;ExcessHet=0.1361;FS=7.097;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=44.81;MQRankSum=-1.564e+01;QD=20.24;ReadPosRankSum=1.33;SOR=1.210	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,236,0:236:99:.:.:7281,708,0,7281,708,7281	4	10	6	0
chr2	140700613	140700613	C	A	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon41:c.G6436T:p.V2146F,	.	.	441	1053	27	1	0	29	0.0135831	.	.	719267	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.077	B	0.034	B	0.002	U	1.000	D	1.455	L	-3.75	D	0.090	D	0.656	D	0.313	2.618	14.72	1.62	0.426	0.111	7.738	0.294	.	0.0017	0.00339457	0.0035	9.731e-05	0.0020	0	0.0005	0.0030	0.0055	0.0114	0.0031112	481	154602	rs145744070	0.0029	0.0029	0.0024	0.0033	0.0137	0.0028	0.0028	0.0130	0.0128	0.0004	0.0018	0.0101	5.042e-05	0.0006	0.0127	0.0021	0.0033	0.0137	0.0021	0.0021	0.0019	0.0023	0.0106	0.0019	0.0018	0.0083	0.0074	0.0003	0	0.0024	0.0092	0	0.0004	0.0136	0.0025	0.0043	0.0106	0.033	0.44358	D	0.015	0.61642	D	0.077	0.24313	B	0.034	0.22546	B	0.001916	0.37691	U	0.177257	0.999982	0.54805	D	0.75	0.19020	N	-3.75	0.95528	D	-3.02	0.62630	D	0.322	0.36254	0.090	0.83987	D	0.656	0.88050	D	10	0.01934126	0.00431	T	.	.	.	0.294	0.61388	.	.	0.289027227714	0.28505	0.6134016044301749	0.61272	0.250177817609	0.27598	0.353197097778	0.18392	T	0.565857	0.85545	D	-0.264991	0.12321	T	-0.142386	0.59910	T	0.029764845525991	0.01953	T	0.963604	0.86445	D	0.1786296	0.38893	0.16508277	0.38209	0.1786296	0.38893	0.16508277	0.38208	-6.738	0.52096	T	.	.	0.113	0.22391	B	.	.	1.773667	0.22555	15.67	0.98923734901163618	0.48602	0.76164	0.37334	D	AEFDI	0.259673	0.37797	N	-0.467575922367074	0.23148	1.241068	-0.372939358601287	0.25807	1.421501	1.72389479226269E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	4.47	1.62	0.22817	0.139000	0.15858	.	.	-0.249000	0.07183	0.968000	0.34134	0.756000	0.26587	0.958000	0.51230	0.0:0.5814:0.0:0.4186	7.738	0.27988	945	0.12563	EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1177.98	40	chr2	140700613	.	C	A	1177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.950e-01;DP=856;ExcessHet=0.0000;FS=1.862;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=0.516;SOR=0.922	GT:AD:DP:GQ:PL	0/1:39,45:84:99:1192,0,1014	20	0	1	0
chr2	151379533	151379533	A	-	exonic	TNFAIP6	.	nonframeshift deletion	TNFAIP6:NM_007115:exon6:c.834delA:p.X278X,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	1/2:2,17,3,0:22:14:437,27,14,343,0,401,434,75,403,485	1	6	10	0
chr2	151379533	151379533	-	A	exonic	TNFAIP6	.	nonframeshift insertion	TNFAIP6:NM_007115:exon6:c.834dupA:p.X278delinsX,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	1/2:2,17,3,0:22:14:437,27,14,343,0,401,434,75,403,485	1	6	10	0
chr2	157556189	157556189	T	G	exonic	ACVR1C	.	nonsynonymous SNV	ACVR1C:NM_001111031:exon3:c.A298C:p.N100H	.	.	422	1093	7	0	0	7	0.00319197	.	.	707784	ACVR1C-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.52	T	0.003	B	0.014	B	0.000	D	1.000	D	1.735	L	-2.24	D	-0.431	T	0.339	T	0.063	1.627	11.40	5.73	2.189	2.177	10.873	0.250	.	0.0080	0.00359425	0.0060	0.0025	0.0028	0	0.0011	0.0095	0.0033	0.0020	0.0064682	1000	154602	rs55920843	0.0093	0.0093	0.0094	0.0092	0.0113	0.0091	0.0091	0.0111	0.0111	0.0013	0.0032	0.0028	0	0.0017	0.0019	0.0113	0.0077	0.0019	0.0060	0.0060	0.0067	0.0053	0.0106	0.0057	0.0056	0.0100	0.0097	0.0023	0	0.0029	0.0020	0.0002	0.0018	0	0.0106	0.0061	0.0029	0.358	0.11994	T	0.193	0.30828	T	0.003	0.11197	B	0.014	0.16862	B	0.000021	0.62929	D	0.000000	1	0.81001	D	2.045	0.56016	M	-2.34	0.87989	D	-0.98	0.25986	N	0.289	0.34120	-0.4310	0.71034	T	0.339	0.70494	T	10	0.007727623	0.00175	T	.	.	.	0.250	0.55888	.	.	0.960646119416	0.96023	0.2505988816322576	0.24973	0.707201141776	0.61482	0.39721339941	0.24681	T	0.096937	0.39925	T	-0.443007	0.01242	T	-0.398094	0.33606	T	0.0259869484408974	0.01403	T	0.780122	0.41468	T	0.10902735	0.25777	0.08674821	0.20119	0.10902735	0.25777	0.08674821	0.20118	-4.235	0.27255	T	.	.	0.076	0.07318	B	.;.	.;.	2.970195	0.39582	21.0	0.97142525049805595	0.32551	0.56183	0.30052	D	AEFBI	0.328443	0.42911	N	-0.354461714358956	0.27109	1.484704	-0.251892596510282	0.29707	1.666488	0.00518808328304877	0.10855	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	2.187000	0.42234	7.886000	0.72778	0.665000	0.62972	0.423000	0.26353	1.000000	0.68203	0.898000	0.43474	0.1405:0.0:0.0:0.8595	10.873	0.46106	694	0.58444	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1282.98	33	chr2	157556189	.	T	G	1282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.845;DP=817;ExcessHet=0.0000;FS=2.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-5.660e-01;SOR=0.957	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1297,0,1325	20	0	1	0
chr2	171434679	171434679	C	T	exonic	DCAF17;METTL8	.	startloss	METTL8:NM_001321157:exon1:c.G3A:p.M1?	.	.	2	1518	2	0	0	2	0.000658328	.	.	2134296	Woodhouse-Sakati_syndrome	MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0030	0	0	0	0	0	0.0083	0.0050	0.0003687	57	154602	rs369447743	0.0002	0.0002	0.0001	0.0003	0.0039	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0	5.614e-06	0.0002	0.0039	0.0001	0.0001	5.143e-05	0.0002	0.0031	6.51e-05	5.321e-05	0.0019	0.0015	2.407e-05	0	0	0	0	0	0	0	0	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	546.98	41	chr2	171434679	.	C	T	546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.956e+00;DP=702;ExcessHet=0.0000;FS=2.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-1.850e-01;SOR=0.412	GT:AD:DP:GQ:PL	0/1:23,27:50:99:561,0,544	20	0	1	0
chr2	172472890	172472890	G	A	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_001316306:exon5:c.G418A:p.G140S,	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	.	9	1496	17	0	0	17	0.00564972	0.9830	0.826	3217787	ITGA6-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	1.000	D	.	.	0.61	T	-0.539	T	0.159	T	0.962	5.602	36	5.67	2.661	9.058	19.762	0.733	.	0.0024	0.013778	0.0105	0.0066	0.0101	0.0349	0	0.0005	0.0081	0.0433	0.0088744	1372	154602	rs74728869	0.0045	0.0044	0.0033	0.0056	0.0428	0.0044	0.0043	0.0417	0.0412	0.0073	0.0089	0.0054	0.0369	7.651e-05	0.0032	0.0001	0.0054	0.0428	0.0052	0.0052	0.0043	0.0062	0.0398	0.0049	0.0048	0.0352	0.0335	0.0074	0	0.0044	0.0058	0.0359	0	0.0034	0.0001	0.0052	0.0398	0.002	0.72154	D	0.011	0.64786	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.61	0.53516	T	-5.59	0.87760	D	0.817	0.91736	-0.5395	0.67182	T	0.159	0.49279	T	9	0.01030463	0.00230	T	0.148491	0.83040	D	0.733	0.90677	.	.	.	.	.	.	.	.	.	.	.	0.710074	0.91723	D	-0.0414729	0.45731	T	0.199067	0.83076	D	0.0785549693892789	0.09801	T	0.998091	0.99218	D	0.4176576	0.61936	0.44403628	0.67599	0.3356971	0.55934	0.44403628	0.67600	-12.317	0.86440	D	.	.	0.968	0.91905	P	.;.;.	.;.;.	3.455048	0.48129	22.6	0.99873236147270605	0.95076	0.99159	0.92098	D	AEFDBI	0.925838	0.90600	D	0.800498332863108	0.86136	8.789886	0.813540585513909	0.90720	10.53671	0.999999999999999	0.74766	0.562547	0.31514	0	0.610034	0.51514	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.67	5.67	0.87673	9.247000	0.94616	11.853000	0.98135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.762	0.96317	752	0.51611	.;.;.	.	.	.	.	.	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	0.02381	852.98	38	chr2	172472890	.	G	A	852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=818;ExcessHet=0.0000;FS=4.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.15;ReadPosRankSum=-9.080e-01;SOR=1.194	GT:AD:DP:GQ:PL	0/1:49,35:84:99:867,0,1222	20	0	1	0
chr2	178567083	178567083	T	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.A51854T:p.K17285I	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.955	D	.	.	1.000	D	2.965	M	0.53	T	-0.235	T	0.366	T	0.556	1.926	12.40	4.43	0.913	7.991	11.777	0.464	0.0686806455121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	.	.	.	0.994	0.66517	D	0.936	0.67150	D	.	.	.	.	0.99997	0.53665	D	3.065	0.87014	M	0.53	0.55090	T	-5.82	0.90530	D	0.543	0.74098	-0.2350	0.76756	T	0.366	0.72613	T	9	0.40579528	0.55883	T	0.068681	0.70519	D	0.464	0.76023	0.598	0.72862	0.464183351471	0.46044	.	.	0.587153137814	0.54305	0.686501502991	0.65203	T	.	.	.	0.0356129	0.56467	T	-0.186621	0.55905	T	0.62489163137571	0.37407	D	0.984502	0.94671	D	.	.	.	.	.	.	.	.	-16.018	0.97788	D	.	.	0.962	0.88323	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.139695	0.42460	21.5	0.87219796933158833	0.17072	0.97947	0.78343	D	AEFBI	0.951214	0.96556	D	0.727929369873573	0.81463	7.528079	0.663962439113116	0.79653	7.128372	0.988917024626491	0.31667	0.487112	0.14033	0	0.54472	0.11627	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.62	4.43	0.52967	7.969000	0.87564	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0698:0.0:0.9302	11.777	0.51259	438	0.80235	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2070.98	103	chr2	178567083	.	T	A	2070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.581e+00;DP=1892;ExcessHet=0.0000;FS=1.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.254;SOR=0.882	GT:AD:DP:GQ:PL	0/1:84,81:165:99:2085,0,2213	20	0	1	0
chr2	178731827	178731827	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon55:c.A13316G:p.Y4439C	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1509	12	0	0	12	0.0039604	.	.	55786	Brugada_syndrome|Cardiomyopathy|not_provided|Tibial_muscular_dystrophy|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|TTN-related_disorder|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|.|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.035	B	0.037	B	.	.	1.000	D	2.665	M	-0.39	T	-0.702	T	0.233	T	0.577	-0.994	0.269	3.8	0.195	5.182	10.476	0.421	0.0762178323699	0.0056	0.00199681	0.0058	0.0019	0.0019	0.0002	0.0023	0.0086	0.0044	0.0044	0.0058667	907	154602	rs72648942	0.0069	0.0069	0.0069	0.0070	0.0077	0.0068	0.0068	0.0076	0.0075	0.0013	0.0021	0.0096	5.039e-05	0.0040	0.0028	0.0077	0.0059	0.0064	0.0047	0.0047	0.0048	0.0046	0.0075	0.0044	0.0043	0.0069	0.0067	0.0013	0	0.0033	0.0081	0.0002	0.0050	0.0034	0.0075	0.0009	0.0035	0.106	0.29688	T	.	.	.	0.035	0.20614	B	0.037	0.23121	B	.	.	.	.	1	0.81001	D	.	.	.	-0.39	0.69158	T	-4.81	0.80767	D	0.364	0.42834	-0.7021	0.60338	T	0.233	0.59904	T	9	0.007775426	0.00177	T	0.076218	0.72479	D	0.421	0.73005	.	.	0.197625483188	0.19356	.	.	0.114869149133	0.12958	0.536030173302	0.43886	T	.	.	.	-0.326411	0.06387	T	-0.228669	0.51901	T	0.0519606309067609	0.05841	T	0.686231	0.40326	T	.	.	.	.	.	.	.	.	-6.539	0.50648	T	.	.	0.217	0.44682	B	.;.;.;.	.;.;.;.	2.318627	0.29686	18.20	0.35224080168223454	0.02199	0.97659	0.76220	D	AEBI	0.805865	0.73033	D	-0.679438391223224	0.16609	0.8477064	-0.580075148853372	0.20013	1.076351	0.995725753796857	0.34289	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	3.8	0.42887	5.161000	0.64780	.	.	-0.695000	0.04090	1.000000	0.71638	0.999000	0.35428	0.788000	0.37229	0.1046:0.0592:0.0:0.8362	10.476	0.43850	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1641.98	82	chr2	178731827	.	T	C	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=1070;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=2.00;SOR=0.691	GT:AD:DP:GQ:PL	0/1:57,61:118:99:1656,0,1460	20	0	1	0
chr2	178776633	178776633	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon27:c.C5093T:p.P1698L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1513	8	0	0	8	0.00263678	.	.	56323	Tibial_muscular_dystrophy|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|not_specified|Cardiomyopathy|Ventricular_tachycardia|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	2.335	M	-0.3	T	-0.291	T	0.201	T	0.596	1.763	11.85	5.05	2.363	9.699	18.391	0.554	.	0.0005	0.00698882	0.0063	0.0002	0.0425	0.0272	0.0003	0.0004	0.0022	0.0007	0.0056403	872	154602	rs75686037	0.0019	0.0020	0.0022	0.0017	0.0334	0.0019	0.0019	0.0320	0.0314	0.0004	0.0334	0.0008	0.0229	0.0002	0.0005	0.0002	0.0019	0.0008	0.0024	0.0024	0.0024	0.0024	0.0270	0.0022	0.0021	0.0234	0.0220	0.0002	0	0.0123	0.0012	0.0270	0.0003	0	0.0001	0.0028	0.0008	0.011	0.55530	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.97372	D	.	.	.	.	0.999991	0.81001	D	.	.	.	-0.3	0.67874	T	-6.62	0.98250	D	0.441	0.76019	-0.2907	0.75246	T	0.201	0.55780	T	9	0.009172559	0.00207	T	.	.	.	0.554	0.81601	.	.	0.757097561137	0.75489	.	.	0.469182032742	0.46230	0.810908734798	0.83632	D	.	.	.	-0.271957	0.11539	T	-0.136964	0.60380	T	0.0674657651155075	0.08290	T	0.966703	0.93576	D	.	.	.	.	.	.	.	.	-9.719	0.72231	D	.	.	0.215	0.44384	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.857024	0.55911	23.7	0.94436474657354152	0.24855	0.98714	0.85918	D	AEFBI	0.946934	0.95694	D	0.843284351774168	0.88721	9.686551	0.796628790791983	0.89558	10.02461	0.999999999980187	0.74766	0.487112	0.14033	0	0.54472	0.11627	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.05	5.05	0.67566	9.832000	0.98328	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	18.391	0.90427	345	0.85689	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-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	1	0	0	0	0	1	0	0.02381	1451.98	36	chr2	178776633	.	G	A	1451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.417e+00;DP=862;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=2.14;SOR=0.698	GT:AD:DP:GQ:PL	0/1:69,59:128:99:1466,0,1885	20	0	1	0
chr2	181656875	181656875	C	G	exonic	CERKL	.	nonsynonymous SNV	CERKL:NM_001030311:exon1:c.G132C:p.E44D	Retinitis pigmentosa 26	.	.	.	.	.	.	.	.	.	.	177580	not_provided|Retinitis_pigmentosa	MedGen:C3661900|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	.	.	.	.	.	.	.	.	0.34	T	0.447	B	0.205	B	0.148	N	1.000	N	0	N	2.33	T	-1.046	T	0.041	T	0.112	1.813	12.02	2.6	0.498	1.008	6.722	0.003	0.0300753105656	.	.	0.0006	0	0	0	0	4.842e-05	0.0048	0.0039	0.0004657	72	154602	rs727503857	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0	0	0	0	1.9e-05	0.0002	3.704e-05	0.0003	0.0026	4.599e-05	4.596e-05	3.853e-05	5.379e-05	0.0014	2.109e-05	1.527e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.161	0.48642	T	0.715	0.05747	T	0.001	0.36006	B	0.006	0.37080	B	0.148145	0.18058	N	0.499369	0.999678	0.20721	N	0.55	0.14455	N	2.08	0.35775	T	-0.88	0.28084	N	0.178	0.19190	-1.0458	0.15592	T	0.041	0.17573	T	10	0.00588274	0.00132	T	0.030075	0.52463	D	0.003	0.00094	0.219	0.14078	0.548103985532	0.54466	0.3804357887923224	0.37958	0.0844159057736	0.09537	0.692180514336	0.66019	T	0.005728	0.05178	T	-0.58015	0.00192	T	-0.6098	0.12001	T	0.027881666029879	0.01671	T	0.59544	0.22079	T	0.06708676	0.14496	0.064091556	0.12796	0.073752195	0.16502	0.07078257	0.15081	-4.137	0.33161	T	.	.	0.119	0.36712	B	.;.;.;.;.	.;.;.;.;.	1.442833	0.18626	13.84	0.96577734048986363	0.30322	0.62715	0.31866	D	AEFDGBHCI	0.152404	0.27707	N	-0.945894875845484	0.09785	0.4646528	-0.879869415583135	0.12572	0.6474393	0.999999931675374	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.42	2.6	0.30173	1.122000	0.30909	0.481000	0.18806	-0.171000	0.11205	0.901000	0.31451	0.960000	0.29291	0.118000	0.19084	0.1747:0.7315:0.0:0.0938	6.722	0.22523	899	0.25060	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1897.98	37	chr2	181656875	.	C	G	1897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.289e+00;DP=896;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.74;ReadPosRankSum=1.48;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,51:107:99:0|1:181656851_G_A:1912,0,2045:181656851	20	0	1	0
chr2	185756269	185756269	G	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon9:c.G1069C:p.E357Q,	.	.	.	.	.	.	.	.	.	.	.	3190682	FSIP2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.34	T	0.246	B	0.055	B	0.344	N	1.000	N	0.345	N	0.9	T	-1.054	T	0.039	T	0.135	0.102	4.548	2.84	0.686	2.304	7.252	0.019	.	.	0.00139776	0.0030	0	0	0.0051	0.0111	0.0048	0.0127	0.0005	0.0003687	57	154602	rs181232065	0.0008	0.0007	0.0008	0.0008	0.0057	0.0008	0.0007	0.0051	0.0048	0.0003	3.823e-05	0.0085	0.0057	0.0040	0.0002	0.0004	0.0010	0.0003	0.0011	0.0011	0.0010	0.0012	0.0062	0.0010	0.0009	0.0045	0.0040	7.236e-05	0	0.0003	0.0078	0.0062	0.0043	0	0.0007	0.0019	0.0012	0.279	0.15561	T	0.555	0.09267	T	0.246	0.31102	B	0.055	0.25995	B	0.344257	0.13915	N	0.595915	1	0.08975	N	0.345	0.11182	N	0.9	0.45248	T	-0.27	0.11366	N	0.073	0.04668	-1.0539	0.13332	T	0.039	0.16634	T	10	0.003462553	0.00061	T	.	.	.	0.019	0.03383	.	.	0.149567049428	0.14543	0.07072985078010019	0.07009	.	.	0.376547992229	0.21766	T	0.002209	0.01614	T	-0.594928	0.00156	T	-0.626534	0.10678	T	0.00604818090802291	0.00067	T	0.372463	0.08834	T	0.048514478	0.08469	0.03764875	0.03462	0.048514478	0.08469	0.03764875	0.03462	-3.361	0.14537	T	.	.	0.115	0.22969	B	.	.	1.808964	0.22987	15.84	0.17004383082446373	0.00478	0.14984	0.18686	N	AEFI	0.057288	0.10659	N	-0.931206126854234	0.10118	0.481997	-0.926011202951997	0.11482	0.5851584	6.39194950545457E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.64	2.84	0.32241	2.656000	0.46380	4.072000	0.41672	-0.119000	0.14319	0.315000	0.25459	1.000000	0.68203	0.002000	0.04165	0.2025:0.0:0.7975:0.0	7.252	0.25331	751	0.51694	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	323.98	33	chr2	185756269	.	G	C	323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.869;DP=665;ExcessHet=0.0000;FS=1.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.90;ReadPosRankSum=-1.273e+00;SOR=0.929	GT:AD:DP:GQ:PL	0/1:26,15:41:99:338,0,625	20	0	1	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.482	17.82	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,12,12:47:48:.:.:69,0,278,48,226,327	0	0	8	4
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.361	17.33	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,12,12:47:48:.:.:69,0,278,48,226,327	0	0	8	4
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	1.000	D	-1.67	N	.	.	-0.977	T	0.034	T	0.646	1.588	11.27	5.02	1.896	6.225	14.399	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5227.32	96	chr2	197523648	.	T	C	5227.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-1.034e+00;DP=1714;ExcessHet=36.0830;FS=391.571;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=60.00;MQRankSum=0.00;QD=3.31;ReadPosRankSum=0.282;SOR=12.797	GT:AD:DP:GQ:PL	0/1:49,34:83:99:309,0,797	0	0	19	2
chr2	199819527	199819527	-	A	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441dupT:p.*148delinsLNLRSPL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/1:28,6,5,0:39:25:27,0,657,25,467,628,136,633,634,774	2	0	4	0
chr2	199819527	199819527	-	AA	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441_442insTT:p.*148delinsFKLEVPFMSHTLLMQEEL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/1:28,6,5,0:39:25:27,0,657,25,467,628,136,633,634,774	2	0	4	0
chr2	219386052	219386052	C	T	exonic	DNPEP	.	nonsynonymous SNV	DNPEP:NM_001319116:exon6:c.G530A:p.R177Q	.	.	.	.	.	.	.	.	.	.	.	3241094	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.836	P	0.000	D	1.000	D	2.49	M	.	.	-0.151	T	0.396	T	0.72	4.087	21.0	3.97	1.002	4.477	14.986	0.289	0.0531999850453	.	.	0.0002	0	0	0	0	0.0003	0	0	0.0001423	22	154602	rs762809116	7.867e-05	7.867e-05	7.895e-05	7.838e-05	0.0007	6.666e-05	6.201e-05	0.0002	0.0001	0	2.236e-05	0	0	7.489e-05	0.0007	8.993e-05	4.967e-05	3.478e-05	5.259e-05	5.253e-05	5.14e-05	5.383e-05	8.82e-05	2.558e-05	1.831e-05	3.762e-05	2.575e-05	2.415e-05	0	6.546e-05	0	0	0	0	8.82e-05	0	0	0.015	0.52492	D	0.086	0.40909	T	0.966	0.56202	D	0.3	0.41053	B	0.000005	0.62929	D	0.058496	1	0.81001	D	.	.	.	.	.	.	-2.66	0.60348	D	0.337	0.38129	-0.1507	0.78899	T	0.396	0.74844	T	9	0.43966845	0.58020	T	0.053	0.65376	D	0.289	0.60808	0.503	0.59615	0.642832020782	0.63988	0.6494971933667791	0.64885	0.257449108574	0.28308	0.436513721943	0.30100	T	0.157716	0.50578	T	-0.0180362	0.49132	T	0.0311506	0.72353	D	0.258131504058838	0.23233	T	0.961204	0.85427	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22500	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.578540	0.50435	22.9	0.9991676290492888	0.98449	0.95019	0.63143	D	AEFDBCI	0.825527	0.74520	D	0.376050405387955	0.60126	4.19832	0.323936939817596	0.56950	3.859265	0.999999999926667	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.87	3.97	0.45241	3.695000	0.54481	1.665000	0.27922	0.596000	0.33519	1.000000	0.71638	0.539000	0.25405	0.978000	0.57271	0.0:0.8564:0.1436:0.0	14.986	0.71003	86	0.96395	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1655.98	33	chr2	219386052	.	C	T	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.358;DP=800;ExcessHet=0.0000;FS=2.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.70;ReadPosRankSum=2.02;SOR=0.452	GT:AD:DP:GQ:PL	0/1:18,62:80:99:1670,0,295	20	0	1	0
chr2	224896307	224896307	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon4:c.G386A:p.R129Q	.	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.991	D	0.753	P	0.000	D	0.998	D	2.495	M	0.97	T	-0.620	T	0.236	T	0.692	5.207	33	5.23	2.612	6.774	19.201	0.150	.	.	0.00179712	0.0013	0	0	0	0	0	0.0039	0.0101	0.0010479	162	154602	rs555737439	0.0005	0.0006	0.0003	0.0008	0.0086	0.0005	0.0005	0.0080	0.0078	0	6.829e-05	0	0	0	0.0012	1.817e-05	0.0004	0.0086	0.0003	0.0003	0.0002	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	4.819e-05	0	0.0002	0	0	0	0	1.47e-05	0	0.0081	0.089	0.32610	T	0.04	0.55759	D	0.882	0.48483	P	0.48	0.47081	P	0.000000	0.84330	D	0.000000	0.998386	0.44847	D	2.395	0.69210	M	0.97	0.42502	T	-2.25	0.50337	N	0.46	0.49692	-0.6199	0.63993	T	0.236	0.60270	T	10	0.006584078	0.00149	T	.	.	.	0.150	0.39571	.	.	0.615590475704	0.61248	0.33974417218772685	0.33887	0.480971576196	0.47103	0.477582097054	0.35723	T	0.159596	0.50310	T	-0.289141	0.09722	T	-0.182134	0.56325	T	0.0812096572146218	0.10142	T	0.999654	0.99877	D	0.3183239	0.54498	0.24900152	0.50462	0.3183239	0.54498	0.24900152	0.50461	-2.483	0.06657	T	.	.	0.093	0.19639	B	.;.;.	.;.;.	4.626981	0.73532	26.0	0.99941825027994591	0.99824	0.98064	0.79293	D	AEFBI	0.749795	0.69112	D	0.679657539851928	0.78300	6.843719	0.686688713095577	0.81367	7.510121	0.999999999997269	0.74766	0.706298	0.61202	0	0.658105	0.61773	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.23	5.23	0.72570	6.851000	0.75222	5.953000	0.51684	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.201	0.93697	867	0.32089	.;Dedicator of cytokinesis C/D, N-terminal;Dedicator of cytokinesis C/D, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	655.98	33	chr2	224896307	.	C	T	655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.972;DP=734;ExcessHet=0.0000;FS=1.116;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=1.11;SOR=0.941	GT:AD:DP:GQ:PL	0/1:22,25:47:99:670,0,505	20	0	1	0
chr2	232847515	232847515	C	0	exonic	GIGYF2	.	.	.	.	.	20	155	23	3	25	54	0.0855457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2555.11	33	chr2	232847515	.	C	CCG,*	2555.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=2.00;DP=2129;ExcessHet=0.3300;FS=0.797;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=6.74;ReadPosRankSum=0.403;SOR=0.758	GT:AD:DP:GQ:PL	0/1:64,69,0:133:99:2569,0,2348,2764,2555,5319	18	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	43047.11	33	chr2	232847516	.	CACA	C,*	43047.11	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.081e+00;DP=2385;ExcessHet=2.1081;FS=4.230;InbreedingCoeff=-0.0572;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=0.139;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,60,0:134:99:.:.:2172,0,2919,2395,3100,5495	6	3	10	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	2757.23	33	chr2	232847517	.	A	*,AG	2757.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-8.110e-01;DP=2381;ExcessHet=1.0911;FS=4.374;InbreedingCoeff=0.0455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=-1.791e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,60,69:133:99:.:.:6201,2919,2767,2444,0,2194	6	4	10	0
chr2	240464925	240464925	G	A	exonic	GPC1	.	nonsynonymous SNV	GPC1:NM_002081:exon6:c.G1084A:p.G362S,	.	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.016	B	0.042	B	0.538	N	0.995	D	2.15	M	0.83	T	-0.988	T	0.098	T	0.421	1.145	9.665	4.16	2.027	2.072	12.279	0.124	.	.	0.00778754	0.0045	0	0	0.0483	0	0.0003	0	0.0064	0.0018693	289	154602	rs192798269	0.0012	0.0012	0.0011	0.0012	0.0242	0.0011	0.0011	0.0229	0.0224	3.155e-05	0.0002	0.0006	0.0242	0	0.0005	4.816e-05	0.0029	0.0063	0.0015	0.0015	0.0012	0.0018	0.0309	0.0013	0.0012	0.0270	0.0255	4.812e-05	0	0.0003	0.0003	0.0309	0	0	7.353e-05	0.0009	0.0099	0.444	0.09155	T	0.25	0.92824	T	0.016	0.17332	B	0.042	0.24114	B	0.537724	0.05295	N	1.248820	0.994991	0.42500	D	2.005	0.54552	M	0.83	0.47815	T	-3.05	0.62976	D	0.144	0.14480	-0.9876	0.33200	T	0.098	0.36625	T	10	0.00418213	0.00083	T	.	.	.	0.151	0.39764	.	.	0.792639443868	0.79071	0.5268665032889499	0.52610	0.18267640142	0.20537	0.458062052727	0.33045	T	0.127932	0.45526	T	-0.458234	0.01008	T	-0.401011	0.33266	T	0.0228339323741409	0.01004	T	0.780122	0.41468	T	0.23862527	0.46742	0.19241376	0.42753	0.23862527	0.46742	0.19241376	0.42752	-2.75	0.07733	T	.	.	0.084	0.17827	B	.;.;.	.;.;.	2.097490	0.26686	17.20	0.88760895743056256	0.18234	0.50538	0.28686	D	AEFDBCI	0.417390	0.48545	N	-0.342253769574433	0.27558	1.51292	-0.328655977400558	0.27178	1.506246	0.999895679669452	0.45129	0.706298	0.61202	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.16	4.16	0.48138	1.707000	0.37507	4.738000	0.44591	0.618000	0.50648	0.022000	0.19841	1.000000	0.68203	0.515000	0.29359	0.0:0.0:1.0:0.0	12.279	0.54069	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	592.98	35	chr2	240464925	.	G	A	592.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.95;DP=855;ExcessHet=0.0000;FS=1.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.22;ReadPosRankSum=-1.211e+00;SOR=0.983	GT:AD:DP:GQ:PL	0/1:38,20:58:99:607,0,1021	20	0	1	0
chr2	240587011	240587011	C	G	exonic	CAPN10	.	nonsynonymous SNV	CAPN10:NM_023083:exon1:c.C100G:p.L34V	.	.	0	1521	1	0	0	1	0.000328623	.	.	719750	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.5	T	0.997	D	0.942	D	0.009	N	0.986	D	1.335	L	2.39	T	-1.017	T	0.073	T	0.325	2.494	14.30	2.55	0.655	1.288	6.698	0.109	.	0.0041	0.00359425	0.0057	0.0031	0.0106	0	0.0625	0.0163	0	0	0.0031177	482	154602	rs138005500	0.0080	0.0078	0.0082	0.0078	0.0086	0.0079	0.0078	0.0084	0.0084	0.0011	0.0036	0.0075	3.535e-05	0.0226	0.0004	0.0086	0.0058	0.0003	0.0080	0.0080	0.0072	0.0089	0.0108	0.0076	0.0075	0.0102	0.0099	0.0017	0.0077	0.0037	0.0063	0	0.0292	0	0.0108	0.0071	0.0002	0.096	0.31088	T	0.112	0.38742	T	0.955	0.66517	P	0.843	0.64171	P	0.009053	0.30540	N	0.273086	0.985527	0.40296	D	1.28	0.32218	L	2.39	0.42502	T	-0.96	0.39314	N	0.15	0.25006	-1.0172	0.24625	T	0.073	0.29707	T	10	0.0049797	0.00107	T	.	.	.	0.109	0.30843	.	.	0.65796100957	0.65510	0.26430451745289957	0.26343	0.557580051263	0.52378	0.759727060795	0.75888	T	0.169147	0.51642	T	-0.465155	0.00912	T	-0.429909	0.29944	T	0.017963551763616	0.00521	T	0.880612	0.75551	D	0.10285304	0.24306	0.067142904	0.13849	0.10285304	0.24306	0.067142904	0.13849	-6.34	0.49039	T	.	.	0.121	0.29806	B	.;.;.;.;.	.;.;.;.;.	4.756547	0.76857	26.6	0.98797520337582034	0.46397	0.78333	0.38631	D	ALL	0.225982	0.34999	N	0.0812080271910238	0.45588	2.812732	0.0286574514644668	0.41052	2.459899	0.999999999145772	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	3.44	2.55	0.29757	2.152000	0.41897	5.705000	0.49397	0.599000	0.40250	0.950000	0.33075	1.000000	0.68203	0.942000	0.48361	0.0:0.8657:0.0:0.1343	6.698	0.22400	994	0.00715	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|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	0.02381	1044.98	43	chr2	240587011	.	C	G	1044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.288e+00;DP=816;ExcessHet=0.0000;FS=3.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=-4.380e-01;SOR=0.724	GT:AD:DP:GQ:PL	0/1:66,50:116:99:1059,0,1750	20	0	1	0
chr2	240757426	240757426	-	TCC	exonic	KIF1A	.	nonframeshift insertion	KIF1A:NM_001379632:exon26:c.2699_2700insGGA:p.E900_D901insE	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878988727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	45978.09	90	chr2	240757423	.	ATCC	A,ATCCTCC	45978.09	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=-5.170e-01;DP=2530;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=29.32;ReadPosRankSum=0.110;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,50,0:102:99:.:.:1844,0,1848,2022,2038,4172	5	7	8	0
chr2	240946223	240946223	G	C	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon15:c.G2333C:p.R778P,	.	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.8	T	-0.954	T	0.059	T	0.456	1.227	9.976	-3.08	-0.545	-0.332	11.621	0.114	.	.	0.000798722	0.0006	0	0	0.0021	0	0.0009	0	0.0005	0.0001229	19	154602	rs537774664	0.0005	0.0005	0.0005	0.0005	0.0053	0.0005	0.0005	0.0047	0.0045	6.361e-05	0	0.0006	0.0053	0.0047	0.0005	0.0002	0.0007	0.0004	0.0010	0.0010	0.0007	0.0013	0.0044	0.0009	0.0008	0.0030	0.0026	2.405e-05	0.0461	0	0.0006	0.0044	0.0052	0	0.0003	0.0005	0.0008	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.20660	-0.9537	0.40327	T	0.059	0.24649	T	4	0.004668057	0.00098	T	.	.	.	.	.	.	.	0.130388298395	0.12655	0.2822117922855381	0.28134	.	.	.	.	.	0.070894	0.34073	T	-0.426604	0.01554	T	-0.385844	0.35038	T	0.0856258563552096	0.10690	T	.	.	.	0.2196176	0.44497	0.29028696	0.55051	0.2196176	0.44497	0.29028696	0.55050	-12.186	0.85745	D	.	.	0.323	0.54747	B	.	.	1.385688	0.17977	13.48	0.96991026555515658	0.31900	0.03788	0.09111	N	AEFDBI	0.174622	0.30176	N	-0.772605206512046	0.14027	0.6954716	-0.924679436548314	0.11512	0.5869424	0.758219419661703	0.23468	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.93	-3.08	0.05022	-0.570000	0.05986	-2.654000	0.03503	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.202000	0.21954	0.3137:0.0:0.6863:0.0	11.621	0.50376	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	655.98	35	chr2	240946223	.	G	C	655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.633;DP=755;ExcessHet=0.0000;FS=1.022;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=-1.797e+00;SOR=0.963	GT:AD:DP:GQ:PL	0/1:34,28:62:99:670,0,835	20	0	1	0
chr2	241317537	241317537	T	-	exonic	SEPTIN2	.	frameshift deletion	SEPTIN2:NM_001349287:exon3:c.112delT:p.C43Vfs*23,	.	.	3	4	19	0	200	219	0.703704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	9867.71	78	chr2	241317535	.	ATT	A,AT	9867.71	.	AC=2,20;AF=0.048,0.476;AN=42;BaseQRankSum=0.729;DP=1727;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=1,20;MLEAF=0.024,0.476;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.074;SOR=0.692	GT:AD:DP:GQ:PL	0/2:29,8,30:76:99:603,433,1419,0,517,519	0	0	1	0
chr2	241682798	241682798	C	T	splicing	DTYMK	NM_001320905:exon3:c.356+1G>A	.	.	.	.	.	.	.	.	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-0.439	1.962	0.118	0.191	0.416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.727e-05	1.749e-05	0	6.362e-05	.	0	0	.	.	0	0	0	0	0	0	0	0.0008	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	206.34	20	chr2	241682798	.	C	T	206.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.09;DP=447;ExcessHet=0.0000;FS=4.545;InbreedingCoeff=-0.0257;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=9.38;ReadPosRankSum=-5.130e-01;SOR=1.911	GT:AD:DP:GQ:PL	0/1:14,8:22:99:220,0,345	19	0	1	1
chr3	10065420	10065420	C	T	exonic	FANCD2	.	nonsynonymous SNV	FANCD2:NM_001374253:exon23:c.C2084T:p.P695L	Fanconi anemia, complementation group D2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.96	D	0.000	D	1.000	D	2.47	M	0.62	T	-0.370	T	0.321	T	0.576	5.023	29.6	5.53	2.618	7.263	17.011	0.410	0.0789833593748	.	.	8.236e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs754740540	7.526e-06	7.525e-06	6.808e-06	8.252e-06	6.956e-05	4.04e-06	2.95e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	3.598e-06	1.656e-05	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.999	0.77913	D	0.96	0.70309	D	0.000010	0.62929	D	0.151447	0.999997	0.58761	D	2.67	0.78151	M	0.62	0.53302	T	-5.7	0.87380	D	0.754	0.75374	-0.3696	0.72974	T	0.321	0.69004	T	10	0.8571166	0.84913	D	0.078983	0.73129	D	0.410	0.72176	0.526	0.63115	0.862758784291	0.86142	0.7092208891279418	0.70864	0.621399424811	0.56427	0.39650696516	0.24583	T	0.472758	0.80490	T	0.0321961	0.56014	T	-0.191529	0.55446	T	0.990497887134552	0.80716	D	0.958704	0.84427	D	0.7460152	0.80638	0.6436452	0.79171	0.7460152	0.80639	0.6436452	0.79172	-7.74	0.59285	D	0.9642761957396472	0.98842	0.693	0.72667	P	.;.;.	.;.;.	4.956403	0.81914	27.7	0.999074355448615	0.97801	0.96214	0.68059	D	AEFDBCI	0.795580	0.72296	D	0.8375878450024	0.88389	9.560598	0.806581292524312	0.90248	10.32125	0.999999673369351	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.53	5.53	0.82530	7.399000	0.79180	7.718000	0.67175	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:1.0:0.0:0.0	17.011	0.86279	357	0.85079	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1783.98	35	chr3	10065420	.	C	T	1783.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-01;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=-3.170e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/1:59,72:131:99:1798,0,1440	20	0	1	0
chr3	10141956	10141970	GAGTCCGGCCCGGAA	-	exonic	VHL	.	nonframeshift deletion	VHL:NM_000551:exon1:c.109_123del:p.S43_E47del	Erythrocytosis, familial, 2, Autosomal recessive;Hemangioblastoma, cerebellar, somatic (3);Pheochromocytoma, Autosomal dominant;Renal cell carcinoma, somatic;von Hippel-Lindau syndrome, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	212278	not_provided|Hereditary_cancer-predisposing_syndrome|Chuvash_polycythemia|Von_Hippel-Lindau_syndrome	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0	0	0.0008	5.17e-05	8	154602	rs1376074402	7.673e-05	7.593e-05	5.795e-05	9.607e-05	0.0002	6.479e-05	6.018e-05	0.0001	0.0001	0	0	3.994e-05	0	0	0.0002	7.705e-05	6.93e-05	0.0002	3.939e-05	3.937e-05	3.854e-05	4.027e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.985e-05	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	883.94	36	chr3	10141955	.	GGAGTCCGGCCCGGAA	G	883.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=751;ExcessHet=0.0000;FS=6.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.22;ReadPosRankSum=-1.057e+00;SOR=1.973	GT:AD:DP:GQ:PL	0/1:23,23:46:99:898,0,874	20	0	1	0
chr3	13571581	13571581	C	T	exonic	FBLN2	.	nonsynonymous SNV	FBLN2:NM_001004019:exon2:c.C1226T:p.P409L	.	.	424	1055	43	0	0	43	0.0199721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.037	B	0.006	B	0.707	N	1.000	N	0.46	N	-1.17	T	-0.927	T	0.170	T	0.101	1.128	9.596	0.861	-0.128	0.645	5.851	0.107	.	0.0029	0.0107827	0.0092	0.0012	0.0020	0.0001	0.0002	0.0045	0.0036	0.0495	0.0082211	1271	154602	rs113265853	0.0067	0.0067	0.0055	0.0079	0.0456	0.0066	0.0065	0.0445	0.0440	0.0007	0.0017	0.0079	0.0001	0.0005	0.0151	0.0045	0.0078	0.0456	0.0044	0.0044	0.0040	0.0049	0.0370	0.0042	0.0040	0.0326	0.0309	0.0013	0	0.0029	0.0072	0	0.0006	0.0102	0.0052	0.0057	0.0370	0.142	0.25457	T	0.229	0.25210	T	0.037	0.20876	B	0.006	0.12133	B	0.707188	0.10044	N	0.862260	0.999978	0.18612	N	1.5	0.37844	L	-1.21	0.78645	T	-1.09	0.28290	N	0.134	0.13055	-0.9270	0.44573	T	0.170	0.51020	T	10	0.0025327504	0.00038	T	.	.	.	0.107	0.30369	.	.	0.256237801699	0.25221	0.42514303904641865	0.42431	0.126456553319	0.14255	0.256454885006	0.04477	T	0.227162	0.59237	T	-0.483817	0.00703	T	-0.43489	0.29382	T	0.00595067492918667	0.00065	T	0.684232	0.29249	T	0.03889599	0.05269	0.03206822	0.01886	0.03889599	0.05269	0.03206822	0.01886	-7.252	0.60064	T	.	.	0.074	0.06849	B	.;.;.	.;.;.	0.804273	0.11749	8.326	0.43754700355444892	0.03316	0.14055	0.18198	N	AEFDBI	0.085707	0.17376	N	-0.957163362943768	0.09532	0.4515708	-0.981177737210309	0.10209	0.5126888	0.998497507380997	0.37071	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.85	0.861	0.18186	0.731000	0.25726	-1.422000	0.05477	0.599000	0.40250	0.078000	0.22289	0.000000	0.08366	0.007000	0.07825	0.0:0.6287:0.1376:0.2337	5.851	0.17945	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1516.98	36	chr3	13571581	.	C	T	1516.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.460e-01;DP=935;ExcessHet=0.0000;FS=4.020;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-5.700e-01;SOR=0.437	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1531,0,1792	20	0	1	0
chr3	15766256	15766256	G	A	exonic	ANKRD28	.	nonsynonymous SNV	ANKRD28:NM_001349280:exon3:c.C71T:p.S24L	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.00259585	0.0051	0.0008	0.0020	0	0.0029	0.0073	0.0011	0.0048	0.0051422	795	154602	rs185386403	0.0060	0.0061	0.0059	0.0062	0.0069	0.0059	0.0059	0.0068	0.0067	0.0009	0.0025	0.0021	2.52e-05	0.0035	0.0040	0.0069	0.0043	0.0056	0.0041	0.0041	0.0043	0.0038	0.0071	0.0038	0.0037	0.0066	0.0064	0.0009	0	0.0022	0.0014	0	0.0026	0.0034	0.0071	0.0033	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	823.98	38	chr3	15766256	.	G	A	823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.460e-01;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-6.220e-01;SOR=0.746	GT:AD:DP:GQ:PL	0/1:39,38:77:99:838,0,896	20	0	1	0
chr3	30778217	30778218	TC	-	exonic	GADL1	.	frameshift deletion	GADL1:NM_207359:exon14:c.1353_1354del:p.E451Dfs*12,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0006	0	0	0	0	0	0	0.0045	0.0005369	83	154602	rs375804706	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	2.991e-05	0	0	2.521e-05	0	0.0003	5.402e-06	0.0005	0.0050	0.0002	0.0002	0.0001	0.0003	0.0058	0.0002	0.0001	0.0041	0.0036	2.407e-05	0	0.0001	0	0	0	0	0	0.0005	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	993.94	34	chr3	30778216	.	ATC	A	993.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.220;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-6.420e-01;SOR=0.637	GT:AD:DP:GQ:PL	0/1:47,29:76:99:1008,0,1771	20	0	1	0
chr3	38117238	38117238	C	T	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_001321153:exon31:c.C4345T:p.R1449C	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.39	M	2.71	T	-0.903	T	0.133	T	0.702	3.725	18.92	5.07	2.353	3.075	17.206	0.321	.	.	0.00219649	0.0006	0	0.0003	0	0	4.507e-05	0	0.0038	0.0005304	82	154602	rs551341227	0.0002	0.0002	0.0002	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0.0001	0	2.519e-05	0	0.0003	3.237e-05	0.0002	0.0032	0.0002	0.0002	0.0001	0.0002	0.0052	0.0001	0.0001	0.0036	0.0031	0	0	6.533e-05	0	0	0	0	2.94e-05	0	0.0052	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.76	0.80626	M	2.41	0.15492	T	-5.43	0.87380	D	0.758	0.76388	-0.9030	0.47673	T	0.133	0.44564	T	10	0.022967905	0.00588	T	.	.	.	0.321	0.64318	.	.	0.699609318542	0.69701	0.6281091794052637	0.62743	0.61369338527	0.55926	0.503478765488	0.39312	T	0.260259	0.63162	T	-0.291353	0.09501	T	-0.192441	0.55361	T	0.26602834740154	0.23576	T	0.90031	0.65351	D	0.5468871	0.69782	0.40607944	0.64991	0.5468871	0.69783	0.40607944	0.64991	-4.894	0.35667	T	.	.	0.482	0.63745	A	.;.	.;.	4.855435	0.79407	27.1	0.99929298880264061	0.99279	0.85254	0.44370	D	AEFDBCI	0.441777	0.49978	N	0.678263549955905	0.78207	6.825518	0.620820585703555	0.76453	6.493955	0.999996906498657	0.74766	0.679555	0.55442	0	0.550933	0.16991	0	0.600882	0.32295	2	0.584449	0.35598	0	.	.	5.07	5.07	0.68106	2.583000	0.45759	4.731000	0.44554	0.587000	0.30956	0.981000	0.35396	1.000000	0.68203	0.945000	0.48827	0.0:1.0:0.0:0.0	17.206	0.86800	553	0.71930	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1719.98	33	chr3	38117238	.	C	T	1719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.424;DP=842;ExcessHet=0.0000;FS=4.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-2.120e-01;SOR=1.088	GT:AD:DP:GQ:PL	0/1:65,69:134:99:1734,0,1541	20	0	1	0
chr3	39184680	39184680	G	A	exonic	XIRP1	.	nonsynonymous SNV	XIRP1:NM_001351377:exon2:c.C815T:p.T272I	.	.	426	1093	3	0	0	3	0.00137049	.	.	720428	not_provided|XIRP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.18	T	0.002	B	0.002	B	0.162	U	1.000	N	1.5	L	3.91	T	-1.027	T	0.033	T	0.063	1.460	10.82	0.452	-0.039	0.117	7.643	0.055	.	.	0.0105831	0.0056	0	0	0	0	2.997e-05	0.0022	0.0409	0.0049353	763	154602	rs367987838	0.0024	0.0024	0.0014	0.0034	0.0384	0.0023	0.0023	0.0373	0.0369	0.0002	0	0	7.557e-05	0	0.0009	2.428e-05	0.0029	0.0384	0.0014	0.0014	0.0006	0.0022	0.0428	0.0012	0.0012	0.0381	0.0362	4.811e-05	0	0	0	0	0	0	1.47e-05	0.0014	0.0428	0.007	0.59928	D	0.144	0.67890	T	0.002	0.09854	B	0.002	0.06944	B	0.162266	0.17626	U	0.562398	1	0.08975	N	1.95	0.52479	M	3.91	0.18083	T	-1.51	0.43906	N	0.037	0.01135	-1.0274	0.21299	T	0.033	0.14029	T	10	0.0019234419	0.00026	T	.	.	.	0.055	0.15663	0.328	0.31196	0.225215365344	0.22153	0.1671135550963803	0.16631	0.0729607557204	0.08176	0.301204442978	0.10581	T	0.132215	0.46217	T	-0.677721	0.00049	T	-0.716289	0.04977	T	0.0171126064956207	0.00457	T	0.40306	0.10319	T	0.069862105	0.15340	0.10463911	0.25137	0.07094698	0.15667	0.10463911	0.25136	-5.634	0.44478	T	.	.	0.140	0.35622	B	.;.	.;.	0.498979	0.08683	5.453	0.98687423878303482	0.44709	0.12249	0.17152	N	AEFBHCI	0.086322	0.17502	N	-0.764193074309983	0.14251	0.7083419	-0.786873862669531	0.14817	0.7761893	0.999953401891131	0.48110	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.37	0.452	0.15846	-0.055000	0.11763	-2.340000	0.03878	0.662000	0.56354	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.4888:0.0:0.5112:0.0	7.643	0.27470	455	0.79073	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2988.98	36	chr3	39184680	.	G	A	2988.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.102e+00;DP=1052;ExcessHet=0.0000;FS=0.478;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.045;SOR=0.635	GT:AD:DP:GQ:PL	0/1:121,113:234:99:3003,0,3265	20	0	1	0
chr3	39188811	39188811	-	G	exonic	XIRP1	.	frameshift insertion	XIRP1:NM_001198621:exon2:c.634dupC:p.Q212Pfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3770.94	39	chr3	39188811	.	T	TG	3770.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.123;DP=1189;ExcessHet=0.0000;FS=4.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=-3.720e-01;SOR=0.903	GT:AD:DP:GQ:PL	0/1:124,121:245:99:3785,0,3904	20	0	1	0
chr3	39389595	39389595	C	T	exonic	SLC25A38	.	nonsynonymous SNV	SLC25A38:NM_001354798:exon2:c.C170T:p.T57I	Anemia, sideroblastic, 2, pyridoxine-refractory, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.003	B	0.02	B	0.000	D	0.725	D	1.345	L	-1.19	T	-0.593	T	0.286	T	0.253	2.849	15.49	3.74	2.112	4.319	10.892	0.244	0.0283845753587	.	.	4.942e-05	0	0	0	0	2.997e-05	0.0011	0.0002	3.88e-05	6	154602	rs775205150	1.163e-05	1.163e-05	9.529e-06	1.375e-05	0.0002	7.08e-06	5.79e-06	8.885e-05	7.053e-05	0	0	0	0	0	0	2.698e-06	1.656e-05	0.0002	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.057	0.37966	T	0.121	0.35840	T	0.003	0.11197	B	0.02	0.19048	B	0.000033	0.55875	D	0.158228	0.724832	0.33656	D	1.005	0.25186	L	-1.19	0.78752	T	-2.32	0.51478	N	0.345	0.38643	-0.5932	0.65093	T	0.286	0.65812	T	10	0.31613728	0.49038	T	0.028385	0.51071	D	0.244	0.55061	0.541	0.65304	0.690602913374	0.68794	0.812531602802714	0.81209	0.286994345013	0.31096	0.671949386597	0.63115	T	0.171239	0.51928	T	-0.205459	0.20022	T	-0.273225	0.47493	T	0.137294475290165	0.16040	T	0.893511	0.63097	D	0.27785274	0.50842	0.19462019	0.43095	0.27785274	0.50842	0.19462019	0.43094	-9.924	0.73455	D	0.24123201788220155	0.32677	0.225	0.53648	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.028658	0.40563	21.2	0.99612461246257045	0.74873	0.92836	0.56664	D	AEFGBCI	0.543650	0.55889	D	-0.186577593640525	0.33692	1.914432	-0.0396017165835382	0.37944	2.228598	0.999999966733691	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.702456	0.68683	0	0.662433	0.64102	0	.	.	4.63	3.74	0.42108	4.425000	0.59623	2.027000	0.30236	0.599000	0.40250	1.000000	0.71638	0.946000	0.28899	0.888000	0.42677	0.0:0.9039:0.0:0.0961	10.892	0.46207	779	0.47767	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2271.98	36	chr3	39389595	.	C	T	2271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.557e+00;DP=892;ExcessHet=0.0000;FS=0.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.32;ReadPosRankSum=-2.680e-01;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,60:124:99:0|1:39389590_G_A:2286,0,2471:39389590	20	0	1	0
chr3	40462038	40462038	-	CTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTG:p.A159_K160insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/4:2,0,0,32,18,0,0:52:99:1691,1758,2415,1758,2415,2415,594,892,892,774,981,1394,1394,0,1316,1758,2415,2415,892,1394,2415,1758,2415,2415,892,1394,2415,2415	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTG:p.A159_K160insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/4:2,0,0,32,18,0,0:52:99:1691,1758,2415,1758,2415,2415,594,892,892,774,981,1394,1394,0,1316,1758,2415,2415,892,1394,2415,1758,2415,2415,892,1394,2415,2415	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTG:p.A159_K160insAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/4:2,0,0,32,18,0,0:52:99:1691,1758,2415,1758,2415,2415,594,892,892,774,981,1394,1394,0,1316,1758,2415,2415,892,1394,2415,1758,2415,2415,892,1394,2415,2415	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTG:p.A159_K160insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/4:2,0,0,32,18,0,0:52:99:1691,1758,2415,1758,2415,2415,594,892,892,774,981,1394,1394,0,1316,1758,2415,2415,892,1394,2415,1758,2415,2415,892,1394,2415,2415	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTGCTG:p.A159_K160insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/4:2,0,0,32,18,0,0:52:99:1691,1758,2415,1758,2415,2415,594,892,892,774,981,1394,1394,0,1316,1758,2415,2415,892,1394,2415,1758,2415,2415,892,1394,2415,2415	1	2	2	0
chr3	42210088	42210088	-	GGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGA:p.E624_G625insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/2:45,0,27,0,5:77:99:1063,1145,2976,0,1865,1790,1145,2976,1865,2976,876,2706,1644,2706,2657	1	3	1	0
chr3	42210088	42210088	-	GGAGGAGGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGAGGAGGA:p.E624_G625insEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/2:45,0,27,0,5:77:99:1063,1145,2976,0,1865,1790,1145,2976,1865,2976,876,2706,1644,2706,2657	1	3	1	0
chr3	42210088	42210088	-	GGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGA:p.E624_G625insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/2:45,0,27,0,5:77:99:1063,1145,2976,0,1865,1790,1145,2976,1865,2976,876,2706,1644,2706,2657	1	3	1	0
chr3	46709586	46709586	-	AAG	exonic	TMIE	.	nonframeshift insertion	TMIE:NM_001370524:exon4:c.210_211insAAG:p.K78_D79insK	Deafness, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	36052.73	62	chr3	46709583	.	TAAG	T,TAAGAAG	36052.73	.	AC=25,1;AF=0.595,0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1535;ExcessHet=4.5793;FS=0.569;InbreedingCoeff=-0.2115;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;MQRankSum=0.00;QD=28.75;ReadPosRankSum=0.200;SOR=0.670	GT:AD:DP:GQ:PL	1/1:1,89,0:90:99:3879,237,0,3882,267,3912	2	7	11	0
chr3	48562916	48562916	G	A	exonic	UCN2	.	nonsynonymous SNV	UCN2:NM_033199:exon2:c.C209T:p.S70L,	.	.	426	1089	7	0	0	7	0.00320366	.	.	3337909	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.659	P	0.025	B	0.424	N	1.000	N	0.345	N	.	.	-1.073	T	0.036	T	0.311	2.967	15.89	5.14	2.659	2.698	9.536	0.090	0.00211168459348	0.0004	0.000199681	0.0003	0	0.0004	0	0	0.0003	0.002	0.0005	0.0001682	26	154602	rs140823487	0.0001	0.0001	0.0001	0.0001	0.0017	0.0001	0.0001	0.0009	0.0007	0.0001	4.596e-05	0	0	0	0.0017	0.0001	0.0001	0.0005	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.719e-05	0.0002	0.0001	2.412e-05	0	0	0	0	0	0	0.0003	0.0009	0.0004	0.028	0.46129	D	0.06	0.45744	T	0.659	0.40886	P	0.025	0.20508	B	0.424048	0.12833	N	0.642921	1	0.08975	N	0	0.06538	N	.	.	.	-3.83	0.72120	D	0.1	0.08227	-1.0727	0.08830	T	0.036	0.15422	T	9	0.047373593	0.04046	T	0.002112	0.03908	T	0.090	0.26093	.	.	0.0482279557977	0.04254	0.06705452693425677	0.06643	0.0359813614536	0.03795	0.47079962492	0.34789	T	0.379706	0.74240	T	-0.346149	0.04973	T	-0.400845	0.33286	T	0.153763473033905	0.17399	T	0.525947	0.17303	T	0.119884774	0.28219	0.14038877	0.33465	0.119884774	0.28219	0.14038877	0.33464	-3.263	0.13265	T	.	.	0.211	0.43909	B	.	.	3.225627	0.43964	21.8	0.99685507048792343	0.79574	0.18590	0.20323	N	AEFDBCI	0.191455	0.31865	N	-0.363104665671574	0.26794	1.465055	-0.358959276164418	0.26233	1.447642	0.999999642369872	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.14	5.14	0.70008	2.335000	0.43588	7.088000	0.57495	0.676000	0.76740	0.197000	0.24273	1.000000	0.68203	0.167000	0.20881	0.0932:0.0:0.9068:0.0	9.536	0.38387	12	0.98946	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1760.98	35	chr3	48562916	.	G	A	1760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.155;DP=848;ExcessHet=0.0000;FS=3.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=1.29;SOR=0.599	GT:AD:DP:GQ:PL	0/1:66,70:136:99:1775,0,1591	20	0	1	0
chr3	48639710	48639710	G	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon34:c.C9875T:p.T3292M,	.	.	420	1096	6	0	0	6	0.00272975	.	.	734145	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	1.04	L	-0.82	T	0.003	D	0.487	T	0.636	3.436	17.62	5.55	2.600	8.610	19.508	0.323	0.328995110149	7.7e-05	0.000798722	0.0008	9.705e-05	8.657e-05	0	0	0.0001	0.0034	0.0049	0.0006533	101	154602	rs376186501	0.0003	0.0003	0.0002	0.0004	0.0040	0.0003	0.0003	0.0036	0.0035	0	0.0001	0	2.519e-05	0	0.0026	5.936e-05	0.0004	0.0040	0.0002	0.0002	0.0001	0.0003	0.0048	0.0002	0.0001	0.0033	0.0028	2.405e-05	0	6.533e-05	0	0	0	0.0034	0.0001	0.0005	0.0048	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	1.7	0.43825	L	-0.82	0.74053	T	-1.72	0.40850	N	0.502	0.53445	0.003	0.82311	D	0.487	0.80481	T	9	0.010765284	0.00238	T	0.328995	0.91696	D	0.323	0.64522	.	.	0.608661368051	0.60551	0.4866232991085486	0.48582	0.951033788563	0.72625	0.591078996658	0.51646	T	0.283623	0.65639	T	-0.170902	0.25097	T	-0.0177241	0.69179	D	0.0871992353793437	0.10883	T	0.940406	0.77539	D	0.1502373	0.34212	0.2658032	0.52418	0.1502373	0.34212	0.2658032	0.52417	-5.823	0.44774	T	.	.	0.315	0.54138	B	.	.	4.399149	0.67958	25.2	0.99781805326212525	0.86867	0.98986	0.89571	D	AEFGBI	0.911901	0.87180	D	0.616510593054461	0.74219	6.095525	0.594074094142613	0.74514	6.149965	0.999999999999986	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.55	5.55	0.83298	8.734000	0.91236	9.872000	0.82135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.168000	0.20914	0.0:0.0:1.0:0.0	19.508	0.95122	4	0.99387	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2057.98	35	chr3	48639710	.	G	A	2057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.400e-01;DP=883;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=0.499;SOR=0.655	GT:AD:DP:GQ:PL	0/1:72,85:157:99:2072,0,1705	20	0	1	0
chr3	49358244	49358246	GCC	-	exonic	GPX1	.	nonframeshift deletion	GPX1:NM_001329455:exon1:c.33_35del:p.A13del,	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	.	33	116	273	343	757	1716	0.805206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	62247.2	96	chr3	49358240	.	GGCCGCC	G,GGCC	62247.2	.	AC=20,13;AF=0.476,0.310;AN=42;BaseQRankSum=0.442;DP=2322;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=20,13;MLEAF=0.476,0.310;MQ=56.82;MQRankSum=-5.003e+00;QD=32.09;ReadPosRankSum=-2.300e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/1:63,36,0:99:99:1316,0,2470,1505,2579,4084	0	4	6	0
chr3	49643148	49643148	T	C	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon3:c.T1514C:p.V505A,	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.989	D	0.856	P	0.002	N	0.586	N	2.075	M	-0.97	T	-0.285	T	0.434	T	0.539	2.803	15.33	5.16	2.068	1.382	10.534	0.474	0.035044582194	7.7e-05	0.000798722	0.0005	0.0001	0	0	0	6.283e-05	0.0036	0.0037	0.0004398	68	154602	rs369804511	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	0	0	0	0	0.0025	3.071e-05	0.0003	0.0028	0.0002	0.0002	9.003e-05	0.0003	0.0044	0.0001	0.0001	0.0029	0.0025	2.409e-05	0	0	0	0	0	0.0034	7.354e-05	0	0.0044	0.09	0.31987	T	0.296	0.20615	T	0.989	0.62824	D	0.856	0.61001	P	0.002221	0.36970	N	0.224310	0.585904	0.31061	N	1.7	0.43825	L	-0.97	0.75670	T	-1.19	0.30346	N	0.403	0.44379	-0.2852	0.75399	T	0.434	0.77478	T	10	0.015106589	0.00317	T	0.035045	0.56085	D	0.474	0.76685	.	.	0.698943199084	0.69634	0.257177841865724	0.25631	0.332449980927	0.35288	0.71161210537	0.68827	T	0.179829	0.53096	T	-0.313038	0.07483	T	-0.226425	0.52117	T	0.0637317938212484	0.07742	T	0.691931	0.30130	T	0.0611401	0.12627	0.08068026	0.18272	0.0611401	0.12627	0.08068026	0.18272	-2.904	0.09183	T	.	.	0.133	0.28750	B	.	.	3.621474	0.51253	23.1	0.9957249301295702	0.72501	0.80659	0.40240	D	AEFGBHCI	0.482729	0.52347	N	0.350403888675585	0.58761	4.050407	0.345959696740512	0.58265	3.996038	0.999984608598221	0.51787	0.533608	0.22052	0	0.547309	0.14657	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	5.16	5.16	0.70563	0.780000	0.26421	4.194000	0.42423	0.665000	0.62972	0.465000	0.26683	1.000000	0.68203	0.993000	0.69303	0.1443:0.0:0.0:0.8557	10.534	0.44180	1	0.99630	Zinc finger, piccolo-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	674.98	33	chr3	49643148	.	T	C	674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.086e+00;DP=722;ExcessHet=0.0000;FS=1.433;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=-2.010e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:16,27:43:99:689,0,410	20	0	1	0
chr3	49718354	49718354	A	G	exonic	AMIGO3	.	nonsynonymous SNV	AMIGO3:NM_198722:exon1:c.T1112C:p.V371A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.994	D	0.000	D	1.000	D	2.88	M	-2.14	D	0.705	D	0.799	D	0.806	4.872	27.9	5.4	2.046	9.284	14.238	0.706	0.274203768896	.	.	5.85e-05	0	0	0	0	0	0.0023	0.0003	4.53e-05	7	154602	rs753941544	1.643e-05	1.642e-05	5.448e-06	2.752e-05	0.0003	1.111e-05	9.34e-06	0.0002	0.0001	0	0	0	0	0	0	8.993e-07	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.131	0.34596	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.745	0.80253	M	-2.14	0.86415	D	-2.08	0.47514	N	0.195	0.21449	0.705	0.93237	D	0.799	0.93205	D	10	0.39506713	0.55167	T	0.274204	0.89993	D	0.706	0.89468	0.367	0.37524	0.996028997461	0.99598	0.9138165146817268	0.91356	.	.	0.697179198265	0.66737	T	0.119633	0.44130	T	0.0629192	0.59978	T	0.174569	0.81679	D	0.709342479705811	0.41168	D	0.513449	0.16474	T	0.2225498	0.44857	0.14555861	0.34518	0.2225498	0.44857	0.14555861	0.34517	-5.966	0.45994	T	.	.	0.632	0.70186	P	.	.	4.708970	0.75631	26.4	0.99836524418122485	0.91714	0.97520	0.75284	D	AEFDGBHCI	0.895645	0.83588	D	0.794147457081205	0.85737	8.666642	0.733136261851564	0.84894	8.420915	0.999999999999985	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.664235	0.64389	0	.	.	5.4	5.4	0.77957	7.511000	0.80606	9.342000	0.80225	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	1.0:0.0:0.0:0.0	14.238	0.65484	1	0.99630	Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2013.98	35	chr3	49718354	.	A	G	2013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.057e+00;DP=866;ExcessHet=0.0000;FS=1.250;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-6.730e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/1:73,89:162:99:2028,0,1828	20	0	1	0
chr3	51993843	51993843	-	CCTTGG	exonic	RPL29	.	nonframeshift insertion	RPL29:NM_000992:exon4:c.385_386insCCAAGG:p.K130_D131insAK,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	9890.36	23	chr3	51993837	.	TCCTTGG	TCCTTGGCCTTGG,T	9890.36	.	AC=10,8;AF=0.250,0.200;AN=40;BaseQRankSum=0.471;DP=604;ExcessHet=4.5531;FS=11.809;InbreedingCoeff=-0.2121;MLEAC=10,8;MLEAF=0.250,0.200;MQ=57.96;MQRankSum=0.00;QD=24.85;ReadPosRankSum=-3.600e-02;SOR=1.183	GT:AD:DP:GQ:PL	0/1:12,13,0:25:99:510,0,465,546,504,1050	5	0	8	1
chr3	57098200	57098200	C	A	exonic	IL17RD	.	nonsynonymous SNV	IL17RD:NM_017563:exon12:c.G1503T:p.M501I	Hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.95	D	0.000	D	1.000	D	2.25	M	1.28	T	-0.697	T	0.235	T	0.905	4.309	22.6	5.54	2.606	7.276	19.48	0.423	0.0365107764805	.	.	2.484e-05	0	0	0	0	1.507e-05	0	0.0001	2.59e-05	4	154602	rs768116207	1.984e-05	1.984e-05	6.807e-06	3.301e-05	0.0003	1.392e-05	1.204e-05	0.0002	0.0002	0	0	0	0	0	0	0	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	0.997	0.70673	D	0.908	0.64494	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	1.28	0.35960	T	-3.64	0.69835	D	0.901	0.90138	-0.6966	0.60600	T	0.235	0.60234	T	10	0.8826078	0.87577	D	0.036511	0.57034	D	0.423	0.73152	0.777	0.90235	0.506006782367	0.50240	0.6790585228477849	0.67844	0.612962466754	0.55882	0.67223495245	0.63157	T	0.84463	0.96407	D	0.100725	0.64371	D	0.143577	0.79775	D	0.90264368057251	0.55566	D	0.912709	0.68911	D	0.660246	0.75912	0.64095384	0.79023	0.660246	0.75913	0.64095384	0.79024	-9.107	0.68382	D	0.8054977396699579	0.88144	0.983	0.93296	P	.;.;.;.	.;.;.;.	4.573127	0.72174	25.8	0.9964383446418299	0.76819	0.99278	0.93852	D	AEFDBI	0.854977	0.77204	D	0.734797474111379	0.81912	7.634839	0.703998432003418	0.82682	7.828	0.999999999999999	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.586402	0.36253	0	.	.	5.54	5.54	0.82907	7.359000	0.78737	7.636000	0.62963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.48	0.94997	648	0.63242	SEFIR domain|SEFIR domain;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2073.98	37	chr3	57098200	.	C	A	2073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.242e+00;DP=974;ExcessHet=0.0000;FS=6.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.115;SOR=0.351	GT:AD:DP:GQ:PL	0/1:96,82:178:99:2088,0,2833	20	0	1	0
chr3	57377165	57377165	T	C	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon53:c.A8281G:p.M2761V,	.	.	1164	354	4	0	0	4	0.00561798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1019166870	0	9.701e-05	.	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	0.0035	0.0035	0.0039	0.0030	0.0061	0.0032	0.0031	0.0057	0.0055	0.0013	0	0.0022	0.0003	0.0002	0.0004	0	0.0061	0.0028	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.34767	.	.	.	.	.	.	.	0.08644739	0.14696	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582561	0.86353	D	.	.	.	.	.	.	.	.	.	0.640736	0.25328	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13456	B	.	.	2.637005	0.34303	19.59	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.771000	0.47354	2.952000	0.35717	-0.163000	0.11536	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	.	.	.	301	0.87912	Dynein heavy chain, coiled coil stalk	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2032.11	43	chr3	57377165	.	T	C	2032.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.02;DP=906;ExcessHet=0.1072;FS=2.150;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.509;SOR=0.521	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1128,0,1097	19	0	2	0
chr3	57641683	57641683	T	C	exonic	DENND6A	.	nonsynonymous SNV	DENND6A:NM_152678:exon12:c.A1102G:p.I368V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.279	B	0.217	B	0.000	D	1.000	D	0.425	N	.	.	-0.980	T	0.130	T	0.534	2.573	14.56	5.26	2.115	7.519	15.453	0.144	0.00606356876668	.	.	2.471e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs774938333	1.78e-05	1.779e-05	6.811e-06	2.889e-05	0.0003	1.238e-05	1.052e-05	0.0002	0.0002	0	0	0	2.522e-05	0	0	0	1.658e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.248	0.23845	T	0.279	0.32056	B	0.217	0.37636	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.635	0.41844	L	.	.	.	-0.55	0.16799	N	0.669	0.67736	-0.9798	0.35048	T	0.130	0.43907	T	9	0.43108678	0.57495	T	0.006064	0.15846	T	0.144	0.38394	0.503	0.59615	0.218628672733	0.21463	0.33210949691023434	0.33123	0.740148035637	0.63215	0.740899562836	0.73106	T	0.030909	0.21799	T	-0.133414	0.30945	T	-0.192748	0.55332	T	0.608383417129517	0.36735	D	0.882912	0.60466	D	0.13757399	0.31850	0.12853716	0.30923	0.13757399	0.31849	0.12853716	0.30923	-7.495	0.57575	T	.	.	0.106	0.19800	B	.	.	3.304217	0.45370	22.1	0.99277197726802624	0.57765	0.98302	0.81423	D	AEDBI	0.833815	0.75196	D	0.0209813119006452	0.42809	2.586454	0.208093046317925	0.50297	3.223161	0.999999921204647	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.26	5.26	0.73479	7.583000	0.81848	7.872000	0.72015	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.453	0.75018	201	0.92177	Tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	365.98	34	chr3	57641683	.	T	C	365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-01;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.32;ReadPosRankSum=0.030;SOR=0.728	GT:AD:DP:GQ:PL	0/1:31,19:50:99:380,0,739	20	0	1	0
chr3	70972152	70972152	T	C	exonic	FOXP1	.	nonsynonymous SNV	FOXP1:NM_001244810:exon18:c.A1559G:p.H520R,	Mental retardation with language impairment and with or without autistic features, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	363694	not_provided|FOXP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0091853	0.0018	0	0.0167	0.0354	0	0.0015	0.0152	0.0003	0.0008215	127	154602	rs76145927	0.0023	0.0022	0.0024	0.0023	0.0561	0.0023	0.0022	0.0540	0.0532	0.0004	0.0098	0.0017	0.0561	0.0120	0.0009	0.0002	0.0033	0.0004	0.0035	0.0035	0.0027	0.0043	0.0398	0.0032	0.0032	0.0354	0.0336	0.0006	0	0.0056	0.0009	0.0398	0.0162	0	0.0005	0.0033	0.0004	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.954	0.96302	.	.	.	.	.	.	.	0.009577841	0.00216	T	.	.	.	.	.	.	.	0.805881646239	0.80406	0.9195165937247104	0.91927	.	.	.	.	.	.	.	.	0.110814	0.65437	D	0.448089	0.93529	D	.	.	.	0.964304	0.86758	D	.	.	.	.	.	.	.	.	-9.855	0.73039	D	.	.	0.999	0.98631	P	.;.	.;.	2.099985	0.26722	17.22	0.96490831351314887	0.30005	0.98453	0.82934	D	AEFBI	0.876408	0.80040	D	.	.	.	.	.	.	0.999999999998693	0.74766	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	7.756000	0.84058	3.551000	0.39048	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.576	0.84532	665	0.61472	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	815.98	34	chr3	70972152	.	T	C	815.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.637e+00;DP=775;ExcessHet=0.0000;FS=2.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=2.11;SOR=0.456	GT:AD:DP:GQ:PL	0/1:29,37:66:99:830,0,714	20	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S,	.	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	49921.47	133	chr3	75730451	.	T	G	49921.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.927e+00;DP=2763;ExcessHet=51.1880;FS=6.167;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=54.60;MQRankSum=-6.357e+00;QD=18.50;ReadPosRankSum=1.68;SOR=0.393	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,72:162:99:0|1:75730450_C_T:2732,0,3542:75730450	0	0	20	1
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I,	.	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1725.72	84	chr3	75730611	.	G	T	1725.72	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.901;DP=1563;ExcessHet=6.1002;FS=32.590;InbreedingCoeff=-0.3415;MLEAC=10;MLEAF=0.250;MQ=56.09;MQRankSum=-5.845e+00;QD=2.20;ReadPosRankSum=-2.408e+00;SOR=8.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,10:103:99:.:.:130,0,3846	10	0	10	1
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*	.	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	13057.87	155	chr3	75736884	.	G	GA	13057.87	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.070e-01;DP=3250;ExcessHet=25.1139;FS=1.336;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=56.86;MQRankSum=-7.182e+00;QD=4.87;ReadPosRankSum=0.148;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:178,27:205:99:.:.:167,0,7101	4	0	17	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F	.	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.024	B	0.002	B	.	.	1.000	N	0	N	3.37	T	-0.932	T	0.010	T	0.477	1.695	11.63	-0.734	-0.244	-0.140	5.509	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	30918.43	158	chr3	75736891	.	G	A	30918.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.300e-01;DP=3330;ExcessHet=43.6797;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=57.04;MQRankSum=-9.187e+00;QD=9.77;ReadPosRankSum=0.205;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,47:216:99:0|1:75736891_G_A:1440,0,6841:75736891	1	0	20	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D	.	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.111	B	0.006	B	.	.	1.000	N	0	N	3.39	T	-0.948	T	0.010	T	0.567	0.479	6.601	-0.249	-0.078	-0.941	3.115	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28820.74	164	chr3	75736920	.	C	A	28820.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.130e-01;DP=3467;ExcessHet=54.0936;FS=2.025;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.55;MQRankSum=-8.791e+00;QD=8.35;ReadPosRankSum=0.030;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,44:228:99:0|1:75736891_G_A:1294,0,7594:75736891	0	0	21	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I	.	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.219	B	0.007	B	.	.	1.000	N	0	N	3.47	T	-0.947	T	0.008	T	0.512	0.877	8.556	0.364	0.148	-0.065	3.729	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28464.74	166	chr3	75736928	.	C	T	28464.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.43;DP=3516;ExcessHet=54.0936;FS=0.608;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.92;MQRankSum=-9.076e+00;QD=8.18;ReadPosRankSum=-5.000e-02;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,46:229:99:0|1:75736891_G_A:1372,0,7537:75736891	0	0	21	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R	.	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.02	B	0.004	B	.	.	1.000	N	0	N	5.46	T	-0.923	T	0.002	T	0.494	-0.366	2.277	-0.78	-0.138	-1.375	1.651	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	17679.81	152	chr3	75736981	.	T	C	17679.81	.	AC=17;AF=0.500;AN=34;BaseQRankSum=-2.640e-01;DP=3565;ExcessHet=25.1139;FS=0.572;InbreedingCoeff=-0.8248;MLEAC=19;MLEAF=0.559;MQ=52.43;MQRankSum=-7.792e+00;QD=6.08;ReadPosRankSum=-1.711e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/1:168,48:216:99:828,0,4675	0	0	17	4
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K	.	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.049	B	0.048	B	.	.	1.000	N	-0.705	N	2.16	T	-0.957	T	0.015	T	0.509	0.585	7.159	-0.008	0.009	-2.650	2.041	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	25498.56	170	chr3	75737012	.	C	T	25498.56	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-8.280e-01;DP=3725;ExcessHet=36.0830;FS=0.550;InbreedingCoeff=-0.8529;MLEAC=19;MLEAF=0.475;MQ=53.26;MQRankSum=-5.813e+00;QD=7.76;ReadPosRankSum=-2.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:153,49:202:99:989,0,5177	1	0	19	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P	.	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.178	B	0.056	B	.	.	1.000	N	2.8	M	3.15	T	-1.043	T	0.033	T	0.597	1.732	11.75	1.59	1.020	-3.336	7.316	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	33734.43	171	chr3	75737060	.	A	G	33734.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.003e+00;DP=4296;ExcessHet=43.6797;FS=0.535;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.79;MQRankSum=-5.923e+00;QD=8.57;ReadPosRankSum=1.41;SOR=0.754	GT:AD:DP:GQ:PL	0/1:144,83:227:99:1719,0,4739	1	0	20	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y	.	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	1.000	N	3.55	H	-1.94	D	-0.050	T	0.770	D	0.423	2.226	13.40	0.518	0.202	3.803	5.69	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66693.74	186	chr3	75737092	.	C	T	66693.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.370e+00;DP=4347;ExcessHet=54.0936;FS=3.268;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.30;MQRankSum=-9.287e+00;QD=15.47;ReadPosRankSum=0.780;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,95:248:99:0|1:75737092_C_T:3497,0,6129:75737092	0	0	21	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S	.	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.003	B	.	.	0.811	N	0.185	N	2.5	T	-0.966	T	0.015	T	0.48	0.761	8.026	-1.65	-0.344	-3.350	0.098	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66461.74	187	chr3	75737094	.	T	A	66461.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.054e+00;DP=4329;ExcessHet=54.0936;FS=4.136;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.41;MQRankSum=-9.552e+00;QD=15.42;ReadPosRankSum=0.880;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,94:249:99:0|1:75737092_C_T:3470,0,6216:75737092	0	0	21	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X	.	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.506	37	1.59	1.020	2.954	7.316	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	64403.74	176	chr3	75737105	.	T	A	64403.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.795e+00;DP=4269;ExcessHet=54.0936;FS=5.083;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.87;MQRankSum=-1.015e+01;QD=15.17;ReadPosRankSum=0.373;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,92:248:99:0|1:75737092_C_T:3374,0,6205:75737092	0	0	21	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q	.	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.738	P	0.672	P	.	.	1.000	N	3.595	H	-2.18	D	0.069	D	0.747	D	0.504	1.222	9.956	0.372	0.124	0.275	4.797	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54907.74	170	chr3	75737127	.	A	C	54907.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.246e+00;DP=4011;ExcessHet=54.0936;FS=5.236;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.48;MQRankSum=-1.090e+01;QD=13.78;ReadPosRankSum=0.018;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,78:238:99:0|1:75737127_A_C:2794,0,6484:75737127	0	0	21	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del	.	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	31686.7	129	chr3	75737163	.	CCTACATTCT	C	31686.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.49;DP=3384;ExcessHet=54.0936;FS=14.269;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.84;MQRankSum=-1.107e+01;QD=9.48;ReadPosRankSum=-6.730e-01;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,58:225:99:0|1:75737127_A_C:1933,0,6809:75737127	0	0	21	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S	.	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.588	P	0.118	B	.	.	1.000	N	0.78	N	3.45	T	-0.962	T	0.011	T	0.402	2.344	13.80	0.281	0.088	6.618	6.406	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	84334.74	182	chr3	75737519	.	G	A	84334.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.22;DP=4534;ExcessHet=54.0936;FS=3.213;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.20;MQRankSum=-6.820e+00;QD=19.56;ReadPosRankSum=0.348;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:126,102:228:99:.:.:3764,0,4855	0	0	21	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T	.	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.011	B	0.007	B	.	.	1.000	N	-0.05	N	3.17	T	-0.913	T	0.010	T	0.467	-0.210	2.980	-2.35	-0.437	-5.897	5.111	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	93431.74	214	chr3	75737590	.	A	G	93431.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.450e-01;DP=4965;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.17;MQRankSum=-1.228e+01;QD=19.03;ReadPosRankSum=0.838;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,126:281:99:0|1:75737590_A_G:4744,0,6079:75737590	0	0	21	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R	.	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.003	B	.	.	1.000	N	-0.66	N	3.16	T	-0.950	T	0.008	T	0.327	0.845	8.413	-3.14	-1.861	-0.144	4.750	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	99264.74	227	chr3	75737608	.	T	C	99264.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.102;DP=5151;ExcessHet=54.0936;FS=0.516;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=52.90;MQRankSum=-1.341e+01;QD=19.33;ReadPosRankSum=0.322;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,129:293:99:0|1:75737590_A_G:4923,0,6498:75737590	0	0	21	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S	.	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.89	P	0.451	P	.	.	1.000	N	2.965	M	2.96	T	-1.054	T	0.045	T	0.468	1.519	11.03	0.405	0.127	-1.802	5.213	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	101560.74	248	chr3	75737622	.	T	A	101560.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.388e+00;DP=5296;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.40;MQRankSum=-1.311e+01;QD=19.29;ReadPosRankSum=-1.560e-01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,129:298:99:0|1:75737590_A_G:4908,0,6708:75737590	0	0	21	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C	.	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.994	D	0.387	B	.	.	1.000	N	1.355	L	5.42	T	-0.871	T	0.003	T	0.447	0.648	7.478	0.774	0.291	-3.025	2.500	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	104187.74	246	chr3	75737651	.	G	A	104187.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.82;DP=5303;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.27;MQRankSum=-1.184e+01;QD=19.78;ReadPosRankSum=-8.750e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,132:297:99:0|1:75737590_A_G:5046,0,6531:75737590	0	0	21	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X	.	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.220	37	1.71	1.073	0.059	3.984	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	99202.74	235	chr3	75737676	.	A	T	99202.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.21;DP=4967;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.83;MQRankSum=-9.816e+00;QD=20.18;ReadPosRankSum=-1.028e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,125:284:99:0|1:75737590_A_G:4770,0,6300:75737590	0	0	21	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K	.	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.87	P	0.559	P	.	.	1.000	N	1.11	L	3.2	T	-1.016	T	0.024	T	0.38	2.298	13.64	0.993	0.389	-0.570	6.443	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.475	53271.84	236	chr3	75737840	.	C	T	53271.84	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-1.867e+00;DP=4970;ExcessHet=36.0830;FS=8.679;InbreedingCoeff=-0.8667;MLEAC=20;MLEAF=0.500;MQ=58.83;MQRankSum=-4.939e+00;QD=12.52;ReadPosRankSum=-2.000e-01;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,113:306:99:0|1:75737814_C_T:4078,0,7342:75737814	1	0	19	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R	.	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.035	B	0.038	B	.	.	1.000	N	4.015	H	-2.18	D	0.078	D	0.691	D	0.467	1.068	9.361	0.513	0.158	2.178	5.415	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	26024.74	185	chr3	75737881	.	T	C	26024.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.184e+00;DP=4449;ExcessHet=54.0936;FS=19.179;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.45;MQRankSum=-7.835e+00;QD=6.19;ReadPosRankSum=-4.722e+00;SOR=1.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,54:244:99:0|1:75737881_T_C:1407,0,7538:75737881	0	0	21	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19918.7	193	chr3	75737891	.	G	GAAAT	19918.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.779;DP=4144;ExcessHet=54.0936;FS=22.520;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.28;MQRankSum=-8.489e+00;QD=4.94;ReadPosRankSum=-4.220e+00;SOR=2.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,40:235:99:0|1:75737881_T_C:1038,0,7959:75737881	0	0	21	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del	.	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18824.7	191	chr3	75737893	.	A	ACTT	18824.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.081;DP=4075;ExcessHet=54.0936;FS=23.299;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.20;MQRankSum=-8.682e+00;QD=4.74;ReadPosRankSum=-3.534e+00;SOR=2.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,38:231:99:0|1:75737881_T_C:982,0,7925:75737881	0	0	21	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K	.	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.236	B	0.014	B	.	.	1.000	N	0.635	N	3.2	T	-0.977	T	0.011	T	0.371	1.043	9.260	-3.59	-1.049	-1.278	0.971	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4167	9964.28	257	chr3	75738008	.	C	T	9964.28	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-1.381e+00;DP=4529;ExcessHet=17.4423;FS=5.547;InbreedingCoeff=-0.6412;MLEAC=16;MLEAF=0.444;MQ=57.21;MQRankSum=-1.159e+01;QD=2.93;ReadPosRankSum=3.26;SOR=1.304	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,26:283:99:0|1:75737994_T_C:318,0,10612:75737994	3	0	15	3
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F	.	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.888	P	0.346	B	.	.	1.000	N	1.18	L	3.18	T	-1.017	T	0.014	T	0.416	0.583	7.147	-3.58	-1.068	-1.364	4.138	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3611	6970.11	234	chr3	75738053	.	C	A	6970.11	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.270e+00;DP=4323;ExcessHet=11.8493;FS=4.208;InbreedingCoeff=-0.5294;MLEAC=14;MLEAF=0.389;MQ=57.15;MQRankSum=-1.006e+01;QD=2.47;ReadPosRankSum=-1.315e+00;SOR=1.290	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,25:291:99:0|1:75738051_G_T:249,0,11094:75738051	5	0	13	3
chr3	75738862	75738862	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A761G:p.Q254R	.	.	410	1102	10	0	0	10	0.00451671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.563	P	0.264	B	.	.	1.000	N	1.32	L	3.4	T	-0.989	T	0.018	T	0.472	0.786	8.143	1.02	0.330	0.848	1.882	0.071	0.000884616217576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283106105	7.232e-05	0.0009	5.367e-05	9.149e-05	0.0009	6.049e-05	5.643e-05	0.0005	0.0004	0	2.805e-05	0.0002	0	2.037e-05	0.0009	3.155e-05	6.917e-05	0.0006	0.0005	0.0011	0.0005	0.0005	0.0038	0.0004	0.0004	0.0024	0.0020	9.625e-05	0	0.0002	0.0038	0	0	0.0034	0.0005	0.0005	0.0038	0.016	0.51853	D	0.329	0.18617	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.24	0.06845	T	-0.45	0.14782	N	0.064	0.03613	-0.9894	0.32753	T	0.018	0.07470	T	9	0.035342604	0.01779	T	8.85E-4	0.00800	T	0.071	0.20720	.	.	0.0138822411134	0.00435	0.005907457050966571	0.00559	.	.	0.415047764778	0.27154	T	.	.	.	-0.129762	0.31533	T	-0.42417	0.30598	T	0.219472870230675	0.21438	T	0.187481	0.01957	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24192	B	.	.	0.025700	0.04461	1.182	0.93998594445757111	0.24092	0.03754	0.09060	N	AEFDBHCI	.	.	.	-0.679949763349119	0.16595	0.8468296	-0.835604802873844	0.13633	0.7083299	0.999996066291213	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.2	1.02	0.19102	0.438000	0.21277	.	.	-1.123000	0.01469	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.273:0.1678:0.0:0.5592	1.882	0.03033	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	377.11	200	chr3	75738862	.	T	C	377.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.720e-01;DP=4348;ExcessHet=0.1072;FS=4.278;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.38;MQRankSum=-3.642e+00;QD=0.63;ReadPosRankSum=0.097;SOR=1.294	GT:AD:DP:GQ:PL	0/1:285,34:319:62:62,0,8034	19	0	2	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E	.	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.981	D	0.792	P	.	.	1.000	N	1.63	L	1.0	T	-1.005	T	0.128	T	0.5	0.800	8.209	0.059	0.039	0.285	5.008	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	5856.69	126	chr3	75739165	.	C	T	5856.69	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-8.800e-02;DP=2841;ExcessHet=36.0830;FS=16.853;InbreedingCoeff=-0.8321;MLEAC=19;MLEAF=0.452;MQ=57.03;MQRankSum=-7.844e+00;QD=2.33;ReadPosRankSum=-1.424e+00;SOR=1.267	GT:AD:DP:GQ:PL	0/1:130,26:156:99:328,0,4144	2	0	19	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K	.	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.588	P	0.118	B	.	.	1.000	N	0.805	L	0.91	T	-1.039	T	0.052	T	0.501	-1.711	0.011	-0.13	-0.008	-0.013	8.996	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	13994.74	75	chr3	75739283	.	G	T	13994.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.485e+00;DP=2154;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.74;MQRankSum=-4.923e+00;QD=6.68;ReadPosRankSum=0.840;SOR=0.744	GT:AD:DP:GQ:PL	0/1:104,18:122:99:189,0,2975	0	0	21	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,31,0:128:99:0|1:98133456_ACCCC_A:570,0,3844,861,3934,4796:98133456	12	0	6	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,31,0:128:99:0|1:98133456_ACCCC_A:570,0,3844,861,3934,4796:98133456	12	0	6	0
chr3	98133457	98133457	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C760G:p.P254A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.151	B	0.232	B	0.355	N	1.000	N	0.99	L	8.7	T	-0.977	T	0.000	T	0.282	-0.269	2.712	-0.991	0.162	-0.392	0.252	0.060	0.000569954661155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.329e-05	0.0018	6.384e-05	4.27e-05	0.0002	4.354e-05	3.971e-05	8.053e-05	5.462e-05	0.0002	0	3.884e-05	0	0	0.0002	6.21e-05	1.708e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.034	0.52727	D	0.151	0.28027	B	0.232	0.38314	B	0.354555	0.13763	N	0.638540	1	0.08975	N	0.41	0.12415	N	8.7	0.00113	T	-2.42	0.53096	N	0.208	0.23125	-0.9765	0.35794	T	0.000	0.00114	T	10	0.06313068	0.08178	T	5.7E-4	0.00233	T	0.060	0.17295	0.376	0.38994	0.151104730317	0.14643	0.05160260000435715	0.05102	0.305303193982	0.32830	0.232944488525	0.02193	T	0.007444	0.06846	T	-0.267429	0.12046	T	-0.62192	0.11035	T	0.254086643457413	0.23055	T	0.806719	0.45571	T	0.06336548	0.13335	0.05555225	0.09765	0.06336548	0.13334	0.05555225	0.09764	-3.319	0.13984	T	.	.	0.103	0.18331	B	.;.	.;.	1.419986	0.18368	13.70	0.79297022959657282	0.12678	0.03061	0.07965	N	AEFI	0.062772	0.12088	N	-0.896657213234765	0.10921	0.5243543	-0.985832915716643	0.10103	0.5067427	1.9149263690292E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	-0.991	0.09712	-0.193000	0.09572	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.3369:0.2611:0.1662:0.2358	0.252	0.00192	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:97,0,31:128:99:0|1:98133456_ACCCC_A:570,861,4796,0,3934,3844:98133456	3	0	1	8
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:97,0,31:128:99:0|1:98133456_ACCCC_A:570,861,4796,0,3934,3844:98133456	3	0	1	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	378.19	118	chr3	98133459	.	C	G,*	378.19	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-1.973e+00;DP=1992;ExcessHet=6.1002;FS=147.603;InbreedingCoeff=-0.5184;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=2.40;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:97,0,31:128:99:0|1:98133456_ACCCC_A:570,861,4796,0,3934,3844:98133456	3	0	1	8
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,30,0,0,0,0:127:99:0|1:98133456_ACCCC_A:554,0,3847,845,3934,4780,845,3934,4780,4780,845,3934,4780,4780,4780,845,3934,4780,4780,4780,4780:98133456	0	0	5	10
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,30,0,0,0,0:127:99:0|1:98133456_ACCCC_A:554,0,3847,845,3934,4780,845,3934,4780,4780,845,3934,4780,4780,4780,845,3934,4780,4780,4780,4780:98133456	0	0	5	10
chr3	98133460	98133460	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C763G:p.L255V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.999	D	0.001	D	1.000	N	1.325	L	8.74	T	-0.730	T	0.001	T	0.254	0.426	6.315	3.57	1.818	-0.974	8.167	0.060	0.00117854807808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.962e-05	0.0018	9.935e-05	5.982e-05	0.0002	6.745e-05	6.308e-05	8.053e-05	7.118e-05	0.0002	0	0	2.539e-05	0	0	9.229e-05	6.835e-05	3.522e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.161	0.31326	T	1.0	0.90584	D	0.999	0.92359	D	0.000719	0.42254	D	0.000000	1	0.08975	N	1.055	0.26876	L	8.74	0.00084	T	-2.84	0.59873	D	0.082	0.05799	-0.7301	0.58959	T	0.001	0.00287	T	10	0.22429666	0.39230	T	0.001179	0.01509	T	0.060	0.17295	0.371	0.38176	0.298745278005	0.29478	0.048044440119727576	0.04747	0.654731206335	0.58542	0.272874593735	0.06519	T	0.007249	0.06665	T	-0.259952	0.12906	T	-0.61118	0.11889	T	0.845799565315247	0.49807	D	0.80082	0.44648	T	0.1752088	0.38366	0.14435342	0.34275	0.1752088	0.38366	0.14435342	0.34274	-3.447	0.15697	T	.	.	0.132	0.28492	B	.;.	.;.	2.299242	0.29417	18.12	0.98981953560601799	0.49760	0.02367	0.06739	N	AEFI	0.059639	0.11279	N	-0.196966090587521	0.33261	1.884947	-0.353468082146493	0.26402	1.458076	1.0108118885271E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	-0.690000	0.05240	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.2395:0.7605:0.0:0.0	8.167	0.30391	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,30,0,0,0,0:127:99:0|1:98133456_ACCCC_A:554,0,3847,845,3934,4780,845,3934,4780,4780,845,3934,4780,4780,4780,845,3934,4780,4780,4780,4780:98133456	0	0	5	10
chr3	98133460	98133460	-	GTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGTGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,30,0,0,0,0:127:99:0|1:98133456_ACCCC_A:554,0,3847,845,3934,4780,845,3934,4780,4780,845,3934,4780,4780,4780,845,3934,4780,4780,4780,4780:98133456	0	0	5	10
chr3	98133460	98133460	-	GGTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGTGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,30,0,0,0,0:127:99:0|1:98133456_ACCCC_A:554,0,3847,845,3934,4780,845,3934,4780,4780,845,3934,4780,4780,4780,845,3934,4780,4780,4780,4780:98133456	0	0	5	10
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.005	B	0.053	B	0.261	N	1.000	N	1.715	L	0.99	T	-1.004	T	0.079	T	0.179	-0.795	0.690	0.621	0.219	-0.776	1.131	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	2747.51	121	chr3	98133463	.	C	G,T	2747.51	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-4.760e+00;DP=1685;ExcessHet=2.5830;FS=151.643;InbreedingCoeff=-0.1887;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.02;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,30,0:125:99:0|1:98133456_ACCCC_A:560,0,3746,845,3833,4678:98133456	14	0	6	0
chr3	98133463	98133463	C	T	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766T:p.L256F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.026	B	0.119	B	0.261	N	1.000	N	0.865	L	0.99	T	-1.030	T	0.062	T	0.114	-1.253	0.050	0.621	0.219	-0.776	1.131	0.024	0.00115650910057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.841e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.41	0.14544	T	0.026	0.19406	B	0.119	0.32162	B	0.261193	0.15311	N	0.542116	1	0.08975	N	-0.23	0.03940	N	0.99	0.41750	T	-1.08	0.28084	N	0.105	0.08925	-1.0300	0.20454	T	0.062	0.25708	T	10	0.04290554	0.03085	T	0.001157	0.01459	T	0.024	0.04979	0.375	0.38830	0.0762999501168	0.06990	0.0487108067063726	0.04814	0.321367064236	0.34338	0.290525436401	0.08999	T	0.00438	0.03788	T	-0.322622	0.06685	T	-0.701201	0.05761	T	0.424735397100449	0.29866	T	0.652935	0.26315	T	0.046653233	0.07844	0.04369084	0.05494	0.046653233	0.07844	0.04369084	0.05494	-3.928	0.22723	T	.	.	0.131	0.34004	B	.;.	.;.	0.632429	0.10007	6.762	0.62397499402890433	0.06952	0.02895	0.07685	N	AEFI	0.070478	0.13993	N	-1.21870644392077	0.04729	0.2140418	-1.22146664885687	0.05566	0.2655665	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	2747.51	121	chr3	98133463	.	C	G,T	2747.51	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-4.760e+00;DP=1685;ExcessHet=2.5830;FS=151.643;InbreedingCoeff=-0.1887;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.02;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,30,0:125:99:0|1:98133456_ACCCC_A:560,0,3746,845,3833,4678:98133456	14	0	6	0
chr3	98283014	98283014	A	G	exonic	OR5H2	.	nonsynonymous SNV	OR5H2:NM_001005482:exon1:c.A127G:p.T43A,	.	.	419	1042	58	3	0	64	0.0297952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.001	U	1.000	N	1.675	L	6.94	T	-0.921	T	0.003	T	0.241	1.300	10.26	3.2	1.458	2.045	9.723	0.085	.	0.0065	0.00539137	0.0065	0.0017	0.0061	0.0001	0.0008	0.0094	0.0099	0.0037	0.0063518	982	154602	rs138288586	0.0078	0.0078	0.0076	0.0080	0.0499	0.0077	0.0076	0.0452	0.0434	0.0020	0.0086	0.0137	7.56e-05	0.0012	0.0499	0.0083	0.0099	0.0047	0.0065	0.0065	0.0068	0.0062	0.0109	0.0062	0.0060	0.0095	0.0090	0.0021	0.0033	0.0109	0.0130	0.0004	0.0010	0.0442	0.0087	0.0175	0.0060	0.005	0.63226	D	0.016	0.60972	D	1.0	0.90584	D	0.998	0.88582	D	0.000995	0.40743	U	0.000000	1	0.08975	N	1.3	0.32576	L	6.94	0.01376	T	-4.77	0.80851	D	0.348	0.38950	-0.9212	0.45390	T	0.003	0.00864	T	10	0.004910052	0.00105	T	.	.	.	0.085	0.24743	.	.	0.483082108137	0.47938	0.1894909077158087	0.18867	0.128535529483	0.14494	0.273199915886	0.06563	T	0.010184	0.09221	T	-0.537174	0.00348	T	-0.531416	0.19145	T	0.0974352649828437	0.12072	T	0.665633	0.27494	T	0.677092	0.76812	0.5844975	0.75907	0.677092	0.76814	0.5844975	0.75908	-6.724	0.51991	T	.	.	0.144	0.31832	B	.;.	.;.	3.611633	0.51069	23.0	0.98460605800049295	0.41734	0.17022	0.19654	N	AEFDGI	0.077694	0.15659	N	-0.0972181323188493	0.37514	2.183617	-0.331202449396319	0.27097	1.501209	0.00147991741085891	0.08567	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.2	3.2	0.35826	5.548000	0.66963	.	.	0.665000	0.62972	0.908000	0.31627	0.670000	0.26062	0.013000	0.09966	1.0:0.0:0.0:0.0	9.723	0.39484	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2521.98	38	chr3	98283014	.	A	G	2521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.260;DP=1556;ExcessHet=0.0000;FS=0.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=0.122;SOR=0.683	GT:AD:DP:GQ:PL	0/1:136,109:245:99:2536,0,3386	20	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.217	B	0.064	B	0.130	N	1.000	N	0.69	N	2.23	T	-0.991	T	0.069	T	0.165	-0.071	3.653	-1.84	-0.269	-0.189	9.015	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4048	2827.45	43	chr3	100775333	.	T	C	2827.45	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-7.940e-01;DP=858;ExcessHet=25.1139;FS=205.111;InbreedingCoeff=-0.6641;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.20;ReadPosRankSum=0.283;SOR=11.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,12:48:67:.:.:67,0,651	4	0	17	0
chr3	109069732	109069732	C	T	exonic	MORC1	.	nonsynonymous SNV	MORC1:NM_014429:exon9:c.G715A:p.A239T,	.	.	432	1089	1	0	0	1	0.000458926	.	.	3453852	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.996	D	0.000	D	1.000	D	3.105	M	-0.76	T	0.359	D	0.639	D	0.81	4.828	27.4	4.93	2.714	4.793	16.029	0.577	0.0926760500228	.	.	8.254e-06	0	8.672e-05	0	0	0	0	0	6.5e-06	1	154602	rs764997031	2.745e-06	2.736e-06	1.365e-06	4.138e-06	4.671e-05	6.4e-07	4.3e-07	1.59e-05	9.35e-06	0	0	0	0	0	0	0	0	4.671e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.0	0.92824	D	0.936	0.52359	P	0.903	0.64103	P	0.000194	0.48115	D	0.000000	0.999878	0.50225	D	2.925	0.84406	M	-0.76	0.73417	T	-3.73	0.70920	D	0.656	0.70000	0.359	0.88471	D	0.639	0.87383	D	10	0.8069637	0.80024	D	0.092676	0.75935	D	0.577	0.82912	0.432	0.48171	0.916894380365	0.91605	0.8407779912869563	0.84037	0.655275449907	0.58575	0.457243800163	0.32933	T	0.519186	0.83153	D	0.130757	0.67435	D	0.0506773	0.73628	D	0.980665981769562	0.73482	D	0.985801	0.95194	D	0.35183078	0.57209	0.3267241	0.58576	0.35183078	0.57209	0.3267241	0.58576	-7.563	0.58422	D	.	.	0.155	0.38025	B	.;.	.;.	4.516458	0.70779	25.6	0.99912965766637074	0.98167	0.93505	0.58400	D	AEFBI	0.509988	0.53922	D	0.801185165087113	0.86181	8.803491	0.734275130287393	0.84979	8.445459	0.999992803729126	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	4.979000	0.63525	7.394000	0.58531	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	16.029	0.80362	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1193.98	41	chr3	109069732	.	C	T	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.037;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-1.571e+00;SOR=0.706	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1208,0,1253	20	0	1	0
chr3	113657270	113657272	TGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4412del:p.Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/4:0,39,0,0,36,2:77:99:3049,1559,1521,3048,1560,3069,3048,1560,3069,3069,1489,0,1510,1510,1377,2861,1363,2882,2882,1423,2872	0	4	0	0
chr3	113657267	113657272	TGCTGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4415del:p.Q1477_Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/4:0,39,0,0,36,2:77:99:3049,1559,1521,3048,1560,3069,3048,1560,3069,3069,1489,0,1510,1510,1377,2861,1363,2882,2882,1423,2872	0	4	0	0
chr3	113657272	113657272	-	TGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCA:p.Q1478_A1479insQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/4:0,39,0,0,36,2:77:99:3049,1559,1521,3048,1560,3069,3048,1560,3069,3069,1489,0,1510,1510,1377,2861,1363,2882,2882,1423,2872	0	4	0	0
chr3	113657272	113657272	-	TGCTGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCAGCA:p.Q1478_A1479insQQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/4:0,39,0,0,36,2:77:99:3049,1559,1521,3048,1560,3069,3048,1560,3069,3069,1489,0,1510,1510,1377,2861,1363,2882,2882,1423,2872	0	4	0	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.003	B	0.006	B	0.408	N	1.000	N	1.39	L	2.45	T	-1.002	T	0.036	T	0.11	-1.422	0.021	-1.89	-0.182	-1.460	2.032	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4118	1321.45	117	chr3	121697608	.	C	T	1321.45	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-2.821e+00;DP=2409;ExcessHet=14.4320;FS=218.851;InbreedingCoeff=-0.6164;MLEAC=16;MLEAF=0.471;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=0.342;SOR=12.895	GT:AD:DP:GQ:PL	0/1:81,34:121:54:54,0,1368	3	0	14	4
chr3	121719669	121719669	C	A	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256486:exon7:c.G748T:p.D250Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.943	D	0.004	N	0.952	D	2.045	M	2.31	T	-1.034	T	0.108	T	0.505	2.969	15.90	5.86	2.774	2.208	15.688	0.107	0.0163554636148	.	.	2.486e-05	0	0.0002	0	0	0	0.0011	0	1.94e-05	3	154602	rs757452116	4.803e-06	4.788e-06	2.731e-06	6.896e-06	5.84e-05	2e-06	1.28e-06	2.206e-05	1.439e-05	0	0	0	0	0	0	9.01e-07	1.661e-05	5.84e-05	6.572e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.006	0.63226	D	0.009	0.66756	D	1.0	0.90584	D	0.943	0.67921	D	0.004488	0.33689	N	0.206183	0.951533	0.37744	D	2.085	0.57729	M	2.31	0.16953	T	-2.69	0.62630	D	0.662	0.67132	-1.0336	0.19300	T	0.108	0.39270	T	10	0.57409984	0.65482	D	0.016355	0.37579	T	0.107	0.30369	0.316	0.29258	0.462721901306	0.45895	0.39564635080118365	0.39479	0.570962921086	0.53239	0.553746640682	0.46385	T	0.062452	0.31919	T	-0.267034	0.12090	T	-0.384684	0.35173	T	0.631497927131454	0.37680	D	0.877412	0.59551	D	0.28463188	0.51489	0.21146107	0.45575	0.28463188	0.51489	0.21146107	0.45574	-6.861	0.56529	T	.	.	0.371	0.57866	A	.;.	.;.	4.671639	0.74675	26.2	0.98426443217967341	0.41343	0.91698	0.54074	D	AEFDGBI	0.285297	0.39795	N	0.659327093264592	0.76972	6.586227	0.652916332524011	0.78827	6.955	0.99999867636585	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	2.412000	0.44263	7.550000	0.60255	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	15.688	0.77182	442	0.79946	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1727.98	33	chr3	121719669	.	C	A	1727.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.340e-01;DP=841;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=0.461;SOR=0.696	GT:AD:DP:GQ:PL	0/1:79,73:152:99:1742,0,1887	20	0	1	0
chr3	122703808	122703808	C	T	exonic	PARP14	.	nonsynonymous SNV	PARP14:NM_017554:exon7:c.C3148T:p.L1050F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.483	P	0.28	B	0.137	N	0.770	D	1.355	L	1.75	T	-1.037	T	0.042	T	0.162	0.972	8.968	-2.45	-0.308	-0.670	4.902	0.041	0.00931352590817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.19090	T	0.11	0.37310	T	0.483	0.36807	P	0.28	0.40294	B	0.137300	0.18418	N	0.477166	0.770379	0.34144	D	2.1	0.58353	M	1.75	0.26152	T	-2.42	0.53096	N	0.379	0.42050	-1.0374	0.18109	T	0.042	0.18160	T	10	0.124869645	0.23722	T	0.009314	0.24436	T	0.041	0.10877	0.62	0.75461	0.325263233342	0.32141	0.7005462941829526	0.69995	0.281082333658	0.30582	0.315888136625	0.12798	T	0.066202	0.32886	T	-0.240462	0.15289	T	-0.583184	0.14261	T	0.0645118252895291	0.07859	T	0.689031	0.29821	T	0.17443798	0.38248	0.13000214	0.31247	0.17443798	0.38248	0.13000214	0.31246	-7.71	0.59077	D	.	.	0.189	0.40746	B	.	.	1.271228	0.16702	12.71	0.97904306930612373	0.36766	0.09887	0.15539	N	AEFBCI	0.062287	0.11963	N	-0.86056323138306	0.11791	0.570989	-0.950751675013113	0.10905	0.5522981	0.991033208911203	0.32351	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	-2.45	0.06107	-0.565000	0.06020	-2.279000	0.03958	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.425000	0.27339	0.43:0.3284:0.0:0.2416	4.902	0.13135	852	0.35056	Macro domain|Macro domain|Macro domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1472.98	38	chr3	122703808	.	C	T	1472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=842;ExcessHet=0.0000;FS=1.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.740;SOR=0.517	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1487,0,1576	20	0	1	0
chr3	129533669	129533669	C	T	exonic	RHO	.	nonsynonymous SNV	RHO:NM_000539:exon5:c.C998T:p.A333V,	Night blindness, congenital stationary, autosomal dominant 1;Retinitis pigmentosa 4, autosomal dominant or recessive, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1584851	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.0	B	0.0	B	0.001	D	0.974	D	0.6	N	1.2	T	-1.098	T	0.064	T	0.425	2.575	14.57	4.3	1.167	0.967	15.450	0.116	0.14850341924	.	.	0.0001	0	0.0002	0	0	3.003e-05	0.0011	0.0007	0.0001035	16	154602	rs760792843	3.968e-05	3.967e-05	1.225e-05	6.738e-05	0.0006	3.113e-05	2.847e-05	0.0005	0.0005	0	0	0	0	0	0	2.698e-06	0	0.0006	2.627e-05	2.625e-05	1.285e-05	4.03e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.011e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.151	0.24564	T	0.315	0.19421	T	0.0	0.02946	B	0.0	0.01387	B	0.000554	0.43413	D	0.227900	0.973808	0.39053	D	0.035	0.08059	N	1.2	0.37405	T	-0.61	0.18042	N	0.03	0.00717	-1.0978	0.04367	T	0.064	0.26632	T	10	0.031240612	0.01257	T	0.148503	0.83041	D	0.116	0.32463	0.267	0.21418	0.62478398535	0.62173	0.6335245147686495	0.63286	0.23281924886	0.25818	0.33363083005	0.15482	T	0.372513	0.73668	T	-0.374564	0.03369	T	-0.396317	0.33812	T	0.0698098997465096	0.08625	T	0.882812	0.60417	D	0.17720231	0.38673	0.240196	0.49388	0.17720231	0.38673	0.240196	0.49387	-8.23	0.62627	D	.	.	0.102	0.17869	B	.	.	1.852331	0.23531	16.05	0.99575593341443169	0.72682	0.39308	0.26184	N	AEFBI	0.209424	0.33541	N	-0.478999468250493	0.22771	1.218174	-0.353044172191121	0.26414	1.458874	0.999995961814473	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.18	4.3	0.50540	1.369000	0.33832	1.947000	0.29863	0.599000	0.40250	0.019000	0.19563	1.000000	0.68203	0.701000	0.34172	0.0:0.8521:0.1478:0.0	15.450	0.74993	511	0.75131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2197.98	34	chr3	129533669	.	C	T	2197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.283e+00;DP=925;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=-2.644e+00;SOR=0.717	GT:AD:DP:GQ:PL	0/1:114,94:208:99:2212,0,2967	20	0	1	0
chr3	129547417	129547417	G	A	exonic	H1-8	.	nonsynonymous SNV	H1-8:NM_153833:exon2:c.G115A:p.G39R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.271	B	0.073	B	0.054	N	1.000	N	0.695	N	0.93	T	-1.074	T	0.061	T	0.141	1.177	9.786	-0.86	-0.180	-0.027	0.324	0.052	0.011049000587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	0.07235	T	0.526	0.10245	T	0.271	0.31796	B	0.073	0.28123	B	0.053864	0.02055	N	2.808710	1	0.08975	N	0	0.06538	N	0.93	0.44065	T	0.56	0.02680	N	0.101	0.08366	-1.0737	0.08619	T	0.061	0.25492	T	10	0.04049161	0.02622	T	0.011049	0.28270	T	0.052	0.14661	0.189	0.09907	0.134241683229	0.13084	0.3688756663700294	0.36801	0.0664251731897	0.07407	0.460333019495	0.33356	T	0.027348	0.20046	T	-0.29333	0.09304	T	-0.659125	0.08325	T	0.116801382502882	0.14114	T	0.310069	0.06017	T	0.03421154	0.03795	0.051912967	0.08450	0.03421154	0.03794	0.051912967	0.08450	-3.137	0.11726	T	.	.	0.144	0.31808	B	.	.	0.007997	0.04336	1.105	0.8768098372509604	0.17404	0.00710	0.03005	N	AEFDI	0.032018	0.03537	N	-1.10869240173283	0.06487	0.2987872	-1.22504100536658	0.05510	0.2627332	0.964561030649586	0.28769	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	2.33	-0.86	0.10140	0.221000	0.17463	-0.948000	0.06824	0.098000	0.17617	0.003000	0.16062	0.000000	0.08366	0.008000	0.08271	0.2763:0.203:0.3154:0.2054	0.324	0.00286	514	0.74853	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	58.84	39	chr3	129547417	.	G	A	58.84	.	AC=2;AF=0.200;AN=10;BaseQRankSum=-8.070e-01;DP=656;ExcessHet=0.1128;FS=2.520;InbreedingCoeff=-0.3113;MLEAC=4;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=1.47;ReadPosRankSum=2.33;SOR=1.244	GT:AD:DP:GQ:PL	0/1:13,2:15:15:15,0,409	3	0	2	16
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.724	D	2.525	M	-6.28	D	1.094	D	0.984	D	0.964	2.130	13.08	5.29	2.648	4.837	14.806	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,18,0,0:56:99:0|1:130421335_G_A:396,0,1411,510,1464,1974,510,1464,1974,1974:130421335	0	0	4	6
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	0.511	D	2.525	M	-6.27	D	1.074	D	0.984	D	0.872	2.027	12.73	5.29	2.648	4.837	14.806	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,18,0,0:56:99:0|1:130421335_G_A:396,0,1411,510,1464,1974,510,1464,1974,1974:130421335	0	0	4	6
chr3	130421335	130421335	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,18,0,0:56:99:0|1:130421335_G_A:396,0,1411,510,1464,1974,510,1464,1974,1974:130421335	0	0	4	6
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.916	P	0.583	P	.	.	0.994	N	2.525	M	-3.16	D	-0.023	T	0.759	D	0.237	2.052	12.82	1.49	0.394	1.106	3.899	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,18,0:56:99:0|1:130421335_G_A:396,0,1411,510,1464,1974:130421335	0	0	14	6
chr3	130421337	130421337	T	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,18,0:56:99:0|1:130421335_G_A:396,0,1411,510,1464,1974:130421335	0	0	14	6
chr3	130421338	130421338	-	CACC	exonic	COL6A5	.	frameshift insertion	COL6A5:NM_001278298:exon27:c.5015_5016insCACC:p.P1673Tfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	2256.56	51	chr3	130421338	.	T	C,TCACC	2256.56	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-1.635e+00;DP=1199;ExcessHet=7.7275;FS=148.515;InbreedingCoeff=-0.4684;MLEAC=12,1;MLEAF=0.353,0.029;MQ=60.00;MQRankSum=0.00;QD=3.34;ReadPosRankSum=0.071;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,18,0:56:99:0|1:130421335_G_A:396,0,1411,510,1464,1974:130421335	6	0	10	4
chr3	133777188	133777188	G	A	exonic	TF	.	nonsynonymous SNV	TF:NM_001354704:exon15:c.G1631A:p.G544E	Atransferrinemia, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	27655	not_provided|not_specified|TF-related_disorder|Atransferrinemia|Transferrin_variant_B2	MedGen:C3661900|MedGen:CN169374|.|Human_Phenotype_Ontology:HP:0012239,MONDO:MONDO:0008846,MedGen:C0521802,OMIM:209300,Orphanet:1195|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	A	4.135	H	0.94	T	0.042	D	0.340	T	0.856	3.987	20.4	5.46	2.847	5.636	16.328	0.386	0.0907658880166	0.0037	0.00179712	0.0025	0.0014	0.0023	0	0.0008	0.0037	0.0011	0.0004	0.0028137	435	154602	rs121918677	0.0039	0.0040	0.0040	0.0039	0.0049	0.0039	0.0038	0.0047	0.0047	0.0007	0.0020	0.0006	2.519e-05	0.0008	0.0002	0.0049	0.0029	0.0003	0.0029	0.0029	0.0033	0.0026	0.0051	0.0027	0.0026	0.0046	0.0045	0.0010	0.0175	0.0018	0.0020	0	0.0009	0.0034	0.0051	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	D	0.108637	0.999999	0.81001	A	4.45	0.98819	H	0.94	0.43672	T	-6.85	0.93097	D	0.625	0.63968	0.042	0.83080	D	0.340	0.70600	T	9	0.01994747	0.00452	T	0.090766	0.75580	D	0.386	0.70276	.	.	0.864093604746	0.86278	0.8328172867685449	0.83240	1.24056810101	0.81556	0.538030028343	0.44168	T	0.41875	0.77099	T	-0.117032	0.33611	T	0.0635406	0.74479	D	0.15387307904342	0.17408	T	0.946705	0.79569	D	0.94268596	0.95521	0.909482	0.95652	0.94758284	0.96020	0.9281765	0.96969	-9.534	0.71070	D	0.8508024073670438	0.91699	0.774	0.76107	P	.	.	5.125082	0.85741	28.7	0.99692900305673782	0.80044	0.95906	0.66665	D	AEFDBHCI	0.942817	0.94787	D	0.968827136500522	0.94703	12.969	0.858226409787106	0.93487	12.07555	0.999999999953318	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.46	5.46	0.80021	5.209000	0.65041	11.831000	0.97525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.282000	0.24066	0.0:0.0:1.0:0.0	16.328	0.82826	875	0.30485	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	970.98	36	chr3	133777188	.	G	A	970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=796;ExcessHet=0.0000;FS=0.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.07;ReadPosRankSum=-7.700e-02;SOR=0.609	GT:AD:DP:GQ:PL	0/1:65,42:107:99:985,0,1546	20	0	1	0
chr3	148994180	148994180	G	A	exonic	GYG1	.	nonsynonymous SNV	GYG1:NM_001184720:exon2:c.G46A:p.A16T	Polyglucosan body myopathy 2, Autosomal recessive	.	0	1505	16	1	0	18	0.00594452	.	.	1630958	not_provided|Inborn_genetic_diseases|Polyglucosan_body_myopathy_type_2|Glycogen_storage_disease_XV	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014526,MedGen:C4015452,OMIM:616199,Orphanet:456369|MONDO:MONDO:0013291,MedGen:C3150754,OMIM:613507,Orphanet:263297	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.674	P	0.182	B	0.000	D	1.000	D	1.85	L	0.85	T	-0.852	T	0.141	T	0.476	3.914	19.90	5.29	2.466	6.292	18.942	0.125	0.0189551669034	.	0.000798722	0.0009	9.632e-05	0.0006	0	0	4.504e-05	0	0.0063	0.0007762	120	154602	rs200947378	0.0005	0.0005	0.0003	0.0007	0.0071	0.0005	0.0004	0.0066	0.0064	8.962e-05	4.472e-05	0	0	0	0.0021	4.407e-05	0.0006	0.0071	0.0002	0.0002	5.15e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	2.417e-05	0	0	0	0	0	0	4.414e-05	0	0.0052	0.086	0.34621	T	0.066	0.48080	T	0.14	0.41239	B	0.039	0.35926	B	0.000007	0.62929	D	0.109289	1	0.81001	D	2.55	0.74443	M	0.85	0.47130	T	-1.7	0.40468	N	0.414	0.45803	-0.8518	0.51844	T	0.141	0.46054	T	10	0.01212883	0.00262	T	0.018955	0.41188	T	0.125	0.34456	0.607	0.73945	0.656629922374	0.65376	0.554284495195052	0.55355	0.105508220992	0.11931	0.639343380928	0.58471	T	0.251625	0.62190	T	-0.372465	0.03471	T	-0.304768	0.44219	T	0.0903793995208192	0.11263	T	0.768423	0.39947	T	0.45805606	0.64550	0.3739901	0.62575	0.539859	0.69390	0.3447308	0.60165	-5.834	0.46036	T	0.2348835315590937	0.31801	0.158	0.35013	B	.;.;.;.;.;.	.;.;.;.;.;.	3.692126	0.52612	23.3	0.99801614418373552	0.88639	0.95900	0.66639	D	AEFGBCI	0.844488	0.76145	D	0.283108905397718	0.55290	3.693315	0.404740604957056	0.61858	4.392114	0.999999999999998	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	6.403000	0.73186	6.629000	0.56146	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.0:1.0:0.0	18.942	0.92584	906	0.23090	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1705.11	34	chr3	148994180	.	G	A	1705.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=6.000e-03;DP=858;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=2.02;SOR=0.712	GT:AD:DP:GQ:PL	0/1:68,51:119:99:991,0,1645	19	0	2	0
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.924	5.278	33	5.57	2.788	7.646	19.982	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:73,17,21:111:71:.:.:385,71,2113,0,1981,2045	6	0	2	4
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.955	4.886	28.0	5.57	2.788	7.646	19.982	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:73,17,21:111:71:.:.:385,71,2113,0,1981,2045	6	0	2	4
chr3	167627286	167627286	G	C	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001348951:exon3:c.C172G:p.Q58E	.	.	435	1061	25	1	0	27	0.012564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.0	B	0.0	B	.	.	1.000	D	.	.	1.01	T	-1.094	T	0.016	T	0.005	0.553	6.994	5.1	1.287	3.412	14.996	0.125	.	.	0.0135783	0.0012	0.0159	0	0	0	0	0	0.025	0.0009508	147	154602	rs77319753	0.0014	0.0014	0.0014	0.0015	0.0269	0.0014	0.0014	0.0252	0.0245	0.0269	0.0032	0	7.53e-05	9.303e-05	0.0090	0.0004	0.0041	0.0141	0.0085	0.0085	0.0084	0.0085	0.0262	0.0081	0.0079	0.0250	0.0244	0.0262	0.0022	0.0037	0	0.0012	0	0.0068	0.0008	0.0071	0.0127	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	1.01	0.41058	T	0.51	0.02898	N	0.048	0.01999	-1.0941	0.04884	T	0.016	0.06425	T	8	0.0038439333	0.00073	T	.	.	.	0.125	0.34456	.	.	0.144782658237	0.14088	.	.	.	.	.	.	.	.	.	.	-0.674961	0.00051	T	-0.723387	0.04633	T	0.00859171539074002	0.00105	T	0.174383	0.01678	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.00142	B	.;.	.;.	1.165256	0.15545	11.93	0.79373966206559421	0.12713	0.01533	0.05044	N	AEFI	0.056392	0.10421	N	-0.676723383152416	0.16687	0.8523274	-0.584740273411319	0.19891	1.069224	0.0113295462184001	0.12167	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	3.438000	0.52634	3.927000	0.40510	-0.174000	0.10959	1.000000	0.71638	1.000000	0.68203	0.275000	0.23893	0.0:0.8562:0.1438:0.0	14.996	0.71087	805	0.43675	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3094.11	33	chr3	167627286	.	G	C	3094.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.64;DP=878;ExcessHet=0.1072;FS=0.539;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.53;ReadPosRankSum=0.936;SOR=0.622	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1523,0,1715	19	0	2	0
chr3	170390318	170390318	G	A	exonic	SKIL	.	nonsynonymous SNV	SKIL:NM_001145097:exon4:c.G1387A:p.V463I	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.022	B	0.036	B	0.436	N	1.000	N	0	N	-2.73	D	-0.514	T	0.493	T	0.085	0.914	8.722	5.66	2.838	2.188	12.614	0.239	.	.	0.00858626	0.0060	9.614e-05	0.0003	0.0001	0	1.498e-05	0.0033	0.0434	0.005084	786	154602	rs555227200	0.0026	0.0026	0.0014	0.0039	0.0423	0.0026	0.0025	0.0412	0.0407	8.961e-05	6.708e-05	0	7.558e-05	0	0.0026	9.892e-06	0.0025	0.0423	0.0014	0.0014	0.0007	0.0022	0.0439	0.0013	0.0012	0.0391	0.0372	9.633e-05	0	6.543e-05	0	0	0	0.0034	2.941e-05	0	0.0439	0.227	0.52492	T	0.459	0.13103	T	0.008	0.18677	B	0.022	0.22909	B	0.436475	0.12682	N	0.764973	1	0.08975	N	0	0.06538	N	-2.74	0.90735	D	-0.23	0.10656	N	0.086	0.10483	-0.5143	0.68128	T	0.493	0.80757	T	10	0.0030667186	0.00051	T	.	.	.	0.239	0.54358	0.4	0.42917	0.826835386655	0.82519	0.04690176099306565	0.04633	0.149256190456	0.16829	0.295313179493	0.09703	T	0.274296	0.64678	T	-0.429866	0.01485	T	-0.357392	0.38353	T	0.0300697229585	0.02001	T	0.657134	0.27986	T	0.03594847	0.04328	0.043122385	0.05293	0.03594847	0.04328	0.043122385	0.05293	-4.403	0.31084	T	.	.	0.087	0.16363	B	.;.;.;.	.;.;.;.	1.545064	0.19810	14.45	0.92811412567743035	0.22337	0.19403	0.20647	N	AEFBI	0.056160	0.10360	N	-0.630599898754659	0.18030	0.9327873	-0.542562058118746	0.21003	1.134198	0.980502808707806	0.30144	0.706548	0.73137	0	0.614415	0.52539	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	2.254000	0.42868	8.501000	0.77359	0.604000	0.46097	0.028000	0.20300	1.000000	0.68203	0.006000	0.07323	0.0763:0.0:0.9237:0.0	12.614	0.55923	845	0.36510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1484.98	34	chr3	170390318	.	G	A	1484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.271e+00;DP=791;ExcessHet=0.0000;FS=1.520;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-6.340e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/1:53,62:115:99:1499,0,1441	20	0	1	0
chr3	172633486	172633486	G	C	exonic	NCEH1	.	nonsynonymous SNV	NCEH1:NM_001146278:exon4:c.C817G:p.Q273E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.006	B	0.330	N	0.984	N	-0.965	N	0.47	T	-1.039	T	0.052	T	0.15	-2.187	0.005	3.09	0.358	-0.133	13.269	0.083	0.00630731294736	.	0.000199681	2.527e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs529279009	1.3e-05	1.3e-05	9.532e-06	1.651e-05	0.0002	8.32e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0.0002	0	0	0.0002	6.57e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.330241	0.14126	N	0.705695	0.98405	0.24834	N	.	.	.	0.47	0.56114	T	1.12	0.01297	N	0.056	0.04307	-1.0388	0.17678	T	0.052	0.22076	T	10	0.026589513	0.00822	T	0.006307	0.16580	T	0.083	0.24192	.	.	0.346315397577	0.34243	0.542419000083535	0.54166	0.370578501582	0.38572	0.274562954903	0.06745	T	0.020632	0.16209	T	-0.412533	0.01913	T	-0.538203	0.18474	T	0.0185841137795435	0.00573	T	0.724828	0.37065	T	.	.	.	.	.	.	.	.	-2.976	0.09925	T	.	.	0.059	0.00861	B	.;.;.	.;.;.	0.330877	0.07050	3.613	0.11949088186527559	0.00194	0.59547	0.30945	D	AEFBI	0.114574	0.22561	N	-1.10691480924843	0.06519	0.3003208	-0.891354302889135	0.12299	0.6318017	0.179374892368713	0.17849	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.01	3.09	0.34677	0.043000	0.13855	3.860000	0.40132	-0.244000	0.07312	0.954000	0.33273	1.000000	0.68203	0.053000	0.15439	0.0:0.4713:0.4164:0.1123	13.269	0.59583	729	0.54495	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1222.98	35	chr3	172633486	.	G	C	1222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.311e+00;DP=779;ExcessHet=0.0000;FS=1.826;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=0.591;SOR=1.009	GT:AD:DP:GQ:PL	0/1:40,48:88:99:1237,0,1046	20	0	1	0
chr3	179240022	179240022	T	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_001163677:exon4:c.A496G:p.T166A,	.	.	763	722	33	4	0	41	0.0276094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.899	P	0.395	B	.	.	1.000	D	0	N	2.26	T	-1.014	T	0.024	T	0.203	2.513	14.36	4.35	1.922	2.333	11.973	0.061	.	0.0035	0.00698882	0.0188	0	0.0122	0.0032	0.0006	0.0105	0	0.0389	0.0034088	527	154602	rs184550595	0.0073	0.0071	0.0063	0.0084	0.0414	0.0072	0.0072	0.0402	0.0397	0.0008	0.0041	0.0289	0.0003	0.0011	0.0301	0.0050	0.0094	0.0414	0.0056	0.0056	0.0049	0.0064	0.0441	0.0053	0.0052	0.0393	0.0374	0.0013	0	0.0071	0.0326	0.0004	0.0011	0.0170	0.0047	0.0133	0.0441	0.157	0.23997	T	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	0.99799	0.81001	N	.	.	.	2.26	0.17596	T	-0.81	0.22294	N	0.111	0.09772	-1.0142	0.25593	T	0.024	0.10374	T	9	0.0035863519	0.00065	T	.	.	.	0.061	0.17616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562205	0.00246	T	-0.551777	0.17155	T	0.012226413319391	0.00197	T	0.29997	0.05606	T	.	.	.	.	.	.	.	.	-3.779	0.20491	T	.	.	0.137	0.29941	B	.	.	1.620727	0.20700	14.87	0.9940360828791398	0.62934	0.83452	0.42568	D	AEFGI	0.206643	0.33289	N	-0.0184429246067715	0.41021	2.446306	0.0663263132403697	0.42868	2.60055	0.677897955158269	0.22446	0.643511	0.44296	0	0.688494	0.66719	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.35	4.35	0.51454	3.584000	0.53680	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	11.973	0.52364	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2702.68	37	chr3	179240022	.	T	C	2702.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.814;DP=872;ExcessHet=0.3300;FS=3.961;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.38;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.251;SOR=0.482	GT:AD:DP:GQ:PL	0/1:36,29:65:99:735,0,958	18	0	3	0
chr3	191380871	191380871	A	G	exonic	CCDC50	.	nonsynonymous SNV	CCDC50:NM_174908:exon8:c.A653G:p.K218R	.	.	1	1468	50	3	0	56	0.0187166	.	.	173908	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.75	T	0.705	P	0.439	B	0.000	D	0.654	N	1.7	L	1.54	T	-1.010	T	0.096	T	0.429	3.138	16.49	5.7	2.168	3.980	12.366	0.092	.	0.0035	0.00499201	0.0065	0.0011	0.0016	0	0.0002	0.0050	0.0101	0.0252	0.0061901	957	154602	rs114502673	0.0065	0.0065	0.0057	0.0073	0.0258	0.0064	0.0063	0.0249	0.0245	0.0007	0.0016	0.0058	0.0001	0.0004	0.0106	0.0059	0.0065	0.0258	0.0038	0.0039	0.0040	0.0037	0.0230	0.0036	0.0035	0.0195	0.0182	0.0009	0.0066	0.0018	0.0049	0	9.413e-05	0.0068	0.0056	0.0038	0.0230	.	.	.	.	.	.	0.705	0.41986	P	0.439	0.45685	B	0.000050	0.53742	D	0.132805	0.653512	0.30512	N	2.225	0.63025	M	.	.	.	.	.	.	.	.	-1.0102	0.26854	T	0.096	0.36159	T	10	0.006295413	0.00142	T	.	.	.	0.092	0.26621	.	.	0.394837016283	0.39092	0.018683176227404726	0.01822	0.45893775672	0.45492	0.605645656586	0.53701	T	0.005	0.04113	T	-0.427499	0.01535	T	-0.368595	0.37053	T	0.0189041882867734	0.00600	T	0.80202	0.45053	T	0.11414416	0.26949	0.0980237	0.23354	0.11414416	0.26949	0.0980237	0.23354	-7.596	0.58283	D	0.12031312152752395	0.11301	0.088	0.11654	B	.;.	.;.	3.501968	0.48999	22.7	0.99859256809670549	0.93820	0.91605	0.53878	D	AEFBI	0.620857	0.60576	D	0.0902555239688302	0.46009	2.84803	0.217124440906525	0.50797	3.268055	0.999999986345712	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	3.090000	0.49888	5.306000	0.48250	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	12.366	0.54558	971	0.05719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	372.98	33	chr3	191380871	.	A	G	372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=756;ExcessHet=0.0000;FS=2.733;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=-1.467e+00;SOR=1.150	GT:AD:DP:GQ:PL	0/1:34,16:50:99:387,0,839	20	0	1	0
chr3	195226828	195226828	G	A	exonic	XXYLT1	.	nonsynonymous SNV	XXYLT1:NM_001308069:exon2:c.C95T:p.T32M	.	.	.	.	.	.	.	.	.	.	.	2361911	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.989	D	0.000	D	1.000	D	0.895	L	1.94	T	-1.071	T	0.092	T	0.814	3.224	16.80	4.61	2.491	7.746	17.325	0.275	0.0730530561351	8e-05	0.000199681	0.0003	0	0.0003	0.0001	0	9.069e-05	0	0.0012	0.0002005	31	154602	rs201345395	0.0002	0.0002	0.0002	0.0003	0.0013	0.0002	0.0002	0.0011	0.0010	2.987e-05	0.0001	0	0	0	0	0.0002	0.0001	0.0013	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	8.735e-05	0.0003	0.0002	7.245e-05	0	6.556e-05	0	0.0002	0	0	0.0002	0	0.0008	0.003	0.68238	D	0.009	0.66756	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.049690	1	0.81001	D	2.08	0.57402	M	1.94	0.22678	T	-2.8	0.59226	D	0.772	0.79022	-1.0707	0.09260	T	0.092	0.35119	T	10	0.2741147	0.44964	T	0.073053	0.71690	D	0.275	0.59130	.	.	0.166414681773	0.16258	0.6545145458341753	0.65387	1.4176628768	0.85560	0.826894760132	0.86086	D	0.024403	0.24656	T	-0.185391	0.22936	T	-0.0796105	0.64933	T	0.269157439470291	0.23711	T	0.927207	0.73169	D	0.3243168	0.55002	0.3051823	0.56546	0.3243168	0.55002	0.3051823	0.56545	-9.839	0.72942	D	.	.	0.219	0.44923	B	.;.	.;.	4.745459	0.76578	26.5	0.99871465090002087	0.94902	0.94402	0.61051	D	AEFGBCI	0.850009	0.76683	D	0.460528063903487	0.64804	4.743219	0.420232810467616	0.62826	4.504836	0.999999999999996	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.61	4.61	0.56724	7.843000	0.85133	8.451000	0.77220	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.099000	0.18236	0.0:0.0:1.0:0.0	17.325	0.87131	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1390.98	35	chr3	195226828	.	G	A	1390.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.500e-01;DP=804;ExcessHet=0.0000;FS=0.731;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-1.144e+00;SOR=0.810	GT:AD:DP:GQ:PL	0/1:49,57:106:99:1405,0,1155	20	0	1	0
chr3	195725046	195725046	G	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.G443T:p.S148I	.	.	437	1047	37	1	0	39	0.0182841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.992	D	0.000	D	1.000	N	1.15	L	2.26	T	-0.874	T	0.115	T	0.673	2.661	14.86	3.63	1.225	2.223	8.898	0.161	0.0218980790304	.	.	8.293e-06	0.0001	0	0	0	0	0	0	0.0026894	70	26028	rs369019587	0.0003	0.0024	0.0003	0.0003	0.0063	0.0003	0.0003	0.0056	0.0053	0.0063	0.0005	0.0002	0.0004	0.0002	0.0016	6.594e-05	0.0003	0.0010	0.0010	0.0073	0.0009	0.0012	0.0016	0.0009	0.0008	0.0009	0.0008	0.0008	0.0012	0.0011	0.0006	0.0011	0.0015	0	0.0011	0	0.0016	0.021	0.50132	D	0.015	0.61642	D	1.0	0.90584	D	0.992	0.80445	D	0.000069	0.52346	D	0.000000	1	0.81001	D	1.895	0.50365	L	2.11	0.27486	T	-2.07	0.78046	N	0.511	0.60241	-0.8738	0.50241	T	0.115	0.40740	T	10	0.009695768	0.00218	T	0.021898	0.44729	T	0.161	0.41658	0.375	0.38830	0.0401082797425	0.02173	0.38443668743494736	0.38358	.	.	0.296985238791	0.09953	T	0.051845	0.48691	T	-0.0104339	0.50204	T	-0.252764	0.49543	T	0.0180324871293138	0.00527	T	0.522848	0.17081	T	0.18034686	0.39151	0.17408364	0.39779	0.18034686	0.39151	0.17408364	0.39778	-3.878	0.21973	T	.	.	0.198	0.45593	B	.;.;.;.	.;.;.;.	3.182996	0.43212	21.7	0.99587376711661724	0.73395	0.85805	0.44979	D	AEFDI	0.070631	0.14029	N	0.31139379516342	0.56734	3.838514	0.253520388367582	0.52850	3.457138	0.00138654049803063	0.08495	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.52	3.63	0.40741	1.468000	0.34941	5.911000	0.51023	0.670000	0.69193	0.999000	0.42656	1.000000	0.68203	0.848000	0.40082	0.1045:0.0:0.8955:0.0	8.898	0.34636	851	0.35303	.;.;.;.	.	.	.	.	.	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	0.05263	370.56	155	chr3	195725046	.	G	T	370.56	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.05;DP=3216;ExcessHet=0.1128;FS=91.877;InbreedingCoeff=-0.0670;MLEAC=2;MLEAF=0.053;MQ=38.88;MQRankSum=-4.058e+00;QD=1.54;ReadPosRankSum=-2.877e+00;SOR=8.086	GT:AD:DP:GQ:PL	0/1:67,15:82:99:206,0,1564	17	0	2	2
chr3	195779036	195779036	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	73.76	280	chr3	195779036	.	T	*,G	73.76	.	AC=10,3;AF=0.333,0.100;AN=30;BaseQRankSum=-1.320e+00;DP=7021;ExcessHet=0.4264;FS=3.231;InbreedingCoeff=0.0544;MLEAC=13,4;MLEAF=0.433,0.133;MQ=54.24;MQRankSum=-3.656e+00;QD=0.02;ReadPosRankSum=-2.400e+00;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:11,252,12:275:45:.:.:8638,45,242,8419,0,8588	5	1	6	6
chr3	195779136	195779136	G	0	exonic	MUC4	.	.	.	.	.	440	961	82	1	38	122	0.0418744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	483.6	299	chr3	195779136	.	G	A,*	483.6	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=-1.404e+00;DP=6736;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0959;MLEAC=1,1;MLEAF=0.029,0.029;MQ=49.00;MQRankSum=-4.360e+00;QD=0.83;ReadPosRankSum=-6.603e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:408,43,0:451:99:0|1:195779134_A_C:496,0,16959,1724,17089,18813:195779134	15	0	1	4
chr3	195779779	195779779	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11801T:p.A3934V,	.	.	600	874	3	9	36	57	0.0118711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	B	0.0	B	.	.	0.974	N	0.55	N	1.42	T	-1.015	T	0.043	T	0.063	0.664	7.557	.	-0.535	0.207	.	0.018	0.00327910076655	.	.	6.677e-05	0	0	0	0.0009	0	0	0	.	.	.	rs112027608	0.0007	0.0022	0.0006	0.0008	0.0028	0.0007	0.0006	0.0022	0.0020	0.0002	0.0003	0.0014	0.0028	0.0041	0.0003	0.0005	0.0009	0.0006	5.906e-05	0.0003	0.0001	0	9.035e-05	2.326e-05	1.453e-05	1.979e-05	1.048e-05	9.035e-05	0	0	0	0	0	0	7.465e-05	0	0	0.423	0.09746	T	0.393	0.15746	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.25515	N	.	.	.	1.33	0.35031	T	-0.53	0.16393	N	0.035	0.01999	-1.0151	0.25304	T	0.043	0.18576	T	6	0.029459447	0.01072	T	0.003279	0.07268	T	0.018	0.03083	0.205	0.12076	0.0138822411134	0.00435	0.0017600896857898872	0.00163	.	.	0.509031713009	0.40087	T	.	.	.	-0.324223	0.06558	T	-0.703501	0.05636	T	0.0235782377466411	0.01093	T	0.686031	0.29438	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25331	B	.;.	.;.	0.060896	0.04720	1.352	0.93910929547238409	0.23946	0.00624	0.02752	N	AEFBI	0.059095	0.11135	N	-1.3016471889903	0.03657	0.1637367	-1.42224578363642	0.03030	0.1405921	1.54978405088282E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	1.321000	0.33283	0.221000	0.16075	0.178000	0.17791	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	.	.	.	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03333	99.5	193	chr3	195779779	.	G	A	99.5	.	AC=1;AF=0.033;AN=30;BaseQRankSum=1.15;DP=3665;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1084;MLEAC=1;MLEAF=0.033;MQ=37.54;MQRankSum=1.29;QD=12.44;ReadPosRankSum=0.319;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:99:0|1:195779726_G_A:111,0,154:195779726	14	0	1	6
chr3	195780043	195780043	G	0	exonic	MUC4	.	.	.	.	.	6	91	2	1	126	130	0.0215054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780043	.	G	A,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6744;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=57.07;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:10,0,205:215:99:.:.:8991,8301,8550,422,696,0	5	0	1	7
chr3	195780046	195780046	A	0	exonic	MUC4	.	.	.	.	.	13	85	2	1	125	129	0.0229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780046	.	A	C,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6719;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=56.80;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:10,0,205:215:99:.:.:8991,8301,8550,422,696,0	5	0	1	7
chr3	195780069	195780069	G	0	exonic	MUC4	.	.	.	.	.	10	98	2	0	116	118	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3462	2997.68	313	chr3	195780069	.	G	C,*	2997.68	.	AC=1,8;AF=0.038,0.308;AN=26;DP=6315;ExcessHet=0.1204;FS=0.000;InbreedingCoeff=0.0503;MLEAC=1,11;MLEAF=0.038,0.423;MQ=56.31;QD=1.57;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:10,0,205:215:99:.:.:8991,8301,8550,422,696,0	6	0	1	8
chr3	195780075	195780075	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1468.72	313	chr3	195780075	.	T	G,*	1468.72	.	AC=1,8;AF=0.029,0.235;AN=34;DP=6273;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.1606;MLEAC=1,9;MLEAF=0.029,0.265;MQ=56.27;QD=0.77;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:10,0,205:215:99:.:.:8991,8301,8550,422,696,0	10	0	1	4
chr3	195780092	195780092	C	0	exonic	MUC4	.	.	.	.	.	13	97	2	0	114	116	0.0102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3139.55	313	chr3	195780092	.	C	T,*	3139.55	.	AC=1,7;AF=0.042,0.292;AN=24;DP=6174;ExcessHet=0.0419;FS=4.756;InbreedingCoeff=0.0684;MLEAC=1,10;MLEAF=0.042,0.417;MQ=55.82;QD=2.32;SOR=0.437	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:10,0,205:215:99:.:.:8991,8301,8550,422,696,0	6	0	1	9
chr3	195780494	195780494	G	0	exonic	MUC4	.	.	.	.	.	694	424	90	25	289	429	0.1417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5548.65	401	chr3	195780494	.	G	*,A	5548.65	.	AC=7,1;AF=0.350,0.050;AN=20;BaseQRankSum=5.01;DP=8569;ExcessHet=1.8394;FS=1.262;InbreedingCoeff=0.0278;MLEAC=12,2;MLEAF=0.600,0.100;MQ=54.69;MQRankSum=-3.824e+00;QD=1.83;ReadPosRankSum=9.34;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,549,0:609:99:0|1:195780492_AGGGGTGGCCT_A:473,0,1890,651,2400,3051:195780492	3	1	5	11
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	55203.73	406	chr3	195780499	.	G	A,*	55203.73	.	AC=12,7;AF=0.300,0.175;AN=40;BaseQRankSum=-3.310e-01;DP=8546;ExcessHet=0.5442;FS=0.529;InbreedingCoeff=0.0726;MLEAC=12,7;MLEAF=0.300,0.175;MQ=54.22;MQRankSum=-2.440e-01;QD=9.13;ReadPosRankSum=-4.044e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:7,37,526:570:99:0|1:195780452_T_C:23064,1939,514,2384,0,1063:195780452	6	1	7	1
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	51505.37	393	chr3	195780501	.	C	*,G	51505.37	.	AC=7,10;AF=0.233,0.333;AN=30;BaseQRankSum=-5.880e-01;DP=8384;ExcessHet=0.9330;FS=0.000;InbreedingCoeff=0.1350;MLEAC=9,13;MLEAF=0.300,0.433;MQ=54.00;MQRankSum=-3.340e-01;QD=9.32;ReadPosRankSum=-1.345e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:4,526,33:563:99:1|0:195780492_AGGGGTGGCCT_A:23680,2353,962,2132,0,513:195780492	3	1	2	6
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	36875.28	349	chr3	195780510	.	G	A,*	36875.28	.	AC=9,5;AF=0.265,0.147;AN=34;BaseQRankSum=0.680;DP=8180;ExcessHet=0.1645;FS=1.137;InbreedingCoeff=0.2695;MLEAC=11,6;MLEAF=0.324,0.176;MQ=53.29;MQRankSum=3.36;QD=8.07;ReadPosRankSum=-2.570e+00;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:8,19,532:559:99:0|1:195780452_T_C:22720,1898,576,1534,0,264:195780452	7	2	3	4
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	22106.14	349	chr3	195780514	.	G	*,A	22106.14	.	AC=7,7;AF=0.233,0.233;AN=30;BaseQRankSum=0.605;DP=8615;ExcessHet=0.3357;FS=1.883;InbreedingCoeff=0.2178;MLEAC=9,9;MLEAF=0.300,0.300;MQ=53.69;MQRankSum=2.63;QD=4.78;ReadPosRankSum=-2.700e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:7,532,8:547:99:1|1:195780452_T_C:22783,1433,0,2182,134,685:195780452	5	1	3	6
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	5946.85	349	chr3	195780525	.	GTC	*,G	5946.85	.	AC=9,2;AF=0.321,0.071;AN=28;BaseQRankSum=-5.320e-01;DP=7947;ExcessHet=0.0073;FS=2.130;InbreedingCoeff=0.4634;MLEAC=13,3;MLEAF=0.464,0.107;MQ=52.96;MQRankSum=5.01;QD=1.90;ReadPosRankSum=1.98;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:13,532,0:545:99:1|1:195780452_T_C:22511,1180,0,2227,432,1005:195780452	7	3	3	7
chr3	195780526	195780529	TCCG	0	exonic	MUC4	.	.	.	.	.	603	642	21	1	255	278	0.0175976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	5700.23	349	chr3	195780526	.	TCCG	*,T	5700.23	.	AC=11,1;AF=0.423,0.038;AN=26;BaseQRankSum=2.59;DP=7969;ExcessHet=0.0661;FS=2.096;InbreedingCoeff=0.3651;MLEAC=16,1;MLEAF=0.615,0.038;MQ=52.99;MQRankSum=5.89;QD=1.65;ReadPosRankSum=2.36;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:13,532,0:545:99:1|1:195780452_T_C:22511,1180,0,13201,1649,12111:195780452	5	4	3	8
chr3	195780575	195780575	C	0	exonic	MUC4	.	.	.	.	.	839	407	22	0	254	276	0.0263158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	12264.56	349	chr3	195780575	.	C	*,T	12264.56	.	AC=6,1;AF=0.300,0.050;AN=20;BaseQRankSum=0.071;DP=7349;ExcessHet=6.0611;FS=0.558;InbreedingCoeff=-0.0832;MLEAC=10,2;MLEAF=0.500,0.100;MQ=51.21;MQRankSum=8.32;QD=3.68;ReadPosRankSum=3.24;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,532,0:616:99:0|1:195780452_T_C:20956,0,1880,1124,2377,3010:195780452	3	0	6	11
chr3	195780604	195780604	G	0	exonic	MUC4	.	.	.	.	.	455	714	336	0	17	353	0.190476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	49349.11	404	chr3	195780604	.	G	C,*	49349.11	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=1.02;DP=8148;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.5385;MLEAC=13,1;MLEAF=0.361,0.028;MQ=49.37;MQRankSum=2.50;QD=8.15;ReadPosRankSum=-1.380e-01;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:406,251,0:657:99:.:.:6262,0,12830,7479,13577,21056	5	0	12	3
chr3	195780620	195780620	C	0	exonic	MUC4	.	.	.	.	.	808	314	377	7	16	407	0.38371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	185617.17	454	chr3	195780620	.	C	T,*	185617.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.26;DP=8709;ExcessHet=23.1855;FS=1.891;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.79;MQRankSum=6.09;QD=25.34;ReadPosRankSum=-4.997e+00;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,597,0:740:99:0|1:195780620_C_T:23586,0,3815,24013,5579,29592:195780620	3	0	14	3
chr3	195780623	195780623	C	0	exonic	MUC4	.	.	.	.	.	801	322	379	4	16	403	0.375364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	180902.17	451	chr3	195780623	.	C	T,*	180902.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.87;DP=8655;ExcessHet=23.1855;FS=2.624;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.54;MQRankSum=5.61;QD=25.01;ReadPosRankSum=-4.462e+00;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,585,0:729:99:0|1:195780620_C_T:23103,0,3870,23534,5599,29132:195780620	3	0	14	3
chr3	195781134	195781134	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	33200.29	498	chr3	195781134	.	A	G,*	33200.29	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=6.18;DP=8525;ExcessHet=15.6281;FS=5.345;InbreedingCoeff=-0.5385;MLEAC=14,1;MLEAF=0.350,0.025;MQ=57.71;MQRankSum=-1.307e+01;QD=5.24;ReadPosRankSum=-7.680e-01;SOR=1.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:402,168,0:570:99:0|1:195781128_A_T:5537,0,16174,6880,16829,24563:195781128	6	0	13	1
chr3	195781149	195781154	GCTGGT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10426_10431del:p.T3476_S3477del	.	.	429	865	216	1	11	229	0.11191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0145	0	0	0.0029	0	0	0	0.0351	3.84e-05	1	26028	.	0.0025	0.0021	0.0015	0.0035	0.0389	0.0024	0.0023	0.0375	0.0369	0.0001	4.844e-05	0	7.76e-05	5.404e-05	0.0012	0.0002	0.0034	0.0389	0.0031	0.0027	0.0012	0.0050	0.0817	0.0026	0.0025	0.0699	0.0654	0.0003	0	0	0	0	0	0	0.0002	0.0017	0.0817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:414,0,110:524:99:1|0:195781128_A_T:3404,4617,21858,0,17216,16869:195781128	6	0	1	2
chr3	195781148	195781154	GGCTGGT	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:414,0,110:524:99:1|0:195781128_A_T:3404,4617,21858,0,17216,16869:195781128	6	0	1	2
chr3	195781150	195781150	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	17655.6	472	chr3	195781150	.	C	CAT,*	17655.6	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=6.87;DP=8110;ExcessHet=11.8493;FS=8.427;InbreedingCoeff=-0.4911;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.14;MQRankSum=-1.618e+01;QD=3.26;ReadPosRankSum=-2.268e+00;SOR=1.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:410,108,0:520:99:.:.:3301,0,16745,4544,17082,21781	7	0	12	1
chr3	195781230	195781230	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2409.01	431	chr3	195781230	.	A	G,*	2409.01	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=-8.100e-02;DP=8763;ExcessHet=0.1128;FS=2.971;InbreedingCoeff=-0.0370;MLEAC=1,1;MLEAF=0.036,0.036;MQ=56.96;MQRankSum=3.37;QD=4.28;ReadPosRankSum=4.55;SOR=0.560	GT:AD:DP:GQ:PL	0/1:359,0,0:373:99:2420,0,14747,2763,15219,20727	12	0	1	7
chr3	195781237	195781237	G	0	exonic	MUC4	.	.	.	.	.	457	758	281	0	26	307	0.156372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	57049.74	510	chr3	195781237	.	G	GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTA,*	57049.74	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-8.550e-01;DP=9994;ExcessHet=6.1794;FS=2.732;InbreedingCoeff=-0.3292;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.80;MQRankSum=-1.148e+01;QD=9.95;ReadPosRankSum=-6.049e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/1:516,5,0:521:99:1511,0,18969,1789,19425,21484	7	0	12	1
chr3	195781535	195781582	CGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9998_10045del:p.S3333_D3349delinsN	.	.	432	1084	3	0	3	6	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0	0.0037	0	0.0017	0	0.0003	.	.	.	rs773375978	4.072e-05	0.0059	4.243e-05	3.896e-05	0.0003	3.176e-05	2.88e-05	2.611e-05	2.317e-05	0	3.061e-05	0.0002	9.239e-05	0.0001	0.0003	3.566e-05	5.609e-05	0	0.0005	0.0035	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0008	0.0009	0.0015	0.0006	0	0.0005	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	5407.27	461	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	5407.27	.	AC=5;AF=0.125;AN=40;BaseQRankSum=3.69;DP=9800;ExcessHet=1.2264;FS=4.369;InbreedingCoeff=-0.1429;MLEAC=5;MLEAF=0.125;MQ=56.16;MQRankSum=-7.992e+00;QD=1.81;ReadPosRankSum=-4.233e+00;SOR=1.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:754,105:859:99:0|1:195781534_TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC_T:1730,0,30728:195781534	15	0	5	1
chr3	195781543	195781543	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10037T:p.P3346L	.	.	434	1074	8	0	6	14	0.00371058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.972	D	.	.	0.977	N	0.55	N	1.53	T	-1.037	T	0.086	T	0.191	0.535	6.897	1.03	0.494	0.798	7.588	0.036	.	.	0.00698882	0.0008	0	0	0	0	0.0008	0	0.0012	0.0013447	35	26028	rs879761890	4.884e-05	0.0007	4.984e-05	4.781e-05	0.0004	3.831e-05	3.503e-05	0.0002	0.0002	0.0002	0	0.0001	0.0004	0	0	2.839e-05	0.0002	4.234e-05	0.0002	0.0010	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0.0011	0.0001	0.0009	0	0	0	0.0002	0	0.0002	0.665	0.31383	T	0.122	0.35840	T	.	.	.	.	.	.	.	.	.	.	1	0.25345	N	.	.	.	1.47	0.31987	T	-1.13	0.29933	N	0.131	0.12627	-1.0370	0.18233	T	0.086	0.33522	T	8	0.0051679015	0.00112	T	.	.	.	0.036	0.09122	.	.	0.218845423259	0.21516	0.0020738489350019015	0.00192	.	.	0.483528077602	0.36542	T	.	.	.	-0.243883	0.14857	T	-0.588097	0.13831	T	0.0705799747923548	0.08732	T	0.69863	0.30863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17657	B	.;.	.;.	1.897897	0.24102	16.27	0.74117152090629812	0.10576	0.00893	0.03509	N	AEFBI	0.071891	0.14328	N	-0.569821765808249	0.19867	1.043086	-0.822359589483566	0.13954	0.726643	3.68951057704334E-5	0.03775	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	0.680000	0.24986	0.730000	0.21079	0.093000	0.17603	0.024000	0.20007	0.004000	0.18990	0.012000	0.09680	0.0:0.0:1.0:0.0	7.588	0.27174	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1579	471.15	461	chr3	195781543	.	G	A,*	471.15	.	AC=1,5;AF=0.026,0.132;AN=38;BaseQRankSum=4.39;DP=9702;ExcessHet=1.8958;FS=7.620;InbreedingCoeff=-0.1940;MLEAC=1,5;MLEAF=0.026,0.132;MQ=59.22;MQRankSum=-1.633e+01;QD=0.13;ReadPosRankSum=-4.132e+00;SOR=1.560	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:754,0,105:859:99:0|1:195781534_TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC_T:1730,3998,35039,0,31041,30728:195781534	13	0	1	2
chr3	195781543	195781543	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	471.15	461	chr3	195781543	.	G	A,*	471.15	.	AC=1,5;AF=0.026,0.132;AN=38;BaseQRankSum=4.39;DP=9702;ExcessHet=1.8958;FS=7.620;InbreedingCoeff=-0.1940;MLEAC=1,5;MLEAF=0.026,0.132;MQ=59.22;MQRankSum=-1.633e+01;QD=0.13;ReadPosRankSum=-4.132e+00;SOR=1.560	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:754,0,105:859:99:0|1:195781534_TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC_T:1730,3998,35039,0,31041,30728:195781534	13	0	1	2
chr3	195781545	195781545	C	0	exonic	MUC4	.	.	.	.	.	447	984	72	8	11	99	0.0428016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	214.85	461	chr3	195781545	.	C	*,A	214.85	.	AC=5,2;AF=0.132,0.053;AN=38;BaseQRankSum=0.229;DP=9525;ExcessHet=2.7391;FS=7.747;InbreedingCoeff=-0.2163;MLEAC=5,1;MLEAF=0.132,0.026;MQ=58.15;MQRankSum=-1.237e+01;QD=0.06;ReadPosRankSum=-2.465e+00;SOR=1.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:754,105,0:859:99:0|1:195781534_TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC_T:1730,0,30728,3998,31041,35039:195781534	12	0	5	2
chr3	195781547	195781547	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	199.21	461	chr3	195781547	.	C	G,*	199.21	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-4.040e-01;DP=9369;ExcessHet=2.7391;FS=9.360;InbreedingCoeff=-0.2500;MLEAC=2,6;MLEAF=0.056,0.167;MQ=57.24;MQRankSum=-1.314e+01;QD=0.06;ReadPosRankSum=-4.481e+00;SOR=1.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:563,1,96:660:99:0|1:195781547_C_G:2077,3727,26469,0,22831,23838:195781547	11	0	2	3
chr3	195781570	195781666	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	441	758	314	1	8	324	0.172489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16107.51	556	chr3	195781570	.	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	G,*	16107.51	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=2.83;DP=10262;ExcessHet=5.0857;FS=9.641;InbreedingCoeff=-0.3187;MLEAC=12,2;MLEAF=0.333,0.056;MQ=55.78;MQRankSum=-1.803e+00;QD=2.85;ReadPosRankSum=-4.685e+00;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:395,117,96:608:99:.:.:3690,0,15974,1344,12681,20666	6	0	10	3
chr3	195781578	195781579	AG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	3970.88	556	chr3	195781578	.	AG	A,*	3970.88	.	AC=1,10;AF=0.031,0.313;AN=32;BaseQRankSum=3.87;DP=10171;ExcessHet=8.9063;FS=8.836;InbreedingCoeff=-0.4349;MLEAC=1,12;MLEAF=0.031,0.375;MQ=55.69;MQRankSum=-5.260e-01;QD=0.73;ReadPosRankSum=-6.913e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:395,0,117:608:99:.:.:3690,5133,22995,0,16535,15974	5	0	1	5
chr3	195781580	195781580	G	0	exonic	MUC4	.	.	.	.	.	463	722	319	1	17	338	0.18187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:395,117,0:608:99:.:.:3690,0,15974,5133,16535,22995	6	1	10	3
chr3	195781580	195781580	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10000G:p.P3334A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	B	0.02	B	.	.	1.000	N	0	N	1.6	T	-1.029	T	0.025	T	0.055	-2.642	0	-0.846	-1.978	-4.124	.	0.002	0.00306801804481	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201933946	2.584e-05	3.087e-05	2.108e-05	3.081e-05	0.0009	1.477e-05	1.088e-05	0.0002	0.0001	0	0	0	0.0009	0	0	1.631e-05	5.502e-05	7.572e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.39	0.10838	T	0.225	0.25670	T	.	.	.	.	.	.	.	.	.	.	1	0.20745	N	.	.	.	1.6	0.29085	T	-0.92	0.25332	N	0.04	0.03613	-1.0294	0.20649	T	0.025	0.10866	T	7	0.049262732	0.04492	T	0.003068	0.06636	T	0.002	0.00045	0.155	0.05858	0.0138822411134	0.00435	7.891078168164878E-4	0.00072	.	.	0.422586500645	0.28193	T	.	.	.	-0.383899	0.02944	T	-0.789221	0.02186	T	0.0408006180140352	0.03836	T	0.581242	0.21054	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.01215	B	.;.	.;.	0.478526	0.08482	5.240	0.48788944872141277	0.04100	0.00070	0.00494	N	AEFBI	0.046739	0.07794	N	-1.9141490975778	0.00321	0.01379166	-2.02320338169732	0.00274	0.01206826	9.80237534810795E-4	0.08079	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	-0.846	0.10190	-0.579000	0.05927	-4.712000	0.02021	-2.820000	0.00180	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:395,117,0:608:99:.:.:3690,0,15974,5133,16535,22995	6	1	10	3
chr3	195781581	195781581	G	0	exonic	MUC4	.	.	.	.	.	457	734	318	1	12	332	0.178971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3967.27	556	chr3	195781581	.	G	T,*	3967.27	.	AC=1,9;AF=0.033,0.300;AN=30;BaseQRankSum=4.80;DP=9779;ExcessHet=6.9875;FS=11.398;InbreedingCoeff=-0.4055;MLEAC=1,11;MLEAF=0.033,0.367;MQ=55.48;MQRankSum=-3.960e-01;QD=0.82;ReadPosRankSum=-7.208e+00;SOR=1.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:395,0,117:608:99:.:.:3690,5133,22995,0,16535,15974	5	0	1	6
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13584.69	556	chr3	195781583	.	T	*,TGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC,TC	13584.69	.	AC=8,2,1;AF=0.267,0.067,0.033;AN=30;BaseQRankSum=5.10;DP=9593;ExcessHet=2.8258;FS=8.879;InbreedingCoeff=-0.2455;MLEAC=10,2,1;MLEAF=0.333,0.067,0.033;MQ=56.45;MQRankSum=-1.210e-01;QD=3.10;ReadPosRankSum=-1.456e+00;SOR=1.309	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:395,117,0,0:608:99:.:.:3690,0,15974,5133,16535,22995,5133,16535,22995,22995	5	0	7	6
chr3	195781591	195781591	T	0	exonic	MUC4	.	.	.	.	.	449	750	25	2	296	325	0.0189666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3997.07	404	chr3	195781591	.	T	*,G,A	3997.07	.	AC=10,2,1;AF=0.294,0.059,0.029;AN=34;BaseQRankSum=2.81;DP=8640;ExcessHet=5.0857;FS=10.247;InbreedingCoeff=-0.3523;MLEAC=11,2,1;MLEAF=0.324,0.059,0.029;MQ=55.21;MQRankSum=-4.300e+00;QD=0.78;ReadPosRankSum=-4.302e+00;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:320,117,99,0:536:99:.:.:3816,0,13749,1299,5580,9258,4836,11943,10258,16047	5	0	9	4
chr3	195781605	195781605	G	0	exonic	MUC4	.	.	.	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:327,117,42:486:99:0|1:195781534_TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC_T:3855,0,13215,3194,11789,17116:195781534	7	0	9	4
chr3	195781605	195781605	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9975G:p.H3325Q,	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	B	0.0	B	.	.	1.000	N	0	N	1.64	T	-0.994	T	0.028	T	0.045	0.133	4.714	-1.18	0.494	-0.453	3.491	0.026	0.000701924505054	.	.	0.0038	0.0092	0.0027	0.0065	0.0074	0.0033	0.0060	0.0021	0.0005757	89	154602	rs368202391	0.0002	0.0009	0.0002	0.0002	0.0019	0.0002	0.0002	0.0012	0.0009	0.0005	0.0002	0.0001	0.0019	0.0010	0.0008	0.0002	0.0002	0.0007	0.0015	0.0080	0.0013	0.0018	0.0040	0.0013	0.0013	0.0022	0.0017	0.0008	0	0.0024	0.0027	0.0040	0.0035	0	0.0012	0.0025	0.0038	0.359	0.11957	T	0.549	0.09457	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.28002	T	-0.58	0.20358	N	0.126	0.14054	-0.9936	0.31670	T	0.028	0.12103	T	8	0.0067867637	0.00154	T	7.02E-4	0.00435	T	0.026	0.05648	0.259	0.20159	0.0138822411134	0.00435	0.0013358041139753607	0.00123	.	.	0.487636059523	0.37111	T	.	.	.	-0.38784	0.02778	T	-0.794882	0.02034	T	0.00525087148980338	0.00057	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24566	B	.;.	.;.	0.541304	0.09098	5.882	0.71700136203587272	0.09718	0.00069	0.00489	N	AEFBI	0.058666	0.11023	N	-1.28472862471283	0.03858	0.1731374	-1.36847136025834	0.03593	0.1679022	1.34692826708022E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	-1.18	0.09122	-0.199000	0.09493	-3.178000	0.02995	-1.076000	0.01581	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.5572:0.4428	3.491	0.07201	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:327,117,42:486:99:0|1:195781534_TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC_T:3855,0,13215,3194,11789,17116:195781534	7	0	9	4
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	64803.77	402	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*,G	64803.77	.	AC=5,12;AF=0.147,0.353;AN=34;BaseQRankSum=0.785;DP=8138;ExcessHet=1.0760;FS=0.000;InbreedingCoeff=-0.0359;MLEAC=6,14;MLEAF=0.176,0.412;MQ=54.52;MQRankSum=-7.229e+00;QD=12.85;ReadPosRankSum=0.031;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:31,117,242:390:99:.:.:13826,8635,10946,3541,0,4018	4	0	1	4
chr3	195781620	195781620	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	317.18	402	chr3	195781620	.	T	*,C	317.18	.	AC=15,3;AF=0.441,0.088;AN=34;BaseQRankSum=0.368;DP=7754;ExcessHet=0.4630;FS=2.515;InbreedingCoeff=0.0667;MLEAC=17,3;MLEAF=0.500,0.088;MQ=54.29;MQRankSum=-9.995e+00;QD=0.07;ReadPosRankSum=-1.613e+00;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,376,27:405:94:1|1:195781534_TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC_T:16305,1057,0,15285,94,16359:195781534	4	2	8	4
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	58454.87	402	chr3	195781628	.	C	T,*	58454.87	.	AC=10,20;AF=0.250,0.500;AN=40;BaseQRankSum=2.39;DP=7718;ExcessHet=6.5132;FS=0.581;InbreedingCoeff=-0.3333;MLEAC=10,21;MLEAF=0.250,0.525;MQ=55.94;MQRankSum=-1.348e+00;QD=8.67;ReadPosRankSum=0.131;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:2,13,376:391:99:1|1:195781534_TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC_T:16288,15773,16107,1049,598,0:195781534	0	3	3	1
chr3	195781789	195781789	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9791G:p.S3264C	.	.	.	.	.	.	.	.	.	.	.	2825223	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.994	D	0.962	D	.	.	1.000	N	0.345	N	1.35	T	-1.046	T	0.089	T	0.101	0.205	5.105	1.03	0.494	0.294	5.394	0.028	.	.	.	0.0028	0.0335	0.0047	0	0	0.0003	0	0.0002	.	.	.	rs1260213383	0.0004	0.0009	0.0004	0.0003	0.0075	0.0003	0.0003	0.0066	0.0062	0.0075	0.0006	0.0003	9.515e-05	0	0.0026	0.0001	0.0009	1.93e-05	0.0011	0.0056	0.0013	0.0010	0.0037	0.0010	0.0009	0.0031	0.0028	0.0037	0	0.0008	0.0006	0	0	0	0.0001	0.0018	0	0.036	0.43393	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	1.35	0.35960	T	-0.52	0.20358	N	0.058	0.03392	-1.0464	0.15418	T	0.089	0.34325	T	8	0.0056270957	0.00125	T	.	.	.	0.028	0.06331	0.229	0.15556	0.0297737177859	0.01360	0.001013548136499485	0.00093	.	.	0.469768941402	0.34648	T	.	.	.	-0.293953	0.09243	T	-0.660019	0.08265	T	0.0111137903727331	0.00162	T	0.822818	0.48291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.45918	B	.;.	.;.	1.908544	0.24238	16.32	0.59381222538087186	0.06211	0.00993	0.03770	N	AEFBI	0.089943	0.18228	N	-0.609396956545462	0.18661	0.9706224	-0.852740611599318	0.13221	0.6847116	1.65442328437548E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	-0.438000	0.06975	0.729000	0.21072	0.093000	0.17603	0.000000	0.06391	0.001000	0.17328	0.005000	0.06747	0.0:0.0:1.0:0.0	5.394	0.15560	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:94,0,151:245:99:.:.:4525,4807,8645,0,3838,3448	6	0	1	1
chr3	195781789	195781789	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:94,0,151:245:99:.:.:4525,4807,8645,0,3838,3448	6	0	1	1
chr3	195781790	195781790	A	0	exonic	MUC4	.	.	.	.	.	585	525	41	5	366	417	0.0463215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	155.03	235	chr3	195781790	.	A	G,*	155.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=-5.110e-01;DP=3742;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-5.390e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:94,0,151:245:99:.:.:4525,4807,8645,0,3838,3448	5	0	1	2
chr3	195781809	195781809	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	98.03	235	chr3	195781809	.	T	A,*	98.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=1.65;DP=3716;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=39.50;MQRankSum=-7.910e-01;QD=0.03;ReadPosRankSum=-1.770e+00;SOR=0.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:94,0,151:245:99:.:.:4525,4807,8645,0,3838,3448	5	0	1	2
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1756.67	235	chr3	195781829	.	C	T,*	1756.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-5.383e+00;DP=3592;ExcessHet=15.6281;FS=2.445;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=41.70;MQRankSum=-4.776e+00;QD=0.57;ReadPosRankSum=1.90;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:94,0,151:245:99:.:.:4525,4807,8645,0,3838,3448	6	0	1	1
chr3	195782155	195782155	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9425T:p.T3142I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.824	P	0.507	P	.	.	1.000	N	0.345	N	1.54	T	-1.053	T	0.054	T	0.052	-0.115	3.435	.	-0.000	0.644	4.660	0.054	0.00335105933604	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1348096244	1.716e-05	3.087e-05	1.28e-05	2.171e-05	0.0003	1.103e-05	9.36e-06	0.0001	8.554e-05	0	0	0	0.0003	0	0	7.171e-06	0	0.0001	7.197e-06	0.0002	1.407e-05	0	1.552e-05	0	0	.	.	0	0	0	0	0	0	0	1.552e-05	0	0	0.01	0.56456	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.35	0.34648	T	-1.72	0.40850	N	0.094	0.07398	-1.0534	0.13466	T	0.054	0.22921	T	7	0.10524678	0.19445	T	0.003351	0.07482	T	0.054	0.15330	0.171	0.07655	0.0138822411134	0.00435	3.3087664504990663E-4	0.00030	.	.	0.546682417393	0.45389	T	.	.	.	-0.301902	0.08481	T	-0.671438	0.07516	T	0.072042804472789	0.08935	T	0.812519	0.46414	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.43544	B	.;.	.;.	1.724386	0.21953	15.42	0.74155796043252709	0.10590	0.00584	0.02629	N	AEFBI	0.085834	0.17401	N	-0.89444982236402	0.10973	0.5271463	-1.11700416147729	0.07375	0.3584931	1.18828869086884E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	1.933000	0.39783	-0.183000	0.11113	0.190000	0.17853	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.660	0.12022	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	524.33	408	chr3	195782155	.	G	A	524.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.100e-01;DP=7447;ExcessHet=0.0000;FS=9.077;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=51.99;MQRankSum=-8.781e+00;QD=2.15;ReadPosRankSum=-3.830e+00;SOR=1.450	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,30:244:99:0|1:195782112_G_A:538,0,8896:195782112	19	0	1	1
chr3	195782321	195782416	TGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9164_9259del:p.N3055_A3086del	.	.	422	1044	54	0	2	56	0.0252101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.0042	0.0019	0.0021	0.0048	0.0019	0.0019	0.0042	0.0040	0.0044	0.0026	0.0060	0.0048	0.0042	0.0026	0.0016	0.0037	0.0007	0.0036	0.0085	0.0036	0.0036	0.0049	0.0034	0.0033	0.0039	0.0037	0.0021	0.0022	0.0036	0.0056	0.0049	0.0045	0	0.0043	0.0034	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	571.3	408	chr3	195782320	.	GTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGT	G	571.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.96;DP=7734;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=54.86;MQRankSum=-3.930e+00;QD=1.04;ReadPosRankSum=-1.559e+00;SOR=0.685	GT:AD:DP:GQ:PL	0/1:471,80:551:99:585,0,17349	19	0	1	1
chr3	195782324	195782324	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5562.79	408	chr3	195782324	.	C	*,T	5562.79	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-1.690e+00;DP=7542;ExcessHet=0.0000;FS=1.808;InbreedingCoeff=0.8799;MLEAC=1,1;MLEAF=0.026,0.026;MQ=55.31;MQRankSum=9.24;QD=15.20;ReadPosRankSum=1.94;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:54,80,232:366:99:0|1:195782324_C_*:9141,5579,6833,527,0,9197:195782324	18	0	0	2
chr3	195782324	195782324	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G9256A:p.A3086T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.901	P	0.097	B	.	.	1.000	N	0	N	1.42	T	-1.016	T	0.027	T	0.068	-0.434	1.980	.	-0.889	0.702	5.383	0.044	0.00233228865413	.	.	0.0002	0	0	0.0015	0	0.0001	0	0.0003	3.84e-05	1	26028	rs71321824	0.0001	0.0001	0.0001	0.0001	0.0022	9.562e-05	9.009e-05	0.0018	0.0017	0.0003	0.0002	0	0.0022	6.387e-05	0.0005	3.692e-05	0.0001	8.998e-05	0.0002	0.0002	0.0002	0.0002	0.0015	0.0001	8.904e-05	0.0007	0.0005	0.0003	0	0	0	0.0015	0	0	4.655e-05	0	0	0.21	0.19639	T	0.281	0.22016	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.42	0.34050	T	-0.07	0.08033	N	0.026	0.01203	-1.0159	0.25045	T	0.027	0.11663	T	7	0.016028374	0.00337	T	0.002332	0.04507	T	0.044	0.11924	.	.	0.0138822411134	0.00435	1.8866317214732265E-4	0.00016	.	.	0.559282898903	0.47168	T	.	.	.	-0.363377	0.03943	T	-0.759743	0.03121	T	0.00589901928956647	0.00065	T	0.673133	0.28166	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05447	B	.;.	.;.	0.398040	0.07692	4.368	0.22581552185435536	0.00915	0.00043	0.00351	N	AEFBI	0.045854	0.07545	N	-0.9690251751249	0.09271	0.4380587	-1.12326613866754	0.07257	0.3523199	3.12243890607817E-5	0.03775	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-2.022000	0.01527	-5.852000	0.01575	-2.610000	0.00233	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.441:0.559:0.0:0.0	5.383	0.15501	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	5562.79	408	chr3	195782324	.	C	*,T	5562.79	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-1.690e+00;DP=7542;ExcessHet=0.0000;FS=1.808;InbreedingCoeff=0.8799;MLEAC=1,1;MLEAF=0.026,0.026;MQ=55.31;MQRankSum=9.24;QD=15.20;ReadPosRankSum=1.94;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:54,80,232:366:99:0|1:195782324_C_*:9141,5579,6833,527,0,9197:195782324	18	0	0	2
chr3	195782331	195782331	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon10:c.8387-2A>0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5332.79	408	chr3	195782331	.	T	*,G	5332.79	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-4.814e+00;DP=7552;ExcessHet=0.0000;FS=0.515;InbreedingCoeff=0.8799;MLEAC=1,1;MLEAF=0.026,0.026;MQ=55.01;MQRankSum=9.83;QD=14.45;ReadPosRankSum=2.59;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:60,80,229:369:99:0|1:195782324_C_*:8853,5349,7146,331,0,9153:195782324	18	0	0	2
chr3	195782411	195782411	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9169G:p.L3057V,	.	.	433	1031	56	0	2	58	0.02644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	P	0.092	B	.	.	1.000	N	0.55	N	1.51	T	-1.038	T	0.029	T	0.096	0.106	4.572	.	-0.414	-0.389	3.379	0.010	0.0018974840316	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158136848	0.0004	0.0010	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	7.625e-05	0.0004	0.0015	3.796e-05	0.0015	0	0.0004	0.0006	0	0.0016	0.0052	0.0017	0.0014	0.0022	0.0014	0.0013	0.0019	0.0018	0.0006	0.0086	0.0011	0.0031	0	0.0015	0	0.0022	0.0005	0.0004	0.371	0.22660	T	0.666	0.06427	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.51	0.32482	T	-0.02	0.07299	N	0.043	0.01577	-1.0380	0.17924	T	0.029	0.12278	T	7	0.009854794	0.00221	T	0.001897	0.03351	T	0.010	0.01040	.	.	0.0297737177859	0.01360	1.492367004788712E-4	0.00012	.	.	0.472234934568	0.34987	T	.	.	.	-0.305642	0.08138	T	-0.67681	0.07180	T	0.0302767216235338	0.02032	T	0.807619	0.45757	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28377	B	.;.	.;.	0.701192	0.10700	7.393	0.7859687701517204	0.12370	0.00224	0.01258	N	AEFBI	0.046021	0.07594	N	-1.07037780474094	0.07194	0.3334489	-1.266179450805	0.04896	0.2320322	1.15922054809651E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.360000	0.19987	-4.502000	0.02124	0.093000	0.17603	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.6539:0.0:0.3461:0.0	3.379	0.06826	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05263	174.8	408	chr3	195782411	.	G	C,*	174.8	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=2.25;DP=7351;ExcessHet=0.1190;FS=0.777;InbreedingCoeff=0.1592;MLEAC=1,1;MLEAF=0.026,0.026;MQ=57.85;MQRankSum=-8.603e+00;QD=0.20;ReadPosRankSum=-5.540e+00;SOR=0.921	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:332,0,83:416:99:0|1:195782323_GCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGC_*:1491,2812,16789,0,12452,12065:195782323	17	0	1	2
chr3	195782411	195782411	G	0	exonic	MUC4	.	.	.	.	.	433	1031	56	0	2	58	0.02644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	174.8	408	chr3	195782411	.	G	C,*	174.8	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=2.25;DP=7351;ExcessHet=0.1190;FS=0.777;InbreedingCoeff=0.1592;MLEAC=1,1;MLEAF=0.026,0.026;MQ=57.85;MQRankSum=-8.603e+00;QD=0.20;ReadPosRankSum=-5.540e+00;SOR=0.921	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:332,0,83:416:99:0|1:195782323_GCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGC_*:1491,2812,16789,0,12452,12065:195782323	17	0	1	2
chr3	195782416	195782416	T	0	exonic	MUC4	.	.	.	.	.	469	990	7	0	56	63	0.0035229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	132.11	477	chr3	195782416	.	T	G,*	132.11	.	AC=1,1;AF=0.071,0.071;AN=14;BaseQRankSum=2.85;DP=7833;ExcessHet=0.1259;FS=1.711;InbreedingCoeff=-0.1274;MLEAC=2,2;MLEAF=0.143,0.143;MQ=57.61;MQRankSum=-8.694e+00;QD=0.15;ReadPosRankSum=-6.190e+00;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:332,0,83:416:99:0|1:195782323_GCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGC_*:1491,2812,16789,0,12452,12065:195782323	5	0	1	14
chr3	195782946	195782946	G	0	exonic	MUC4	.	.	.	.	.	509	947	38	4	24	70	0.0237113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	3805.22	528	chr3	195782946	.	G	*,A	3805.22	.	AC=1,1;AF=0.056,0.056;AN=18;BaseQRankSum=-1.966e+00;DP=10786;ExcessHet=0.1128;FS=5.738;InbreedingCoeff=-0.2308;MLEAC=2,2;MLEAF=0.111,0.111;MQ=55.77;MQRankSum=2.60;QD=7.23;ReadPosRankSum=7.98;SOR=0.480	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,121,0:160:99:0|1:195782946_G_*:3622,0,18327,2988,849,10792:195782946	7	0	1	12
chr3	195782949	195782949	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	89047.24	581	chr3	195782949	.	A	G,*	89047.24	.	AC=11,1;AF=0.611,0.056;AN=18;BaseQRankSum=0.195;DP=11733;ExcessHet=5.3821;FS=0.000;InbreedingCoeff=0.0111;MLEAC=20,2;MLEAF=1.00,0.111;MQ=56.70;MQRankSum=-8.626e+00;QD=21.07;ReadPosRankSum=0.379;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:1,488,121:610:99:.:.:26849,4506,2629,17898,0,19092	0	2	6	12
chr3	195782990	195782990	A	0	exonic	MUC4	.	.	.	.	.	482	988	29	6	17	58	0.0203272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5209.43	568	chr3	195782990	.	A	G,*	5209.43	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=-8.000e-03;DP=9903;ExcessHet=0.3672;FS=4.247;InbreedingCoeff=-0.1947;MLEAC=2,4;MLEAF=0.111,0.222;MQ=55.34;MQRankSum=0.946;QD=5.26;ReadPosRankSum=9.61;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:152,0,121:273:99:0|1:195782946_G_*:7058,3128,10423,0,5089,20184:195782946	6	0	1	12
chr3	195783008	195783008	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8929.47	518	chr3	195783008	.	A	G,*	8929.47	.	AC=3,5;AF=0.107,0.179;AN=28;BaseQRankSum=-9.100e-01;DP=10671;ExcessHet=3.7745;FS=0.000;InbreedingCoeff=-0.3793;MLEAC=4,6;MLEAF=0.143,0.214;MQ=56.37;MQRankSum=-4.251e+00;QD=2.12;ReadPosRankSum=0.842;SOR=0.660	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:561,0,87:648:99:.:.:265,2210,26732,0,19841,24310	6	0	3	7
chr3	195783009	195783009	C	0	exonic	MUC4	.	.	.	.	.	474	974	47	0	27	74	0.0235589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8931.46	521	chr3	195783009	.	C	*,T	8931.46	.	AC=5,3;AF=0.179,0.107;AN=28;BaseQRankSum=-4.990e-01;DP=10668;ExcessHet=3.7745;FS=0.000;InbreedingCoeff=-0.3793;MLEAC=7,4;MLEAF=0.250,0.143;MQ=56.37;MQRankSum=-4.434e+00;QD=2.12;ReadPosRankSum=1.05;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:559,87,4:650:99:.:.:258,0,24311,2138,17797,24249	6	0	5	7
chr3	195783018	195783020	AGC	0	exonic	MUC4	.	.	.	.	.	441	1022	49	0	10	59	0.0234114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2034.02	612	chr3	195783018	.	AGC	*,A	2034.02	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=5.41;DP=9542;ExcessHet=0.1190;FS=2.100;InbreedingCoeff=0.0402;MLEAC=1,1;MLEAF=0.031,0.031;MQ=55.31;MQRankSum=1.16;QD=1.36;ReadPosRankSum=0.612;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:561,87,171:819:99:0|1:195783018_AGC_*:3236,2033,24558,0,19345,23926:195783018	14	0	1	5
chr3	195783019	195783020	GC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8560_8561del:p.A2854Ffs*55	.	.	441	1022	49	0	10	59	0.0234114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0005	0	0	0.0102	0.0045	0	0.0025	0.0001537	4	26028	rs1454491239	0.0052	0.0051	0.0051	0.0053	0.0058	0.0051	0.0051	0.0047	0.0046	0.0010	0.0054	0.0039	0.0042	0.0203	0.0058	0.0047	0.0060	0.0047	0.0045	0.0053	0.0041	0.0050	0.0067	0.0042	0.0041	0.0055	0.0051	0.0009	0	0.0067	0.0031	0.0018	0.0082	0	0.0058	0.0050	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2034.02	612	chr3	195783018	.	AGC	*,A	2034.02	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=5.41;DP=9542;ExcessHet=0.1190;FS=2.100;InbreedingCoeff=0.0402;MLEAC=1,1;MLEAF=0.031,0.031;MQ=55.31;MQRankSum=1.16;QD=1.36;ReadPosRankSum=0.612;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:561,87,171:819:99:0|1:195783018_AGC_*:3236,2033,24558,0,19345,23926:195783018	14	0	1	5
chr3	195783022	195783116	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	.	440	1025	47	0	10	57	0.022413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1782.02	612	chr3	195783022	.	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	*,T	1782.02	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=3.08;DP=9820;ExcessHet=0.1190;FS=2.100;InbreedingCoeff=0.0402;MLEAC=1,1;MLEAF=0.031,0.031;MQ=56.45;MQRankSum=-3.280e-01;QD=1.02;ReadPosRankSum=0.492;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:762,143,171:1076:99:0|1:195783018_AGC_*:2487,1781,31918,0,26992,33682:195783018	14	0	1	5
chr3	195783023	195783116	CGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8464_8557del:p.A2822Tfs*151,	.	.	440	1025	47	0	10	57	0.022413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.0005	0	0	0.0102	0.0050	0	0.0026	0.0001537	4	26028	.	0.0035	0.0047	0.0034	0.0035	0.0043	0.0034	0.0033	0.0034	0.0032	0.0007	0.0040	0.0026	0.0026	0.0139	0.0043	0.0031	0.0044	0.0027	0.0040	0.0049	0.0036	0.0045	0.0060	0.0037	0.0036	0.0049	0.0045	0.0009	0	0.0060	0.0028	0.0010	0.0086	0	0.0049	0.0047	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1782.02	612	chr3	195783022	.	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	*,T	1782.02	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=3.08;DP=9820;ExcessHet=0.1190;FS=2.100;InbreedingCoeff=0.0402;MLEAC=1,1;MLEAF=0.031,0.031;MQ=56.45;MQRankSum=-3.280e-01;QD=1.02;ReadPosRankSum=0.492;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:762,143,171:1076:99:0|1:195783018_AGC_*:2487,1781,31918,0,26992,33682:195783018	14	0	1	5
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	13824.02	469	chr3	195783068	.	G	T,*	13824.02	.	AC=6,3;AF=0.214,0.107;AN=28;BaseQRankSum=1.62;DP=9197;ExcessHet=5.7770;FS=6.457;InbreedingCoeff=-0.2980;MLEAC=8,4;MLEAF=0.286,0.143;MQ=56.56;MQRankSum=-1.160e+01;QD=4.34;ReadPosRankSum=-2.209e+00;SOR=1.099	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:353,0,269:622:99:0|1:195783044_T_*:8100,9914,28458,0,18763,21948:195783044	5	0	6	7
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	14051.12	468	chr3	195783070	.	A	C,*	14051.12	.	AC=6,4;AF=0.200,0.133;AN=30;BaseQRankSum=1.87;DP=9244;ExcessHet=6.9875;FS=3.367;InbreedingCoeff=-0.3690;MLEAC=8,5;MLEAF=0.267,0.167;MQ=56.95;MQRankSum=-9.607e+00;QD=3.58;ReadPosRankSum=-2.103e+00;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:359,0,269:628:99:0|1:195783044_T_*:8088,9914,28671,0,18970,22116:195783044	5	0	6	6
chr3	195783071	195783119	TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC	0	exonic	MUC4	.	.	.	.	.	430	1001	39	9	43	100	0.0276833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	7527.28	575	chr3	195783071	.	TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC	*,T	7527.28	.	AC=4,2;AF=0.133,0.067;AN=30;BaseQRankSum=-6.540e-01;DP=9679;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.0911;MLEAC=5,3;MLEAF=0.167,0.100;MQ=57.61;MQRankSum=-9.008e+00;QD=2.31;ReadPosRankSum=2.20;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:438,363,3:804:99:.:.:8242,0,20423,6183,13068,29817	9	0	4	6
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	76734.88	472	chr3	195783084	.	A	C,*	76734.88	.	AC=14,3;AF=0.368,0.079;AN=38;BaseQRankSum=-3.116e+00;DP=9201;ExcessHet=0.8299;FS=0.000;InbreedingCoeff=0.0328;MLEAC=15,3;MLEAF=0.395,0.079;MQ=57.96;MQRankSum=-8.050e-01;QD=13.77;ReadPosRankSum=-5.900e-01;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:4,373,278:655:99:.:.:19275,9860,13784,10099,0,13754	6	2	8	2
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	10418.23	479	chr3	195783086	.	A	*,G	10418.23	.	AC=5,7;AF=0.179,0.250;AN=28;BaseQRankSum=0.783;DP=8967;ExcessHet=1.0583;FS=3.282;InbreedingCoeff=-0.1323;MLEAC=7,9;MLEAF=0.250,0.321;MQ=57.34;MQRankSum=-1.078e+01;QD=2.74;ReadPosRankSum=-4.326e+00;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:387,278,0:665:99:0|1:195783044_T_*:12511,0,13960,10136,14904,26164:195783044	4	0	4	7
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	99636.6	482	chr3	195783093	.	A	G,*	99636.6	.	AC=15,2;AF=0.469,0.063;AN=32;BaseQRankSum=-2.015e+00;DP=8944;ExcessHet=1.9072;FS=0.000;InbreedingCoeff=-0.0323;MLEAC=18,2;MLEAF=0.563,0.063;MQ=58.06;MQRankSum=-9.630e-01;QD=17.76;ReadPosRankSum=0.012;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,382,278:660:99:.:.:30439,10260,8682,15348,0,14430	3	2	9	5
chr3	195783103	195783103	A	0	exonic	MUC4	.	.	.	.	.	690	605	177	26	24	253	0.159138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4587.88	506	chr3	195783103	.	A	G,*	4587.88	.	AC=6,4;AF=0.300,0.200;AN=20;BaseQRankSum=4.06;DP=8924;ExcessHet=0.4906;FS=4.240;InbreedingCoeff=-0.0371;MLEAC=10,6;MLEAF=0.500,0.300;MQ=58.00;MQRankSum=-1.052e+01;QD=1.60;ReadPosRankSum=-4.436e+00;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:389,0,298:687:99:0|1:195783044_T_*:12524,12204,28475,0,15465,14099:195783044	2	1	3	11
chr3	195783105	195783105	C	0	exonic	MUC4	.	.	.	.	.	522	914	37	26	23	112	0.0464267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	2897.01	506	chr3	195783105	.	C	T,*	2897.01	.	AC=6,4;AF=0.188,0.125;AN=32;BaseQRankSum=1.38;DP=7813;ExcessHet=0.3364;FS=4.620;InbreedingCoeff=0.1275;MLEAC=7,5;MLEAF=0.219,0.156;MQ=57.99;MQRankSum=-1.166e+01;QD=1.02;ReadPosRankSum=-5.051e+00;SOR=0.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:389,0,298:687:99:0|1:195783044_T_*:12524,12204,28475,0,15465,14099:195783044	8	1	3	5
chr3	195783106	195783106	A	0	exonic	MUC4	.	.	.	.	.	522	916	35	26	23	110	0.0453361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	2727.94	506	chr3	195783106	.	A	*,G	2727.94	.	AC=4,6;AF=0.125,0.188;AN=32;BaseQRankSum=5.87;DP=7812;ExcessHet=0.3364;FS=3.688;InbreedingCoeff=0.1275;MLEAC=5,7;MLEAF=0.156,0.219;MQ=57.97;MQRankSum=-1.105e+01;QD=0.96;ReadPosRankSum=-4.100e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:389,298,0:687:99:0|1:195783044_T_*:12524,0,14099,12204,15465,28475:195783044	8	0	3	5
chr3	195783119	195783119	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G8461A:p.D2821N,	.	.	523	945	13	20	21	74	0.0272774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	B	0.0	B	.	.	0.967	N	0.345	N	1.63	T	-0.998	T	0.034	T	0.028	0.684	7.659	.	-0.000	-0.466	4.544	0.017	0.00361977304785	.	.	0.0001	0	0	0	0.0006	0.0002	0	0	2.59e-05	4	154602	rs868560707	0.0003	0.0058	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	0.0004	0.0003	0.0003	0.0006	0.0005	0.0007	0.0002	0.0006	8.471e-05	0.0004	0.0066	0.0005	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0002	0	0.0005	0.0007	0	0.0001	0	0.0005	0.0007	0	0.046	0.40573	D	0.092	0.40110	T	.	.	.	.	.	.	.	.	.	.	1	0.25888	N	.	.	.	1.63	0.28002	T	-0.65	0.18877	N	0.074	0.04790	-0.9984	0.30367	T	0.034	0.14639	T	7	0.04676366	0.03908	T	0.00362	0.08309	T	0.017	0.02790	0.218	0.13932	0.0138822411134	0.00435	4.811599441479893E-5	0.00003	.	.	0.538040757179	0.44169	T	.	.	.	-0.406046	0.02112	T	-0.821033	0.01432	T	0.0261067225224835	0.01420	T	0.627737	0.24333	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16886	B	.;.	.;.	1.127292	0.15138	11.62	0.96387718866879646	0.29640	0.00081	0.00551	N	AEFBI	0.043696	0.06939	N	-1.31332560996001	0.03522	0.1574579	-1.42243953303557	0.03029	0.1405056	1.19599416723631E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-2.089000	0.01445	-2.543000	0.03628	0.174000	0.17776	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5833:0.4166:0.0	4.544	0.11475	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1562	635.54	526	chr3	195783119	.	C	T,*	635.54	.	AC=2,4;AF=0.063,0.125;AN=32;BaseQRankSum=2.58;DP=7561;ExcessHet=0.1688;FS=2.903;InbreedingCoeff=0.1971;MLEAC=2,5;MLEAF=0.063,0.156;MQ=57.40;MQRankSum=-2.830e+00;QD=0.31;ReadPosRankSum=0.652;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:696,0,16:712:99:0|1:195783044_T_*:1841,257,29208,0,25870,26519:195783044	11	0	1	5
chr3	195783119	195783119	C	0	exonic	MUC4	.	.	.	.	.	523	945	13	20	21	74	0.0272774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	635.54	526	chr3	195783119	.	C	T,*	635.54	.	AC=2,4;AF=0.063,0.125;AN=32;BaseQRankSum=2.58;DP=7561;ExcessHet=0.1688;FS=2.903;InbreedingCoeff=0.1971;MLEAC=2,5;MLEAF=0.063,0.156;MQ=57.40;MQRankSum=-2.830e+00;QD=0.31;ReadPosRankSum=0.652;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:696,0,16:712:99:0|1:195783044_T_*:1841,257,29208,0,25870,26519:195783044	11	0	1	5
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	13623.42	256	chr3	195783346	.	A	*,G	13623.42	.	AC=4,7;AF=0.286,0.500;AN=14;BaseQRankSum=1.28;DP=3337;ExcessHet=1.1394;FS=1.217;InbreedingCoeff=0.2429;MLEAC=9,15;MLEAF=0.643,1.00;MQ=53.18;MQRankSum=1.23;QD=15.80;ReadPosRankSum=1.52;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:27,0,144:171:99:0|1:195783346_A_G:5526,5607,6673,0,1066,633:195783346	0	1	1	14
chr3	195783357	195783357	C	0	exonic	MUC4	.	.	.	.	.	804	505	66	83	64	296	0.186795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	9429.56	210	chr3	195783357	.	C	G,*	9429.56	.	AC=5,4;AF=0.357,0.286;AN=14;BaseQRankSum=-3.000e-03;DP=3094;ExcessHet=0.0000;FS=5.746;InbreedingCoeff=0.3636;MLEAC=10,8;MLEAF=0.714,0.571;MQ=49.14;MQRankSum=1.46;QD=23.75;ReadPosRankSum=-1.441e+00;SOR=1.550	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,113,0:137:99:0|1:195783346_A_G:4584,0,668,4656,1008,5664:195783346	2	2	1	14
chr3	195783367	195783367	A	0	exonic	MUC4	.	.	.	.	.	717	615	72	57	61	247	0.131356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6902.99	178	chr3	195783367	.	A	G,*	6902.99	.	AC=5,2;AF=0.357,0.143;AN=14;BaseQRankSum=1.84;DP=2929;ExcessHet=0.0000;FS=11.888;InbreedingCoeff=0.3056;MLEAC=10,4;MLEAF=0.714,0.286;MQ=46.46;MQRankSum=1.24;QD=30.54;ReadPosRankSum=1.51;SOR=1.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,83,0:110:99:0|1:195783346_A_G:3404,0,884,3485,1134,4619:195783346	3	2	1	14
chr3	195783861	195783861	G	0	exonic	MUC4	.	.	.	.	.	560	460	486	7	9	509	0.352113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	81944.7	385	chr3	195783861	.	G	A,*	81944.7	.	AC=12,1;AF=0.400,0.033;AN=30;BaseQRankSum=1.06;DP=8683;ExcessHet=15.1749;FS=1.128;InbreedingCoeff=-0.5646;MLEAC=15,1;MLEAF=0.500,0.033;MQ=54.05;MQRankSum=-8.970e-01;QD=13.98;ReadPosRankSum=0.513;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:369,312,0:681:99:0|1:195783836_T_G:11970,0,14555,13081,15494,28575:195783836	2	0	12	6
chr3	195783874	195783874	G	0	exonic	MUC4	.	.	.	.	.	665	374	471	9	3	492	0.395311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	83273.27	394	chr3	195783874	.	G	A,*	83273.27	.	AC=12,1;AF=0.353,0.029;AN=34;BaseQRankSum=-2.313e+00;DP=8997;ExcessHet=13.8672;FS=1.132;InbreedingCoeff=-0.5289;MLEAC=14,1;MLEAF=0.412,0.029;MQ=54.92;MQRankSum=-5.830e-01;QD=13.63;ReadPosRankSum=3.00;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,334,0:708:99:0|1:195783836_T_G:12817,0,14699,13943,15704,29647:195783836	4	0	12	4
chr3	195783878	195783878	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	158236.0	363	chr3	195783878	.	C	A,CGGAAGTGTCGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA,*,CGGAAGTGTTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA	158236.0	.	AC=12,7,1,1;AF=0.333,0.194,0.028,0.028;AN=36;BaseQRankSum=1.84;DP=9624;ExcessHet=8.7202;FS=1.793;InbreedingCoeff=-0.4053;MLEAC=13,7,1,1;MLEAF=0.361,0.194,0.028,0.028;MQ=55.02;MQRankSum=-2.778e+00;QD=22.89;ReadPosRankSum=-4.840e-01;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:384,339,0,0,0:723:99:0|1:195783836_T_G:12915,0,15104,14071,16124,30195,14071,16124,30195,30195,14071,16124,30195,30195,30195:195783836	1	1	9	3
chr3	195783891	195783891	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	105790.68	446	chr3	195783891	.	G	A,*	105790.68	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=-3.408e+00;DP=9538;ExcessHet=18.9861;FS=1.113;InbreedingCoeff=-0.6327;MLEAC=15,1;MLEAF=0.395,0.026;MQ=55.85;MQRankSum=1.36;QD=13.99;ReadPosRankSum=1.52;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:368,397,0:765:99:0|1:195783891_G_A:14987,0,14237,16095,15432,31527:195783891	4	0	14	2
chr3	195783902	195783902	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	124896.55	459	chr3	195783902	.	A	G,*	124896.55	.	AC=15,1;AF=0.417,0.028;AN=36;BaseQRankSum=-2.830e-01;DP=9618;ExcessHet=25.4433;FS=0.524;InbreedingCoeff=-0.7101;MLEAC=17,1;MLEAF=0.472,0.028;MQ=56.37;MQRankSum=0.323;QD=15.45;ReadPosRankSum=-3.430e-01;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:377,404,0:781:99:0|1:195783891_G_A:15554,0,14594,16688,15810,32498:195783891	2	0	15	3
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5294	123606.13	363	chr3	195784652	.	C	G,*	123606.13	.	AC=16,4;AF=0.471,0.118;AN=34;BaseQRankSum=1.37;DP=11220;ExcessHet=2.7716;FS=0.566;InbreedingCoeff=-0.1110;MLEAC=19,5;MLEAF=0.559,0.147;MQ=55.09;MQRankSum=-1.168e+01;QD=15.32;ReadPosRankSum=-3.180e-01;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,368,0:372:99:1|1:195784652_C_G:16326,960,0,16338,1108,16485:195784652	2	3	8	4
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	117318.88	370	chr3	195784654	.	T	C,*	117318.88	.	AC=16,3;AF=0.471,0.088;AN=34;BaseQRankSum=1.41;DP=11323;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=19,4;MLEAF=0.559,0.118;MQ=54.70;MQRankSum=-1.241e+01;QD=16.09;ReadPosRankSum=-3.410e-01;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,373,0:377:99:1|1:195784652_C_G:16490,975,0,16502,1123,16650:195784652	3	3	8	4
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4706	108863.73	369	chr3	195784655	.	C	*,T	108863.73	.	AC=4,15;AF=0.118,0.441;AN=34;BaseQRankSum=2.58;DP=11307;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=5,17;MLEAF=0.147,0.500;MQ=54.71;MQRankSum=-1.230e+01;QD=14.80;ReadPosRankSum=-4.320e-01;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:4,0,372:376:99:1|1:195784652_C_G:16474,16486,16633,972,1120,0:195784652	3	0	1	4
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	181902.03	501	chr3	195784719	.	A	G,*	181902.03	.	AC=18,3;AF=0.600,0.100;AN=30;BaseQRankSum=-5.120e-01;DP=14927;ExcessHet=7.4688;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=23,4;MLEAF=0.767,0.133;MQ=57.00;MQRankSum=-5.969e+00;QD=19.43;ReadPosRankSum=-2.732e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,536,0:576:99:.:.:19194,1428,0,19212,1597,19378	0	4	8	6
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,825,0:825:99:.:.:29205,2476,0,27919,2475,29921	0	19	0	0
chr3	195785374	195785374	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	431121.8	754	chr3	195785374	.	T	C,*	431121.8	.	AC=36,1;AF=0.857,0.024;AN=42;BaseQRankSum=1.92;DP=14531;ExcessHet=1.1607;FS=1.262;InbreedingCoeff=-0.1351;MLEAC=36,1;MLEAF=0.857,0.024;MQ=56.84;MQRankSum=-6.000e-01;QD=31.27;ReadPosRankSum=1.39;SOR=0.348	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,953,0:953:99:.:.:34624,2863,0,34624,2863,34624	0	15	5	0
chr3	195785809	195785809	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C5771G:p.T1924S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	P	0.307	B	.	.	1.000	N	0.55	N	1.43	T	-1.065	T	0.050	T	0.082	-0.286	2.634	.	0.488	1.633	.	0.040	0.00305888533958	.	.	0.0003	0	0	0.0049	0	9.316e-05	0	0.0003	7.12e-05	11	154602	rs759653308	5.841e-05	0.0001	5.331e-05	6.365e-05	0.0017	4.778e-05	4.426e-05	0.0013	0.0012	0	0	0	0.0017	2.063e-05	0.0005	1.228e-05	7.1e-05	5.11e-05	3.975e-05	7.895e-05	1.297e-05	6.771e-05	0.0006	1.727e-05	1.137e-05	0.0002	8.404e-05	0	0	0	0	0.0006	0	0	4.421e-05	0	0	0.195	0.31987	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	1.33	0.35031	T	-0.1	0.08495	N	0.063	0.04790	-1.0654	0.10456	T	0.050	0.21456	T	6	0.008261412	0.00187	T	0.003059	0.06606	T	0.040	0.10527	0.107	0.01868	0.0138822411134	0.00435	2.776378258147571E-4	0.00024	.	.	0.533043444157	0.43464	T	.	.	.	-0.302946	0.08384	T	-0.672937	0.07421	T	0.0394965610797001	0.03599	T	0.763224	0.38939	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.37063	B	.;.	.;.	0.555582	0.09243	6.024	0.48423294783827697	0.04040	0.02115	0.06256	N	AEFBCI	0.073002	0.14589	N	-0.856859245280861	0.11882	0.5759168	-1.05940999564053	0.08512	0.4188642	1.23434099824135E-5	0.02871	0.554377	0.28877	0	0.446627	0.06534	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	1.375000	0.33900	-0.360000	0.09681	-1.633000	0.00850	0.005000	0.17040	0.000000	0.08366	0.001000	0.02609	.	.	.	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2249.06	689	chr3	195785809	.	G	C	2249.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=12319;ExcessHet=0.0000;FS=0.696;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=59.45;MQRankSum=2.71;QD=2.29;ReadPosRankSum=-1.312e+00;SOR=0.789	GT:AD:DP:GQ:PL	0/1:812,170:982:99:2263,0,21476	20	0	1	0
chr3	195786813	195786908	GTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.4672_4767del:p.A1558_D1589del	.	.	441	1076	2	0	3	5	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0	0	0.0012	3.84e-05	1	26028	.	1.477e-05	3.366e-05	1.311e-05	1.648e-05	0.0005	9.65e-06	7.84e-06	8.14e-05	3.407e-05	0.0001	6.227e-05	0	0	0	0.0005	3.795e-06	5.397e-05	6.603e-05	3.685e-05	8.153e-05	1.804e-05	5.647e-05	0.0006	1.161e-05	6.8e-06	0.0001	4.251e-05	8.469e-05	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1866.66	490	chr3	195786812	.	TGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGC	T	1866.66	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.66;DP=9347;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0390;MLEAC=1;MLEAF=0.026;MQ=55.81;MQRankSum=-1.163e+01;QD=1.92;ReadPosRankSum=3.16;SOR=0.793	GT:AD:DP:GQ:PL	0/1:861,111:972:99:1880,0,33955	18	0	1	2
chr3	195786836	195786836	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A4744G:p.T1582A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	B	0.414	B	.	.	1.000	N	-0.55	N	1.5	T	-0.952	T	0.035	T	0.072	0.024	4.137	.	0.077	-0.860	4.518	0.022	.	.	.	0.0015	0.0186	0	0	0	0.0002	0	0	.	.	.	rs767721533	2.643e-05	0.0001	2.753e-05	2.53e-05	0.0005	1.935e-05	1.717e-05	0.0003	0.0003	0.0005	0	0.0002	0	0	0	8.51e-06	5.389e-05	6.45e-05	0.0004	0.0012	0.0005	0.0003	0.0014	0.0003	0.0003	0.0010	0.0009	0.0014	0.0013	0.0002	0.0006	0.0003	0	0	3.369e-05	0	0.0006	0.427	0.10245	T	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.20864	N	.	.	.	1.5	0.31205	T	-0.1	0.08495	N	0.025	0.00527	-0.9522	0.40590	T	0.035	0.14943	T	7	0.0063316226	0.00143	T	.	.	.	0.022	0.04323	.	.	0.0138822411134	0.00435	2.5633403550001925E-4	0.00023	.	.	0.463001132011	0.33722	T	.	.	.	-0.37565	0.03317	T	-0.777372	0.02533	T	0.034463220526396	0.02716	T	0.532847	0.17735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03773	B	.;.	.;.	0.267129	0.06449	2.924	0.57728693465169711	0.05833	0.00351	0.01809	N	AEFBI	0.053201	0.09565	N	-1.17603786426683	0.05363	0.2443288	-1.31433640132482	0.04244	0.1997721	1.16378297766622E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-6.511000	0.00078	-6.858000	0.01288	-1.217000	0.01344	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:7.0E-4:0.0:0.9993	4.518	0.11349	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05	2734.42	490	chr3	195786836	.	T	C,*	2734.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=5.49;DP=9341;ExcessHet=0.1128;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.26;MQRankSum=-1.092e+01;QD=2.19;ReadPosRankSum=-8.680e-01;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:861,0,111:972:99:.:.:1880,4463,38777,0,34314,33955	18	0	1	1
chr3	195786836	195786836	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2734.42	490	chr3	195786836	.	T	C,*	2734.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=5.49;DP=9341;ExcessHet=0.1128;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.26;MQRankSum=-1.092e+01;QD=2.19;ReadPosRankSum=-8.680e-01;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:861,0,111:972:99:.:.:1880,4463,38777,0,34314,33955	18	0	1	1
chr3	195786837	195786837	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C4743G:p.H1581Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	P	0.394	B	.	.	1.000	N	0.55	N	1.77	T	-0.987	T	0.042	T	0.043	-0.257	2.764	.	0.088	1.076	5.868	0.051	0.0018022909023	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433967173	2.9e-06	6.849e-06	0	5.882e-06	5.132e-05	6.8e-07	4.6e-07	1.698e-05	1.007e-05	0	0	0	0	0	0	0	0	5.132e-05	2.013e-05	0.0001	0	4.112e-05	0.0002	5.35e-06	2.49e-06	.	.	2.52e-05	0	0	0	0	0	0	1.487e-05	0	0.0002	0.033	0.44358	D	0.047	0.49120	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.77	0.26445	T	-0.3	0.11913	N	0.06	0.05037	-0.9870	0.33347	T	0.042	0.18202	T	7	0.0676651	0.09461	T	0.001802	0.03089	T	0.051	0.14325	0.185	0.09388	0.0138822411134	0.00435	9.078141338902045E-4	0.00083	.	.	0.477809727192	0.35755	T	.	.	.	-0.377128	0.03248	T	-0.779495	0.02468	T	0.0961095467209816	0.11924	T	0.552145	0.19060	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41480	B	.;.	.;.	0.881260	0.12544	9.074	0.65028823967065863	0.07658	0.01111	0.04064	N	AEFBI	0.067318	0.13228	N	-0.966786020209137	0.09319	0.4405873	-1.15569419400416	0.06666	0.3216276	1.17720544703296E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-1.554000	0.02276	-4.346000	0.02205	0.167000	0.17740	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	8.0E-4:0.0:0.9992:0.0	5.868	0.18034	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	2734.42	490	chr3	195786837	.	G	C,*	2734.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=2.93;DP=9337;ExcessHet=0.1128;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.22;MQRankSum=-1.092e+01;QD=2.19;ReadPosRankSum=-1.082e+00;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:861,0,111:972:99:.:.:1880,4463,38777,0,34314,33955	18	0	1	1
chr3	195786837	195786837	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2734.42	490	chr3	195786837	.	G	C,*	2734.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=2.93;DP=9337;ExcessHet=0.1128;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.22;MQRankSum=-1.092e+01;QD=2.19;ReadPosRankSum=-1.082e+00;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:861,0,111:972:99:.:.:1880,4463,38777,0,34314,33955	18	0	1	1
chr3	195786846	195786846	A	0	exonic	MUC4	.	.	.	.	.	557	954	6	0	5	11	0.0031348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2385.42	490	chr3	195786846	.	A	G,*	2385.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=4.04;DP=9324;ExcessHet=0.1128;FS=3.754;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.23;MQRankSum=-1.114e+01;QD=1.93;ReadPosRankSum=-2.126e+00;SOR=1.059	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:861,0,111:972:99:.:.:1880,4463,38777,0,34314,33955	18	0	1	1
chr3	195786859	195786860	GG	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.4720_4721del:p.P1574Ffs*23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.793e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.333e-05	4.622e-05	0	2.728e-05	0.0002	2.22e-06	8.3e-07	.	.	0	0	0	0	0	0	0	1.483e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1708.38	490	chr3	195786858	.	AGG	A,*	1708.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=3.20;DP=9310;ExcessHet=0.1128;FS=3.943;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.10;MQRankSum=-1.212e+01;QD=1.40;ReadPosRankSum=-3.568e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:861,0,111:972:99:.:.:1880,4463,38777,0,34314,33955	18	0	1	1
chr3	195786858	195786860	AGG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1708.38	490	chr3	195786858	.	AGG	A,*	1708.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=3.20;DP=9310;ExcessHet=0.1128;FS=3.943;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.10;MQRankSum=-1.212e+01;QD=1.40;ReadPosRankSum=-3.568e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:861,0,111:972:99:.:.:1880,4463,38777,0,34314,33955	18	0	1	1
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	3246.35	24	chr3	195787238	.	C	A,*	3246.35	.	AC=16,3;AF=0.421,0.079;AN=38;BaseQRankSum=1.49;DP=300;ExcessHet=2.6629;FS=47.055;InbreedingCoeff=-0.1962;MLEAC=18,3;MLEAF=0.474,0.079;MQ=37.84;MQRankSum=1.47;QD=13.47;ReadPosRankSum=-3.110e-01;SOR=1.282	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,10,6:16:99:0|1:195787238_C_*:672,252,222,420,0,402:195787238	4	2	10	2
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2873.59	19	chr3	195787273	.	T	*,C	2873.59	.	AC=4,15;AF=0.100,0.375;AN=40;BaseQRankSum=-3.190e-01;DP=324;ExcessHet=0.7352;FS=61.659;InbreedingCoeff=-0.0399;MLEAC=5,17;MLEAF=0.125,0.425;MQ=37.78;MQRankSum=1.27;QD=11.54;ReadPosRankSum=-6.730e-01;SOR=0.049	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,6,8:14:99:0|1:195787238_C_*:577,331,359,250,0,225:195787238	6	0	1	1
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	1237.73	147	chr3	195787579	.	G	A,*	1237.73	.	AC=2,13;AF=0.071,0.464;AN=28;DP=1766;ExcessHet=0.0393;FS=10.568;InbreedingCoeff=0.2243;MLEAC=3,17;MLEAF=0.107,0.607;MQ=51.08;QD=1.06;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,54:54:99:1|1:195787508_T_C:2430,2430,2430,163,163,0:195787508	4	1	0	7
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	923.51	147	chr3	195787584	.	A	G,*	923.51	.	AC=2,13;AF=0.077,0.500;AN=26;DP=1759;ExcessHet=0.0610;FS=9.265;InbreedingCoeff=0.2100;MLEAC=3,18;MLEAF=0.115,0.692;MQ=48.44;QD=0.79;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,54:54:99:1|1:195787508_T_C:2430,2430,2430,163,163,0:195787508	3	1	0	8
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,54:54:99:1|1:195787508_T_C:2430,2430,2430,163,163,0:195787508	5	1	0	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,54:54:99:1|1:195787508_T_C:2430,2430,2430,163,163,0:195787508	5	1	0	6
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del	.	.	845	542	82	39	14	174	0.128617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	8.86e-05	0.0001	0.0002	8.685e-05	7.777e-05	7.503e-05	6.47e-05	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0001	0.0002	2.234e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	3048.65	24	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T,AGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	3048.65	.	AC=2,12;AF=0.059,0.353;AN=34;BaseQRankSum=1.44;DP=324;ExcessHet=0.6984;FS=37.858;InbreedingCoeff=0.0268;MLEAC=2,14;MLEAF=0.059,0.412;MQ=36.04;MQRankSum=0.122;QD=17.13;ReadPosRankSum=0.506;SOR=4.512	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,6,18:24:99:.:.:903,697,939,229,0,175	6	0	1	4
chr3	195787858	195787858	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3722T:p.A1241V	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	P	0.483	P	.	.	1.000	N	0.55	N	1.56	T	-1.063	T	0.045	T	0.178	0.458	6.489	.	-1.696	-0.727	5.179	0.057	0.00310099407166	.	.	0.0027	0.0060	0	0	0	0.0019	0	0.0043	2.59e-05	4	154602	rs200470030	0.0005	0.0029	0.0005	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0006	0.0004	0.0005	0.0007	0.0004	0.0012	0.0004	0.0006	0.0004	0.0003	0.0014	0.0004	0.0002	0.0015	7.729e-05	4.082e-05	0.0003	0.0001	0	0	0.0015	0	0	0	0	0.0002	0	0	0.011	0.55530	D	0.075	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	1.56	0.29866	T	-0.13	0.08971	N	0.1	0.08227	-1.0627	0.11093	T	0.045	0.19152	T	7	0.004917234	0.00105	T	0.003101	0.06726	T	0.057	0.16321	0.128	0.03331	0.0138822411134	0.00435	5.679174612668311E-5	0.00004	.	.	0.449930310249	0.31934	T	.	.	.	-0.280489	0.10615	T	-0.64068	0.09619	T	0.0155058956420158	0.00350	T	0.634936	0.24909	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16099	B	.;.	.;.	-0.403259	0.02200	0.219	0.97017531814541358	0.32010	0.00104	0.00666	N	AEFI	0.027497	0.02257	N	-1.45731490531687	0.02160	0.09506899	-1.67235334149452	0.01265	0.05701407	1.15719927465646E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-1.222000	0.03074	-10.294000	0.00717	-1.958000	0.00478	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2757:0.0:0.7243:0.0	5.179	0.14479	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1562	258.65	24	chr3	195787858	.	G	A,*	258.65	.	AC=2,3;AF=0.063,0.094;AN=32;BaseQRankSum=-1.668e+00;DP=327;ExcessHet=1.3000;FS=32.558;InbreedingCoeff=-0.1252;MLEAC=2,4;MLEAF=0.063,0.125;MQ=36.65;MQRankSum=-8.500e-02;QD=3.45;ReadPosRankSum=-4.920e-01;SOR=5.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:0,0,6:24:99:.:.:206,239,467,0,234,242	11	0	2	5
chr3	195787858	195787858	G	0	exonic	MUC4	.	.	.	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	258.65	24	chr3	195787858	.	G	A,*	258.65	.	AC=2,3;AF=0.063,0.094;AN=32;BaseQRankSum=-1.668e+00;DP=327;ExcessHet=1.3000;FS=32.558;InbreedingCoeff=-0.1252;MLEAC=2,4;MLEAF=0.063,0.125;MQ=36.65;MQRankSum=-8.500e-02;QD=3.45;ReadPosRankSum=-4.920e-01;SOR=5.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:0,0,6:24:99:.:.:206,239,467,0,234,242	11	0	2	5
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	2681.94	24	chr3	195787862	.	C	A,*	2681.94	.	AC=13,2;AF=0.433,0.067;AN=30;BaseQRankSum=-2.400e-01;DP=304;ExcessHet=0.3122;FS=39.025;InbreedingCoeff=0.0321;MLEAC=16,3;MLEAF=0.533,0.100;MQ=35.60;MQRankSum=-7.000e-02;QD=16.16;ReadPosRankSum=0.623;SOR=4.592	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,7,6:13:99:0|1:195787862_C_*:540,247,227,294,0,276:195787862	4	3	6	6
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4090.56	24	chr3	195787897	.	T	*,C	4090.56	.	AC=2,16;AF=0.059,0.471;AN=34;BaseQRankSum=-3.270e-01;DP=455;ExcessHet=0.3330;FS=31.908;InbreedingCoeff=0.0493;MLEAC=2,18;MLEAF=0.059,0.529;MQ=36.91;MQRankSum=-3.460e-01;QD=16.17;ReadPosRankSum=0.153;SOR=4.157	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,6,18:24:99:0|1:195787862_C_*:921,697,738,247,0,194:195787862	4	0	1	4
chr3	195788086	195788277	TGACCTGTGGATGCTGAGGAAGCATCAGTGACATGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3303_3494del:p.H1101_G1164del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.379e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1523.5	190	chr3	195788085	.	CTGACCTGTGGATGCTGAGGAAGCATCAGTGACATGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCG	C	1523.5	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.238e+00;DP=3365;ExcessHet=0.0000;FS=7.739;InbreedingCoeff=-0.0668;MLEAC=1;MLEAF=0.029;MQ=55.87;MQRankSum=-6.883e+00;QD=2.12;ReadPosRankSum=-4.201e+00;SOR=1.468	GT:AD:DP:GQ:PL	0/1:603,114:717:99:1536,0,23524	16	0	1	4
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	6578.57	769	chr3	195788132	.	T	C,*	6578.57	.	AC=7,3;AF=0.219,0.094;AN=32;BaseQRankSum=4.36;DP=5689;ExcessHet=7.5380;FS=5.019;InbreedingCoeff=-0.3295;MLEAC=9,4;MLEAF=0.281,0.125;MQ=54.21;MQRankSum=-8.605e+00;QD=1.86;ReadPosRankSum=1.06;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:416,0,278:699:99:.:.:7253,8256,26164,0,16979,16037	6	0	7	5
chr3	195788137	195788137	C	0	exonic	MUC4	.	.	.	.	.	502	872	56	8	84	156	0.0396476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	1689.47	769	chr3	195788137	.	C	*,G	1689.47	.	AC=3,2;AF=0.115,0.077;AN=26;BaseQRankSum=1.29;DP=5207;ExcessHet=0.0568;FS=3.338;InbreedingCoeff=0.0920;MLEAC=4,3;MLEAF=0.154,0.115;MQ=52.67;MQRankSum=3.15;QD=0.89;ReadPosRankSum=0.759;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:416,278,0:699:99:.:.:7253,0,16037,8256,16979,26164	9	0	2	8
chr3	195788146	195788146	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3077	5085.53	769	chr3	195788146	.	A	G,*	5085.53	.	AC=6,2;AF=0.231,0.077;AN=26;BaseQRankSum=5.31;DP=5652;ExcessHet=4.3158;FS=6.139;InbreedingCoeff=-0.2994;MLEAC=8,3;MLEAF=0.308,0.115;MQ=54.57;MQRankSum=-9.562e+00;QD=1.82;ReadPosRankSum=-6.330e-01;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:416,0,278:699:99:.:.:7253,8256,26164,0,16979,16037	5	0	6	8
chr3	195788160	195788160	G	0	exonic	MUC4	.	.	.	.	.	491	837	111	0	83	194	0.0621849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3337.77	769	chr3	195788160	.	G	A,*	3337.77	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=4.67;DP=6056;ExcessHet=4.3158;FS=5.294;InbreedingCoeff=-0.2121;MLEAC=7,2;MLEAF=0.219,0.063;MQ=55.72;MQRankSum=-1.019e+01;QD=1.10;ReadPosRankSum=-3.087e+00;SOR=1.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:416,0,278:699:99:.:.:7253,8256,26164,0,16979,16037	8	0	6	5
chr3	195788174	195788174	-	GGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.3405_3406insCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACC:p.T1135_S1136insPLPVTDTSSASTGHAT	.	.	488	888	63	0	83	146	0.0342577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.555e-05	0.0009	0	0	0	0	0	0	.	.	.	rs771837975	2.281e-05	3.548e-05	2.724e-05	1.804e-05	0.0009	1.466e-05	1.244e-05	0.0005	0.0004	0.0009	0.0002	0	0	0	0	0	9.08e-05	2.878e-05	0.0006	0.0007	0.0009	0.0003	0.0030	0.0003	0.0002	0.0016	0.0012	0.0030	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4342.47	769	chr3	195788174	.	A	AGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG,G,*	4342.47	.	AC=1,1,2;AF=0.031,0.031,0.063;AN=32;BaseQRankSum=-2.450e-01;DP=6545;ExcessHet=0.8031;FS=4.477;InbreedingCoeff=0.0186;MLEAC=1,1,2;MLEAF=0.031,0.031,0.063;MQ=56.80;MQRankSum=-7.739e+00;QD=2.23;ReadPosRankSum=-3.187e+00;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:416,0,0,278:699:99:.:.:7253,8256,26164,8256,26164,26164,0,16979,16979,16037	12	0	1	5
chr3	195788174	195788174	A	0	exonic	MUC4	.	.	.	.	.	488	888	63	0	83	146	0.0342577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4342.47	769	chr3	195788174	.	A	AGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG,G,*	4342.47	.	AC=1,1,2;AF=0.031,0.031,0.063;AN=32;BaseQRankSum=-2.450e-01;DP=6545;ExcessHet=0.8031;FS=4.477;InbreedingCoeff=0.0186;MLEAC=1,1,2;MLEAF=0.031,0.031,0.063;MQ=56.80;MQRankSum=-7.739e+00;QD=2.23;ReadPosRankSum=-3.187e+00;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:416,0,0,278:699:99:.:.:7253,8256,26164,8256,26164,26164,0,16979,16979,16037	12	0	1	5
chr3	195868026	195868026	C	T	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.G2323A:p.V775I	.	.	404	1115	3	0	0	3	0.00134348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.987	D	0.718	P	0.000	D	1.000	D	1.085	L	0.02	T	-0.790	T	0.224	T	0.202	0.790	8.164	5.01	2.336	3.118	10.606	0.066	.	.	0.00199681	0.0024	0	0.0006	0	0	6.561e-05	0	0.0113	0.0010673	165	154602	rs374516264	0.0006	0.0006	0.0004	0.0009	0.0098	0.0006	0.0006	0.0093	0.0091	3.015e-05	0	0	0	0	0	4.528e-06	0.0007	0.0098	0.0003	0.0003	0.0001	0.0006	0.0100	0.0003	0.0002	0.0077	0.0069	2.41e-05	0	6.544e-05	0	0	0	0	0	0	0.0100	0.255	0.20988	T	0.383	0.15842	T	0.1	0.40310	B	0.038	0.38015	B	0.000100	0.51296	D	0.132319	0.605194	0.30907	N	1.09	0.27330	L	0.02	0.62318	T	-0.42	0.14193	N	0.254	0.28965	-0.7898	0.55741	T	0.224	0.58830	T	10	0.008366138	0.00190	T	.	.	.	0.066	0.19193	0.325	0.30711	0.892865083199	0.89180	0.07277636421169242	0.07214	0.0273910062881	0.02796	0.697601079941	0.66798	T	0.010425	0.37623	T	-0.444379	0.01219	T	-0.403135	0.33020	T	0.050120169936457	0.05522	T	0.90061	0.65471	D	0.052386805	0.09761	0.042214483	0.04976	0.052386805	0.09761	0.042214483	0.04976	-6.235	0.48205	T	.	.	0.099	0.18206	B	.;.;.;.	.;.;.;.	2.282722	0.29193	18.04	0.95765105423950136	0.27762	0.93491	0.58361	D	AEFDBI	0.258221	0.37681	N	-0.0399630058004559	0.40051	2.372041	0.0396837988985944	0.41576	2.500129	0.999487585662999	0.39952	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.01	5.01	0.66477	3.202000	0.50769	3.994000	0.41014	0.593000	0.32247	0.988000	0.36536	0.999000	0.35428	0.086000	0.17578	0.0:0.9106:0.0:0.0894	10.606	0.44586	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	0.02381	1182.98	59	chr3	195868026	.	C	T	1182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.544e+00;DP=992;ExcessHet=0.0000;FS=1.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.48;ReadPosRankSum=-1.588e+00;SOR=0.764	GT:AD:DP:GQ:PL	0/1:21,43:64:99:1197,0,628	20	0	1	0
chr4	516050	516050	C	G	exonic	PIGG	.	nonsynonymous SNV	PIGG:NM_001289052:exon4:c.C580G:p.P194A	Mental retardation, autosomal recessive 53, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	520207	Intellectual_disability,_autosomal_recessive_53	MONDO:MONDO:0014832,MedGen:C4310794,OMIM:616917,Orphanet:488635	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.972	D	0.000	D	0.999	D	2.095	M	1.03	T	-0.692	T	0.218	T	0.594	2.354	13.83	4.6	2.551	2.147	11.242	0.239	0.013545391243	.	.	8.237e-05	0	0	0.0012	0	0	0	0	6.47e-05	10	154602	rs773467896	2.052e-05	2.052e-05	1.906e-05	2.2e-05	0.0007	1.456e-05	1.264e-05	0.0005	0.0005	0	0	0	0.0007	0	0	0	1.656e-05	0	5.256e-05	5.91e-05	6.423e-05	4.035e-05	0.0015	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0	0.016	0.53900	D	0.025	0.66756	D	0.936	0.70673	P	0.846	0.72692	P	0.000003	0.62929	D	0.109676	0.999263	0.46490	D	3.415	0.91848	M	1.03	0.40469	T	-5.44	0.85765	D	0.456	0.50327	-0.6918	0.60824	T	0.218	0.58111	T	10	0.13165218	0.25056	T	0.013545	0.33021	T	0.239	0.54358	0.642	0.77903	0.594397571648	0.59118	0.6477673586437052	0.64711	0.441137883739	0.44109	0.426054120064	0.28669	T	0.327949	0.75862	T	-0.326056	0.06414	T	-0.244498	0.50358	T	0.432587260663728	0.30156	T	0.982002	0.93887	D	0.2646036	0.49527	0.15967026	0.37227	0.2646036	0.49527	0.15967026	0.37226	-10.816	0.79642	D	0.9282744627795948	0.97027	0.253	0.52144	B	.;.;.;.;.;.	.;.;.;.;.;.	3.432818	0.47720	22.5	0.99219856976840892	0.55870	0.82359	0.41598	D	AEFBCI	0.209409	0.33539	N	0.446876586132851	0.64025	4.648163	0.385953512534942	0.60697	4.260346	0.865312882196312	0.25307	0.719381	0.83141	0	0.697927	0.68747	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.45	4.6	0.56512	2.170000	0.42071	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.111000	0.18785	0.0:0.9118:0.0:0.0882	11.242	0.48203	769	0.49307	.;GPI ethanolamine phosphate transferase 2, N-terminal;GPI ethanolamine phosphate transferase 2, N-terminal;.;.;GPI ethanolamine phosphate transferase 2, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1663.98	34	chr4	516050	.	C	G	1663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=0.481;SOR=0.705	GT:AD:DP:GQ:PL	0/1:71,62:133:99:1678,0,1801	20	0	1	0
chr4	1025268	1025268	-	CACA	exonic	FGFRL1	.	frameshift insertion	FGFRL1:NM_021923:exon6:c.1436_1437insCACA:p.S486Tfs*67	.	.	414	774	328	1	5	335	0.175719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	734.34	34	chr4	1025266	.	CCA	C,CCACACA	734.34	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-9.200e-02;DP=1325;ExcessHet=4.7172;FS=1.630;InbreedingCoeff=-0.2727;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=0.069;SOR=0.760	GT:AD:DP:GQ:PL	0/1:68,8,0:76:59:59,0,2156,262,2181,2443	12	0	8	0
chr4	2928309	2928309	C	G	exonic	ADD1	.	nonsynonymous SNV	ADD1:NM_001119:exon15:c.C2000G:p.P667R	.	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.009	B	0.022	B	0.862	N	1.000	N	0	N	3.58	T	-0.922	T	0.009	T	0.196	-0.462	1.866	3.13	1.132	1.950	9.123	0.032	0.0135968238702	0.0002	.	0.0004	0	0	0	0	3.001e-05	0	0.0030	0.0003299	51	154602	rs371284874	0.0002	0.0002	9.529e-05	0.0003	0.0032	0.0002	0.0002	0.0029	0.0027	2.987e-05	0	0	0	0	0	1.169e-05	0.0002	0.0032	0.0002	0.0002	0.0001	0.0002	0.0040	0.0001	9.239e-05	0.0026	0.0022	2.407e-05	0	0	0	0	0	0	5.881e-05	0	0.0040	0.377	0.12109	T	0.442	0.13365	T	0.009	0.15093	B	0.022	0.19653	B	0.861705	0.08889	N	0.933189	1	0.08975	N	1.355	0.33814	L	3.57	0.04645	T	0.34	0.04233	N	0.197	0.21969	-0.9218	0.45307	T	0.009	0.03140	T	10	0.0047896504	0.00101	T	0.013597	0.33126	T	0.032	0.07718	.	.	0.161926535498	0.15789	0.10565043997215717	0.10495	0.241297701315	0.26655	0.349070340395	0.17785	T	0.171145	0.51916	T	-0.593645	0.00159	T	-0.62981	0.10430	T	0.0204978199015859	0.00749	T	0.626337	0.24237	T	0.015146667	0.00124	0.032485303	0.01991	0.015146667	0.00124	0.032485303	0.01990	-5.945	0.45816	T	.	.	0.075	0.05979	B	.;.	.;.	2.452853	0.31584	18.79	0.50342391645723783	0.04367	0.40727	0.26501	N	AEFDBI	0.250112	0.37021	N	-1.09737526691969	0.06691	0.3087528	-1.03510123399584	0.09019	0.4464846	0.996820225634412	0.35039	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.0	3.13	0.35090	1.986000	0.40299	1.577000	0.27452	-0.313000	0.06017	0.023000	0.19925	0.006000	0.19429	0.175000	0.21139	0.0:0.7484:0.0:0.2516	9.123	0.35958	609	0.67094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2015.98	42	chr4	2928309	.	C	G	2015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.153;DP=960;ExcessHet=0.0000;FS=2.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=1.11;SOR=0.514	GT:AD:DP:GQ:PL	0/1:84,77:161:99:2030,0,2367	20	0	1	0
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	957.88	16	chr4	3074927	.	G	GCAA,*	957.88	.	AC=3,5;AF=0.071,0.119;AN=42;BaseQRankSum=-8.410e-01;DP=1050;ExcessHet=0.5418;FS=3.188;InbreedingCoeff=0.0867;MLEAC=3,4;MLEAF=0.071,0.095;MQ=59.47;MQRankSum=2.60;QD=4.01;ReadPosRankSum=3.51;SOR=0.920	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,15,0:37:99:0|1:3074927_G_GCAA:534,0,824,602,870,1471:3074927	14	0	2	0
chr4	5663212	5663212	G	A	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon9:c.C800T:p.P267L	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	.	0	1519	2	1	0	4	0.00131492	.	.	698573	EVC2-related_disorder|Ellis-van_Creveld_syndrome|Curry-Hall_syndrome	.|MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.04	D	0.008	B	0.002	B	0.089	N	0.993	D	1.1	L	-0.97	T	-0.893	T	0.215	T	0.093	0.729	7.873	1.19	0.028	0.434	4.552	0.086	.	0.0002	0.00139776	0.0018	0.0002	8.637e-05	0	0	1.499e-05	0.0011	0.0128	0.0014683	227	154602	rs199708349	0.0007	0.0007	0.0004	0.0010	0.0114	0.0007	0.0007	0.0108	0.0105	2.987e-05	0	0	0	0	0	3.507e-05	0.0008	0.0114	0.0004	0.0004	0.0002	0.0006	0.0108	0.0003	0.0003	0.0085	0.0076	7.221e-05	0	0	0	0	0	0	4.41e-05	0	0.0108	0.063	0.36709	T	0.369	0.18395	T	0.008	0.14655	B	0.002	0.06944	B	0.088712	0.20466	N	0.510671	0.993193	0.41864	D	0.715	0.18665	N	-0.97	0.75670	T	-1.13	0.29114	N	0.173	0.18512	-0.8926	0.48705	T	0.215	0.57626	T	10	0.009178281	0.00207	T	.	.	.	0.086	0.25016	.	.	0.677650614841	0.67491	0.1420078438159779	0.14123	0.0206719541989	0.02037	0.25815141201	0.04673	T	0.16913	0.51640	T	-0.506659	0.00524	T	-0.490169	0.23372	T	0.0259829375531896	0.01403	T	0.710329	0.32403	T	0.037136674	0.04704	0.038101792	0.03606	0.03212981	0.03181	0.039632358	0.04101	-6.029	0.46522	T	.	.	0.065	0.01960	B	.;.	.;.	0.954684	0.13308	9.812	0.72428005301053711	0.09970	0.09718	0.15411	N	AEFBI	0.032069	0.03552	N	-0.880601135276297	0.11305	0.544845	-0.850741493258517	0.13269	0.6874434	0.00270880720851673	0.09647	0.693126	0.56070	0	0.588066	0.40923	0	0.659464	0.59346	0	0.635551	0.53088	0	.	.	5.27	1.19	0.20120	0.345000	0.19720	1.143000	0.24420	-0.688000	0.04154	0.268000	0.25027	0.807000	0.27003	0.023000	0.12082	0.2038:0.0:0.3927:0.4035	4.552	0.11516	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	1	0	0	1	0	0	0	0.02381	1493.98	36	chr4	5663212	.	G	A	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.583;DP=834;ExcessHet=0.0000;FS=0.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.725;SOR=0.769	GT:AD:DP:GQ:PL	0/1:77,62:139:99:1508,0,1940	20	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.01	B	0.003	N	0.997	D	1.87	L	.	.	-0.870	T	0.178	T	0.274	3.086	16.31	1.7	0.426	3.325	6.857	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7325.55	151	chr4	6862306	.	T	C	7325.55	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.348e+00;DP=3019;ExcessHet=54.0936;FS=242.021;InbreedingCoeff=-0.9914;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.50;ReadPosRankSum=0.996;SOR=13.535	GT:AD:DP:GQ:PL	0/1:84,32:116:99:335,0,2027	0	0	21	0
chr4	7434284	7434284	C	T	exonic	PSAPL1	.	nonsynonymous SNV	PSAPL1:NM_001085382:exon1:c.G596A:p.R199Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.006	B	0.0	B	.	.	1.000	N	1.7	L	-0.26	T	-0.915	T	0.199	T	0.027	1.405	10.63	-2.78	-0.549	-0.130	9.153	0.065	0.00816420900877	0.0002	0.000399361	0.0002	0.0002	9.513e-05	0.0001	0	9.856e-05	0	0.0006	0.0001423	22	154602	rs201914640	8.49e-05	8.551e-05	5.45e-05	0.0001	0.0007	7.215e-05	6.802e-05	0.0005	0.0005	0	0	3.828e-05	2.52e-05	0.0001	0.0003	4.947e-05	3.314e-05	0.0007	4.594e-05	4.593e-05	5.138e-05	4.026e-05	0.0006	2.107e-05	1.525e-05	0.0002	8.992e-05	4.809e-05	0	6.533e-05	0	0	0	0	1.47e-05	0	0.0006	0.106	0.29688	T	0.44	0.13328	T	0.006	0.13644	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	-0.26	0.67187	T	-1.54	0.37375	N	0.044	0.01658	-0.9148	0.46246	T	0.199	0.55428	T	9	0.015075266	0.00316	T	0.008164	0.21623	T	0.065	0.18881	.	.	0.243398259712	0.23965	0.29679104876149787	0.29592	0.0282787632889	0.02904	0.26060166955	0.04963	T	0.006162	0.05598	T	-0.557134	0.00264	T	-0.680577	0.06948	T	0.0058777065342926	0.00064	T	0.351965	0.07883	T	0.03715103	0.04707	0.044231616	0.05683	0.03715103	0.04707	0.044231616	0.05683	-3.164	0.12046	T	.	.	0.067	0.02518	B	.	.	0.628836	0.09975	6.728	0.92402171228265961	0.21815	0.01007	0.03804	N	AEFBI	0.034806	0.04376	N	-1.35193499269304	0.03105	0.138168	-1.45968237978319	0.02684	0.1238862	0.969912602143163	0.29166	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.61	-2.78	0.05512	-0.302000	0.08259	-0.636000	0.08101	-1.560000	0.00949	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3005:0.0:0.6995	9.153	0.36140	994	0.00715	Saposin B type domain|Saposin B type domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1999.98	70	chr4	7434284	.	C	T	1999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=2046;ExcessHet=0.0000;FS=5.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-1.930e-01;SOR=1.045	GT:AD:DP:GQ:PL	0/1:107,79:186:99:2014,0,2702	20	0	1	0
chr4	8475841	8475841	C	T	exonic	TRMT44	.	nonsynonymous SNV	TRMT44:NM_001350233:exon11:c.C1391T:p.A464V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.135	B	0.011	B	0.140	N	1.000	N	1.81	L	2.25	T	-0.999	T	0.034	T	0.09	1.793	11.95	2.63	0.227	0.433	6.502	0.031	0.00441609078812	.	0.00159744	0.0009	0	0	0	0	3e-05	0	0.0063	0.0007438	115	154602	rs571853951	0.0004	0.0004	0.0002	0.0006	0.0060	0.0004	0.0004	0.0056	0.0054	0	2.236e-05	0.0001	0	0	0.0003	2.698e-05	0.0004	0.0060	0.0002	0.0002	0.0001	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	1.47e-05	0	0.0058	0.295	0.14743	T	0.312	0.19599	T	0.135	0.27304	B	0.011	0.15521	B	0.140247	0.18315	N	0.528820	1	0.08975	N	1.605	0.40863	L	2.25	0.17761	T	-1.24	0.31375	N	0.043	0.01577	-0.9987	0.30283	T	0.034	0.14509	T	10	0.004200518	0.00084	T	0.004416	0.10781	T	0.031	0.07369	.	.	0.0482279557977	0.04254	0.23124681871890104	0.23039	0.0243839190157	0.02475	0.309274017811	0.11798	T	0.006379	0.05814	T	-0.652293	0.00070	T	-0.707554	0.05422	T	0.0242981679095647	0.01183	T	0.494051	0.15283	T	0.027809083	0.02027	0.03583002	0.02910	0.027809083	0.02027	0.03583002	0.02909	-4.489	0.30744	T	.	.	0.089	0.11989	B	.	.	0.413374	0.07843	4.538	0.98067752076030268	0.37999	0.05533	0.11426	N	AEFDBI	0.035034	0.04443	N	-0.788180795192711	0.13618	0.672135	-0.833665618112507	0.13681	0.711019	0.984160794603849	0.30674	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.32	2.63	0.30420	0.259000	0.18174	0.022000	0.13604	-0.189000	0.09497	0.001000	0.13787	0.018000	0.20648	0.001000	0.02609	0.0:0.6209:0.1362:0.2428	6.502	0.21371	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1389.98	33	chr4	8475841	.	C	T	1389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.380;DP=868;ExcessHet=0.0000;FS=2.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.80;ReadPosRankSum=0.128;SOR=0.908	GT:AD:DP:GQ:PL	0/1:95,63:158:99:1404,0,2304	20	0	1	0
chr4	23813780	23813780	C	T	exonic	PPARGC1A	.	nonsynonymous SNV	PPARGC1A:NM_001330753:exon7:c.G1322A:p.R441H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.923	P	0.197	B	0.000	D	1.000	D	2.28	M	0.99	T	-0.842	T	0.125	T	0.486	3.251	16.90	5.32	1.611	3.493	17.664	0.101	0.0106794832021	.	.	1.651e-05	0	8.661e-05	0	0	1.501e-05	0	0	1.29e-05	2	154602	rs767722215	2.122e-05	2.257e-05	2.315e-05	1.926e-05	2.52e-05	1.521e-05	1.325e-05	1.747e-05	1.504e-05	0	2.236e-05	0	2.52e-05	0	0	2.519e-05	1.656e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.414e-05	2.19e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.037	0.43085	D	0.012	0.63918	D	0.923	0.51194	P	0.197	0.36707	B	0.000013	0.62929	D	0.151171	0.999993	0.58761	D	2.045	0.56016	M	0.99	0.41750	T	-2.04	0.46842	N	0.219	0.29429	-0.8423	0.52493	T	0.125	0.42903	T	10	0.2892067	0.46502	T	0.010679	0.27493	T	0.101	0.28911	0.244	0.17830	0.473786764527	0.47009	0.1914486806013194	0.19062	0.268764524174	0.29397	0.464526027441	0.33930	T	0.471349	0.80408	T	-0.197063	0.21228	T	-0.351715	0.39008	T	0.698980331420898	0.40670	D	0.965803	0.87368	D	0.1701599	0.37575	0.12542795	0.30221	0.1701599	0.37574	0.12542795	0.30221	-6.742	0.52126	T	.	.	0.112	0.23500	B	.;.	.;.	5.410074	0.90561	31	0.9970831713007382	0.81143	0.94721	0.62102	D	AEFBI	0.699247	0.65665	D	0.405720027305195	0.61736	4.378818	0.459821592983369	0.65351	4.812705	0.999998618468188	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.16	5.32	0.75377	4.489000	0.60035	3.342000	0.37715	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8771:0.1229:0.0	17.664	0.88104	505	0.75648	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1380.98	35	chr4	23813780	.	C	T	1380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.013;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=0.610;SOR=0.722	GT:AD:DP:GQ:PL	0/1:73,58:131:99:1395,0,1815	20	0	1	0
chr4	55098774	55098774	T	A	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon16:c.A2296T:p.I766F,	Hemangioma, capillary infantile, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.993	D	0.839	P	0.000	D	1.000	D	1.63	L	-1.24	T	-0.055	T	0.477	T	0.594	2.748	15.15	4.8	2.283	4.223	11.511	0.507	0.2150493001	.	.	3.305e-05	0	8.726e-05	0	0	0	0.0022	6.066e-05	2.59e-05	4	154602	rs141493431	7.529e-06	7.524e-06	5.448e-06	9.631e-06	0.0002	4.04e-06	2.95e-06	4.579e-05	3.273e-05	0	0	0	0	0	0.0002	0	3.314e-05	9.277e-05	6.569e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.005	0.72224	D	0.993	0.65571	D	0.839	0.60107	P	0.000171	0.48594	D	0.179902	1	0.81001	D	2.475	0.71894	M	-1.24	0.78967	T	-3.2	0.64710	D	0.586	0.60664	-0.0546	0.81108	T	0.477	0.79976	T	10	0.7390729	0.74828	D	0.215049	0.87488	D	0.507	0.78786	0.472	0.54699	0.19168177325	0.18762	0.7395255652782425	0.73897	0.762294146699	0.64330	0.581488251686	0.50295	T	0.545221	0.84501	D	-0.103063	0.35918	T	-0.0936708	0.63884	T	0.805408656597137	0.46725	D	0.954605	0.82717	D	0.6768797	0.76801	0.43152794	0.66768	0.6768797	0.76803	0.43152794	0.66768	-6.481	0.50140	T	.	.	0.375	0.58144	A	.;.	.;.	3.621383	0.51253	23.1	0.98536523714634261	0.42657	0.95957	0.66890	D	AEFGBI	0.802545	0.72794	D	0.445876558438516	0.63969	4.641371	0.412624606222634	0.62349	4.449029	0.99953586469023	0.40238	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.97	4.8	0.61157	2.319000	0.43447	5.113000	0.47528	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0696:0.0:0.9304	11.511	0.49746	700	0.57880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1104.98	34	chr4	55098774	.	T	A	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.110e-01;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-5.830e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/1:36,48:84:99:1119,0,786	20	0	1	0
chr4	55864320	55864320	A	G	exonic	EXOC1	.	nonsynonymous SNV	EXOC1:NM_001024924:exon4:c.A349G:p.K117E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.996	D	0.000	D	1.000	D	2.35	M	.	.	-0.117	T	0.441	T	0.893	4.866	27.8	5.28	2.117	8.910	15.489	0.415	0.0126112862705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.012	0.63918	D	0.952	0.77913	P	0.829	0.84481	P	0.000000	0.84330	D	0.089061	1	0.81001	D	2.31	0.66127	M	.	.	.	-2.58	0.55662	D	0.854	0.87590	-0.1166	0.79714	T	0.441	0.77928	T	9	0.83472383	0.82630	D	0.012611	0.31334	T	0.415	0.72555	0.482	0.56302	0.906822451116	0.90589	0.6183190342715053	0.61764	0.679222454985	0.59926	0.83840918541	0.87852	D	0.416574	0.76948	T	0.428361	0.91451	D	0.377535	0.91345	D	0.987091779708862	0.77660	D	0.957954	0.84201	D	0.58183545	0.71708	0.5667625	0.74922	0.58183545	0.71709	0.5667625	0.74922	-11.787	0.84227	D	.	.	0.978	0.92404	P	.;.;.	.;.;.	4.929267	0.81258	27.5	0.99898347336834525	0.97048	0.98467	0.83083	D	AEGBI	0.921638	0.89544	D	0.771775303428171	0.84315	8.253221	0.751222830809216	0.86247	8.828958	0.999999999948835	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.28	5.28	0.74118	8.867000	0.91934	11.247000	0.90615	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.489	0.75320	904	0.23766	Exocyst complex component Sec3, PIP2-binding N-terminal domain|Exocyst complex component Sec3, PIP2-binding N-terminal domain;Exocyst complex component Sec3, PIP2-binding N-terminal domain|Exocyst complex component Sec3, PIP2-binding N-terminal domain;Exocyst complex component Sec3, PIP2-binding N-terminal domain|Exocyst complex component Sec3, PIP2-binding N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	865.98	34	chr4	55864320	.	A	G	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.432;DP=748;ExcessHet=0.0000;FS=0.896;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-1.044e+00;SOR=0.748	GT:AD:DP:GQ:PL	0/1:33,38:71:99:880,0,720	20	0	1	0
chr4	68945392	68945392	A	C	exonic	UGT2A3	.	nonsynonymous SNV	UGT2A3:NM_024743:exon2:c.T778G:p.W260G,	.	.	1	1406	110	5	0	120	0.0409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.977	D	0.000	D	1.000	D	3.515	H	0.11	T	-0.005	T	0.447	T	0.662	2.807	15.35	3.23	1.465	5.405	9.770	0.429	.	0.0028	0.00698882	0.0073	0.0005	0.0013	0	0	0.0036	0.0145	0.0372	0.00641	991	154602	rs62641705	0.0041	0.0041	0.0028	0.0053	0.0384	0.0040	0.0039	0.0373	0.0369	0.0003	0.0010	0.0215	7.576e-05	5.629e-05	0.0172	0.0014	0.0057	0.0384	0.0030	0.0030	0.0030	0.0030	0.0359	0.0027	0.0027	0.0315	0.0298	0.0002	0	0.0015	0.0239	0.0002	0.0003	0.0102	0.0022	0.0033	0.0359	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.986033	0.81001	D	3.65	0.94181	H	0.11	0.61208	T	-12.01	0.99630	D	0.741	0.74098	-0.0049	0.82155	T	0.447	0.78252	T	10	0.012360334	0.00266	T	.	.	.	0.429	0.73590	.	.	0.758552508207	0.75635	0.49207756518636214	0.49128	0.0192299428785	0.01881	0.445290029049	0.31300	T	0.210524	0.57104	T	-0.218644	0.18177	T	-0.0596829	0.66354	T	0.126290748303984	0.15035	T	.	.	.	0.91043717	0.92336	0.72808266	0.83935	0.91043717	0.92337	0.72808266	0.83936	-10.86	0.78884	D	.	.	0.635	0.70300	P	.	.	3.289622	0.45108	22.1	0.97635165120610046	0.35046	0.95821	0.66297	D	AEFBI	0.805579	0.73012	D	0.596173627938472	0.72934	5.884708	0.424873680903011	0.63117	4.539405	0.998945740685995	0.38034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.23	3.23	0.36150	5.361000	0.65845	.	.	0.572000	0.28966	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	9.770	0.39750	644	0.63734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	3725.92	38	chr4	68945392	.	A	C	3725.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.18;DP=994;ExcessHet=0.6776;FS=0.758;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=0.591;SOR=0.746	GT:AD:DP:GQ:PL	0/1:55,35:90:99:671,0,1343	17	0	4	0
chr4	69849488	69849488	G	C	exonic	SULT1E1	.	nonsynonymous SNV	SULT1E1:NM_005420:exon5:c.C445G:p.P149A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.000	D	1.000	D	2.585	M	4.5	T	-1.163	T	0.029	T	0.453	2.377	13.91	2.93	1.162	6.079	10.867	0.193	0.0131373881031	.	0.000798722	0.0004	0	0	0.0035	0	0	0	0.0008	0.000304	47	154602	rs201072711	9.797e-05	9.783e-05	9.543e-05	0.0001	0.0009	8.456e-05	7.933e-05	0.0007	0.0007	2.995e-05	0	0	0.0009	0	0	1.801e-06	0.0004	0.0009	0.0002	0.0002	0.0002	0.0002	0.0031	0.0001	0.0001	0.0019	0.0016	4.818e-05	0	0	0	0.0031	0	0	0	0.0005	0.0017	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.000008	0.62929	D	0.000000	0.999758	0.48800	D	2.56	0.74772	M	4.5	0.02032	T	-7.66	0.95511	D	0.414	0.45426	-1.1633	0.00680	T	0.029	0.12278	T	10	0.020682633	0.00481	T	0.013137	0.32307	T	0.193	0.47281	.	.	0.39619538035	0.39233	0.38764159274352417	0.38679	0.545111410704	0.51550	0.423236250877	0.28281	T	0.776179	0.94050	D	-0.41072	0.01966	T	-0.368295	0.37088	T	0.262163618598239	0.23409	T	0.671533	0.28021	T	0.8186462	0.85129	0.6211235	0.77927	0.8186462	0.85130	0.6211235	0.77928	-8.403	0.63785	D	.	.	0.261	0.49606	B	.	.	4.019595	0.59363	24.1	0.99151870470984527	0.53848	0.96038	0.67252	D	AEFDGBIJ	0.576458	0.57844	D	0.490731577995309	0.66546	4.964323	0.335662405669005	0.57649	3.931366	0.995972194732428	0.34444	0.487112	0.14033	0	0.491513	0.07743	0	0.573888	0.23631	0	0.649648	0.60094	0	.	.	3.78	2.93	0.33092	6.251000	0.72393	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.593000	0.31214	0.0:0.0:0.8103:0.1897	10.867	0.46069	940	0.13648	Sulfotransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	881.98	33	chr4	69849488	.	G	C	881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.885;DP=754;ExcessHet=0.0000;FS=1.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-1.363e+00;SOR=0.534	GT:AD:DP:GQ:PL	0/1:37,37:74:99:896,0,864	20	0	1	0
chr4	72128857	72128857	T	A	exonic	NPFFR2	.	nonsynonymous SNV	NPFFR2:NM_004885:exon2:c.T266A:p.I89K	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.986	D	0.000	D	1.000	D	3.725	H	0.95	T	-0.003	T	0.381	T	0.754	4.704	26.1	5.9	2.251	7.892	15.994	0.605	0.0547274034075	.	.	8.24e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs773354770	7.53e-06	7.526e-06	2.725e-06	1.238e-05	8.118e-05	4.04e-06	2.95e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	2.7e-06	1.657e-05	8.118e-05	1.315e-05	1.314e-05	1.285e-05	1.345e-05	6.553e-05	2.18e-06	8.2e-07	.	.	0	0	6.553e-05	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.986	0.76916	D	0.000029	0.55875	D	0.000000	1	0.81001	D	4.15	0.97575	H	0.95	0.43279	T	-5.11	0.83092	D	0.746	0.77883	-0.0032	0.82190	T	0.381	0.73751	T	10	0.9021411	0.89576	D	0.054727	0.65965	D	0.605	0.84452	0.765	0.89293	0.94654867403	0.94598	0.8174305243737258	0.81700	0.268094114089	0.29338	0.640053808689	0.58571	T	0.329833	0.70009	T	-0.0236972	0.48323	T	-0.0691619	0.65685	T	0.993349611759186	0.84107	D	0.964804	0.88325	D	0.7506211	0.80904	0.88012445	0.93570	0.7506211	0.80906	0.88012445	0.93571	-15.412	0.96743	D	.	.	0.880	0.83071	P	.;.;.	.;.;.	4.864309	0.79626	27.1	0.9665040308232965	0.30589	0.94850	0.62546	D	AEFDHCI	0.903712	0.85313	D	0.983987794198021	0.95231	13.42708	0.916923502971081	0.96268	14.49468	0.999988326699474	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	7.898000	0.85965	7.598000	0.61467	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.993000	0.69303	0.0:0.0:0.0:1.0	15.994	0.80019	717	0.55835	GPCR, rhodopsin-like, 7TM;.;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2685.98	33	chr4	72128857	.	T	A	2685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.732;DP=905;ExcessHet=0.0000;FS=3.292;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-2.320e+00;SOR=0.486	GT:AD:DP:GQ:PL	0/1:98,107:205:99:2700,0,2393	20	0	1	0
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8813.52	57	chr4	87615398	.	T	C,*	8813.52	.	AC=13,3;AF=0.310,0.071;AN=42;BaseQRankSum=-1.140e-01;DP=1014;ExcessHet=1.5101;FS=0.523;InbreedingCoeff=-0.0096;MLEAC=13,3;MLEAF=0.310,0.071;MQ=59.94;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-8.740e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:20,21,0:41:99:514,0,716,575,779,1353	8	3	7	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	6438.4	35	chr4	87615730	.	ATAG	A,*	6438.4	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=2.60;DP=1174;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.85;MQRankSum=-3.073e+00;QD=6.83;ReadPosRankSum=1.06;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,38:38:99:.:.:1648,1648,1648,115,115,0	0	2	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	5806.96	35	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	C,*	5806.96	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=1.10;DP=1195;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.82;MQRankSum=-3.073e+00;QD=6.42;ReadPosRankSum=0.870;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,38:38:99:.:.:1648,1648,1648,115,115,0	0	2	2	0
chr4	87615936	87615936	A	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	4716.91	13	chr4	87615936	.	A	G,*	4716.91	.	AC=11,7;AF=0.458,0.292;AN=24;BaseQRankSum=1.09;DP=703;ExcessHet=0.4078;FS=6.971;InbreedingCoeff=0.0517;MLEAC=16,10;MLEAF=0.667,0.417;MQ=57.27;MQRankSum=-3.640e+00;QD=9.93;ReadPosRankSum=0.431;SOR=1.090	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,6,0:36:99:0|1:87615911_A_C:162,0,1242,252,1260,1512:87615911	0	3	4	9
chr4	87615956	87615956	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	3111.82	11	chr4	87615956	.	T	C,*	3111.82	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=1.06;DP=620;ExcessHet=2.6845;FS=12.079;InbreedingCoeff=-0.0149;MLEAC=17,9;MLEAF=0.708,0.375;MQ=57.02;MQRankSum=-4.168e+00;QD=7.06;ReadPosRankSum=-1.842e+00;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,6,0:30:99:0|1:87615911_A_C:180,0,990,252,1008,1260:87615911	0	3	5	9
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	3076.15	8	chr4	87615962	.	C	T,*	3076.15	.	AC=12,6;AF=0.462,0.231;AN=26;BaseQRankSum=0.443;DP=591;ExcessHet=0.7589;FS=9.385;InbreedingCoeff=0.0947;MLEAC=17,8;MLEAF=0.654,0.308;MQ=56.96;MQRankSum=-4.002e+00;QD=7.24;ReadPosRankSum=-1.720e+00;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,6,0:28:99:0|1:87615911_A_C:186,0,906,252,924,1176:87615911	1	4	4	8
chr4	87615971	87615971	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	1753.25	7	chr4	87615971	.	C	T,*	1753.25	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=0.430;DP=572;ExcessHet=0.9330;FS=12.644;InbreedingCoeff=-0.0283;MLEAC=16,9;MLEAF=0.667,0.375;MQ=57.48;MQRankSum=-4.485e+00;QD=4.26;ReadPosRankSum=-1.839e+00;SOR=1.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,5,0:28:99:0|1:87615911_A_C:141,0,951,210,966,1176:87615911	0	3	5	9
chr4	89248723	89248723	A	G	exonic	GPRIN3	.	nonsynonymous SNV	GPRIN3:NM_198281:exon2:c.T1388C:p.L463P,	.	.	432	1086	3	1	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.012	B	0.006	B	0.784	N	1.000	N	0.345	N	2.65	T	-0.960	T	0.016	T	0.096	1.543	11.11	-3.02	-0.341	-0.529	1.080	0.015	.	0.0002	0.00698882	0.0042	0	0.0004	0.0005	0	0.0001	0.0044	0.0297	0.0036739	568	154602	rs151231128	0.0018	0.0018	0.0010	0.0026	0.0278	0.0018	0.0017	0.0269	0.0265	8.961e-05	8.944e-05	0	0.0004	1.872e-05	0.0026	8.004e-05	0.0021	0.0278	0.0009	0.0009	0.0005	0.0013	0.0257	0.0008	0.0007	0.0220	0.0207	4.813e-05	0	0	0	0.0010	0	0	5.88e-05	0.0009	0.0257	0.108	0.29420	T	0.323	0.18959	T	0.012	0.16265	B	0.006	0.12133	B	0.783641	0.06669	N	1.183400	0.999985	0.18198	N	0.975	0.24501	L	2.65	0.12676	T	-0.67	0.19297	N	0.106	0.10198	-0.9602	0.39143	T	0.016	0.06711	T	10	0.0023795068	0.00035	T	.	.	.	0.015	0.02232	.	.	0.0138822411134	0.00435	0.10690090498556341	0.10620	0.0600706684607	0.06680	0.278780698776	0.07323	T	0.003473	0.02879	T	-0.693168	0.00040	T	-0.746152	0.03638	T	0.00469239226640054	0.00050	T	0.335866	0.07168	T	0.047295425	0.08062	0.076753885	0.17030	0.047295425	0.08061	0.076753885	0.17030	-3.361	0.14537	T	.	.	0.075	0.07460	B	.;.	.;.	0.473282	0.08429	5.185	0.90898581102564713	0.20147	0.02745	0.07425	N	AEFDBI	0.062074	0.11910	N	-1.12306451680512	0.06234	0.2864517	-1.16467511038423	0.06509	0.3135067	0.999978954908935	0.50053	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.89	-3.02	0.05116	-0.508000	0.06426	0.350000	0.17468	0.756000	0.94297	0.031000	0.20493	0.006000	0.19429	0.023000	0.12082	0.1894:0.1341:0.3172:0.3593	1.080	0.01539	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	0.02381	2058.98	86	chr4	89248723	.	A	G	2058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.055e+00;DP=1739;ExcessHet=0.0000;FS=2.073;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-6.350e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/1:67,82:149:99:2073,0,1858	20	0	1	0
chr4	94664051	94664051	A	G	exonic	PDLIM5	.	nonsynonymous SNV	PDLIM5:NM_001256425:exon12:c.A800G:p.H267R	.	.	427	1084	11	0	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	1.0	D	1.0	D	0.000	D	1.000	D	1.925	M	0.65	T	-0.631	T	0.213	T	0.424	4.495	24.1	5.78	2.198	9.339	16.103	0.446	.	0.0074	0.00399361	0.0079	0.0018	0.0026	0.0001	0.0230	0.0099	0.0077	0.0052	0.0077295	1195	154602	rs76352571	0.0098	0.0098	0.0097	0.0099	0.0107	0.0097	0.0096	0.0106	0.0105	0.0011	0.0022	0.0008	0	0.0230	0.0012	0.0107	0.0086	0.0054	0.0076	0.0076	0.0073	0.0079	0.0114	0.0072	0.0071	0.0107	0.0105	0.0016	0	0.0020	0.0006	0.0006	0.0230	0.0034	0.0114	0.0061	0.0039	0.007	0.59928	D	0.014	0.92824	D	0.992	0.90584	D	0.989	0.97372	D	0.000005	0.62929	D	0.105778	1	0.81001	D	0.1	0.08449	N	0.65	0.58029	T	-5.47	0.89152	D	0.608	0.69037	-0.6314	0.63511	T	0.213	0.57388	T	10	0.00881511	0.00200	T	.	.	.	0.446	0.74797	.	.	0.836370529571	0.83480	0.6732097579457009	0.67258	0.5818623181	0.53964	0.7609770298	0.76073	T	0.083552	0.87510	T	-0.339443	0.05426	T	-0.249332	0.49882	T	0.0225501479514637	0.00971	T	0.940606	0.77652	D	0.6682194	0.76337	0.6900932	0.81766	0.6682194	0.76339	0.6900932	0.81767	-10.267	0.75957	D	.	.	0.351	0.79163	A	.;.;.;.;.	.;.;.;.;.	4.724063	0.76021	26.4	0.9981425809924922	0.89797	0.99372	0.95168	D	AEFBI	.	.	.	0.744661387980843	0.82558	7.792073	0.752460654985872	0.86340	8.857948	0.999999999999896	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.78	5.78	0.91418	7.342000	0.78550	11.221000	0.89777	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.103	0.81002	872	0.31118	Zinc finger, LIM-type;.;Zinc finger, LIM-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1273.98	36	chr4	94664051	.	A	G	1273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=850;ExcessHet=0.0000;FS=0.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=0.954;SOR=0.790	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1288,0,993	20	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.973	D	0.964	D	0.274	N	0.986	N	1.745	L	3.67	T	-1.090	T	0.040	T	0.61	3.658	18.60	2.36	0.190	4.136	8.164	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.45	6049.22	166	chr4	99318097	.	C	G	6049.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-2.037e+00;DP=3479;ExcessHet=30.0624;FS=302.606;InbreedingCoeff=-0.7873;MLEAC=19;MLEAF=0.475;MQ=59.97;MQRankSum=0.00;QD=2.22;ReadPosRankSum=-1.750e-01;SOR=13.960	GT:AD:DP:GQ:PL	0/1:110,47:157:99:149,0,1815	2	0	18	1
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	6153.33	123	chr4	99347057	.	C	G	6153.33	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-8.170e-01;DP=2885;ExcessHet=20.9642;FS=293.864;InbreedingCoeff=-0.6783;MLEAC=17;MLEAF=0.425;MQ=59.97;MQRankSum=0.00;QD=3.24;ReadPosRankSum=-6.350e-01;SOR=13.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,43:120:99:.:.:244,0,975	4	0	16	1
chr4	99591235	99591235	G	A	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_001300785:exon5:c.G583A:p.V195I	Abetalipoproteinemia, Autosomal recessive	YES	0	1475	46	1	0	48	0.0160107	0.7313	0.39	294778	not_specified|not_provided|Abetalipoproteinaemia	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.98	D	0.825	P	0.000	D	1.000	D	2.2	M	1.96	T	-0.785	T	0.114	T	0.074	4.510	24.2	5.07	1.519	4.075	13.015	0.123	.	0.0078	0.00778754	0.0102	0.0020	0.0086	0.0118	0.0045	0.0117	0.0077	0.0118	0.0099093	1532	154602	rs61750974	0.0097	0.0097	0.0095	0.0099	0.0176	0.0096	0.0095	0.0148	0.0138	0.0017	0.0083	0.0304	0.0103	0.0061	0.0176	0.0092	0.0120	0.0133	0.0079	0.0079	0.0080	0.0079	0.0129	0.0075	0.0074	0.0105	0.0095	0.0021	0	0.0084	0.0337	0.0129	0.0035	0.0170	0.0099	0.0123	0.0124	0.0	0.91255	D	0.0	0.92824	D	0.967	0.59353	D	0.761	0.59331	P	0.000254	0.46924	D	0.221763	0.950724	0.37708	D	2.75	0.80375	M	1.96	0.41750	T	-0.44	0.14588	N	0.114	0.11054	-0.7853	0.56002	T	0.114	0.40536	T	9	0.009104729	0.00291	T	.	.	.	0.123	0.34020	.	.	.	.	0.1991287038952996	0.19829	0.239867016436	0.26532	0.383642137051	0.22772	T	0.022931	0.43860	T	-0.542262	0.00325	T	-0.538724	0.18423	T	0.064671118824304	0.07882	T	0.652235	0.30204	T	0.045035552	0.07302	0.063721694	0.12664	0.037605893	0.04852	0.063721694	0.12664	-4.065	0.24772	T	0.2709707601705125	0.36454	0.084	0.09772	B	.;.;.;.	.;.;.;.	3.787366	0.54495	23.5	0.9976857270100743	0.85666	0.80525	0.40140	D	AEFI	0.722971	0.67273	D	0.448519150340318	0.64118	4.659456	0.44791500378416	0.64582	4.716802	0.387949059409406	0.20020	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	5.07	0.68106	4.279000	0.58747	3.962000	0.40756	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0749:0.0:0.9251:0.0	13.015	0.58159	918	0.19598	.;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, 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	0.02381	853.98	36	chr4	99591235	.	G	A	853.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.023;DP=733;ExcessHet=0.0000;FS=1.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.79;ReadPosRankSum=-3.130e-01;SOR=0.408	GT:AD:DP:GQ:PL	0/1:17,31:48:99:868,0,440	20	0	1	0
chr4	99650604	99650604	C	T	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G4045A:p.A1349T,	.	.	420	1044	54	4	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	.	.	.	.	.	.	.	.	-0.145	N	1.41	T	-1.030	T	0.024	T	0.017	-1.325	0.032	-8.69	-3.019	-3.390	6.006	0.021	.	.	0.00179712	0.0219	0.0018	0.0106	0	0	0.0301	0.0152	0.0205	0.0028784	445	154602	rs578237898	0.0078	0.0074	0.0072	0.0084	0.0200	0.0077	0.0076	0.0191	0.0188	0.0010	0.0018	0.0485	0.0001	0.0099	0.0153	0.0064	0.0100	0.0200	0.0074	0.0074	0.0072	0.0075	0.0149	0.0070	0.0068	0.0121	0.0111	0.0014	0.0592	0.0029	0.0430	0	0.0096	0.0034	0.0092	0.0057	0.0149	0.634	0.05091	T	0.191	0.28391	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.41	0.33412	T	-0.33	0.12472	N	0.003	0.00016	-1.0305	0.20292	T	0.024	0.10284	T	6	0.001952678	0.00027	T	.	.	.	0.021	0.04004	.	.	.	.	0.16156227208077273	0.16077	.	.	.	.	.	0.002784	0.02176	T	-0.757066	0.00016	T	-0.844654	0.01031	T	0.00761506947138638	0.00088	T	0.423058	0.11286	T	0.02955128	0.02469	0.043511447	0.05428	0.02955128	0.02468	0.043511447	0.05428	-3.841	0.21418	T	.	.	0.064	0.01645	B	.	.	-1.237357	0.00495	0.011	0.4261979673845796	0.03154	0.00836	0.03355	N	AEFBI	0.062861	0.12112	N	-1.44376705273793	0.02266	0.09988632	-1.59410947096352	0.01691	0.07681173	0.999992599705002	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.34	-8.69	0.00741	-3.446000	0.00521	-6.698000	0.01329	-1.792000	0.00636	0.000000	0.06391	0.000000	0.08366	0.684000	0.33659	0.3552:0.1775:0.0:0.4673	6.006	0.18778	926	0.17793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4666.11	35	chr4	99650604	.	C	T	4666.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.03;DP=1301;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=0.235;SOR=0.706	GT:AD:DP:GQ:PL	0/1:68,88:156:99:2448,0,1676	19	0	2	0
chr4	105645150	105645221	TATGTTTGTGAAACTGATATTATTTATCTGTATTGTAGAGGCAAACCAAACTTATTGGACATGGGCTCTTTG	-	exonic	ARHGEF38	.	stopgain	ARHGEF38:NM_001242729:exon6:c.675_708del:p.G226*,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	6.131e-05	0.0003	0.0050	0.0001	0.0001	0.0044	0.0041	0	0	0	0	0	0	3.301e-06	8.776e-05	0.0050	7.889e-05	8.543e-05	2.573e-05	0.0001	0.0025	4.499e-05	3.514e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1186.94	34	chr4	105645149	.	ATATGTTTGTGAAACTGATATTATTTATCTGTATTGTAGAGGCAAACCAAACTTATTGGACATGGGCTCTTTG	A	1186.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.26;DP=920;ExcessHet=0.0000;FS=5.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.35;ReadPosRankSum=-1.735e+00;SOR=1.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,57:222:99:0|1:105645111_CATAAAAACACACAAAAATGAAAATGTGTTAA_C:1201,0,6766:105645111	20	0	1	0
chr4	106095633	106095633	C	G	exonic	TBCK	.	nonsynonymous SNV	TBCK:NM_033115:exon23:c.G2231C:p.R744P	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, Autosomal recessive	.	438	1080	4	0	0	4	0.00184843	.	.	1016350	not_provided|Inborn_genetic_diseases|Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014823,MedGen:C5567480,OMIM:616900,Orphanet:488632	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.963	D	0.000	D	1.000	D	2.845	M	1.69	T	-0.617	T	0.210	T	0.938	4.628	25.3	5.41	2.541	6.444	19.224	0.491	0.0573226821713	.	.	0.0002	0	0	0	0	0.0001	0	0.0009	0.0001488	23	154602	rs767308208	8.633e-05	8.619e-05	6.817e-05	0.0001	0.0009	7.365e-05	6.914e-05	0.0008	0.0007	0	2.253e-05	0.0002	0	0	0.0002	3.331e-05	4.974e-05	0.0009	3.289e-05	3.284e-05	5.143e-05	1.347e-05	5.882e-05	1.262e-05	7.99e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.882e-05	0.0005	0	0.005	0.65419	D	0.02	0.60337	D	0.995	0.73220	D	0.963	0.70837	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.98	0.85499	M	1.69	0.27032	T	-4.32	0.76900	D	0.773	0.91047	-0.6173	0.64100	T	0.210	0.57027	T	10	0.60560703	0.67156	D	0.057323	0.66924	D	0.491	0.77783	.	.	0.599340405529	0.59615	0.8619260174308797	0.86156	0.495246887071	0.48067	0.642485022545	0.58917	T	0.082936	0.36940	T	-0.0270628	0.47842	T	0.112936	0.77768	D	0.664440751075745	0.39090	D	0.950705	0.81197	D	0.81326807	0.84770	0.74857193	0.85139	0.81326807	0.84771	0.74857193	0.85140	-12.771	0.88955	D	0.6017755914367349	0.66883	0.952	0.90360	P	.;.;.;.;.	.;.;.;.;.	5.571477	0.92222	32	0.99739527035648423	0.83409	0.97595	0.75784	D	AEFDBI	0.910251	0.86793	D	0.817555428722142	0.87192	9.133472	0.760782168029906	0.86961	9.060004	0.999999995888727	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.688494	0.62686	0	0.699875	0.68795	0	.	.	5.41	5.41	0.78313	6.579000	0.73923	7.539000	0.60051	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	19.224	0.93797	687	0.59234	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	806.98	34	chr4	106095633	.	C	G	806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=749;ExcessHet=0.0000;FS=2.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=1.21;SOR=0.416	GT:AD:DP:GQ:PL	0/1:32,28:60:99:821,0,774	20	0	1	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.47	M	-0.26	T	0.412	D	0.664	D	0.981	4.876	27.9	5.42	2.704	7.410	19.578	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	1269.88	119	chr4	106925843	.	C	T	1269.88	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.410e+00;DP=2366;ExcessHet=2.5830;FS=168.069;InbreedingCoeff=-0.2387;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=1.25;ReadPosRankSum=0.981;SOR=11.937	GT:AD:DP:GQ:PL	0/1:87,27:114:40:40,0,1728	12	0	7	2
chr4	112657309	112657309	A	T	exonic	LARP7	.	nonsynonymous SNV	LARP7:NM_001370974:exon13:c.A1770T:p.R590S	Alazami syndrome, Autosomal recessive	.	146	1375	1	0	0	1	0.000363504	.	.	1896016	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.969	D	0.691	P	0.000	D	1.000	D	0.805	L	1.95	T	-1.016	T	0.035	T	0.783	3.983	20.4	-5.05	-0.411	-0.042	3.581	0.263	0.00958926074955	7.7e-05	0.000199681	0.0001	0	0	0	0	0	0	0.0009	9.7e-05	15	154602	rs374867509	6.019e-05	6.296e-05	2.924e-05	9.148e-05	0.0008	4.989e-05	4.6e-05	0.0007	0.0006	0	0	0	0	0	0	1.374e-05	5.078e-05	0.0008	4.616e-05	4.6e-05	1.288e-05	8.103e-05	0.0010	2.116e-05	1.531e-05	0.0004	0.0003	4.84e-05	0	0	0	0	0	0	0	0	0.0010	0.004	0.65419	D	0.013	0.63109	D	0.969	0.56768	D	0.691	0.53831	P	0.000000	0.84330	D	0.000000	0.999954	0.52396	D	0.805	0.20218	L	1.95	0.22678	T	-2.58	0.55662	D	0.605	0.62781	-1.0156	0.25143	T	0.035	0.15247	T	10	0.07439554	0.11365	T	0.009589	0.25085	T	0.263	0.57612	0.37	0.38013	0.344251166708	0.34027	0.5117142340689719	0.51093	0.309992911721	0.33310	0.552654027939	0.46231	T	.	.	.	-0.259369	0.12973	T	-0.224603	0.52293	T	0.318342119455338	0.25754	T	0.847515	0.52873	T	0.4683241	0.65188	0.2511518	0.50721	0.43413705	0.63023	0.20444964	0.44569	-7.725	0.59181	D	0.5057288860391432	0.58023	0.748	0.76179	P	.;.;.	.;.;.	3.046352	0.40863	21.2	0.99129562604261667	0.53222	0.59687	0.30984	D	AEFBI	0.118915	0.23232	N	-0.38620518094572	0.25960	1.413178	-0.480764548168716	0.22684	1.233316	0.23533555404089	0.18512	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.42	-5.05	0.02733	0.032000	0.13620	-0.203000	0.10926	-0.065000	0.16512	0.726000	0.28882	0.002000	0.18203	0.990000	0.65344	0.3755:0.1618:0.3701:0.0925	3.581	0.07502	772	0.48957	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	575.98	33	chr4	112657309	.	A	T	575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.130e-01;DP=792;ExcessHet=0.0000;FS=0.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=0.392;SOR=0.892	GT:AD:DP:GQ:PL	0/1:36,26:62:99:590,0,961	20	0	1	0
chr4	117084757	117084757	A	C	exonic	TRAM1L1	.	nonsynonymous SNV	TRAM1L1:NM_152402:exon1:c.T637G:p.L213V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.977	D	0.951	D	0.000	D	0.834	D	2.41	M	-1.94	D	0.295	D	0.656	D	0.448	0.869	8.523	-5.02	-1.076	-0.091	11.384	0.478	0.0900372469944	.	.	4.944e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs753941185	2.941e-05	2.941e-05	1.361e-05	4.538e-05	0.0005	2.216e-05	1.97e-05	0.0003	0.0003	0	0	0	0	0	0	0	4.967e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.039	0.51112	D	0.977	0.58535	D	0.951	0.68939	D	0.000002	0.62929	D	0.000000	0.834429	0.34968	D	2.91	0.84121	M	-1.94	0.84919	D	-2.18	0.49187	N	0.439	0.47765	0.295	0.87476	D	0.656	0.88046	D	10	0.48046285	0.60399	T	0.090037	0.75442	D	0.478	0.76946	0.639	0.77579	0.633585262028	0.63058	0.12914456840242203	0.12839	0.876777066871	0.69606	0.433916509151	0.29745	T	0.495748	0.81834	T	-0.207659	0.19710	T	-0.219908	0.52745	T	0.661491274833679	0.38961	D	0.967253	0.88140	D	0.13906237	0.32138	0.1519059	0.35763	0.13906237	0.32138	0.1519059	0.35762	-7.239	0.55761	T	.	.	0.325	0.54854	B	.	.	1.951046	0.24781	16.52	0.97569212834111629	0.34670	0.09758	0.15441	N	AEFBCI	0.059458	0.11232	N	-0.739117081982676	0.14930	0.748025	-1.06778028820492	0.08341	0.409664	0.99988768476575	0.44867	0.487112	0.14033	0	0.573888	0.26702	0	0.507148	0.09336	0	0.651492	0.60203	0	.	.	3.88	-5.02	0.02759	-0.328000	0.07988	-1.270000	0.05855	-0.576000	0.04747	0.000000	0.06391	0.000000	0.08366	0.165000	0.20815	0.3058:0.0:0.6942:0.0	11.384	0.49015	958	0.09170	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2272.98	35	chr4	117084757	.	A	C	2272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.381e+00;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-2.260e-01;SOR=0.694	GT:AD:DP:GQ:PL	0/1:96,94:190:99:2287,0,2488	20	0	1	0
chr4	119271801	119271801	G	C	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1788C:p.K596N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.82	P	0.035	N	0.786	D	2.015	M	0.48	T	-0.407	T	0.243	T	0.062	4.042	20.7	3.71	1.263	1.359	9.652	0.112	0.0273671481651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.025	0.56192	D	0.998	0.73220	D	0.82	0.59072	P	0.035464	0.24640	N	0.405874	0.786313	0.34330	D	2.585	0.75554	M	0.48	0.55945	T	-1.65	0.39503	N	0.403	0.44379	-0.4066	0.71818	T	0.243	0.61142	T	10	0.2934904	0.46923	T	0.027367	0.50187	D	0.112	0.31546	0.179	0.08626	0.68695168648	0.68427	0.14079476716113953	0.14002	0.636712139675	0.57440	0.475926458836	0.35496	T	0.095754	0.39686	T	-0.159747	0.26799	T	-0.467242	0.25814	T	0.965206325054169	0.67194	D	0.876112	0.58827	D	0.22674352	0.45361	0.18983121	0.42352	0.22674352	0.45362	0.18983121	0.42351	-6.968	0.53800	T	.	.	0.529	0.65890	A	.;.	.;.	3.288410	0.45089	22.1	0.99870641327622545	0.94815	0.94427	0.61130	D	AEFDBI	0.426737	0.49097	N	0.437979510911287	0.63525	4.587841	0.405475257690823	0.61905	4.397378	0.999808580347288	0.43304	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.47	3.71	0.41733	1.781000	0.38274	2.576000	0.33390	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2234:0.0:0.7766:0.0	9.652	0.39066	546	0.72524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1923	286.74	129	chr4	119271801	.	G	C	286.74	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.983e+00;DP=2647;ExcessHet=1.1607;FS=242.086;InbreedingCoeff=-0.2765;MLEAC=7;MLEAF=0.269;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=1.51;SOR=10.248	GT:AD:DP:GQ:PL	0/1:101,19:129:19:19,0,2378	8	0	5	8
chr4	121764985	121764985	C	T	exonic	SMIM43	.	nonsynonymous SNV	SMIM43:NM_001384332:exon1:c.G121A:p.G41R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343404033	0	4.771e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.569e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2973375	0.47295	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.49235	B	.	.	4.081666	0.60724	24.3	0.75329312785104041	0.11033	0.72831	0.35636	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999999573021053	0.74766	0.11394	0.02926	0	0.166317	0.03975	0	0.183864	0.04481	0	0.166187	0.04126	0	0.934145	0.59467	4.27	4.27	0.50009	1.966000	0.40105	7.305000	0.58104	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.402000	0.26827	0.0:1.0:0.0:0.0	12.397	0.54723	794	0.45591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.48	76	chr4	121764985	.	C	T	34.48	.	AC=2;AF=0.071;AN=28;DP=76;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3573;MLEAC=2;MLEAF=0.071;MQ=60.00;QD=17.24;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	13	1	0	7
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	729.72	57	chr4	134199956	.	C	T	729.72	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.043e+00;DP=1459;ExcessHet=4.7172;FS=120.348;InbreedingCoeff=-0.3900;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=-2.920e-01;SOR=8.830	GT:AD:DP:GQ:PL	0/1:75,20:95:11:11,0,1540	7	0	9	5
chr4	139730437	139730439	CTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2310del:p.Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,105,0:105:99:4685,316,0,4685,316,4685	0	20	0	0
chr4	139730431	139730439	CTGCTGCTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2316del:p.Q770_Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	1.94e-05	3	154602	rs760330670	0.0001	0.0002	0.0001	0.0001	0.0001	9.839e-05	9.263e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0.0001	5.542e-05	4.047e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.181e-05	7.731e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,105,0:105:99:4685,316,0,4685,316,4685	0	20	0	0
chr4	139889919	139889924	TGCTGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1517del:p.Q509_Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,41,0,0,0:99:99:.:.:1447,0,2089,1571,2232,3840,1571,2232,3840,3840,1571,2232,3840,3840,3840	12	0	3	0
chr4	139889910	139889924	TGCTGCTGCTGCTGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1526del:p.Q506_Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369025793	0.0004	0.0005	0.0004	0.0004	0.0082	0.0004	0.0004	0.0063	0.0057	0.0029	0.0007	3.924e-05	0.0003	1.908e-05	0.0082	0.0003	0.0008	0.0002	0.0029	0.0029	0.0033	0.0025	0.0035	0.0025	0.0024	0.0025	0.0023	0.0029	0	0.0022	0	0.0026	0	0.0233	0.0035	0.0093	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,41,0,0,0:99:99:.:.:1447,0,2089,1571,2232,3840,1571,2232,3840,3840,1571,2232,3840,3840,3840	12	0	3	0
chr4	139889922	139889924	TGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1514del:p.Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,41,0,0,0:99:99:.:.:1447,0,2089,1571,2232,3840,1571,2232,3840,3840,1571,2232,3840,3840,3840	12	0	3	0
chr4	139889924	139889924	-	TGC	exonic	MAML3	.	nonframeshift insertion	MAML3:NM_018717:exon2:c.1511_1512insGCA:p.Q510_H511insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,41,0,0,0:99:99:.:.:1447,0,2089,1571,2232,3840,1571,2232,3840,3840,1571,2232,3840,3840,3840	12	0	3	0
chr4	143697457	143697457	G	0	exonic	FREM3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	94707.57	120	chr4	143697457	.	G	C,*	94707.57	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;QD=32.86;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,127,0:127:99:.:.:4558,381,0,4558,381,4558	0	20	0	0
chr4	146230289	146230289	A	G	exonic	REELD1	.	nonsynonymous SNV	REELD1:NM_001371071:exon7:c.A1357G:p.T453A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0103834	.	.	.	.	.	.	.	.	0.0064162	167	26028	rs77205054	0.0046	0.0019	0.0048	0.0045	0.0395	0.0044	0.0043	0.0358	0.0344	0.0006	0.0395	0	0.0331	4.802e-05	0	0.0002	0.0034	0.0007	0.0031	0.0031	0.0029	0.0034	0.0207	0.0029	0.0028	0.0188	0.0181	0.0007	0	0.0207	0	0.0199	0	0	0.0001	0.0066	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038356185	0.00072	T	.	.	.	.	.	.	.	.	.	0.08587838804973866	0.08521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239076	0.03406	T	0.037881546	0.04942	0.10580671	0.25442	0.037881546	0.04941	0.10580671	0.25442	-3.142	0.11785	T	.	.	0.077	0.06571	B	.	.	-0.182387	0.03181	0.522	0.66680353389787728	0.08130	0.01253	0.04406	N	AEFBI	.	.	.	.	.	.	.	.	.	0.98472601553049	0.30765	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.164407	0.28455	5.53	-5.34	0.02496	0.606000	0.23891	-0.134000	0.11587	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.367000	0.26044	0.2792:0.1124:0.6084:0.0	12.043	0.52760	894	0.26265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	85.34	55	chr4	146230289	.	A	G	85.34	.	AC=2;AF=0.091;AN=22;DP=55;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3691;MLEAC=3;MLEAF=0.136;MQ=60.00;QD=21.33;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0	10	1	0	10
chr4	146639314	146639314	-	GGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGC:p.G68_R69insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772231658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:0,49,0,0,0:49:99:2006,147,0,2007,147,2007,2007,147,2007,2007,2007,147,2007,2007,2007	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGCGGC:p.G68_R69insGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:0,49,0,0,0:49:99:2006,147,0,2007,147,2007,2007,147,2007,2007,2007,147,2007,2007,2007	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGC:p.G68_R69insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:0,49,0,0,0:49:99:2006,147,0,2007,147,2007,2007,147,2007,2007,2007,147,2007,2007,2007	0	10	4	0
chr4	151226083	151226083	C	T	exonic	SH3D19	.	nonsynonymous SNV	SH3D19:NM_001378121:exon2:c.G116A:p.R39H	.	.	1197	315	6	4	0	14	0.0217391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0485224	.	.	.	.	.	.	.	.	0.0024321	376	154602	rs371652018	0.0045	0.0035	0.0041	0.0050	0.2094	0.0044	0.0044	0.2041	0.2019	0.0007	0.0002	0.0007	0.0003	0	0.0089	0.0003	0.0115	0.2094	0.0074	0.0074	0.0039	0.0110	0.2154	0.0070	0.0068	0.2045	0.2001	0.0009	0	0.0002	0.0003	0.0008	9.43e-05	0.0034	0.0004	0.0028	0.2154	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1.60554e-35	0.81001	P	.	.	.	.	.	.	.	.	.	0.151	0.15469	.	.	.	.	.	.	.	0.0015856624	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680532	0.28920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.44397	B	.	.	3.147079	0.42591	21.6	0.94374952466773865	0.24744	0.84785	0.43874	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999959241	0.74766	0.262962	0.04601	0	0.063388	0.01293	0	0.292756	0.05521	0	0.159066	0.04077	0	0.98146	0.87219	5.92	5.92	0.95557	2.389000	0.44060	2.202000	0.31296	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.094	0.89410	449	0.79428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	5138.44	37	chr4	151226083	.	C	T	5138.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.368;DP=1017;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-1.150e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1102,0,850	16	0	5	0
chr4	158608039	158608039	A	-	exonic	RXFP1	.	frameshift deletion	RXFP1:NM_001253728:exon5:c.433delA:p.K145Nfs*9	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0022	0.0002329	36	154602	rs756658609	0.0001	0.0001	5.112e-05	0.0002	0.0017	9.236e-05	8.76e-05	0.0015	0.0014	0	0	0	0	0	0.0002	9.125e-07	5.022e-05	0.0017	3.283e-05	3.281e-05	1.285e-05	5.371e-05	0.0010	1.26e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1847.94	34	chr4	158608038	.	TA	T	1847.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.060e+00;DP=854;ExcessHet=0.0000;FS=1.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.35;ReadPosRankSum=1.33;SOR=0.855	GT:AD:DP:GQ:PL	0/1:51,62:113:99:1862,0,1476	20	0	1	0
chr4	159353588	159353588	C	T	exonic	RAPGEF2	.	nonsynonymous SNV	RAPGEF2:NM_014247:exon22:c.C3710T:p.A1237V	.	.	426	1088	7	1	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.004	B	0.000	D	1.000	D	-0.46	N	1.34	T	-1.029	T	0.042	T	0.143	-0.441	1.951	5.8	2.741	3.688	20.054	0.138	.	0.0002	0.00539137	0.0027	0.0004	0.0003	0.0001	0	0	0	0.0276	0.0023932	370	154602	rs201405934	0.0014	0.0014	0.0007	0.0021	0.0229	0.0013	0.0013	0.0221	0.0217	6.179e-05	2.48e-05	0	0.0001	0	0.0004	9.063e-06	0.0012	0.0229	0.0009	0.0009	0.0004	0.0013	0.0264	0.0007	0.0007	0.0227	0.0213	4.817e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0264	1.0	0.00964	T	0.915	0.02917	T	0.01	0.15535	B	0.004	0.10090	B	0.000000	0.84330	D	0.052754	0.999684	0.48270	D	-0.235	0.03917	N	1.34	0.34841	T	-0.34	0.12661	N	0.133	0.12913	-1.0292	0.20713	T	0.042	0.17952	T	10	0.0050828457	0.00110	T	.	.	.	0.138	0.37187	.	.	0.171220215726	0.16700	0.20072392675649475	0.19989	0.196474976537	0.22011	0.685498595238	0.65058	T	0.072291	0.34418	T	-0.559852	0.00254	T	-0.560708	0.16311	T	0.0295655141126503	0.01922	T	0.89801	0.64352	D	0.06763808	0.14664	0.12388532	0.29868	0.06763808	0.14664	0.12388532	0.29867	-4.521	0.31162	T	.	.	0.196	0.42346	B	.;.;.	.;.;.	2.564744	0.33223	19.28	0.11703427839285747	0.00183	0.92334	0.55472	D	AEFDBIJ	0.274240	0.38947	N	-0.588917354232447	0.19280	1.007815	-0.389115920902321	0.25319	1.391733	0.999999998777403	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	3.735000	0.54767	2.239000	0.31595	0.599000	0.40250	0.998000	0.41325	0.975000	0.29991	0.082000	0.17360	0.0:1.0:0.0:0.0	20.054	0.97644	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1494.98	37	chr4	159353588	.	C	T	1494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.345e+00;DP=841;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=-2.350e-01;SOR=0.669	GT:AD:DP:GQ:PL	0/1:72,65:137:99:1509,0,1829	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.952	P	0.4	B	0.000	D	1.000	D	.	.	1.78	T	-0.892	T	0.126	T	0.825	3.426	17.58	3.71	2.022	4.314	13.859	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	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.09524	305.29	14	chr4	189953101	.	C	T	305.29	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.690e-01;DP=450;ExcessHet=0.6776;FS=1.232;InbreedingCoeff=-0.1117;MLEAC=4;MLEAF=0.095;MQ=53.46;MQRankSum=-2.187e+00;QD=4.49;ReadPosRankSum=1.26;SOR=0.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,4:24:99:0|1:189953101_C_T:108,0,756:189953101	17	0	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.168	16.60	3.53	1.917	8.872	13.458	.	.	.	.	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	320.37	17	chr4	189953126	.	G	T	320.37	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.690e-01;DP=417;ExcessHet=0.6776;FS=2.758;InbreedingCoeff=-0.1133;MLEAC=4;MLEAF=0.095;MQ=52.68;MQRankSum=-2.362e+00;QD=5.09;ReadPosRankSum=1.34;SOR=0.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,4:21:99:0|1:189953101_C_T:117,0,682:189953101	17	0	4	0
chr4	189957422	189957422	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A457G:p.N153D,	.	.	0	1406	116	0	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.481	P	0.6	P	0.000	D	1.000	D	2.93	M	1.75	T	-0.731	T	0.247	T	0.482	3.097	16.34	2.99	0.593	9.035	8.215	0.284	.	.	.	0.0034	0.0111	0.0022	0.0049	0.0016	0.0035	0.0030	0.0014	.	.	.	rs75883191	6.849e-07	6.84e-07	1.363e-06	0	2.238e-05	0	0	.	.	0	2.238e-05	0	0	0	0	0	0	0	1.314e-05	1.313e-05	0	2.689e-05	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.004	0.65419	D	0.07	0.57587	T	0.481	0.36761	P	0.6	0.50752	P	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	.	.	.	1.75	0.50459	T	-4.0	0.76900	D	0.695	0.70000	-0.7313	0.58898	T	0.247	0.61612	T	10	0.013607591	0.00288	T	.	.	.	0.284	0.60219	.	.	0.704975094451	0.70241	0.7640813165263183	0.76356	0.838637053971	0.67932	0.781378507614	0.79136	T	0.42077	0.77238	T	-0.0161202	0.49404	T	-0.260932	0.48731	T	0.0720136476709602	0.08931	T	.	.	.	0.8752744	0.89283	0.81120354	0.88976	0.8752744	0.89284	0.81120354	0.88977	-10.66	0.77761	D	.	.	0.624	0.69861	P	.;.;.	.;.;.	4.011073	0.59175	24.1	0.992698776368236	0.57525	0.98165	0.80163	D	AEDGBI	0.835604	0.75348	D	0.0948467970167196	0.46223	2.865952	0.0540996136826596	0.42270	2.553819	0.999760246770189	0.42728	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	2.99	0.33673	7.501000	0.80435	10.407000	0.83325	-0.208000	0.08445	1.000000	0.71638	1.000000	0.68203	0.290000	0.24260	0.9006:0.0:0.0994:0.0	8.215	0.30667	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	0.04762	54.21	63	chr4	189957422	.	A	G	54.21	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.609;DP=1767;ExcessHet=0.1072;FS=3.745;InbreedingCoeff=-0.0535;MLEAC=2;MLEAF=0.048;MQ=47.97;MQRankSum=-1.120e+00;QD=0.29;ReadPosRankSum=-6.380e-01;SOR=1.022	GT:AD:DP:GQ:PL	0/1:91,12:103:22:22,0,2433	19	0	2	0
chr5	169474	169474	A	G	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon14:c.A3611G:p.H1204R,	.	.	424	1090	7	1	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.03	B	0.02	B	.	.	0.990	N	-1.805	N	0.08	T	-0.999	T	0.027	T	0.078	-2.354	0.004	0.437	-0.341	5.201	6.780	0.218	.	0.0016	0.0091853	0.0064	0.0042	0.0008	0.0020	0	7.5e-05	0.0033	0.0426	0.0055239	854	154602	rs61750331	0.0027	0.0027	0.0015	0.0039	0.0398	0.0026	0.0026	0.0387	0.0383	0.0032	0.0007	0	0.0017	0	0.0009	8.543e-05	0.0036	0.0398	0.0025	0.0025	0.0018	0.0032	0.0421	0.0023	0.0022	0.0374	0.0355	0.0039	0	0.0004	0	0.0012	0	0	8.819e-05	0	0.0421	1.0	0.00964	T	1.0	0.01155	T	0.03	0.20002	B	0.02	0.19048	B	.	.	.	.	0.989976	0.24230	N	-2.07	0.00169	N	0.08	0.61559	T	1.37	0.00867	N	0.16	0.16725	-0.9985	0.30339	T	0.027	0.11397	T	9	0.0026985705	0.00042	T	.	.	.	0.218	0.51265	.	.	0.225902525712	0.22197	0.32225822215449323	0.32138	0.0999883255849	0.11303	0.264199435711	0.05401	T	0.040859	0.25665	T	-0.550711	0.00289	T	-0.533848	0.18904	T	0.00788626651126651	0.00093	T	0.815518	0.47040	T	0.028916806	0.02304	0.042368334	0.05031	0.028916806	0.02303	0.042368334	0.05030	-0.158	0.00410	T	.	.	0.075	0.05360	B	.;.	.;.	0.794125	0.11644	8.231	0.29920102873735588	0.01611	0.13629	0.17964	N	AEFDBHCIJ	0.045823	0.07537	N	-1.17976520588638	0.05306	0.2415864	-1.0481916977212	0.08745	0.4314519	0.999999987070736	0.74766	0.718356	0.82227	0	0.573888	0.26702	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	3.41	0.437	0.15767	5.306000	0.65546	0.080000	0.14378	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.052000	0.15357	0.361:0.0:0.639:0.0	6.780	0.22827	912	0.21483	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3579.11	36	chr5	169474	.	A	G	3579.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.272e+00;DP=1005;ExcessHet=0.1072;FS=6.094;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=0.016;SOR=1.008	GT:AD:DP:GQ:PL	0/1:74,85:159:99:1955,0,1720	19	0	2	0
chr5	484604	484604	C	T	exonic	SLC9A3	.	nonsynonymous SNV	SLC9A3:NM_001284351:exon5:c.G848A:p.R283H	Diarrhea 8, secretory sodium, congenital, Autosomal recessive	.	417	1101	4	0	0	4	0.00181324	.	.	1026658	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.022	N	0.853	D	2.455	M	2.28	T	-0.847	T	0.113	T	0.265	3.938	20.1	3.29	0.733	1.269	11.408	0.095	0.0233850214586	0.0003	0.000399361	0.0003	0	8.678e-05	0.0008	0	0.0004	0	0.0005	0.0002846	44	154602	rs146899318	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	5.974e-05	6.708e-05	0.0003	0.0007	1.902e-05	0.0023	0.0002	0.0003	0.0007	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	4.812e-05	0	0.0002	0	0.0004	9.416e-05	0	0.0003	0.0014	0.0004	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.022015	0.26719	N	0.388074	0.853253	0.35258	D	2.49	0.72568	M	2.28	0.17271	T	-3.85	0.72353	D	0.334	0.39962	-0.8467	0.52195	T	0.113	0.40445	T	10	0.050900668	0.04891	T	0.023385	0.46348	T	0.095	0.27398	.	.	0.641949208653	0.63899	0.35933213292143984	0.35847	1.56596094729	0.88112	0.463921755552	0.33848	T	0.290448	0.66322	T	-0.457765	0.01015	T	-0.475876	0.24885	T	0.141273689064633	0.16384	T	0.939506	0.77539	D	0.5140862	0.67918	0.46029967	0.68653	0.5140862	0.67919	0.46029967	0.68653	-7.297	0.57765	T	.	.	0.105	0.45786	B	.;.;.	.;.;.	4.509838	0.70607	25.5	0.99943923138679147	0.99868	0.67166	0.33334	D	AEFDGBI	0.293932	0.40443	N	0.391361608157656	0.60954	4.290212	0.278267660470065	0.54274	3.592769	0.530787217229501	0.21173	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.16	3.29	0.36801	1.475000	0.35017	2.512000	0.33079	0.599000	0.40250	0.837000	0.30238	0.995000	0.32472	0.987000	0.62547	0.0:0.9095:0.0:0.0905	11.408	0.49148	895	0.25842	Cation/H+ exchanger;Cation/H+ exchanger;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1884.98	39	chr5	484604	.	C	T	1884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=875;ExcessHet=0.0000;FS=2.914;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=0.382;SOR=0.496	GT:AD:DP:GQ:PL	0/1:71,75:146:99:1899,0,1623	20	0	1	0
chr5	7862999	7862999	-	A	splicing	FASTKD3	NM_024091:exon4:c.1525-2->T	.	.	.	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00219649	0.0050	0.0019	0.0027	0	0.0011	0.0066	0.0066	0.0059	0.000207	32	154602	rs546325772	0.0072	0.0072	0.0072	0.0071	0.0116	0.0071	0.0070	0.0094	0.0086	0.0013	0.0029	0.0020	0	0.0027	0.0116	0.0082	0.0069	0.0066	0.0047	0.0047	0.0048	0.0046	0.0075	0.0044	0.0043	0.0070	0.0068	0.0013	0	0.0037	0.0020	0	0.0035	0.0272	0.0075	0.0076	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1116.07	28	chr5	7862999	.	T	TA	1116.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.47;DP=626;ExcessHet=0.1072;FS=2.799;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.438;SOR=1.022	GT:AD:DP:GQ:PL	0/1:26,9:35:99:175,0,705	19	0	2	0
chr5	32786307	32786307	C	T	exonic	NPR3	.	nonsynonymous SNV	NPR3:NM_001364460:exon7:c.C817T:p.R273W	.	.	426	1093	3	0	0	3	0.00137049	.	.	1570732	Inborn_genetic_diseases|NPR3-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	0.805	L	0.75	T	-0.636	T	0.205	T	0.922	3.773	19.16	4.2	1.583	1.803	17.039	0.355	0.0615222187363	0.0006	0.000399361	0.0011	0	0.0010	0.0002	0.0029	0.0013	0.0032	0.0009	0.0008991	139	154602	rs142228984	0.0012	0.0013	0.0012	0.0013	0.0014	0.0012	0.0012	0.0013	0.0012	0.0001	0.0004	0	2.543e-05	0.0021	0.0003	0.0013	0.0013	0.0014	0.0009	0.0009	0.0010	0.0008	0.0023	0.0008	0.0007	0.0013	0.0011	0.0001	0	0.0002	0	0	0.0018	0	0.0014	0.0005	0.0023	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	0.999961	0.52935	D	2.045	0.56016	M	0.75	0.50192	T	-1.91	0.44471	N	0.699	0.83371	-0.6361	0.63312	T	0.205	0.56279	T	10	0.051540524	0.05051	T	0.061522	0.68359	D	0.355	0.67600	.	.	0.904445790692	0.90349	0.7448816576513672	0.74434	.	.	0.79996573925	0.81957	T	0.098695	0.65041	T	-0.0835324	0.39138	T	0.101068	0.76978	D	0.0681145236514431	0.08384	T	0.977602	0.92086	D	0.40438634	0.61035	0.32918283	0.58800	0.40438634	0.61035	0.32918283	0.58799	-6.689	0.68382	T	.	.	0.343	0.64159	A	.;.;.;.	.;.;.;.	4.721183	0.75951	26.4	0.99922296390473664	0.98852	0.72224	0.35359	D	AEFGBHCIJ	0.743746	0.68695	D	0.450440138550749	0.64226	4.672654	0.469376118130757	0.65969	4.891647	0.999999016305163	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	4.2	0.48814	2.331000	0.43552	1.391000	0.26116	0.599000	0.40250	1.000000	0.71638	0.974000	0.29927	0.997000	0.79791	0.2425:0.7575:0.0:0.0	17.039	0.86359	610	0.67008	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2346.11	37	chr5	32786307	.	C	T	2346.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.40;DP=949;ExcessHet=0.1072;FS=0.547;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.321;SOR=0.647	GT:AD:DP:GQ:PL	0/1:44,52:96:99:1293,0,930	19	0	2	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.073	B	0.025	B	0.000	D	1.000	D	0.695	N	-3.35	D	0.043	D	0.661	D	0.555	3.882	19.73	5.58	2.641	9.439	19.567	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	663.75	81	chr5	36976312	.	G	C	663.75	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.011e+00;DP=2556;ExcessHet=3.5521;FS=235.068;InbreedingCoeff=-0.4165;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=0.981;SOR=11.906	GT:AD:DP:GQ:PL	0/1:87,26:128:43:43,0,1596	4	0	8	9
chr5	79791029	79791029	G	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon11:c.G11749C:p.G3917R,	.	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	.	.	0.712	D	-0.025	N	2.54	T	-0.931	T	0.047	T	0.331	2.002	12.65	5.18	1.566	5.608	15.268	0.228	0.0144334920719	0.0006	0.000599042	0.0007	0	0.0004	0	0	0.0003	0.0035	0.0032	0.0005369	83	154602	rs200251867	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	8.961e-05	2.237e-05	0	0	1.873e-05	0.0012	0.0003	0.0006	0.0033	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	9.624e-05	0	0.0002	0	0	0	0	0.0004	0.0009	0.0027	0.053	0.38863	T	0.007	0.69154	D	1.0	0.90584	D	0.982	0.75477	D	.	.	.	.	0.712277	0.33531	D	0.45	0.12780	N	2.54	0.13916	T	-4.25	0.76094	D	0.777	0.77413	-0.9310	0.43992	T	0.047	0.20235	T	9	0.06256446	0.08018	T	0.014433	0.34542	T	0.228	0.52768	0.429	0.47680	0.490282680104	0.48660	0.43527896108451636	0.43444	0.0677024119643	0.07574	0.652367353439	0.60322	T	0.045767	0.27224	T	-0.48586	0.00685	T	-0.472471	0.25251	T	0.0931471727865737	0.11586	T	0.824218	0.48580	T	0.2376065	0.46627	0.2638827	0.52200	0.2376065	0.46627	0.2638827	0.52199	-6.313	0.48824	T	.	.	0.441	0.61750	A	.	.	4.015372	0.59269	24.1	0.98584967116556244	0.43297	0.98004	0.78799	D	AEFBI	0.635162	0.61477	D	0.379240412339841	0.60297	4.217277	0.4077176253207	0.62044	4.413534	0.0688708157179204	0.15472	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	6.05	5.18	0.71140	5.101000	0.64402	9.795000	0.81665	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.520000	0.29475	0.067:0.0:0.933:0.0	15.268	0.73371	480	0.77422	B30.2/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1678.98	33	chr5	79791029	.	G	C	1678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.633e+00;DP=819;ExcessHet=0.0000;FS=5.015;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=0.921;SOR=0.343	GT:AD:DP:GQ:PL	0/1:40,69:109:99:1693,0,1146	20	0	1	0
chr5	80082449	80082449	G	A	exonic	THBS4	.	nonsynonymous SNV	THBS4:NM_001306214:exon21:c.G2455A:p.V819I	.	.	.	.	.	.	.	.	.	.	.	749621	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.011	B	0.007	B	0.000	D	1.000	D	2.08	M	-3.62	D	0.344	D	0.756	D	0.125	2.657	14.84	3.97	1.407	4.606	13.289	0.371	0.063041462887	.	0.000998403	0.0006	0	0	0	0	0	0	0.0042	0.0004981	77	154602	rs372332310	0.0002	0.0002	0.0001	0.0003	0.0038	0.0002	0.0002	0.0035	0.0033	2.987e-05	8.944e-05	0	0	0	0	1.799e-06	0.0002	0.0038	9.85e-05	9.843e-05	6.425e-05	0.0001	0.0029	6.003e-05	4.877e-05	0.0018	0.0014	0	0	6.538e-05	0	0	0	0	0	0	0.0029	0.308	0.14111	T	0.472	0.15305	T	0.011	0.15914	B	0.007	0.12992	B	0.000002	0.62929	D	0.057910	0.999652	0.48079	D	2.2	0.62015	M	-3.62	0.95077	D	-0.71	0.20145	N	0.377	0.41853	0.344	0.88252	D	0.756	0.91689	D	10	0.013509303	0.00286	T	0.063041	0.68844	D	0.371	0.69016	0.633	0.76921	0.915201809402	0.91434	0.32415771602215515	0.32328	0.210598802773	0.23551	0.694151937962	0.66302	T	0.559878	0.85248	D	-0.292021	0.09434	T	-0.192526	0.55353	T	0.0255553715806038	0.01346	T	0.836416	0.50788	T	0.084645785	0.19601	0.078859806	0.17700	0.084645785	0.19601	0.078859806	0.17700	-6.541	0.50602	T	.	.	0.076	0.05935	B	.;.	.;.	4.465529	0.69536	25.4	0.9832566658205012	0.40290	0.85442	0.44575	D	AEFBCI	0.304904	0.41247	N	-0.0877781906011899	0.37927	2.213777	0.0293236084003497	0.41083	2.462308	0.999998114990736	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.84	3.97	0.45241	4.084000	0.57372	9.875000	0.82156	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0759:0.0:0.9241:0.0	13.289	0.59695	629	0.65079	Thrombospondin, C-terminal|Thrombospondin, C-terminal;Thrombospondin, C-terminal|Thrombospondin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	879.98	35	chr5	80082449	.	G	A	879.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=792;ExcessHet=0.0000;FS=0.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.89;ReadPosRankSum=0.250;SOR=0.809	GT:AD:DP:GQ:PL	0/1:52,37:89:99:894,0,1219	20	0	1	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2303.18	64	chr5	80654889	.	TGCAGCGGCC	T,*,CGCAGCGGCC	2303.18	.	AC=1,15,1;AF=0.024,0.357,0.024;AN=42;BaseQRankSum=0.767;DP=1593;ExcessHet=2.4516;FS=3.537;InbreedingCoeff=-0.0871;MLEAC=1,15,1;MLEAF=0.024,0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.503;SOR=0.970	GT:AD:DP:GQ:PL	0/2:44,0,59,0:103:99:2230,2362,4124,0,1762,1580,2362,4124,1762,4124	7	0	1	0
chr5	90622643	90622643	T	C	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon5:c.T500C:p.M167T,	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	0	1517	5	0	0	5	0.00164528	.	.	1155226	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.001	B	0.012	B	0.000	D	1.000	D	0	N	1.61	T	-1.085	T	0.068	T	0.17	2.095	12.96	5.85	2.234	7.624	16.234	0.109	0.0123590473518	8.3e-05	0.000399361	0.0011	0	0.0004	0	0	0.0002	0	0.0050	0.0004204	65	154602	rs201758835	0.0002	0.0003	0.0001	0.0003	0.0037	0.0002	0.0002	0.0033	0.0032	0	0	0	0	1.996e-05	0.0005	3.077e-05	0.0001	0.0037	0.0001	0.0001	5.14e-05	0.0002	0.0029	7.086e-05	5.743e-05	0.0018	0.0014	0	0	0	0	0	0	0	4.41e-05	0	0.0029	0.005	0.63226	D	0.12	0.69154	T	0.001	0.07471	B	0.012	0.16012	B	0.000001	0.62929	D	0.056320	0.874035	0.35619	D	.	.	.	0.92	0.44461	T	-0.62	0.18248	N	0.309	0.34874	-1.0849	0.06426	T	0.068	0.27913	T	10	0.009497881	0.00214	T	0.012359	0.30863	T	0.109	0.30843	.	.	0.535584383668	0.53208	0.5680420340445862	0.56732	0.0526653030617	0.05800	0.38083165884	0.22374	T	0.079986	0.36257	T	-0.487832	0.00668	T	-0.474669	0.25014	T	0.161857144073736	0.18008	T	0.19678	0.06490	T	0.29759622	0.52688	0.21308935	0.45805	0.29970396	0.52878	0.2199799	0.46756	-4.049	0.24534	T	.	.	0.272	0.50609	B	.;.;.	.;.;.	2.399188	0.30823	18.55	0.96638913245512037	0.30545	0.99065	0.90713	D	AEFBI	0.893014	0.83052	D	-0.147813536092463	0.35328	2.027793	0.0557143584712965	0.42349	2.559906	0.99999995856737	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.85	5.85	0.93663	7.604000	0.82059	4.931000	0.46129	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.204000	0.22012	0.0:0.0:0.0:1.0	16.234	0.82186	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	1	0	0	0	0	0	0	0.02381	925.98	34	chr5	90622643	.	T	C	925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.809e+00;DP=806;ExcessHet=0.0000;FS=1.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-1.191e+00;SOR=0.495	GT:AD:DP:GQ:PL	0/1:42,46:88:99:940,0,1006	20	0	1	0
chr5	98793431	98793431	C	T	exonic	RGMB	.	nonsynonymous SNV	RGMB:NM_001366508:exon3:c.C992T:p.A331V	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.822	P	0.414	B	0.000	D	0.994	D	1.79	L	-1.94	D	0.068	D	0.523	D	0.064	4.404	23.3	5.62	2.635	2.101	10.721	0.362	0.185755302479	.	0.000199681	0.0005	0	0	0	0	0	0.0013	0.0036	0.0003881	60	154602	rs560715184	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0033	0.0032	0	0	0	0	0	0	9e-07	0.0002	0.0037	9.845e-05	9.841e-05	2.569e-05	0.0002	0.0031	6e-05	4.874e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.075	0.34444	T	0.233	0.24913	T	0.822	0.45767	P	0.414	0.44907	B	0.000169	0.48594	D	0.182358	0.994304	0.42233	D	1.525	0.38595	L	-1.94	0.84919	D	-1.23	0.31170	N	0.137	0.31253	0.068	0.83589	D	0.523	0.82202	D	10	0.011619806	0.00253	T	0.185755	0.85832	D	0.362	0.68230	0.742	0.87401	0.844795248951	0.84331	0.19362992983410063	0.19280	0.605846916778	0.55455	0.473648816347	0.35183	T	0.420938	0.77249	T	-0.420691	0.01693	T	-0.378543	0.35892	T	0.0904507949826381	0.11272	T	0.817118	0.47377	T	0.0999818	0.23602	0.07937652	0.17865	0.0999818	0.23601	0.07937652	0.17865	-3.863	0.21749	T	.	.	0.153	0.33868	B	.;.	.;.	3.134155	0.42367	21.5	0.99919965878914352	0.98654	0.76000	0.37242	D	AEFDBCI	0.453297	0.50649	N	0.248688158794329	0.53574	3.52568	0.262643211792565	0.53370	3.506497	0.999999999914452	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	4.899000	0.62932	5.977000	0.52101	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0:0.8839:0.0:0.1161	10.721	0.45236	897	0.25382	Repulsive guidance molecule, C-terminal;Repulsive guidance molecule, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2141.98	33	chr5	98793431	.	C	T	2141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.220e-01;DP=853;ExcessHet=0.0000;FS=2.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=1.63;SOR=0.914	GT:AD:DP:GQ:PL	0/1:68,78:146:99:2156,0,1788	20	0	1	0
chr5	98869208	98869208	C	G	exonic	CHD1	.	nonsynonymous SNV	CHD1:NM_001364113:exon31:c.G4177C:p.E1393Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.54e-05	1.847e-05	1.575e-05	3.663e-05	0.0010	1.632e-05	1.385e-05	0.0007	0.0005	0	0	0	0	0	0	1.323e-06	0.0001	0.0010	2.633e-05	2.627e-05	0	5.39e-05	0.0008	8.15e-06	5.15e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	766.98	33	chr5	98869208	.	C	G	766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e-01;DP=817;ExcessHet=0.0000;FS=3.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.09;ReadPosRankSum=1.49;SOR=1.112	GT:AD:DP:GQ:PL	0/1:44,32:76:99:781,0,1212	20	0	1	0
chr5	113488342	113488342	-	GCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.72_73insGGC:p.S24_S25insG,	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0051	0.0015	0.0020	0	0.0005	0.0020	0.0044	0.0021345	330	154602	rs775732898	0.0008	0.0011	0.0009	0.0008	0.0099	0.0008	0.0008	0.0089	0.0085	0.0099	0.0024	0.0002	9.69e-05	0.0001	0.0026	0.0006	0.0016	0.0006	0.0034	0.0034	0.0034	0.0034	0.0095	0.0032	0.0031	0.0087	0.0084	0.0095	0	0.0045	0	0.0006	9.529e-05	0.0103	0.0006	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55421.17	118	chr5	113488342	.	T	C,TGCTGCTGCC,TGCC	55421.17	.	AC=27,7,1;AF=0.643,0.167,0.024;AN=42;BaseQRankSum=-1.446e+00;DP=2966;ExcessHet=2.5830;FS=1.369;InbreedingCoeff=-0.2000;MLEAC=27,7,1;MLEAF=0.643,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.98;ReadPosRankSum=-1.100e-02;SOR=0.803	GT:AD:DP:GQ:PL	2/3:0,0,35,52:87:99:3380,3200,4233,2190,1997,2077,1221,2163,0,2008	0	7	7	0
chr5	132331835	132331835	T	A	exonic	SLC22A4	.	nonsynonymous SNV	SLC22A4:NM_003059:exon6:c.T1031A:p.M344K,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.773	P	0.449	P	0.000	D	1.000	D	2.045	M	-0.83	T	-0.136	T	0.417	T	0.945	3.090	16.32	5.86	2.237	6.144	16.237	0.741	.	.	0.00239617	0.0010	0	0	0.0001	0	0	0	0.0073	0.0008797	136	154602	rs567645504	0.0004	0.0004	0.0002	0.0006	0.0064	0.0004	0.0004	0.0060	0.0058	2.997e-05	0	0	0	0	0	9.043e-07	0.0003	0.0064	0.0003	0.0003	0.0001	0.0005	0.0095	0.0002	0.0002	0.0073	0.0066	0	0	0	0	0.0002	0	0	0	0	0.0095	0.001	0.78490	D	0.008	0.67890	D	0.773	0.44016	P	0.449	0.46066	P	0.000049	0.53742	D	0.219363	0.999972	0.53665	D	2.255	0.64187	M	-0.83	0.74159	T	-4.48	0.77965	D	0.838	0.83371	-0.1362	0.79257	T	0.417	0.76347	T	10	0.033766598	0.01562	T	.	.	.	0.741	0.91026	0.794	0.91511	0.894952215399	0.89391	0.7926896628803942	0.79221	0.373947390385	0.38853	0.59773671627	0.52585	T	0.340913	0.70988	T	0.0285392	0.55529	T	0.271386	0.86648	D	0.237921348022358	0.22323	T	0.881012	0.60027	D	0.96043354	0.97324	0.87815297	0.93433	0.96043354	0.97324	0.87815297	0.93433	-11.908	0.84399	D	.	.	0.370	0.57823	A	.	.	4.473649	0.69731	25.4	0.97994513219571855	0.37431	0.97811	0.77307	D	AEFBI	0.708927	0.66318	D	0.420770240595015	0.62566	4.474494	0.443836844457664	0.64322	4.684738	0.999999916683625	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	6.389000	0.73129	6.150000	0.54181	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.755000	0.35964	0.0:0.0:0.0:1.0	16.237	0.82202	452	0.79239	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	0.02381	1307.98	34	chr5	132331835	.	T	A	1307.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.514;DP=802;ExcessHet=0.0000;FS=3.720;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=1.58;SOR=0.401	GT:AD:DP:GQ:PL	0/1:46,56:102:99:1322,0,1008	20	0	1	0
chr5	133225251	133225251	C	T	exonic	FSTL4	.	nonsynonymous SNV	FSTL4:NM_015082:exon10:c.G1211A:p.R404Q,	.	.	427	1088	5	2	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	1.0	D	0.99	D	0.000	D	1.000	D	0.495	N	-0.15	T	-0.646	T	0.285	T	0.65	4.819	27.3	5.91	2.793	4.392	19.287	0.222	0.0261355788112	.	0.000998403	0.0006	0	8.637e-05	0	0	2.997e-05	0	0.0039	0.0004981	77	154602	rs559312046	0.0003	0.0003	0.0001	0.0004	0.0038	0.0002	0.0002	0.0035	0.0033	0.0002	4.472e-05	0	0.0001	0	0.0002	2.428e-05	0.0003	0.0038	0.0002	0.0002	8.995e-05	0.0002	0.0033	0.0001	8.713e-05	0.0021	0.0017	0.0001	0	0	0	0	0	0	2.94e-05	0	0.0033	0.043	0.41364	D	0.01	0.65728	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.39	0.12200	N	-0.15	0.65192	T	-2.02	0.46503	N	0.772	0.81658	-0.6463	0.62874	T	0.285	0.65734	T	10	0.020723462	0.00482	T	0.026136	0.49069	D	0.222	0.51872	0.465	0.53566	0.520666329443	0.51711	0.6698088495036079	0.66918	0.876422331603	0.69590	0.599672317505	0.52857	T	0.083111	0.36981	T	-0.262806	0.12574	T	-0.150799	0.59173	T	0.103085284108736	0.12693	T	0.968203	0.88468	D	0.26498246	0.49566	0.17335956	0.39657	0.26498246	0.49565	0.17335956	0.39657	-6.412	0.54890	T	.	.	0.129	0.28607	B	.;.	.;.	5.047048	0.84037	28.2	0.99957695142386416	0.99986	0.91521	0.53705	D	AEFBI	0.473967	0.51842	N	0.525244321775104	0.68586	5.23779	0.585195928339491	0.73877	6.043055	0.999999977081792	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.91	5.91	0.95240	4.457000	0.59826	6.016000	0.52721	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	19.287	0.94064	883	0.28872	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2294.98	41	chr5	133225251	.	C	T	2294.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=896;ExcessHet=0.0000;FS=3.322;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-4.290e-01;SOR=0.481	GT:AD:DP:GQ:PL	0/1:97,93:190:99:2309,0,2208	20	0	1	0
chr5	135825729	135825729	C	A	exonic	LOC107986453	.	stopgain	LOC107986453:NM_001365196:exon3:c.C485A:p.S162X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.358e-06	0	0	.	0	0	.	.	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	986.23	99	chr5	135825729	.	C	A,T	986.23	.	AC=2,5;AF=0.091,0.227;AN=22;BaseQRankSum=0.457;DP=99;ExcessHet=0.0678;FS=1.884;InbreedingCoeff=0.1957;MLEAC=2,9;MLEAF=0.091,0.409;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-1.282e+00;SOR=0.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:2,0,4:6:31:.:.:102,108,151,0,43,31	6	1	0	10
chr5	137936408	137936408	T	C	exonic	PKD2L2	.	stoploss	PKD2L2:NM_001258449:exon12:c.T1570C:p.X524Q	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	1.059	9.323	-1.92	-0.639	-0.343	1.917	.	.	.	0.00179712	0.0022	0	0	0	0	0.0005	0.0054	0.0039	0.0003105	48	154602	rs572073558	0.0003	0.0003	0.0002	0.0004	0.0049	0.0003	0.0003	0.0045	0.0043	6.335e-05	0	0.0008	2.8e-05	0	0.0009	1.299e-05	0.0004	0.0049	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	7.218e-05	0	0	0.0023	0.0004	0	0	0	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.086	0.06322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.793708	0.00009	T	-0.912891	0.00418	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	0.013096	0.04373	1.126	0.37685849860936033	0.02498	0.00138	0.00846	N	AEFBI	.	.	.	-1.03553480352601	0.07874	0.36728	-1.17867244357731	0.06267	0.3011376	0.981631805975165	0.30290	0.088506	0.02282	0	0.084494	0.02052	0	0.059349	0.00372	0	0.09929	0.02979	0	0.131583	0.25905	5.78	-1.92	0.07203	-0.281000	0.08489	0.398000	0.17967	-1.055000	0.01629	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.1168:0.2496:0.3436:0.29	1.917	0.03100	176	0.93188	.;.;.	.	.	.	.	.	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	0.02381	354.98	35	chr5	137936408	.	T	C	354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=-3.850e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:13,13:26:99:369,0,322	20	0	1	0
chr5	139388057	139388057	A	T	exonic	MZB1	.	nonsynonymous SNV	MZB1:NM_016459:exon3:c.T377A:p.I126N,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.966	D	.	.	1.000	D	2.015	M	1.35	T	-0.755	T	0.190	T	0.767	4.183	21.7	5.01	2.115	4.843	11.037	0.262	0.0996667578985	.	0.000199681	4.623e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs533138763	3.565e-06	3.42e-06	2.815e-06	4.335e-06	2.513e-05	1.04e-06	7.6e-07	4.17e-06	1.56e-06	0	0	0	0	0	0	2.776e-06	0	2.513e-05	6.565e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	0.995	0.67487	D	0.951	0.68939	D	.	.	.	.	0.946184	0.37517	D	2.485	0.72352	M	1.35	0.34648	T	-2.57	0.55501	D	0.804	0.79986	-0.7549	0.57678	T	0.190	0.54227	T	9	0.6241717	0.68147	D	0.099667	0.77146	D	0.262	0.57482	0.395	0.42099	0.619294269282	0.61621	0.39169515182193676	0.39084	0.422886519489	0.42771	0.526842951775	0.42590	T	0.046023	0.27299	T	-0.0455973	0.45114	T	-0.108303	0.62746	T	0.949806869029999	0.63195	D	0.735226	0.35154	T	0.6054209	0.72982	0.561855	0.74647	0.6054209	0.72983	0.561855	0.74648	-5.135	0.38274	T	.	.	0.535	0.66142	A	.	.	4.654213	0.74218	26.1	0.99278866682513722	0.57834	0.66340	0.33044	D	AEFDGBCIJ	0.739958	0.68435	D	0.57441306716627	0.71580	5.672636	0.528998581499544	0.69949	5.433993	0.999999999724134	0.74766	0.608966	0.35542	0	0.52208	0.09955	0	0.769059	0.98459	0	0.635259	0.50027	0	.	.	5.01	5.01	0.66477	4.968000	0.63441	9.432000	0.80803	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	11.037	0.47028	628	0.65206	Domain of unknown function DUF3456	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1246.98	37	chr5	139388057	.	A	T	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=752;ExcessHet=0.0000;FS=0.959;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=-7.320e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:26,42:68:99:1261,0,656	20	0	1	0
chr5	140632205	140632205	G	C	exonic	CD14	.	nonsynonymous SNV	CD14:NM_000591:exon2:c.C779G:p.S260W	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.951	D	0.310	N	1.000	D	2.625	M	2.09	T	-0.913	T	0.150	T	0.415	3.025	16.09	5.02	2.832	2.105	13.159	0.261	.	.	0.00339457	0.0009	0	0	0	0	0	0	0.0064	0.0008085	125	154602	rs544582497	0.0004	0.0004	0.0002	0.0006	0.0068	0.0004	0.0004	0.0063	0.0061	0	0	0	2.52e-05	0	0.0002	1.799e-06	0.0003	0.0068	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	6.532e-05	0	0	0	0	0	0	0.0089	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.951	0.68939	D	0.310345	0.14445	N	0.591478	0.999712	0.48481	D	3.025	0.86340	M	2.09	0.20122	T	-4.55	0.78553	D	0.502	0.53445	-0.9135	0.46415	T	0.150	0.47822	T	10	0.015656829	0.00329	T	.	.	.	0.261	0.57352	0.599	0.72984	0.807289371328	0.80548	0.4169758240951955	0.41613	1.67717565842	0.89934	0.434538125992	0.29830	T	0.510112	0.82663	D	-0.400882	0.02284	T	-0.345865	0.39678	T	0.271299400904519	0.23803	T	0.908009	0.67517	D	0.4408472	0.63457	0.45733038	0.68463	0.4408472	0.63458	0.45733038	0.68463	-6.281	0.48571	T	.	.	0.200	0.42491	B	.;.	.;.	4.678418	0.74840	26.2	0.9892774312116005	0.48695	0.67983	0.33632	D	AEFDGBCI	0.685983	0.64780	D	0.66035866279194	0.77039	6.598906	0.597632147274719	0.74769	6.193838	0.999999624053404	0.74766	0.455138	0.09556	0	0.606814	0.50340	0	0.608075	0.38828	0	0.56751	0.32155	0	.	.	5.96	5.02	0.66742	1.856000	0.39028	.	.	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.582000	0.30943	0.0:0.0:0.8304:0.1696	13.159	0.58953	217	0.91564	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1503.98	34	chr5	140632205	.	G	C	1503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.38;DP=891;ExcessHet=0.0000;FS=2.240;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=0.604;SOR=0.483	GT:AD:DP:GQ:PL	0/1:79,55:134:99:1518,0,1993	20	0	1	0
chr5	140788052	140788052	G	A	exonic	PCDHA1	.	nonsynonymous SNV	PCDHA1:NM_018900:exon1:c.G1762A:p.G588S	.	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.988	D	0.954	D	0.031	N	1.000	D	3.485	M	0.56	T	-0.094	T	0.386	T	0.201	2.549	14.48	2.47	0.508	7.507	10.412	0.304	.	.	0.00219649	0.0003	0	0	0	0	0	0	0.0022	0.000304	47	154602	rs573116174	0.0001	0.0001	6.807e-05	0.0002	0.0019	0.0001	0.0001	0.0016	0.0016	0	0	0	0	0	0	1.529e-05	6.624e-05	0.0019	0.0001	0.0001	7.706e-05	0.0001	0.0033	6.505e-05	5.317e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.004	0.65419	D	0.002	0.79402	D	0.988	0.62325	D	0.915	0.69447	D	0.031369	0.25177	N	0.187417	0.902909	0.81001	D	3.295	0.90403	M	0.56	0.54540	T	-5.84	0.88431	D	0.211	0.48227	-0.0938	0.80241	T	0.386	0.74128	T	10	0.03943792	0.02435	T	.	.	.	0.304	0.62510	0.874	0.96529	0.809092775902	0.80730	0.561317527747877	0.56058	0.973992778713	0.73480	.	.	.	0.567091	0.85604	D	-0.389248	0.02720	T	-0.339168	0.40438	T	0.441755553855455	0.30494	T	0.844715	0.52235	T	0.398715	0.60643	0.42098552	0.66044	0.398715	0.60644	0.42098552	0.66045	-10.873	0.80067	D	.	.	0.152	0.37350	B	.;.	.;.	2.953320	0.39306	20.9	0.99600250706613236	0.74160	0.98256	0.80988	D	AEFDBI	0.786029	0.71624	D	0.358293787256204	0.59179	4.095187	0.109290897836092	0.45023	2.772931	0.998747326556251	0.37581	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.36	2.47	0.29113	7.640000	0.82502	.	.	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.147000	0.20199	0.0996:0.0:0.9004:0.0	10.412	0.43482	18	0.98631	.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5494.98	227	chr5	140788052	.	G	A	5494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.46;DP=3598;ExcessHet=0.0000;FS=2.445;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=0.835;SOR=0.898	GT:AD:DP:GQ:PL	0/1:212,200:412:99:5509,0,5637	20	0	1	0
chr5	141178046	141178046	C	G	exonic	PCDHB8	.	nonsynonymous SNV	PCDHB8:NM_019120:exon1:c.C12G:p.S4R,	.	.	408	1091	20	2	1	25	0.0108794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.004	B	0.006	B	.	.	1.000	N	-0.635	N	0.89	T	-1.002	T	0.031	T	0.124	-0.286	2.633	-3.25	-0.312	-3.175	3.064	0.011	.	.	0.00319489	0.0006	0	0	0	0	0	0	0.0041	0.0001035	16	154602	rs139746961	0.0002	0.0002	9.395e-05	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0	0	0	0	0	0.0002	0	0.0001	0.0031	0.0001	0.0001	0.0001	0.0002	0.0040	8.676e-05	7.265e-05	0.0026	0.0022	2.418e-05	0	0	0	0	0	0	0	0	0.0040	0.807	0.03060	T	0.683	0.06052	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	-0.19	0.09965	N	0.146	0.14763	-1.0016	0.29459	T	0.031	0.13286	T	9	0.004431993	0.00091	T	.	.	.	0.011	0.01250	0.277	0.23004	0.247872288689	0.24386	0.23063663795286632	0.22978	0.350356118389	0.36877	0.30044478178	0.10467	T	.	.	.	-0.649832	0.00073	T	-0.708005	0.05399	T	0.0111083768188328	0.00162	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.25946	B	.	.	1.143980	0.15312	11.76	0.70334129004772661	0.09262	0.01277	0.04462	N	AEFDGBHI	0.034347	0.04239	N	-1.56724184473475	0.01436	0.06265309	-1.56131216841397	0.01899	0.08660848	0.65902264758764	0.22250	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.34	-3.25	0.04765	-2.491000	0.01050	.	.	-0.268000	0.06776	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3321:0.3007:0.2832:0.084	3.064	0.05833	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2035.98	43	chr5	141178046	.	C	G	2035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=879;ExcessHet=0.0000;FS=0.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.30;MQRankSum=-3.348e+00;QD=12.80;ReadPosRankSum=-2.960e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:73,86:159:99:2050,0,1491	20	0	1	0
chr5	141187956	141187956	C	G	exonic	PCDHB9	.	nonsynonymous SNV	PCDHB9:NM_019119:exon1:c.C638G:p.T213R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	9.889e-05	0	8.637e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs200481158	5.267e-05	6.567e-05	5.173e-05	5.363e-05	5.486e-05	4.278e-05	3.953e-05	4.351e-05	3.944e-05	2.987e-05	4.472e-05	0	5.038e-05	5.616e-05	0	5.486e-05	6.624e-05	4.637e-05	6.573e-05	6.567e-05	5.139e-05	8.075e-05	0.0001	3.518e-05	2.617e-05	5.843e-05	4.24e-05	2.413e-05	0	0	0	0	9.423e-05	0	0.0001	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.55453	.	.	.	.	.	.	.	0.38546106	0.54506	T	.	.	.	.	.	.	.	0.640445485288	0.63748	0.27298334010546904	0.27211	.	.	0.467571169138	0.34347	T	.	.	.	-0.0601641	0.42881	T	-0.0875295	0.64348	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13315	B	.	.	2.545543	0.32935	19.19	0.85378223061809277	0.15855	0.67289	0.33379	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.490918053600132	0.20862	0.090766	0.02384	0	0.060609	0.00678	0	0.129117	0.03641	0	0.062806	0.01542	0	0.599746	0.40809	3.3	1.39	0.21325	0.138000	0.15838	.	.	0.333000	0.19617	0.001000	0.13787	0.000000	0.08366	0.022000	0.11911	0.0:0.7987:0.0:0.2013	9.320	0.37119	664	0.61548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3170.98	46	chr5	141187956	.	C	G	3170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=1579;ExcessHet=0.0000;FS=3.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.29;MQRankSum=3.48;QD=16.10;ReadPosRankSum=-5.000e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/1:86,111:197:99:3185,0,2206	20	0	1	0
chr5	141201667	141201667	C	G	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.C1893G:p.S631R,	.	.	67	1454	1	0	0	1	0.000343761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.793	P	0.427	B	.	.	1.000	N	1.55	L	0.71	T	-1.016	T	0.120	T	0.265	2.788	15.28	1.61	1.481	-3.816	6.885	0.074	.	.	0.00279553	0.0006	0	0	0	0	2.053e-05	0	0.0034	0.0005379	14	26028	rs552981865	0.0001	0.0001	7.67e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	2.996e-05	0	0	2.521e-05	0	0.0002	4.499e-06	0.0001	0.0021	0.0001	0.0001	0.0001	0.0001	0.0037	8.161e-05	6.718e-05	0.0024	0.0020	0	0	0	0	0.0002	0	0	0	0	0.0037	0.006	0.61437	D	0.112	0.37037	T	0.793	0.44725	P	0.427	0.45317	B	.	.	.	.	0.999999	0.08975	N	0.865	0.21413	L	0.71	0.51228	T	-4.62	0.79143	D	0.092	0.14338	-1.0161	0.24980	T	0.120	0.41865	T	9	0.010654479	0.00236	T	.	.	.	0.074	0.21613	0.57	0.69299	0.564354818415	0.56098	0.4257002839559764	0.42487	0.84291978539	0.68154	0.76929807663	0.77320	T	0.078445	0.35893	T	-0.528119	0.00394	T	-0.53631	0.18660	T	0.173299432906064	0.18802	T	0.691431	0.30091	T	0.43321013	0.62962	0.253995	0.51057	0.43321013	0.62963	0.253995	0.51056	-10.49	0.79416	D	.	.	0.591	0.68507	P	.;.	.;.	1.675101	0.21352	15.16	0.99562970733661016	0.71892	0.00456	0.02204	N	AEFI	0.033966	0.04125	N	-0.291403255609186	0.29479	1.635145	-0.378423669963681	0.25642	1.411362	0.00197084583226668	0.09045	0.553676	0.25195	0	0.588015	0.36545	0	0.667716	0.60424	0	0.567892	0.33627	0	.	.	2.64	1.61	0.22752	-3.902000	0.00381	.	.	0.299000	0.18918	0.000000	0.06391	0.000000	0.08366	0.518000	0.29429	0.163:0.539:0.298:0.0	6.885	0.23378	661	0.61838	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2337.98	43	chr5	141201667	.	C	G	2337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1568;ExcessHet=0.0000;FS=4.068;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.90;MQRankSum=-7.450e-01;QD=16.94;ReadPosRankSum=1.03;SOR=0.421	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,66:138:99:0|1:141201647_C_A:2352,0,2524:141201647	20	0	1	0
chr5	141246329	141246329	G	A	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.G751A:p.V251I,	.	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.092	B	0.162	B	.	.	1.000	N	0.575	N	0.6	T	-0.982	T	0.090	T	0.039	-1.142	0.109	1.87	0.111	-0.810	4.904	0.046	.	.	0.0113818	0.0071	0.0003	0.0003	0.0002	0	0.0001	0.0067	0.0505	0.0061319	948	154602	rs201493933	0.0033	0.0033	0.0018	0.0048	0.0525	0.0032	0.0032	0.0512	0.0507	5.974e-05	4.472e-05	0	2.519e-05	1.872e-05	0.0014	8.543e-05	0.0032	0.0525	0.0018	0.0018	0.0010	0.0026	0.0528	0.0016	0.0015	0.0475	0.0454	7.217e-05	0	0.0002	0	0	0	0.0068	2.94e-05	0.0009	0.0528	0.66	0.04699	T	0.457	0.12704	T	0.092	0.25296	B	0.162	0.34839	B	.	.	.	.	1	0.08975	N	0.675	0.16386	N	0.6	0.53731	T	-0.4	0.13805	N	0.066	0.03841	-0.9822	0.34491	T	0.090	0.34491	T	9	0.0020648837	0.00029	T	.	.	.	0.046	0.12618	.	.	0.318252033908	0.31440	0.06980877514002182	0.06918	0.345746040021	0.36478	0.304533541203	0.11081	T	0.002681	0.02075	T	-0.676693	0.00050	T	-0.706814	0.05461	T	0.00608197774286687	0.00067	T	0.790821	0.43180	T	0.021916268	0.00821	0.033994257	0.02388	0.021916268	0.00821	0.033994257	0.02388	-3.611	0.18016	T	.	.	0.072	0.13644	B	.;.	.;.	1.051115	0.14322	10.90	0.63020088864006962	0.07114	0.09355	0.15128	N	AEFBI	0.095803	0.19350	N	-0.870866606196103	0.11540	0.5574341	-0.841176895145729	0.13499	0.7006277	0.295757623239657	0.19136	0.608746	0.35421	0	0.573888	0.26702	0	0.731467	0.93227	0	0.620846	0.47308	0	.	.	5.13	1.87	0.24559	-0.446000	0.06910	.	.	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.570000	0.30651	0.2845:0.278:0.4375:0.0	4.904	0.13140	689	0.59000	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	0	0	0	1	0	0	0	0.02381	2276.98	125	chr5	141246329	.	G	A	2276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.470e-01;DP=1131;ExcessHet=0.0000;FS=0.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=0.166;SOR=0.756	GT:AD:DP:GQ:PL	0/1:72,85:157:99:2291,0,1952	20	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.941	N	1.000	N	-1.57	N	-1.1	T	-1.019	T	0.099	T	0.051	-1.282	0.042	-1.96	-0.413	0.139	0.421	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:189,40,3:232:99:.:.:185,0,6748,785,6773,8543	1	0	13	5
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.021	B	0.039	B	0.941	N	1.000	N	0.65	N	-1.23	T	-0.928	T	0.215	T	0.091	-0.151	3.259	-1.96	-0.413	0.139	0.421	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:189,40,3:232:99:.:.:185,0,6748,785,6773,8543	1	0	13	5
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.031	B	0.072	B	0.002	N	0.665	D	2.66	M	-1.43	T	-0.297	T	0.436	T	0.223	1.515	11.02	1.42	0.324	2.506	6.656	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	15997.73	187	chr5	141303081	.	A	G	15997.73	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.670e+00;DP=4433;ExcessHet=43.6797;FS=223.742;InbreedingCoeff=-0.9170;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.87;ReadPosRankSum=0.595;SOR=14.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:187,48:235:99:.:.:351,0,4620	1	0	20	0
chr5	141356585	141356585	C	G	exonic	PCDHGA4	.	nonsynonymous SNV	PCDHGA4:NM_018917:exon1:c.C1478G:p.P493R	.	.	412	1076	32	2	0	36	0.0164534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00199681	0.0024	0.0004	0.0006	0	0	0.0012	0.0033	0.0116	0.0020634	319	154602	rs11575950	0.0014	0.0014	0.0009	0.0018	0.0129	0.0013	0.0013	0.0122	0.0120	0.0001	0.0004	0.0084	2.519e-05	7.488e-05	0.0104	0.0004	0.0021	0.0129	0.0010	0.0010	0.0009	0.0011	0.0143	0.0008	0.0008	0.0116	0.0106	2.406e-05	0	0.0004	0.0078	0	0	0	0.0006	0.0024	0.0143	.	.	.	0.268	0.34596	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.128	0.12198	.	.	.	.	.	.	.	0.009448558	0.00213	T	.	.	.	.	.	.	.	0.708209581343	0.70566	0.16619594975698668	0.16539	0.601724968327	0.55209	.	.	.	.	.	.	-0.446249	0.01188	T	-0.403395	0.32990	T	.	.	.	0.786121	0.47860	T	0.12372891	0.29045	0.19821483	0.43643	0.12372891	0.29045	0.19821483	0.43643	-7.023	0.54202	T	.	.	0.100	0.17232	B	.;.	.;.	1.196878	0.15889	12.17	0.7920867795643789	0.12638	0.15499	0.18941	N	AEFBI	0.203332	0.32985	N	.	.	.	.	.	.	0.457882207940288	0.20598	0.582742	0.33608	0	0.547309	0.14657	0	0.602189	0.34648	0	0.620976	0.48614	0	.	.	5.68	1.82	0.24209	-2.055000	0.01485	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.296000	0.24405	0.1184:0.6214:0.0:0.2602	6.922	0.23576	641	0.64016	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	0.07143	13005.68	33	chr5	141356585	.	C	G	13005.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.890e+00;DP=1926;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.036;SOR=0.690	GT:AD:DP:GQ:PL	0/1:169,178:347:99:4412,0,4491	18	0	3	0
chr5	141376236	141376236	G	T	exonic	PCDHGA6	.	nonsynonymous SNV	PCDHGA6:NM_018919:exon1:c.G2153T:p.R718L	.	.	9	1506	7	0	0	7	0.00231865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.963	D	0.785	P	0.353	U	1.000	N	3.725	H	1.92	T	-0.943	T	0.204	T	0.393	3.392	17.45	0.485	0.204	-0.180	8.777	0.185	.	7.7e-05	0.0103834	0.0063	0.0004	0.0002	0.0002	0	8.993e-05	0.0066	0.0452	0.0054398	841	154602	rs202155785	0.0029	0.0029	0.0017	0.0042	0.0462	0.0028	0.0028	0.0450	0.0445	8.961e-05	2.236e-05	0	0	1.872e-05	0.0007	7.464e-05	0.0027	0.0462	0.0016	0.0016	0.0008	0.0023	0.0464	0.0014	0.0013	0.0414	0.0395	9.62e-05	0	0.0002	0	0.0002	0	0.0068	1.47e-05	0.0009	0.0464	0.005	0.63226	D	0.007	0.70582	D	0.824	0.55692	P	0.701	0.57495	P	0.353247	0.04258	U	2.171190	1	0.81001	D	3.665	0.94315	H	1.92	0.23082	T	-6.12	0.90060	D	0.314	0.35408	-0.9431	0.42121	T	0.204	0.56211	T	10	0.0064613223	0.00146	T	.	.	.	0.185	0.45933	.	.	0.489449420884	0.48578	0.38671744616276044	0.38586	0.378167440196	0.39236	.	.	.	0.150445	0.48992	T	-0.455186	0.01052	T	-0.392312	0.34281	T	0.143400491275154	0.16564	T	0.782522	0.41827	T	0.24809141	0.47793	0.27615562	0.53558	0.24809141	0.47793	0.27615562	0.53557	-9.779	0.72577	D	.	.	0.135	0.29450	B	.;.	.;.	2.641943	0.34377	19.61	0.99685430483109627	0.79574	0.53091	0.29288	D	AEFDBI	0.217496	0.34261	N	0.0717561437586226	0.45148	2.776	-0.148457934583363	0.33468	1.91472	0.201016023831161	0.18123	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.616125	0.45549	0	.	.	5.15	0.485	0.16040	-0.002000	0.12858	.	.	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.260000	0.23518	0.4156:0.0:0.5844:0.0	8.777	0.33928	651	0.62880	Cadherin, cytoplasmic C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3847.98	33	chr5	141376236	.	G	T	3847.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.779;DP=1080;ExcessHet=0.0000;FS=2.013;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.82;MQRankSum=0.598;QD=13.89;ReadPosRankSum=0.882;SOR=0.821	GT:AD:DP:GQ:PL	0/1:127,150:277:99:3862,0,2940	20	0	1	0
chr5	141399494	141399494	G	C	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G1367C:p.S456T	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2e-05	0.00279553	0.0004	0	0	0	0	9.002e-05	0.0011	0.0024	0.000414	64	154602	rs371319055	0.0002	0.0002	0.0001	0.0003	0.0016	0.0002	0.0002	0.0013	0.0013	0	0	0	0	0	0.0002	0.0001	0.0001	0.0016	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	9.692e-05	0.0022	0.0018	0	0	6.531e-05	0	0	0	0	0.0001	0	0.0035	.	.	.	0.006	0.72224	D	0.006	0.14655	B	0.004	0.12133	B	.	.	.	.	0.999941	0.19238	N	0.83	0.20963	L	.	.	.	.	.	.	0.114	0.10911	.	.	.	.	.	.	.	0.00464502	0.00097	T	.	.	.	.	.	.	.	0.33085137897	0.32697	0.06359673034879579	0.06298	.	.	.	.	.	0.01083	0.09734	T	-0.459527	0.00990	T	-0.440119	0.28796	T	.	.	.	0.540046	0.48193	T	0.04383757	0.06905	0.09181301	0.21604	0.04383757	0.06904	0.09181301	0.21603	-5.738	0.44365	T	.	.	0.087	0.11414	B	.;.	.;.	1.467995	0.18916	13.99	0.46545528553732773	0.03736	0.09385	0.15151	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.88311034909163	0.25667	0.145562	0.03210	1	0.18701	0.04157	0	0.072005	0.02045	0	0.234357	0.04698	0	0.0563766	0.13300	4.49	3.34	0.37357	2.317000	0.43429	.	.	-0.749000	0.03603	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.77:0.0:0.0845:0.1455	5.951	0.18485	809	0.43032	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3228.98	118	chr5	141399494	.	G	C	3228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.850;DP=2006;ExcessHet=0.0000;FS=7.298;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=-2.770e-01;SOR=1.001	GT:AD:DP:GQ:PL	0/1:114,116:230:99:3243,0,3083	20	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	4374.45	280	chr5	141400463	.	A	G	4374.45	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-6.509e+00;DP=4902;ExcessHet=17.4423;FS=250.847;InbreedingCoeff=-0.5560;MLEAC=15;MLEAF=0.357;MQ=59.98;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.940;SOR=14.362	GT:AD:DP:GQ:PL	0/1:252,73:325:66:66,0,5512	6	0	15	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.984	D	0.935	D	0.000	D	1.000	D	2.24	M	-1.2	T	-0.077	T	0.530	D	0.312	3.405	17.50	0.414	0.113	1.464	8.777	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2273	429.3	78	chr5	146286009	.	G	C	429.3	.	AC=5;AF=0.227;AN=22;BaseQRankSum=-1.959e+00;DP=1556;ExcessHet=1.1607;FS=123.785;InbreedingCoeff=-0.3072;MLEAC=7;MLEAF=0.318;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.696;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,17:88:75:.:.:75,0,1334	6	0	5	10
chr5	154412977	154412977	G	A	exonic	GALNT10	.	nonsynonymous SNV	GALNT10:NM_198321:exon10:c.G1475A:p.R492H,	.	.	426	1095	1	0	0	1	0.000456413	.	.	2724919	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.997	D	0.947	D	0.189	N	1.000	D	2.28	M	0.55	T	-0.290	T	0.403	T	0.639	4.995	29.3	5.56	2.620	7.404	19.538	0.257	0.0309999774447	.	.	0.0002	0	0	0	0	3.047e-05	0.0011	0.0011	0.0001358	21	154602	rs779123658	6.714e-05	6.909e-05	3.409e-05	0.0001	0.0009	5.637e-05	5.18e-05	0.0008	0.0007	0	2.239e-05	0	2.52e-05	0	0	1.441e-05	0	0.0009	1.313e-05	1.312e-05	1.284e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.128	0.26965	T	0.142	0.33330	T	0.986	0.70673	D	0.744	0.68407	P	0.189475	0.16885	N	0.602245	0.999999	0.81001	D	2.17	0.60663	M	0.45	0.56446	T	-0.71	0.20576	N	0.528	0.56317	-0.2899	0.75268	T	0.403	0.75402	T	10	0.32587582	0.49892	T	0.031	0.53184	D	0.257	0.56827	0.602	0.73346	0.783585831049	0.78158	0.4686547982566862	0.46784	1.2823345532	0.82575	0.675482392311	0.63621	T	0.097103	0.39959	T	-0.218785	0.18160	T	-0.151801	0.59085	T	0.567749261856079	0.35149	D	0.932107	0.74696	D	0.14513431	0.33283	0.13032918	0.31318	0.14513431	0.33283	0.13032918	0.31317	-5.508	0.42499	T	.	.	0.084	0.09723	B	.;.	.;.	3.992665	0.58778	24.0	0.99945169702385406	0.99886	0.99258	0.93561	D	AEFBI	0.852837	0.76976	D	0.594864014857954	0.72851	5.871598	0.629847102010756	0.77116	6.618099	0.999999999999998	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.56	5.56	0.83678	6.204000	0.72071	6.387000	0.55552	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.488000	0.28746	0.0:0.0:1.0:0.0	19.538	0.95253	689	0.59000	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	834.98	35	chr5	154412977	.	G	A	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.184;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-5.750e-01;SOR=0.742	GT:AD:DP:GQ:PL	0/1:41,34:75:99:849,0,1024	20	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.741	P	0.178	B	0.000	D	1.000	D	2	M	0.11	T	-0.790	T	0.177	T	0.375	3.984	20.4	5.18	1.567	5.717	15.162	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2160.86	127	chr5	154834880	.	G	C	2160.86	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.995e+00;DP=2921;ExcessHet=17.4423;FS=258.744;InbreedingCoeff=-0.5414;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.501;SOR=12.076	GT:AD:DP:GQ:PL	0/1:121,34:170:10:10,0,2399	6	0	15	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,500,0:500:99:.:.:22266,1514,0,22266,1514,22266	0	12	1	0
chr5	157333408	157333408	A	G	exonic	CYFIP2	.	nonsynonymous SNV	CYFIP2:NM_001291721:exon20:c.A2269G:p.I757V	.	.	427	1079	16	0	0	16	0.00735971	.	.	1154979	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.09	T	0.989	D	0.938	D	0.000	D	1.000	D	2.27	M	1.65	T	-0.850	T	0.144	T	0.741	5.027	29.7	5.91	2.254	9.288	16.348	0.194	0.011330762991	0.0046	0.00219649	0.0043	0.0015	0.0031	0	0.0003	0.0058	0.0067	0.0044	0.0042884	663	154602	rs139353471	0.0054	0.0054	0.0053	0.0054	0.0061	0.0053	0.0052	0.0060	0.0059	0.0010	0.0033	0.0039	2.519e-05	0.0005	0.0050	0.0061	0.0056	0.0049	0.0037	0.0037	0.0042	0.0031	0.0062	0.0034	0.0033	0.0057	0.0055	0.0011	0.0044	0.0029	0.0029	0	0.0002	0.0068	0.0062	0.0043	0.0033	0.034	0.44358	D	0.04	0.51112	D	0.126	0.62824	B	0.391	0.67350	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.59	0.40313	L	1.65	0.27650	T	-0.9	0.24244	N	0.456	0.51761	-0.8495	0.52003	T	0.144	0.46605	T	10	0.01004681	0.00225	T	0.011331	0.28845	T	0.194	0.47447	.	.	0.47764994848	0.47394	0.7055049682725005	0.70492	1.21500097909	0.80935	0.663239479065	0.61873	T	0.133247	0.46381	T	-0.256503	0.13312	T	-0.130838	0.60901	T	0.0366169381100496	0.03088	T	0.978302	0.92360	D	0.22080095	0.44643	0.27465183	0.53395	0.1473502	0.33688	0.30521056	0.56548	-7.346	0.56522	T	.	.	0.094	0.17232	B	.;.;.;.;.;.	.;.;.;.;.;.	3.853875	0.55844	23.7	0.9992115614483148	0.98787	0.98867	0.87911	D	AEFBI	0.924380	0.90230	D	0.634335483216014	0.75357	6.291878	0.694591455599074	0.81966	7.652217	0.999999999948807	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	5.91	5.91	0.95240	9.274000	0.94942	11.259000	0.91010	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.348	0.83004	777	0.48198	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2794.11	34	chr5	157333408	.	A	G	2794.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.12;DP=900;ExcessHet=0.1072;FS=0.999;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-3.200e-02;SOR=0.798	GT:AD:DP:GQ:PL	0/1:68,75:143:99:1825,0,1682	19	0	2	0
chr5	157488315	157488315	G	C	exonic	ADAM19	.	nonsynonymous SNV	ADAM19:NM_033274:exon21:c.C2500G:p.P834A,	.	.	423	1079	19	1	0	21	0.00963745	.	.	721355	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.82	T	0.884	P	0.334	B	0.001	N	0.986	D	1.04	L	4.9	T	-0.644	T	0.004	T	0.318	2.179	13.24	5.69	2.688	1.646	12.612	0.085	0.020230905109	0.0048	0.00279553	0.0048	0.0017	0.0035	0	0.0005	0.0066	0.0067	0.0045	0.0050064	774	154602	rs11466803	0.0065	0.0065	0.0065	0.0065	0.0074	0.0064	0.0063	0.0073	0.0072	0.0012	0.0040	0.0039	2.519e-05	0.0006	0.0049	0.0074	0.0067	0.0051	0.0042	0.0042	0.0046	0.0037	0.0070	0.0039	0.0038	0.0065	0.0063	0.0013	0.0044	0.0040	0.0029	0.0002	0.0003	0.0068	0.0070	0.0052	0.0033	0.475	0.09896	T	0.237	0.31833	T	0.884	0.48618	P	0.301	0.41090	B	0.001106	0.40219	N	0.178465	0.986437	0.40431	D	1.905	0.50856	L	4.88	0.01459	T	-0.9	0.32991	N	0.305	0.38129	-0.6444	0.62957	T	0.004	0.01261	T	10	0.006568253	0.00149	T	0.020231	0.42781	T	0.085	0.24743	.	.	0.554640639675	0.55122	0.09056899518242394	0.08989	0.0720572644519	0.08078	0.380324423313	0.22302	T	0.054484	0.29737	T	-0.50803	0.00515	T	-0.492139	0.23166	T	0.0255115325970825	0.01340	T	0.734827	0.35112	T	0.057618104	0.11489	0.059582334	0.11206	0.057618104	0.11488	0.059582334	0.11206	-4.708	0.33501	T	.	.	0.066	0.03849	B	.;.	.;.	3.365715	0.46485	22.3	0.99301255362280227	0.58650	0.81023	0.40517	D	AEFBI	0.163862	0.29019	N	-0.117450378270477	0.36632	2.120105	0.0181788959327859	0.40559	2.422509	0.999988116002192	0.51787	0.732398	0.92422	0	0.698795	0.70079	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	1.740000	0.37852	11.752000	0.95431	0.618000	0.50648	0.971000	0.34370	1.000000	0.68203	0.749000	0.35751	0.0:0.0:0.7923:0.2077	12.612	0.55915	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2155.11	33	chr5	157488315	.	G	C	2155.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.108;DP=833;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-5.020e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:34,41:75:99:1150,0,977	19	0	2	0
chr5	160092948	160092948	T	C	exonic	PWWP2A	.	nonsynonymous SNV	PWWP2A:NM_001130864:exon2:c.A1702G:p.M568V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.001	B	0.002	B	.	.	1.000	N	0.345	N	0.6	T	-1.001	T	0.065	T	0.179	-1.068	0.175	1.9	0.451	2.259	4.254	0.023	0.00689677016723	.	.	0.0003	0	0	0	0	0	0	0.0008	3.88e-05	6	154602	rs758202350	2.286e-05	2.189e-05	1.41e-05	3.187e-05	0.0003	1.655e-05	1.416e-05	0.0002	0.0002	0	2.8e-05	0	8.387e-05	0	0	9.267e-07	1.724e-05	0.0003	1.313e-05	1.312e-05	0	2.684e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.478	0.08286	T	0.561	0.09083	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	0.895	0.22405	L	0.6	0.53731	T	0.12	0.05604	N	0.126	0.11912	-1.0008	0.29688	T	0.065	0.26772	T	9	0.019789785	0.00447	T	0.006897	0.18261	T	0.023	0.04649	0.31	0.28289	0.043077524339	0.03247	0.1683135905815819	0.16751	0.774085671428	0.64928	0.398262023926	0.24826	T	0.002023	0.01432	T	-0.407889	0.02053	T	-0.478742	0.24578	T	0.0200411816589032	0.00705	T	0.711829	0.32321	T	0.03950959	0.05469	0.061667666	0.11944	0.03950959	0.05469	0.061667666	0.11943	-2.556	0.06176	T	.	.	0.075	0.05711	B	.	.	1.045411	0.14265	10.84	0.58584208258999804	0.06026	0.81896	0.41211	D	AEFGBCI	0.152285	0.27693	N	-0.617513312385033	0.18418	0.9560614	-0.444592899715684	0.23703	1.293994	0.999982456179648	0.51787	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.78	1.9	0.24770	1.868000	0.39146	0.137000	0.15122	0.665000	0.62972	1.000000	0.71638	0.983000	0.30585	0.995000	0.73285	0.1213:0.069:0.1341:0.6757	4.254	0.10161	838	0.37812	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3530.98	35	chr5	160092948	.	T	C	3530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.07;DP=940;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.53;ReadPosRankSum=0.213;SOR=0.693	GT:AD:DP:GQ:PL	0/1:113,130:243:99:3545,0,2628	20	0	1	0
chr5	160620587	160620587	C	T	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon14:c.G2176A:p.A726T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.000	D	1.000	D	3	M	-2.19	D	0.816	D	0.826	D	0.788	5.527	35	5.36	2.523	7.670	18.115	0.806	0.0534249374882	7.9e-05	0.000199681	0.0002	0.0004	0	0.0003	0	4.524e-05	0	0.0007	0.0001552	24	154602	rs367974827	7.459e-05	7.524e-05	5.855e-05	9.079e-05	0.0005	6.317e-05	5.874e-05	0.0004	0.0003	0.0002	8.947e-05	0	0.0002	0.0001	0.0002	3.238e-05	9.938e-05	0.0005	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0003	0.0005	0	0	0	0.0006	9.414e-05	0	1.47e-05	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.585	0.93597	H	-2.19	0.86815	D	-3.82	0.71997	D	0.844	0.83987	0.816	0.94611	D	0.826	0.94143	D	9	0.71148306	0.73073	D	0.053425	0.65463	D	0.806	0.93699	.	.	0.927941553073	0.92720	0.7467041025812069	0.74616	0.439996960147	0.44017	0.799229860306	0.81846	T	0.490762	0.81542	T	0.0375108	0.56718	T	0.213629	0.83851	D	0.819770574569702	0.47755	D	0.995817	0.98540	D	0.71370673	0.78812	0.74479884	0.84915	0.71370673	0.78813	0.74479884	0.84916	-8.659	0.65478	D	.	.	0.951	0.87006	P	.;.;.	.;.;.	5.011384	0.83222	28.0	0.9994735610406128	0.99913	0.98440	0.82799	D	AEFI	0.954988	0.97250	D	0.873361638783327	0.90394	10.38457	0.822064748646621	0.91283	10.80946	0.999999991302004	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	7.813000	0.84661	7.630000	0.62690	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.644000	0.32530	0.0:1.0:0.0:0.0	18.115	0.89479	865	0.32612	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2515.98	41	chr5	160620587	.	C	T	2515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.886;DP=893;ExcessHet=0.0000;FS=2.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.25;ReadPosRankSum=1.01;SOR=0.965	GT:AD:DP:GQ:PL	0/1:71,94:165:99:2530,0,1693	20	0	1	0
chr5	168724456	168724456	C	T	exonic	SLIT3	.	nonsynonymous SNV	SLIT3:NM_001271946:exon21:c.G2299A:p.V767M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.988	D	0.000	D	1.000	D	1.89	L	-1.4	T	0.394	D	0.635	D	0.494	4.006	20.5	4.34	2.264	6.376	17.117	0.693	0.304523466058	.	.	8.385e-06	0	0	0	0	0	0	6.186e-05	6.5e-06	1	154602	rs764879153	5.476e-06	5.472e-06	5.449e-06	5.504e-06	6.961e-05	2.36e-06	1.7e-06	2.997e-05	2.039e-05	0	0	0	0	1.881e-05	0	8.998e-07	0	6.961e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.988	0.77976	D	0.000004	0.62929	D	0.062472	0.999938	0.51612	D	1.89	0.50145	L	-1.4	0.80474	T	-2.32	0.51478	N	0.596	0.65758	0.394	0.89005	D	0.635	0.87215	D	10	0.7637255	0.76542	D	0.304523	0.90990	D	0.693	0.88867	0.691	0.82843	0.6974130324	0.69480	0.5148404654576598	0.51407	0.955217639602	0.72780	0.787575006485	0.80074	T	0.219072	0.58197	T	0.0207991	0.54489	T	-0.10727	0.62828	T	0.882816970348358	0.53295	D	0.738626	0.35686	T	0.33314845	0.55727	0.3792657	0.62986	0.33314845	0.55727	0.3792657	0.62986	-10.368	0.76085	D	.	.	0.435	0.65038	A	.;.;.	.;.;.	5.184019	0.86922	29.1	0.99910386265247286	0.98022	0.98466	0.83072	D	AEFDBI	0.846476	0.76335	D	0.6655343247746	0.77378	6.663119	0.621417578819931	0.76497	6.502019	0.917450982904163	0.26542	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.34	4.34	0.51267	5.774000	0.68561	7.621000	0.62310	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:1.0:0.0:0.0	17.117	0.86568	919	0.19497	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	980.98	34	chr5	168724456	.	C	T	980.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.540e-01;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.46;ReadPosRankSum=-2.950e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/1:69,47:116:99:995,0,1665	20	0	1	0
chr5	172339630	172339630	T	G	exonic	SH3PXD2B	.	nonsynonymous SNV	SH3PXD2B:NM_001017995:exon13:c.A1475C:p.K492T,	Frank-ter Haar syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1043495	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.651	P	0.115	B	0.055	N	1.000	N	1.67	L	0.05	T	-0.876	T	0.167	T	0.705	0.309	5.676	4.53	0.972	5.469	10.427	0.259	0.0386450608919	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs753812941	1.163e-05	1.163e-05	5.445e-06	1.788e-05	0.0002	7.08e-06	5.79e-06	0.0001	9.45e-05	0	0	0	0	0	0.0002	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.376	0.16182	T	0.651	0.40707	P	0.115	0.31843	B	0.055035	0.22675	N	0.474716	0.999957	0.52396	D	2.39	0.68882	M	0.05	0.61923	T	-2.04	0.46842	N	0.344	0.38541	-0.8756	0.50105	T	0.167	0.50551	T	9	0.19488448	0.35318	T	0.038645	0.58347	D	0.259	0.57090	0.386	0.40624	0.614323175037	0.61121	0.22988917374426687	0.22903	0.268327182844	0.29355	0.509713828564	0.40182	T	0.055763	0.30098	T	-0.061583	0.42659	T	-0.0665571	0.65871	T	0.209507912397385	0.20928	T	0.781022	0.41604	T	0.14690028	0.33607	0.13683142	0.32722	0.14690028	0.33607	0.13683142	0.32722	-3.579	0.17553	T	0.17047236126087026	0.21436	0.147	0.32445	B	.	.	3.538943	0.49694	22.8	0.97462838499979942	0.34095	0.98650	0.85139	D	AEFDBI	0.435373	0.49604	N	-0.0628734453264146	0.39030	2.29515	-0.0377269431331513	0.38025	2.234534	0.315664209383803	0.19332	0.67177	0.52595	0	0.588015	0.36545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.71	4.53	0.55009	3.917000	0.56136	7.956000	0.75945	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.012000	0.09680	0.1461:0.0:0.0:0.8539	10.427	0.43570	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2394.98	33	chr5	172339630	.	T	G	2394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.980e-01;DP=903;ExcessHet=0.0000;FS=3.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-6.840e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/1:102,98:200:99:2409,0,2565	20	0	1	0
chr5	176598286	176598286	C	T	exonic	GPRIN1	.	nonsynonymous SNV	GPRIN1:NM_052899:exon2:c.G1549A:p.G517R,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.033	B	0.027	B	0.517	N	1.000	N	2.42	M	2.62	T	-1.004	T	0.019	T	0.189	3.028	16.10	1.16	0.364	0.155	5.059	0.030	.	.	0.00379393	0.0016	0	0	0.0183	0	0	0.0011	0.0018	0.001423	220	154602	rs148346330	0.0006	0.0006	0.0005	0.0006	0.0151	0.0005	0.0005	0.0141	0.0137	2.987e-05	8.945e-05	0	0.0151	1.882e-05	0.0002	1.529e-05	0.0010	0.0016	0.0007	0.0007	0.0006	0.0008	0.0158	0.0006	0.0006	0.0130	0.0120	0	0	0.0003	0	0.0158	0	0	4.41e-05	0	0.0041	0.07	0.35349	T	0.175	0.29945	T	0.033	0.20350	B	0.027	0.21085	B	0.517138	0.11782	N	0.695300	1	0.08975	N	2.36	0.67893	M	2.62	0.12988	T	-2.79	0.59059	D	0.074	0.04790	-1.0038	0.28814	T	0.019	0.08033	T	10	0.0039630234	0.00076	T	.	.	.	0.030	0.07022	0.428	0.47515	0.0675242888579	0.06100	0.07076168941177935	0.07013	.	.	0.296689748764	0.09908	T	0.016149	0.13408	T	-0.588784	0.00170	T	-0.603587	0.12512	T	0.0476050048352061	0.05072	T	0.521348	0.16985	T	0.13909134	0.32142	0.13987122	0.33359	0.13909134	0.32142	0.13987122	0.33358	-5.471	0.41596	T	.	.	0.115	0.23041	B	.	.	1.467571	0.18910	13.99	0.9954215815494617	0.70586	0.06435	0.12441	N	AEFDBI	0.062895	0.12119	N	-0.820039763717754	0.12799	0.6262141	-0.919186968672008	0.11642	0.5943398	0.971163944168638	0.29265	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.12	1.16	0.19936	0.403000	0.20706	.	.	0.524000	0.24156	0.000000	0.06391	.	.	0.002000	0.04165	0.0:0.6261:0.172:0.2019	5.059	0.13885	374	0.84073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2320.98	79	chr5	176598286	.	C	T	2320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.49;DP=1933;ExcessHet=0.0000;FS=1.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.246;SOR=0.534	GT:AD:DP:GQ:PL	0/1:99,83:182:99:2335,0,2654	20	0	1	0
chr5	177435064	177435064	G	A	exonic	GRK6	.	nonsynonymous SNV	GRK6:NM_001364164:exon10:c.G370A:p.V124M	.	.	425	1082	14	1	0	16	0.00733945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.938	D	0.000	D	1.000	D	1.495	L	1.81	T	-1.009	T	0.091	T	0.594	3.183	16.65	4.69	1.351	6.718	15.829	0.137	.	0.0013	0.00319489	0.0025	0.0004	0.0004	0	0	0.0013	0.0022	0.0124	0.0022833	353	154602	rs143935970	0.0019	0.0019	0.0015	0.0022	0.0113	0.0018	0.0018	0.0107	0.0104	0.0002	0.0009	0.0010	2.519e-05	1.873e-05	0.0039	0.0014	0.0017	0.0113	0.0012	0.0012	0.0010	0.0014	0.0118	0.0011	0.0010	0.0093	0.0085	0.0004	0	0.0010	0.0009	0	0	0.0034	0.0013	0.0028	0.0118	0.028	0.48642	D	0.062	0.49942	T	0.998	0.77913	D	0.928	0.67350	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.995	0.25082	L	1.81	0.25182	T	-1.83	0.42957	N	0.603	0.62866	-1.0094	0.27105	T	0.091	0.34874	T	10	0.010959148	0.00242	T	.	.	.	0.137	0.36984	.	.	0.55375338871	0.55033	0.665471097586976	0.66484	1.6732094712	0.89882	0.849718809128	0.89573	D	0.304871	0.67715	T	-0.361079	0.04069	T	-0.282046	0.46595	T	0.0193995816189315	0.00645	T	0.889711	0.62583	D	0.297359	0.52666	0.16623408	0.38413	0.297359	0.52666	0.16623408	0.38413	-6.579	0.51191	T	.	.	0.347	0.58697	A	.;.;.;.;.	.;.;.;.;.	5.119054	0.85616	28.7	0.9976194147316324	0.85172	0.97522	0.75297	D	AEFBHCI	0.793397	0.72141	D	0.398974369911757	0.61368	4.336809	0.402196825549314	0.61703	4.37404	0.999999999977355	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.56	4.69	0.58546	8.072000	0.89294	11.870000	0.98549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.721000	0.34804	0.0:0.0:0.863:0.137	15.829	0.78518	923	0.18507	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	501.98	34	chr5	177435064	.	G	A	501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.160e-01;DP=748;ExcessHet=0.0000;FS=1.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.282;SOR=0.996	GT:AD:DP:GQ:PL	0/1:27,22:49:99:516,0,682	20	0	1	0
chr5	177503130	177503130	G	A	exonic	DOK3	.	nonsynonymous SNV	DOK3:NM_001144876:exon5:c.C602T:p.T201M	.	.	425	1091	5	1	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.474	P	0.141	B	.	.	1.000	N	0	N	0.68	T	-1.053	T	0.050	T	0.023	0.681	7.643	-1.88	-0.561	0.456	2.253	0.048	0.00765155407362	0.0009	0.00159744	0.0028	0	0	0	0	0.0009	0	0.0060	0.0005627	87	154602	rs202146130	0.0012	0.0011	0.0010	0.0014	0.0069	0.0011	0.0011	0.0064	0.0062	0.0001	0.0004	0.0002	5.597e-05	0.0002	0.0028	0.0009	0.0011	0.0069	0.0008	0.0008	0.0005	0.0010	0.0078	0.0006	0.0006	0.0058	0.0051	0.0002	0	0.0005	0.0003	0	0	0	0.0008	0.0019	0.0078	0.0	0.91255	D	0.048	0.48594	D	0.109	0.26142	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.53088	T	-0.56	0.19720	N	0.143	0.14338	-1.0527	0.13655	T	0.050	0.21378	T	9	0.008745134	0.00198	T	0.007652	0.20299	T	0.048	0.13305	.	.	0.0920862733494	0.08535	.	.	.	.	.	.	.	.	.	.	-0.605754	0.00134	T	-0.639174	0.09729	T	0.030139504509938	0.02012	T	0.493251	0.15238	T	.	.	.	.	.	.	.	.	-5.382	0.40746	T	.	.	0.100	0.21877	B	.;.	.;.	0.566602	0.09351	6.132	0.92403142669486305	0.21816	0.03277	0.08320	N	AEFDBHCI	0.025301	0.01711	N	-1.13377760204758	0.06050	0.2775243	-1.25312274768622	0.05085	0.2414514	0.999999325230275	0.74766	0.646311	0.45356	0	0.685571	0.66316	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	2.11	-1.88	0.07294	0.964000	0.28903	1.685000	0.28035	0.526000	0.24426	0.005000	0.17040	0.031000	0.21272	0.001000	0.02609	0.4406:0.0:0.3187:0.2407	2.253	0.03800	900	0.24599	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1067.98	33	chr5	177503130	.	G	A	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=808;ExcessHet=0.0000;FS=0.934;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.972;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,38:79:99:0|1:177503130_G_A:1082,0,1138:177503130	20	0	1	0
chr5	179345258	179345258	-	GCAGCAGCAGCAGCA	exonic	ADAMTS2	.	nonframeshift insertion	ADAMTS2:NM_014244:exon1:c.70_71insTGCTGCTGCTGCTGC:p.L23_P24insLLLLL	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1686341	Ehlers-Danlos_syndrome,_dermatosparaxis_type|not_provided	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410,Orphanet:1901|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs568040559	2.123e-05	1.574e-05	1.933e-05	2.33e-05	0.0003	1.364e-05	1.157e-05	0.0001	8.041e-05	0.0001	0	0	0.0003	0	0	1.617e-05	0	0	2.04e-05	1.989e-05	1.326e-05	2.791e-05	0.0001	5.42e-06	2.5e-06	2.312e-05	9.26e-06	2.496e-05	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5145.56	17	chr5	179345258	.	G	GGCA,GGCAGCAGCAGCAGCA	5145.56	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-2.730e-01;DP=757;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=-2.730e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:15,14,0:29:99:497,0,573,542,615,1157	14	0	6	0
chr5	179522611	179522611	C	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522611	.	C	T,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=-1.750e-01;DP=1073;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.35;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.950e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,52,0:110:99:0|1:179522611_C_T:1989,0,2259,2163,2415,4578:179522611	9	3	5	3
chr5	179522612	179522612	A	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522612	.	A	G,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=1.64;DP=1065;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.37;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.910e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,52,0:110:99:0|1:179522611_C_T:1989,0,2259,2163,2415,4578:179522611	9	3	5	3
chr5	179642360	179642360	G	T	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon5:c.C813A:p.H271Q	.	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.993	D	0.769	P	.	.	1.000	N	.	.	1.69	T	-1.044	T	0.092	T	0.085	0.107	4.575	0.517	0.539	0.490	.	0.131	.	.	0.00459265	0.0010	0	0	0.0113	0	0.0004	0.0158	0.0008	0.0003622	56	154602	rs78275765	0.0014	0.0014	0.0015	0.0014	0.0400	0.0014	0.0014	0.0383	0.0376	6.332e-05	0.0057	0	0.0400	0.0001	0.0005	0.0002	0.0014	0.0013	0.0012	0.0012	0.0011	0.0013	0.0239	0.0011	0.0010	0.0204	0.0192	0.0001	0	0.0016	0	0.0239	0	0	0.0003	0.0019	0.0023	.	.	.	.	.	.	0.993	0.65571	D	0.769	0.56777	P	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0440	0.16118	T	0.092	0.35146	T	7	0.0036977232	0.00068	T	.	.	.	.	.	0.025	0.00002	.	.	0.07216414533255712	0.07153	.	.	.	.	.	.	.	.	-0.646441	0.00076	T	-0.680395	0.06960	T	0.0559693887490293	0.06519	T	0.182682	0.01864	T	.	.	.	.	.	.	.	.	-2.381	0.05018	T	.	.	.	.	.	.	.	0.091828	0.04953	1.521	0.74673630165092586	0.10784	0.00497	0.02345	N	AEFBI	0.041459	0.06306	N	-0.462156089597712	0.23328	1.252051	-0.76014960993118	0.15473	0.8139635	1.40809719591849E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	0.517	0.517	0.16223	0.010000	0.13140	-3.269000	0.02919	-0.829000	0.02890	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	.	.	.	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	0	0	0.02381	1303.98	57	chr5	179642360	.	G	T	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.587;DP=1299;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.19;MQRankSum=-1.077e+00;QD=12.66;ReadPosRankSum=0.485;SOR=0.651	GT:AD:DP:GQ:PL	0/1:51,52:103:99:1318,0,1187	20	0	1	0
chr5	180948368	180948368	G	A	exonic	BTNL8	.	nonsynonymous SNV	BTNL8:NM_024850:exon5:c.G931A:p.G311R,	.	.	467	1051	3	1	0	5	0.00237304	.	.	2825652	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.76	T	0.0	B	0.0	B	.	.	1.000	N	.	.	4.26	T	-0.908	T	0.000	T	.	-1.824	0.009	-0.026	0.073	0.242	3.364	0.001	.	.	0.00958466	0.0001	0.0003	0	0	0	0.0001	0	0	0.001533	237	154602	rs113071395	8.453e-05	0.0032	7.679e-05	9.232e-05	0.0003	7.161e-05	6.697e-05	0.0001	9.913e-05	3.043e-05	0.0002	0	0.0003	2.117e-05	0	7.812e-05	0.0002	3.545e-05	0.0008	0.0073	0.0009	0.0008	0.0040	0.0007	0.0006	0.0025	0.0021	0.0003	0	0.0013	0.0009	0.0040	0.0001	0.0036	0.0008	0.0016	0.0015	0.125	0.27310	T	0.183	0.29153	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.26	0.02538	T	0.04	0.06488	N	0.103	0.08646	-0.9077	0.47133	T	0.000	0.00152	T	8	0.0045530796	0.00094	T	.	.	.	0.001	0.00016	0.249	0.18602	0.0920862733494	0.08535	.	.	.	.	.	.	.	.	.	.	-0.401835	0.02252	T	-0.53555	0.18737	T	0.00745027977973223	0.00086	T	0.305069	0.05837	T	.	.	.	.	.	.	.	.	-3.421	0.15340	T	.	.	0.103	0.18456	B	.	.	1.127310	0.15138	11.62	0.7249654836456455	0.09994	0.00020	0.00220	N	AEFDGI	0.015143	0.00275	N	-1.37173003669508	0.02906	0.1290276	-1.46796803984706	0.02611	0.1203939	3.47199958373269E-4	0.06626	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.48	-0.0263	0.13257	0.650000	0.24544	0.048000	0.13961	-0.319000	0.05888	0.001000	0.13787	0.001000	0.17328	0.099000	0.18236	0.7599:0.0:0.2401:0.0	3.364	0.06777	.	.	.	.	.	.	.	rs113071395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	92.98	33	chr5	180948368	.	G	A	92.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=702;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.86;MQRankSum=-1.000e+00;QD=10.33;ReadPosRankSum=0.819;SOR=0.527	GT:AD:DP:GQ:PL	0/1:5,4:9:99:107,0,139	20	0	1	0
chr6	1390638	1390638	C	G	exonic	FOXF2	.	nonsynonymous SNV	FOXF2:NM_001452:exon1:c.C691G:p.P231A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.057	B	0.016	B	0.004	N	1.000	D	0.345	N	-3.13	D	-0.610	T	0.345	T	0.377	1.145	9.666	3.23	0.852	0.738	10.791	0.260	0.794244701218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.012e-07	6.84e-07	1.395e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.689e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.16958	T	0.385	0.15746	T	0.057	0.22878	B	0.016	0.17743	B	0.003726	0.34560	N	0.245308	0.999979	0.53665	D	0.695	0.17993	N	-3.13	0.92829	D	-1.08	0.28084	N	0.098	0.07949	-0.6101	0.64399	T	0.345	0.71036	T	10	0.17284608	0.32079	T	0.794245	0.98387	D	0.260	0.57221	0.263	0.20788	0.811403763096	0.80963	0.2732483774347499	0.27237	.	.	0.800435781479	0.82028	T	0.078298	0.35858	T	0.0617617	0.59834	T	-0.14906	0.59327	T	0.151635482907295	0.17233	T	0.522748	0.17058	T	0.070475005	0.15526	0.11865105	0.28640	0.070475005	0.15526	0.11865105	0.28640	-3.443	0.15642	T	.	.	0.051	0.00191	B	.;.	.;.	2.477681	0.31942	18.89	0.93731456039564554	0.23661	0.28731	0.23633	N	AEFDGBHCI	0.229309	0.35285	N	-0.597463634763856	0.19022	0.9922822	-0.481266319945269	0.22671	1.232491	0.999999999999903	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.1	3.23	0.36150	0.891000	0.27944	2.540000	0.33211	0.583000	0.30283	0.042000	0.21073	0.989000	0.31174	0.993000	0.69303	0.0:0.9044:0.0:0.0955	10.791	0.45635	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	843.98	44	chr6	1390638	.	C	G	843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.232;DP=824;ExcessHet=0.0000;FS=1.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.017;SOR=0.432	GT:AD:DP:GQ:PL	0/1:42,31:73:99:858,0,1254	20	0	1	0
chr6	15523079	15523079	C	T	exonic	DTNBP1	.	nonsynonymous SNV	DTNBP1:NM_001271669:exon8:c.G847A:p.V283I	Hermansky-Pudlak syndrome 7, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1905616	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.044	B	0.016	B	0.339	N	0.952	N	1.645	L	1.57	T	-0.952	T	0.042	T	0.139	2.633	14.76	0.247	0.011	0.382	23.222	0.062	0.00510675005397	.	.	4.118e-05	0	8.637e-05	0.0002	0.0002	0	0	6.056e-05	3.88e-05	6	154602	rs753546693	2.189e-05	2.189e-05	1.77e-05	2.613e-05	0.0002	1.584e-05	1.356e-05	0.0001	8.646e-05	0	4.472e-05	3.826e-05	7.557e-05	3.744e-05	0.0002	6.295e-06	1.656e-05	0.0002	1.315e-05	1.313e-05	0	2.691e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	0	0.0005	0	0.134	0.29158	T	0.119	0.36233	T	0.044	0.21686	B	0.016	0.17743	B	0.338882	0.13995	N	0.621864	0.999995	0.26457	N	1.5	0.37844	L	1.57	0.29342	T	-0.19	0.09965	N	0.087	0.09914	-0.9524	0.40555	T	0.042	0.17910	T	10	0.05465913	0.05855	T	0.005107	0.12970	T	0.062	0.17934	0.326	0.30873	0.0297737177859	0.01360	0.02939719252123762	0.02888	0.0959658060652	0.10830	0.226958721876	0.01751	T	0.153655	0.49460	T	-0.425502	0.01579	T	-0.623279	0.10930	T	0.0278443538553726	0.01665	T	0.840716	0.54093	T	0.016570488	0.00207	0.049873225	0.07710	0.016570488	0.00207	0.049873225	0.07710	-4.535	0.31344	T	0.3381338659849289	0.43599	0.078	0.08512	B	.;.;.;.;.	.;.;.;.;.	0.322621	0.06969	3.521	0.93091796417878481	0.22716	0.13405	0.17837	N	AEFDBHCI	0.181546	0.30886	N	-0.961940098720548	0.09426	0.4460623	-1.00350636478248	0.09708	0.484549	0.966923964579113	0.28939	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.62	0.247	0.14781	0.530000	0.22742	-2.044000	0.04297	-0.184000	0.09925	0.024000	0.20007	0.000000	0.08366	0.537000	0.29868	0.0:0.8469:0.1531:0.0	23.222	0.99981	773	0.48803	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1018.98	42	chr6	15523079	.	C	T	1018.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.33;DP=802;ExcessHet=0.0000;FS=0.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=-5.940e-01;SOR=0.815	GT:AD:DP:GQ:PL	0/1:61,39:100:99:1033,0,1550	20	0	1	0
chr6	16327687	16327687	-	TGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCA:p.Q208_H209insQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/1:28,25,0,0,0,0:55:99:1107,0,1382,1227,1448,2725,1227,1448,2725,2725,1227,1448,2725,2725,2725,1227,1448,2725,2725,2725,2725	9	0	3	0
chr6	16327687	16327687	-	TGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCA:p.Q208_H209insQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/1:28,25,0,0,0,0:55:99:1107,0,1382,1227,1448,2725,1227,1448,2725,2725,1227,1448,2725,2725,2725,1227,1448,2725,2725,2725,2725	9	0	3	0
chr6	16327687	16327687	-	TGCTGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCAGCA:p.Q208_H209insQQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/1:28,25,0,0,0,0:55:99:1107,0,1382,1227,1448,2725,1227,1448,2725,2725,1227,1448,2725,2725,2725,1227,1448,2725,2725,2725,2725	9	0	3	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.946	D	0.000	D	1.000	D	2.015	M	2.04	T	-1.026	T	0.105	T	0.742	3.788	19.23	5.46	2.571	5.817	19.326	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/2:42,3,29:74:99:328,263,1818,0,771,602	2	0	6	2
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	D	1.000	D	2.36	M	2.04	T	-0.937	T	0.125	T	0.77	4.052	20.8	5.46	2.571	5.817	19.326	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/2:42,3,29:74:99:328,263,1818,0,771,602	2	0	6	2
chr6	24423690	24423690	G	A	exonic	MRS2	.	nonsynonymous SNV	MRS2:NM_001286266:exon9:c.G1178A:p.R393H	.	.	435	1062	25	0	0	25	0.0116333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.855	P	0.001	D	1.000	N	0.695	N	1.33	T	-1.042	T	0.077	T	0.615	3.954	20.2	4.68	1.584	1.928	6.430	0.197	0.030606050027	0.0028	0.00279553	0.0033	0.0027	0.0059	0.0006	0	0.0035	0.0046	0.0039	0.003163	489	154602	rs114959453	0.0025	0.0025	0.0023	0.0026	0.0236	0.0024	0.0024	0.0204	0.0191	0.0022	0.0051	0.0035	0.0005	5.644e-05	0.0236	0.0022	0.0035	0.0042	0.0030	0.0030	0.0029	0.0032	0.0056	0.0028	0.0027	0.0046	0.0043	0.0026	0	0.0056	0.0029	0.0008	0	0.0204	0.0030	0.0099	0.0044	0.003	0.68238	D	0.011	0.64786	D	0.996	0.68779	D	0.855	0.60933	P	0.000819	0.41658	D	0.110120	0.999996	0.58761	D	2.295	0.65404	M	1.19	0.37578	T	-1.17	0.29933	N	0.254	0.28732	-1.0416	0.16830	T	0.077	0.30798	T	10	0.00927484	0.00209	T	0.030606	0.52882	D	0.197	0.47942	.	.	0.591348262392	0.58811	0.3566446053776495	0.35578	1.20472787136	0.80666	0.304095566273	0.11015	T	0.090497	0.38598	T	-0.350518	0.04695	T	-0.27573	0.47239	T	0.0340691524677593	0.02650	T	0.912409	0.68863	D	0.04689022	0.07925	0.03757665	0.03441	0.04689022	0.07924	0.03757665	0.03440	-4.492	0.30784	T	.	.	0.118	0.24020	B	.;.;.	.;.;.	3.836069	0.55479	23.6	0.99840369290410014	0.92057	0.67209	0.33350	D	AEFBI	0.075384	0.15136	N	0.0696595088378875	0.45052	2.768253	-0.0100206926418895	0.39262	2.325203	0.00413566220551161	0.10430	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.55	4.68	0.58319	2.787000	0.47487	2.267000	0.31803	-0.110000	0.15115	0.992000	0.37556	0.897000	0.27914	0.009000	0.08673	0.2893:0.0:0.7107:0.0	6.430	0.20993	721	0.55360	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1063.98	33	chr6	24423690	.	G	A	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.590e-01;DP=774;ExcessHet=0.0000;FS=0.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=-6.380e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/1:30,46:76:99:1078,0,649	20	0	1	0
chr6	26409697	26409697	G	C	exonic	BTN3A1	.	nonsynonymous SNV	BTN3A1:NM_001145008:exon5:c.G724C:p.A242P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.986	D	0.744	P	.	.	1.000	N	1.15	L	3.85	T	-1.095	T	0.061	T	0.234	0.622	7.347	0.273	0.073	0.301	3.393	0.046	0.00134181941872	.	.	8.743e-06	0	0	0	0	1.542e-05	0	0	6.5e-06	1	154602	rs376287137	3.491e-06	4.788e-06	0	7.026e-06	0.0004	1.02e-06	7.4e-07	6.303e-05	2.6e-05	0	2.619e-05	0	0	0	0.0004	9.087e-07	1.698e-05	0	1.315e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.164	0.29420	T	0.249	0.27503	T	0.974	0.61523	D	0.564	0.55835	P	.	.	.	.	1	0.08975	N	2.015	0.55033	M	3.85	0.49642	T	-2.09	0.49352	N	0.148	0.32259	-1.0946	0.04810	T	0.061	0.25492	T	9	0.124815166	0.23712	T	0.001342	0.01910	T	0.046	0.12618	0.375	0.38830	0.637655256123	0.63467	0.25975358992277564	0.25889	0.182724254925	0.20545	0.426080346107	0.28672	T	0.006985	0.06413	T	-0.271467	0.11593	T	-0.520063	0.20287	T	0.07027001386202	0.08689	T	0.666933	0.27600	T	0.2055484	0.42700	0.16220225	0.37689	0.2055484	0.42700	0.16220225	0.37688	-5.606	0.47671	T	.	.	0.272	0.55978	B	.;.;.;.	.;.;.;.	1.096931	0.14809	11.35	0.97113482701485765	0.32422	0.01731	0.05474	N	AEFGBI	0.078475	0.15833	N	-0.608553304127895	0.18686	0.9721518	-0.855534515222389	0.13155	0.6808737	0.999852620953342	0.44174	0.706548	0.73137	0	0.724815	0.89359	0	0.584781	0.30282	0	0.655142	0.61905	0	.	.	1.18	0.273	0.14903	0.075000	0.14547	-0.117000	0.11764	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2839:0.0:0.7161:0.0	3.393	0.06873	680	0.59965	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1764.98	36	chr6	26409697	.	G	C	1764.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=837;ExcessHet=0.0000;FS=2.089;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=2.09;SOR=0.859	GT:AD:DP:GQ:PL	0/1:77,68:145:99:1779,0,1811	20	0	1	0
chr6	26468202	26468202	G	C	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon7:c.G1054C:p.V352L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.04	B	0.048	B	0.005	N	1.000	N	1.3	L	0.18	T	-1.028	T	0.046	T	0.053	-0.984	0.284	0.827	0.195	0.026	3.473	0.046	0.0113536328415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13522	T	0.694	0.10429	T	0.04	0.21238	B	0.048	0.24975	B	0.004762	0.33407	N	0.137167	1	0.08975	N	1.02	0.25474	L	0.18	0.60361	T	-1.07	0.27876	N	0.037	0.01135	-1.0282	0.21038	T	0.046	0.19879	T	10	0.103967994	0.19141	T	0.011354	0.28886	T	0.046	0.12618	0.696	0.83313	0.330069100803	0.32608	0.18803037934269917	0.18721	0.073190021523	0.08211	0.332187712193	0.15264	T	0.002426	0.01816	T	-0.263576	0.12485	T	-0.616385	0.11471	T	0.136818408966064	0.15998	T	0.253675	0.03893	T	0.08667843	0.20157	0.044379774	0.05736	0.08667843	0.20157	0.044379774	0.05735	-5.069	0.38799	T	.	.	0.183	0.42346	B	.;.	.;.	1.079481	0.14625	11.18	0.65931159684803642	0.07913	0.17428	0.19833	N	AEFDBI	0.148750	0.27270	N	-1.15219466408591	0.05744	0.2626631	-1.21295770557281	0.05701	0.2723853	0.999415319775984	0.39577	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	0.827	0.17972	-0.311000	0.08164	1.108000	0.24132	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.1419:0.0:0.6121:0.246	3.473	0.07138	637	0.64373	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1	101.74	119	chr6	26468202	.	G	C	101.74	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-5.090e+00;DP=3171;ExcessHet=0.3300;FS=149.650;InbreedingCoeff=-0.1659;MLEAC=4;MLEAF=0.133;MQ=60.00;MQRankSum=0.00;QD=0.15;ReadPosRankSum=1.79;SOR=10.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:174,38:215:15:.:.:15,0,3670	12	0	3	6
chr6	29670209	29670209	C	T	exonic	MOG	.	nonsynonymous SNV	MOG:NM_001170418:exon5:c.C280T:p.P94S	.	.	0	1504	17	1	0	19	0.00627684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.007	B	0.005	B	0.002	N	1.000	N	0	N	3.03	T	-1.001	T	0.013	T	0.054	1.153	9.697	-0.587	-0.217	-2.885	2.704	0.017	0.00491589924895	0.0020	0.00159744	0.0017	0.0013	0.0017	0.0037	0.0002	0.0020	0.0011	0.0004	0.0016559	256	154602	rs144521033	0.0013	0.0013	0.0013	0.0013	0.0116	0.0012	0.0012	0.0094	0.0086	0.0021	0.0022	0.0002	0.0014	9.36e-05	0.0116	0.0013	0.0017	0.0003	0.0022	0.0023	0.0020	0.0025	0.0064	0.0020	0.0020	0.0054	0.0050	0.0022	0	0.0064	0.0003	0.0010	0.0004	0.0136	0.0019	0.0043	0.0002	0.183	0.35165	T	0.19	0.35455	T	0.007	0.14184	B	0.005	0.11217	B	0.001506	0.38793	N	0.000000	1	0.08975	N	.	.	.	3.03	0.34050	T	0.4	0.21003	N	0.148	0.15046	-1.0010	0.29631	T	0.013	0.05273	T	10	0.0040219426	0.00078	T	0.004916	0.12349	T	0.017	0.02790	.	.	0.112648838833	0.10856	.	.	.	.	.	.	.	.	.	.	-0.677932	0.00049	T	-0.750882	0.03452	T	0.00239444148097836	0.00025	T	0.523848	0.17156	T	.	.	.	.	.	.	.	.	-3.305	0.20999	T	.	.	0.091	0.15296	B	.;.;.	.;.;.	0.290783	0.06670	3.173	0.96267949237898709	0.29237	0.00374	0.01900	N	AEFBI	0.041934	0.06440	N	-1.34368122632657	0.03191	0.1421225	-1.41678482763821	0.03084	0.1431713	0.745841995104047	0.23283	0.497415	0.19182	0	0.59043	0.45803	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	1.51	-0.587	0.11104	-0.645000	0.05506	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.095000	0.18041	0.0:0.4759:0.3095:0.2146	2.704	0.04839	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	761.98	35	chr6	29670209	.	C	T	761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=746;ExcessHet=0.0000;FS=4.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=0.760;SOR=1.325	GT:AD:DP:GQ:PL	0/1:40,29:69:99:776,0,953	20	0	1	0
chr6	29672639	29672639	G	C	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.C1256G:p.T419S	Diabetes mellitus, transient neonatal, 1	.	0	1504	17	1	0	19	0.00627684	.	.	306735	ZFP57-related_disorder|Inborn_genetic_diseases|Diabetes_mellitus,_transient_neonatal,_1|not_provided|Monogenic_diabetes	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.24	T	0.001	B	0.001	B	0.591	N	1.000	N	0.06	N	3.73	T	-0.917	T	0.004	T	0.108	-0.502	1.701	2.1	0.590	0.539	5.460	0.024	0.00190118755506	0.0017	0.00139776	0.0017	0.0012	0.0017	0.0038	0.0002	0.0021	0.0012	0.0004	0.0015847	245	154602	rs184974475	0.0013	0.0013	0.0012	0.0013	0.0118	0.0012	0.0012	0.0095	0.0087	0.0020	0.0022	0.0002	0.0013	9.56e-05	0.0118	0.0013	0.0017	0.0003	0.0022	0.0022	0.0020	0.0024	0.0064	0.0020	0.0019	0.0054	0.0050	0.0021	0	0.0064	0.0003	0.0006	0.0004	0.0136	0.0019	0.0043	0.0002	0.712	0.06184	T	0.723	0.05327	T	0.001	0.07471	B	0.001	0.04355	B	0.590743	0.05590	N	1.274180	1	0.08975	N	.	.	.	3.5	0.05014	T	0.0	0.08033	N	0.101	0.08366	-0.9171	0.45945	T	0.004	0.01192	T	10	0.0045357347	0.00094	T	0.001901	0.03351	T	0.024	0.04979	0.402	0.43245	0.148003135375	0.14442	0.03766993490955309	0.03712	0.378906110955	0.39296	0.229772150517	0.01951	T	0.03042	0.21569	T	-0.69835	0.00037	T	-0.780834	0.02428	T	0.000544253170481843	0.00005	T	0.430757	0.11694	T	0.03004531	0.02601	0.035159912	0.02715	0.029300796	0.02403	0.038980663	0.03888	-2.821	0.08378	T	.	.	0.118	0.33504	B	.;.;.	.;.;.	0.037726	0.04550	1.238	0.45622253194593004	0.03594	0.07236	0.13259	N	AEFDBI	0.121750	0.23657	N	-1.02811104708398	0.08024	0.3747867	-1.02724837877177	0.09188	0.4557328	0.971970142574129	0.29332	0.549168	0.22868	0	0.627178	0.54094	0	0.536957	0.11973	0	0.542086	0.14980	0	.	.	3.9	2.1	0.26226	0.434000	0.21212	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1118:0.2044:0.6839:0.0	5.460	0.15907	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1150.98	38	chr6	29672639	.	G	C	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.501e+00;DP=793;ExcessHet=0.0000;FS=0.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=-1.619e+00;SOR=0.593	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1165,0,1431	20	0	1	0
chr6	29673078	29673078	C	G	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.G817C:p.A273P	Diabetes mellitus, transient neonatal, 1	.	0	1504	17	1	0	19	0.00627684	.	.	895739	not_provided|ZFP57-related_disorder|Diabetes_mellitus,_transient_neonatal,_1|Monogenic_diabetes	MedGen:C3661900|.|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.0	B	0.463	N	1.000	N	-0.385	N	3.62	T	-0.897	T	0.004	T	0.067	0.581	7.136	-0.054	-0.257	0.147	13.807	0.032	0.00624814265874	0.0019	0.00139776	0.0017	0.0014	0.0017	0.0038	0.0002	0.0021	0.0012	0.0004	0.0016106	249	154602	rs200537697	0.0013	0.0013	0.0012	0.0013	0.0118	0.0012	0.0012	0.0095	0.0087	0.0021	0.0022	0.0002	0.0013	9.558e-05	0.0118	0.0013	0.0017	0.0003	0.0022	0.0022	0.0020	0.0024	0.0064	0.0020	0.0019	0.0054	0.0050	0.0022	0	0.0064	0.0003	0.0006	0.0004	0.0136	0.0018	0.0043	0.0002	0.373	0.14449	T	0.6	0.15255	T	0.0	0.02946	B	0.0	0.01387	B	0.463105	0.04882	N	1.433100	1	0.08975	N	.	.	.	3.39	0.05710	T	-0.32	0.13035	N	0.059	0.03069	-0.8972	0.48273	T	0.004	0.01125	T	10	0.0032929778	0.00057	T	0.006248	0.16406	T	0.032	0.07718	.	.	0.115124310173	0.11017	0.14650678569100284	0.14572	0.545258417384	0.51564	0.20549055934	0.00634	T	0.031246	0.21951	T	-0.708877	0.00032	T	-0.795333	0.02022	T	0.00105308816652138	0.00010	T	0.236776	0.03305	T	0.07126519	0.15763	0.1726065	0.39527	0.07834166	0.17834	0.17184934	0.39397	-5.776	0.45316	T	.	.	0.081	0.08368	B	.;.;.	.;.;.	0.054010	0.04668	1.317	0.75036840081019685	0.10921	0.00187	0.01088	N	AEFBI	0.052410	0.09352	N	-1.33677804670419	0.03264	0.145503	-1.32734372575096	0.04081	0.1917156	0.772892689899756	0.23703	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.0	-0.0543	0.13145	0.003000	0.12984	.	.	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.732:0.163:0.105	13.807	0.62729	856	0.34373	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1328.98	38	chr6	29673078	.	C	G	1328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.92;DP=801;ExcessHet=0.0000;FS=2.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-3.450e-01;SOR=0.965	GT:AD:DP:GQ:PL	0/1:62,42:104:99:1343,0,1694	20	0	1	0
chr6	29673579	29673579	A	G	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.T316C:p.Y106H	Diabetes mellitus, transient neonatal, 1	.	0	1504	17	1	0	19	0.00627684	.	.	895744	Monogenic_diabetes|Inborn_genetic_diseases|ZFP57-related_disorder|not_provided|Diabetes_mellitus,_transient_neonatal,_1	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.955	N	1.000	N	-0.575	N	0.87	T	-0.978	T	0.013	T	0.035	-2.196	0.005	0.433	-0.146	-0.662	2.620	0.061	0.00282120314739	0.0019	0.00139776	0.0017	0.0014	0.0017	0.0038	0.0002	0.0021	0.0012	0.0004	0.0015977	247	154602	rs146835830	0.0013	0.0013	0.0012	0.0013	0.0118	0.0012	0.0012	0.0095	0.0087	0.0021	0.0022	0.0002	0.0013	9.559e-05	0.0118	0.0013	0.0017	0.0003	0.0022	0.0022	0.0020	0.0024	0.0064	0.0020	0.0019	0.0054	0.0050	0.0022	0	0.0064	0.0003	0.0006	0.0004	0.0136	0.0018	0.0033	0.0002	0.666	0.06204	T	0.662	0.08961	T	0.0	0.02946	B	0.0	0.01387	B	0.954987	0.08262	N	0.972197	1	0.08975	N	.	.	.	0.87	0.46412	T	2.11	0.00435	N	0.138	0.14480	-0.9776	0.35548	T	0.013	0.04985	T	10	0.0046658516	0.00098	T	0.002821	0.05898	T	0.061	0.17616	.	.	0.162503812791	0.15892	0.12665747826524515	0.12591	0.545626151938	0.51587	0.236916989088	0.02519	T	0.027547	0.20149	T	-0.716868	0.00029	T	-0.807123	0.01731	T	0.00261265143888011	0.00027	T	0.00640936	0.00046	T	0.02757644	0.01969	0.044972137	0.05946	0.03679415	0.04594	0.048826136	0.07332	-1.516	0.03367	T	.	.	0.185	0.44135	B	.;.;.	.;.;.	-0.126846	0.03484	0.652	0.314094566136839	0.01768	0.00543	0.02498	N	AEFBI	0.057174	0.10630	N	-1.38297639332757	0.02797	0.1240477	-1.37971277985738	0.03469	0.1618712	0.797342953620268	0.24123	0.533608	0.22052	0	0.610034	0.51514	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	3.42	0.433	0.15747	-3.472000	0.00511	.	.	-0.103000	0.15852	0.000000	0.06391	0.044000	0.21668	0.027000	0.12703	0.3184:0.0:0.3256:0.3559	2.620	0.04616	856	0.34373	.;.;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	0	0	0	0	0	0	0	1	0	0	0	0.02381	1491.98	42	chr6	29673579	.	A	G	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.375e+00;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=-1.020e+00;SOR=0.652	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1506,0,1588	20	0	1	0
chr6	29673636	29673636	T	A	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.A259T:p.T87S	Diabetes mellitus, transient neonatal, 1	.	0	1504	17	1	0	19	0.00627684	.	.	307058	Inborn_genetic_diseases|ZFP57-related_disorder|not_provided|Monogenic_diabetes|Diabetes_mellitus,_transient_neonatal,_1	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.42	T	0.0	B	0.0	B	0.062	N	1.000	N	-0.345	N	3.76	T	-0.930	T	0.002	T	0.013	-0.915	0.407	0.312	-0.212	-1.115	3.622	0.007	0.00204713278088	0.0019	0.00139776	0.0017	0.0014	0.0017	0.0038	0.0002	0.0021	0.0012	0.0004	0.0015977	247	154602	rs201703858	0.0013	0.0013	0.0012	0.0013	0.0116	0.0012	0.0012	0.0094	0.0086	0.0021	0.0022	0.0002	0.0013	9.56e-05	0.0116	0.0013	0.0017	0.0003	0.0022	0.0022	0.0020	0.0024	0.0064	0.0020	0.0019	0.0054	0.0050	0.0022	0	0.0064	0.0003	0.0006	0.0004	0.0136	0.0019	0.0043	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.062137	0.22119	N	0.234003	1	0.08975	N	.	.	.	3.5	0.05014	T	0.35	0.03955	N	0.022	0.00372	-0.9298	0.44168	T	0.002	0.00676	T	10	0.0040598214	0.00079	T	0.002047	0.03748	T	0.007	0.00512	0.279	0.23323	0.128392430309	0.12331	0.030834241280587222	0.03032	0.374455605412	0.38907	0.326435446739	0.14395	T	.	.	.	-0.784202	0.00010	T	-0.903844	0.00476	T	0.000298600996568799	0.00002	T	0.0920908	0.00681	T	.	.	.	.	.	.	.	.	-2.755	0.07874	T	.	.	0.103	0.18289	B	.;.	.;.	-0.952589	0.00841	0.029	0.64164633450801511	0.07419	0.00226	0.01270	N	AEFBI	0.038722	0.05520	N	-1.42609844258968	0.02411	0.1064481	-1.43819827313715	0.02879	0.1332465	0.742830534586455	0.23239	0.516011	0.20929	0	0.610034	0.51514	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	2.98	0.312	0.15082	-2.147000	0.01379	.	.	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3996:0.204:0.0:0.3963	3.622	0.07640	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1390.98	42	chr6	29673636	.	T	A	1390.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=818;ExcessHet=0.0000;FS=3.505;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=1.73;SOR=0.902	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1405,0,1481	20	0	1	0
chr6	29942795	29942795	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.C112T:p.R38W	.	.	1	1321	200	0	0	200	0.070373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.98	D	0.690	U	0.991	N	3.54	H	5.54	T	-0.994	T	0.009	T	0.742	2.152	13.15	1.87	0.363	0.209	5.323	0.141	.	.	.	0.0603	0.0995	0.1022	0.0272	0.0692	0.0516	0.0599	0.0590	0.0488804	7557	154602	rs45569434	6.38e-05	0.0006	3.982e-05	8.774e-05	0.0003	5.181e-05	4.787e-05	0.0001	0.0001	0.0001	0.0003	0.0002	0.0001	0.0001	0	5.282e-05	5.858e-05	1.255e-05	1.763e-05	0.0004	1.698e-05	1.832e-05	3.158e-05	2.93e-06	1.1e-06	.	.	3.158e-05	0	0	0	0	0	0	1.921e-05	0	0	0.0	0.91255	D	0.027	0.55341	D	1.0	0.90584	D	0.98	0.74843	D	0.690295	0.10182	U	0.758419	0.991328	0.24050	N	.	.	.	5.54	0.00885	T	-5.95	0.90140	D	0.086	0.09631	-0.9942	0.31512	T	0.009	0.03011	T	10	0.009814292	0.00220	T	.	.	.	0.141	0.37795	.	.	.	.	0.2815732018754056	0.28070	0.458621484478	0.45471	0.351919740438	0.18205	T	0.028248	0.20504	T	0.0221942	0.54678	T	-0.205896	0.54087	T	0.132723840102629	0.15631	T	0.657134	0.26688	T	0.38850322	0.59925	0.5650758	0.74827	0.38850322	0.59926	0.5650758	0.74828	-10.028	0.74079	D	.	.	0.146	0.39271	B	.;.;.;.;.	.;.;.;.;.	3.559205	0.50069	22.9	0.99688396903793897	0.79775	0.02454	0.06901	N	AEFDGBHCI	0.351151	0.44436	N	0.195067772507188	0.50963	3.281393	-0.0380896100270192	0.38011	2.23339	0.999999980882174	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.72	1.87	0.24559	0.353000	0.19868	.	.	0.397000	0.20528	0.010000	0.18352	0.000000	0.08366	0.029000	0.12982	0.0:0.6744:0.2073:0.1183	5.323	0.15197	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.119	926.44	142	chr6	29942795	.	C	T	926.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-8.950e-01;DP=2773;ExcessHet=1.1607;FS=4.085;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=57.24;MQRankSum=-6.125e+00;QD=1.24;ReadPosRankSum=2.87;SOR=0.953	GT:AD:DP:GQ:PL	0/1:105,9:114:62:62,0,4253	16	0	5	0
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	27213.23	96	chr6	29942984	.	G	A,*	27213.23	.	AC=17,4;AF=0.447,0.105;AN=38;BaseQRankSum=2.07;DP=1862;ExcessHet=2.0051;FS=0.540;InbreedingCoeff=-0.1455;MLEAC=18,4;MLEAF=0.474,0.105;MQ=58.85;MQRankSum=-2.139e+00;QD=18.59;ReadPosRankSum=-7.460e-01;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,76,0:76:99:.:.:3420,229,0,3420,229,3420	3	4	8	2
chr6	29943542	29943542	G	0	exonic	HLA-A	.	.	.	.	.	2	437	1008	1	74	1084	0.536093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6146.8	107	chr6	29943542	.	G	T,*	6146.8	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-1.114e+00;DP=2095;ExcessHet=14.4320;FS=2.349;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=58.53;MQRankSum=-3.892e+00;QD=4.14;ReadPosRankSum=1.73;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,29,0:113:99:.:.:534,0,2412,786,2499,3285	6	0	13	1
chr6	30157034	30157034	C	T	exonic	TRIM10	.	nonsynonymous SNV	TRIM10:NM_006778:exon5:c.G800A:p.R267Q	.	.	434	1075	13	0	0	13	0.00601017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.948	P	0.322	B	0.000	D	0.550	N	1.46	L	3.82	T	-0.967	T	0.004	T	0.382	3.220	16.79	4.68	2.809	0.201	11.289	0.110	.	0.0090	0.00359425	0.0077	0.0024	0.0042	0	0.0104	0.0112	0.0069	0.0025	0.0069792	1079	154602	rs144731721	0.0081	0.0081	0.0083	0.0079	0.0092	0.0080	0.0079	0.0090	0.0090	0.0014	0.0044	0.0057	0.0003	0.0107	0.0068	0.0092	0.0071	0.0024	0.0073	0.0073	0.0069	0.0077	0.0100	0.0069	0.0068	0.0094	0.0091	0.0020	0.0910	0.0065	0.0061	0	0.0106	0	0.0100	0.0066	0.0029	0.033	0.44358	D	0.625	0.07316	T	0.913	0.53620	P	0.129	0.41795	B	0.000061	0.52346	D	0.000000	0.549516	0.31346	N	1.455	0.36767	L	3.82	0.03728	T	0.97	0.02297	N	0.21	0.23380	-0.9671	0.37794	T	0.004	0.01365	T	10	0.003029883	0.00050	T	.	.	.	0.110	0.31079	.	.	0.266385636622	0.26244	0.16186742443344518	0.16107	0.420563270104	0.42581	0.469495266676	0.34610	T	2.96E-4	0.00073	T	-0.517685	0.00454	T	-0.507	0.21623	T	0.0197773522315318	0.00679	T	.	.	.	0.19610429	0.41425	0.20326965	0.44395	0.19610429	0.41425	0.20326965	0.44394	-2.835	0.08510	T	.	.	0.080	0.13503	B	.;.	.;.	2.963804	0.39475	21.0	0.99862671745657383	0.94093	0.31410	0.24330	N	AEFDBI	0.174159	0.30128	N	0.0202556560660512	0.42777	2.583852	0.0953531941251833	0.44313	2.715592	0.999999449537794	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.631631	0.49550	0	.	.	5.61	4.68	0.58319	0.341000	0.19652	.	.	0.585000	0.30472	0.000000	0.06391	1.000000	0.68203	0.979000	0.57723	0.1816:0.8183:0.0:0.0	11.289	0.48477	840	0.37365	.;.	HLA-K|ZFP57|HLA-K|ZFP57|ZFP57|HLA-H|HCG4P7|HCG4P7|HLA-K|HLA-K|TRIM31-AS1|ZFP57|HLA-H|HCG4P7|HLA-K|ZFP57	Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood	HLA-H|HLA-H|HLA-H|HLA-A|HLA-H|HLA-A	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1972.11	33	chr6	30157034	.	C	T	1972.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.17;DP=842;ExcessHet=0.1072;FS=1.927;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=-1.400e-02;SOR=0.548	GT:AD:DP:GQ:PL	0/1:48,53:101:99:1310,0,1107	19	0	2	0
chr6	30920403	30920403	T	A	exonic	VARS2	.	nonsynonymous SNV	VARS2:NM_001167733:exon13:c.T944A:p.L315H	Combined oxidative phosphorylation deficiency 20, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.132	B	0.081	B	0.134	N	1.000	N	0.205	N	1.47	T	-1.050	T	0.018	T	0.429	1.376	10.53	4.27	1.711	1.395	7.399	0.148	0.0108522416045	.	.	8.367e-06	0	0	0	0	1.514e-05	0	0	6.5e-06	1	154602	rs755926246	4.793e-06	5.472e-06	2.725e-06	6.883e-06	0.0007	1.99e-06	1.28e-06	0.0002	0.0001	0	0	0	0	0	0.0007	2.699e-06	0	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	0.095	0.31235	T	0.207	0.29843	T	0.132	0.27209	B	0.081	0.28987	B	0.134212	0.18524	N	0.544734	1	0.08975	N	-0.46	0.02758	N	1.47	0.31987	T	-2.07	0.47344	N	0.433	0.47672	-1.0497	0.14481	T	0.018	0.07659	T	10	0.10396537	0.19141	T	0.010852	0.27853	T	0.148	0.39182	0.531	0.63855	0.340273420219	0.33633	0.47640758769677055	0.47560	0.590791334462	0.54529	0.432230621576	0.29513	T	0.007755	0.07145	T	-0.198228	0.21061	T	-0.458871	0.26722	T	0.089649833796465	0.11176	T	0.564843	0.25169	T	0.13623852	0.31589	0.21674563	0.46313	0.10702737	0.25308	0.23116352	0.48239	-10.582	0.78134	D	.	.	0.132	0.33342	B	.;.;.	.;.;.	2.790188	0.36673	20.3	0.93711069616527831	0.23629	0.11591	0.16734	N	AEFBI	0.104364	0.20883	N	-0.458908590549455	0.23439	1.258712	-0.332101004879464	0.27068	1.499451	0.998329572078748	0.36758	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	0.819000	0.26965	.	.	0.665000	0.62972	0.000000	0.06391	0.981000	0.30433	0.998000	0.85391	0.1941:0.0:0.0:0.8059	7.399	0.26123	917	0.20147	Aminoacyl-tRNA synthetase, class Ia;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1156.98	42	chr6	30920403	.	T	A	1156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.330e-01;DP=925;ExcessHet=0.0000;FS=1.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=0.829;SOR=0.944	GT:AD:DP:GQ:PL	0/1:52,45:97:99:1171,0,1387	20	0	1	0
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8675.72	395	chr6	31026275	.	A	T,*	8675.72	.	AC=1,8;AF=0.024,0.190;AN=42;BaseQRankSum=-4.499e+00;DP=9847;ExcessHet=0.9430;FS=5.229;InbreedingCoeff=0.0101;MLEAC=1,8;MLEAF=0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=2.13;ReadPosRankSum=0.273;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:403,0,151:554:99:0|1:31026245_ACCACAGGCT_A:5121,6334,23256,0,16922,16467:31026245	13	0	1	0
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	200572.81	770	chr6	31028713	.	C	T,*	200572.81	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=1.28;DP=14734;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=13,2;MLEAF=0.310,0.048;MQ=59.98;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-4.400e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:509,449,0:958:99:0|1:31028713_C_T:16592,0,19249,18131,20598,38729:31028713	9	2	8	0
chr6	31029812	31029812	-	CTGAGACCACCACAGCCTCCACTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4381_4382insCTGAGACCACCACAGCCTCCACTG:p.S1461_G1462insETTTASTA	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0016	0.0071	0.0015	0.0014	0.0052	0.0046	0.0002	0.0014	0.0048	0.0004	0.0062	0.0071	0.0012	0.0021	0.0041	0.0005	0.0005	0.0006	0.0005	0.0013	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0005	0.0018	0.0002	0.0009	0	0.0007	0.0007	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:857,342,0,0:1199:99:0|1:31029778_C_A:3056,0,34138,5629,34868,40498,5629,34868,40498,40498:31029778	8	0	6	2
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:857,342,0,0:1199:99:0|1:31029778_C_A:3056,0,34138,5629,34868,40498,5629,34868,40498,40498:31029778	8	0	6	2
chr6	31029828	31029828	A	0	exonic	MUC22	.	.	.	.	.	423	969	80	0	50	130	0.0396432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	5569.5	583	chr6	31029828	.	A	C,*	5569.5	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-1.683e+00;DP=14086;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1831;MLEAC=2,4;MLEAF=0.050,0.100;MQ=59.56;MQRankSum=-4.977e+00;QD=1.04;ReadPosRankSum=-8.380e+00;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:942,0,342:1284:99:0|1:31029778_C_A:2790,5621,44662,0,39041,38318:31029778	14	0	2	1
chr6	31029837	31029839	GTA	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.4406_4408del:p.C1469_T1470delinsS	.	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.275e-05	0	0	0	.	0	0	0.0001	.	.	.	rs775610649	0.0023	0.0032	0.0022	0.0024	0.0049	0.0022	0.0022	0.0043	0.0040	0.0009	0.0049	0.0030	0.0036	0.0157	0.0033	0.0018	0.0031	0.0023	0.0026	0.0070	0.0025	0.0026	0.0036	0.0023	0.0023	0.0028	0.0026	0.0008	0.0046	0.0036	0.0024	0.0004	0.0056	0.0036	0.0031	0.0029	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4844.79	583	chr6	31029836	.	TGTA	T,*	4844.79	.	AC=2,4;AF=0.048,0.095;AN=42;BaseQRankSum=-1.082e+00;DP=14123;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1667;MLEAC=2,4;MLEAF=0.048,0.095;MQ=59.64;MQRankSum=-1.155e+01;QD=0.91;ReadPosRankSum=-9.982e+00;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:942,0,342:1284:99:0|1:31029778_C_A:2790,5621,44662,0,39041,38318:31029778	15	0	2	0
chr6	31029836	31029839	TGTA	0	exonic	MUC22	.	.	.	.	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4844.79	583	chr6	31029836	.	TGTA	T,*	4844.79	.	AC=2,4;AF=0.048,0.095;AN=42;BaseQRankSum=-1.082e+00;DP=14123;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1667;MLEAC=2,4;MLEAF=0.048,0.095;MQ=59.64;MQRankSum=-1.155e+01;QD=0.91;ReadPosRankSum=-9.982e+00;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:942,0,342:1284:99:0|1:31029778_C_A:2790,5621,44662,0,39041,38318:31029778	15	0	2	0
chr6	31029847	31029847	T	0	exonic	MUC22	.	.	.	.	.	427	1042	49	0	4	53	0.0229723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2266.5	583	chr6	31029847	.	T	C,*	2266.5	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=2.16;DP=13767;ExcessHet=1.7912;FS=0.695;InbreedingCoeff=-0.1831;MLEAC=2,4;MLEAF=0.050,0.100;MQ=59.71;MQRankSum=-4.957e+00;QD=0.44;ReadPosRankSum=-1.045e+01;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:884,0,341:1225:99:0|1:31029778_C_A:2918,5579,42698,0,37119,36400:31029778	14	0	2	1
chr6	31138724	31138724	-	C	exonic	PSORS1C1	.	frameshift insertion	PSORS1C1:NM_014068:exon5:c.112dupC:p.H40Pfs*3,	.	.	442	561	311	61	147	580	0.278457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	80570.49	135	chr6	31138723	.	TC	TCC,T	80570.49	.	AC=15,5;AF=0.357,0.119;AN=42;BaseQRankSum=0.541;DP=5630;ExcessHet=8.0185;FS=0.525;InbreedingCoeff=-0.3364;MLEAC=15,5;MLEAF=0.357,0.119;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=0.407;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,145,0:305:99:.:.:3491,0,3951,3973,4387,8360	4	3	9	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M	.	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.028	B	0.035	B	.	.	1.000	P	2.105	M	5.37	T	-0.965	T	0.002	T	0.376	-0.110	3.463	-1.63	-0.380	0.547	3.715	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	24199.8	109	chr6	31270002	.	C	T	24199.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-8.100e-01;DP=3021;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=59.14;MQRankSum=-1.400e-01;QD=18.73;ReadPosRankSum=-1.480e-01;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,81:175:99:.:.:1990,0,2417	12	1	8	0
chr6	31270056	31270056	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.A925T:p.M309L	.	.	81	51	300	1006	84	2396	0.957746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	1.575	L	5.84	T	-1.004	T	0.001	T	0.425	-0.069	3.663	-3.63	-1.536	-2.290	10.581	0.120	.	.	0.0177716	0.0078	0.0433	0.0067	0.0001	0.0026	0.0052	0.0092	0.0028	0.0070245	1086	154602	rs1050180	2.484e-05	0.0016	2.064e-05	2.915e-05	0.0005	1.588e-05	1.28e-05	0.0002	0.0002	0.0005	0.0001	0	0	0	0	1.125e-05	0	0.0001	3.397e-05	0.0042	3.245e-05	3.565e-05	8.98e-05	5.64e-06	2.11e-06	.	.	8.98e-05	0	0	0	0	0	0	3.028e-05	0	0	0.018	0.50676	D	0.125	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.82	0.00657	T	-0.4	0.14978	N	0.067	0.04307	-1.0040	0.28755	T	0.001	0.00378	T	9	0.0030311644	0.00050	T	.	.	.	0.120	0.33359	0.407	0.44066	0.0762999501168	0.06990	0.10785664231938592	0.10714	0.459405056151	0.45523	0.250036120415	0.03772	T	0.006007	0.05450	T	-0.585568	0.00178	T	-0.561255	0.16258	T	0.00351274895036235	0.00037	T	0.210379	0.02537	T	.	.	.	.	.	.	.	.	-5.459	0.41483	T	.	.	0.115	0.25850	B	.;.;.	.;.;.	0.455434	0.08254	4.996	0.33681637653518909	0.02019	0.04374	0.09949	N	AEFBHCI	0.092565	0.18738	N	-1.68195883182571	0.00907	0.0392893	-1.81546310783018	0.00711	0.03167287	0.999999606301239	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.63	0.04238	-3.041000	0.00696	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2105:0.0:0.7895	10.581	0.44447	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.8333	81957.2	114	chr6	31270056	.	T	C,A	81957.2	.	AC=33,4;AF=0.786,0.095;AN=42;BaseQRankSum=-1.136e+00;DP=2977;ExcessHet=1.1607;FS=0.717;InbreedingCoeff=-0.1351;MLEAC=33,4;MLEAF=0.786,0.095;MQ=59.64;MQRankSum=0.00;QD=28.32;ReadPosRankSum=0.291;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,186,0:186:99:1|1:31270056_T_C:7799,559,0,7799,559,7799:31270056	0	13	5	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I	.	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.005	B	0.002	U	1.000	P	3.3	M	4.31	T	-1.111	T	0.009	T	0.422	-0.903	0.431	2.67	1.821	0.868	9.019	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	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	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.2381	10478.8	66	chr6	31270250	.	C	A	10478.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.683;DP=1987;ExcessHet=1.5138;FS=6.263;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=51.19;MQRankSum=-1.731e+00;QD=13.25;ReadPosRankSum=-1.916e+00;SOR=1.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,31:68:99:.:.:1016,0,1110	12	1	8	0
chr6	31271103	31271103	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G589A:p.E197K	.	.	0	1403	119	0	0	119	0.0406838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.009	B	0.790	U	0.427	P	3.07	M	5.6	T	-0.366	T	0.302	T	0.65	2.525	14.40	2.71	1.826	-0.307	11.543	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	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.04762	2417.11	147	chr6	31271103	.	C	T	2417.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.815;DP=3037;ExcessHet=0.1072;FS=2.412;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=54.23;MQRankSum=1.59;QD=9.55;ReadPosRankSum=1.79;SOR=0.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,31:122:99:.:.:1028,0,3728	19	0	2	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	37138.39	180	chr6	31271153	.	A	C,T,*	37138.39	.	AC=19,1,4;AF=0.452,0.024,0.095;AN=42;BaseQRankSum=3.30;DP=3892;ExcessHet=30.0624;FS=1.107;InbreedingCoeff=-0.7500;MLEAC=19,1,4;MLEAF=0.452,0.024,0.095;MQ=52.03;MQRankSum=-2.061e+00;QD=9.74;ReadPosRankSum=-8.020e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,40,1,0:132:99:.:.:1049,0,2664,1347,2914,5215,1357,2909,4810,4673	0	0	16	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	17754.15	108	chr6	31271337	.	G	T,*	17754.15	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-1.740e-01;DP=1928;ExcessHet=2.0984;FS=6.544;InbreedingCoeff=-0.0716;MLEAC=13,1;MLEAF=0.310,0.024;MQ=56.58;MQRankSum=-3.890e+00;QD=13.85;ReadPosRankSum=-1.971e+00;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,59,0:109:99:0|1:31271337_G_T:2307,0,1922,2457,2099,4557:31271337	9	2	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.017	N	0.986	N	-3.21	N	4.34	T	-1.015	T	0.000	T	0.312	0.549	6.971	1.33	0.182	0.951	7.857	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	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.2381	3496.72	194	chr6	31355425	.	T	C	3496.72	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.611;DP=3822;ExcessHet=6.1002;FS=21.379;InbreedingCoeff=-0.3069;MLEAC=10;MLEAF=0.238;MQ=58.03;MQRankSum=-1.346e+01;QD=1.73;ReadPosRankSum=-2.710e-01;SOR=1.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:212,18:230:8:.:.:8,0,6670	11	0	10	0
chr6	31356181	31356181	T	0	exonic	HLA-B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	57800.2	50	chr6	31356181	.	T	G,*	57800.2	.	AC=38,3;AF=0.905,0.071;AN=42;BaseQRankSum=1.60;DP=1491;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=38,3;MLEAF=0.905,0.071;MQ=50.44;MQRankSum=-8.849e+00;QD=30.79;ReadPosRankSum=-3.020e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,28,0:130:99:0|1:31356168_A_C:853,0,4187,1160,4272,5432:31356168	0	17	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21954.91	76	chr6	31356247	.	C	A,*	21954.91	.	AC=18,9;AF=0.429,0.214;AN=42;BaseQRankSum=5.54;DP=2356;ExcessHet=8.1482;FS=3.246;InbreedingCoeff=-0.3481;MLEAC=18,9;MLEAF=0.429,0.214;MQ=47.98;MQRankSum=-2.470e+00;QD=9.84;ReadPosRankSum=-1.782e+00;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,131,0:172:99:.:.:3860,0,791,3983,1185,5168	1	0	12	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9973.12	43	chr6	31356431	.	G	T,*	9973.12	.	AC=16,13;AF=0.381,0.310;AN=42;BaseQRankSum=1.15;DP=1007;ExcessHet=1.3217;FS=1.278;InbreedingCoeff=-0.0027;MLEAC=16,13;MLEAF=0.381,0.310;MQ=57.28;MQRankSum=-3.660e-01;QD=10.84;ReadPosRankSum=0.037;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,9,0:69:99:0|1:31356399_C_G:177,0,2492,358,2519,2877:31356399	2	3	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	858.89	101	chr6	31356748	.	CCT	*,C	858.89	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=54.46;QD=0.42;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,125,0:125:99:1|1:31356739_C_A:5625,376,0,5625,376,5625:31356739	0	20	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	29744.11	115	chr6	31356827	.	T	C,*	29744.11	.	AC=12,23;AF=0.286,0.548;AN=42;DP=3294;ExcessHet=2.5830;FS=0.696;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=51.01;QD=9.20;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,67,95:162:99:0|1:31356827_T_C:6764,3953,3819,2796,0,2506:31356827	0	5	0	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	28073.94	58	chr6	31412384	.	G	GCT,*,GCTGCTGCTGCT	28073.94	.	AC=14,13,5;AF=0.333,0.310,0.119;AN=42;BaseQRankSum=1.31;DP=1521;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=14,13,5;MLEAF=0.333,0.310,0.119;MQ=60.00;MQRankSum=0.00;QD=21.78;ReadPosRankSum=-1.530e-01;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:37,0,0,33:70:99:.:.:1213,1325,2809,1325,2809,2809,0,1485,1485,1386	2	2	2	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.637	P	0.000	D	0.995	D	1.495	L	4.53	T	-0.837	T	0.008	T	0.68	1.237	10.02	5.06	2.122	3.154	13.917	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9616.67	116	chr6	31625601	.	T	C	9616.67	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-3.022e+00;DP=2814;ExcessHet=36.0830;FS=243.392;InbreedingCoeff=-0.8806;MLEAC=20;MLEAF=0.526;MQ=59.99;MQRankSum=0.00;QD=3.79;ReadPosRankSum=1.23;SOR=12.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,37:154:99:0|1:31625601_T_C:280,0,3673:31625601	0	0	19	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.651	14.83	5.06	2.628	4.365	17.348	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,53,0:151:99:0|1:31625601_T_C:881,0,2434,1161,2586,3747:31625601	0	0	18	2
chr6	31625602	31625602	G	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750C:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.530	14.42	5.06	2.628	4.365	17.348	0.179	0.0240778972107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999345	0.46733	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.2299856	0.39939	T	0.024078	0.47063	T	0.179	0.44899	0.192	0.10304	0.187035705434	0.18338	0.40434127179304075	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.0346369	0.46741	T	-0.28753	0.46029	T	0.797656714916229	0.46194	D	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.164074	0.62562	24.5	0.98851704410504837	0.47305	0.96934	0.71741	D	AEFDBCI	0.644900	0.62099	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,53,0:151:99:0|1:31625601_T_C:881,0,2434,1161,2586,3747:31625601	0	0	18	2
chr6	31764524	31764524	G	A	exonic	SAPCD1	.	nonsynonymous SNV	SAPCD1:NM_001039651:exon5:c.G530A:p.R177H,	.	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.001	B	.	.	1.000	N	.	.	1.51	T	-1.008	T	0.011	T	0.064	2.335	13.76	-9.33	-1.640	-1.979	2.682	0.011	0.00477405394649	0.0006	0.00159744	0.0018	0.0002	0.0014	0	0.0032	0.0012	0.0058	0.0058	0.0016235	251	154602	rs28399994	0.0012	0.0012	0.0010	0.0014	0.0053	0.0011	0.0011	0.0049	0.0047	2.993e-05	0.0009	0.0010	0	0.0027	0.0016	0.0009	0.0016	0.0053	0.0010	0.0010	0.0008	0.0012	0.0056	0.0009	0.0008	0.0039	0.0034	0.0002	0	0.0006	0.0009	0.0004	0.0022	0	0.0011	0.0005	0.0056	0.466	0.10278	T	0.099	0.43159	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.51	0.31205	T	-0.85	0.23156	N	0.069	0.08227	-1.0075	0.27696	T	0.011	0.03949	T	8	0.0028363168	0.00045	T	0.004774	0.11910	T	0.011	0.01250	.	.	0.0138822411134	0.00435	0.08503521515161923	0.08437	0.257723927527	0.28330	.	.	.	0.001788	0.01205	T	-0.703643	0.00035	T	-0.781453	0.02410	T	0.00161617295656631	0.00016	T	.	.	.	0.014795837	0.00108	0.035833467	0.02910	0.014795837	0.00108	0.035833467	0.02909	-4.667	0.33693	T	.	.	0.092	0.24294	B	.;.	.;.	-0.716935	0.01282	0.068	0.7802888846739725	0.12125	0.01234	0.04361	N	AEFDBI	0.104442	0.20897	N	-1.56153533053961	0.01468	0.06408637	-1.6843486542789	0.01208	0.05439283	0.999999668571799	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.15	-9.33	0.00542	-1.842000	0.01775	.	.	-0.820000	0.02968	0.000000	0.06391	0.000000	0.08366	0.419000	0.27206	0.2838:0.0833:0.1218:0.511	2.682	0.04781	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1083.98	36	chr6	31764524	.	G	A	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.090;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=1.28;SOR=0.606	GT:AD:DP:GQ:PL	0/1:42,42:84:99:1098,0,1045	20	0	1	0
chr6	31811171	31811171	C	T	exonic	HSPA1L	.	nonsynonymous SNV	HSPA1L:NM_005527:exon2:c.G802A:p.A268T,	.	.	424	1070	25	3	0	31	0.0142791	.	.	359039	HSPA1L-related_disorder|not_provided|Inflammatory_bowel_disease_1	.|MedGen:C3661900|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.004	N	1.000	D	3.88	H	5.23	T	-1.144	T	0.022	T	0.842	4.420	23.5	5.26	2.741	7.651	16.413	0.374	.	0.0009	0.00499201	0.0050	9.885e-05	0.0034	0.0008	0.0030	0.0025	0.0066	0.0223	0.0043531	673	154602	rs34620296	0.0030	0.0030	0.0024	0.0037	0.0229	0.0030	0.0029	0.0220	0.0217	0.0002	0.0023	0.0102	0.0017	0.0027	0.0068	0.0014	0.0043	0.0229	0.0021	0.0021	0.0016	0.0027	0.0179	0.0019	0.0018	0.0148	0.0137	0.0002	0	0.0020	0.0095	0.0012	0.0022	0.0034	0.0019	0.0019	0.0179	0.0	0.91255	D	0.024	0.56640	D	1.0	0.90584	D	0.999	0.92359	D	0.003848	0.34414	N	0.000000	1	0.81001	D	3.655	0.94224	H	5.23	0.01143	T	-3.23	0.65056	D	0.908	0.90932	-1.1440	0.01216	T	0.022	0.09421	T	10	0.01235792	0.00266	T	.	.	.	0.374	0.69273	.	.	0.800990742503	0.79913	0.18448163884564248	0.18367	0.931726599292	0.71849	0.806905388832	0.83017	D	0.089201	0.38321	T	-0.152284	0.27956	T	0.0267313	0.72066	D	0.104186402596955	0.12810	T	.	.	.	0.38018766	0.59330	0.43678823	0.67120	0.38018766	0.59330	0.43678823	0.67120	-11.706	0.83390	D	.	.	0.300	0.52977	B	.	.	4.421142	0.68481	25.2	0.99909526490545897	0.97949	0.99425	0.95866	D	AEFDBI	0.931632	0.92074	D	0.970275376962282	0.94755	13.01294	0.870157219432763	0.94135	12.531	0.99999999999948	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.26	5.26	0.73479	7.905000	0.86479	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.716000	0.34643	0.0:1.0:0.0:0.0	16.413	0.83562	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3135.98	138	chr6	31811171	.	C	T	3135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.127e+00;DP=2612;ExcessHet=0.0000;FS=6.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=-8.530e-01;QD=14.39;ReadPosRankSum=1.70;SOR=0.629	GT:AD:DP:GQ:PL	0/1:93,125:218:99:3150,0,2441	20	0	1	0
chr6	31996969	31996969	C	A	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon29:c.C3817A:p.L1273M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.145	M	1.02	T	-0.791	T	0.167	T	0.354	2.539	14.45	3.27	1.829	0.974	10.203	0.232	0.0424103287447	.	0.000399361	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs573614770	0.0002	0.0001	8.844e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	0	0	0	0	0	0.0004	7.914e-06	0.0001	0.0021	6.154e-05	6.373e-05	7.646e-05	4.426e-05	0.0012	1.632e-05	8.52e-06	0.0002	8.597e-05	0	0	0	0	0.0004	0	0	0	0	0.0012	0.006	0.61437	D	0.014	0.62352	D	1.0	0.90584	D	0.998	0.88582	D	0.000162	0.48594	D	0.084749	0.998878	0.45601	D	2.555	0.74557	M	1.02	0.40749	T	-1.27	0.32791	N	0.34	0.46649	-0.7915	0.55642	T	0.167	0.50583	T	10	0.20531023	0.36753	T	0.04241	0.60446	D	0.232	0.53354	0.67	0.80803	0.154104182512	0.14974	0.49429470173495477	0.49350	.	.	.	.	.	0.019648	0.15616	T	-0.124902	0.32326	T	-0.417189	0.31398	T	0.154500084375549	0.17456	T	0.781022	0.41604	T	0.3783549	0.59197	0.23381013	0.48580	0.3783549	0.59198	0.23381013	0.48579	-6.081	0.46952	T	.	.	0.221	0.47762	B	.;.	.;.	3.407931	0.47264	22.4	0.99561798836066884	0.71831	0.59049	0.30808	D	AEFGI	0.370444	0.45681	N	0.324228720039087	0.57394	3.90661	0.188736686424722	0.49229	3.128633	0.138114833673542	0.17221	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.27	3.27	0.36580	0.453000	0.21523	.	.	0.306000	0.19039	0.931000	0.32310	1.000000	0.68203	0.595000	0.31264	0.0:1.0:0.0:0.0	10.203	0.42270	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	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	0.02632	72.93	2	chr6	31996969	.	C	A	72.93	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.744e+00;DP=233;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0907;MLEAC=1;MLEAF=0.026;MQ=37.68;MQRankSum=-3.330e-01;QD=6.63;ReadPosRankSum=-1.602e+00;SOR=0.180	GT:AD:DP:GQ:PL	0/1:8,3:11:85:85,0,288	18	0	1	2
chr6	32029706	32029706	C	A	exonic	C4B;C4B_2	.	nonsynonymous SNV	C4B:NM_001002029:exon29:c.C3817A:p.L1273M	.	.	2	1518	2	0	0	2	0.000658328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	N	2.335	M	1.02	T	-1.016	T	0.122	T	0.274	1.104	9.505	1.83	0.464	1.117	4.411	0.161	0.0112061428167	.	0.000599042	0.0005	0	8.752e-05	0	0	1.597e-05	0.0035	0.0035	0.0001537	4	26028	rs534416443	5.756e-05	0.0002	3.817e-05	7.715e-05	0.0009	4.751e-05	4.373e-05	0.0007	0.0007	0	0	0	0	0	0	2.698e-06	6.631e-05	0.0009	3.941e-05	9.843e-05	0	8.061e-05	0.0010	1.715e-05	1.129e-05	0.0004	0.0003	2.405e-05	0	0	0	0	0	0	0	0	0.0010	0.005	0.63226	D	0.012	0.63918	D	1.0	0.90584	D	0.998	0.88582	D	0.000162	0.48594	D	0.084749	0.999994	0.08975	N	2.495	0.72670	M	1.02	0.40749	T	-1.33	0.33197	N	0.332	0.49692	-1.0159	0.25045	T	0.122	0.42441	T	10	0.024377257	0.00669	T	0.011206	0.28600	T	0.161	0.41658	.	.	0.112648838833	0.10856	0.6027401659459228	0.60205	.	.	.	.	.	0.022551	0.17365	T	-0.445877	0.01194	T	-0.463689	0.26198	T	0.174248690183449	0.18865	T	.	.	.	0.2885071	0.51853	0.15593614	0.36530	0.2885071	0.51853	0.15593614	0.36529	-6.042	0.46629	T	.	.	0.188	0.44617	B	.;.	.;.	3.437544	0.47809	22.5	0.98707852280728892	0.45011	0.48836	0.28297	N	AEFGI	0.657479	0.62909	D	-0.0723915388053536	0.38606	2.263731	-0.267673768771294	0.29171	1.632151	5.83762833345414E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.76	1.83	0.24279	1.275000	0.32748	.	.	-0.186000	0.09761	0.770000	0.29357	1.000000	0.68203	0.152000	0.20376	0.0:0.6091:0.1867:0.2042	4.411	0.10861	923	0.18507	Alpha-macroglobulin complement component;Alpha-macroglobulin complement component	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1237.98	150	chr6	32029706	.	C	A	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.701e+00;DP=2124;ExcessHet=0.0000;FS=2.239;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.27;MQRankSum=-7.520e-01;QD=2.92;ReadPosRankSum=0.379;SOR=0.932	GT:AD:DP:GQ:PL	0/1:335,89:424:99:1252,0,8195	20	0	1	0
chr6	32096097	32096097	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon3:c.G1756A:p.G586S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2414175	Vesicoureteral_reflux_8	MONDO:MONDO:0014422,MedGen:C4014831,OMIM:615963,Orphanet:289365	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.58	T	0.601	P	0.086	B	0.438	N	0.966	N	-1.22	N	3.92	T	-0.970	T	0.001	T	0.163	-0.173	3.156	-1.62	-1.067	-0.690	11.358	0.073	0.00510465906866	.	.	0.0002	0	0	0	0	0	0	0.0010	8.41e-05	13	154602	rs563266055	5.559e-05	5.541e-05	3.003e-05	8.144e-05	0.0009	4.558e-05	4.169e-05	0.0007	0.0007	0	0	0	0	0	0	2.701e-06	6.642e-05	0.0009	3.281e-05	3.28e-05	1.284e-05	5.368e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.685	0.04366	T	0.139	0.33666	T	.	.	.	.	.	.	0.438134	0.12662	N	0.678460	0.999996	0.08975	N	.	.	.	3.92	0.03462	T	-0.93	0.38345	N	0.076	0.05037	-0.9698	0.37242	T	0.001	0.00348	T	10	0.011282504	0.00247	T	0.005105	0.12939	T	0.073	0.21317	0.221	0.14371	0.151262610727	0.14761	.	.	.	.	0.370251119137	0.20868	T	0.120285	0.44242	T	-0.590093	0.00167	T	-0.700931	0.05775	T	0.0389853943219919	0.03507	T	0.653735	0.26383	T	0.021734936	0.00792	0.057989962	0.10639	0.021734936	0.00792	0.057989962	0.10639	-4.156	0.26112	T	0.12320370381539755	0.11907	0.051	0.00780	B	.;.;.;.;.	.;.;.;.;.	-0.081236	0.03754	0.781	0.85497595066450638	0.15929	0.03355	0.08444	N	AEFDBI	0.077627	0.15643	N	-1.71057197920791	0.00805	0.03478754	-1.72286740697513	0.01040	0.04666146	0.99996018897327	0.48965	0.764865	0.99124	0	0.628146	0.54582	0	0.731555	0.93304	0	0.562822	0.20929	0	.	.	4.23	-1.62	0.07926	-1.710000	0.01988	.	.	-1.164000	0.01408	0.000000	0.06391	0.000000	0.08366	0.099000	0.18236	0.0:0.6025:0.0:0.3975	11.358	0.48867	906	0.23090	EGF-like domain;.;EGF-like domain;EGF-like domain;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3602.98	70	chr6	32096097	.	C	T	3602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=1173;ExcessHet=0.0000;FS=2.493;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-3.390e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:151,148:299:99:3617,0,3500	20	0	1	0
chr6	32223891	32223893	AGC	-	exonic	NOTCH4	.	nonframeshift deletion	NOTCH4:NM_004557:exon1:c.36_38del:p.L16del,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/2:21,0,12,0,0:33:99:442,505,1387,0,882,845,505,1387,882,1387,505,1387,882,1387,1387	0	1	4	0
chr6	32223893	32223893	-	AGCAGCAGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCTGCTGCT:p.L16_C17insLLL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/2:21,0,12,0,0:33:99:442,505,1387,0,882,845,505,1387,882,1387,505,1387,882,1387,1387	0	1	4	0
chr6	32223893	32223893	-	AGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCT:p.L16_C17insL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/2:21,0,12,0,0:33:99:442,505,1387,0,882,845,505,1387,882,1387,505,1387,882,1387,1387	0	1	4	0
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	31947.07	20	chr6	32521977	.	TG	T,CG,*,TCCG	31947.07	.	AC=10,5,5,2;AF=0.238,0.119,0.119,0.048;AN=42;BaseQRankSum=2.83;DP=2813;ExcessHet=0.0007;FS=6.870;InbreedingCoeff=0.6182;MLEAC=10,5,5,2;MLEAF=0.238,0.119,0.119,0.048;MQ=49.85;MQRankSum=-1.379e+00;QD=24.07;ReadPosRankSum=-3.581e+00;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	3|3:0,0,0,113,0:113:99:1|1:32521972_G_C:4890,4890,4890,4890,4890,4890,340,340,340,0,4890,4890,4890,340,4890:32521972	8	2	3	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	3841.37	20	chr6	32521978	.	GT	G,*	3841.37	.	AC=4,17;AF=0.100,0.425;AN=40;BaseQRankSum=4.25;DP=2847;ExcessHet=0.7352;FS=10.579;InbreedingCoeff=0.1102;MLEAC=4,18;MLEAF=0.100,0.450;MQ=55.69;MQRankSum=-5.960e+00;QD=2.22;ReadPosRankSum=-4.343e+00;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,113:113:99:1|1:32521972_G_C:4890,4890,4890,340,340,0:32521972	5	0	4	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	29160.55	20	chr6	32521981	.	T	TGC,C,*	29160.55	.	AC=15,3,4;AF=0.375,0.075,0.100;AN=40;BaseQRankSum=0.770;DP=2811;ExcessHet=1.5433;FS=18.058;InbreedingCoeff=0.0082;MLEAC=16,3,4;MLEAF=0.400,0.075,0.100;MQ=49.06;MQRankSum=-4.980e-01;QD=15.25;ReadPosRankSum=-1.678e+00;SOR=1.050	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,109,0,0:109:99:1|1:32521972_G_C:4775,328,0,4775,328,4775,4775,328,4775,4775:32521972	4	5	4	1
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14818.53	115	chr6	32530183	.	CTT	*,C	14818.53	.	AC=5,17;AF=0.119,0.405;AN=42;BaseQRankSum=2.59;DP=2163;ExcessHet=0.2144;FS=6.037;InbreedingCoeff=0.1918;MLEAC=5,18;MLEAF=0.119,0.429;MQ=53.28;MQRankSum=-6.845e+00;QD=10.59;ReadPosRankSum=-2.181e+00;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,142,0:142:99:1|1:32530166_A_G:6337,427,0,6337,427,6337:32530166	6	1	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,141,0:141:99:.:.:6296,6304,6394,424,430,0,6303,6353,430,6345	0	3	1	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	53589.95	112	chr6	32530185	.	T	TGC,*,C	53589.95	.	AC=5,18,14;AF=0.119,0.429,0.333;AN=42;BaseQRankSum=0.157;DP=2296;ExcessHet=1.1607;FS=2.990;InbreedingCoeff=-0.1351;MLEAC=5,18,14;MLEAF=0.119,0.429,0.333;MQ=55.53;MQRankSum=0.00;QD=24.29;ReadPosRankSum=-2.360e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,139,0,0:139:99:.:.:6246,418,0,6257,427,6341,6258,427,6348,6390	0	1	0	0
chr6	32581836	32581836	G	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon3:c.C373T:p.Q125X,	.	.	4	1243	130	0	145	275	0.0496942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.838	N	1.000	A	.	.	.	.	.	.	.	.	.	2.918	15.72	0.396	0.242	-1.613	7.656	.	.	.	.	1.992e-05	0	0	0	0	1.758e-05	0	7.93e-05	.	.	.	rs17882084	0.0002	0.0028	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0002	0.0012	0.0003	0	7.98e-05	0	0.0002	0.0002	0.0001	8.823e-06	0.0005	0	1.815e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.838005	0.06982	N	1.073180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.674	0.68169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263211	0.79824	D	0.140308	0.79564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.079196	0.60664	24.2	0.98105513147472045	0.38310	0.05555	0.11452	N	AEFDBHCI	0.337902	0.43555	N	0.0535119855739055	0.44304	2.706928	-0.352422202738623	0.26434	1.460069	0.999291314727099	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.87	0.396	0.15532	-1.435000	0.02529	.	.	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2917:0.5886:0.1197	7.656	0.27542	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	29644.93	509	chr6	32581836	.	G	C,A	29644.93	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-1.041e+00;DP=8578;ExcessHet=0.5418;FS=1.262;InbreedingCoeff=0.0735;MLEAC=5,3;MLEAF=0.119,0.071;MQ=56.50;MQRankSum=-8.926e+00;QD=8.65;ReadPosRankSum=3.57;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,242,0:242:99:1|1:32581834_T_C:10781,728,0,10781,728,10781:32581834	14	1	3	0
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	182961.39	194	chr6	32584353	.	C	A,*	182961.39	.	AC=26,3;AF=0.650,0.075;AN=40;BaseQRankSum=2.52;DP=6556;ExcessHet=2.5338;FS=2.208;InbreedingCoeff=-0.0889;MLEAC=27,3;MLEAF=0.675,0.075;MQ=54.10;MQRankSum=-6.249e+00;QD=32.11;ReadPosRankSum=2.64;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,324,0:324:99:1|1:32584350_C_T:14498,975,0,14498,975,14498:32584350	1	9	7	1
chr6	32584354	32584354	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-2G>0	.	.	.	.	175	338	454	378	177	1387	0.641569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	154460.88	195	chr6	32584354	.	C	G,A,*	154460.88	.	AC=18,5,1;AF=0.474,0.132,0.026;AN=38;BaseQRankSum=-2.830e-01;DP=6461;ExcessHet=1.8260;FS=3.068;InbreedingCoeff=-0.0814;MLEAC=19,5,1;MLEAF=0.500,0.132,0.026;MQ=53.66;MQRankSum=4.10;QD=29.69;ReadPosRankSum=-9.790e-01;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:2,0,299,0:301:99:1|1:32584354_C_A:9110,9116,9160,854,898,0,9116,9160,898,9160:32584354	2	4	8	2
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	77795.68	157	chr6	32584370	.	G	*,A	77795.68	.	AC=12,17;AF=0.316,0.447;AN=38;BaseQRankSum=3.82;DP=5453;ExcessHet=0.1204;FS=4.284;InbreedingCoeff=0.3021;MLEAC=13,18;MLEAF=0.342,0.474;MQ=52.94;MQRankSum=-1.218e+01;QD=17.06;ReadPosRankSum=-1.291e+00;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,293:293:99:1|1:32584350_C_T:13069,13069,13069,882,882,0:32584350	2	0	3	2
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	55654.92	97	chr6	32666525	.	A	*,G	55654.92	.	AC=9,30;AF=0.214,0.714;AN=42;BaseQRankSum=-1.394e+00;DP=1812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=9,30;MLEAF=0.214,0.714;MQ=60.00;MQRankSum=0.00;QD=31.69;ReadPosRankSum=-4.920e-01;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,118:118:99:1|1:32666525_A_G:5292,5292,5292,355,355,0:32666525	1	1	0	0
chr6	33007137	33007137	C	A	exonic	HLA-DOA	.	nonsynonymous SNV	HLA-DOA:NM_002119:exon4:c.G692T:p.G231V,	.	.	408	1104	10	0	0	10	0.00450857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.754	P	0.000	D	1.000	D	3.125	M	4.34	T	-1.154	T	0.023	T	0.696	4.213	21.9	4.81	2.654	2.166	15.777	0.207	0.015832190313	0.0013	0.000199681	0.0018	0.0001	0.0015	0	0.0011	0.0026	0.0067	0.0008	0.0015912	246	154602	rs141887419	0.0013	0.0013	0.0013	0.0014	0.0040	0.0013	0.0013	0.0027	0.0023	0.0001	0.0015	0.0255	7.557e-05	0.0011	0.0040	0.0008	0.0026	0.0011	0.0014	0.0014	0.0014	0.0014	0.0020	0.0012	0.0012	0.0014	0.0012	2.405e-05	0	0.0020	0.0259	0	0.0016	0.0034	0.0010	0.0024	0.0002	0.0	0.91255	D	0.001	0.83351	D	0.986	0.61523	D	0.754	0.56161	P	0.000001	0.84330	D	0.055623	1	0.81001	D	.	.	.	4.34	0.02341	T	-5.85	0.88495	D	0.639	0.65159	-1.1539	0.00913	T	0.023	0.09968	T	10	0.008959204	0.00203	T	0.015832	0.36777	T	0.207	0.49555	.	.	0.245101548738	0.24120	0.466580494877547	0.46577	0.867106616012	0.69253	0.340403318405	0.16499	T	0.235749	0.60308	T	-0.294374	0.09201	T	-0.220252	0.52714	T	0.077117112410018	0.09614	T	.	.	.	0.43390742	0.63007	0.31397367	0.57392	0.43390742	0.63008	0.31397367	0.57391	-10.808	0.78594	D	.	.	0.163	0.35931	B	.	.	3.530082	0.49522	22.8	0.99701618943290538	0.80660	0.96381	0.68860	D	AEFDBI	0.501753	0.53446	D	0.686312535578109	0.78735	6.931957	0.625188012090597	0.76776	6.553385	0.999998229885003	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.81	4.81	0.61401	1.983000	0.40270	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.757000	0.36037	0.0:1.0:0.0:0.0	15.777	0.78003	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	0.04762	1650.11	33	chr6	33007137	.	C	A	1650.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.176e+00;DP=842;ExcessHet=0.1072;FS=4.308;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=1.51;SOR=1.085	GT:AD:DP:GQ:PL	0/1:40,34:74:99:852,0,1156	19	0	2	0
chr6	33009521	33009521	C	T	exonic	HLA-DOA	.	nonsynonymous SNV	HLA-DOA:NM_002119:exon1:c.G16A:p.G6R,	.	.	414	1093	14	1	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.002	B	0.001	B	0.935	N	0.999	N	1.01	L	4.69	T	-0.912	T	0.002	T	0.345	0.673	7.600	2.35	0.419	0.406	7.006	0.043	.	0.0006	0.00638978	0.0090	0.0011	0.0003	0.0016	0	0.0004	0.0070	0.0582	0.0055756	862	154602	rs144931749	0.0030	0.0031	0.0017	0.0044	0.0471	0.0029	0.0029	0.0459	0.0454	0.0005	6.8e-05	0.0013	0.0008	0	0.0006	9.555e-05	0.0035	0.0471	0.0017	0.0017	0.0010	0.0024	0.0426	0.0015	0.0015	0.0378	0.0360	0.0003	0	0.0001	0.0017	0.0021	0	0	0.0003	0.0009	0.0426	0.041	0.56456	D	0.064	0.44905	T	0.002	0.09854	B	0.001	0.04355	B	0.935115	0.07559	N	1.030140	1	0.21461	N	1.6	0.40776	L	4.69	0.01694	T	-0.8	0.93217	N	0.219	0.24510	-0.9123	0.46569	T	0.002	0.00707	T	10	0.0037612617	0.00070	T	.	.	.	0.043	0.11576	0.659	0.79689	0.0666544352282	0.05500	0.3871789135276259	0.38632	0.29671546601	0.32059	0.303850293159	0.10977	T	0.067931	0.33328	T	-0.55443	0.00274	T	-0.534869	0.18803	T	0.006344079817748	0.00070	T	.	.	.	0.041086163	0.05984	0.074373156	0.16262	0.041086163	0.05984	0.074373156	0.16262	-4.924	0.36004	T	.	.	0.120	0.88388	B	.;.	.;.	1.141097	0.15283	11.73	0.94765504482633789	0.25480	0.02827	0.07567	N	ALL	0.070917	0.14097	N	-0.99233210088639	0.08767	0.412317	-0.999654222981667	0.09793	0.4893182	0.999999963873739	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.526665	0.08891	0	.	.	5.05	2.35	0.28166	0.522000	0.22617	.	.	-0.204000	0.08590	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.7218:0.0:0.2782	7.006	0.24014	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	868.98	33	chr6	33009521	.	C	T	868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.596;DP=791;ExcessHet=0.0000;FS=3.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.25;ReadPosRankSum=-2.118e+00;SOR=0.363	GT:AD:DP:GQ:PL	0/1:24,33:57:99:883,0,582	20	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.206	16.74	3.65	2.045	3.808	15.531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	524.24	53	chr6	34528878	.	G	C	524.24	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-7.030e-01;DP=1276;ExcessHet=4.7172;FS=105.745;InbreedingCoeff=-0.4484;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.745;SOR=9.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,18:71:1:.:.:1,0,866	3	0	9	9
chr6	35506127	35506127	C	T	exonic	TULP1	.	nonsynonymous SNV	TULP1:NM_001289395:exon9:c.G716A:p.R239Q	Leber congenital amaurosis 15, Autosomal recessive;Retinitis pigmentosa 14, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	302609	not_provided|Leber_congenital_amaurosis_15|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843,Orphanet:65|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.013	B	0.001	B	0.416	N	0.971	N	-0.11	N	-1.96	D	-0.969	T	0.157	T	0.129	2.477	14.24	-3.43	-0.617	0.457	13.536	0.254	0.0229268688133	0.0002	0.000199681	8.456e-05	0	0	0	0	0.0001	0.0011	0.0001	8.41e-05	13	154602	rs140460892	0.0001	0.0001	9.941e-05	0.0001	0.0003	8.918e-05	8.402e-05	0.0002	0.0002	0	4.473e-05	0	0	0	0	0.0001	3.312e-05	0.0003	5.252e-05	5.249e-05	3.855e-05	6.712e-05	0.0002	2.555e-05	1.829e-05	2.847e-05	1.858e-05	4.812e-05	0	0	0	0	0	0	7.351e-05	0	0.0002	0.302	0.14400	T	0.12	0.35970	T	0.013	0.16609	B	0.001	0.04355	B	0.415706	0.12936	N	0.744958	0.970795	0.25686	N	-0.37	0.03087	N	-1.96	0.85091	D	1.03	0.01350	N	0.219	0.25253	-0.9690	0.37407	T	0.157	0.48942	T	10	0.05836591	0.06850	T	0.022927	0.45860	T	0.254	0.56428	.	.	0.475805701494	0.47208	0.1266602462431723	0.12592	0.300119755026	0.32375	0.203590452671	0.00568	T	0.085239	0.37458	T	-0.248657	0.14262	T	-0.302806	0.44429	T	0.0927499267817379	0.11540	T	0.827517	0.49142	T	0.040534906	0.05804	0.062095013	0.12093	0.040534906	0.05803	0.062095013	0.12093	-1.423	0.01614	T	.	.	0.066	0.03515	B	.;.;.	.;.;.	0.692450	0.10613	7.314	0.97654024198744327	0.35155	0.14481	0.18426	N	AEFDBI	0.102521	0.20563	N	-0.983170629361845	0.08962	0.4222923	-0.872659361239151	0.12743	0.6573106	0.999998187848487	0.74766	0.205752	0.04085	2	0.59043	0.45803	0	0.459711	0.06710	0	0.530356	0.10902	0	.	.	4.58	-3.43	0.04507	0.345000	0.19720	-3.732000	0.02574	-0.982000	0.01892	0.989000	0.36753	0.000000	0.08366	0.899000	0.43558	0.0:0.1921:0.0:0.8079	13.536	0.61105	603	0.67726	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1845.98	39	chr6	35506127	.	C	T	1845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=852;ExcessHet=0.0000;FS=1.314;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=2.06;SOR=0.783	GT:AD:DP:GQ:PL	0/1:71,72:143:99:1860,0,1698	20	0	1	0
chr6	36963610	36963610	C	T	exonic	PI16	.	nonsynonymous SNV	PI16:NM_153370:exon5:c.C1268T:p.P423L	.	.	413	1106	3	0	0	3	0.0013544	0.5702	0.318	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.906	P	0.36	B	0.041	N	1.000	D	0.895	L	3.09	T	-0.927	T	0.010	T	0.105	2.830	15.43	2.99	1.296	1.535	11.794	0.043	.	0.0002	0.00299521	0.0010	9.771e-05	8.685e-05	0.0111	0	0.0001	0.0034	0.0006	0.0009638	149	154602	rs138721292	0.0004	0.0004	0.0004	0.0004	0.0103	0.0004	0.0004	0.0095	0.0091	0	2.238e-05	0	0.0103	3.75e-05	0.0005	8.009e-05	0.0008	0.0006	0.0006	0.0006	0.0005	0.0006	0.0121	0.0005	0.0004	0.0097	0.0089	2.406e-05	0	0.0001	0	0.0121	0	0	0.0001	0.0005	0.0014	0.002	0.72154	D	0.005	0.72224	D	0.906	0.49993	P	0.36	0.43183	B	0.040807	0.24017	N	0.303860	0.787928	0.49637	D	2.175	0.60977	M	3.09	0.08371	T	-2.44	0.53420	N	0.177	0.19055	-0.9275	0.44502	T	0.010	0.03537	T	10	0.005001247	0.00108	T	.	.	.	0.043	0.11576	.	.	0.418964662724	0.41514	0.20133547085494136	0.20050	0.590566877047	0.54513	0.302476108074	0.10770	T	0.007351	0.06762	T	-0.590282	0.00167	T	-0.612857	0.11755	T	0.0258835791315668	0.01390	T	0.755524	0.37862	T	0.09156546	0.21459	0.15305866	0.35984	0.09156546	0.21459	0.15305866	0.35983	-3.782	0.20536	T	.	.	0.106	0.19598	B	.;.;.	.;.;.	3.698821	0.52737	23.3	0.99540132966783101	0.70461	0.64546	0.32442	D	AEFDBHCI	0.178773	0.30604	N	0.0892978434807873	0.45963	2.844286	0.118094330871891	0.45476	2.809966	0.999999612094866	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.618376	0.41669	0	0.604944	0.38103	0	.	.	4.94	2.99	0.33673	1.135000	0.31067	3.413000	0.38202	0.599000	0.40250	0.799000	0.29708	1.000000	0.68203	0.920000	0.45560	0.3278:0.6722:0.0:0.0	11.794	0.51359	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2009.98	44	chr6	36963610	.	C	T	2009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.960e-01;DP=1241;ExcessHet=0.0000;FS=1.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.411;SOR=0.869	GT:AD:DP:GQ:PL	0/1:89,83:172:99:2024,0,2234	20	0	1	0
chr6	37483209	37483209	C	T	exonic	CCDC167	.	nonsynonymous SNV	CCDC167:NM_138493:exon4:c.G271A:p.V91I,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	.	.	.	.	-0.982	T	0.011	T	0.043	-0.712	0.932	-9.26	-1.732	-1.958	11.473	0.027	0.00608996634474	7.7e-05	.	2.472e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs138745679	1.847e-05	1.847e-05	1.634e-05	2.063e-05	0.0001	1.265e-05	1.084e-05	6.246e-05	4.757e-05	0	2.236e-05	0	0	0	0	1.439e-05	0	0.0001	6.57e-06	6.567e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.37	0.03639	N	0.009	0.00081	-0.9822	0.34491	T	0.011	0.04321	T	7	0.020050764	0.00456	T	0.00609	0.15934	T	0.027	0.05988	.	.	0.0138822411134	0.00435	0.19079195373879868	0.18997	0.0956654505413	0.10807	0.296734243631	0.09916	T	0.02	0.15827	T	-0.517236	0.00456	T	-0.778096	0.02512	T	0.0253366616578972	0.01317	T	0.530047	0.17581	T	0.009479241	0.00003	0.028064914	0.01010	0.009479241	0.00003	0.028064914	0.01009	-3.325	0.14061	T	.	.	0.061	0.01179	B	.	.	-1.374018	0.00379	0.007	0.82001377325692337	0.13968	0.02482	0.06953	N	AEFDGBHCI	0.046946	0.07852	N	-1.55746732852339	0.01491	0.0651102	-1.65288684277199	0.01361	0.06145989	0.999999926128239	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.25	-9.26	0.00563	-1.859000	0.01749	-2.963000	0.03187	-0.842000	0.02783	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.0:0.5509:0.1038:0.3454	11.473	0.49529	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1381.98	38	chr6	37483209	.	C	T	1381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.570e-01;DP=959;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=-1.760e-01;SOR=0.683	GT:AD:DP:GQ:PL	0/1:63,58:121:99:1396,0,1512	20	0	1	0
chr6	39879350	39879350	C	T	exonic	DAAM2	.	nonsynonymous SNV	DAAM2:NM_001201427:exon14:c.C1718T:p.P573L	.	.	409	1096	16	1	0	18	0.0081448	.	.	699578	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.015	B	0.016	B	0.000	D	1.000	D	0	N	0.86	T	-1.087	T	0.035	T	0.747	2.218	13.37	4.63	2.383	5.773	10.864	0.272	.	.	0.00459265	0.0034	0.0006	0.0019	0.0106	0	0.0001	0.0059	0.0182	0.0028978	448	154602	rs199956358	0.0015	0.0015	0.0011	0.0019	0.0168	0.0014	0.0014	0.0161	0.0158	0.0002	0.0011	3.847e-05	0.0071	0	0.0023	7.294e-05	0.0045	0.0168	0.0012	0.0012	0.0008	0.0015	0.0158	0.0010	0.0010	0.0129	0.0119	0.0007	0	0.0005	0	0.0118	0	0	5.881e-05	0.0005	0.0158	0.005	0.63226	D	0.003	0.79402	D	0.009	0.15093	B	0.007	0.12992	B	0.000459	0.44317	D	0.194831	1	0.81001	D	0.975	0.24501	L	0.86	0.46777	T	-4.21	0.75776	D	0.582	0.68516	-1.0873	0.05995	T	0.035	0.15247	T	10	0.008737445	0.00198	T	.	.	.	0.272	0.58758	.	.	0.707499504505	0.70495	0.29680205181803404	0.29593	0.172399373927	0.19416	0.639637470245	0.58512	T	0.118516	0.59213	T	-0.275222	0.11180	T	-0.152518	0.59019	T	0.0833992851514409	0.10417	T	0.794521	0.43681	T	0.17288756	0.38005	0.18540746	0.41651	0.17288756	0.38005	0.18540746	0.41651	-6.662	0.51523	T	.	.	0.104	0.18787	B	.;.;.;.	.;.;.;.	4.177147	0.62853	24.5	0.99677472132365275	0.79043	0.98119	0.79760	D	AEFDBI	0.803731	0.72879	D	-0.247381216631754	0.31208	1.747624	-0.0847487457528862	0.36019	2.090972	0.99999999989969	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.63	4.63	0.57175	7.792000	0.84405	7.533000	0.59948	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0:0.9126:0.0:0.0874	10.864	0.46054	665	0.61472	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1184.98	36	chr6	39879350	.	C	T	1184.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.801;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-5.300e-02;SOR=0.614	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1199,0,1134	20	0	1	0
chr6	41597932	41597932	T	C	exonic	FOXP4	.	nonsynonymous SNV	FOXP4:NM_001012426:exon16:c.T1877C:p.L626P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.998	D	0.993	D	0.000	D	1.000	D	1.735	L	-2.69	D	0.415	D	0.722	D	0.653	1.762	11.85	3.69	1.677	4.222	12.481	0.608	0.759758119259	.	0.00139776	0.0004	0	0	0	0	0	0	0.0021	0.0001682	26	154602	rs548646802	6.349e-05	6.772e-05	2.824e-05	9.948e-05	0.0010	5.243e-05	4.871e-05	0.0008	0.0008	3.099e-05	0	0	0	0	0	0	0.0001	0.0010	5.3e-05	5.264e-05	6.472e-05	4.071e-05	0.0017	2.576e-05	1.844e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.059	0.37536	T	0.215	0.26386	T	0.997	0.70673	D	0.921	0.65636	D	0.000005	0.62929	D	0.000000	1	0.81001	D	2.045	0.56016	M	-2.69	0.90566	D	-1.38	0.38345	N	0.395	0.49328	0.415	0.89323	D	0.722	0.90478	D	10	0.027106613	0.00863	T	0.759758	0.98092	D	0.608	0.84613	0.245	0.17984	0.684598654009	0.68190	0.8185377706287136	0.81810	0.0228467483956	0.02315	0.767651438713	0.77073	T	0.195483	0.55157	T	-0.113259	0.34232	T	0.0344555	0.72567	D	0.174679048680011	0.18893	T	0.853715	0.60567	D	0.5383835	0.69306	0.3085183	0.56869	0.5383835	0.69307	0.3085183	0.56869	-2.593	0.06526	T	.	.	0.104	0.20078	B	.;.;.;.;.	.;.;.;.;.	4.580093	0.72349	25.8	0.99430659693533385	0.64227	0.93862	0.59406	D	AEFDBCI	0.821588	0.74211	D	0.291042019058073	0.55694	3.733444	0.187759321409972	0.49175	3.123944	0.999999900198705	0.74766	0.741868	0.97996	0	0.643519	0.57511	0	0.774882	0.98623	0	0.683762	0.67416	0	.	.	3.69	3.69	0.41483	3.542000	0.53380	4.951000	0.46281	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.158000	0.20581	0.0:0.0:0.0:1.0	12.481	0.55184	923	0.18507	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	242.99	14	chr6	41597932	.	T	C	242.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.102e+00;DP=472;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0254;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-8.670e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:12,12:24:99:257,0,295	20	0	1	0
chr6	43512208	43512208	C	T	exonic	YIPF3	.	nonsynonymous SNV	YIPF3:NM_015388:exon9:c.G1012A:p.A338T,	.	.	.	.	.	.	.	.	.	.	.	2444156	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.007	B	0.003	B	0.002	N	1.000	D	0.46	N	0.72	T	-1.081	T	0.027	T	0.305	1.101	9.491	1.71	0.338	0.636	3.618	0.034	0.00835293890219	.	.	8.25e-05	9.614e-05	8.637e-05	0	0.0002	6.003e-05	0	0.0002	6.47e-05	10	154602	rs764341744	2.257e-05	2.257e-05	1.361e-05	3.163e-05	8.945e-05	1.61e-05	1.416e-05	2.985e-05	1.804e-05	0	8.945e-05	0	0	0.0001	0	1.169e-05	6.623e-05	4.637e-05	2.629e-05	2.627e-05	2.57e-05	2.692e-05	2.415e-05	8.14e-06	5.14e-06	.	.	2.415e-05	0	0	0	0	9.434e-05	0	0	0.0010	0	0.108	0.31235	T	0.219	0.26145	T	0.002	0.09854	B	0.002	0.06944	B	0.002361	0.36727	N	0.325533	0.971206	0.40015	D	0.83	0.20963	L	0.72	0.51228	T	0.01	0.06868	N	0.102	0.08506	-1.0815	0.07060	T	0.027	0.11707	T	10	0.060381323	0.07406	T	0.008353	0.22105	T	0.034	0.08419	0.217	0.13788	0.0675242888579	0.06100	0.38640634472319985	0.38555	0.196582013559	0.22022	0.309553444386	0.11839	T	0.031402	0.22025	T	-0.28905	0.09731	T	-0.450323	0.27661	T	0.0259100020439622	0.01394	T	0.70183	0.31167	T	0.035081	0.04062	0.049902227	0.07721	0.035081	0.04062	0.049902227	0.07720	-4.587	0.32008	T	.	.	0.065	0.02702	B	.;.	.;.	1.053710	0.14351	10.93	0.97344410195751518	0.33491	0.22974	0.21924	N	AEFBCI	0.118232	0.23128	N	-0.743387112023824	0.14815	0.7411395	-0.673647452440449	0.17621	0.9377921	0.999741245429668	0.42466	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.65	1.71	0.23429	0.696000	0.25220	0.802000	0.21668	-0.171000	0.11205	0.408000	0.26234	0.247000	0.23892	0.403000	0.26849	0.1667:0.4735:0.0:0.3598	3.618	0.07627	219	0.91485	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2174.98	33	chr6	43512208	.	C	T	2174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=850;ExcessHet=0.0000;FS=1.370;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.88;ReadPosRankSum=0.882;SOR=0.562	GT:AD:DP:GQ:PL	0/1:57,80:137:99:2189,0,1342	20	0	1	0
chr6	45422775	45422783	GCGGCGGCT	-	exonic	RUNX2	.	nonframeshift deletion	RUNX2:NM_001278478:exon1:c.199_207del:p.A73_A75del	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253741091	0	6.848e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13028.27	37	chr6	45422774	.	GGCGGCGGCT	AGCGGCGGCT,G	13028.27	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-2.600e-02;DP=1348;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=17.82;ReadPosRankSum=2.23;SOR=0.665	GT:AD:DP:GQ:PL	0/1:77,94,0:171:99:2234,0,1591,2453,1872,4325	16	1	3	0
chr6	47714025	47714025	G	A	exonic	ADGRF4	.	nonsynonymous SNV	ADGRF4:NM_001347855:exon6:c.G780A:p.M260I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.003	B	0.004	B	0.348	N	1.000	N	1.04	L	1.53	T	-1.002	T	0.021	T	0.129	-0.375	2.236	2.22	0.673	0.948	4.387	0.003	0.00424529291119	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1373456842	8.239e-06	8.209e-06	6.827e-06	9.667e-06	7.056e-05	4.39e-06	3.47e-06	3.031e-05	2.061e-05	0	0	0	0	1.875e-05	0	3.604e-06	1.663e-05	7.056e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.37326	T	0.313	0.19539	T	0.003	0.11197	B	0.004	0.10090	B	0.347773	0.13863	N	0.723565	1	0.08975	N	.	.	.	1.53	0.35590	T	-2.35	0.51968	N	0.127	0.14196	-1.0022	0.29284	T	0.021	0.09056	T	10	0.049947232	0.04656	T	0.004245	0.10247	T	0.003	0.00094	0.37	0.38013	0.18995819373	0.18626	0.32038156066197143	0.31951	0.036658892525	0.03882	0.236790627241	0.02508	T	0.021242	0.16575	T	-0.344922	0.05054	T	-0.63029	0.10392	T	0.0385890816641491	0.03437	T	0.524848	0.17228	T	0.10071709	0.23784	0.13489667	0.32312	0.10071709	0.23783	0.13489667	0.32311	-1.31	0.01417	T	.	.	0.247	0.48198	B	.;.;.	.;.;.	0.457557	0.08275	5.018	0.55332093559321238	0.05320	0.09536	0.15270	N	AEFBI	0.049526	0.08566	N	-0.99200017442123	0.08774	0.4126748	-0.988498023457462	0.10043	0.5033705	0.0148827426643692	0.12650	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	2.22	0.27116	0.544000	0.22960	1.359000	0.25866	-0.119000	0.14319	0.004000	0.16614	0.006000	0.19429	0.052000	0.15357	0.2518:0.0:0.591:0.1573	4.387	0.10753	732	0.54084	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2372.98	67	chr6	47714025	.	G	A	2372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.538e+00;DP=1674;ExcessHet=0.0000;FS=0.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-2.560e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:98,90:188:99:2387,0,2696	20	0	1	0
chr6	52794147	52794147	C	T	exonic	GSTA1	.	nonsynonymous SNV	GSTA1:NM_001319059:exon4:c.G113A:p.R38H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.798	P	0.215	B	0.000	N	1.000	N	2.775	M	4.41	T	-0.940	T	0.004	T	0.367	1.374	10.52	0.665	-0.177	1.544	7.011	0.127	0.00218176482919	7.7e-05	.	2.471e-05	0	0.0002	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs374431368	4.994e-05	5.062e-05	4.084e-05	5.914e-05	0.0009	4.059e-05	3.734e-05	0.0003	0.0002	5.975e-05	0.0004	0	2.52e-05	0	0.0009	2.968e-05	6.623e-05	0.0001	1.315e-05	1.314e-05	0	2.692e-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	0.084	0.32929	T	0.145	0.33000	T	0.798	0.44840	P	0.215	0.37512	B	0.000008	0.62929	N	0.064364	1	0.08975	N	2.745	0.80253	M	4.41	0.02196	T	-3.24	0.65171	D	0.369	0.41063	-0.9395	0.42695	T	0.004	0.01365	T	10	0.26203787	0.43669	T	0.002182	0.04098	T	0.127	0.34888	.	.	0.134241683229	0.13084	0.12809250268252867	0.12734	0.0085568136033	0.00777	0.326749950647	0.14443	T	0.122438	0.44610	T	-0.38085	0.03078	T	-0.487282	0.23675	T	0.640982449054718	0.38078	D	0.893711	0.63166	D	0.25984466	0.49039	0.15910327	0.37123	0.25984466	0.49038	0.15910327	0.37122	-8.645	0.65385	D	.	.	0.280	0.51350	B	.	.	2.995635	0.40013	21.1	0.95081207513442323	0.26134	0.05366	0.11227	N	AEFI	0.270827	0.38682	N	-0.553500963849444	0.20375	1.073563	-0.79066367934846	0.14723	0.7708316	2.15372980916859E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.58	0.665	0.17066	2.246000	0.42794	-3.197000	0.02979	0.429000	0.20894	0.037000	0.20830	0.000000	0.08366	0.024000	0.12247	0.0:0.7509:0.0:0.2491	7.011	0.24040	900	0.24599	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2837.98	33	chr6	52794147	.	C	T	2837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.018e+00;DP=951;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-1.209e+00;SOR=0.703	GT:AD:DP:GQ:PL	0/1:120,123:243:99:2852,0,2850	20	0	1	0
chr6	55874486	55874486	A	T	exonic	BMP5	.	nonsynonymous SNV	BMP5:NM_001329754:exon1:c.T380A:p.I127K	.	.	424	1049	48	1	0	50	0.0232775	.	.	3217204	BMP5-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.31	T	0.004	B	0.011	B	0.017	N	1.000	N	0.55	N	-0.17	T	-1.032	T	0.078	T	0.433	0.767	8.055	3.61	0.522	5.749	8.575	0.213	.	0.0044	0.00658946	0.0060	0.0012	0.0044	0	0.0017	0.0064	0.0111	0.0130	0.0057114	883	154602	rs148766592	0.0061	0.0061	0.0058	0.0064	0.0134	0.0060	0.0060	0.0128	0.0125	0.0008	0.0033	0.0007	5.04e-05	0.0016	0.0111	0.0064	0.0052	0.0134	0.0043	0.0043	0.0045	0.0041	0.0125	0.0041	0.0039	0.0099	0.0090	0.0011	0	0.0022	0.0006	0.0002	0.0011	0.0102	0.0072	0.0047	0.0125	0.312	0.13925	T	0.279	0.21745	T	0.0	0.02946	B	0.001	0.04355	B	0.016900	0.27861	N	0.409080	0.999942	0.19238	N	0	0.06538	N	-0.55	0.71068	T	-0.32	0.12283	N	0.306	0.34552	-1.0321	0.19777	T	0.078	0.31103	T	10	0.005883813	0.00132	T	.	.	.	0.213	0.50496	.	.	0.673091222706	0.67032	0.38443853275356543	0.38358	0.364414730211	0.38057	0.486332833767	0.36930	T	0.27718	0.64979	T	-0.372903	0.03450	T	-0.297394	0.44999	T	0.0186218125012243	0.00576	T	0.737926	0.35508	T	0.12036941	0.28325	0.18262362	0.41201	0.12036941	0.28325	0.18262362	0.41200	-2.995	0.10127	T	.	.	0.142	0.31203	B	.	.	2.070988	0.26338	17.08	0.86946015747244509	0.16882	0.80071	0.39809	D	AEFGBI	0.406686	0.47907	N	-0.282567121738962	0.29822	1.657207	-0.0970046483997416	0.35514	2.055537	0.999992548734019	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	3.61	0.40494	5.786000	0.68654	8.107000	0.76578	0.756000	0.94297	1.000000	0.71638	0.982000	0.30508	0.830000	0.39126	0.8006:0.0:0.1994:0.0	8.575	0.32753	824	0.40336	TGF-beta, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2120.98	33	chr6	55874486	.	A	T	2120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=838;ExcessHet=0.0000;FS=0.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=-3.440e-01;SOR=0.819	GT:AD:DP:GQ:PL	0/1:57,79:136:99:2135,0,1381	20	0	1	0
chr6	56607148	56607148	C	T	exonic	DST	.	nonsynonymous SNV	DST:NM_001374729:exon36:c.G6847A:p.A2283T	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.037	B	0.027	B	0.330	N	0.934	N	.	.	0.73	T	-0.959	T	0.186	T	0.234	3.658	18.60	3.67	1.411	0.749	4.694	0.042	0.020983214437	.	.	4.181e-05	0.0001	0	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs754092357	3.285e-05	3.283e-05	2.451e-05	4.128e-05	0.0004	2.544e-05	2.25e-05	0.0003	0.0002	5.979e-05	0	0	0	0	0.0003	7.197e-06	8.286e-05	0.0004	1.315e-05	1.314e-05	1.286e-05	1.346e-05	0.0002	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	0	0	0.0002	0.035	0.55530	D	0.471	0.12211	T	0.037	0.20876	B	0.027	0.21085	B	0.330117	0.14128	N	0.628350	.	.	.	.	.	.	-0.2	0.70249	T	-0.2	0.11547	N	0.341	0.38232	-0.9589	0.39386	T	0.186	0.53511	T	8	0.050323308	0.04748	T	0.020983	0.43675	T	0.042	0.11227	.	.	0.428715581845	0.42488	.	.	.	.	.	.	.	0.008051	0.07409	T	-0.319035	0.06977	T	-0.38553	0.35075	T	0.0159764995474288	0.00379	T	0.839616	0.51993	T	.	.	.	.	.	.	.	.	-2.839	0.08548	T	.	.	.	.	.	.;.	.;.	2.338175	0.29965	18.29	0.99836635616670577	0.91800	0.17563	0.19891	N	AEFDGBCI	0.038186	0.05368	N	-0.431153743672161	0.24384	1.316215	-0.346250980128472	0.26625	1.471883	0.995240174267425	0.34024	0.634777	0.41761	0	0.601575	0.49859	0	0.486962	0.07600	0	0.645665	0.59343	0	.	.	5.7	3.67	0.41236	0.484000	0.22017	3.327000	0.37595	0.599000	0.40250	0.000000	0.06391	0.999000	0.35428	0.931000	0.46843	0.0:0.6466:0.0:0.3534	4.694	0.12177	251	0.90153	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1612.98	116	chr6	56607148	.	C	T	1612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.720e+00;DP=1888;ExcessHet=0.0000;FS=0.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=0.050;SOR=0.815	GT:AD:DP:GQ:PL	0/1:72,61:133:99:1627,0,2099	20	0	1	0
chr6	65302547	65302547	-	T	exonic	LOC441155	.	frameshift insertion	LOC441155:NM_001271675:exon2:c.27dupT:p.Y13Lfs*8,	.	.	464	1057	1	0	0	1	0.000472813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0032	0.0076	0.0104	0	0	0.0012	0	0.0110	0.0001537	4	26028	rs541700729	0.0017	0.0061	0.0018	0.0015	0.0022	0.0016	0.0016	0.0021	0.0020	0.0012	0.0009	0.0006	0.0002	0.0001	0.0015	0.0022	0.0010	0.0010	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	9.384e-05	0.0002	0.0002	0.0004	0	6.695e-05	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	491.94	43	chr6	65302547	.	A	AT	491.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.558;DP=794;ExcessHet=0.0000;FS=24.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=28.61;MQRankSum=2.05;QD=8.20;ReadPosRankSum=-1.019e+00;SOR=0.025	GT:AD:DP:GQ:PL	0/1:36,24:60:99:506,0,851	20	0	1	0
chr6	73363170	73363170	A	T	exonic	KHDC3L	.	nonsynonymous SNV	KHDC3L:NM_001017361:exon2:c.A245T:p.N82I,	Hydatidiform mole, recurrent, 2, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.037	B	0.044	B	0.302	N	1.000	N	0	N	2.97	T	-0.920	T	0.005	T	0.232	0.926	8.771	-3.29	-0.683	0.488	5.151	0.027	0.00321673620981	.	0.000998403	0.0008	0	0	0.0080	0	8.994e-05	0.0011	0.0010	0.0006339	98	154602	rs199912037	0.0004	0.0004	0.0004	0.0005	0.0090	0.0004	0.0004	0.0082	0.0079	0	0	0.0001	0.0090	3.744e-05	0.0003	0.0001	0.0003	0.0013	0.0003	0.0003	0.0002	0.0004	0.0045	0.0002	0.0002	0.0030	0.0026	0	0	0	0	0.0045	9.418e-05	0	0.0001	0.0009	0.0015	0.089	0.32141	T	0.008	0.67890	D	0.037	0.20876	B	0.044	0.24394	B	0.302130	0.03961	N	1.529920	1	0.08975	N	0	0.06538	N	2.97	0.09450	T	-3.17	0.64363	D	0.358	0.39962	-0.9200	0.45554	T	0.005	0.01615	T	10	0.006955594	0.00158	T	0.003217	0.07087	T	0.027	0.05988	.	.	0.0401082797425	0.02173	0.14732868234087645	0.14654	0.686794028943	0.60348	0.38042652607	0.22317	T	0.032168	0.22369	T	-0.625182	0.00102	T	-0.667081	0.07796	T	0.0128637311089323	0.00220	T	0.548745	0.18852	T	0.21735929	0.44217	0.11693888	0.28230	0.21735929	0.44217	0.11693888	0.28229	-7.348	0.56536	T	.	.	0.226	0.45786	B	.	.	1.175619	0.15656	12.01	0.73791297199848116	0.10457	0.00979	0.03733	N	AEFDBI	0.028201	0.02440	N	-1.50089090968126	0.01844	0.08088489	-1.55814307893935	0.01920	0.08760866	5.24975606994639E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.52	-3.29	0.04706	0.478000	0.21922	1.264000	0.25249	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.3744:0.1841:0.4415:0.0	5.151	0.14338	840	0.37365	KH-like RNA-binding domain|KH-like RNA-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	0.02381	1655.98	35	chr6	73363170	.	A	T	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.800e-01;DP=825;ExcessHet=0.0000;FS=0.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-3.590e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/1:53,69:122:99:1670,0,1239	20	0	1	0
chr6	75950798	75950798	G	T	exonic	IMPG1	.	nonsynonymous SNV	IMPG1:NM_001282368:exon12:c.C1354A:p.P452T	Macular dystrophy, vitelliform, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1027478	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.43	T	0.008	B	0.006	B	0.275	N	1.000	N	0	N	2.17	T	-0.974	T	0.007	T	0.075	-0.037	3.825	-1.21	0.015	-0.411	0.977	0.004	0.00432773065192	7.7e-05	0.000798722	0.0003	0	8.747e-05	0	0	3.002e-05	0	0.0018	0.0002458	38	154602	rs201155813	0.0001	0.0001	6.944e-05	0.0002	0.0014	0.0001	9.702e-05	0.0012	0.0011	0	0.0003	0	5.039e-05	0	0.0003	2.159e-05	0.0002	0.0014	0.0002	0.0002	7.708e-05	0.0002	0.0010	0.0001	8.711e-05	0.0006	0.0005	0	0	0.0010	0	0	0	0	4.409e-05	0	0.0010	0.562	0.06341	T	0.668	0.06345	T	0.008	0.14655	B	0.006	0.12133	B	0.275278	0.03797	N	1.521790	1	0.08975	N	0	0.06538	N	2.17	0.19020	T	0.96	0.01488	N	0.037	0.02088	-0.9743	0.36279	T	0.007	0.02439	T	10	0.010022849	0.00224	T	0.004328	0.10529	T	0.004	0.00165	.	.	0.0954503805726	0.09146	0.24531679479833876	0.24445	0.0130503605161	0.01258	0.184004545212	0.00136	T	0.001181	0.00684	T	-0.673038	0.00053	T	-0.764176	0.02965	T	0.0213303844410878	0.00836	T	0.593441	0.21910	T	0.030603055	0.02753	0.042142857	0.04952	0.030603055	0.02752	0.042142857	0.04952	-3.436	0.15545	T	.	.	0.060	0.01059	B	.;.	.;.	-0.172904	0.03232	0.542	0.1578155347675802	0.00399	0.07882	0.13872	N	AEFGI	0.097977	0.19752	N	-1.34861677831507	0.03140	0.1397558	-1.34609895015877	0.03852	0.1805303	6.25440013286115E-5	0.04366	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	4.94	-1.21	0.09033	-0.067000	0.11538	0.761000	0.21315	-0.244000	0.07312	0.000000	0.06391	0.001000	0.17328	0.034000	0.13613	0.2507:0.3321:0.2552:0.162	0.977	0.01338	422	0.81333	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1217.98	33	chr6	75950798	.	G	T	1217.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.272e+00;DP=826;ExcessHet=0.0000;FS=1.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.399;SOR=0.531	GT:AD:DP:GQ:PL	0/1:63,51:114:99:1232,0,1639	20	0	1	0
chr6	79513448	79513448	A	G	exonic	LCA5	.	nonsynonymous SNV	LCA5:NM_001122769:exon3:c.T484C:p.F162L	Leber congenital amaurosis 5	.	.	.	.	.	.	.	.	.	.	832570	not_provided|Leber_congenital_amaurosis	MedGen:C3661900|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.563	N	1.000	N	0	N	-0.96	T	-1.032	T	0.051	T	0.027	0.154	4.828	-2.1	-0.398	-0.364	2.907	0.109	0.0105115952519	.	0.000199681	0.0002	0	0	0	0	0	0	0.0012	0.0001294	20	154602	rs533963525	4.584e-05	4.583e-05	3.131e-05	6.051e-05	0.0007	3.662e-05	3.347e-05	0.0005	0.0005	0	0	0	0	0	0.0002	0	0.0001	0.0007	2.628e-05	2.625e-05	1.285e-05	4.031e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.685	0.04366	T	0.528	0.10173	T	0.0	0.02946	B	0.0	0.01387	B	0.562949	0.11317	N	0.813816	1	0.08975	N	-0.895	0.01383	N	-0.96	0.75553	T	0.79	0.01893	N	0.05	0.03502	-1.0318	0.19873	T	0.051	0.21533	T	10	0.005514145	0.00122	T	0.010512	0.27131	T	0.109	0.30843	0.16	0.06396	0.210429274316	0.20668	0.0340049255685227	0.03348	0.0212929991786	0.02108	0.269859582186	0.06122	T	0.062539	0.31943	T	-0.552558	0.00282	T	-0.631242	0.10320	T	0.00388100631240873	0.00041	T	0.538146	0.18903	T	0.039397992	0.05430	0.037144493	0.03306	0.039397992	0.05430	0.037144493	0.03305	-4.932	0.36093	T	0.06161294187580992	0.01771	0.185	0.39999	B	.;.;.	.;.;.	0.933425	0.13089	9.590	0.67877824844947388	0.08487	0.03785	0.09107	N	AEFDBI	0.038681	0.05509	N	-1.3575404219276	0.03048	0.1355231	-1.26980255411904	0.04844	0.2294945	0.865348428260716	0.25307	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	6.07	-2.1	0.06809	-0.545000	0.06159	-1.181000	0.06096	-0.743000	0.03651	0.002000	0.15269	0.000000	0.08366	0.964000	0.52637	0.285:0.2119:0.3761:0.127	2.907	0.05374	553	0.71930	Lebercilin domain;Lebercilin domain;Lebercilin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2405.98	34	chr6	79513448	.	A	G	2405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=900;ExcessHet=0.0000;FS=1.139;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=1.72;SOR=0.819	GT:AD:DP:GQ:PL	0/1:98,89:187:99:2420,0,2576	20	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.939	D	1.955	M	-2.54	D	0.480	D	0.698	D	0.589	3.817	19.38	2.91	0.879	1.891	11.092	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	8626.22	29	chr6	80007990	.	G	C,A	8626.22	.	AC=9,4;AF=0.321,0.143;AN=28;BaseQRankSum=-1.515e+00;DP=1035;ExcessHet=11.8493;FS=213.695;InbreedingCoeff=-0.6471;MLEAC=11,5;MLEAF=0.393,0.179;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.474;SOR=11.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:47,0,21:68:99:0|1:80007990_G_A:321,459,2144,0,1684,1628:80007990	1	0	9	7
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,21,0,0:68:99:0|1:80007990_G_A:321,0,1628,459,1684,2144,459,1684,2144,2144:80007990	8	0	5	0
chr6	80007993	80007997	TTTTG	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.324_328del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,21,0,0:68:99:0|1:80007990_G_A:321,0,1628,459,1684,2144,459,1684,2144,2144:80007990	8	0	5	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,21,12:68:99:1|0:80007990_G_A:888,0,1421,300,926,1290:80007990	2	0	13	4
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	144.91	42	chr6	80007993	.	T	*,C	144.91	.	AC=10,2;AF=0.385,0.077;AN=26;BaseQRankSum=0.236;DP=945;ExcessHet=22.5857;FS=237.638;InbreedingCoeff=-0.4416;MLEAC=14,3;MLEAF=0.538,0.115;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.301;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,20,12:67:99:1|0:80007990_G_A:881,0,1424,293,926,1283:80007990	1	0	10	8
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,19,0,12:66:99:1|0:80007990_G_A:832,0,1429,724,1344,1954,259,929,1380,1254:80007990	1	0	7	8
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,19,0,12:66:99:1|0:80007990_G_A:832,0,1429,724,1344,1954,259,929,1380,1254:80007990	1	0	7	8
chr6	80007995	80007995	T	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.T326C:p.F109S	.	.	.	.	.	.	.	.	.	.	.	3487353	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.818	P	0.000	D	0.844	D	1.61	L	1.42	T	0.418	D	0.623	D	0.661	4.331	22.8	5.66	2.285	5.664	9.438	0.543	0.192901871488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	4.221e-05	2.681e-05	0	0.0004	0.0003	6.299e-05	5.109e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.818	0.58969	P	0.000000	0.84330	D	0.049019	0.843728	0.35108	D	2.43	0.70455	M	-2.42	0.88611	D	-3.24	0.89093	D	0.479	0.51851	0.418	0.89363	D	0.623	0.86718	D	10	0.7754053	0.77418	D	0.192902	0.86272	D	0.543	0.80960	0.667	0.80502	0.865703120749	0.86440	0.5142532410060754	0.51348	0.734343058358	0.62892	0.673589468002	0.63349	T	0.307771	0.67989	T	0.230199	0.76739	D	0.0928881	0.76438	D	0.992899179458618	0.83501	D	0.849815	0.59928	T	0.9145535	0.92723	0.74627006	0.85002	0.9145535	0.92724	0.74627006	0.85003	-11.553	0.82796	D	.	.	0.975	0.91596	P	.;.;.;.;.;.	.;.;.;.;.;.	5.252684	0.88193	29.5	0.99857276268218276	0.93639	0.93449	0.58247	D	AEFBI	0.664675	0.63376	D	0.634234699625658	0.75350	6.29074	0.657051414914333	0.79135	7.019207	0.999999781221271	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	5.426000	0.66214	5.025000	0.46778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.247:0.0:0.0:0.753	9.438	0.37819	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,19,0,12:66:99:1|0:80007990_G_A:832,0,1429,724,1344,1954,259,929,1380,1254:80007990	1	0	7	8
chr6	80007997	80007997	-	CCCCCA	exonic	TTK	.	nonframeshift insertion	TTK:NM_001166691:exon3:c.328_329insCCCCCA:p.A110_R111insPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2870.52	47	chr6	80007997	.	G	GCCCCCA	2870.52	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.779e+00;DP=993;ExcessHet=2.5830;FS=136.989;InbreedingCoeff=-0.2354;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=7.74;ReadPosRankSum=0.519;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,19:65:99:0|1:80007990_G_A:285,0,1591:80007990	12	0	7	2
chr6	81752025	81752025	-	CCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGG:p.G45_G46insDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	2/3:2,0,37,16:55:99:2084,2126,2416,565,886,963,1442,1562,0,1489	3	8	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGGCGGCGACTTCGGCGG:p.G45_G46insDFGGGDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	2/3:2,0,37,16:55:99:2084,2126,2416,565,886,963,1442,1562,0,1489	3	8	1	0
chr6	89162129	89162129	T	A	exonic	PM20D2	.	nonsynonymous SNV	PM20D2:NM_001010853:exon7:c.T1177A:p.Y393N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.707	P	0.214	B	0.000	D	1.000	D	1.385	L	1.0	T	-1.099	T	0.051	T	0.647	2.837	15.45	5.94	2.272	5.513	15.576	0.104	0.0134772612325	7.7e-05	0.000599042	0.0006	0	0	0	0	0	0	0.0044	0.0004916	76	154602	rs143115350	0.0002	0.0002	0.0001	0.0003	0.0038	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0.0002	1.799e-06	0.0002	0.0038	0.0001	0.0001	3.854e-05	0.0002	0.0033	6.505e-05	5.318e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.357	0.12032	T	0.317	0.19304	T	0.707	0.42016	P	0.214	0.37471	B	0.000001	0.84330	D	0.056217	0.999888	0.50402	D	1.965	0.53209	M	1.0	0.41392	T	-1.99	0.45949	N	0.707	0.71055	-1.0991	0.04202	T	0.051	0.21533	T	10	0.017188728	0.00366	T	0.013477	0.32916	T	0.104	0.29647	.	.	0.665184242013	0.66237	0.8906495309461723	0.89034	0.204182828251	0.22841	0.553858160973	0.46401	T	0.027148	0.19941	T	-0.324399	0.06544	T	-0.239591	0.50838	T	0.059293572338216	0.07056	T	0.948605	0.80233	D	0.4135193	0.61658	0.36522648	0.61875	0.4135193	0.61658	0.36522648	0.61875	-8.659	0.65478	D	.	.	0.253	0.48787	B	.	.	3.109739	0.41939	21.4	0.94515085266184806	0.25000	0.98559	0.84088	D	AEFDBIJ	0.611053	0.59965	D	0.259293574631935	0.54099	3.576482	0.387686167196397	0.60805	4.272298	0.999999920847736	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.94	5.94	0.96165	5.496000	0.66636	4.246000	0.42732	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.893000	0.43066	0.0:0.0:0.0:1.0	15.576	0.76129	904	0.23766	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	631.98	35	chr6	89162129	.	T	A	631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.710e-01;DP=808;ExcessHet=0.0000;FS=2.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.03;ReadPosRankSum=-3.080e-01;SOR=0.998	GT:AD:DP:GQ:PL	0/1:43,27:70:99:646,0,1170	20	0	1	0
chr6	100589985	100589985	A	G	exonic	ASCC3	.	nonsynonymous SNV	ASCC3:NM_006828:exon35:c.T5378C:p.I1793T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.0	B	0.132	N	1.000	D	-1.15	N	1.05	T	-1.016	T	0.017	T	0.202	0.985	9.023	5.43	2.069	4.873	15.488	0.089	0.00426256107934	.	.	0.0002	0	0	0	0	0	0	0.0016	0.0002005	31	154602	rs547633655	0.0001	0.0001	9.123e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	5.976e-05	0	0	0	0	0.0002	1.799e-06	0.0002	0.0021	9.201e-05	9.193e-05	6.424e-05	0.0001	0.0023	5.529e-05	4.366e-05	0.0013	0.0010	7.236e-05	0	0	0	0	0	0	0	0	0.0023	0.611	0.05452	T	0.571	0.08777	T	0.0	0.02946	B	0.0	0.01387	B	0.132168	0.18596	N	0.571867	0.996291	0.23058	N	-1.115	0.00953	N	1.05	0.39990	T	0.9	0.01618	N	0.323	0.36359	-1.0165	0.24852	T	0.017	0.07140	T	10	0.009432346	0.00213	T	0.004263	0.10310	T	0.089	0.25827	0.403	0.43408	0.290222751274	0.28632	0.5150498815787433	0.51427	0.312276279515	0.33530	0.306176245213	0.11329	T	0.004054	0.03463	T	-0.515114	0.00469	T	-0.519487	0.20346	T	0.0680952255649387	0.08381	T	0.931207	0.74412	D	0.0913715	0.21408	0.07980599	0.17998	0.0913715	0.21407	0.07980599	0.17997	-0.912	0.00907	T	.	.	0.058	0.00658	B	.	.	2.500042	0.32271	18.99	0.89517456783803051	0.18865	0.94842	0.62518	D	AEFBI	0.502701	0.53500	D	-0.383717818790109	0.26049	1.418685	-0.0923783943733529	0.35704	2.068812	0.923914541007013	0.26760	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.43	5.43	0.79006	4.889000	0.62862	8.038000	0.76302	0.677000	0.82338	0.946000	0.32893	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	15.488	0.75314	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1240.98	33	chr6	100589985	.	A	G	1240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-6.580e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/1:80,55:135:99:1255,0,1812	20	0	1	0
chr6	106519232	106519232	G	A	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.G800A:p.G267D	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.861	P	0.001	D	1.000	D	1.905	M	-0.83	T	-0.226	T	0.362	T	0.583	3.753	19.05	5.59	2.635	2.451	6.562	0.322	.	0.0026	0.00838658	0.0028	0.0095	0.0012	0.0001	0	9e-05	0	0.0136	0.0026972	417	154602	rs11968933	0.0011	0.0011	0.0008	0.0014	0.0117	0.0011	0.0010	0.0111	0.0109	0.0097	0.0008	0	5.038e-05	0	0.0028	0.0001	0.0019	0.0117	0.0032	0.0032	0.0032	0.0033	0.0139	0.0030	0.0029	0.0112	0.0103	0.0094	0	0.0011	0	0	0	0.0034	0.0002	0.0014	0.0139	0.006	0.61437	D	0.367	0.24054	T	0.997	0.70673	D	0.861	0.61279	P	0.000772	0.41888	D	0.000000	0.505011	0.31694	N	.	.	.	-0.83	0.74159	T	-2.14	0.48523	N	0.803	0.79889	-0.2262	0.76987	T	0.362	0.72361	T	10	0.008334041	0.00189	T	.	.	.	0.322	0.64420	.	.	0.844563224946	0.84307	0.09172690507320228	0.09105	0.518823542368	0.49721	0.542679309845	0.44824	T	0.052249	0.29108	T	-0.267171	0.12074	T	-0.145518	0.59638	T	0.0318099328002579	0.02276	T	0.849215	0.53152	T	0.1344912	0.31245	0.21144678	0.45574	0.1344912	0.31245	0.21144678	0.45573	-7.822	0.59851	D	.	.	0.915	0.83787	P	.;.	.;.	4.617764	0.73299	26.0	0.99820860853258508	0.90414	0.80627	0.40216	D	AEFDGBCI	0.209821	0.33576	N	0.612847914379645	0.73986	6.056602	0.613948193139237	0.75953	6.402446	0.999999996146111	0.74766	0.706298	0.61202	0	0.52208	0.09955	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.59	5.59	0.84677	2.531000	0.45309	11.889000	0.99041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0723:0.1301:0.6628:0.1348	6.562	0.21687	865	0.32612	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	910.98	33	chr6	106519232	.	G	A	910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.738e+00;DP=797;ExcessHet=0.0000;FS=0.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-4.780e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/1:42,40:82:99:925,0,1097	20	0	1	0
chr6	108561444	108561444	-	CGG	exonic	FOXO3	.	nonframeshift insertion	FOXO3:NM_001455:exon1:c.236_237insCGG:p.G84_S85insG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0019	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs754063465	7.53e-05	7.525e-05	6.716e-05	8.366e-05	0.0010	6.329e-05	5.914e-05	0.0007	0.0006	0.0010	8.723e-05	0	0.0001	2.24e-05	0	1.21e-05	0.0001	0.0006	0.0003	0.0003	0.0004	0.0003	0.0010	0.0003	0.0002	0.0008	0.0007	0.0010	0	0.0001	0	0	0	0	1.506e-05	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	454.94	41	chr6	108561444	.	T	TCGG	454.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-01;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.17;MQRankSum=-9.800e-02;QD=13.00;ReadPosRankSum=-1.161e+00;SOR=0.892	GT:AD:DP:GQ:PL	0/1:22,13:35:99:469,0,885	20	0	1	0
chr6	111376268	111376268	T	A	exonic	REV3L	.	nonsynonymous SNV	REV3L:NM_001372078:exon13:c.A2087T:p.H696L	.	.	419	1102	1	0	0	1	0.000453515	.	.	3200261	REV3L-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.001	B	0.007	N	0.931	D	0.805	L	4.91	T	-0.801	T	0.003	T	0.711	1.870	12.21	5.53	2.107	5.203	15.673	0.167	.	.	0.00559105	0.0020	9.787e-05	8.693e-05	0	0	0	0.0011	0.0147	0.0018499	286	154602	rs201233180	0.0009	0.0009	0.0005	0.0012	0.0135	0.0008	0.0008	0.0128	0.0126	5.976e-05	2.237e-05	0	7.563e-05	0	0.0003	8.995e-07	0.0013	0.0135	0.0006	0.0006	0.0004	0.0008	0.0192	0.0005	0.0005	0.0161	0.0149	2.405e-05	0	0	0	0.0002	0	0	0	0	0.0192	0.002	0.72154	D	0.111	0.37730	T	0.001	0.07471	B	0.001	0.04355	B	0.007012	0.31656	N	0.315773	0.930906	0.36972	D	.	.	.	4.91	0.01516	T	-1.87	0.43717	N	0.624	0.69737	-0.8013	0.55068	T	0.003	0.00994	T	10	0.004295528	0.00086	T	.	.	.	0.167	0.42761	.	.	0.283272178027	0.27931	0.5569181366809873	0.55618	0.0990860901721	0.11200	0.546316385269	0.45337	T	0.184391	0.53703	T	-0.344746	0.05067	T	-0.256304	0.49191	T	0.0559357523108275	0.06513	T	0.69643	0.30590	T	0.16685407	0.37046	0.17766419	0.40383	0.18698233	0.40131	0.20982897	0.45343	-2.127	0.03879	T	.	.	0.091	0.12938	B	.;.;.;.	.;.;.;.	2.666972	0.34762	19.72	0.96790162640617206	0.31109	0.95918	0.66717	D	AEFBI	0.344395	0.43989	N	-0.0517486405581471	0.39524	2.332202	0.146335026169269	0.46949	2.932587	0.995086950631297	0.33945	0.651	0.46895	0	0.653731	0.59785	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	5.53	5.53	0.82530	6.901000	0.75513	6.221000	0.55125	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	15.673	0.77045	769	0.49307	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1748.98	34	chr6	111376268	.	T	A	1748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.04;DP=1010;ExcessHet=0.0000;FS=3.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.155e+00;SOR=0.591	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1763,0,1720	20	0	1	0
chr6	112061190	112061190	G	A	exonic	CCN6	.	nonsynonymous SNV	CCN6:NM_198239:exon2:c.G248A:p.G83E	.	.	0	1499	18	5	0	28	0.00925314	.	.	626074	not_provided|Progressive_pseudorheumatoid_dysplasia	MedGen:C3661900|MONDO:MONDO:0008827,MedGen:C0432215,OMIM:208230,Orphanet:1159	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.965	M	-0.96	T	0.395	D	0.604	D	0.944	4.597	25.0	4.62	2.254	7.766	17.845	0.874	.	0.0004	0.00399361	0.0027	0.0002	0.0008	0	0	0.0008	0.0022	0.0158	0.002335	361	154602	rs147337485	0.0014	0.0014	0.0009	0.0019	0.0161	0.0014	0.0013	0.0154	0.0152	8.961e-05	0.0005	0.0006	2.519e-05	1.872e-05	0.0061	0.0004	0.0016	0.0161	0.0009	0.0009	0.0007	0.0011	0.0162	0.0008	0.0007	0.0133	0.0122	0.0001	0	0.0003	0.0006	0.0002	0	0.0034	0.0006	0.0005	0.0162	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.45	0.92227	M	-0.96	0.75553	T	-6.29	0.90729	D	0.436	0.47580	0.395	0.89020	D	0.604	0.85932	D	10	0.01232028	0.00265	T	.	.	.	0.874	0.96243	.	.	0.832614169309	0.83102	0.6373487448101447	0.63668	0.417238379944	0.42347	0.527511000633	0.42684	T	0.366326	0.73159	T	0.0487491	0.58182	T	0.310222	0.88663	D	0.0885072440390706	0.11038	T	0.868313	0.59215	D	0.9631424	0.97594	0.9376043	0.97609	0.9631424	0.97594	0.9376043	0.97610	-9.715	0.72365	D	.	.	0.215	0.47470	B	.;.;.;.;.	.;.;.;.;.	4.812746	0.78303	26.9	0.99779883598577257	0.86693	0.98607	0.84635	D	AEFDBI	0.933657	0.92588	D	0.832007187408141	0.88060	9.439173	0.747208251477059	0.85946	8.735362	0.999999999999901	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.62	4.62	0.56946	6.697000	0.74428	11.796000	0.96513	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	17.845	0.88640	693	0.58582	.;Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP;Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP;Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP;Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2076.98	34	chr6	112061190	.	G	A	2076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=940;ExcessHet=0.0000;FS=2.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=-3.990e-01;SOR=0.875	GT:AD:DP:GQ:PL	0/1:128,81:209:99:2091,0,3341	20	0	1	0
chr6	116558035	116558035	G	A	exonic	CALHM4	.	nonsynonymous SNV	CALHM4:NM_001366078:exon2:c.G769A:p.G257R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	1.0	D	1.0	D	0.000	D	1.000	D	2.255	M	2.26	T	-1.128	T	0.086	T	0.921	2.955	15.85	5.99	2.847	6.071	19.464	0.350	0.0329153282242	7.7e-05	.	0.0003	0	8.639e-05	0	0	2.997e-05	0	0.0018	0.0002264	35	154602	rs151332485	0.0001	0.0001	7.351e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	0.0001	0	0	1.872e-05	0	3.147e-05	6.623e-05	0.0019	0.0001	0.0001	0.0001	9.402e-05	0.0010	7.089e-05	5.745e-05	0.0004	0.0003	0.0002	0	0	0	0	0	0.0034	5.881e-05	0	0.0010	0.094	0.58626	T	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000009	0.62929	D	0.000000	0.99985	0.49910	D	.	.	.	2.26	0.17596	T	-2.17	0.49018	N	0.43	0.59816	-1.1281	0.01875	T	0.086	0.33466	T	10	0.03886184	0.02334	T	0.032915	0.54612	D	0.350	0.67142	0.404	0.43573	0.337868961071	0.33390	0.3684622874575098	0.36760	0.555354636073	0.52233	0.555560827255	0.46640	T	0.017324	0.14153	T	-0.100332	0.36371	T	0.0584762	0.74143	D	0.250390454890697	0.22890	T	0.844016	0.62800	T	0.20102301	0.42098	0.22188002	0.47014	0.20102301	0.42098	0.22188002	0.47013	-3.466	0.17267	T	.	.	0.299	0.52929	B	.;.;.;.;.	.;.;.;.;.	4.261072	0.64760	24.7	0.99872884864066647	0.94989	0.83855	0.42948	D	ALL	0.636979	0.61593	D	0.519455405108272	0.68242	5.190158	0.445387158280962	0.64422	4.696921	1.0	0.98316	0.693307	0.56506	0	0.573888	0.26702	0	0.547309	0.15389	0	0.830532	0.99962	0	.	.	5.99	5.99	0.97299	4.583000	0.60675	9.807000	0.81726	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.106000	0.18562	0.0:0.0:1.0:0.0	19.464	0.94923	494	0.76445	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2297.98	37	chr6	116558035	.	G	A	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=1001;ExcessHet=0.0000;FS=2.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=1.12;SOR=0.515	GT:AD:DP:GQ:PL	0/1:107,89:196:99:2312,0,2622	20	0	1	0
chr6	121447059	121447059	C	T	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.C212T:p.P71L,	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.979	D	0.000	D	1.000	D	3.675	H	-6.06	D	1.005	D	0.990	D	0.981	5.163	32	5.5	2.585	7.776	19.394	0.987	0.80308488865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239606179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.996	0.68779	D	0.979	0.74454	D	0.000001	0.84330	D	0.056216	1	0.81001	D	3.78	0.95251	H	-6.06	0.99508	D	-9.07	0.98162	D	0.971	0.98167	1.005	0.97279	D	0.990	0.99708	D	10	0.99403095	0.99916	D	0.803085	0.98461	D	0.987	0.99952	0.919	0.98532	0.994030760964	0.99396	0.9872250244594228	0.98716	1.37094743363	0.84529	0.906715273857	0.97150	D	0.970283	0.99671	D	0.574507	0.96689	D	0.587463	0.96634	D	0.999196231365204	0.96500	D	0.992884	0.97691	D	0.9195683	0.93206	0.87427396	0.93162	0.9195683	0.93206	0.87427396	0.93162	-12.035	0.85021	D	0.9890895693287228	0.99721	0.989	0.93386	P	.;.;.;.;.	.;.;.;.;.	4.657418	0.74301	26.1	0.99822716601073314	0.90502	0.96185	0.67925	D	AEFBCI	0.924880	0.90358	D	0.980170025604979	0.95103	13.31133	0.902196331347405	0.95667	13.84618	0.999999999999998	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	7.905000	0.86479	6.027000	0.52873	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	19.394	0.94589	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	204.13	35	chr6	121447059	.	C	T	204.13	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.840e+00;DP=1087;ExcessHet=0.1072;FS=47.181;InbreedingCoeff=-0.0497;MLEAC=2;MLEAF=0.048;MQ=56.94;MQRankSum=-1.301e+00;QD=0.88;ReadPosRankSum=0.762;SOR=7.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,15:118:99:0|1:121447059_C_T:208,0,3969:121447059	19	0	2	0
chr6	121447061	121447061	A	G	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.A214G:p.I72V,	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.908	P	0.669	P	0.001	N	1.000	D	1.625	L	-5.54	D	1.093	D	0.938	D	0.697	3.371	17.36	5.5	2.089	9.287	15.605	0.787	0.250974127698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.908	0.50127	P	0.669	0.53077	P	0.001142	0.40056	N	0.240936	0.999999	0.58761	D	1.865	0.49290	L	-5.54	0.99184	D	-0.92	0.24676	N	0.498	0.53093	1.093	0.99378	D	0.938	0.97961	D	10	0.8795201	0.87257	D	0.250974	0.89113	D	0.787	0.92948	0.7	0.83684	0.943663086211	0.94307	0.8918822313251208	0.89158	0.856064958791	0.68761	0.738846123219	0.72803	T	0.763452	0.93610	D	0.34166	0.85945	D	0.252994	0.85761	D	0.803063251343763	0.46562	D	0.90391	0.66280	D	0.38390532	0.59598	0.3327721	0.59121	0.38390532	0.59598	0.3327721	0.59121	-6.188	0.47826	T	0.3332976928640002	0.43127	0.176	0.38426	B	.;.;.;.;.	.;.;.;.;.	3.909359	0.56999	23.8	0.99754698206370063	0.84537	0.97121	0.72812	D	AEFBCI	0.942640	0.94747	D	0.628616182966142	0.74992	6.227793	0.663610123529025	0.79629	7.123	0.999999999992006	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	9.325000	0.96006	9.424000	0.80768	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	15.605	0.76411	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	265.87	35	chr6	121447061	.	A	G	265.87	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-3.521e+00;DP=1371;ExcessHet=0.3300;FS=52.366;InbreedingCoeff=-0.0947;MLEAC=2;MLEAF=0.050;MQ=56.91;MQRankSum=-1.531e+00;QD=0.76;ReadPosRankSum=1.02;SOR=8.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,15:118:99:0|1:121447059_C_T:208,0,3969:121447059	17	0	3	1
chr6	125927739	125927739	C	T	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199622:exon4:c.C431T:p.T144I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.7	M	0.85	T	-0.374	T	0.322	T	0.721	4.078	21.0	5.8	2.744	3.418	20.071	0.310	0.0337695859575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.046049	0.999991	0.58761	D	2.645	0.77386	M	0.85	0.47130	T	-4.55	0.78553	D	0.593	0.61341	-0.3737	0.72848	T	0.322	0.69099	T	10	0.5296869	0.63112	D	0.03377	0.55213	D	0.310	0.63162	0.542	0.65446	0.110392049598	0.10638	0.7361813659560693	0.73563	0.493758875756	0.47968	0.727325379848	0.71116	T	0.326126	0.69677	T	0.0912494	0.63330	D	-0.106703	0.62872	T	0.981613278388977	0.74012	D	0.966203	0.94055	D	0.912213	0.92502	0.8593696	0.92136	0.912213	0.92503	0.8593696	0.92136	-7.026	0.57596	T	.	.	0.909	0.86127	P	.;.;.;.;.	.;.;.;.;.	4.862997	0.79599	27.1	0.99875501728492933	0.95244	0.87302	0.46800	D	AEFBCI	0.314837	0.41958	N	0.790928341836536	0.85532	8.604846	0.755157991166596	0.86543	8.92262	0.999999978872137	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.226000	0.58405	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.071	0.97721	817	0.41665	TLDc domain|TLDc domain;TLDc domain|TLDc domain;.;TLDc domain|TLDc domain;TLDc domain|TLDc domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	417.94	33	chr6	125927739	.	C	T	417.94	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.703e+00;DP=1966;ExcessHet=0.6776;FS=168.175;InbreedingCoeff=-0.1056;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=1.72;SOR=10.928	GT:AD:DP:GQ:PL	0/1:153,30:188:37:37,0,3318	17	0	4	0
chr6	129366325	129366325	G	A	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon33:c.G4824A:p.M1608I	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.002	B	0.006	N	1.000	N	0.46	N	3.36	T	-0.919	T	0.004	T	0.088	-1.204	0.070	-0.129	-0.272	1.088	8.772	0.076	0.00757570145102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.005747	0.32538	N	0.348338	0.999788	0.20372	N	0.77	0.19370	N	3.36	0.05918	T	0.38	0.03579	N	0.235	0.26717	-0.9186	0.45743	T	0.004	0.01159	T	10	0.15824193	0.29761	T	0.007576	0.20113	T	0.076	0.22200	0.65	0.78753	0.307966526162	0.30417	0.5865999351714781	0.58589	0.0983630218035	0.11110	0.425968110561	0.28656	T	0.01058	0.19809	T	-0.333266	0.05868	T	-0.71649	0.04967	T	0.0505828820168972	0.05602	T	0.742826	0.36203	T	0.059254076	0.12021	0.062887534	0.12375	0.059254076	0.12020	0.062887534	0.12375	-4.799	0.34580	T	0.09452242000594538	0.06335	0.116	0.23290	B	.;.;.	.;.;.	0.580574	0.09490	6.268	0.67603207996946668	0.08404	0.86254	0.45499	D	AEFBI	0.308442	0.41502	N	-0.643590529298337	0.17647	0.9098524	-0.543536658092092	0.20977	1.132671	0.00460885984960043	0.10636	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.05	-0.129	0.12843	0.969000	0.28967	0.884000	0.22419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.751000	0.35822	0.0:0.3016:0.3431:0.3553	8.772	0.33897	886	0.28090	Laminin alpha, domain I;Laminin alpha, domain I;Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	640.98	33	chr6	129366325	.	G	A	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.212e+00;DP=748;ExcessHet=0.0000;FS=1.037;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=-8.660e-01;SOR=0.896	GT:AD:DP:GQ:PL	0/1:35,27:62:99:655,0,1017	20	0	1	0
chr6	132553440	132553441	AA	-	exonic	TAAR8	.	frameshift deletion	TAAR8:NM_053278:exon1:c.748_749del:p.K250Efs*7,	.	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	0.00219649	0.0010	9.768e-05	0.0002	0.0009	0	0.0002	0.0011	0.0060	0.000461	12	26028	rs537864861	0.0005	0.0005	0.0003	0.0007	0.0060	0.0005	0.0004	0.0056	0.0054	0.0002	8.944e-05	7.652e-05	0.0005	1.872e-05	0.0024	0.0001	0.0006	0.0060	0.0004	0.0004	0.0002	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	0.0003	0	6.547e-05	0	0.0006	0	0	0.0001	0.0005	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2350.94	35	chr6	132553439	.	CAA	C	2350.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.414e+00;DP=850;ExcessHet=0.0000;FS=5.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.78;ReadPosRankSum=1.01;SOR=0.788	GT:AD:DP:GQ:PL	0/1:85,64:149:99:2365,0,3359	20	0	1	0
chr6	134985382	134985382	A	G	exonic	HBS1L	.	nonsynonymous SNV	HBS1L:NM_001145158:exon11:c.T1325C:p.I442T	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.006	B	0.044	N	1.000	D	-0.42	N	1.63	T	-1.032	T	0.013	T	0.166	2.690	14.96	5.79	2.208	4.620	16.133	0.110	0.00292891383786	.	.	1.654e-05	0	0	0.0001	0	0	0	6.137e-05	1.29e-05	2	154602	rs144190026	6.187e-06	7.525e-06	4.105e-06	8.29e-06	7.611e-05	2.91e-06	2.11e-06	3.032e-05	2.062e-05	0	0	0	7.611e-05	0	0	0	0	7.061e-05	6.576e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.021	0.49613	D	0.049	0.48336	D	0.001	0.09854	B	0.002	0.12133	B	0.044014	0.23682	N	0.459802	0.953567	0.37836	D	0.665	0.16292	N	1.63	0.28002	T	-3.76	0.71276	D	0.193	0.26837	-1.0318	0.19873	T	0.013	0.05177	T	10	0.13205627	0.25135	T	0.002929	0.06221	T	0.110	0.31079	0.338	0.32816	0.128874641272	0.12493	0.5740971854401717	0.57338	0.205660221654	0.22987	0.313397109509	0.12421	T	0.212719	0.57384	T	-0.335018	0.05740	T	-0.5135	0.20955	T	0.309108555316925	0.25378	T	0.925307	0.72522	D	0.27452055	0.50517	0.2547868	0.51150	0.27452055	0.50517	0.2547868	0.51149	-7.756	0.59396	D	.	.	0.069	0.06205	B	.;.;.;.;.	.;.;.;.;.	3.542920	0.49765	22.8	0.99358963124059729	0.60904	0.92941	0.56925	D	AEFBI	0.437574	0.49732	N	-0.396330450868792	0.25599	1.390845	-0.120947854390645	0.34547	1.988423	0.999999990050883	0.74766	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.79	5.79	0.91751	4.581000	0.60661	8.006000	0.76170	0.756000	0.94297	0.993000	0.37899	0.990000	0.31317	0.936000	0.47498	1.0:0.0:0.0:0.0	16.133	0.81265	915	0.20917	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	610.98	35	chr6	134985382	.	A	G	610.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=740;ExcessHet=0.0000;FS=3.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=-1.313e+00;SOR=1.349	GT:AD:DP:GQ:PL	0/1:34,26:60:99:625,0,829	20	0	1	0
chr6	138882870	138882878	AGGTAAATG	-	exonic	ECT2L	.	frameshift deletion	ECT2L:NM_001195037:exon15:c.2027_2028del:p.K676Mfs*16	.	.	433	1071	16	2	0	20	0.00925069	.	.	137736	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.0225639	0.0084	0.0006	0.0017	0.0398	0.0015	0.0023	0.0068	0.0292	0.005033	131	26028	rs554645676	0.0058	0.0059	0.0048	0.0068	0.0419	0.0057	0.0057	0.0402	0.0395	0.0007	0.0019	0.0052	0.0419	0.0020	0.0062	0.0028	0.0075	0.0339	0.0051	0.0051	0.0048	0.0055	0.0523	0.0048	0.0047	0.0472	0.0452	0.0012	0	0.0024	0.0046	0.0523	0.0015	0.0102	0.0028	0.0085	0.0373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1794.94	35	chr6	138882869	.	AAGGTAAATG	A	1794.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.720e-01;DP=821;ExcessHet=0.0000;FS=8.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.60;ReadPosRankSum=0.144;SOR=1.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,47:102:99:0|1:138882869_AAGGTAAATG_A:1809,0,2167:138882869	20	0	1	0
chr6	142088531	142088531	C	T	exonic	NMBR	.	nonsynonymous SNV	NMBR:NM_002511:exon2:c.G128A:p.R43H,	.	.	431	1088	3	0	0	3	0.00137678	.	.	2348833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.989	D	0.648	P	0.058	N	1.000	D	2.015	M	2.12	T	-1.148	T	0.068	T	0.756	4.988	29.2	5.61	2.813	5.897	20.000	0.225	0.0173465764793	7.7e-05	.	0.0003	0	0.0003	0	0	0.0002	0.0011	0.0012	0.0002523	39	154602	rs372711016	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0010	0.0009	8.961e-05	0.0003	0.0002	0	0	0.0017	0.0002	0.0002	0.0012	0.0002	0.0002	0.0003	0.0001	0.0010	0.0001	0.0001	0.0004	0.0003	0.0001	0	0.0002	0	0	0	0	0.0002	0	0.0010	0.151	0.24564	T	0.441	0.13290	T	0.989	0.62824	D	0.648	0.52381	P	0.058005	0.22436	N	0.504141	1	0.81001	D	2.505	0.72935	M	2.12	0.19726	T	-0.99	0.26200	N	0.862	0.85872	-1.1478	0.01092	T	0.068	0.27913	T	10	0.44077215	0.58086	T	0.017347	0.39013	T	0.225	0.52323	.	.	0.804478147604	0.80264	0.7398725953467179	0.73932	0.304120174913	0.32729	0.597008526325	0.52482	T	0.050374	0.28578	T	-0.237489	0.15670	T	-0.164354	0.57957	T	0.243506163358688	0.22580	T	0.865913	0.56597	D	0.08905961	0.20795	0.14907658	0.35214	0.08905961	0.20795	0.14907658	0.35213	-6.873	0.53100	T	.	.	0.151	0.33481	B	.	.	3.813814	0.55029	23.6	0.99947544844626157	0.99913	0.83799	0.42894	D	AEFDBCI	0.821577	0.74210	D	0.662827669882128	0.77200	6.629431	0.68703568020346	0.81392	7.516366	0.999999994934185	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	5.61	5.61	0.85347	6.072000	0.70870	4.810000	0.45034	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.0:1.0:0.0:0.0	20.000	0.97405	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	5103.68	107	chr6	142088531	.	C	T	5103.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.942;DP=984;ExcessHet=0.3300;FS=1.780;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=0.400;SOR=0.590	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1556,0,1249	18	0	3	0
chr6	149946535	149946535	G	T	exonic	ULBP2	.	nonsynonymous SNV	ULBP2:NM_025217:exon3:c.G513T:p.K171N,	.	.	422	1098	2	0	0	2	0.000909918	.	.	2344058	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.944	D	.	.	1.000	N	3.025	M	-0.17	T	-0.779	T	0.273	T	0.079	1.860	12.18	-1.87	-0.322	-1.139	5.974	0.161	0.00688117526605	0.0002	0.000399361	0.0002	0	0.0005	0	0	0.0002	0	0.0006	0.0002005	31	154602	rs192707406	9.713e-05	9.713e-05	7.623e-05	0.0001	0.0023	8.376e-05	7.915e-05	0.0013	0.0011	2.987e-05	0.0003	0.0002	0	0	0.0023	6.025e-05	0.0001	0.0004	9.191e-05	9.841e-05	3.854e-05	0.0001	0.0004	5.523e-05	4.361e-05	7.287e-05	3.028e-05	2.406e-05	0.0022	0.0001	0	0	0	0	7.349e-05	0.0009	0.0004	0.004	0.65419	D	0.004	0.74150	D	0.997	0.70673	D	0.944	0.68059	D	.	.	.	.	1	0.08975	N	.	.	.	-0.17	0.65563	T	-3.21	0.64826	D	0.165	0.17416	-0.7794	0.56337	T	0.273	0.64515	T	9	0.15183353	0.28691	T	0.006881	0.18205	T	0.161	0.41658	0.64	0.77687	0.695163590071	0.69253	0.17689641535290768	0.17608	0.249461060041	0.27520	0.310563921928	0.11992	T	0.036128	0.23985	T	-0.428602	0.01511	T	-0.531467	0.19141	T	0.173505871259056	0.18815	T	0.893011	0.63001	D	0.17482315	0.38308	0.15492563	0.36339	0.17482315	0.38307	0.15492563	0.36338	-7.258	0.55896	T	.	.	0.480	0.63679	A	.	.	1.798654	0.22860	15.79	0.99378913615455478	0.61803	0.01286	0.04483	N	AEFBI	0.025568	0.01771	N	-0.374540165229499	0.26379	1.439243	-0.731125247011794	0.16188	0.8551186	1.68063023432919E-4	0.05721	0.706548	0.73137	0	0.627178	0.54094	0	0.563428	0.18855	0	0.714379	0.83352	0	.	.	2.26	-1.87	0.07317	-1.294000	0.02875	-20.000000	0.00162	0.479000	0.22080	0.000000	0.06391	0.000000	0.08366	0.262000	0.23568	0.6475:0.0:0.3525:0.0	5.974	0.18606	336	0.86165	MHC class I-like antigen recognition-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4134.98	39	chr6	149946535	.	G	T	4134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.942;DP=1144;ExcessHet=0.0000;FS=1.292;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.190;SOR=0.757	GT:AD:DP:GQ:PL	0/1:169,164:333:99:4149,0,4115	20	0	1	0
chr6	150683770	150683770	C	T	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329798:exon1:c.C8T:p.P3L,	.	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0183706	0.0366	0	0	0.0234	.	0	0	0.0520	0.003454	534	154602	rs117511150	0.0043	0.0033	0.0028	0.0059	0.0526	0.0042	0.0041	0.0512	0.0507	0.0005	0.0003	0	0.0310	0	0.0025	4.565e-05	0.0094	0.0526	0.0034	0.0034	0.0024	0.0043	0.0608	0.0031	0.0030	0.0550	0.0528	0.0009	0	0.0007	0	0.0303	0	0	8.822e-05	0.0047	0.0608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2217.98	33	chr6	150683770	.	C	T	2217.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.550;DP=863;ExcessHet=0.0000;FS=0.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=1.06;SOR=0.628	GT:AD:DP:GQ:PL	0/1:87,88:175:99:2232,0,2119	20	0	1	0
chr6	151350612	151350612	A	C	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_001370346:exon2:c.A1906C:p.S636R	.	.	431	1057	32	2	0	36	0.0167442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.172	B	0.124	B	0.000	D	1.000	N	1.87	L	3.06	T	-0.959	T	0.009	T	0.328	1.867	12.20	3.24	0.417	2.378	5.780	0.048	.	0.0024	0.00838658	0.0057	0.0004	0.0056	0	0.0003	0.0035	0.0022	0.0237	0.0053622	829	154602	rs146088180	0.0040	0.0040	0.0033	0.0047	0.0230	0.0039	0.0039	0.0222	0.0219	0.0002	0.0035	0.0027	0	0.0004	0.0061	0.0030	0.0042	0.0230	0.0027	0.0027	0.0023	0.0031	0.0287	0.0025	0.0024	0.0248	0.0233	0.0004	0	0.0021	0.0014	0.0002	0.0006	0.0034	0.0030	0.0024	0.0287	0.007	0.59928	D	0.045	0.52060	D	0.172	0.28767	B	0.058	0.32546	B	0.000166	0.48594	D	0.000000	1	0.08975	N	2.615	0.76484	M	3.05	0.08721	T	-3.12	0.63782	D	0.297	0.34336	-0.9588	0.39405	T	0.009	0.03315	T	10	0.0046565533	0.00097	T	.	.	.	0.048	0.13305	0.338	0.32816	0.31291088546	0.30898	0.0800545487200333	0.07940	0.56273454734	0.52734	0.361177116632	0.19557	T	0.432458	0.78022	T	-0.503759	0.00545	T	-0.478806	0.24574	T	0.0570421717880774	0.06695	T	0.845515	0.52437	T	0.2066933	0.42852	0.1648525	0.38168	0.2066933	0.42852	0.1648525	0.38167	-6.4	0.49509	T	.	.	0.501	0.65101	A	.;.;.;.	.;.;.;.	2.148102	0.27360	17.44	0.99226135576698771	0.56057	0.65544	0.32773	D	AEFDBCI	0.312985	0.41827	N	-0.627014738732703	0.18136	0.9391508	-0.628932184624896	0.18751	1.003074	0.991744038446975	0.32594	0.67177	0.52595	0	0.573888	0.26702	0	0.786243	0.99158	0	0.711	0.71501	0	.	.	5.63	3.24	0.36257	2.373000	0.43920	4.637000	0.44139	-0.071000	0.16307	0.746000	0.29090	0.999000	0.35428	0.008000	0.08271	0.7393:0.0:0.1356:0.1251	5.780	0.17567	928	0.17405	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1062.98	97	chr6	151350612	.	A	C	1062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.315e+00;DP=1610;ExcessHet=0.0000;FS=0.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=1.72;SOR=0.548	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1077,0,1315	20	0	1	0
chr6	152224537	152224537	G	A	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon116:c.C21266T:p.T7089I	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	270165	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.996	D	0.000	D	1.000	D	2.125	M	1.35	T	-0.781	T	0.162	T	0.527	3.717	18.88	4.86	1.558	5.311	15.061	0.267	0.0269676371376	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886043255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.39097	T	0.004	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.000010	0.62929	D	0.000000	0.999983	0.58761	D	2.245	0.63543	M	1.35	0.34648	T	-2.21	0.55821	N	0.424	0.50868	-0.7812	0.56235	T	0.162	0.49847	T	10	0.3976959	0.55345	T	0.026968	0.49829	D	0.267	0.58126	0.482	0.56302	0.515882253919	0.51231	0.3443212371412621	0.34346	0.59487213517	0.54784	0.630900144577	0.57273	T	0.245088	0.61432	T	-0.0423038	0.45606	T	-0.298543	0.44879	T	0.961434662342072	0.66081	D	0.869813	0.58316	D	0.1383334	0.31997	0.15497382	0.36348	0.1383334	0.31996	0.15497382	0.36348	-5.709	0.43773	T	.	.	0.505	0.64799	A	.;.;.;.	.;.;.;.	3.692716	0.52622	23.3	0.998970423929739	0.96971	0.96667	0.70300	D	AEFBI	0.541529	0.55764	D	0.617087182278913	0.74254	6.101706	0.563674261097973	0.72355	5.796699	0.998607768609489	0.37289	0.651	0.46895	0	0.653731	0.59785	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	5.73	4.86	0.62624	5.393000	0.66025	9.773000	0.81562	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0682:0.0:0.9318:0.0	15.061	0.71622	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3008.98	33	chr6	152224537	.	G	A	3008.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.940e-01;DP=997;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=-1.254e+00;SOR=0.697	GT:AD:DP:GQ:PL	0/1:145,131:276:99:3023,0,3468	20	0	1	0
chr6	155137408	155137408	A	G	exonic	TIAM2	.	nonsynonymous SNV	TIAM2:NM_001384547:exon4:c.A1426G:p.I476V	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.001	B	0.172	N	1.000	N	-1.61	N	3.74	T	-0.896	T	0.001	T	0.056	-1.485	0.018	-6.69	-0.868	-0.744	4.856	0.007	.	.	0.00419329	0.0022	0	0.0007	0	0	1.498e-05	0.0033	0.0157	0.0019081	295	154602	rs567529147	0.0010	0.0010	0.0005	0.0014	0.0157	0.0009	0.0009	0.0150	0.0147	2.987e-05	0	0	0	0	0.0005	1.439e-05	0.0010	0.0157	0.0007	0.0007	0.0004	0.0009	0.0197	0.0006	0.0005	0.0165	0.0153	4.81e-05	0	6.536e-05	0	0	0	0	4.41e-05	0	0.0197	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.171715	0.03115	N	1.616170	1	0.19853	N	-0.55	0.02420	N	3.74	0.04353	T	-0.11	0.08653	N	0.047	0.06454	-0.8964	0.48351	T	0.001	0.00348	T	10	0.003142655	0.00053	T	.	.	.	0.007	0.00512	.	.	0.112648838833	0.10856	0.2134569694971311	0.21261	0.182214089181	0.20484	0.201198101044	0.00493	T	0.00853	0.07826	T	-0.775344	0.00012	T	-0.873531	0.00710	T	0.00904257595884016	0.00113	T	0.0707929	0.03729	T	0.021349283	0.00733	0.022442508	0.00269	0.021349283	0.00732	0.022442508	0.00269	-2.389	0.05195	T	.	.	0.056	0.00573	B	.;.;.;.	.;.;.;.	-1.786700	0.00162	0.002	0.22366555187203574	0.00896	0.03312	0.08375	N	AEFDBI	0.044669	0.07217	N	-1.6952201643125	0.00859	0.037159	-1.66321170586946	0.01309	0.05906166	0.999690733902357	0.41870	0.562547	0.31514	0	0.588066	0.40923	0	0.489635	0.07774	0	0.635551	0.53088	0	.	.	6.08	-6.69	0.01608	-1.123000	0.03375	-3.476000	0.02758	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5128:0.2834:0.1149:0.0889	4.856	0.12919	546	0.72524	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1998.98	33	chr6	155137408	.	A	G	1998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.299;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-1.880e-01;SOR=0.708	GT:AD:DP:GQ:PL	0/1:76,83:159:99:2013,0,1819	20	0	1	0
chr6	160068316	160068316	A	T	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon30:c.A4183T:p.T1395S,	Hepatocellular carcinoma, somatic	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.036	B	0.015	B	0.052	N	1.000	N	2.135	M	4.34	T	-0.884	T	0.003	T	0.074	-0.029	3.867	3.78	0.749	1.230	4.208	0.054	0.0154438018459	0.0015	0.000399361	0.0011	0.0005	0.0004	0	0.0002	0.0016	0	0.0012	0.0010931	169	154602	rs2230048	0.0019	0.0019	0.0020	0.0018	0.0023	0.0018	0.0018	0.0022	0.0022	0.0004	0.0005	0.0001	0	0.0002	0.0005	0.0023	0.0016	0.0012	0.0010	0.0010	0.0011	0.0009	0.0019	0.0009	0.0008	0.0016	0.0015	0.0003	0	0.0005	0	0.0004	0	0	0.0019	0.0019	0.0006	0.295	0.14743	T	0.683	0.06052	T	0.036	0.20732	B	0.015	0.17295	B	0.051805	0.22949	N	0.465340	1	0.08975	N	.	.	.	4.34	0.02341	T	-0.63	0.18459	N	0.258	0.29197	-0.8841	0.49431	T	0.003	0.01092	T	10	0.00763008	0.00173	T	0.015444	0.36172	T	0.054	0.15330	0.142	0.04556	0.410380932278	0.40655	0.2455390042104387	0.24467	0.417087851708	0.42336	0.563438653946	0.47752	T	0.069252	0.33663	T	-0.643825	0.00079	T	-0.700637	0.05791	T	0.00228521970204519	0.00024	T	0.568943	0.20238	T	0.16621938	0.36943	0.061096128	0.11741	0.21551643	0.43986	0.08164613	0.18570	-2.748	0.07715	T	.	.	0.112	0.22061	B	.;.	.;.	1.772625	0.22541	15.66	0.71206995573606802	0.09551	0.30231	0.24029	N	AEFBCI	0.098228	0.19798	N	-0.683901486295097	0.16481	0.8400294	-0.688879037421936	0.17238	0.9156992	0.99768926450585	0.35903	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	3.78	0.42629	1.054000	0.30064	6.009000	0.52614	0.736000	0.85976	0.094000	0.22667	1.000000	0.68203	0.551000	0.30197	0.6726:0.0:0.1761:0.1513	4.208	0.09956	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1856.98	43	chr6	160068316	.	A	T	1856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=960;ExcessHet=0.0000;FS=1.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=1.42;SOR=0.585	GT:AD:DP:GQ:PL	0/1:85,80:165:99:1871,0,1849	20	0	1	0
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3195.59	88	chr6	167976273	.	A	*,C	3195.59	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=0.163;DP=1063;ExcessHet=1.8260;FS=13.368;InbreedingCoeff=0.0227;MLEAC=10,5;MLEAF=0.250,0.125;MQ=55.81;MQRankSum=-3.188e+00;QD=4.92;ReadPosRankSum=0.937;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:43,0,4:47:1:0|1:167976273_A_C:1,130,1757,0,1627,1615:167976273	7	3	4	1
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	942.0	42	chr6	170561952	.	A	*,G	942.0	.	AC=35,1;AF=0.833,0.024;AN=42;BaseQRankSum=0.00;DP=3619;ExcessHet=0.1217;FS=0.775;InbreedingCoeff=0.2222;MLEAC=35,1;MLEAF=0.833,0.024;MQ=60.00;MQRankSum=0.00;QD=0.75;ReadPosRankSum=1.62;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,37,0:114:99:0|1:170561949_GCAA_G:1209,0,3017,1443,3131,4574:170561949	1	15	4	0
chr6	170561959	170561961	CAG	-	exonic	TBP	.	nonframeshift deletion	TBP:NM_001172085:exon2:c.163_165del:p.Q75del	Spinocerebellar ataxia 17, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	590775	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	9.758e-05	0.0002	0	0.0004	0	0.0002	3.84e-05	1	26028	rs758734033	0.0057	0.0067	0.0062	0.0053	0.0068	0.0056	0.0056	0.0066	0.0066	0.0031	0.0033	0.0037	0.0019	0.0013	0.0032	0.0068	0.0052	0.0017	0.0040	0.0047	0.0041	0.0040	0.0051	0.0038	0.0037	0.0047	0.0045	0.0039	0	0.0029	0.0056	0.0026	0.0005	0.0037	0.0051	0.0040	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2984.38	127	chr6	170561958	.	ACAG	A,ACAGCAG,GCAG	2984.38	.	AC=1,1,1;AF=0.024,0.024,0.024;AN=42;BaseQRankSum=1.95;DP=3232;ExcessHet=0.3300;FS=4.506;InbreedingCoeff=-0.0769;MLEAC=1,1,1;MLEAF=0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=9.10;ReadPosRankSum=2.46;SOR=0.951	GT:AD:DP:GQ:PL	0/1:87,34,0,0:123:99:809,0,4098,1191,4253,6018,1191,4253,6018,6018	18	0	1	0
chr6	170561961	170561961	-	CAG	exonic	TBP	.	nonframeshift insertion	TBP:NM_001172085:exon2:c.165_166insCAG:p.Q75_A76insQ	Spinocerebellar ataxia 17, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2984.38	127	chr6	170561958	.	ACAG	A,ACAGCAG,GCAG	2984.38	.	AC=1,1,1;AF=0.024,0.024,0.024;AN=42;BaseQRankSum=1.95;DP=3232;ExcessHet=0.3300;FS=4.506;InbreedingCoeff=-0.0769;MLEAC=1,1,1;MLEAF=0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=9.10;ReadPosRankSum=2.46;SOR=0.951	GT:AD:DP:GQ:PL	0/1:87,34,0,0:123:99:809,0,4098,1191,4253,6018,1191,4253,6018,6018	18	0	1	0
chr6	170561961	170561961	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	128	893	348	41	112	542	0.194043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	20125.09	79	chr6	170561961	.	G	GCAA,*,A	20125.09	.	AC=13,1,1;AF=0.406,0.031,0.031;AN=32;BaseQRankSum=0.493;DP=3427;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.5184;MLEAC=15,1,1;MLEAF=0.469,0.031,0.031;MQ=59.97;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.905;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:36,1,36,0:73:99:0|1:170561949_GCAA_G:1507,1317,4962,0,1449,3117,1727,4071,2547,5003:170561949	2	1	11	5
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:52,5,34:91:99:.:.:1662,920,2736,0,1613,3118	1	1	3	2
chr7	2433544	2433544	A	G	exonic	CHST12	.	nonsynonymous SNV	CHST12:NM_001243794:exon2:c.A905G:p.N302S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.555	P	0.257	B	0.032	N	0.945	D	0.55	N	-0.7	T	-0.770	T	0.199	T	0.137	1.367	10.50	2.79	0.293	6.034	12.066	0.223	0.0497355940649	.	.	8.441e-06	0	0	0	0	1.546e-05	0	0	6.5e-06	1	154602	rs762671753	3.422e-06	3.42e-06	1.362e-06	5.503e-06	2.987e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	2.987e-05	2.236e-05	0	0	0	0	8.993e-07	0	2.319e-05	1.97e-05	1.968e-05	0	4.029e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.034	0.44029	D	0.262	0.22895	T	0.555	0.38231	P	0.257	0.39298	B	0.032405	0.25034	N	0.464535	0.945164	0.37477	D	1.545	0.39105	L	-0.7	0.72785	T	-0.56	0.17003	N	0.322	0.36254	-0.7700	0.56857	T	0.199	0.55442	T	10	0.39059737	0.54862	T	0.049736	0.63941	D	0.223	0.52023	.	.	0.845319651303	0.84384	0.3361421240162627	0.33527	0.819006976666	0.67072	0.374660789967	0.21498	T	0.125658	0.45152	T	-0.0877484	0.38446	T	-0.363821	0.37610	T	0.366735100746155	0.27670	T	0.909809	0.68064	D	0.09962344	0.23513	0.12919663	0.31068	0.09962344	0.23513	0.12919663	0.31067	-6.557	0.50724	T	.	.	0.081	0.08176	B	.;.	.;.	2.403895	0.30884	18.57	0.96593337203908769	0.30380	0.98948	0.89031	D	AEFDGBI	0.775130	0.70863	D	-0.0275798436064903	0.40608	2.414575	0.0722869696665631	0.43162	2.623615	0.998140153734552	0.36487	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.27	2.79	0.31792	6.023000	0.70499	5.218000	0.47990	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.7268:0.2732:0.0:0.0	12.066	0.52886	873	0.30802	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2038.98	34	chr7	2433544	.	A	G	2038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=907;ExcessHet=0.0000;FS=2.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=0.709;SOR=0.521	GT:AD:DP:GQ:PL	0/1:107,78:185:99:2053,0,2751	20	0	1	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,15,9:24:99:.:.:1083,400,332,503,0,592	0	6	14	0
chr7	5992008	5992008	T	C	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_001322008:exon7:c.A635G:p.Y212C	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	50161	not_provided|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|PMS2-related_disorder|Lynch_syndrome_4|not_specified|Hereditary_nonpolyposis_colorectal_neoplasms	MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144|MedGen:CN169374|MeSH:D003123,MedGen:C0009405	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.981	D	0.000	D	1.000	D	2.875	M	-1.99	D	0.697	D	0.774	D	0.877	3.207	16.74	5.4	2.045	7.667	15.412	0.832	0.0454776446971	0.0004	0.000199681	0.0004	0	0.0005	0	0	0.0004	0.0034	0.0003	0.0002846	44	154602	rs139438201	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0002	0	0.0002	0.0071	0	0	0.0003	4.727e-05	0.0007	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	2.846e-05	1.858e-05	4.811e-05	0	0.0001	0.0055	0	0	0	7.349e-05	0.0009	0	0.024	0.61437	D	0.06	0.45744	T	1.0	0.90584	D	0.981	0.75168	D	0.000055	0.53742	D	0.130172	1	0.81001	D	3.365	0.91266	M	-1.99	0.85320	D	-7.1	0.93974	D	0.94	0.94668	0.697	0.93141	D	0.774	0.92325	D	10	0.04951796	0.04552	T	0.045478	0.61998	D	0.832	0.94691	.	.	0.923305348147	0.92252	0.630275955280824	0.62961	0.293512613635	0.31773	0.763504803181	0.76452	T	0.639538	0.88928	D	0.159248	0.70130	D	0.327231	0.89396	D	0.206025939645237	0.20744	T	0.961304	0.89491	D	0.828623	0.85807	0.7100386	0.82897	0.91380346	0.92653	0.7608746	0.85872	-14.104	0.93389	D	0.6167088525677732	0.68471	0.335	0.62874	B	.;.;.;.;.	.;.;.;.;.	5.159714	0.86445	28.9	0.99658063480598968	0.77757	0.99609	0.97952	D	AEFGBI	0.892392	0.82928	D	0.497969895187631	0.66970	5.019781	0.418689667694996	0.62730	4.493386	0.999995368215801	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	7.674000	0.83146	7.756000	0.68219	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.0:1.0	15.412	0.74652	878	0.29785	DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein family, N-terminal;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1955.98	34	chr7	5992008	.	T	C	1955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.891;DP=898;ExcessHet=0.0000;FS=2.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.33;MQRankSum=1.03;QD=12.15;ReadPosRankSum=0.303;SOR=0.934	GT:AD:DP:GQ:PL	0/1:80,81:161:99:1970,0,1904	20	0	1	0
chr7	7444474	7444474	T	C	exonic	COL28A1	.	nonsynonymous SNV	COL28A1:NM_001037763:exon19:c.A1525G:p.I509V,	.	.	417	1096	8	1	0	10	0.00454133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.132	N	1.000	N	0.015	N	-3.18	D	-0.393	T	0.562	D	0.053	0.099	4.531	-2.03	-0.474	-0.260	10.807	0.294	.	0.0003	0.00539137	0.0027	0.0005	0.0002	0	0.0003	1.499e-05	0.0022	0.0190	0.0023027	356	154602	rs372365805	0.0011	0.0011	0.0006	0.0017	0.0182	0.0011	0.0011	0.0174	0.0171	0.0006	4.472e-05	0	0	3.744e-05	0.0007	2.968e-05	0.0007	0.0182	0.0008	0.0008	0.0006	0.0009	0.0185	0.0006	0.0006	0.0154	0.0142	0.0006	0	0	0	0	0	0	1.47e-05	0	0.0185	0.398	0.10553	T	0.412	0.14456	T	0.0	0.02946	B	0.001	0.04355	B	0.132439	0.02819	N	1.972690	1	0.08975	N	0.415	0.12483	N	-3.18	0.93111	D	0.36	0.03700	N	0.075	0.04913	-0.3925	0.72263	T	0.562	0.84054	D	10	0.00735566	0.00167	T	.	.	.	0.294	0.61388	.	.	0.323342291347	0.31936	0.051599969736774665	0.05101	0.0265829955864	0.02714	0.258846521378	0.04754	T	0.001054	0.00580	T	-0.484644	0.00695	T	-0.454654	0.27185	T	0.00229817729409317	0.00024	T	0.49835	0.15517	T	0.024283469	0.01244	0.035080645	0.02692	0.024283469	0.01243	0.035080645	0.02692	-2.994	0.10116	T	.	.	0.057	0.00543	B	.	.	0.817050	0.11882	8.447	0.43170089024790115	0.03232	0.01364	0.04664	N	AEFBI	0.065825	0.12859	N	-1.56319649827282	0.01459	0.0636691	-1.50572417400609	0.02300	0.1055465	0.107350637659975	0.16553	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.635259	0.50027	0	.	.	4.91	-2.03	0.06959	-0.004000	0.12813	-0.971000	0.06745	-0.705000	0.03985	0.007000	0.17678	0.000000	0.08366	0.922000	0.45779	0.0:0.5066:0.0:0.4934	10.807	0.45723	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	0.02381	1313.98	34	chr7	7444474	.	T	C	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.280e-01;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=1.11;SOR=0.710	GT:AD:DP:GQ:PL	0/1:43,53:96:99:1328,0,1054	20	0	1	0
chr7	7673314	7673319	AGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	16242.43	19	chr7	7673310	.	TAGCAGCAGC	T,TAGCAGCAGCAGC,TAGC,TAGCAGC,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	16242.43	.	AC=16,7,3,1,1,1;AF=0.381,0.167,0.071,0.024,0.024,0.024;AN=42;BaseQRankSum=0.257;DP=845;ExcessHet=4.5793;FS=1.329;InbreedingCoeff=-0.2255;MLEAC=16,7,3,1,1,1;MLEAF=0.381,0.167,0.071,0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=28.25;ReadPosRankSum=-2.670e-01;SOR=0.560	GT:AD:DP:GQ:PL	1/1:0,38,0,0,0,0,0:38:99:1698,115,0,1698,115,1698,1698,115,1698,1698,1698,115,1698,1698,1698,1698,115,1698,1698,1698,1698,1698,115,1698,1698,1698,1698,1698	1	3	5	0
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C	.	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.761	P	0.338	B	.	.	0.965	N	1.04	L	-1.67	D	-0.401	T	0.416	T	0.096	2.838	15.45	4.98	2.586	2.223	13.417	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	0.07143	5345.68	48	chr7	12380643	.	G	C	5345.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.480e-01;DP=1122;ExcessHet=0.3300;FS=3.317;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-2.040e-01;SOR=0.538	GT:AD:DP:GQ:PL	0/1:62,78:140:99:1970,0,1623	18	0	3	0
chr7	20651468	20651468	C	T	exonic	ABCB5	.	stopgain	ABCB5:NM_001163942:exon4:c.C46T:p.R16X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	D	1.000	A	.	.	.	.	.	.	.	.	.	4.878	28.0	1.43	0.328	-0.105	5.364	.	.	.	.	4.946e-05	0	8.688e-05	0	0	1.499e-05	0.0011	0.0002	3.88e-05	6	154602	rs761699207	1.847e-05	1.847e-05	8.168e-06	2.888e-05	0.0003	1.265e-05	1.084e-05	0.0002	0.0002	0	0	0	0	0	0	3.597e-06	0	0.0003	1.973e-05	1.971e-05	1.286e-05	2.693e-05	0.0004	5.25e-06	2.46e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000593	0.43095	D	0.090443	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.951	0.95956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277056	0.81064	D	0.460519	0.93815	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	7.938141	0.97010	36	0.9850963397451421	0.42325	0.16701	0.19509	N	AEFI	0.200144	0.32689	N	-0.180882267505357	0.33931	1.930755	-0.459665613634249	0.23275	1.268432	9.81893421780545E-5	0.04910	0.497415	0.19182	0	0.547309	0.14657	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.2	1.43	0.21585	-0.499000	0.06494	-0.362000	0.09668	-0.977000	0.01913	0.000000	0.06391	0.000000	0.08366	0.076000	0.17014	0.3718:0.4692:0.0:0.159	5.364	0.15404	893	0.26510	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1898.98	36	chr7	20651468	.	C	T	1898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.226;DP=1135;ExcessHet=0.0000;FS=0.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.337;SOR=0.781	GT:AD:DP:GQ:PL	0/1:88,81:169:99:1913,0,2051	20	0	1	0
chr7	21807958	21807958	C	T	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon63:c.C10241T:p.T3414M,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	933833	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.669	P	0.344	B	0.000	N	1.000	N	.	.	-0.81	T	-0.712	T	0.304	T	0.375	0.614	7.304	2.31	0.165	1.766	10.918	0.298	0.0458619827545	.	.	5.983e-05	0	0	0	0	3.593e-05	0	0.0003	3.88e-05	6	154602	rs779964310	2.816e-05	3.01e-05	2.049e-05	3.591e-05	0.0004	2.095e-05	1.885e-05	0.0003	0.0002	0	0	0	0	0	0	6.315e-06	1.663e-05	0.0004	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.014	0.53172	D	.	.	.	.	.	.	.	.	.	0.000011	0.62929	N	0.177951	0.999992	0.08975	N	.	.	.	-0.81	0.73949	T	-2.43	0.53258	N	0.316	0.35620	-0.7119	0.59859	T	0.304	0.67529	T	9	0.14916492	0.28235	T	0.045862	0.62186	D	0.298	0.61843	0.546	0.66015	0.499345284858	0.49572	0.528533266674182	0.52777	.	.	0.374953299761	0.21540	T	0.364942	0.73044	T	-0.201606	0.20572	T	-0.247934	0.50021	T	0.189934738586764	0.19840	T	0.828317	0.49240	T	0.1469088	0.33609	0.3403519	0.59789	0.1469088	0.33608	0.3403519	0.59788	-6.966	0.53785	T	0.6616176888685368	0.73519	0.100	0.16929	B	.;.;.	.;.;.	1.774965	0.22568	15.67	0.94254792607192972	0.24529	0.42536	0.26899	N	AEFBI	0.154053	0.27902	N	-0.518424793653431	0.21484	1.140509	-0.605980698434084	0.19338	1.037131	1.42919403727608E-4	0.05573	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	6.02	2.31	0.27816	1.828000	0.38750	0.833000	0.21967	-0.176000	0.10722	0.310000	0.25414	0.009000	0.19889	0.066000	0.16387	0.0:0.7533:0.0:0.2467	10.918	0.46361	768	0.49510	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	794.98	33	chr7	21807958	.	C	T	794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.533;DP=803;ExcessHet=0.0000;FS=4.416;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=3.21;SOR=1.244	GT:AD:DP:GQ:PL	0/1:43,35:78:99:809,0,991	20	0	1	0
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	87514.16	141	chr7	27095695	.	C	T,*	87514.16	.	AC=39,2;AF=0.929,0.048;AN=42;BaseQRankSum=2.30;DP=3040;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=39,2;MLEAF=0.929,0.048;MQ=60.00;MQRankSum=0.00;QD=30.42;ReadPosRankSum=-1.188e+00;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,167,0:167:99:.:.:5358,502,0,5358,502,5358	0	18	1	0
chr7	30912228	30912228	G	A	exonic	AQP1	.	nonsynonymous SNV	AQP1:NM_001329872:exon1:c.G319A:p.V107I	.	.	417	1088	15	2	0	19	0.00865604	.	.	1589491	AQP1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.997	D	0.96	D	0.000	D	1.000	D	1.14	L	-2.05	D	-0.047	T	0.599	D	0.391	2.811	15.36	4.46	2.490	4.775	15.013	0.378	.	0.0010	0.00439297	0.0037	0.0002	0.0010	0.0001	0	0.0014	0.0034	0.0208	0.0032794	507	154602	rs35804488	0.0023	0.0023	0.0018	0.0029	0.0197	0.0023	0.0022	0.0189	0.0186	5.974e-05	0.0008	0.0036	0	6.15e-05	0.0061	0.0012	0.0030	0.0197	0.0014	0.0015	0.0012	0.0017	0.0168	0.0013	0.0012	0.0138	0.0128	0.0003	0	0.0008	0.0029	0.0002	9.422e-05	0.0068	0.0014	0.0019	0.0168	0.402	0.10412	T	0.511	0.10785	T	0.997	0.70673	D	0.96	0.70309	D	0.000008	0.62929	D	0.063541	0.989557	0.40976	D	0.92	0.23413	L	-2.05	0.85799	D	-0.65	0.18877	N	0.36	0.40164	-0.0472	0.81266	T	0.599	0.85722	D	10	0.009975493	0.00224	T	.	.	.	0.378	0.69612	.	.	0.786091790664	0.78411	0.6611793960095894	0.66054	1.07886715441	0.77077	.	.	.	0.458022	0.79616	T	-0.295333	0.09107	T	-0.180746	0.56453	T	0.0229172142271213	0.01013	T	0.926707	0.72990	D	0.31050563	0.53830	0.20391516	0.44490	0.31050563	0.53830	0.20391516	0.44489	-6.6	0.51053	T	0.13513500408540666	0.14661	0.119	0.24396	B	.	.	3.409413	0.47284	22.4	0.99823375948302329	0.90590	0.86205	0.45441	D	AEFGBCI	0.867877	0.78780	D	0.289237498746932	0.55602	3.724261	0.33964767613929	0.57886	3.956246	0.999999963690114	0.74766	0.582742	0.33608	0	0.59043	0.45803	0	0.602189	0.34648	0	0.620976	0.48614	0	.	.	4.46	4.46	0.53567	4.791000	0.62154	9.963000	0.82809	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	15.013	0.71224	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	0.02381	1431.98	33	chr7	30912228	.	G	A	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.933;DP=803;ExcessHet=0.0000;FS=0.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.107;SOR=0.567	GT:AD:DP:GQ:PL	0/1:54,52:106:99:1446,0,1329	20	0	1	0
chr7	38461396	38461396	G	A	exonic	AMPH	.	nonsynonymous SNV	AMPH:NM_001635:exon11:c.C904T:p.P302S	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.999	D	0.000	D	1.000	D	2.175	M	0.98	T	-0.367	T	0.404	T	0.56	4.607	25.1	5.77	2.740	5.948	19.992	0.208	0.0269658099038	.	.	4.942e-05	0	0	0	0	2.997e-05	0	0.0002	3.88e-05	6	154602	rs753314715	1.095e-05	1.094e-05	5.445e-06	1.65e-05	0.0002	6.48e-06	5.24e-06	5.396e-05	4.042e-05	0	0	0	0	0	0.0002	5.396e-06	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.043	0.55759	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.58	0.75369	M	0.98	0.42122	T	-5.23	0.85323	D	0.553	0.57860	-0.3668	0.73059	T	0.404	0.75459	T	10	0.44746807	0.58488	T	0.026966	0.49829	D	0.299	0.61955	0.186	0.09517	0.841035416357	0.83951	0.46013028004527806	0.45931	0.752084844785	0.63826	0.699686765671	0.67098	T	0.509964	0.82656	D	-0.179426	0.23822	T	-0.235831	0.51204	T	0.803359985351562	0.46583	D	0.962404	0.85901	D	0.58104515	0.71665	0.75442284	0.85486	0.58104515	0.71667	0.75442284	0.85487	-12.955	0.89177	D	.	.	0.484	0.68702	A	.;.	.;.	4.654808	0.74232	26.1	0.99936754450147314	0.99621	0.97750	0.76862	D	AEFBI	0.799204	0.72553	D	0.49819218861363	0.66983	5.021515	0.572245310083591	0.72955	5.892463	0.999880314957856	0.44867	0.706298	0.61202	0	0.547309	0.14657	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.77	5.77	0.91077	7.707000	0.83595	11.744000	0.95258	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.992	0.97370	776	0.48302	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	519.98	33	chr7	38461396	.	G	A	519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.12;ReadPosRankSum=0.258;SOR=0.830	GT:AD:DP:GQ:PL	0/1:43,21:64:99:534,0,1152	20	0	1	0
chr7	40092907	40092907	T	G	exonic	CDK13	.	nonsynonymous SNV	CDK13:NM_003718:exon13:c.T3358G:p.S1120A,	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, Autosomal dominant	.	430	1082	10	0	0	10	0.00459982	.	.	2122406	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.012	B	0.013	B	.	.	1.000	D	0	N	1.51	T	-1.029	T	0.027	T	0.082	2.537	14.44	1.67	1.001	1.960	0.149	0.059	0.00649887984839	.	0.000199681	0.0002	0	0	0	0	1.498e-05	0	0.0013	0.0001488	23	154602	rs561731992	8.824e-05	8.824e-05	4.492e-05	0.0001	0.0013	7.554e-05	7.101e-05	0.0011	0.0010	0	0	0	0	0	0.0007	6.295e-06	9.934e-05	0.0013	7.222e-05	7.218e-05	7.708e-05	6.715e-05	0.0015	3.968e-05	3.125e-05	0.0007	0.0005	2.405e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0015	0.098	0.30800	T	0.382	0.15890	T	0.012	0.16265	B	0.013	0.16460	B	.	.	.	.	1	0.81001	D	0	0.06538	N	1.51	0.30937	T	-0.47	0.15178	N	0.111	0.09772	-1.0289	0.20811	T	0.027	0.11441	T	8	0.012343198	0.00266	T	0.006499	0.17129	T	0.059	0.16972	0.252	0.19067	0.367258803036	0.36341	0.04370498059482221	0.04315	0.147075874367	0.16591	0.458868026733	0.33154	T	0.090419	0.38581	T	-0.562788	0.00244	T	-0.621716	0.11050	T	0.071803942322731	0.08902	T	0.620638	0.23835	T	0.021515166	0.00759	0.05206446	0.08504	0.021515166	0.00758	0.05206446	0.08503	-3.463	0.15917	T	0.09724902022795344	0.06819	0.061	0.01367	B	.;.	.;.	3.065130	0.41174	21.3	0.99136737166203148	0.53410	0.85674	0.44832	D	AEFBI	0.098154	0.19785	N	-0.417124054511366	0.24869	1.345883	-0.227148360024212	0.30568	1.722206	0.337895916639707	0.19553	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.57	1.67	0.23149	1.994000	0.40377	2.803000	0.34863	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.2271:0.1844:0.2354:0.353	0.149	0.00085	541	0.72942	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1488.98	34	chr7	40092907	.	T	G	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e+00;DP=864;ExcessHet=0.0000;FS=4.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.48;ReadPosRankSum=-3.670e-01;SOR=1.096	GT:AD:DP:GQ:PL	0/1:89,68:157:99:1503,0,2362	20	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.013	B	0.006	B	0.033	N	1.000	D	0.205	N	-0.19	T	-1.042	T	0.109	T	0.182	2.035	12.76	3.72	0.900	6.175	12.521	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1842	462.95	111	chr7	43624718	.	C	G	462.95	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.585e+00;DP=2195;ExcessHet=2.5830;FS=236.492;InbreedingCoeff=-0.2524;MLEAC=7;MLEAF=0.184;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=0.806;SOR=12.602	GT:AD:DP:GQ:PL	0/1:96,35:138:29:29,0,1985	12	0	7	2
chr7	44114181	44114181	A	0	exonic	AEBP1	.	.	.	.	.	0	89	99	37	1	174	0.492877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	36873.42	35	chr7	44114181	.	A	G,*	36873.42	.	AC=18,1;AF=0.429,0.024;AN=42;BaseQRankSum=-9.170e-01;DP=2196;ExcessHet=0.0777;FS=0.000;InbreedingCoeff=0.3272;MLEAC=18,1;MLEAF=0.429,0.024;MQ=60.00;MQRankSum=0.00;QD=19.92;ReadPosRankSum=-2.890e-01;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,175,0:175:99:.:.:5440,519,0,5440,519,5440	8	5	7	0
chr7	44966141	44966141	G	A	exonic	MYO1G	.	nonsynonymous SNV	MYO1G:NM_033054:exon16:c.C2089T:p.R697W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.556	P	0.209	N	1.000	D	2.16	M	-2.31	D	0.202	D	0.631	D	0.529	3.907	19.87	2.61	0.379	6.332	12.223	0.484	0.152233885452	0.0002	0.000199681	0.0001	0.0004	8.706e-05	0	0	0	0	0.0006	0.0001035	16	154602	rs374399060	5.203e-05	5.199e-05	2.997e-05	7.43e-05	0.0006	4.261e-05	3.891e-05	0.0005	0.0005	0.0002	6.708e-05	0	0	0	0	3.597e-06	9.938e-05	0.0006	0.0001	0.0001	8.995e-05	0.0001	0.0008	6.509e-05	5.321e-05	0.0003	0.0002	0.0003	0	0	0	0	0	0	1.47e-05	0	0.0008	0.001	0.78490	D	0.004	0.74150	D	0.994	0.66517	D	0.556	0.49411	P	0.208891	0.16414	N	0.450190	0.999948	0.51968	D	3.365	0.91266	M	-2.31	0.87750	D	-4.64	0.79316	D	0.618	0.63374	0.202	0.85937	D	0.631	0.87050	D	10	0.2580405	0.43227	T	0.152234	0.83368	D	0.484	0.77335	.	.	0.691485849014	0.68883	0.7104444730820757	0.70986	0.620721027609	0.56377	0.340287715197	0.16481	T	0.382101	0.74426	T	-0.105536	0.35506	T	-0.0135263	0.69454	D	0.799919545650482	0.46347	D	0.986301	0.95349	D	0.20616086	0.42781	0.22052397	0.46831	0.20616086	0.42781	0.22052397	0.46830	-10.18	0.74982	D	.	.	0.120	0.26576	B	.;.	.;.	4.944737	0.81627	27.6	0.9990384112405869	0.97502	0.89391	0.49827	D	AEFDGBHCI	0.810911	0.73403	D	0.21566672016446	0.51959	3.37322	0.106305225676929	0.44870	2.760523	0.9999999776744	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.54	2.61	0.30255	6.547000	0.73792	5.459000	0.48667	0.676000	0.76740	0.997000	0.40164	0.988000	0.31051	0.450000	0.27895	0.0:0.0:0.7237:0.2763	12.223	0.53755	716	0.55970	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1145.98	38	chr7	44966141	.	G	A	1145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=827;ExcessHet=0.0000;FS=0.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=1.10;SOR=0.598	GT:AD:DP:GQ:PL	0/1:69,47:116:99:1160,0,1761	20	0	1	0
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.067	B	0.015	B	0.801	N	1.000	N	1.43	L	2.05	T	-0.987	T	0.034	T	0.157	1.299	10.25	-2.48	-0.557	-1.200	0.856	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,26,0:103:23:0|1:47829595_G_C:23,0,1718,245,1787,2032:47829595	5	0	7	7
chr7	47829595	47829595	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565T:p.L2189F,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.325	B	0.037	B	0.801	N	1.000	N	1.43	L	1.99	T	-1.014	T	0.032	T	0.13	3.478	17.80	-2.48	-0.557	-1.200	0.856	0.011	0.00242358400914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.156	0.31833	T	0.325	0.33132	B	0.037	0.23121	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.67	0.42885	L	1.99	0.21666	T	-1.12	0.28906	N	0.071	0.04426	-1.0143	0.25561	T	0.032	0.13635	T	10	0.06819993	0.09611	T	0.002424	0.04757	T	0.011	0.01250	0.462	0.53079	0.0806252709748	0.07271	0.07619938893513355	0.07555	0.119333337301	0.13438	0.287016183138	0.08490	T	0.119498	0.44106	T	-0.313121	0.07477	T	-0.687553	0.06531	T	0.07061240769398	0.08737	T	0.506949	0.16072	T	0.03793613	0.04957	0.059033968	0.11012	0.03793613	0.04957	0.059033968	0.11011	-5.256	0.39506	T	0.3493390781858841	0.44665	0.093	0.14108	B	.	.	0.478457	0.08477	5.239	0.99599511188636891	0.74101	0.00455	0.02200	N	AEFDBI	0.023300	0.01279	N	-0.856956854539942	0.11880	0.5757883	-0.946628518479765	0.11002	0.5577856	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,26,0:103:23:0|1:47829595_G_C:23,0,1718,245,1787,2032:47829595	5	0	7	7
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.995	D	0.547	P	0.460	N	1.000	N	1.39	L	2.15	T	-1.059	T	0.048	T	0.465	2.843	15.47	1.54	0.218	0.068	6.370	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5979.44	105	chr7	47829596	.	G	C,A	5979.44	.	AC=17,3;AF=0.425,0.075;AN=40;BaseQRankSum=-3.700e-02;DP=2719;ExcessHet=43.6797;FS=321.470;InbreedingCoeff=-0.9530;MLEAC=18,3;MLEAF=0.450,0.075;MQ=60.00;MQRankSum=0.00;QD=2.79;ReadPosRankSum=-7.300e-02;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,26,0:103:23:0|1:47829595_G_C:23,0,1718,245,1787,2032:47829595	0	0	17	1
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V,	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	.	.	.	.	-1.000	T	0.055	T	0.083	0.343	5.860	-8.46	-2.174	-2.702	2.202	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3438	2447.51	210	chr7	50368104	.	C	G	2447.51	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.605e+00;DP=3458;ExcessHet=7.7275;FS=209.069;InbreedingCoeff=-0.4848;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.31;ReadPosRankSum=1.84;SOR=13.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,55:207:99:.:.:105,0,2534	5	0	11	5
chr7	51136195	51136195	C	T	exonic	COBL	.	nonsynonymous SNV	COBL:NM_001287436:exon6:c.G920A:p.G307D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.801	P	0.417	B	0.729	N	1.000	N	1.5	L	1.01	T	-1.033	T	0.091	T	0.161	1.960	12.51	4.62	2.620	0.199	4.065	0.122	0.0154180455803	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387438369	6.847e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.34982	T	0.106	0.37872	T	0.801	0.45051	P	0.417	0.44992	B	0.728646	0.09874	N	0.852484	1	0.08975	N	1.39	0.34934	L	1.01	0.41058	T	-1.67	0.44852	N	0.234	0.36359	-1.0334	0.19363	T	0.091	0.34955	T	10	0.101707995	0.18599	T	0.015418	0.36141	T	0.122	0.33800	0.303	0.27164	0.365710854667	0.36188	0.14042166852442511	0.13965	0.263161145302	0.28869	0.292554408312	0.09295	T	0.021267	0.35394	T	-0.286016	0.10040	T	-0.551765	0.17157	T	0.216408252716064	0.21283	T	0.827917	0.51077	T	0.085179254	0.19749	0.073767625	0.16066	0.085179254	0.19748	0.073767625	0.16066	-8.436	0.64443	D	.	.	0.149	0.40810	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.947204	0.13229	9.732	0.97590552783824258	0.34791	0.04229	0.09748	N	AEFGBI	0.086471	0.17532	N	-0.383343100667105	0.26061	1.419513	-0.426833039335361	0.24213	1.32468	0.999860425681074	0.44398	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.55	4.62	0.56946	0.227000	0.17575	0.009000	0.13411	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.1756:0.5913:0.1482:0.0848	4.065	0.09334	830	0.39242	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2942.98	38	chr7	51136195	.	C	T	2942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.200e-02;DP=973;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=-1.616e+00;SOR=0.690	GT:AD:DP:GQ:PL	0/1:143,120:263:99:2957,0,3684	20	0	1	0
chr7	64706534	64706534	A	C	exonic	ZNF107	.	nonsynonymous SNV	ZNF107:NM_001282360:exon3:c.A341C:p.Q114P	.	.	433	1073	14	2	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.068	B	0.041	B	.	.	1.000	N	2.6	M	4.51	T	-0.945	T	0.091	T	0.348	0.778	8.107	-1.83	-0.963	0.244	1.929	0.063	.	7.7e-05	0.00319489	0.0018	0.0002	0.0003	0.0001	0	7.554e-05	0.0022	0.0123	0.0015847	245	154602	rs142189998	0.0008	0.0008	0.0004	0.0011	0.0115	0.0007	0.0007	0.0109	0.0106	0	9.101e-05	0	5.045e-05	0	0.0023	5.945e-05	0.0007	0.0115	0.0004	0.0004	0.0002	0.0005	0.0099	0.0003	0.0003	0.0077	0.0069	0	0	6.535e-05	0	0	0	0	7.354e-05	0	0.0099	0.06	0.42783	T	0.055	0.61642	T	0.068	0.23728	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.545	0.74286	M	4.51	0.36691	T	-5.49	0.85765	D	0.264	0.29889	-0.9447	0.41863	T	0.091	0.34901	T	9	0.015808195	0.00332	T	.	.	.	0.063	0.18251	.	.	0.0138822411134	0.00435	0.10091240539678027	0.10022	0.00731415043259	0.00644	0.24811989069	0.03572	T	0.068794	0.53556	T	-0.492326	0.00631	T	-0.469581	0.25562	T	0.0348393270386304	0.02781	T	0.0692931	0.30630	T	0.21785568	0.44279	0.20405993	0.44512	0.21785568	0.44279	0.20405993	0.44511	-6.634	0.51312	T	.	.	0.097	0.15966	B	.;.;.;.;.;.	.;.;.;.;.;.	0.801542	0.11722	8.300	0.87872778380439376	0.17545	0.00009	0.00143	N	AEFDGBHCI	0.047531	0.08015	N	-1.2704182975546	0.04037	0.1814379	-1.47340553929022	0.02564	0.1181649	0.00248549871691667	0.09470	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	0.916	-1.83	0.07410	-0.188000	0.09638	.	.	-0.339000	0.05715	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4213:0.2895:0.0:0.2892	1.929	0.03121	799	0.44747	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1001.98	46	chr7	64706534	.	A	C	1001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.190e-01;DP=906;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-1.208e+00;SOR=0.692	GT:AD:DP:GQ:PL	0/1:55,44:99:99:1016,0,1448	20	0	1	0
chr7	75120909	75120909	G	A	exonic	GTF2IRD2B	.	nonsynonymous SNV	GTF2IRD2B:NM_001003795:exon4:c.G257A:p.C86Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.009	B	0.005	B	.	.	1.000	N	0	N	3.01	T	-1.039	T	0.046	T	0.118	-0.541	1.545	-1.66	-0.375	-0.613	4.064	0.013	0.013047206994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	4.104e-06	0	6.877e-06	5.798e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.798e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.856	0.26226	T	0.009	0.15093	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.112	0.13626	-1.0392	0.17556	T	0.046	0.19760	T	9	0.06656656	0.09150	T	0.013047	0.32145	T	.	.	0.327	0.31034	0.0551355673512	0.04727	0.05098949977901621	0.05040	.	.	0.260815143585	0.04988	T	0.009617	0.08746	T	-0.369794	0.03605	T	-0.646416	0.09207	T	0.0168608027791443	0.00439	T	0.244176	0.03564	T	0.07443642	0.16705	0.09558755	0.22678	0.07443642	0.16704	0.09558755	0.22678	-4.889	0.35611	T	.	.	0.077	0.06571	B	.;.;.	.;.;.	-0.293154	0.02648	0.336	0.28683291479401662	0.01485	0.00433	0.02120	N	AEFI	0.018941	0.00615	N	-1.16017086053113	0.05615	0.2564182	-1.20985896368589	0.05750	0.2748825	1.50015515183902E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	3.82	-1.66	0.07824	-0.516000	0.06367	-1.043000	0.06508	0.447000	0.21209	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.2868:0.3915:0.3217:0.0	4.064	0.09331	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2498.98	35	chr7	75120909	.	G	A	2498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.400e-01;DP=1076;ExcessHet=0.0000;FS=0.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.25;MQRankSum=-1.200e-01;QD=6.79;ReadPosRankSum=-6.490e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/1:238,130:368:99:2513,0,5550	20	0	1	0
chr7	75422276	75422276	G	A	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon13:c.C1976T:p.T659I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.95	P	0.648	P	0.489	N	0.815	N	1.955	M	3.41	T	-0.993	T	0.075	T	0.177	1.179	9.794	-0.402	-0.244	2.081	11.562	0.126	0.032511213841	.	.	0	0	0	0	0	0	0	0	.	.	.	rs782033883	1.645e-05	1.779e-05	8.182e-06	2.48e-05	0.0002	1.113e-05	9.35e-06	9.803e-05	7.847e-05	0	0	0	0	0	0	8.996e-06	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.76473	D	0.95	0.53885	P	0.648	0.52381	P	0.489344	0.12075	N	0.670270	0.946569	0.28949	N	.	.	.	.	.	.	.	.	.	0.238	0.26837	-0.9926	0.31933	T	0.075	0.30303	T	10	0.11365357	0.21359	T	0.032511	0.54314	D	.	.	0.218	0.13932	0.0611884634855	0.05136	0.10642934345243635	0.10572	.	.	0.514695882797	0.40880	T	0.104134	0.41343	T	-0.34852	0.04820	T	-0.439464	0.28869	T	0.162125053882651	0.18027	T	0.727427	0.34191	T	0.017348988	0.00265	0.048926517	0.07371	0.017348988	0.00265	0.048926517	0.07371	-6.291	0.48650	T	.	.	0.189	0.43130	B	.;.	.;.	1.697883	0.21627	15.28	0.94817865371783527	0.25584	0.67968	0.33626	D	AEFI	0.153641	0.27853	N	-0.586288526232909	0.19360	1.012633	-0.794513007982405	0.14630	0.7653851	1.13774854273706E-5	0.02871	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	2.86	-0.402	0.11786	2.057000	0.40991	2.040000	0.30295	-1.613000	0.00878	0.717000	0.28791	0.769000	0.26685	0.001000	0.02609	0.0:0.5405:0.4595:0.0	11.562	0.50033	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	439.98	39	chr7	75422276	.	G	A	439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.766;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.10;MQRankSum=-1.618e+00;QD=5.43;ReadPosRankSum=0.629;SOR=0.734	GT:AD:DP:GQ:PL	0/1:58,23:81:99:454,0,1433	20	0	1	0
chr7	86940048	86940048	G	A	exonic	ELAPOR2	.	nonsynonymous SNV	ELAPOR2:NM_001291991:exon5:c.C89T:p.A30V	.	.	.	.	.	.	.	.	.	.	.	2728943	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.68	T	0.002	B	0.002	B	0.000	N	0.718	N	-0.885	N	0.91	T	-1.041	T	0.030	T	0.173	0.711	7.786	3.86	1.502	3.839	4.531	0.067	0.00437899564799	7.7e-05	.	2.478e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs374145370	2.467e-05	2.736e-05	9.548e-06	3.995e-05	0.0003	1.806e-05	1.603e-05	0.0002	0.0001	0	0.0001	0	0	0	0	3.603e-06	6.639e-05	0.0003	2.632e-05	2.627e-05	2.572e-05	2.694e-05	0.0002	8.15e-06	5.15e-06	2.267e-05	9.1e-06	2.416e-05	0	0.0001	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	0.000230	0.47286	N	0.180906	0.718208	0.33589	D	-1.11	0.00959	N	0.91	0.44856	T	0.24	0.04533	N	0.1	0.08227	-1.0413	0.16921	T	0.030	0.12804	T	10	0.030792445	0.01208	T	0.004379	0.10687	T	0.067	0.19503	.	.	0.262662153117	0.25859	0.27410039133699476	0.27323	0.21882373752	0.24425	0.608333110809	0.54080	T	0.002629	0.02024	T	-0.421192	0.01680	T	-0.546597	0.17653	T	0.074597547103739	0.09282	T	0.714629	0.38273	T	0.022108758	0.00851	0.04339495	0.05390	0.022108758	0.00851	0.04339495	0.05390	-1.149	0.01368	T	.	.	0.074	0.09191	B	.;.;.	.;.;.	1.810411	0.23007	15.85	0.61754354135497214	0.06789	0.77822	0.38310	D	AEFBI	0.158781	0.28449	N	-0.516125850855099	0.21558	1.145006	-0.271859634173599	0.29030	1.62318	0.999541473539848	0.40300	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.9	3.86	0.43689	3.863000	0.55728	3.294000	0.37329	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.308000	0.24690	0.3986:0.0:0.6014:0.0	4.531	0.11411	587	0.69154	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1638.98	36	chr7	86940048	.	G	A	1638.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.120;DP=816;ExcessHet=0.0000;FS=1.455;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-1.993e+00;SOR=0.778	GT:AD:DP:GQ:PL	0/1:51,70:121:99:1653,0,1090	20	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.278	B	0.057	B	0.039	N	0.999	N	0.55	N	2.78	T	-1.004	T	0.025	T	0.135	-1.573	0.014	0.721	0.204	1.133	8.086	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	1784.86	153	chr7	93102964	.	C	G	1784.86	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-6.633e+00;DP=3581;ExcessHet=9.6308;FS=118.636;InbreedingCoeff=-0.4288;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.355;SOR=12.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,24:164:82:0|1:93102964_C_G:82,0,5483:93102964	9	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.013	B	0.007	B	0.039	N	0.999	N	1.1	L	2.77	T	-1.040	T	0.033	T	0.114	0.260	5.406	-0.384	-0.014	1.650	6.198	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	3255.88	153	chr7	93102965	.	C	G	3255.88	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-5.671e+00;DP=4087;ExcessHet=36.0830;FS=132.372;InbreedingCoeff=-0.8389;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.452;SOR=13.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,24:164:82:0|1:93102964_C_G:82,0,5483:93102964	2	0	19	0
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.254	B	0.323	B	0.000	D	1.000	D	2.2	M	.	.	-0.539	T	0.336	T	0.848	3.986	20.4	4.74	2.629	4.848	17.024	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	359.48	99	chr7	93996297	.	C	G	359.48	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-3.848e+00;DP=2300;ExcessHet=3.5521;FS=355.066;InbreedingCoeff=-0.2345;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=0.909;SOR=13.026	GT:AD:DP:GQ:PL	0/1:60,21:94:2:2,0,1159	13	0	8	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.012	N	1.000	N	-0.69	N	0.82	T	-1.039	T	0.045	T	0.096	1.174	9.778	2.18	0.152	0.340	7.051	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	15996.74	114	chr7	100175805	.	G	C	15996.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.177e+00;DP=2291;ExcessHet=54.0936;FS=322.385;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=0.978;SOR=13.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,15:113:99:0|1:100175805_G_C:130,0,3763:100175805	0	0	21	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	11054.86	98	chr7	100773851	.	A	G,*	11054.86	.	AC=6,31;AF=0.143,0.738;AN=42;DP=2409;ExcessHet=1.1607;FS=0.796;InbreedingCoeff=-0.1351;MLEAC=6,31;MLEAF=0.143,0.738;MQ=60.00;QD=4.79;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,122:122:99:1|1:100773849_CCAT_C:5441,5441,5441,367,367,0:100773849	0	1	0	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	68137.53	98	chr7	100773854	.	G	GTT,*	68137.53	.	AC=31,6;AF=0.738,0.143;AN=42;BaseQRankSum=0.460;DP=2329;ExcessHet=1.1607;FS=0.793;InbreedingCoeff=-0.1351;MLEAC=31,6;MLEAF=0.738,0.143;MQ=60.00;MQRankSum=0.00;QD=29.50;ReadPosRankSum=0.812;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,122,0:122:99:1|1:100773849_CCAT_C:5441,367,0,5441,367,5441:100773849	0	11	5	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	358.48	781	chr7	100952945	.	C	*,A	358.48	.	AC=19,2;AF=0.452,0.048;AN=42;BaseQRankSum=1.12;DP=13562;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=19,2;MLEAF=0.452,0.048;MQ=58.45;MQRankSum=-8.589e+00;QD=0.03;ReadPosRankSum=1.76;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:493,99,0:592:99:0|1:100952930_T_C:2673,0,20403,4157,20701,24858:100952930	0	0	19	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25169.59	570	chr7	100953156	.	C	T,*	25169.59	.	AC=6,16;AF=0.143,0.381;AN=42;BaseQRankSum=6.06;DP=11437;ExcessHet=43.6797;FS=8.756;InbreedingCoeff=-0.9091;MLEAC=6,16;MLEAF=0.143,0.381;MQ=57.66;MQRankSum=-1.630e+01;QD=2.22;ReadPosRankSum=-4.630e-01;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:447,35,52:534:99:0|1:100953129_T_C:838,714,19378,0,17300,18613:100953129	0	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1141.98	562	chr7	100953158	.	G	*,T	1141.98	.	AC=18,2;AF=0.429,0.048;AN=42;BaseQRankSum=5.93;DP=11248;ExcessHet=43.6797;FS=14.318;InbreedingCoeff=-0.9091;MLEAC=18,2;MLEAF=0.429,0.048;MQ=57.68;MQRankSum=-1.628e+01;QD=0.11;ReadPosRankSum=-5.200e-01;SOR=1.607	GT:AD:DP:GQ:PL	0/1:445,52,23:530:99:844,0,18529,1218,17720,19834	1	0	18	0
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	122869.23	574	chr7	100953371	.	C	A,*	122869.23	.	AC=20,2;AF=0.476,0.048;AN=42;BaseQRankSum=-2.807e+00;DP=13314;ExcessHet=43.6797;FS=5.958;InbreedingCoeff=-0.9091;MLEAC=20,2;MLEAF=0.476,0.048;MQ=57.56;MQRankSum=-1.348e+01;QD=10.82;ReadPosRankSum=0.229;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:376,95,0:511:99:.:.:2857,0,15502,3989,15788,19777	0	0	19	0
chr7	100953490	100953490	G	0	exonic	MUC3A	.	.	.	.	.	745	492	219	17	49	302	0.204527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	36352.82	833	chr7	100953490	.	G	T,*	36352.82	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.232e+00;DP=18586;ExcessHet=36.0830;FS=0.000;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.405,0.048;MQ=57.38;MQRankSum=-1.467e+01;QD=2.05;ReadPosRankSum=5.58;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:732,59,0:791:99:0|1:100953486_C_A:274,0,30559,2477,30737,33214:100953486	2	0	17	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16936.68	834	chr7	100953494	.	C	A,*	16936.68	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=-9.240e-01;DP=18602;ExcessHet=14.4320;FS=0.762;InbreedingCoeff=-0.5000;MLEAC=10,4;MLEAF=0.238,0.095;MQ=57.31;MQRankSum=-8.273e+00;QD=1.27;ReadPosRankSum=-1.446e+00;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:698,96,0:794:99:0|1:100953471_A_C:1910,0,28634,4011,28923,32934:100953471	7	0	10	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I,	.	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	33287.25	909	chr7	100953548	.	C	G,T	33287.25	.	AC=15,3;AF=0.357,0.071;AN=42;BaseQRankSum=1.28;DP=19526;ExcessHet=30.0624;FS=0.819;InbreedingCoeff=-0.7477;MLEAC=15,3;MLEAF=0.357,0.071;MQ=55.79;MQRankSum=-8.386e+00;QD=1.94;ReadPosRankSum=3.82;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:784,96,0:880:99:.:.:1671,0,32631,4031,32920,36951	3	0	15	0
chr7	100955012	100955012	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3233A:p.R1078K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.317e-06	0.0001	4.898e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	3.939e-05	0	8.995e-06	0.0019	0	1.83e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	0.126	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	0.07244828	0.10815	T	.	.	.	.	.	.	.	.	.	0.042076156409536575	0.04152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-6.363	0.49220	T	.	.	0.154	0.34049	B	.;.	.;.	0.226431	0.06082	2.525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.247000	0.03004	-9.307000	0.00838	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	24713.07	719	chr7	100955012	.	G	C,A	24713.07	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.062e+00;DP=13307;ExcessHet=17.4423;FS=13.525;InbreedingCoeff=-0.5721;MLEAC=14,1;MLEAF=0.333,0.024;MQ=56.37;MQRankSum=-1.052e+01;QD=2.42;ReadPosRankSum=0.662;SOR=2.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:552,33,43:628:99:.:.:128,401,23479,0,21771,23020	6	0	14	0
chr7	100955586	100955586	T	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	47603.67	377	chr7	100955586	.	T	A,*	47603.67	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=-3.380e+00;DP=9878;ExcessHet=25.1139;FS=6.754;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.66;MQRankSum=-1.812e+01;QD=5.71;ReadPosRankSum=-7.510e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:451,102,0:553:99:.:.:2925,0,18630,4283,18937,23220	3	0	14	1
chr7	100955587	100955587	G	0	exonic	MUC3A	.	.	.	.	.	948	292	244	32	6	314	0.345291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	46737.11	377	chr7	100955587	.	G	C,*	46737.11	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=0.104;DP=9885;ExcessHet=25.1139;FS=6.502;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.65;MQRankSum=-1.817e+01;QD=5.55;ReadPosRankSum=-6.860e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:455,91,8:554:99:.:.:2451,0,18831,3485,18769,22566	3	0	14	1
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	30532.88	499	chr7	100955917	.	G	C,*	30532.88	.	AC=10,3;AF=0.278,0.083;AN=36;BaseQRankSum=-1.985e+00;DP=19448;ExcessHet=11.8493;FS=4.100;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.306,0.083;MQ=56.33;MQRankSum=-1.229e+01;QD=2.43;ReadPosRankSum=2.52;SOR=1.144	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:676,0,55:731:99:0|1:100955895_T_A:275,2309,30695,0,28385,28220:100955895	5	0	10	3
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A,	.	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	23255.17	557	chr7	100955959	.	ACC	A,GCC	23255.17	.	AC=15,2;AF=0.357,0.048;AN=42;BaseQRankSum=3.10;DP=16785;ExcessHet=25.1139;FS=4.174;InbreedingCoeff=-0.6800;MLEAC=15,2;MLEAF=0.357,0.048;MQ=57.02;MQRankSum=-1.169e+01;QD=1.66;ReadPosRankSum=-1.368e+00;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:640,62,0:702:99:0|1:100955895_T_A:677,0,26687,2603,26873,29477:100955895	4	0	15	0
chr7	100957412	100957412	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C5633A:p.S1878Y,	.	.	468	1046	7	1	0	9	0.00428367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010492342	0.0042	0.0037	0.0023	0.0060	0.0562	0.0041	0.0041	0.0545	0.0539	0.0002	0	0	8.263e-05	0	0.0014	9.114e-05	0.0031	0.0562	0.0031	0.0033	0.0015	0.0047	0.0958	0.0028	0.0028	0.0885	0.0857	0.0002	0	6.531e-05	0	0.0002	0	0	4.409e-05	0.0005	0.0958	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.10911	.	.	.	.	.	.	.	0.004273385	0.00086	T	.	.	.	.	.	.	.	.	.	0.008749316577987172	0.00838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348865	0.08742	T	.	.	.	.	.	.	.	.	-7.98	0.60934	D	.	.	0.212	0.44069	B	.;.	.;.	0.930575	0.13055	9.562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.557000	0.06076	-0.848000	0.07190	0.431000	0.20936	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5772.98	563	chr7	100957412	.	C	A	5772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.705e+00;DP=11429;ExcessHet=0.0000;FS=0.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.26;MQRankSum=3.36;QD=11.88;ReadPosRankSum=-7.390e-01;SOR=0.643	GT:AD:DP:GQ:PL	0/1:321,165:486:99:5787,0,12732	20	0	1	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	87422.78	564	chr7	100960582	.	T	A,*	87422.78	.	AC=15,6;AF=0.357,0.143;AN=42;BaseQRankSum=0.858;DP=12953;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=15,6;MLEAF=0.357,0.143;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:360,160,0:520:99:0|1:100960582_T_A:5635,0,14498,6718,14979,21698:100960582	0	0	15	0
chr7	100993793	100993793	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G3230C:p.R1077P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	.	.	.	.	.	.	1.000	N	0	N	2.56	T	-0.960	T	0.013	T	0.075	-1.543	0.015	-1.43	-1.374	-3.324	3.600	0.012	0.00621508415409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.401e-07	2.145e-06	1.666e-06	0	.	0	0	.	.	0	0	4.363e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.16305	T	0.121	0.38305	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.245	0.00777	N	2.56	0.13673	T	0.74	0.02195	N	0.072	0.04547	-0.9602	0.39143	T	0.013	0.05321	T	7	0.043498784	0.03206	T	0.006215	0.16288	T	0.012	0.01476	0.248	0.18447	0.0611884634855	0.05136	0.005906217657864873	0.00559	.	.	0.43521848321	0.29923	T	0.003125	0.02525	T	-0.402733	0.02222	T	-0.816275	0.01529	T	0.0403918094199361	0.03762	T	0.19518	0.02617	T	0.06752166	0.14628	0.06679672	0.13731	0.06752166	0.14627	0.06679672	0.13730	-0.242	0.00516	T	.	.	0.128	0.27222	B	.;.	.;.	-0.934925	0.00869	0.031	0.29610672802724564	0.01579	0.00031	0.00285	N	AEFI	0.033891	0.04103	N	-1.54228350050429	0.01580	0.06903556	-1.7230075608435	0.01039	0.04663319	7.56152405580516E-5	0.04552	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	-1.43	0.08418	-1.643000	0.02106	-8.680000	0.00930	-1.778000	0.00656	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2214:0.4862:0.2924	3.600	0.07567	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1	2373.58	147	chr7	100993793	.	G	A,C	2373.58	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=0.552;DP=2632;ExcessHet=0.6776;FS=5.019;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=29.88;MQRankSum=1.67;QD=3.85;ReadPosRankSum=0.093;SOR=1.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,35,0:206:99:1|0:100993792_C_T:276,0,5323,789,5428,6217:100993792	16	0	3	1
chr7	102467723	102467723	G	A	exonic	LRWD1	.	nonsynonymous SNV	LRWD1:NM_001317721:exon5:c.G122A:p.R41Q	.	.	417	1086	16	3	0	22	0.0100273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.07	B	0.003	B	0.179	N	0.981	N	1.7	L	0.2	T	-1.003	T	0.100	T	0.031	2.509	14.35	-4.02	-0.720	-1.155	11.838	0.094	.	0.0042	0.00279553	0.0073	0.0012	0.0048	0	0	0.0065	0.0155	0.0106	0.0021539	333	154602	rs75691611	0.0063	0.0061	0.0061	0.0065	0.0113	0.0062	0.0062	0.0107	0.0105	0.0013	0.0015	0.0145	2.797e-05	0.0011	0.0035	0.0065	0.0065	0.0113	0.0044	0.0044	0.0048	0.0039	0.0100	0.0041	0.0040	0.0077	0.0069	0.0012	0.0220	0.0022	0.0156	0	0.0011	0	0.0064	0.0033	0.0100	0.143	0.25355	T	0.046	0.49390	D	0.07	0.23866	B	0.003	0.08700	B	0.178910	0.17158	N	0.617387	0.980653	0.25096	N	1.455	0.36767	L	0.2	0.60111	T	-0.24	0.10833	N	0.131	0.12627	-1.0033	0.28963	T	0.100	0.37239	T	10	0.0036244392	0.00066	T	.	.	.	0.094	0.27141	.	.	0.451977122513	0.44822	0.18113014087520377	0.18032	0.0558576121021	0.06173	0.21189725399	0.00894	T	0.002701	0.02096	T	-0.624362	0.00103	T	-0.659242	0.08318	T	0.0122487797161882	0.00198	T	0.810019	0.46084	T	0.035308044	0.04132	0.051805	0.08411	0.035308044	0.04132	0.051805	0.08410	-3.688	0.19141	T	.	.	0.067	0.02342	B	.;.	.;.	1.991604	0.25300	16.71	0.98617556883053192	0.43731	0.07473	0.13489	N	AEFDBCI	0.051330	0.09060	N	-0.918712162103249	0.10404	0.4970483	-0.921791199566853	0.11580	0.5908304	0.998495800390485	0.37071	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.02	-4.02	0.03764	-1.068000	0.03558	-3.470000	0.02762	-0.734000	0.03706	0.092000	0.22623	0.000000	0.08366	0.090000	0.17789	0.7197:0.0:0.2803:0.0	11.838	0.51615	525	0.74024	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	936.98	36	chr7	102467723	.	G	A	936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.929;DP=808;ExcessHet=0.0000;FS=2.037;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-1.980e-01;SOR=0.821	GT:AD:DP:GQ:PL	0/1:30,38:68:99:951,0,649	20	0	1	0
chr7	103565380	103565380	G	C	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon34:c.C5108G:p.P1703R	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	135571	Norman-Roberts_syndrome|not_provided|not_specified|Familial_temporal_lobe_epilepsy_7	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.67	M	1.99	T	-0.865	T	0.137	T	0.883	4.740	26.5	6.02	2.865	9.139	20.541	0.481	0.0567467834204	0.0037	0.00139776	0.0033	0.0007	0.0012	0	0.0068	0.0047	0.0066	0.0009	0.0032018	495	154602	rs2229860	0.0046	0.0046	0.0046	0.0045	0.0052	0.0045	0.0044	0.0051	0.0051	0.0007	0.0018	0.0012	0	0.0068	0.0003	0.0052	0.0039	0.0011	0.0035	0.0035	0.0035	0.0035	0.0057	0.0033	0.0032	0.0052	0.0050	0.0007	0.0011	0.0029	0.0012	0	0.0060	0	0.0057	0.0009	0.0006	0.004	0.65419	D	0.0	0.92824	D	0.999	0.90584	D	0.996	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.94	0.84723	M	1.99	0.21666	T	-4.1	0.74900	D	0.941	0.94786	-0.8654	0.50871	T	0.137	0.45394	T	10	0.023003519	0.00590	T	0.056747	0.66716	D	0.481	0.77142	.	.	0.550389771131	0.54696	0.8173887430551641	0.81695	0.712895479657	0.61788	0.643720090389	0.59093	T	0.541573	0.84313	D	-0.102347	0.36036	T	0.0863241	0.76000	D	0.0299260665632957	0.01977	T	0.936606	0.76191	D	0.46495426	0.64979	0.57886153	0.75594	0.5911003	0.72212	0.6132332	0.77495	-14.572	0.94767	D	0.6050620153603461	0.67228	0.935	0.85485	P	.;.;.	.;.;.	4.810292	0.78248	26.9	0.99868175228066525	0.94637	0.99232	0.93179	D	AEFGBI	0.958308	0.97800	D	0.995813412088824	0.95613	13.79061	0.97736553388868	0.98140	17.52007	0.999999983141739	0.74766	0.536767	0.22168	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.02	6.02	0.97559	9.262000	0.94771	11.889000	0.99041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.541	0.99263	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3514.98	33	chr7	103565380	.	G	C	3514.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.557e+00;DP=1106;ExcessHet=0.0000;FS=1.460;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.411;SOR=0.589	GT:AD:DP:GQ:PL	0/1:123,149:272:99:3529,0,3151	20	0	1	0
chr7	106032431	106032431	G	T	exonic	CDHR3	.	nonsynonymous SNV	CDHR3:NM_001301161:exon18:c.G2128T:p.A710S	.	.	424	1089	9	0	0	9	0.00411523	.	.	1284226	not_provided|Susceptibility_to_nonsyndromic_otitis_media	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.017	B	0.041	B	0.000	D	1.000	D	2.135	M	-0.07	T	-0.863	T	0.170	T	0.325	3.671	18.66	2.66	0.128	3.563	11.801	0.093	0.0124183947836	0.0061	0.00159744	0.0059	0.0015	0.0003	0	0.0065	0.0087	0.0048	0.0035	0.0056662	876	154602	rs140818720	0.0074	0.0074	0.0075	0.0072	0.0085	0.0072	0.0072	0.0083	0.0083	0.0014	0.0013	0.0105	7.572e-05	0.0066	0.0016	0.0085	0.0047	0.0032	0.0053	0.0053	0.0053	0.0054	0.0081	0.0050	0.0049	0.0076	0.0073	0.0013	0.0307	0.0025	0.0101	0	0.0081	0	0.0081	0.0033	0.0025	0.0	0.91255	D	0.0	0.92824	D	0.017	0.17573	B	0.041	0.23986	B	0.000356	0.45440	D	0.096704	1	0.81001	D	2.16	0.60381	M	-0.07	0.63911	T	-1.17	0.29933	N	0.216	0.41754	-0.8629	0.51054	T	0.170	0.51149	T	10	0.0057110786	0.00127	T	0.012418	0.30977	T	0.093	0.26882	.	.	0.333154297509	0.32921	0.13912969761314647	0.13835	0.0490915211193	0.05371	0.307116061449	0.11471	T	0.039745	0.31452	T	-0.368577	0.03667	T	-0.285292	0.46259	T	0.0814544118076626	0.10172	T	0.59724	0.22223	T	0.3269798	0.55223	0.30057478	0.56091	0.3269798	0.55223	0.30057478	0.56090	-8.194	0.62385	D	.	.	0.117	0.28319	B	.;.	.;.	3.691441	0.52601	23.3	0.99596610686664744	0.73925	0.91129	0.52917	D	AEFBI	0.438142	0.49765	N	-0.414010660405101	0.24978	1.352567	-0.294642065279916	0.28275	1.575148	0.995943853816612	0.34425	0.559995	0.30671	0	0.563428	0.19063	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	5.45	2.66	0.30672	3.428000	0.52560	6.599000	0.56050	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0629:0.0:0.714:0.2232	11.801	0.51400	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	0.02381	818.98	34	chr7	106032431	.	G	T	818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.650e-01;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.38;ReadPosRankSum=0.944;SOR=0.711	GT:AD:DP:GQ:PL	0/1:21,29:50:99:833,0,526	20	0	1	0
chr7	107940269	107940269	G	A	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon25:c.C3481T:p.R1161C,	Lissencephaly 5, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	428654	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	3.735	H	-0.04	T	0.357	D	0.567	D	0.81	4.656	25.6	5.4	2.814	5.023	15.034	0.549	0.162162685987	7.7e-05	0.000199681	0.0005	9.615e-05	0.0002	0	0	0.0004	0.0011	0.0020	0.0004528	70	154602	rs146018013	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0015	2.987e-05	0.0001	0.0018	0	0	0.0026	8.903e-05	0.0005	0.0019	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	7.217e-05	0	0	0.0009	0	0	0	0.0002	0.0005	0.0010	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.92359	D	.	.	.	.	1	0.81001	D	4.125	0.97446	H	-0.04	0.63240	T	-6.5	0.91609	D	0.688	0.69913	0.357	0.88449	D	0.567	0.84308	D	9	0.36260283	0.52851	T	0.162163	0.84179	D	0.549	0.81310	.	.	0.819438898917	0.81773	0.8339373263145492	0.83352	0.545644546842	0.51589	0.510067224503	0.40232	T	0.369082	0.73386	T	-0.0771195	0.40180	T	0.109183	0.77519	D	0.582041501998901	0.35697	D	0.973003	0.90263	D	0.53498566	0.69114	0.49559188	0.70829	0.4742811	0.65553	0.48983976	0.70484	-11.082	0.80106	D	.	.	0.283	0.54492	B	.;.	.;.	5.865314	0.93873	33	0.99944533827279425	0.99868	0.90911	0.52495	D	AEFBHCI	0.786360	0.71646	D	0.936951981882765	0.93450	12.04674	0.8533853885205	0.93212	11.89589	0.999999999992788	0.74766	0.730579	0.87903	0	0.546412	0.12157	0	0.697927	0.64325	0	0.648885	0.59868	0	.	.	5.4	5.4	0.77957	5.313000	0.65584	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8574:0.1426	15.034	0.71390	727	0.54702	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2417.98	33	chr7	107940269	.	G	A	2417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.670e-01;DP=870;ExcessHet=0.0000;FS=0.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-2.338e+00;SOR=0.637	GT:AD:DP:GQ:PL	0/1:95,90:185:99:2432,0,2542	20	0	1	0
chr7	113879714	113879714	G	T	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.C1378A:p.Q460K,	Insulin resistance, severe, digenic, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.146	B	0.057	B	0.621	N	1.000	N	1.935	M	2.37	T	-0.972	T	0.060	T	0.19	2.115	13.03	2.95	1.437	0.876	5.207	0.030	0.00955670565151	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1396740251	3.422e-06	5.472e-06	5.448e-06	1.376e-06	0.0001	1e-06	7.3e-07	4.908e-05	3.166e-05	0	0	0	0.0001	0	0	0	0	0	6.585e-06	6.569e-06	1.287e-05	0	6.573e-05	0	0	.	.	0	0	6.573e-05	0	0	0	0	0	0	0	0.004	0.65419	D	0.866	0.48594	T	0.146	0.27821	B	0.057	0.26280	B	0.620980	0.10778	N	0.821133	1	0.08975	N	2.075	0.57047	M	2.37	0.32958	T	-0.66	0.47514	N	0.148	0.15046	-0.9717	0.36841	T	0.060	0.25054	T	10	0.07521218	0.11595	T	0.009557	0.25016	T	0.030	0.07022	0.322	0.30226	0.445210270852	0.44144	0.18262316888964672	0.18181	0.0667487109493	0.07447	0.229203015566	0.01909	T	0.131897	0.46166	T	-0.338822	0.05471	T	-0.555342	0.16816	T	0.075347449265017	0.09381	T	0.612539	0.23323	T	0.124239214	0.29155	0.0885527	0.20653	0.124239214	0.29155	0.0885527	0.20652	-3.131	0.11656	T	.	.	0.088	0.11701	B	.;.	.;.	1.196053	0.15877	12.17	0.87693852200035416	0.17413	0.14088	0.18216	N	AEFBI	0.110884	0.21972	N	-0.706488490639925	0.15839	0.8018076	-0.715074274288545	0.16586	0.8780871	4.82369979583751E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	2.95	0.33285	1.314000	0.33202	5.831000	0.50164	0.676000	0.76740	0.002000	0.15269	0.993000	0.31925	0.490000	0.28791	0.1675:0.1928:0.6397:0.0	5.207	0.14620	801	0.44448	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2204.98	119	chr7	113879714	.	G	T	2204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.918e+00;DP=2879;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=2.54;SOR=0.746	GT:AD:DP:GQ:PL	0/1:73,75:148:99:2219,0,2126	20	0	1	0
chr7	117531068	117531068	T	C	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon4:c.T443C:p.I148T,	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	YES	1	1481	40	0	0	40	0.0133245	.	.	47455	not_provided|CFTR-related_disorder|not_specified|Cystic_fibrosis	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.29	B	0.375	B	0.000	D	1.000	D	0.835	L	-2.45	D	0.195	D	0.680	D	0.679	4.594	25.0	5.73	2.313	7.655	16.314	0.566	0.470015243051	0.0005	0.00139776	0.0019	0	0.0016	0	0	0.0014	0.0045	0.0068	0.0017917	277	154602	rs35516286	0.0015	0.0015	0.0013	0.0017	0.0069	0.0015	0.0015	0.0060	0.0059	0.0002	0.0014	0	0	0.0001	0.0069	0.0013	0.0016	0.0065	0.0010	0.0010	0.0009	0.0012	0.0050	0.0009	0.0008	0.0034	0.0029	0.0001	0	0.0006	0	0	0.0002	0.0034	0.0016	0.0024	0.0050	0.347	0.18246	T	0.002	0.79402	D	0.29	0.32311	B	0.375	0.43710	B	0.000003	0.62929	D	0.101923	1	0.81001	D	0.69	0.16971	N	-2.45	0.91533	D	-0.68	0.19509	N	0.824	0.81957	0.195	0.85830	D	0.680	0.88926	D	9	0.01625809	0.00342	T	0.470015	0.94664	D	0.566	0.82289	.	.	0.998848891978	0.99883	0.9133943498492195	0.91313	0.0037552309061	0.00325	0.52395015955	0.42183	T	0.484044	0.81152	T	-0.124879	0.32329	T	0.0514297	0.73678	D	0.0436109125824296	0.04350	T	0.953805	0.83186	D	0.4518071	0.64155	0.31101498	0.57109	0.41221425	0.61570	0.3604569	0.61487	-4.629	0.34404	T	0.25147133547124706	0.34029	0.122	0.50063	B	.;.;.;.;.	.;.;.;.;.	3.972076	0.58326	24.0	0.99784997268737652	0.87131	0.98240	0.80839	D	AEFDI	0.977344	0.99718	D	0.222097987727501	0.52271	3.40233	0.385256298779943	0.60654	4.25553	0.999999986768859	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	7.608000	0.82114	7.931000	0.75020	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.314	0.82741	791	0.46100	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane 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	0.02381	933.98	33	chr7	117531068	.	T	C	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=797;ExcessHet=0.0000;FS=0.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.90;ReadPosRankSum=1.92;SOR=0.607	GT:AD:DP:GQ:PL	0/1:66,39:105:99:948,0,1685	20	0	1	0
chr7	123662566	123662566	C	T	exonic	LMOD2	.	nonsynonymous SNV	LMOD2:NM_207163:exon2:c.C980T:p.T327M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.953	D	.	.	1.000	D	2.795	M	-3.09	D	0.916	D	0.869	D	0.694	3.474	17.78	5.36	2.666	4.784	14.982	0.715	0.188449975166	.	0.000199681	0.0001	0.0003	8.642e-05	0	0	6.003e-05	0.0011	0.0004	0.0001164	18	154602	rs535251089	7.868e-05	7.867e-05	5.173e-05	0.0001	0.0006	6.667e-05	6.202e-05	0.0004	0.0004	5.974e-05	6.708e-05	0	0	0	0	4.677e-05	0.0001	0.0006	9.196e-05	9.187e-05	0.0001	8.061e-05	0.0006	5.526e-05	4.363e-05	0.0002	9.007e-05	0.0001	0	0	0	0	0	0	8.82e-05	0	0.0006	0.006	0.61437	D	0.001	0.83351	D	1.0	0.90584	D	0.953	0.69275	D	.	.	.	.	0.999848	0.81001	D	2.89	0.83701	M	-3.09	0.92613	D	-5.17	0.83489	D	0.823	0.81857	0.916	0.95905	D	0.869	0.95654	D	9	0.8035284	0.79721	D	0.18845	0.86002	D	0.715	0.89877	.	.	0.846327470452	0.84485	0.6941686664733397	0.69357	0.477529913739	0.46866	0.664684176445	0.62079	T	0.273145	0.64558	T	0.0200971	0.54395	T	0.119052	0.78173	D	0.667023241519928	0.39205	D	0.915808	0.69967	D	0.21920401	0.44447	0.2873815	0.54750	0.21920401	0.44447	0.2873815	0.54749	-12.024	0.84968	D	.	.	0.302	0.53143	B	.	.	4.696217	0.75298	26.3	0.99909312441353337	0.97949	0.95779	0.66118	D	AEFGBCI	0.715599	0.66771	D	0.767369225164428	0.84030	8.175495	0.715941791009613	0.83591	8.061579	0.999999885380282	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.36	5.36	0.76624	4.899000	0.62932	7.637000	0.63009	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.874000	0.41677	0.0:0.8577:0.1423:0.0	14.982	0.70975	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1395.98	45	chr7	123662566	.	C	T	1395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.05;DP=867;ExcessHet=0.0000;FS=1.398;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.557;SOR=0.560	GT:AD:DP:GQ:PL	0/1:89,51:140:99:1410,0,2425	20	0	1	0
chr7	124032406	124032408	GCT	-	exonic	TMEM229A	.	nonframeshift deletion	TMEM229A:NM_001136002:exon1:c.596_598del:p.Q200del,	.	.	414	602	321	84	101	590	0.288836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8600.32	36	chr7	124032402	.	CGCTGCT	C,CGCT	8600.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-6.570e-01;DP=1005;ExcessHet=0.9430;FS=4.707;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=23.50;ReadPosRankSum=0.410;SOR=0.923	GT:AD:DP:GQ:PL	0/1:27,20,0:47:99:760,0,1073,841,1134,1975	13	1	6	0
chr7	127583260	127583260	T	C	exonic	GCC1	.	nonsynonymous SNV	GCC1:NM_024523:exon2:c.A1082G:p.Q361R,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.828	P	0.374	B	0.011	N	0.769	D	1.59	L	2.32	T	-1.023	T	0.043	T	0.127	0.405	6.200	5.18	2.081	0.972	13.306	0.060	0.00503048229	.	.	0.0001	0	0	0	0	0	0	0.0011	0.0001164	18	154602	rs772015214	8.565e-05	8.619e-05	3.271e-05	0.0001	0.0014	7.324e-05	6.827e-05	0.0012	0.0012	0	0	0	0	0	0	9.005e-07	0	0.0014	6.575e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.202	0.20230	T	0.53	0.10103	T	0.828	0.46021	P	0.374	0.43683	B	0.010635	0.29847	N	0.361060	0.769018	0.34128	D	1.67	0.42885	L	2.32	0.16640	T	-0.99	0.26200	N	0.048	0.01999	-1.0231	0.22704	T	0.043	0.18451	T	10	0.037557542	0.02117	T	0.00503	0.12722	T	0.060	0.17295	0.105	0.01753	0.267299060538	0.26338	0.10176165132109803	0.10107	0.312168810141	0.33520	0.484170138836	0.36631	T	0.012781	0.11175	T	-0.558313	0.00260	T	-0.615287	0.11559	T	0.0923934566481575	0.11498	T	0.715028	0.32735	T	0.13332368	0.31015	0.11914806	0.28759	0.13332368	0.31015	0.11914806	0.28758	-4.896	0.35690	T	.	.	0.088	0.11845	B	.	.	2.738437	0.35860	20.1	0.95000992997844558	0.25962	0.59303	0.30878	D	AEFBCI	0.156074	0.28137	N	-0.0332363738308707	0.40354	2.395069	-0.030002995492752	0.38365	2.259374	0.999991373206148	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.18	5.18	0.71140	0.960000	0.28851	7.885000	0.72726	0.665000	0.62972	0.468000	0.26706	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	13.306	0.59792	0	0.99858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1632.98	35	chr7	127583260	.	T	C	1632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.520e+00;DP=878;ExcessHet=0.0000;FS=2.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-1.121e+00;SOR=0.892	GT:AD:DP:GQ:PL	0/1:61,67:128:99:1647,0,1600	20	0	1	0
chr7	131556276	131556276	-	GGCGAC	exonic	PODXL	.	nonframeshift insertion	PODXL:NM_001018111:exon1:c.83_84insGTCGCC:p.S31_Q32insPS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	24221.88	24	chr7	131556270	.	GGGCGAC	G,GGGCGACGGCGAC	24221.88	.	AC=15,13;AF=0.357,0.310;AN=42;BaseQRankSum=0.430;DP=932;ExcessHet=0.0019;FS=0.000;InbreedingCoeff=0.5714;MLEAC=15,13;MLEAF=0.357,0.310;MQ=60.00;MQRankSum=0.00;QD=33.09;ReadPosRankSum=0.348;SOR=0.686	GT:AD:DP:GQ:PL	1/2:0,21,31:52:99:2180,1301,1280,879,0,786	5	3	3	0
chr7	132185330	132185330	C	T	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_020911:exon16:c.G3127A:p.V1043M,	.	.	439	1077	6	0	0	6	0.00277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.359	B	0.133	B	0.003	N	1.000	N	-0.255	N	-1.03	T	-0.828	T	0.122	T	0.172	1.960	12.51	4.7	2.653	1.887	3.924	0.172	0.0247296616752	0.0044	0.00199681	0.0042	0.0020	0.0003	0.0002	0.0080	0.0057	0.0011	0.0031	0.0044437	687	154602	rs117458710	0.0074	0.0074	0.0076	0.0072	0.0086	0.0073	0.0072	0.0085	0.0084	0.0017	0.0009	0.0003	0.0001	0.0073	0.0018	0.0086	0.0071	0.0030	0.0051	0.0051	0.0050	0.0052	0.0076	0.0048	0.0047	0.0071	0.0069	0.0025	0	0.0016	0	0	0.0098	0	0.0076	0.0028	0.0035	0.141	0.25560	T	0.131	0.34596	T	0.359	0.33845	B	0.133	0.33073	B	0.002916	0.35737	N	0.292253	0.521063	0.31569	N	-1.1	0.00987	N	-1.03	0.76430	T	0.26	0.04380	N	0.062	0.03392	-0.8275	0.53461	T	0.122	0.42441	T	10	0.0066788495	0.00151	T	0.02473	0.47716	T	0.172	0.43662	.	.	0.383609287871	0.37977	0.4264179063328939	0.42558	0.785918321015	0.65509	0.407312810421	0.26084	T	0.090363	0.38568	T	-0.430865	0.01464	T	-0.383723	0.35285	T	0.0220636118758631	0.00916	T	0.856214	0.54490	D	0.03066011	0.02769	0.047337417	0.06798	0.03066011	0.02769	0.047337417	0.06797	-4.798	0.34568	T	.	.	0.069	0.03197	B	.;.	.;.	2.418979	0.31099	18.64	0.9925904640330484	0.57155	0.80489	0.40113	D	AEFDBI	0.247847	0.36835	N	-0.165443884981023	0.34580	1.976	0.013105541400632	0.40323	2.404568	0.999669648515842	0.41534	0.562547	0.31514	0	0.573888	0.26702	0	0.608075	0.38828	0	0.635551	0.53088	0	.	.	5.6	4.7	0.58776	1.918000	0.39636	0.167000	0.15474	0.599000	0.40250	1.000000	0.71638	0.005000	0.19230	0.921000	0.45669	0.1283:0.5306:0.2484:0.0927	3.924	0.08754	911	0.21964	IPT domain|IPT domain;IPT domain|IPT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1207.98	33	chr7	132185330	.	C	T	1207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.044e+00;DP=792;ExcessHet=0.0000;FS=2.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=1.83;SOR=0.446	GT:AD:DP:GQ:PL	0/1:47,53:100:99:1222,0,1148	20	0	1	0
chr7	133070168	133070168	C	T	exonic	CHCHD3	.	nonsynonymous SNV	CHCHD3:NM_001317177:exon2:c.G143A:p.R48Q	.	.	588	933	1	0	0	1	0.000535619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.233	B	0.019	B	0.200	N	0.994	N	0	N	0.97	T	-1.042	T	0.042	T	0.39	1.935	12.43	3.63	1.563	1.469	7.663	0.064	0.00372693789545	.	0.000798722	0.0001	0.0011	0.0002	0	0	0	0	6.095e-05	0.0001294	20	154602	rs555810472	3.835e-05	3.831e-05	3.407e-05	4.268e-05	0.0009	3.029e-05	2.722e-05	0.0006	0.0006	0.0009	2.245e-05	0	0	1.873e-05	0	8.095e-06	9.956e-05	0.0001	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	0.0001	0	0	0	0	1.47e-05	0	0	0.67	0.13306	T	0.89	0.03324	T	0.0	0.30696	B	0.001	0.18783	B	0.199935	0.16626	N	0.620952	0.999639	0.23627	N	.	.	.	0.97	0.42502	T	0.12	0.05604	N	0.193	0.21188	-1.0424	0.16592	T	0.042	0.17910	T	10	0.010251075	0.00229	T	0.003727	0.08651	T	0.064	0.18567	.	.	0.363944505237	0.36005	0.14827947587332665	0.14749	0.224213460693	0.24945	0.425208091736	0.28553	T	0.047788	0.27827	T	-0.435655	0.01372	T	-0.439098	0.28910	T	0.0261386656325972	0.01425	T	0.782822	0.41925	T	0.029633377	0.02490	0.03111557	0.01657	0.029633377	0.02489	0.03111557	0.01657	-2.367	0.04935	T	.	.	0.085	0.10014	B	.;.	.;.	2.942921	0.39137	20.9	0.99588051323203497	0.73454	0.50746	0.28734	D	AEFBI	0.118220	0.23127	N	-0.432595764276615	0.24333	1.313183	-0.221872138913767	0.30754	1.734308	0.969399217826526	0.29125	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.5	3.63	0.40741	1.474000	0.35006	2.581000	0.33416	0.599000	0.40250	0.894000	0.31287	0.998000	0.33993	0.665000	0.33109	0.0:0.7489:0.1638:0.0873	7.663	0.27584	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	733.98	33	chr7	133070168	.	C	T	733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.140e-01;DP=747;ExcessHet=0.0000;FS=1.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=0.729;SOR=0.487	GT:AD:DP:GQ:PL	0/1:24,32:56:99:748,0,506	20	0	1	0
chr7	134183816	134183816	C	T	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon11:c.C1297T:p.R433C	.	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	2.795	M	0.94	T	-0.656	T	0.128	T	0.731	4.115	21.2	5.83	2.763	2.707	13.828	0.312	.	0.0056	0.0125799	0.0088	0.0017	0.0030	0.0435	0.0079	0.0076	0.0099	0.0047	0.0087903	1359	154602	rs76794740	0.0094	0.0094	0.0095	0.0093	0.0419	0.0093	0.0092	0.0402	0.0396	0.0014	0.0034	0.0075	0.0419	0.0078	0.0026	0.0092	0.0097	0.0056	0.0068	0.0068	0.0068	0.0069	0.0425	0.0065	0.0064	0.0379	0.0361	0.0016	0.0011	0.0032	0.0072	0.0425	0.0082	0	0.0082	0.0080	0.0031	0.02	0.49613	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000233	0.47286	D	0.135398	0.999649	0.48019	D	2.895	0.83812	M	0.94	0.43672	T	-6.53	0.91741	D	0.384	0.42541	-0.6560	0.62452	T	0.128	0.43645	T	10	0.008742303	0.00198	T	.	.	.	0.312	0.63375	.	.	0.572487460518	0.56915	0.7334607603874982	0.73291	0.35204900141	0.37038	0.555587410927	0.46644	T	0.011838	0.10501	T	-0.303006	0.08379	T	-0.175888	0.56901	T	0.0412372014981922	0.03914	T	0.80432	0.47377	T	0.42267302	0.62269	0.3523191	0.60812	0.42267302	0.62270	0.3523191	0.60811	-9.91	0.73371	D	.	.	0.441	0.61735	A	.;.	.;.	4.975394	0.82369	27.8	0.99931100785188209	0.99387	0.81456	0.40856	D	AEFGBI	0.423587	0.48911	N	0.776100395042629	0.84592	8.330642	0.737109258614694	0.85192	8.507453	0.999996313576133	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	5.83	5.83	0.93059	2.891000	0.48316	5.959000	0.51789	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.1531:0.8468:0.0:0.0	13.828	0.62852	868	0.31772	Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1565.98	49	chr7	134183816	.	C	T	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.740e-01;DP=1009;ExcessHet=0.0000;FS=1.343;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-1.265e+00;SOR=0.865	GT:AD:DP:GQ:PL	0/1:73,68:141:99:1580,0,1712	20	0	1	0
chr7	135737182	135737182	C	T	exonic	FAM180A	.	nonsynonymous SNV	FAM180A:NM_001369697:exon2:c.G94A:p.A32T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.998	D	0.000	D	1.000	D	1.87	L	1.29	T	-0.805	T	0.202	T	0.64	4.652	25.6	5.15	2.574	4.258	16.483	0.105	0.0295373984	7.7e-05	.	6.61e-05	0.0001	0	0	0	8.252e-05	0	8.63e-05	4.53e-05	7	154602	rs138173146	2.89e-05	3.078e-05	2.737e-05	3.044e-05	3.544e-05	2.164e-05	1.919e-05	2.207e-05	1.947e-05	3.033e-05	0	0	0	1.88e-05	0	3.066e-05	5.003e-05	3.544e-05	5.259e-05	5.254e-05	5.141e-05	5.383e-05	7.245e-05	2.558e-05	1.831e-05	1.972e-05	1.124e-05	7.245e-05	0	6.548e-05	0	0	0	0	5.88e-05	0	0	0.07	0.35349	T	0.078	0.42261	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.051589	0.999987	0.54805	D	2.7	0.79018	M	1.29	0.35775	T	-2.71	0.57762	D	0.703	0.70702	-0.8046	0.54873	T	0.202	0.55891	T	10	0.73601365	0.74625	D	0.029537	0.52028	D	0.105	0.29889	.	.	0.296329037015	0.29243	0.5762926326094846	0.57558	0.506681808825	0.48864	0.433946251869	0.29749	T	0.070901	0.34076	T	-0.1437	0.29302	T	-0.260175	0.48807	T	0.712120771408081	0.41304	D	0.716728	0.32905	T	0.18358426	0.39633	0.2626576	0.52060	0.18358426	0.39633	0.2626576	0.52059	-3.608	0.17973	T	.	.	0.314	0.54064	B	.;.	.;.	5.087805	0.84947	28.5	0.99923010679399249	0.98852	0.93229	0.57662	D	AEFDBHCI	0.703893	0.65978	D	0.652444052274339	0.76529	6.503036	0.629012102842566	0.77057	6.606517	0.999999998883097	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	4.586000	0.60695	4.830000	0.45191	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.107000	0.18608	0.0:1.0:0.0:0.0	16.483	0.84016	894	0.26265	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1583.98	36	chr7	135737182	.	C	T	1583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=884;ExcessHet=0.0000;FS=3.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=1.34;SOR=0.451	GT:AD:DP:GQ:PL	0/1:53,63:116:99:1598,0,1151	20	0	1	0
chr7	139961932	139961932	T	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon8:c.T650A:p.F217Y	Ghosal hematodiaphyseal syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.755	M	-0.78	T	0.377	D	0.622	D	0.838	5.229	33	5.83	2.225	7.287	16.194	0.797	0.118854549662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.65419	D	0.009	0.74150	D	0.999	0.77913	D	0.981	0.75168	D	0.000002	0.62929	D	0.137167	1	0.81001	D	.	.	.	-0.78	0.73631	T	-2.52	0.55821	D	0.805	0.80964	0.377	0.88754	D	0.622	0.86676	D	10	0.8634976	0.85581	D	0.118855	0.79901	D	0.797	0.93346	.	.	0.576080139486	0.57276	0.7824215664535177	0.78193	0.585516766391	0.54188	0.626340031624	0.56626	T	0.061885	0.31772	T	0.302104	0.83138	D	0.196175	0.82918	D	0.995323956012726	0.87221	D	0.841416	0.57956	T	.	.	.	.	.	.	.	.	-9.188	0.68899	D	.	.	0.438	0.61623	A	.;.;.;.;.;.	.;.;.;.;.;.	4.784527	0.77582	26.7	0.99667971621945795	0.78394	0.98633	0.84938	D	AEFDBCI	0.949883	0.96298	D	0.840472576154952	0.88558	9.624012	0.804743018025986	0.90121	10.26549	0.999999999889711	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.527494	0.11647	0	0.586402	0.36253	0	.	.	5.83	5.83	0.93059	7.324000	0.78389	6.135000	0.53971	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	16.194	0.81828	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2087.98	33	chr7	139961932	.	T	A	2087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.036e+00;DP=797;ExcessHet=0.0000;FS=0.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.16;ReadPosRankSum=0.076;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,54:109:99:0|1:139961932_T_A:2102,0,2147:139961932	20	0	1	0
chr7	139961933	139961933	C	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon8:c.C651A:p.F217L	Ghosal hematodiaphyseal syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.735	P	0.741	P	0.000	D	1.000	D	1.66	L	-0.49	T	-0.394	T	0.380	T	0.902	2.883	15.61	3.05	0.819	1.024	11.018	0.512	0.0429648966683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.38863	T	0.402	0.18071	T	0.049	0.22227	B	0.101	0.30765	B	0.000002	0.62929	D	0.137167	0.999996	0.58761	D	.	.	.	-0.49	0.70365	T	-4.28	0.79915	D	0.762	0.77789	-0.3939	0.72219	T	0.380	0.73677	T	10	0.6742655	0.70896	D	0.042965	0.60739	D	0.512	0.79094	.	.	0.622533131713	0.61946	0.8524300904484298	0.85205	0.493595668508	0.47958	0.640218019485	0.58595	T	0.071754	0.34286	T	0.287879	0.81980	D	0.175742	0.81748	D	0.966466009616852	0.67591	D	0.937306	0.84069	D	.	.	.	.	.	.	.	.	-5.369	0.40621	T	.	.	0.936	0.85503	P	.;.;.;.;.;.	.;.;.;.;.;.	3.213186	0.43745	21.8	0.99270465576265221	0.57525	0.93630	0.58745	D	AEFDBCI	0.700094	0.65723	D	-0.0382280260162425	0.40130	2.377988	0.0473498609172435	0.41944	2.528518	0.993128772192707	0.33094	0.638212	0.43195	0	0.670034	0.63936	0	0.527494	0.11647	0	0.586402	0.36253	0	.	.	5.83	3.05	0.34272	1.089000	0.30501	0.842000	0.22053	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.992000	0.67800	0.0:0.729:0.0:0.271	11.018	0.46919	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2087.98	33	chr7	139961933	.	C	A	2087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.22;DP=797;ExcessHet=0.0000;FS=0.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.16;ReadPosRankSum=0.052;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,54:109:99:0|1:139961932_T_A:2102,0,2147:139961932	20	0	1	0
chr7	142864297	142864299	CCT	-	exonic	EPHB6	.	nonframeshift deletion	EPHB6:NM_004445:exon7:c.497_499del:p.S177del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	.	0.0030	0.0009	0.0027	0.0001	0.0030	0.0040	0.0023	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	0/1:51,32,0,0:83:99:1148,0,1939,1302,2035,3337,1302,2035,3337,3337	0	16	2	0
chr7	142864299	142864299	-	CCT	exonic	EPHB6	.	nonframeshift insertion	EPHB6:NM_004445:exon7:c.499_500insCCT:p.S177_A178insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	0/1:51,32,0,0:83:99:1148,0,1939,1302,2035,3337,1302,2035,3337,3337	0	16	2	0
chr7	142885440	142885440	C	T	exonic	TRPV6	.	nonsynonymous SNV	TRPV6:NM_018646:exon1:c.G197A:p.R66Q,	.	.	.	.	.	.	.	.	.	.	.	2719436	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.8	T	0.0	B	0.0	B	0.445	N	1.000	N	-0.315	N	-1.03	T	-0.907	T	0.123	T	0.144	-0.456	1.889	-6.37	-1.271	-0.604	6.506	0.167	0.0213606392731	.	0.000199681	8.262e-06	0	0	0	0	0	0	6.143e-05	1.94e-05	3	154602	rs200774945	4.242e-05	4.309e-05	3.131e-05	5.363e-05	0.0003	3.377e-05	3.065e-05	0.0002	0.0002	5.974e-05	0	0	5.039e-05	3.744e-05	0	2.608e-05	6.624e-05	0.0003	1.97e-05	1.969e-05	2.571e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	9.413e-05	0	0	0.0005	0	.	.	.	0.875	0.03268	T	.	.	.	.	.	.	0.444967	0.12580	N	0.715535	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.054	0.02559	-0.9072	0.47191	T	0.123	0.42568	T	10	0.019539982	0.00438	T	0.021361	0.44116	T	0.167	0.42761	.	.	0.229264304666	0.22521	0.08752993444188875	0.08685	0.32387674406	0.34546	0.232261955738	0.02140	T	0.189746	0.54407	T	-0.342162	0.05239	T	-0.454969	0.27149	T	0.0138275906785259	0.00262	T	0.582242	0.21111	T	0.13008045	0.30362	0.10702285	0.25758	0.13008045	0.30362	0.10702285	0.25757	-4.163	0.26214	T	.	.	0.061	0.01075	B	.;.	.;.	0.264463	0.06425	2.897	0.73093449163706281	0.10204	0.00225	0.01265	N	AEFDBI	0.029535	0.02805	N	-1.68576004758736	0.00894	0.03867162	-1.72659315058761	0.01025	0.04595734	0.999940639411115	0.47345	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.67	-6.37	0.01790	-0.561000	0.06048	.	.	-0.894000	0.02369	0.017000	0.19353	0.000000	0.08366	0.707000	0.34357	0.0:0.5608:0.1481:0.2911	6.506	0.21391	705	0.57330	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1335.98	33	chr7	142885440	.	C	T	1335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.728;DP=789;ExcessHet=0.0000;FS=0.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-4.550e-01;SOR=0.826	GT:AD:DP:GQ:PL	0/1:46,50:96:99:1350,0,1210	20	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.08	B	0.074	B	0.948	N	1.000	N	1.69	L	5.65	T	-0.976	T	0.003	T	0.072	-0.179	3.127	-8.61	-1.743	-1.632	6.528	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4409.3	115	chr7	143478290	.	A	G	4409.3	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.767e+00;DP=2442;ExcessHet=30.0624;FS=186.672;InbreedingCoeff=-0.7419;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.01;SOR=12.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,28:143:99:.:.:127,0,2950	3	0	18	0
chr7	149252726	149252726	G	A	exonic	ZNF212	.	nonsynonymous SNV	ZNF212:NM_012256:exon4:c.G562A:p.G188R,	.	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.808	P	0.216	B	0.783	N	0.924	N	0.94	L	3.27	T	-1.073	T	0.017	T	0.2	4.271	22.3	4.89	2.646	1.909	14.284	0.128	0.00229434534071	0.0022	0.000798722	0.0018	0.0009	0.0011	0	0.0021	0.0026	0.0011	0.0006	0.0017852	276	154602	rs141430858	0.0023	0.0023	0.0024	0.0022	0.0040	0.0022	0.0022	0.0027	0.0025	0.0005	0.0014	3.827e-05	2.519e-05	0.0023	0.0040	0.0026	0.0019	0.0006	0.0018	0.0018	0.0019	0.0018	0.0041	0.0016	0.0016	0.0032	0.0030	0.0007	0	0.0041	0	0	0.0014	0	0.0024	0.0014	0.0004	0.635	0.05076	T	0.241	0.24334	T	0.808	0.45299	P	0.216	0.37572	B	0.783486	0.09453	N	0.890661	0.924148	0.27222	N	0.775	0.19437	N	3.27	0.06602	T	0.48	0.03041	N	0.364	0.40565	-1.0725	0.08873	T	0.017	0.07187	T	10	0.0066052377	0.00150	T	0.002294	0.04397	T	0.128	0.35103	0.294	0.25720	0.260249123532	0.25628	0.22909172068056563	0.22824	0.624697044921	0.56669	0.434802174568	0.29866	T	0.005819	0.05268	T	-0.579026	0.00195	T	-0.605663	0.12340	T	0.019224121630004	0.00628	T	0.691931	0.30130	T	0.078681916	0.17931	0.080437385	0.18195	0.078681916	0.17931	0.080437385	0.18195	-4.888	0.35600	T	.	.	0.278	0.51174	B	.	.	3.446654	0.47969	22.5	0.99909460906672376	0.97949	0.88202	0.48025	D	AEFGBI	0.219113	0.34404	N	0.0868613322850342	0.45851	2.834761	0.198294092405926	0.49755	3.174861	0.984104751341964	0.30665	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.89	4.89	0.63387	1.301000	0.33052	11.451000	0.92797	0.676000	0.76740	0.938000	0.32564	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	14.284	0.65783	929	0.16858	Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1571.98	34	chr7	149252726	.	G	A	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.194;DP=800;ExcessHet=0.0000;FS=0.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=-6.000e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/1:48,62:110:99:1586,0,1172	20	0	1	0
chr7	151180968	151180968	C	T	exonic	ASB10	.	nonsynonymous SNV	ASB10:NM_001142459:exon3:c.G1075A:p.V359I	Glaucoma 1, open angle, F	.	337	1168	15	2	0	19	0.00806794	.	.	1217971	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.995	D	0.000	N	0.960	N	0.255	N	-0.25	T	-0.851	T	0.242	T	0.131	0.696	7.713	4.24	1.272	1.927	6.877	0.175	.	0.0003	0.0205671	0.0144	0.0006	0.0010	0	0	0.0005	0.0172	0.1226	0.0082793	1280	154602	rs201566253	0.0044	0.0044	0.0024	0.0064	0.0685	0.0043	0.0042	0.0670	0.0664	0.0002	7.314e-05	0	0.0007	0.0001	0.0019	0.0002	0.0049	0.0685	0.0024	0.0024	0.0015	0.0033	0.0703	0.0022	0.0021	0.0641	0.0617	0.0003	0	6.533e-05	0	0.0002	0	0	0.0001	0.0009	0.0703	0.475	0.08917	T	0.686	0.18505	T	0.985	0.61118	D	0.486	0.51761	P	0.000031	0.55875	N	0.122857	0.959583	0.26180	N	0.27	0.09956	N	-0.31	0.68030	T	-0.49	0.18042	N	0.227	0.26354	-0.8513	0.51878	T	0.242	0.61071	T	10	0.0025051832	0.00038	T	.	.	.	0.175	0.44197	.	.	0.337868961071	0.33390	0.0969552435596108	0.09627	0.0568891413586	0.06287	0.655414581299	0.60755	T	0.01083	0.09734	T	-0.533977	0.00364	T	-0.487148	0.23689	T	0.0284593719318178	0.01756	T	0.792821	0.49290	T	0.02369536	0.01131	0.034526173	0.02536	0.028732017	0.02255	0.034526173	0.02535	-6.419	0.49657	T	.	.	0.145	0.33389	B	.;.;.	.;.;.	1.927288	0.24478	16.41	0.9793777323641083	0.37006	0.68740	0.33917	D	AEFDBHCI	0.100005	0.20118	N	0.000967980602212599	0.41900	2.514552	-0.0148498884879075	0.39044	2.309081	0.999462771702338	0.39843	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.12	4.24	0.49486	1.960000	0.40046	3.869000	0.40177	0.549000	0.26987	0.965000	0.33920	1.000000	0.68203	0.013000	0.09966	0.0:0.6944:0.1453:0.1603	6.877	0.23331	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1148.98	35	chr7	151180968	.	C	T	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.504e+00;DP=1401;ExcessHet=0.0000;FS=0.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=-3.060e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/1:72,52:124:99:1163,0,1843	20	0	1	0
chr7	151781320	151781320	C	T	exonic	PRKAG2	.	nonsynonymous SNV	PRKAG2:NM_001040633:exon3:c.G166A:p.G56S	Cardiomyopathy, hypertrophic 6, Autosomal dominant;Glycogen storage disease of heart, lethal congenital, Autosomal dominant;Wolff-Parkinson-White syndrome, ?Autosomal dominant	.	0	1484	38	0	0	38	0.0126414	.	.	45358	not_provided|Renal_cysts_and_diabetes_syndrome|Cardiomyopathy|PRKAG2_cardiac_syndrome|Lethal_congenital_glycogen_storage_disease_of_heart|Wolff-Parkinson-White_pattern|not_specified|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_6	MedGen:C3661900|MONDO:MONDO:0007669,MedGen:C0431693,OMIM:137920,Orphanet:93111|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN221579|MONDO:MONDO:0009867,MedGen:C1849813,OMIM:261740,Orphanet:439854|Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200,Orphanet:907|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010946,MedGen:C1833236,OMIM:600858	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.907	P	0.205	B	0.001	N	1.000	D	0.975	L	-1.98	D	-0.503	T	0.157	T	0.206	2.766	15.21	4.08	1.081	2.008	12.384	0.730	.	0.0008	0.0145767	0.0081	0.0006	0.0010	0.0355	0	0.0008	0.0101	0.0358	0.0071409	1104	154602	rs79474211	0.0043	0.0043	0.0035	0.0052	0.0541	0.0042	0.0042	0.0522	0.0514	0.0018	0.0011	0.0010	0.0541	0.0002	0.0140	0.0005	0.0066	0.0348	0.0031	0.0031	0.0024	0.0038	0.0360	0.0029	0.0028	0.0318	0.0301	0.0007	0.0099	0.0010	0.0009	0.0360	0	0.0205	0.0007	0.0052	0.0343	0.109	0.46129	T	0.14	0.33554	T	0.907	0.50062	P	0.205	0.37080	B	0.001201	0.39820	N	0.232951	0.998981	0.45816	D	1.405	0.35469	L	-1.98	0.87989	D	-0.82	0.23156	N	0.257	0.29313	-0.5035	0.68523	T	0.157	0.48959	T	10	0.0072490573	0.00165	T	.	.	.	0.730	0.90545	.	.	0.708777450051	0.70623	0.2238368867238497	0.22298	0.13916893508	0.15685	0.522185921669	0.41933	T	0.054731	0.29808	T	-0.388771	0.02740	T	-0.281752	0.46623	T	0.0104251597581125	0.00143	T	0.70393	0.31399	T	0.12016292	0.28280	0.119865134	0.28929	0.11875115	0.27972	0.1156467	0.27917	-2.981	0.10310	T	.	.	0.079	0.07985	B	.;.	.;.	2.751296	0.36062	20.2	0.99634586419861892	0.76264	0.62343	0.31753	D	AEFDBI	0.201863	0.32850	N	0.0362395582159843	0.43511	2.642547	0.0820868581914568	0.43649	2.66225	0.99962048104306	0.41093	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	4.96	4.08	0.46880	2.059000	0.41010	0.536000	0.19291	0.580000	0.29708	0.946000	0.32893	0.079000	0.22353	0.252000	0.23314	0.0:0.9185:0.0:0.0815	12.384	0.54652	450	0.79359	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1971.98	44	chr7	151781320	.	C	T	1971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.000e-03;DP=906;ExcessHet=0.0000;FS=1.937;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=-2.100e-02;SOR=0.532	GT:AD:DP:GQ:PL	0/1:86,80:166:99:1986,0,2137	20	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,	.	YES	526	320	669	7	0	683	0.516251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	U	1.000	D	2.11	M	-2.28	D	0.656	D	0.754	D	0.82	3.081	16.29	4.67	1.866	9.283	14.405	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	21206.9	371	chr7	152229940	.	A	G	21206.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-6.890e-01;DP=6803;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=44.68;MQRankSum=0.452;QD=3.93;ReadPosRankSum=0.208;SOR=0.720	GT:AD:DP:GQ:PL	0/1:353,57:410:99:344,0,13726	4	0	17	0
chr8	1928596	1928596	C	T	exonic	ARHGEF10	.	nonsynonymous SNV	ARHGEF10:NM_001308152:exon23:c.C2753T:p.P918L	.	.	2	1519	1	0	0	1	0.000329056	.	.	1608476	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.002	B	0.005	B	0.504	N	1.000	N	0.895	L	0.44	T	-1.016	T	0.101	T	0.142	1.214	9.927	1.12	0.646	-0.119	2.444	0.104	0.0268117044007	.	0.000399361	0.0003	0	0	0	0	0	0	0.0024	0.0002846	44	154602	rs201570359	0.0002	0.0002	9.937e-05	0.0002	0.0022	0.0002	0.0001	0.0019	0.0018	8.961e-05	0	0	2.519e-05	0	0.0007	3.777e-05	0.0003	0.0022	9.848e-05	9.843e-05	8.995e-05	0.0001	0.0023	6.002e-05	4.876e-05	0.0013	0.0010	0	0	0	0	0	0	0	5.881e-05	0	0.0023	0.335	0.15717	T	0.264	0.25061	T	0.001	0.09854	B	0.005	0.11217	B	0.503610	0.05107	N	1.272520	1	0.08975	N	0.115	0.08564	N	0.35	0.58029	T	-1.54	0.38540	N	0.136	0.13341	-1.0158	0.25078	T	0.101	0.37366	T	10	0.0065864027	0.00149	T	0.026812	0.49685	D	0.104	0.29647	.	.	0.414930877219	0.41105	0.1391604207910341	0.13839	0.0336607308792	0.03534	0.253993153572	0.04201	T	0.034927	0.23517	T	-0.533141	0.00368	T	-0.544764	0.17831	T	0.0144958291940428	0.00295	T	.	.	.	0.021327091	0.00730	0.023897149	0.00403	0.022993272	0.01004	0.023864247	0.00400	-4.961	0.37078	T	.	.	0.070	0.04558	B	.;.;.;.;.	.;.;.;.;.	0.952511	0.13286	9.789	0.76838045105577679	0.11630	0.05239	0.11072	N	AEFDGBI	0.054315	0.09866	N	-0.892198221850078	0.11026	0.5299775	-0.906590295836385	0.11939	0.6112622	0.989483526423624	0.31841	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	1.12	0.19700	-0.114000	0.10729	-1.068000	0.06430	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2433:0.3316:0.3171:0.108	2.444	0.04226	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1849.98	33	chr8	1928596	.	C	T	1849.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.715;DP=860;ExcessHet=0.0000;FS=0.634;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=-2.420e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/1:62,76:138:99:1864,0,1374	20	0	1	0
chr8	7972780	7972780	C	G	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.G474C:p.Q158H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.457e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	3.09	0.87444	M	.	.	.	.	.	.	0.207	0.22998	.	.	.	.	.	.	.	0.21676353	0.38268	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.12003012661667468	0.11930	.	.	0.574879229069	0.49366	T	0.136586	0.46904	T	0.0838972	0.62493	D	-0.117264	0.62025	T	.	.	.	0.992876	0.97681	D	0.04902394	0.08640	0.11124017	0.26832	0.04902394	0.08639	0.11124017	0.26831	-9.695	0.72066	D	.	.	0.594	0.68615	P	.	.	2.728952	0.35717	19.97	0.44140853230365074	0.03372	0.13314	0.17786	N	AEFI	.	.	.	.	.	.	.	.	.	1.23722078219162E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0790037	0.18180	0.45	-0.9	0.10008	-0.449000	0.06885	-0.898000	0.07002	0.270000	0.18506	0.409000	0.26241	0.134000	0.23028	0.047000	0.14932	0.0:0.4381:0.0:0.5619	4.057	0.09299	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	75.28	34	chr8	7972780	.	C	G	75.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.00;DP=182;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.250;MQ=36.06;MQRankSum=1.38;QD=18.82;ReadPosRankSum=0.674;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:7972780_C_G:78,0,78:7972780	5	0	1	15
chr8	7972787	7972787	C	T	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.G467A:p.G156D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423781450	0	9.714e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.31527	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.965	0.53209	M	.	.	.	.	.	.	0.093	0.07262	.	.	.	.	.	.	.	0.11264664	0.21137	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.014341871383881275	0.01391	.	.	0.586937189102	0.51062	T	0.024591	0.18549	T	-0.0944303	0.37345	T	-0.373419	0.36491	T	.	.	.	0.272873	0.04620	T	0.06512142	0.13886	0.12666449	0.30502	0.06512142	0.13886	0.12666449	0.30501	-9.576	0.71331	D	.	.	0.122	0.25331	B	.	.	1.001330	0.13799	10.35	0.65011764429199626	0.07653	0.14824	0.18604	N	AEFI	.	.	.	.	.	.	.	.	.	2.18764663578692E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0790037	0.18180	0.45	-0.9	0.10008	0.031000	0.13598	-0.273000	0.10332	-0.735000	0.03699	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.7213:0.0:0.2787	4.901	0.13128	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	74.39	34	chr8	7972787	.	C	T	74.39	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.00;DP=183;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.143;MQ=36.06;MQRankSum=1.38;QD=18.60;ReadPosRankSum=0.674;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:7972780_C_G:78,0,78:7972780	6	0	1	14
chr8	7976422	7976422	T	A	exonic	USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.A1564T:p.S522C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.173	0.18512	.	.	.	.	.	.	.	0.11966199	0.22650	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	0.025718632482295337	0.02522	.	.	0.571729838848	0.48923	T	0.024715	0.18622	T	-0.112446	0.34364	T	-0.399298	0.33465	T	.	.	.	0.614838	0.23473	T	0.15158091	0.34451	0.19368686	0.42951	0.15158091	0.34451	0.19368686	0.42950	-4.82	0.34823	T	.	.	0.065	0.01986	B	.	.	2.236873	0.28564	17.84	0.80516811229668028	0.13240	0.00130	0.00805	N	AEFI	.	.	.	.	.	.	.	.	.	1.42000476666978E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0448725	0.03863	0.361	-0.721	0.10625	0.253000	0.18066	-4.259000	0.02252	-0.354000	0.05547	0.144000	0.23566	0.000000	0.08366	0.001000	0.02609	.	.	.	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	43.37	34	chr8	7976422	.	T	A	43.37	.	AC=2;AF=0.200;AN=10;DP=111;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.300;MQ=37.00;QD=21.69;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	16
chr8	8377353	8377364	GCCGCTGCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1056del:p.S349_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1275152506	0.0002	0.0002	0.0003	0.0002	0.0066	0.0002	0.0002	0.0058	0.0056	0.0066	0.0003	0	7.61e-05	0	0	3.646e-05	0.0005	0.0001	0.0017	0.0017	0.0017	0.0017	0.0059	0.0015	0.0015	0.0053	0.0050	0.0059	0	0.0004	0	0	9.557e-05	0	7.393e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/2:31,0,36:67:99:1420,1513,2775,0,1262,1152	7	0	1	0
chr8	8377359	8377364	GCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1050del:p.S351_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0072	0.0009	0.0003	0.0003	5.986e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/2:31,0,36:67:99:1420,1513,2775,0,1262,1152	7	0	1	0
chr8	10610141	10610141	-	CCCTCTTCTT	exonic	RP1L1	.	frameshift insertion	RP1L1:NM_178857:exon4:c.3956_3957insAAGAAGAGGG:p.V1320Rfs*10,	Occult macular dystrophy, Autosomal dominant	.	22	1378	107	10	5	132	0.0440513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0008	0	0	0	0.0002	0	0.0002	7.68e-05	2	26028	.	0.0015	0.0018	0.0014	0.0015	0.0036	0.0014	0.0014	0.0031	0.0029	0.0036	0.0014	0.0082	0.0007	0.0030	0.0022	0.0012	0.0027	0.0010	0.0026	0.0033	0.0025	0.0027	0.0041	0.0024	0.0023	0.0036	0.0034	0.0041	0	0.0023	0.0117	0.0006	0.0006	0.0171	0.0019	0.0024	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3228.94	398	chr8	10610141	.	C	CCCCTCTTCTT	3228.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.581e+00;DP=6806;ExcessHet=0.0000;FS=0.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.39;MQRankSum=-5.091e+00;QD=8.52;ReadPosRankSum=-2.980e-01;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,115:379:99:0|1:10610141_C_CCCCTCTTCTT:3243,0,9899:10610141	20	0	1	0
chr8	17027610	17027610	C	T	exonic	MICU3	.	nonsynonymous SNV	MICU3:NM_001349810:exon1:c.C331T:p.P111S	.	.	396	1078	41	7	0	55	0.0248756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.093	B	0.029	B	0.403	N	1.000	N	0.205	N	0.96	T	-1.021	T	0.048	T	0.094	0.408	6.215	2.43	0.975	0.039	8.086	0.013	.	.	0.00738818	0.1094	0	0.5	.	.	0.0789	.	0.1667	0.0013454	208	154602	rs200500624	0.0069	0.0065	0.0066	0.0072	0.0275	0.0068	0.0067	0.0262	0.0256	0.0009	0.0029	0.0306	0.0001	0.0049	0.0154	0.0060	0.0080	0.0275	0.0054	0.0054	0.0050	0.0058	0.0230	0.0051	0.0050	0.0195	0.0182	0.0011	0	0.0047	0.0323	0	0.0038	0.0034	0.0062	0.0071	0.0230	0.125	0.27310	T	0.603	0.07868	T	0.093	0.25333	B	0.029	0.21540	B	0.402710	0.13103	N	0.660243	1	0.08975	N	0.55	0.14455	N	0.96	0.42888	T	0.18	0.05035	N	0.173	0.18512	-1.0207	0.23486	T	0.048	0.20592	T	10	0.0014694929	0.00016	T	.	.	.	0.013	0.01715	.	.	0.0482279557977	0.04254	0.3599911044625781	0.35913	0.837194812772	0.67860	0.707130551338	0.68177	T	0.010703	0.09641	T	-0.530585	0.00381	T	-0.519989	0.20296	T	0.0405243162023735	0.03785	T	0.613539	0.23382	T	0.035434525	0.04169	0.07964865	0.17948	0.035434525	0.04168	0.07964865	0.17948	-3.528	0.16826	T	.	.	0.069	0.03231	B	.	.	1.446864	0.18675	13.86	0.89330916088496692	0.18705	0.02607	0.07180	N	AEFDBHCIJ	0.030292	0.03020	N	-1.24428004204296	0.04375	0.1973425	-1.2315283229291	0.05410	0.2577218	0.999999648656108	0.74766	0.009712	0.00066	3	0.435331	0.06439	0	0.239995	0.05000	1	0.621717	0.48901	0	.	.	3.31	2.43	0.28797	0.122000	0.15515	0.668000	0.20568	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.2414:0.7586:0.0:0.0	8.086	0.29935	829	0.39537	.	.	.	.	.	.	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	0.09524	1684.9	25	chr8	17027610	.	C	T	1684.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.42;DP=617;ExcessHet=0.0082;FS=0.862;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=0.615;SOR=0.820	GT:AD:DP:GQ:PL	0/1:8,23:31:99:523,0,176	18	1	2	0
chr8	19505333	19505333	C	T	exonic	CSGALNACT1	.	nonsynonymous SNV	CSGALNACT1:NM_001354497:exon2:c.G502A:p.E168K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.999	D	0.971	D	0.000	D	1.000	D	2.31	M	2.45	T	-1.031	T	0.106	T	0.86	5.378	34	5.74	2.873	7.409	18.861	0.287	0.0728134589849	.	0.000199681	9.894e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs548865058	2.736e-05	2.805e-05	9.529e-06	4.538e-05	0.0004	2.062e-05	1.816e-05	0.0003	0.0003	0	0	0	0	0	0.0002	8.993e-07	6.623e-05	0.0004	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.155	0.24183	T	0.186	0.28860	T	0.999	0.77913	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.755	0.80505	M	2.45	0.15028	T	-1.52	0.36980	N	0.793	0.82257	-1.0313	0.20034	T	0.106	0.38734	T	10	0.4392299	0.57993	T	0.072813	0.71628	D	0.287	0.60574	0.404	0.43573	0.266843984389	0.26308	0.7895882055827058	0.78910	0.142100849321	0.16023	0.820055961609	0.85036	D	0.065967	0.32824	T	-0.0981112	0.36739	T	-0.029275	0.68417	D	0.77948272228241	0.45018	D	0.972903	0.90223	D	0.34677696	0.56815	0.3239626	0.58324	0.37515536	0.58964	0.3236516	0.58294	-6.068	0.46844	T	.	.	0.726	0.74047	P	.;.;.	.;.;.	5.375178	0.90099	31	0.99934185426127542	0.99535	0.97941	0.78296	D	AEFGBI	0.909532	0.86629	D	0.668746817452122	0.77585	6.703416	0.686158913915395	0.81326	7.500837	0.999999999999999	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.491896	0.07777	0	.	.	5.74	5.74	0.90070	7.535000	0.80919	5.983000	0.52202	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	18.861	0.92242	944	0.12746	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2274.98	94	chr8	19505333	.	C	T	2274.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.641;DP=1736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.913;SOR=0.691	GT:AD:DP:GQ:PL	0/1:88,92:180:99:2289,0,2027	20	0	1	0
chr8	25506827	25506827	C	T	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon14:c.C2116T:p.R706C	.	.	.	.	.	.	.	.	.	.	.	3425214	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.067	B	0.006	B	0.512	N	1.000	N	0	N	1.47	T	-1.022	T	0.040	T	0.092	1.174	9.778	1.87	0.603	0.190	5.931	0.022	0.0129548661692	0.0010	0.000599042	0.0007	0.0020	0.0004	0	0.0002	0.0007	0.0045	0.0004	0.0006145	95	154602	rs73550864	0.0004	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	0.0016	0.0003	0.0018	0	9.365e-05	0.0035	0.0003	0.0009	0.0005	0.0005	0.0005	0.0006	0.0004	0.0009	0.0004	0.0004	0.0007	0.0006	0.0009	0	0.0003	0.0012	0	0	0	0.0003	0.0014	0.0006	0.096	0.31834	T	0.138	0.34716	T	0.067	0.23653	B	0.006	0.12133	B	0.511513	0.05149	N	1.257310	1	0.08975	N	0	0.06538	N	1.47	0.31987	T	-1.56	0.37759	N	0.053	0.03175	-1.0224	0.22932	T	0.040	0.17020	T	10	0.0053226054	0.00117	T	0.012955	0.31963	T	0.022	0.04323	.	.	0.344251166708	0.34027	0.20876414522789727	0.20792	0.138224808436	0.15579	0.20507876575	0.00619	T	0.005638	0.11803	T	-0.587662	0.00173	T	-0.652291	0.08794	T	0.00884091737204419	0.00109	T	0.653235	0.26349	T	0.08120971	0.18648	0.042235732	0.04983	0.08120971	0.18648	0.042235732	0.04983	-4.02	0.24102	T	.	.	0.094	0.21803	B	.;.	.;.	1.360468	0.17692	13.31	0.67294041449480724	0.08312	0.03567	0.08776	N	AEFBI	0.081223	0.16433	N	-0.939428263997108	0.09931	0.4722732	-0.923687729686735	0.11535	0.5882812	0.999733814309829	0.42341	0.732398	0.92422	0	0.724815	0.89359	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	5.07	1.87	0.24559	0.207000	0.17194	-0.002000	0.13189	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.066000	0.16387	0.0:0.4885:0.3913:0.1202	5.931	0.18375	925	0.17918	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1355.98	45	chr8	25506827	.	C	T	1355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.668;DP=936;ExcessHet=0.0000;FS=0.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-1.172e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1370,0,1286	20	0	1	0
chr8	28527857	28527857	A	C	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.A1097C:p.Y366S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.998	D	0.000	D	1.000	D	1.01	L	-1.48	T	-0.003	T	0.531	D	0.963	3.136	16.48	5.11	1.919	9.339	13.703	0.733	0.112536711528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.229	0.25210	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-1.48	0.81150	T	-3.36	0.66549	D	0.892	0.89131	-0.0033	0.82188	T	0.531	0.82597	D	10	0.86584103	0.85828	D	0.112537	0.79072	D	0.733	0.90677	0.506	0.60078	0.910978530935	0.91008	0.82420749831174	0.82378	1.94513251559	0.93320	0.79725664854	0.81546	T	0.709163	0.91690	D	0.387863	0.89198	D	0.319362	0.89062	D	0.984737694263458	0.75947	D	0.861414	0.55526	D	0.50037515	0.67117	0.37308556	0.62503	0.50037515	0.67118	0.37308556	0.62503	-7.107	0.54811	T	.	.	0.467	0.63338	A	.;.	.;.	4.849540	0.79257	27.1	0.98881879482698976	0.47841	0.98876	0.88035	D	AEFGBI	0.912067	0.87221	D	0.628358452111575	0.74975	6.224987	0.647031843081357	0.78390	6.86662	0.999999906386	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.703	0.62101	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	2023.96	49	chr8	28527857	.	A	C	2023.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.128e+00;DP=3491;ExcessHet=6.1002;FS=238.297;InbreedingCoeff=-0.3837;MLEAC=11;MLEAF=0.306;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=3.10;SOR=12.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,41:179:99:.:.:104,0,2910	8	0	10	3
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.988	D	0.869	P	0.000	D	1.000	D	2.115	M	0.93	T	-0.886	T	0.159	T	0.906	4.104	21.1	0.193	0.076	0.581	10.624	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;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	935.59	59	chr8	28780872	.	G	C	935.59	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.284e+00;DP=1729;ExcessHet=4.7172;FS=229.301;InbreedingCoeff=-0.2916;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-6.400e-02;SOR=11.592	GT:AD:DP:GQ:PL	0/1:85,26:111:65:65,0,1648	12	0	9	0
chr8	32722003	32722003	A	G	exonic	NRG1	.	startloss	NRG1:NM_001159996:exon1:c.A1G:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	D	.	.	2.4	T	-1.079	T	0.039	T	0.323	0.945	8.854	2.28	0.949	1.043	6.973	0.050	0.0505290386775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.06	0.20523	T	-0.07	0.08033	N	0.427	0.46649	-1.0795	0.07446	T	0.039	0.16720	T	8	0.40556931	0.55868	T	0.050529	0.64278	D	0.050	0.13987	0.729	0.86286	0.402330500708	0.39847	.	.	.	.	.	.	.	0.240727	0.60911	T	-0.160131	0.26741	T	-0.467794	0.25753	T	0.231429532170296	0.22019	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	1.421829	0.18386	13.71	0.96071650006009179	0.28626	0.06446	0.12453	N	AEFGBCI	0.039092	0.05628	N	-0.326093426063835	0.28160	1.550943	-0.242092747849413	0.30045	1.688316	0.999999079601348	0.74766	0.541725	0.22260	1	0.573888	0.26702	0	0.459889	0.06779	1	0.631631	0.49550	0	.	.	4.94	2.28	0.27583	1.200000	0.31854	4.865000	0.45508	0.750000	0.87069	0.957000	0.33433	1.000000	0.68203	0.728000	0.35033	0.6108:0.0:0.0:0.3892	6.973	0.23840	838	0.37812	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1126.98	34	chr8	32722003	.	A	G	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.549;DP=773;ExcessHet=0.0000;FS=0.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.264;SOR=0.582	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1141,0,1176	20	0	1	0
chr8	37965965	37965965	A	G	exonic	ADRB3	.	nonsynonymous SNV	ADRB3:NM_000025:exon1:c.T505C:p.S169P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.88	H	0.88	T	0.033	D	0.378	T	0.96	4.670	25.7	4.36	1.956	8.967	13.659	0.765	0.31155682712	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs764367690	9.215e-06	1.026e-05	5.606e-06	1.291e-05	8.714e-05	5.14e-06	3.96e-06	4.013e-05	2.821e-05	0	0	0	0	0	0	5.527e-06	0	8.714e-05	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	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	3.21	0.89262	M	0.88	0.46028	T	-4.99	0.82221	D	0.939	0.94550	0.033	0.82916	D	0.378	0.73580	T	10	0.94898206	0.94230	D	0.311557	0.91201	D	0.765	0.92046	0.83	0.93978	0.924554785374	0.92379	0.9866312725375028	0.98656	2.17599700771	0.95535	0.794633746147	0.81147	T	0.354338	0.72150	T	0.149176	0.69191	D	0.213173	0.83826	D	0.971774458885193	0.69444	D	0.963204	0.86318	D	0.9834827	0.99364	0.98515	0.99926	0.9834827	0.99364	0.98515	0.99926	-12.462	0.87028	D	.	.	0.632	0.70190	P	.	.	5.245289	0.88060	29.5	0.99859717526463398	0.93820	0.97669	0.76290	D	AEFDBHCI	0.975341	0.99613	D	0.880637659365503	0.90779	10.56193	0.759775574007842	0.86884	9.035078	0.999999999996798	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.36	4.36	0.51643	9.207000	0.94192	9.081000	0.78717	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	1.0:0.0:0.0:0.0	13.659	0.61829	589	0.68969	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2310.98	40	chr8	37965965	.	A	G	2310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=949;ExcessHet=0.0000;FS=4.026;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=-2.060e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/1:60,81:141:99:2325,0,1588	20	0	1	0
chr8	47934063	47934063	G	A	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon15:c.C1525T:p.R509C	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	562467	not_specified|Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency	MedGen:CN169374|MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.003	B	0.004	B	0.340	N	1.000	N	.	.	4.33	T	-0.940	T	0.009	T	0.133	1.689	11.61	2.69	0.657	0.578	5.968	0.019	0.0201114939206	8.3e-05	0.000199681	0.0003	0	0.0003	0	0	0.0002	0.0011	0.0009	0.0002393	37	154602	rs147314874	0.0003	0.0003	0.0002	0.0003	0.0021	0.0003	0.0003	0.0012	0.0009	2.988e-05	0.0001	0.0003	0	0	0.0021	0.0002	0.0004	0.0011	0.0001	0.0001	0.0001	0.0001	0.0002	8.166e-05	6.723e-05	0.0001	9.901e-05	2.407e-05	0	6.539e-05	0.0003	0	0	0	0.0002	0.0009	0	0.177	0.22224	T	0.19	0.28482	T	0.002	0.11197	B	0.002	0.10090	B	0.340080	0.04182	N	1.440930	1	0.08975	N	.	.	.	4.33	0.02538	T	-0.79	0.21860	N	0.323	0.36779	-0.9398	0.42648	T	0.009	0.03054	T	9	0.02349329	0.00616	T	0.020111	0.42635	T	0.019	0.03383	.	.	0.23798241625	0.23396	0.1732854160090424	0.17248	0.635647164281	0.57374	0.241708546877	0.02946	T	0.075371	0.35161	T	-0.595671	0.00155	T	-0.693172	0.06207	T	0.036937261446488	0.03144	T	0.687331	0.29630	T	0.14550202	0.33351	0.035709176	0.02875	0.14550202	0.33350	0.035709176	0.02875	-4.643	0.32707	T	.	.	0.088	0.11461	B	.;.	.;.	1.884254	0.23932	16.21	0.9483051374439202	0.25609	0.15991	0.19179	N	AEFBI	0.058660	0.11023	N	-0.758588514545695	0.14401	0.7170613	-0.776090216856778	0.15082	0.7914311	0.110805297588497	0.16643	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.52	2.69	0.30923	0.644000	0.24455	0.757000	0.21283	0.671000	0.69459	0.000000	0.06391	0.000000	0.08366	0.132000	0.19645	0.2291:0.1411:0.6298:0.0	5.968	0.18568	542	0.72843	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1455.98	42	chr8	47934063	.	G	A	1455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=901;ExcessHet=0.0000;FS=3.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=-5.950e-01;SOR=1.106	GT:AD:DP:GQ:PL	0/1:48,57:105:99:1470,0,1046	20	0	1	0
chr8	52656666	52656666	C	T	exonic	RB1CC1	.	nonsynonymous SNV	RB1CC1:NM_001083617:exon15:c.G3163A:p.D1055N	Breast cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.999	D	0.913	D	0.000	D	1.000	D	1.04	L	3.81	T	-1.020	T	0.030	T	0.101	4.271	22.3	5.4	2.705	7.136	19.544	0.214	0.0109439649547	.	0.000599042	0.0008	0	8.663e-05	0	0	0	0	0.0055	0.0006274	97	154602	rs373240041	0.0003	0.0003	0.0002	0.0004	0.0049	0.0003	0.0003	0.0045	0.0044	2.987e-05	0	0	0	0	0	0	0.0003	0.0049	0.0001	0.0001	6.424e-05	0.0002	0.0039	8.659e-05	7.252e-05	0.0026	0.0021	2.405e-05	0	0	0	0	0	0	0	0	0.0039	0.003	0.68238	D	0.014	0.62352	D	0.998	0.77913	D	0.82	0.64886	P	0.000000	0.84330	D	0.048419	1	0.81001	D	2.38	0.68558	M	3.81	0.03754	T	-0.11	0.08653	N	0.368	0.40963	-1.0205	0.23551	T	0.030	0.13067	T	10	0.005777091	0.00129	T	0.010944	0.28041	T	0.214	0.50650	0.07	0.00395	0.544095356242	0.54064	0.15024467134641303	0.14946	0.659773731365	0.58824	0.588257193565	0.51248	T	0.357976	0.72461	T	-0.52213	0.00428	T	-0.521689	0.20123	T	0.229214303869153	0.21914	T	0.919908	0.71037	D	0.286185	0.51636	0.22710465	0.47710	0.29867014	0.52785	0.24412848	0.49871	-4.457	0.30322	T	.	.	0.167	0.48261	B	.;.	.;.	4.275620	0.65092	24.8	0.99914016060464228	0.98238	0.98962	0.89228	D	AEFBI	0.858830	0.77641	D	0.583546512434683	0.72149	5.760326	0.6227100287078	0.76593	6.519642	0.999999999850515	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.4	5.4	0.77957	7.197000	0.77336	7.657000	0.64017	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	19.544	0.95276	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1321.98	37	chr8	52656666	.	C	T	1321.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.459;DP=789;ExcessHet=0.0000;FS=0.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=0.671;SOR=0.818	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1336,0,1432	20	0	1	0
chr8	73292779	73292779	A	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	131.25	81	chr8	73292779	.	A	G,*	131.25	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=-2.333e+00;DP=1586;ExcessHet=0.6776;FS=162.685;InbreedingCoeff=-0.1063;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.861;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,17,0:89:99:0|1:73292779_A_G:145,0,2586,281,2668,3039:73292779	17	0	1	0
chr8	73292781	73292781	C	G	exonic	RPL7	.	nonsynonymous SNV	RPL7:NM_000971:exon2:c.G31C:p.V11L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.045	B	0.005	B	0.004	U	1.000	D	0.79	N	.	.	-1.039	T	0.071	T	0.151	0.788	8.155	1.89	0.549	0.308	6.001	0.037	0.0139334947433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.952	0.02136	T	0.854	0.03467	T	0.045	0.21781	B	0.005	0.11217	B	0.003767	0.34511	U	0.183686	0.999531	0.81001	D	1.77	0.45869	L	.	.	.	1.0	0.01408	N	0.172	0.18376	-1.0393	0.17526	T	0.071	0.28936	T	9	0.04261172	0.03028	T	0.013933	0.33698	T	0.037	0.09474	0.223	0.14665	0.250512400709	0.24649	0.1907967873718953	0.18997	0.377967339066	0.39223	0.499058246613	0.38697	T	0.104702	0.41449	T	-0.147378	0.28722	T	-0.449475	0.27754	T	0.341861397027969	0.26697	T	0.692631	0.30204	T	0.053786583	0.10227	0.03245266	0.01983	0.053786583	0.10227	0.03245266	0.01983	-5.272	0.39665	T	.	.	0.186	0.40164	B	.	.	3.113271	0.42004	21.5	0.92328883612177748	0.21725	0.85326	0.44448	D	AEFDBHCI	0.200703	0.32741	N	-0.616447560925101	0.18449	0.9579671	-0.483828824768087	0.22598	1.228242	0.999967735189877	0.48965	0.733237	0.96898	0	0.600757	0.49542	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	3.68	1.89	0.24700	0.406000	0.20754	0.851000	0.22138	0.589000	0.31548	0.948000	0.32982	0.988000	0.31051	0.996000	0.76049	0.0:0.7704:0.0:0.2296	6.001	0.18750	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1538	134.68	74	chr8	73292781	.	C	G,*	134.68	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-1.504e+00;DP=1513;ExcessHet=0.6776;FS=104.475;InbreedingCoeff=-0.2386;MLEAC=1,4;MLEAF=0.038,0.154;MQ=60.00;MQRankSum=0.00;QD=0.40;ReadPosRankSum=1.71;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,17,0:89:99:0|1:73292779_A_G:145,0,2586,284,2671,3081:73292779	9	0	1	8
chr8	73292781	73292781	C	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	134.68	74	chr8	73292781	.	C	G,*	134.68	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-1.504e+00;DP=1513;ExcessHet=0.6776;FS=104.475;InbreedingCoeff=-0.2386;MLEAC=1,4;MLEAF=0.038,0.154;MQ=60.00;MQRankSum=0.00;QD=0.40;ReadPosRankSum=1.71;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,17,0:89:99:0|1:73292779_A_G:145,0,2586,284,2671,3081:73292779	9	0	1	8
chr8	73292782	73292782	-	GGGG	exonic	RPL7	.	frameshift insertion	RPL7:NM_000971:exon2:c.29_30insCCCC:p.E10Dfs*11,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	523.71	70	chr8	73292782	.	C	CGGGG	523.71	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.625e+00;DP=1380;ExcessHet=0.6776;FS=99.991;InbreedingCoeff=-0.1354;MLEAC=4;MLEAF=0.105;MQ=60.00;MQRankSum=0.00;QD=1.57;ReadPosRankSum=1.67;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,6:83:99:.:.:156,0,2928	15	0	4	2
chr8	91102708	91102708	C	T	exonic	LRRC69	.	nonsynonymous SNV	LRRC69:NM_001129890:exon1:c.C47T:p.T16M	.	.	426	1095	1	0	0	1	0.000456413	.	.	3287957	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.986	D	0.021	U	0.969	N	2.14	M	1.83	T	-0.794	T	0.244	T	0.666	1.912	12.35	5.11	2.826	3.303	14.225	0.161	0.0121029598098	0.0004	.	0.0004	0	0	0	0	0.0003	0	0.0008	8.41e-05	13	154602	rs200429038	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0005	0.0006	0.0006	3.166e-05	0.0002	0	2.799e-05	2.028e-05	0.0002	0.0006	0.0007	0.0007	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0006	0	0	0	0	0.0005	0.0005	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.021125	0.26895	U	0.238619	0.985654	0.25766	N	2.19	0.61577	M	0.97	0.42502	T	-6.0	0.89534	D	0.601	0.61933	-0.7945	0.55467	T	0.244	0.61237	T	10	0.08230716	0.13571	T	0.012103	0.30367	T	0.161	0.41658	.	.	0.28297238246	0.27903	0.09403433829477081	0.09335	.	.	0.542641878128	0.44819	T	0.01342	0.11608	T	-0.237781	0.15633	T	-0.197365	0.54896	T	0.183517166599199	0.19455	T	0.70443	0.31478	T	0.043376733	0.06748	0.05166775	0.08361	0.043376733	0.06748	0.05166775	0.08360	-4.409	0.38594	T	.	.	0.187	0.46994	B	.;.;.	.;.;.	4.494253	0.70227	25.5	0.93288493532219818	0.22995	0.81143	0.40610	D	AEFBI	0.135248	0.25552	N	0.666527240252165	0.77442	6.675471	0.632911598977493	0.77341	6.661167	0.942709049762566	0.27534	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	5.11	5.11	0.69188	3.315000	0.51661	4.678000	0.44308	0.599000	0.40250	0.961000	0.33663	0.999000	0.35428	0.993000	0.69303	0.0:1.0:0.0:0.0	14.225	0.65397	595	0.68488	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1632.98	36	chr8	91102708	.	C	T	1632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.562;DP=833;ExcessHet=0.0000;FS=1.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=0.826;SOR=0.848	GT:AD:DP:GQ:PL	0/1:66,67:133:99:1647,0,1526	20	0	1	0
chr8	115620010	115620010	C	T	exonic	TRPS1	.	nonsynonymous SNV	TRPS1:NM_001282902:exon2:c.G61A:p.E21K	Trichorhinophalangeal syndrome, type I, Autosomal dominant;Trichorhinophalangeal syndrome, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	782983	Trichorhinophalangeal_syndrome,_type_III|Trichorhinophalangeal_dysplasia_type_I	MONDO:MONDO:0008597,MedGen:C1860823,OMIM:190351,Orphanet:77258|MONDO:MONDO:0008596,MedGen:C0432233,OMIM:190350,Orphanet:77258	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.995	D	0.97	D	0.000	D	1.000	D	0.805	L	0.46	T	1.137	D	0.962	D	0.913	4.681	25.9	5.82	2.751	6.940	20.097	0.610	0.131135752101	8.4e-05	0.000199681	0.0001	0	0	0	0	3.013e-05	0.0011	0.0009	0.0001294	20	154602	rs371442998	7.183e-05	7.182e-05	3.539e-05	0.0001	0.0010	6.047e-05	5.595e-05	0.0008	0.0008	2.987e-05	2.236e-05	0	2.519e-05	0	0	1.439e-05	1.656e-05	0.0010	4.595e-05	4.593e-05	3.854e-05	5.37e-05	0.0010	2.107e-05	1.526e-05	0.0004	0.0003	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.992	0.67487	D	0.935	0.72226	D	0.000001	0.62929	D	0.000000	0.999998	0.58761	D	0.895	0.22405	L	-5.36	0.99284	D	-0.79	0.74051	N	0.727	0.90932	1.137	0.99934	D	0.962	0.98790	D	10	0.34117383	0.51172	T	0.131136	0.81335	D	0.610	0.84719	.	.	0.918995574433	0.91817	0.48458310658177506	0.48378	0.513444096362	0.49339	0.592035233974	0.51782	T	0.188572	0.54253	T	0.24325	0.77967	D	0.48748	0.94363	D	0.257667422294617	0.23213	T	0.963704	0.86510	D	0.51269394	0.67836	0.56440496	0.74790	0.51269394	0.67837	0.56440496	0.74791	-3.669	0.18861	T	0.4979258605296832	0.57364	0.096	0.54448	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.909753	0.80764	27.4	0.9992665271578105	0.99103	0.98396	0.82349	D	AEFGBI	0.833615	0.75179	D	0.702164000587782	0.79775	7.149	0.750104084259335	0.86166	8.802773	0.999999999999979	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.82	5.82	0.92740	7.084000	0.76541	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.097	0.97848	940	0.13648	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1550.98	33	chr8	115620010	.	C	T	1550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=816;ExcessHet=0.0000;FS=1.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=-4.700e-02;SOR=0.522	GT:AD:DP:GQ:PL	0/1:50,61:111:99:1565,0,1212	20	0	1	0
chr8	120278506	120278506	G	A	exonic	COL14A1	.	nonsynonymous SNV	COL14A1:NM_001384947:exon28:c.G3409A:p.V1137I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.997	D	0.994	D	0.000	D	1.000	D	1.5	L	-1.97	D	0.288	D	0.691	D	0.56	5.137	32	5.47	2.718	9.767	19.690	0.447	0.0183456825814	.	.	8.279e-06	0	0	0	0	0	0	6.066e-05	6.5e-06	1	154602	rs774249760	6.845e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34800	T	0.017	0.60337	D	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	1.485	0.37223	L	-1.97	0.85173	D	-0.66	0.19085	N	0.645	0.65673	0.288	0.87372	D	0.691	0.89338	D	10	0.7753589	0.77414	D	0.018346	0.40384	T	0.447	0.74866	0.565	0.68633	0.782165406582	0.78015	0.48203103093296584	0.48123	0.680073963959	0.59965	0.590002834797	0.51494	T	0.140293	0.47475	T	0.0590392	0.59491	T	-0.0561166	0.66601	D	0.732780272772375	0.42354	D	0.946505	0.79528	D	0.09109374	0.21335	0.1235438	0.29789	0.09109374	0.21334	0.1235438	0.29788	-5.902	0.45994	T	.	.	0.112	0.31683	B	.;.;.	.;.;.	4.583932	0.72443	25.8	0.99878330142372651	0.95491	0.99367	0.95101	D	AEFBI	0.942556	0.94729	D	0.766140083757049	0.83952	8.154044	0.771912205978859	0.87780	9.342593	0.999999998755675	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.47	5.47	0.80345	9.956000	0.98995	9.900000	0.82342	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.690	0.95994	673	0.60677	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	798.98	37	chr8	120278506	.	G	A	798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.036e+00;DP=794;ExcessHet=0.0000;FS=0.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-3.470e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/1:43,35:78:99:813,0,1141	20	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	1.0	D	0.997	D	0.000	D	1.000	D	1.115	L	1.39	T	-1.032	T	0.165	T	0.358	3.812	19.36	6.02	2.857	7.403	19.525	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	690.63	84	chr8	132010871	.	G	C	690.63	.	AC=7;AF=0.250;AN=28;BaseQRankSum=-3.452e+00;DP=3010;ExcessHet=2.5830;FS=194.769;InbreedingCoeff=-0.3327;MLEAC=9;MLEAF=0.321;MQ=60.00;MQRankSum=0.00;QD=0.65;ReadPosRankSum=1.12;SOR=12.620	GT:AD:DP:GQ:PL	0/1:97,41:157:81:81,0,1638	7	0	7	7
chr8	134637595	134637595	G	A	exonic	ZFAT	.	nonsynonymous SNV	ZFAT:NM_001167583:exon3:c.C278T:p.P93L	.	.	419	1093	10	0	0	10	0.00455373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.004	B	0.001	B	0.642	N	1.000	N	0.55	N	3.15	T	-1.026	T	0.067	T	0.193	-0.006	3.983	2.36	0.573	1.913	10.091	0.047	0.0137744748591	0.0026	0.000399361	0.0032	0.0004	0.0012	0.0010	0.0008	0.0046	0.0033	0.0027	0.0030595	473	154602	rs146684203	0.0034	0.0034	0.0034	0.0034	0.0040	0.0033	0.0033	0.0036	0.0035	0.0006	0.0009	0.0096	0.0005	0.0020	0.0040	0.0037	0.0031	0.0030	0.0024	0.0024	0.0027	0.0022	0.0041	0.0022	0.0021	0.0037	0.0035	0.0006	0	0.0005	0.0092	0.0004	0.0013	0.0034	0.0041	0.0024	0.0015	0.149	0.25873	T	0.17	0.57104	T	0.004	0.12183	B	0.001	0.04355	B	0.642362	0.10587	N	0.833922	1	0.08975	N	1.7	0.43825	L	3.15	0.40749	T	-1.14	0.85247	N	0.108	0.11769	-1.0261	0.21723	T	0.067	0.27399	T	10	0.003590554	0.00065	T	0.013774	0.33422	T	0.047	0.12962	.	.	0.107399877778	0.10242	0.1345104382100156	0.13375	0.258302563221	0.28385	0.262367069721	0.05175	T	0.020214	0.44156	T	-0.559637	0.00255	T	-0.572931	0.15182	T	0.00435093853817475	0.00046	T	0.731327	0.36245	T	0.02190634	0.00819	0.032731384	0.02054	0.02190634	0.00819	0.032731384	0.02053	-3.617	0.21719	T	.	.	0.066	0.03552	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.908816	0.12830	9.345	0.66891786308827916	0.08192	0.11759	0.16843	N	AEFDGBI	0.068430	0.13498	N	-1.06053826346925	0.07382	0.3427704	-1.03567667578617	0.09008	0.4458205	0.999959064877607	0.48110	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.15	2.36	0.28258	1.983000	0.40270	0.767000	0.21364	-0.127000	0.13314	0.020000	0.19661	0.000000	0.08366	0.007000	0.07825	0.2241:0.0:0.7759:0.0	10.091	0.41620	980	0.04108	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1576.98	33	chr8	134637595	.	G	A	1576.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.399;DP=826;ExcessHet=0.0000;FS=9.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.721;SOR=1.130	GT:AD:DP:GQ:PL	0/1:61,64:125:99:1591,0,1448	20	0	1	0
chr8	141436824	141436824	G	A	exonic	MROH5	.	unknown	UNKNOWN,	.	.	412	1106	3	1	0	5	0.0022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.00439297	0.0059	0.0077	0.0017	0.0001	0.0078	0.0084	0.0043	0.0005	0.0050064	774	154602	rs115712352	0.0058	0.0058	0.0060	0.0057	0.0072	0.0057	0.0057	0.0066	0.0066	0.0072	0.0013	0.0005	2.53e-05	0.0072	0.0015	0.0067	0.0048	0.0003	0.0062	0.0062	0.0067	0.0056	0.0075	0.0058	0.0057	0.0068	0.0065	0.0075	0	0.0054	0.0003	0	0.0057	0	0.0069	0.0061	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	0.02381	939.98	40	chr8	141436824	.	G	A	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.140e-01;DP=924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.22;ReadPosRankSum=1.56;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,43:92:99:1|0:141436823_C_T:954,0,1898:141436823	20	0	1	0
chr8	143429787	143429789	TGG	-	exonic	MAFA	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.618_620del:p.H208del,	.	.	264	254	1	13	990	1017	0.0504673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	51136.5	54	chr8	143429783	.	ATGGTGG	ATGG,A	51136.5	.	AC=38,4;AF=0.905,0.095;AN=42;BaseQRankSum=1.21;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=38,4;MLEAF=0.905,0.095;MQ=60.00;MQRankSum=0.00;QD=34.47;ReadPosRankSum=0.693;SOR=0.738	GT:AD:DP:GQ:PL	1/2:1,64,6:71:54:2843,206,54,2611,0,2749	0	17	0	0
chr8	143803544	143803544	C	T	exonic	SCRIB	.	nonsynonymous SNV	SCRIB:NM_015356:exon24:c.G3442A:p.D1148N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.994	D	.	.	1.000	D	2.475	M	1.54	T	-0.722	T	0.181	T	0.238	3.488	17.84	4.82	2.222	5.492	15.112	0.250	0.22528103838	7.8e-05	.	3.122e-05	0.0005	0	0	0	0	0	0	1.94e-05	3	154602	rs138813890	2.066e-05	2.121e-05	1.782e-05	2.353e-05	0.0005	1.466e-05	1.272e-05	0.0003	0.0002	0.0005	0	0	0.0002	0	0	6.301e-06	1.661e-05	0	9.324e-05	9.27e-05	0.0001	6.813e-05	0.0003	5.6e-05	4.421e-05	0.0002	0.0001	0.0003	0	6.612e-05	0	0	0	0	0	0	0	0.004	0.68238	D	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	0.999879	0.50225	D	.	.	.	1.54	0.30133	T	-3.66	0.74051	D	0.819	0.81459	-0.7217	0.59379	T	0.181	0.52858	T	9	0.56563354	0.65034	D	0.225281	0.87990	D	0.271	0.58633	.	.	0.451049791843	0.44729	0.7127272423809204	0.71214	.	.	0.751028954983	0.74598	T	0.29311	0.66806	T	-0.304758	0.08218	T	-0.420495	0.31019	T	0.742136612358682	0.42852	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.79291	P	.;.;.	.;.;.	3.981068	0.58523	24.0	0.99812300179971136	0.89620	0.92049	0.54832	D	AEFDBHCI	0.575984	0.57816	D	0.162086836136301	0.49385	3.139548	0.0843612178183688	0.43760	2.671302	0.999999954392455	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	7.256000	0.77768	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.012000	0.09680	0.0:1.0:0.0:0.0	15.112	0.72042	946	0.12043	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	794.98	34	chr8	143803544	.	C	T	794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.293e+00;DP=816;ExcessHet=0.0000;FS=0.948;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=1.29;SOR=0.569	GT:AD:DP:GQ:PL	0/1:28,34:62:99:809,0,677	20	0	1	0
chr8	143864144	143864144	C	A	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G9110T:p.R3037L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0011	0.0004	0.0012	0.0336	0.0007	0.0006	0.0286	0.0267	0	0	0	0	0	0	4.275e-05	0.0005	0.0336	0.0007	0.0007	0.0004	0.0009	0.0294	0.0005	0.0005	0.0228	0.0205	3.622e-05	0	0	0	0	0	0	0	0	0.0294	0.067	0.35918	T	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.41	0.69413	T	-1.33	0.33197	N	0.086	0.06720	.	.	.	.	.	.	.	0.0048879385	0.00104	T	.	.	.	.	.	.	.	.	.	0.18199454870846563	0.18118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317668	0.06346	T	.	.	.	.	.	.	.	.	-5.536	0.42204	T	.	.	0.109	0.20663	B	.;.	.;.	0.906927	0.12814	9.327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.218000	0.09246	.	.	0.000000	0.17513	0.000000	0.06391	0.022000	0.20871	0.285000	0.24139	.	.	.	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	223.59	2	chr8	143864144	.	C	A	223.59	.	AC=2;AF=0.071;AN=28;DP=104;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5103;MLEAC=3;MLEAF=0.107;MQ=36.91;QD=27.95;SOR=2.833	GT:AD:DP:GQ:PL	1/1:0,8:8:24:243,24,0	13	1	0	7
chr8	143919814	143919814	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.C9965T:p.T3322M	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	.	.	.	.	.	.	.	.	.	.	457888	Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|not_provided	MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.986	D	0.584	P	0.119	U	0.882	N	0.69	N	-0.34	T	-0.849	T	0.183	T	0.15	0.099	4.534	3.77	2.455	0.873	5.640	0.140	0.0679341789861	0.0002	.	8.562e-05	0	8.712e-05	0	0	7.834e-05	0	0.0002	6.47e-05	10	154602	rs199950917	7.325e-05	7.319e-05	6.539e-05	8.119e-05	0.0003	6.186e-05	5.746e-05	0.0002	0.0002	0	4.472e-05	0	0	0	0	7.014e-05	3.312e-05	0.0003	3.941e-05	3.94e-05	2.568e-05	5.377e-05	0.0002	1.715e-05	1.129e-05	7.99e-06	2.99e-06	4.822e-05	0	0	0	0	0	0	2.939e-05	0.0005	0.0002	0.043	0.46129	D	0.05	0.48594	T	0.986	0.61523	D	0.584	0.50293	P	0.118947	0.19094	U	0.433639	0.881701	0.28037	N	1.895	0.50365	L	-0.34	0.68474	T	-1.95	0.48184	N	0.306	0.41952	-0.8491	0.52031	T	0.183	0.53087	T	10	0.11528623	0.21715	T	0.067934	0.70308	D	0.140	0.37593	.	.	0.511162291539	0.50756	0.4045796208575317	0.40373	.	.	0.351956188679	0.18210	T	0.14053	0.47512	T	-0.315233	0.07294	T	-0.394394	0.34036	T	0.13060463102429	0.15438	T	0.924008	0.72230	D	0.029083451	0.02347	0.062279217	0.12159	0.029083451	0.02346	0.062279217	0.12159	-6.917	0.53425	T	0.13960578831071754	0.15551	0.082	0.08657	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.632710	0.34238	19.57	0.88069315786687863	0.17693	0.67391	0.33416	D	AEFDBCI	0.240752	0.36248	N	-0.0178209889996718	0.41051	2.448475	-0.0608446867450069	0.37024	2.162333	0.999753254634615	0.42595	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.73	3.77	0.42499	0.834000	0.27171	.	.	0.660000	0.55035	0.315000	0.25459	1.000000	0.68203	0.305000	0.24618	0.1024:0.0:0.6161:0.2815	5.640	0.16836	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3667.98	112	chr8	143919814	.	G	A	3667.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.92;DP=2252;ExcessHet=0.0000;FS=2.443;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-4.680e-01;SOR=0.851	GT:AD:DP:GQ:PL	0/1:189,146:335:99:3682,0,4572	20	0	1	0
chr8	144264323	144264323	C	T	exonic	BOP1	.	nonsynonymous SNV	BOP1:NM_015201:exon7:c.G880A:p.G294R,	.	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	.	.	.	.	0.000	D	0.877	D	.	.	1.28	T	-0.999	T	0.076	T	0.383	-0.685	1.021	3.56	1.980	4.137	13.046	0.052	0.0172353317573	.	.	.	.	.	.	.	.	.	.	.	.	.	rs908585250	0.0004	0.0004	0.0003	0.0006	0.0060	0.0004	0.0004	0.0056	0.0054	0	2.242e-05	0	0.0003	0	0.0013	6.027e-05	0.0004	0.0060	0.0002	0.0002	0.0001	0.0003	0.0062	0.0002	0.0002	0.0045	0.0039	0	0	0.0001	0	0	0	0	5.883e-05	0	0.0062	1.0	0.00964	T	0.63	0.07196	T	.	.	.	.	.	.	0.000037	0.55875	D	0.069540	.	.	.	.	.	.	1.28	0.35960	T	0.13	0.05503	N	0.32	0.36043	-0.9994	0.30087	T	0.076	0.30645	T	6	0.06855351	0.09712	T	0.076895	0.72640	D	.	.	.	.	0.34333109794	0.33943	0.42831638114400555	0.42748	.	.	0.908814251423	0.97357	D	0.031854	0.22228	T	-0.122611	0.32698	T	-0.413898	0.31778	T	0.964915215969086	0.67105	D	.	.	.	0.12488934	0.29290	0.11567794	0.27925	0.12488934	0.29290	0.11567794	0.27924	-12.71	0.88133	D	.	.	0.574	0.67806	P	.	.	3.442201	0.47889	22.5	0.87679086664119155	0.17402	0.94608	0.61722	D	AEFGI	0.415872	0.48455	N	-0.170914129029816	0.34349	1.959521	-0.230425106861143	0.30451	1.714694	0.998389121111752	0.36869	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.56	3.56	0.39892	1.749000	0.37946	7.562000	0.60503	0.587000	0.30956	0.990000	0.36992	1.000000	0.68203	0.413000	0.27073	0.0:1.0:0.0:0.0	13.046	0.58337	946	0.12043	BOP1, N-terminal domain|BOP1, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2404.98	37	chr8	144264323	.	C	T	2404.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.553;DP=939;ExcessHet=0.0000;FS=0.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=0.131;SOR=0.760	GT:AD:DP:GQ:PL	0/1:73,95:168:99:2419,0,1698	20	0	1	0
chr8	144520987	144520987	C	T	exonic	LRRC14	.	nonsynonymous SNV	LRRC14:NM_014665:exon4:c.C991T:p.R331W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.956	P	0.401	B	0.031	N	1.000	N	0.145	N	0.84	T	-1.066	T	0.064	T	0.199	0.997	9.071	2.41	0.424	0.702	6.653	0.064	0.0224143336136	.	.	.	.	.	.	.	.	.	.	1.94e-05	3	154602	rs762276370	1.848e-05	1.915e-05	1.362e-05	2.339e-05	2.338e-05	1.266e-05	1.085e-05	1.627e-05	1.382e-05	0	0	0	0	0	0	2.338e-05	0	1.159e-05	3.285e-05	3.283e-05	3.853e-05	2.689e-05	0.0002	1.261e-05	7.98e-06	5.286e-05	2.835e-05	0	0	0.0002	0	0	0	0	2.939e-05	0	0	0.002	0.72154	D	0.001	0.83351	D	0.956	0.54666	P	0.401	0.44513	B	0.031158	0.25208	N	0.438834	1	0.08975	N	0.11	0.08516	N	0.84	0.47477	T	-3.03	0.62747	D	0.203	0.22998	-1.0658	0.10362	T	0.064	0.26420	T	10	0.24966082	0.42281	T	0.022414	0.45307	T	0.064	0.18567	.	.	0.707378670463	0.70482	0.3959449343704171	0.39509	0.829417687169	0.67559	0.289806127548	0.08894	T	0.298422	0.67098	T	-0.271582	0.11581	T	-0.531031	0.19184	T	0.832383692264557	0.48716	D	0.867613	0.56877	D	0.076699905	0.17364	0.08382401	0.19239	0.076699905	0.17363	0.08382401	0.19239	-5.769	0.44303	T	.	.	0.154	0.34992	B	.;.	.;.	2.880634	0.38118	20.7	0.9963226933895416	0.76142	0.20526	0.21074	N	AEFDGBCIJ	0.262085	0.37990	N	-0.576930602826678	0.19647	1.029891	-0.693261921929132	0.17129	0.9093933	0.999998451908138	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.26	2.41	0.28644	0.652000	0.24573	1.063000	0.23738	-0.314000	0.05961	0.001000	0.13787	0.000000	0.08366	0.399000	0.26759	0.1773:0.7251:0.0:0.0977	6.653	0.22162	880	0.29376	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2494.98	37	chr8	144520987	.	C	T	2494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=978;ExcessHet=0.0000;FS=4.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=-1.080e+00;SOR=1.037	GT:AD:DP:GQ:PL	0/1:112,94:206:99:2509,0,2835	20	0	1	0
chr8	144932073	144932073	C	A	exonic	ZNF16	.	nonsynonymous SNV	ZNF16:NM_006958:exon3:c.G714T:p.M238I	.	.	405	1115	2	0	0	2	0.000896057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.001	B	.	.	1.000	N	-0.4	N	2.52	T	-0.957	T	0.014	T	0.035	-0.537	1.562	1.84	0.231	-4.789	3.647	0.014	.	7.7e-05	0.0061901	0.0029	9.649e-05	8.637e-05	0	0	0	0.0022	0.0213	0.0025744	398	154602	rs144042148	0.0013	0.0013	0.0008	0.0019	0.0214	0.0013	0.0013	0.0206	0.0203	8.961e-05	0	0	5.038e-05	0	0.0005	3.597e-06	0.0014	0.0214	0.0008	0.0008	0.0004	0.0011	0.0238	0.0006	0.0006	0.0203	0.0190	2.406e-05	0	0	0	0	0	0	0	0	0.0238	0.189	0.21224	T	0.103	0.38305	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.99	0.01185	N	2.52	0.14160	T	-0.87	0.23590	N	0.041	0.01421	-0.9566	0.39807	T	0.014	0.05369	T	9	0.0029988587	0.00049	T	.	.	.	0.014	0.01968	0.234	0.16305	0.0954503805726	0.09146	0.030133323168473763	0.02962	0.0808181944237	0.09095	0.260634034872	0.04966	T	0.007254	0.06665	T	-0.773925	0.00012	T	-0.867546	0.00766	T	0.00769874969371873	0.00090	T	0.461354	0.13375	T	0.0736812	0.16482	0.076074906	0.16811	0.0736812	0.16482	0.076074906	0.16811	-2.556	0.06176	T	.	.	0.130	0.27821	B	.;.;.	.;.;.	-0.268374	0.02760	0.371	0.59467121481041241	0.06231	0.04225	0.09743	N	AEFDBHI	0.051139	0.09005	N	-1.23749550748239	0.04467	0.2016678	-1.22526692005899	0.05506	0.2625501	0.0618413866650007	0.15244	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.674467	0.66132	0	.	.	4.01	1.84	0.24348	-2.955000	0.00741	-1.298000	0.05782	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.817000	0.38496	0.0:0.1804:0.4786:0.341	3.647	0.07728	774	0.48577	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2088.98	42	chr8	144932073	.	C	A	2088.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=950;ExcessHet=0.0000;FS=0.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=-1.109e+00;SOR=0.610	GT:AD:DP:GQ:PL	0/1:73,76:149:99:2103,0,1805	20	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	10566.34	45	chr9	117371	.	C	G,*	10566.34	.	AC=21,5;AF=0.500,0.119;AN=42;BaseQRankSum=1.69;DP=683;ExcessHet=1.5101;FS=0.547;InbreedingCoeff=-0.0096;MLEAC=21,5;MLEAF=0.500,0.119;MQ=45.38;MQRankSum=-4.449e+00;QD=18.70;ReadPosRankSum=-5.950e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:21,0,11:32:99:0|1:117366_C_CCG:399,462,1332,0,870,837:117366	3	5	9	0
chr9	2807860	2807860	G	C	exonic	PUM3	.	nonsynonymous SNV	PUM3:NM_014878:exon17:c.C1768G:p.L590V,	.	.	435	1086	1	0	0	1	0.000460193	.	.	2339417	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.782	P	0.411	B	0.000	D	0.947	D	2.545	M	2.47	T	-1.045	T	0.059	T	0.71	1.543	11.11	1.53	0.412	0.349	11.046	0.211	0.018292513745	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	9.7e-05	15	154602	rs201493570	7.801e-05	8.072e-05	6.4e-05	9.216e-05	0.0005	6.602e-05	6.144e-05	0.0002	0.0002	2.987e-05	4.472e-05	0	2.52e-05	0	0.0005	6.116e-05	0.0002	0.0003	1.972e-05	1.97e-05	2.571e-05	1.345e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.941e-05	0	0	0.008	0.58626	D	0.017	0.60337	D	0.782	0.44333	P	0.411	0.44827	B	0.000000	0.84330	D	0.000000	0.946822	0.37543	D	.	.	.	2.47	0.14783	T	-1.73	0.41046	N	0.593	0.61256	-1.0446	0.15942	T	0.059	0.24723	T	10	0.4792884	0.60334	T	0.018293	0.40304	T	0.211	0.50185	0.721	0.85585	0.0551355673512	0.04727	0.35909996705142294	0.35823	0.00447420915356	0.00396	0.493885040283	0.37979	T	0.017349	0.14172	T	-0.231104	0.16503	T	-0.277592	0.47050	T	0.0574609728249047	0.06763	T	0.875013	0.58582	D	0.44020528	0.63415	0.22844805	0.47887	0.44020528	0.63416	0.22844805	0.47886	-7.048	0.54383	T	.	.	0.158	0.34840	B	.	.	2.120741	0.26994	17.31	0.99391647996392574	0.62383	0.81371	0.40788	D	AEFBI	0.121217	0.23577	N	0.00712089959041916	0.42179	2.536518	-0.0259894089842602	0.38545	2.272439	0.999680922567867	0.41756	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	1.53	0.22224	0.252000	0.18046	1.255000	0.25194	0.676000	0.76740	0.979000	0.35152	1.000000	0.68203	0.731000	0.35132	0.355:0.0:0.645:0.0	11.046	0.47078	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	880.98	34	chr9	2807860	.	G	C	880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.537e+00;DP=817;ExcessHet=0.0000;FS=3.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.31;ReadPosRankSum=-2.919e+00;SOR=0.427	GT:AD:DP:GQ:PL	0/1:62,44:106:99:895,0,1630	20	0	1	0
chr9	4117933	4117933	C	G	exonic	GLIS3	.	nonsynonymous SNV	GLIS3:NM_152629:exon3:c.G1080C:p.E360D	Diabetes mellitus, neonatal, with congenital hypothyroidism, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	193742	not_provided|Neonatal_diabetes_mellitus_with_congenital_hypothyroidism|not_specified	MedGen:C3661900|MONDO:MONDO:0012436,MedGen:C1857775,OMIM:610199,Orphanet:79118|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.01	B	0.023	B	0.000	D	1.000	D	0.265	N	-2.02	D	-0.359	T	0.407	T	0.349	2.433	14.09	5.51	2.595	3.275	13.692	0.241	0.027846564951	0.0038	0.00199681	0.0028	0.0016	0.0017	0	0.0012	0.0042	0.0044	0.0007	0.0029366	454	154602	rs72687988	0.0041	0.0041	0.0041	0.0041	0.0047	0.0040	0.0039	0.0046	0.0045	0.0010	0.0021	0.0078	0	0.0011	0.0042	0.0047	0.0039	0.0010	0.0030	0.0030	0.0032	0.0028	0.0048	0.0028	0.0027	0.0044	0.0042	0.0009	0.0033	0.0031	0.0069	0	0.0013	0.0068	0.0048	0.0033	0.0002	0.384	0.14449	T	0.322	0.22359	T	0.01	0.15535	B	0.022	0.19653	B	0.000073	0.52346	D	0.000000	0.999662	0.49394	D	0.41	0.12415	N	-2.83	0.91249	D	-1.56	0.37955	N	0.281	0.31814	-0.3591	0.73290	T	0.407	0.75656	T	10	0.007063985	0.00161	T	0.027847	0.50607	D	0.241	0.54641	0.4	0.42917	0.938952316478	0.93832	0.3079862938546511	0.30711	0.145997136557	0.16486	0.59593129158	0.52330	T	0.161771	0.50617	T	-0.279464	0.10724	T	-0.173391	0.57132	T	0.0103554141077361	0.00142	T	0.913409	0.69158	D	0.23363514	0.46171	0.1695142	0.38990	0.18452345	0.39771	0.17580035	0.40070	-5.119	0.40977	T	.	.	0.303	0.55438	B	.;.	.;.	4.535016	0.71228	25.6	0.98347366897334476	0.40507	0.62904	0.31924	D	ALL	0.498040	0.53230	N	-0.132925408139564	0.35964	2.072526	0.0966217713423375	0.44379	2.720748	0.999999999999988	0.74766	0.520426	0.21595	0	0.61073	0.52368	0	0.440839	0.06518	1	0.638833	0.57524	0	.	.	5.51	5.51	0.81769	3.340000	0.51861	2.247000	0.31658	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.9261:0.0:0.0739	13.692	0.62033	882	0.29131	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.04762	3174.11	63	chr9	4117933	.	C	G	3174.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.975e+00;DP=1323;ExcessHet=0.1072;FS=3.993;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.182;SOR=0.503	GT:AD:DP:GQ:PL	0/1:82,72:154:99:1784,0,2237	19	0	2	0
chr9	27949728	27949728	T	G	exonic	LINGO2	.	nonsynonymous SNV	LINGO2:NM_001354574:exon6:c.A944C:p.H315P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984	D	0.861	P	0.000	D	1.000	D	1.225	L	0.39	T	-0.768	T	0.233	T	0.689	3.362	17.33	5.95	2.279	8.040	16.424	0.362	0.0167696114298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.219	0.25987	T	0.984	0.60733	D	0.861	0.61279	P	0.000006	0.62929	D	0.108147	1	0.81001	D	0.815	0.20815	L	0.39	0.57419	T	-2.71	0.57762	D	0.547	0.65245	-0.7678	0.56978	T	0.233	0.59904	T	9	0.5144114	0.62282	D	0.01677	0.38181	T	0.362	0.68230	0.573	0.69695	0.184605227958	0.18053	0.8176652103430494	0.81723	0.361660287145	0.37828	0.622440218925	0.56073	T	0.227797	0.59318	T	0.0921398	0.63428	D	-0.105424	0.62975	T	0.866227984428406	0.51630	D	0.90081	0.65538	D	0.4951831	0.66811	0.5242133	0.72511	0.4951831	0.66812	0.5242133	0.72512	-8.201	0.62432	D	.	.	0.530	0.65911	A	.;.;.	.;.;.	4.039864	0.59798	24.1	0.98540243788669624	0.42707	0.98778	0.86731	D	AEFGBI	0.971828	0.99380	D	0.644010126983445	0.75982	6.403144	0.694754505723211	0.81978	7.655192	0.999997619687308	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	8.017000	0.88732	7.944000	0.75617	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.424	0.83629	602	0.67834	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2376.98	34	chr9	27949728	.	T	G	2376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=891;ExcessHet=0.0000;FS=0.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=-6.130e-01;SOR=0.643	GT:AD:DP:GQ:PL	0/1:83,94:177:99:2391,0,2104	20	0	1	0
chr9	27949993	27949993	G	T	exonic	LINGO2	.	nonsynonymous SNV	LINGO2:NM_001354574:exon6:c.C679A:p.L227M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	3.67	H	-0.86	T	0.600	D	0.725	D	0.809	3.445	17.66	6.17	2.941	4.805	20.879	0.509	0.0401945701821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.775	0.95212	H	-0.86	0.74477	T	-1.87	0.43717	N	0.793	0.78927	0.600	0.91907	D	0.725	0.90583	D	9	0.92766297	0.92111	D	0.040195	0.59241	D	0.509	0.78910	0.825	0.93657	0.571980277249	0.56865	0.6817745151198109	0.68116	0.639740022151	0.57628	0.669850349426	0.62816	T	0.188948	0.54301	T	0.255094	0.79075	D	0.128649	0.78803	D	0.988292276859283	0.78645	D	0.930407	0.74231	D	0.6319459	0.74402	0.55163777	0.74074	0.6319459	0.74403	0.55163777	0.74074	-7.354	0.56579	T	.	.	0.541	0.66419	A	.;.;.	.;.;.	4.356300	0.66946	25.0	0.99573629668829544	0.72561	0.98091	0.79521	D	AEFBI	0.783271	0.71430	D	0.945842772849416	0.93818	12.29833	0.895504098320248	0.95373	13.56111	0.999999999619525	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	4.912000	0.63031	7.665000	0.64460	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.879	0.99870	607	0.67291	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2596.98	34	chr9	27949993	.	G	T	2596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.512e+00;DP=932;ExcessHet=0.0000;FS=1.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-1.212e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/1:103,105:208:99:2611,0,2795	20	0	1	0
chr9	34179016	34179016	T	C	exonic	UBAP1	.	startloss	UBAP1:NM_001171201:exon1:c.T2C:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	D	.	.	0.87	T	-1.046	T	0.087	T	0.029	2.337	13.77	1.89	0.061	0.175	3.865	0.028	0.0287928593235	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759528561	1.177e-05	2.531e-05	6.909e-06	1.711e-05	0.0001	6.56e-06	5.06e-06	4.781e-05	2.809e-05	0	0	0	0	0	0	8.602e-06	2.242e-05	0.0001	6.579e-06	6.569e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.111	0.09772	-1.0464	0.15418	T	0.087	0.33774	T	8	0.061095864	0.07607	T	0.028793	0.51417	D	.	.	.	.	0.043077524339	0.03247	0.1210789423724347	0.12034	.	.	.	.	.	.	.	.	-0.568591	0.00226	T	-0.645866	0.09246	T	0.062158178538084	0.07505	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-7.385	0.56800	T	.	.	.	.	.	.	.	1.166981	0.15563	11.94	0.80638429845767012	0.13298	0.00613	0.02718	N	ALL	0.018973	0.00619	N	-0.916727430755674	0.10451	0.4994648	-0.945244693051644	0.11033	0.5596221	1.0	0.98316	0.407012	0.06308	2	0.166054	0.03914	2	0.289072	0.05449	1	0.273489	0.05413	2	.	.	4.83	1.89	0.24700	0.200000	0.17055	1.548000	0.27274	-0.176000	0.10722	0.150000	0.23655	0.961000	0.29326	0.067000	0.16453	0.1816:0.0:0.4842:0.3342	3.865	0.08518	296	0.88164	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	540.98	35	chr9	34179016	.	T	C	540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e-01;DP=744;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=0.544;SOR=0.677	GT:AD:DP:GQ:PL	0/1:28,25:53:99:555,0,674	20	0	1	0
chr9	35906589	35906589	-	CCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCA:p.H105_P106insHHH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|5:26,0,0,0,0,4:30:51:0|1:35906586_T_TCCACCACCACCA:51,132,1119,132,1119,1119,132,1119,1119,1119,132,1119,1119,1119,1119,0,987,987,987,987,971:35906586	13	1	1	0
chr9	35906589	35906589	-	CCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCA:p.H105_P106insHH,	.	.	713	702	43	17	47	124	0.0519919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|5:26,0,0,0,0,4:30:51:0|1:35906586_T_TCCACCACCACCA:51,132,1119,132,1119,1119,132,1119,1119,1119,132,1119,1119,1119,1119,0,987,987,987,987,971:35906586	13	1	1	0
chr9	35906589	35906589	-	CCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA:p.H107_R108insHHPHHTPHHLHHHHHHPH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|5:26,0,0,0,0,4:30:51:0|1:35906586_T_TCCACCACCACCA:51,132,1119,132,1119,1119,132,1119,1119,1119,132,1119,1119,1119,1119,0,987,987,987,987,971:35906586	13	1	1	0
chr9	35906589	35906589	-	CCACCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCACCA:p.H105_P106insHHHH,	.	.	713	702	43	17	47	124	0.0519919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|5:26,0,0,0,0,4:30:51:0|1:35906586_T_TCCACCACCACCA:51,132,1119,132,1119,1119,132,1119,1119,1119,132,1119,1119,1119,1119,0,987,987,987,987,971:35906586	13	1	1	0
chr9	35906604	35906604	-	CACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA	exonic	HRCT1	.	frameshift insertion	HRCT1:NM_001039792:exon1:c.317_318insCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA:p.H107Tfs*66,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.474e-06	8.085e-06	7.485e-06	9.476e-06	3.226e-05	3.99e-06	2.89e-06	2.63e-06	1.73e-06	0	3.226e-05	0	0	0	0	7.318e-06	2.214e-05	1.524e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	950.17	25	chr9	35906604	.	C	CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA,CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA,CCA	950.17	.	AC=1,1,1;AF=0.031,0.031,0.031;AN=32;BaseQRankSum=0.447;DP=622;ExcessHet=0.3672;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,1,1;MLEAF=0.031,0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.134;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,7,0,0:31:99:1|0:35906586_T_TCCACCACCACCA:219,0,886,294,907,1201,294,907,1201,1201:35906586	13	0	1	5
chr9	35906604	35906604	-	CACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA	exonic	HRCT1	.	frameshift insertion	HRCT1:NM_001039792:exon1:c.317_318insCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA:p.H107Tfs*69,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.0075	0.0076	0.0077	0.0113	0.0075	0.0075	0.0085	0.0082	0.0027	0.0094	0.0095	3.371e-05	0.0028	0.0113	0.0084	0.0097	0.0029	0.0079	0.0089	0.0089	0.0068	0.0112	0.0074	0.0072	0.0104	0.0101	0.0032	0.0084	0.0083	0.0088	0	0.0008	0.0341	0.0112	0.0119	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	950.17	25	chr9	35906604	.	C	CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA,CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA,CCA	950.17	.	AC=1,1,1;AF=0.031,0.031,0.031;AN=32;BaseQRankSum=0.447;DP=622;ExcessHet=0.3672;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,1,1;MLEAF=0.031,0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.134;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,7,0,0:31:99:1|0:35906586_T_TCCACCACCACCA:219,0,886,294,907,1201,294,907,1201,1201:35906586	13	0	1	5
chr9	39073964	39073964	-	T	exonic	CNTNAP3	.	frameshift insertion	CNTNAP3:NM_033655:exon24:c.3792dupA:p.A1265Sfs*15,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	134.94	34	chr9	39073964	.	C	CT	134.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.257e+00;DP=1073;ExcessHet=0.0000;FS=3.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.94;MQRankSum=-1.697e+00;QD=0.45;ReadPosRankSum=1.72;SOR=0.677	GT:AD:DP:GQ:PL	0/1:270,28:298:99:149,0,9213	20	0	1	0
chr9	85958584	85958584	A	C	exonic	NAA35	.	nonsynonymous SNV	NAA35:NM_001321881:exon4:c.A271C:p.K91Q	.	.	.	.	.	.	.	.	.	0.6939	0.714	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.419	B	0.082	B	0.000	D	1.000	D	0.11	N	.	.	-1.032	T	0.080	T	0.467	3.188	16.67	5.62	2.138	7.344	15.834	0.294	0.0082777809681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.19293	T	0.503	0.14116	T	0.419	0.35307	B	0.082	0.29098	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.485	0.13215	N	.	.	.	-0.38	0.19085	N	0.294	0.36148	-1.0317	0.19905	T	0.080	0.31645	T	9	0.15152252	0.28638	T	0.008278	0.21928	T	0.294	0.61388	0.568	0.69034	0.082315109003	0.07666	0.3342031210507255	0.33333	1.09167612201	0.77452	0.716168999672	0.69489	T	0.01474	0.12495	T	0.0226976	0.54745	T	-0.205173	0.54157	T	0.733058154582977	0.42369	D	0.922608	0.71859	D	0.28722066	0.51734	0.14664154	0.34733	0.28722066	0.51733	0.14664154	0.34732	-3.737	0.24564	T	.	.	0.087	0.15743	B	.;.	.;.	3.542885	0.49765	22.8	0.98445253126792909	0.41553	0.98555	0.84043	D	AEFGBI	0.888933	0.82254	D	-0.0638257547807607	0.38988	2.292	0.163492890845091	0.47861	3.010101	0.999999999938951	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.62	5.62	0.85714	7.025000	0.76187	7.972000	0.76042	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	15.834	0.78564	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1545.98	34	chr9	85958584	.	A	C	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=788;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.31;ReadPosRankSum=-2.100e-01;SOR=0.815	GT:AD:DP:GQ:PL	0/1:42,59:101:99:1560,0,988	20	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.765	19.11	5.5	2.594	9.672	19.387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	772.26	67	chr9	86018822	.	G	C	772.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-2.944e+00;DP=1493;ExcessHet=2.5830;FS=140.242;InbreedingCoeff=-0.2308;MLEAC=6;MLEAF=0.158;MQ=60.00;MQRankSum=0.00;QD=1.51;ReadPosRankSum=1.32;SOR=10.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,20:81:68:.:.:68,0,1191	12	0	7	2
chr9	89349806	89349806	C	G	exonic	SECISBP2	.	nonsynonymous SNV	SECISBP2:NM_001354698:exon12:c.C1562G:p.T521S	Thyroid hormone metabolism, abnormal	.	0	1521	1	0	0	1	0.000328623	.	.	3320871	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.041	B	0.016	B	0.942	N	1.000	N	-1.5	N	-0.63	T	-1.019	T	0.083	T	0.037	-0.162	3.210	1.55	0.134	0.599	3.384	0.086	0.0175624148851	.	0.000199681	0.0003	0	0	0	0	0	0	0.0019	0.0002135	33	154602	rs550814477	8.551e-05	8.619e-05	4.356e-05	0.0001	0.0013	7.312e-05	6.815e-05	0.0011	0.0011	0	0	0	0	0	0	0	0.0002	0.0013	3.282e-05	3.281e-05	0	6.713e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.27	0.16038	T	0.76	0.04807	T	0.024	0.21357	B	0.005	0.17743	B	0.941917	0.07599	N	1.025690	1	0.08975	N	0.74	0.18910	N	-0.63	0.72011	T	-0.45	0.14782	N	0.146	0.16447	-1.0187	0.24139	T	0.083	0.32440	T	10	0.007213056	0.00164	T	0.017562	0.39307	T	0.086	0.25016	0.216	0.13643	0.442775082573	0.43898	0.06625155168573574	0.06564	0.0546562599264	0.06050	0.265461623669	0.05558	T	0.006302	0.05736	T	-0.547316	0.00303	T	-0.577973	0.14727	T	0.0194677687061118	0.00650	T	0.542346	0.18433	T	0.033515308	0.03585	0.025247328	0.00564	0.033515308	0.03585	0.025247328	0.00563	-2.568	0.06504	T	0.14885608612840498	0.17362	0.077	0.06617	B	.;.;.	.;.;.	0.083317	0.04887	1.473	0.48752709516563419	0.04094	0.13000	0.17605	N	AEFGBI	0.051651	0.09146	N	-1.22043069529135	0.04704	0.2128867	-1.15534262548349	0.06672	0.3219591	0.999925121467552	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.52	1.55	0.22356	0.739000	0.25841	-0.371000	0.09606	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.165:0.4211:0.3213:0.0926	3.384	0.06842	967	0.07127	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1488.98	33	chr9	89349806	.	C	G	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-8.790e-01;SOR=0.718	GT:AD:DP:GQ:PL	0/1:85,60:145:99:1503,0,2122	20	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.935	H	-3.73	D	1.004	D	0.941	D	0.414	2.778	15.25	2.15	0.116	2.094	10.600	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	16167.74	344	chr9	92080918	.	G	C	16167.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.447e+00;DP=7903;ExcessHet=54.0936;FS=420.103;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=1.19;SOR=16.175	GT:AD:DP:GQ:PL	0/1:214,118:361:99:543,0,3591	0	0	21	0
chr9	92474746	92474748	TCA	-	exonic	ASPN	.	nonframeshift deletion	ASPN:NM_001193335:exon2:c.150_152del:p.D50del	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/1:38,40,0,0,0,0:78:99:1428,0,1329,1543,1451,2994,1543,1451,2994,2994,1543,1451,2994,2994,2994,1543,1451,2994,2994,2994,2994	1	2	3	0
chr9	92474748	92474748	-	TCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGA:p.D50_E51insD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/1:38,40,0,0,0,0:78:99:1428,0,1329,1543,1451,2994,1543,1451,2994,2994,1543,1451,2994,2994,2994,1543,1451,2994,2994,2994,2994	1	2	3	0
chr9	92474748	92474748	-	TCATCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGATGA:p.D50_E51insDDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/1:38,40,0,0,0,0:78:99:1428,0,1329,1543,1451,2994,1543,1451,2994,2994,1543,1451,2994,2994,2994,1543,1451,2994,2994,2994,2994	1	2	3	0
chr9	92474748	92474748	-	TCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGA:p.D50_E51insDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/1:38,40,0,0,0,0:78:99:1428,0,1329,1543,1451,2994,1543,1451,2994,2994,1543,1451,2994,2994,2994,1543,1451,2994,2994,2994,2994	1	2	3	0
chr9	95107185	95107185	C	T	exonic	FANCC	.	nonsynonymous SNV	FANCC:NM_000136:exon14:c.G1414A:p.G472R	Fanconi anemia, complementation group C, Autosomal recessive	.	1	1516	5	0	0	5	0.00164636	.	.	138038	not_provided|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|Fanconi_anemia_complementation_group_C|not_specified	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	0.053	B	0.073	B	0.126	N	1.000	N	1.5	L	0.81	T	-0.996	T	0.113	T	0.12	2.857	15.52	2.75	0.518	0.369	10.918	0.046	0.00603868157937	.	0.000199681	0.0004	0	0.0003	0	0	4.515e-05	0	0.0026	0.0003363	52	154602	rs201063698	0.0002	0.0002	9.392e-05	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	2.987e-05	4.472e-05	7.652e-05	0	0	0.0010	3.417e-05	0.0001	0.0026	8.535e-05	8.53e-05	2.569e-05	0.0001	0.0017	4.953e-05	3.96e-05	0.0008	0.0006	0	0	6.533e-05	0.0006	0	0	0	1.47e-05	0.0005	0.0017	0.107	0.29554	T	0.141	0.33442	T	0.053	0.22573	B	0.073	0.28123	B	0.126382	0.18806	N	0.508000	1	0.08975	N	1.5	0.37844	L	0.81	0.48460	T	-2.0	0.46146	N	0.131	0.12627	-0.9955	0.31164	T	0.113	0.40445	T	10	0.007597208	0.00173	T	0.006039	0.15787	T	0.046	0.12618	0.554	0.67133	0.663271509172	0.66044	0.09376529359446116	0.09308	0.300820576004	0.32437	0.294713020325	0.09615	T	0.196043	0.55230	T	-0.57642	0.00203	T	-0.606001	0.12312	T	0.0388088933990968	0.03477	T	0.40106	0.10202	T	0.071426064	0.15813	0.095814675	0.22741	0.071426064	0.15813	0.095814675	0.22741	-3.542	0.17025	T	0.21363018038664924	0.28689	0.112	0.22098	B	.;.	.;.	1.129375	0.15156	11.63	0.99647588466187975	0.77068	0.10165	0.15746	N	AEFDGBHCI	0.047065	0.07885	N	-0.784304407345072	0.13717	0.6778491	-0.832340421141015	0.13712	0.712856	0.999999285752186	0.74766	0.626454	0.40138	0	0.653731	0.59785	0	0.80507	0.99327	0	0.692231	0.68500	0	.	.	4.67	2.75	0.31439	0.402000	0.20690	0.518000	0.19139	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6313:0.3687:0.0	10.918	0.46359	167	0.93508	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1574.98	34	chr9	95107185	.	C	T	1574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.206;DP=852;ExcessHet=0.0000;FS=0.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=-1.006e+00;SOR=0.617	GT:AD:DP:GQ:PL	0/1:81,65:146:99:1589,0,2108	20	0	1	0
chr9	98831854	98831854	G	A	exonic	GALNT12	.	nonsynonymous SNV	GALNT12:NM_024642:exon4:c.G814A:p.G272R,	.	.	.	.	.	.	.	.	.	.	.	475014	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.156	B	0.041	B	0.001	N	1.000	D	1.495	L	0.2	T	-1.064	T	0.202	T	0.764	2.163	13.19	4.83	1.427	4.861	12.657	0.240	0.013692603762	7.7e-05	0.000399361	0.0003	0.0003	8.66e-05	0.0001	0	3e-05	0	0.0015	0.0002199	34	154602	rs367645298	0.0001	0.0001	8.848e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	6.708e-05	0	0.0001	0	0.0003	3.237e-05	0.0002	0.0016	0.0001	0.0001	6.423e-05	0.0002	0.0019	8.162e-05	6.719e-05	0.0010	0.0007	0.0002	0	0	0	0	0	0	2.94e-05	0	0.0019	0.29	0.14996	T	0.497	0.11299	T	0.156	0.28196	B	0.041	0.23986	B	0.000890	0.00704	N	6.991890	1	0.81001	D	2.395	0.69210	M	0.2	0.60111	T	-2.19	0.49352	N	0.453	0.49055	-1.0644	0.10689	T	0.202	0.55905	T	10	0.027550817	0.00899	T	0.013693	0.33283	T	0.240	0.54500	0.583	0.70990	0.572793788404	0.56946	0.8353386254684321	0.83493	0.314701398016	0.33750	0.600230455399	0.52937	T	0.034303	0.23266	T	-0.193664	0.21721	T	-0.0810404	0.64827	T	0.0584372427194408	0.06919	T	0.689031	0.29821	T	0.1673557	0.37128	0.16329835	0.37888	0.1673557	0.37127	0.16329835	0.37887	-10.595	0.77391	D	.	.	0.201	0.42549	B	.	.	3.272317	0.44800	22.0	0.98235319393892817	0.39431	0.96213	0.68055	D	AEFBI	0.687940	0.64911	D	-0.0657709345731526	0.38901	2.285574	0.0686339400051023	0.42981	2.609506	0.999999674448264	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.72	4.83	0.61880	5.036000	0.63957	5.834000	0.50189	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.330000	0.25202	0.0803:0.0:0.9197:0.0	12.657	0.56156	855	0.34697	Glycosyltransferase 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1709.98	34	chr9	98831854	.	G	A	1709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.208e+00;DP=854;ExcessHet=0.0000;FS=2.019;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.717;SOR=0.529	GT:AD:DP:GQ:PL	0/1:76,77:153:99:1724,0,1780	20	0	1	0
chr9	99218703	99218703	C	T	exonic	ALG2	.	stopgain	ALG2:NM_033087:exon2:c.G482A:p.W161X,	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.025	29.7	5.16	2.565	7.445	19.019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.828	0.82358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.458503	0.97591	37	0.99695024936768817	0.80180	0.97647	0.76137	D	AEFBCI	0.261998	0.37983	N	0.920796990238025	0.92741	11.601	0.789631596824565	0.89062	9.823793	0.999999999999992	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	7.503000	0.80474	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.019	0.92882	467	0.78285	Glycosyltransferase subfamily 4-like, N-terminal domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	332.5	65	chr9	99218703	.	C	T	332.5	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.994e+00;DP=2231;ExcessHet=1.1607;FS=161.960;InbreedingCoeff=-0.1551;MLEAC=5;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=1.94;SOR=11.886	GT:AD:DP:GQ:PL	0/1:89,26:115:24:24,0,1805	15	0	5	1
chr9	109091095	109091095	G	T	exonic	TMEM245	.	nonsynonymous SNV	TMEM245:NM_032012:exon5:c.C977A:p.P326H,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.547	P	0.323	B	0.935	N	0.971	N	0	N	1.95	T	-1.009	T	0.036	T	0.29	3.865	19.64	4.76	1.358	3.769	9.020	0.065	0.00483384919212	0.0006	0.000399361	0.0008	0.0001	0.0010	0	0.0002	0.0010	0	0.0014	0.0008473	131	154602	rs199515741	0.0011	0.0011	0.0011	0.0011	0.0017	0.0010	0.0010	0.0015	0.0014	0.0002	0.0008	3.827e-05	0	7.489e-05	0.0007	0.0012	0.0008	0.0017	0.0007	0.0007	0.0008	0.0006	0.0017	0.0006	0.0006	0.0010	0.0009	0.0003	0	0.0005	0	0	0	0	0.0012	0	0.0017	0.035	0.43708	D	0.014	0.62352	D	0.412	0.35138	B	0.125	0.32635	B	0.934907	0.07558	N	1.028860	0.970886	0.25681	N	0.69	0.16971	N	1.95	0.22474	T	-1.36	0.33798	N	0.143	0.14338	-1.0087	0.27323	T	0.036	0.15726	T	10	0.017880827	0.00385	T	0.004834	0.12098	T	0.065	0.18881	.	.	0.212008924253	0.20833	0.337183902773412	0.33631	0.419929303687	0.42531	0.310352265835	0.11960	T	0.072942	0.34577	T	-0.483826	0.00703	T	-0.474235	0.25060	T	0.0413853751210949	0.03942	T	0.663034	0.27207	T	0.060086157	0.12289	0.0835302	0.19148	0.060086157	0.12288	0.0835302	0.19148	-7.265	0.55946	T	.	.	0.084	0.09627	B	.	.	3.652974	0.51852	23.2	0.99417159398226784	0.63597	0.98142	0.79959	D	AEFBI	0.252740	0.37236	N	-0.0695850108684635	0.38731	2.273054	0.0699153487077134	0.43045	2.614438	0.999870470223996	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	4.76	0.60189	4.822000	0.62377	8.370000	0.77046	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.733000	0.35199	0.0778:0.1553:0.7668:0.0	9.020	0.35357	772	0.48957	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1456.98	33	chr9	109091095	.	G	T	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e+00;DP=798;ExcessHet=0.0000;FS=5.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.34;ReadPosRankSum=-2.158e+00;SOR=1.306	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1471,0,1294	20	0	1	0
chr9	109433112	109433112	G	T	exonic	PTPN3	.	nonsynonymous SNV	PTPN3:NM_001145369:exon5:c.C332A:p.A111D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	1.845	L	-2.22	D	0.628	D	0.754	D	0.966	2.884	15.61	5.18	1.576	7.866	17.191	0.756	0.161024333736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.47320	D	0.427	0.44905	T	0.996	0.68779	D	0.958	0.70027	D	0.000000	0.84330	D	0.049492	0.99998	0.54805	D	2.175	0.60977	M	-2.22	0.87038	D	-2.76	0.58896	D	0.957	0.96758	0.628	0.92262	D	0.754	0.91623	D	10	0.8903005	0.88370	D	0.161024	0.84090	D	0.756	0.91668	0.599	0.72984	0.937419472767	0.93676	0.8695157578229185	0.86916	1.05196235552	0.76184	0.645616173744	0.59362	T	0.659116	0.96537	D	0.385944	0.89083	D	0.316605	0.88946	D	0.9822638630867	0.74389	D	0.912409	0.69637	D	0.5533887	0.70144	0.59726745	0.76614	0.5533887	0.70145	0.59726745	0.76615	-13.065	0.89629	D	.	.	0.995	0.95677	P	.;.;.;.	.;.;.;.	5.190051	0.87047	29.1	0.99341610750760168	0.60210	0.97530	0.75350	D	AEFBI	0.842770	0.75985	D	0.425711770043033	0.62840	4.506744	0.379325859018326	0.60291	4.215148	0.999998243382134	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	6.08	5.18	0.71140	7.621000	0.82276	11.795000	0.96485	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.060000	0.15972	0.0:0.1262:0.8738:0.0	17.191	0.86760	852	0.35056	.;.;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	49.98	35	chr9	109433112	.	G	T	49.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.658e+00;DP=810;ExcessHet=0.0000;FS=78.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=-3.670e-01;SOR=6.357	GT:AD:DP:GQ:PL	0/1:89,23:112:64:64,0,2079	20	0	1	0
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.977	D	0.002	N	0.528	D	1.87	L	0.88	T	-0.548	T	0.199	T	0.636	0.801	8.213	4.73	1.367	2.869	8.596	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1628.87	70	chr9	110137052	.	G	C	1628.87	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-2.866e+00;DP=1349;ExcessHet=3.5521;FS=192.403;InbreedingCoeff=-0.3771;MLEAC=10;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.60;ReadPosRankSum=0.889;SOR=10.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,10:68:42:.:.:42,0,2440	6	0	8	7
chr9	110137054	110137054	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084C:p.A362P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.996	D	0.000	D	0.802	D	1.445	L	0.85	T	-0.701	T	0.211	T	0.556	0.977	8.990	4.46	2.691	3.205	11.752	0.106	0.0240367102959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.656e-05	0.0033	4.12e-05	3.187e-05	0.0002	2.851e-05	2.586e-05	3.493e-05	3.152e-05	3.008e-05	0	3.836e-05	0	0	0.0002	4.541e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.206	0.31833	T	0.98	0.77913	D	0.731	0.84481	P	0.000361	0.45440	D	0.192211	0.801683	0.34520	D	1.6	0.40776	L	0.85	0.47130	T	-0.13	0.17417	N	0.259	0.43029	-0.7007	0.60404	T	0.211	0.57174	T	10	0.23016733	0.39961	T	0.024037	0.47022	T	0.106	0.30130	0.217	0.13788	0.713993983955	0.71148	0.23740471580261735	0.29225	0.516168458663	0.49506	0.390263020992	0.23706	T	0.030762	0.21729	T	-0.0678756	0.41665	T	-0.335275	0.40877	T	0.783624947071075	0.45278	D	0.90061	0.65471	D	0.24448925	0.47398	0.26249248	0.52042	0.24448925	0.47398	0.26249248	0.52041	-8.416	0.66933	D	.	.	0.663	0.75561	P	.;.;.;.;.;.	.;.;.;.;.;.	4.039548	0.59798	24.1	0.98775053701776594	0.46033	0.67690	0.33524	D	AEFBCIJ	0.269496	0.38576	N	0.281387811107843	0.55205	3.684758	0.278666808938951	0.54296	3.594986	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	1505.95	70	chr9	110137054	.	G	C,A	1505.95	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.967e+00;DP=1369;ExcessHet=2.5830;FS=184.238;InbreedingCoeff=-0.2728;MLEAC=2,6;MLEAF=0.059,0.176;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.29;SOR=10.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,10,0:77:41:0|1:110137053_G_C:41,0,2468,241,2498,2739:110137053	10	0	2	4
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.997	D	0.989	D	0.000	D	0.555	D	1.79	L	0.82	T	-0.607	T	0.231	T	0.281	1.466	10.85	4.46	2.691	3.205	11.752	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	1505.95	70	chr9	110137054	.	G	C,A	1505.95	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.967e+00;DP=1369;ExcessHet=2.5830;FS=184.238;InbreedingCoeff=-0.2728;MLEAC=2,6;MLEAF=0.059,0.176;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.29;SOR=10.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,10,0:77:41:0|1:110137053_G_C:41,0,2468,241,2498,2739:110137053	10	0	2	4
chr9	110408819	110408819	G	T	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon38:c.C6781A:p.P2261T,	.	.	.	.	.	.	.	.	.	.	.	2266109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.89	P	0.343	B	0.000	D	1.000	D	3.3	M	0.72	T	-0.596	T	0.227	T	0.268	2.151	13.15	5.95	2.824	6.355	20.393	0.264	0.0109744997525	.	.	8.284e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs753766016	8.214e-06	8.209e-06	4.086e-06	1.238e-05	0.0001	4.38e-06	3.46e-06	7.997e-05	6.236e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.42086	T	0.89	0.48942	P	0.343	0.42509	B	0.000006	0.62929	D	0.115441	0.998683	0.45275	D	2.63	0.76995	M	.	.	.	.	.	.	0.202	0.22357	-0.5962	0.64971	T	0.227	0.59171	T	10	0.3055741	0.48074	T	0.010974	0.28104	T	0.264	0.57741	0.449	0.50957	0.043077524339	0.03247	0.3171779498306342	0.31630	0.412880554843	0.42014	0.474641591311	0.35320	T	0.026387	0.19537	T	-0.186025	0.22842	T	-0.302335	0.44477	T	0.676724910736084	0.39640	D	0.723828	0.33737	T	0.24021193	0.46921	0.27026746	0.52916	0.24021193	0.46921	0.27026746	0.52915	-9.385	0.70141	D	.	.	0.129	0.27583	B	.;.	.;.	2.644178	0.34410	19.62	0.99126531756263647	0.53142	0.97607	0.75865	D	AEFDBI	0.814195	0.73648	D	0.585326771073769	0.72257	5.777527	0.6022109598962	0.75100	6.251213	0.999995898346675	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	6.476000	0.73497	11.802000	0.96681	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:0.0:1.0:0.0	20.393	0.98966	968	0.07033	Sushi/SCR/CCP domain;Sushi/SCR/CCP domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2460.98	93	chr9	110408819	.	G	T	2460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.540e+00;DP=1494;ExcessHet=0.0000;FS=1.050;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.193;SOR=0.790	GT:AD:DP:GQ:PL	0/1:123,96:219:99:2475,0,3319	20	0	1	0
chr9	111713160	111713160	T	C	exonic	SHOC1	.	nonsynonymous SNV	SHOC1:NM_001378212:exon13:c.A2014G:p.I672V	.	.	838	646	27	11	0	49	0.0365399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.802	P	0.337	B	0.017	N	1.000	N	0.975	L	3.6	T	-0.991	T	0.012	T	0.158	1.669	11.54	1.57	0.352	0.722	7.601	0.051	.	0.0012	0.00399361	0.0067	0.0001	0.0012	0	0.0002	0.0030	0.0056	0.0327	0.0043919	679	154602	rs77603777	0.0026	0.0026	0.0017	0.0035	0.0273	0.0025	0.0025	0.0264	0.0260	0.0001	0.0008	0.0049	5.142e-05	9.446e-05	0.0120	0.0009	0.0028	0.0273	0.0018	0.0018	0.0012	0.0023	0.0222	0.0016	0.0015	0.0188	0.0175	0.0003	0	0.0017	0.0043	0	0	0.0170	0.0015	0.0014	0.0222	0.112	0.35537	T	0.159	0.31527	T	.	.	.	.	.	.	0.016668	0.27917	N	0.310911	0.960653	0.26138	N	.	.	.	3.58	0.04594	T	0.01	0.06868	N	0.186	0.25006	-0.9908	0.32398	T	0.012	0.04510	T	10	0.005660802	0.00126	T	.	.	.	0.051	0.14325	.	.	0.0297737177859	0.01360	0.12250603467386734	0.12177	0.238885580098	0.26443	.	.	.	.	.	.	-0.575007	0.00207	T	-0.578462	0.14682	T	0.0271089205306504	0.01560	T	0.608739	0.23867	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.30211	B	.;.;.;.	.;.;.;.	1.732206	0.22045	15.46	0.9281016935863946	0.22335	0.75720	0.37088	D	AEFGI	0.152045	0.27665	N	-0.20663209233838	0.32861	1.857969	-0.156974835452625	0.33140	1.89268	0.322556305796933	0.19399	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.53	1.57	0.22490	0.737000	0.25812	0.461000	0.18618	0.587000	0.30956	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.1311:0.0:0.2731:0.5958	7.601	0.27245	362	0.84826	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	3004.68	34	chr9	111713160	.	T	C	3004.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.130e-01;DP=900;ExcessHet=0.3300;FS=0.450;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=1.23;SOR=0.725	GT:AD:DP:GQ:PL	0/1:44,42:86:99:981,0,1056	18	0	3	0
chr9	113425366	113425368	GCA	-	exonic	C9orf43	.	nonframeshift deletion	C9orf43:NM_001278629:exon10:c.888_890del:p.Q304del	.	.	0	191	29	0	6	35	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0455	.	0.0077	0.0081	0.0088	0.0112	0.0082	0.0065	0.0057	0.0093	0.0003074	8	26028	rs371732185	9.978e-05	0.0028	8.758e-05	0.0001	0.0007	8.629e-05	8.095e-05	0.0002	0.0001	6.014e-05	9.044e-05	7.73e-05	0.0002	0.0002	0.0007	9.397e-05	3.334e-05	0.0001	1.317e-05	3.94e-05	1.288e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	2.413e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1735.12	34	chr9	113425365	.	GGCA	G,GGCAGCA	1735.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.392;DP=680;ExcessHet=0.6776;FS=4.348;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-5.560e-01;SOR=1.079	GT:AD:DP:GQ:PL	0/2:15,0,15:30:99:568,613,1202,0,589,544	17	0	1	0
chr9	113425368	113425368	-	GCA	exonic	C9orf43	.	nonframeshift insertion	C9orf43:NM_001278629:exon10:c.890_891insGCA:p.Q304_K305insQ	.	.	0	191	29	0	6	35	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1735.12	34	chr9	113425365	.	GGCA	G,GGCAGCA	1735.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.392;DP=680;ExcessHet=0.6776;FS=4.348;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-5.560e-01;SOR=1.079	GT:AD:DP:GQ:PL	0/2:15,0,15:30:99:568,613,1202,0,589,544	17	0	1	0
chr9	113583835	113583835	C	A	exonic	RGS3	.	nonsynonymous SNV	RGS3:NM_001276260:exon2:c.C386A:p.T129N	.	.	424	1085	12	1	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.257	B	0.074	B	0.631	N	0.956	D	0	N	0.97	T	-1.043	T	0.064	T	0.022	1.893	12.29	1.48	0.340	-0.179	1.652	0.065	0.0116383772757	0.0016	0.00139776	0.0020	0.0002	0.0010	0	0.0006	0.0021	0.0033	0.0047	0.0018176	281	154602	rs144636307	0.0018	0.0018	0.0017	0.0019	0.0054	0.0017	0.0017	0.0039	0.0037	0.0002	0.0009	0.0039	2.519e-05	0.0005	0.0054	0.0017	0.0019	0.0042	0.0010	0.0010	0.0011	0.0009	0.0035	0.0009	0.0008	0.0022	0.0018	0.0002	0.0088	0.0005	0.0035	0.0002	0.0004	0.0034	0.0013	0.0009	0.0035	0.006	0.61437	D	0.474	0.15842	T	0.097	0.25541	B	0.016	0.17743	B	0.630887	0.10688	N	0.812091	0.956274	0.37966	D	0	0.06538	N	0.97	0.56281	T	0.08	0.09460	N	0.087	0.09631	-1.0432	0.16354	T	0.064	0.26385	T	10	0.0032565594	0.00056	T	0.011638	0.29466	T	0.065	0.18881	.	.	0.401185642668	0.39728	0.12725123018716517	0.12651	0.240522541658	0.26595	0.288265168667	0.08670	T	0.056486	0.30300	T	-0.597793	0.00150	T	-0.631472	0.10304	T	0.00878968984380188	0.00108	T	0.666633	0.27564	T	0.2586204	0.48912	0.08210692	0.18713	0.2586204	0.48912	0.08210692	0.18712	-4.236	0.30652	T	.	.	0.084	0.10739	B	.;.;.;.;.	.;.;.;.;.	0.603442	0.09717	6.488	0.93831056247187894	0.23818	0.14723	0.18552	N	AEFDBCI	0.068592	0.13537	N	-0.92594889838333	0.10238	0.4882922	-0.928952033967369	0.11413	0.581253	0.999957443507595	0.48110	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.42	1.48	0.21900	0.387000	0.20445	0.891000	0.22473	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.219000	0.22435	0.1685:0.4829:0.1638:0.1849	1.652	0.02606	866	0.32446	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3689.11	34	chr9	113583835	.	C	A	3689.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.27;DP=1012;ExcessHet=0.1072;FS=3.045;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=1.61;SOR=0.829	GT:AD:DP:GQ:PL	0/1:75,80:155:99:2013,0,1972	19	0	2	0
chr9	117141455	117141455	T	C	exonic	ASTN2	.	nonsynonymous SNV	ASTN2:NM_001365068:exon4:c.A1039G:p.T347A	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	B	0.031	B	0.001	D	1.000	D	.	.	3.0	T	-1.007	T	0.014	T	0.344	1.723	11.72	3.92	0.760	4.261	10.610	0.036	0.046346824114	0.0005	0.000599042	0.0003	9.815e-05	8.714e-05	0	0	0.0006	0.0011	0	0.000401	62	154602	rs145294644	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	3.803e-05	5.364e-05	0	0	6.193e-05	0.0004	0.0005	0.0003	2.403e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	7.227e-05	0	0.0002	0	0	9.436e-05	0	0.0005	0	0	0.289	0.15047	T	1.0	0.01155	T	0.01	0.15535	B	0.014	0.16862	B	0.000609	0.42945	D	0.161551	0.828244	0.81001	D	-0.205	0.04094	N	3.0	0.10674	T	0.15	0.05310	N	0.722	0.72388	-1.0068	0.27912	T	0.014	0.05608	T	8	0.013021231	0.00278	T	0.046347	0.62414	D	0.036	0.09122	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	0.015416	0.12934	T	-0.487414	0.00671	T	-0.49754	0.22603	T	0.0420679653765567	0.04068	T	0.654235	0.26451	T	0.064749636	0.13768	0.05848351	0.10815	0.064749636	0.13767	0.05848351	0.10814	-2.83	0.08463	T	.	.	0.170	0.37426	B	.;.	.;.	3.056098	0.41027	21.3	0.93499883910775394	0.23306	0.88432	0.48357	D	AEFI	0.595651	0.59012	D	-0.166837848834321	0.34521	1.971382	-0.0264124213854862	0.38525	2.271045	0.209845066295985	0.18225	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.06	3.92	0.44525	3.967000	0.56509	6.529000	0.55853	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.1791:0.8209	10.610	0.44609	824	0.40336	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1992.98	34	chr9	117141455	.	T	C	1992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=990;ExcessHet=0.0000;FS=1.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-1.143e+00;SOR=0.803	GT:AD:DP:GQ:PL	0/1:106,81:187:99:2007,0,2678	20	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A,	.	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.012	B	0.119	N	1.000	N	1.045	L	8.47	T	-0.981	T	0.000	T	0.241	-0.246	2.815	3.09	0.623	0.717	7.537	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	0	0	0	0	0	0	0	0	0	0	0	0.4286	10749.2	301	chr9	122724732	.	T	C	10749.2	.	AC=12;AF=0.429;AN=28;BaseQRankSum=8.60;DP=6952;ExcessHet=9.6308;FS=27.314;InbreedingCoeff=-0.5849;MLEAC=15;MLEAF=0.536;MQ=58.33;MQRankSum=-1.529e+01;QD=2.73;ReadPosRankSum=-7.300e+00;SOR=4.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,48:336:99:0|1:122724732_T_C:1110,0,11851:122724732	2	0	12	7
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.003	B	0.363	N	1.000	N	-0.46	N	0.93	T	-1.008	T	0.042	T	0.097	-1.802	0.009	-7.85	-1.692	-2.805	8.760	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	.	.	.	.	.	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	0.3529	6434.01	290	chr9	122724738	.	T	C	6434.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.102;DP=5824;ExcessHet=9.6308;FS=29.363;InbreedingCoeff=-0.5013;MLEAC=14;MLEAF=0.412;MQ=58.45;MQRankSum=-1.685e+01;QD=1.74;ReadPosRankSum=-6.376e+00;SOR=6.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,40:322:99:0|1:122724732_T_C:831,0,11660:122724732	5	0	12	4
chr9	124898590	124898590	G	A	exonic	GOLGA1	.	nonsynonymous SNV	GOLGA1:NM_002077:exon15:c.C1366T:p.R456C,	.	.	.	.	.	.	.	.	.	.	.	2327459	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.004	B	0.0	B	0.250	N	0.999	N	-0.205	N	1.79	T	-1.024	T	0.030	T	0.068	1.192	9.846	0.911	0.367	0.768	3.547	0.072	0.00534674648005	0.0002	.	0.0003	0	8.639e-05	0	0.0002	0.0003	0	0.0007	0.0002587	40	154602	rs145802446	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	8.984e-05	0.0002	0	2.522e-05	1.873e-05	0	0.0002	0.0001	0.0006	0.0002	0.0002	0.0002	0.0001	0.0007	0.0001	0.0001	0.0004	0.0003	4.825e-05	0	0.0007	0	0	0	0	0.0002	0	0.0002	0.101	0.30375	T	0.074	0.42976	T	0.004	0.12183	B	0.0	0.01387	B	0.249924	0.03640	N	1.640840	0.999408	0.21245	N	1.15	0.29295	L	1.79	0.25509	T	-1.94	0.45042	N	0.11	0.09631	-1.0242	0.22344	T	0.030	0.12848	T	10	0.017940342	0.00386	T	0.005347	0.13710	T	0.072	0.21020	.	.	0.256283259241	0.25257	0.09652525677952846	0.09584	0.320752863791	0.34277	0.22121232748	0.01381	T	0.017065	0.13986	T	-0.549612	0.00293	T	-0.658506	0.08368	T	0.0286806595169057	0.01789	T	0.792821	0.43457	T	0.05980219	0.12196	0.049725432	0.07656	0.05980219	0.12196	0.049725432	0.07656	-6.166	0.47647	T	.	.	0.071	0.03925	B	.	.	2.566114	0.33239	19.28	0.95873070288754514	0.28052	0.12666	0.17407	N	AEFDBI	0.073392	0.14679	N	-0.800790940657859	0.13289	0.6536553	-0.716269094949666	0.16556	0.8763771	0.999437306929572	0.39683	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.44	0.911	0.18471	0.706000	0.25365	1.971000	0.29987	0.676000	0.76740	0.450000	0.26566	0.969000	0.29651	0.918000	0.45347	0.2787:0.0:0.5102:0.2112	3.547	0.07387	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1371.98	35	chr9	124898590	.	G	A	1371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.340e-01;DP=808;ExcessHet=0.0000;FS=2.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-7.450e-01;SOR=0.698	GT:AD:DP:GQ:PL	0/1:64,57:121:99:1386,0,1587	20	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.58	P	0.16	B	0.012	N	1.000	D	1.87	L	0.85	T	-1.078	T	0.089	T	0.151	2.394	13.96	2.23	0.458	0.075	3.228	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	2743.82	57	chr9	127707148	.	G	C,A	2743.82	.	AC=11,6;AF=0.275,0.150;AN=40;BaseQRankSum=-9.810e-01;DP=1576;ExcessHet=25.1139;FS=227.043;InbreedingCoeff=-0.7001;MLEAC=11,6;MLEAF=0.275,0.150;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=0.651;SOR=11.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,12,9:75:60:.:.:154,0,2138,60,836,869	3	0	11	1
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	1.0	D	0.993	D	0.000	D	1.000	D	2.175	M	1.1	T	-0.776	T	0.227	T	0.925	4.505	24.2	5.46	2.075	5.688	13.490	0.321	0.0295012344328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.025e-05	0.0013	2.604e-05	1.446e-05	3.126e-05	1.404e-05	1.209e-05	1.739e-05	1.477e-05	3.126e-05	0	0	0	0	0	2.5e-05	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.105467	0.99989	0.50595	D	.	.	.	1.1	0.39050	T	-7.17	0.94145	D	0.892	0.90025	-0.7757	0.56542	T	0.227	0.59233	T	10	0.62868714	0.68391	D	0.029501	0.51995	D	0.321	0.64318	0.292	0.25400	0.617737460462	0.61464	0.8563961070607592	0.85602	1.09668489094	0.77603	.	.	.	0.333157	0.70304	T	0.256066	0.79166	D	0.130044	0.78896	D	0.995957314968109	0.88384	D	0.631737	0.24648	T	0.883188	0.89932	0.88241297	0.93731	0.883188	0.89933	0.88241297	0.93731	-12.272	0.88445	D	.	.	0.839	0.79209	P	.;.	.;.	4.916668	0.80938	27.4	0.99871547018832008	0.94902	0.88781	0.48875	D	AEFDGBCI	0.697108	0.65523	D	0.612068453635021	0.73938	6.048333	0.59676151836649	0.74706	6.182971	0.9999999998598	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	5.46	0.80021	5.665000	0.67722	5.919000	0.51137	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	13.490	0.60843	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1185.39	50	chr9	127707150	.	T	C	1185.39	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.872e+00;DP=1368;ExcessHet=4.7172;FS=144.390;InbreedingCoeff=-0.2762;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.908;SOR=10.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,17:85:40:.:.:40,0,1850	12	0	9	0
chr9	128066975	128066975	C	T	exonic	NAIF1	.	nonsynonymous SNV	NAIF1:NM_197956:exon1:c.G127A:p.A43T,	.	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.031	B	0.013	B	0.000	D	1.000	D	0.41	N	.	.	-1.071	T	0.070	T	0.243	2.723	15.07	4.32	1.198	3.475	9.255	0.041	0.00509239297742	0.0026	0.000998403	0.0031	0.0008	0.0019	0	0.0006	0.0048	0.0034	0.0015	0.0032018	495	154602	rs143478210	0.0044	0.0044	0.0045	0.0044	0.0053	0.0044	0.0043	0.0052	0.0051	0.0007	0.0019	0.0007	0	0.0008	0.0021	0.0053	0.0043	0.0018	0.0025	0.0025	0.0027	0.0021	0.0041	0.0022	0.0022	0.0037	0.0036	0.0009	0	0.0022	0.0023	0	0.0005	0	0.0041	0.0028	0.0012	0.254	0.16903	T	0.276	0.21947	T	0.031	0.20130	B	0.013	0.16460	B	0.000000	0.84330	D	0.051719	0.999849	0.49770	D	0.6	0.15550	N	.	.	.	-0.52	0.16187	N	0.196	0.21580	-1.0711	0.09173	T	0.070	0.28445	T	9	0.0072960556	0.00166	T	0.005092	0.12908	T	0.041	0.10877	.	.	0.212008924253	0.20833	0.6562973301847608	0.65565	0.833681432274	0.67729	0.666677236557	0.62364	T	0.018635	0.14986	T	-0.424669	0.01598	T	-0.378639	0.35882	T	0.0591798481655424	0.07039	T	0.728927	0.34400	T	0.1776007	0.38735	0.25585455	0.51275	0.1776007	0.38734	0.25585455	0.51274	-6.186	0.47809	T	.	.	0.089	0.12371	B	.	.	3.431867	0.47700	22.5	0.99523084016120988	0.69346	0.90658	0.52018	D	AEFDGBCIJ	0.243239	0.36455	N	-0.326984694636836	0.28128	1.548838	-0.122076297032816	0.34501	1.985305	0.99999999966649	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.581474	0.35302	0	.	.	5.21	4.32	0.50899	3.535000	0.53331	5.966000	0.51911	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.752000	0.35857	0.0:0.8356:0.0:0.1644	9.255	0.36735	233	0.90919	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1097.98	42	chr9	128066975	.	C	T	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.400e-02;DP=944;ExcessHet=0.0000;FS=2.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=0.024;SOR=0.972	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1112,0,1221	20	0	1	0
chr9	128634837	128634837	C	T	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1066A:p.G356S,	.	.	415	1082	24	1	0	26	0.0118721	.	.	458911	not_provided|DYNC2I2-related_disorder|Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly	MedGen:C3661900|.|MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.402	B	0.119	B	0.000	D	1.000	D	1.91	M	1.65	T	-1.085	T	0.061	T	0.855	3.786	19.22	5.24	2.448	5.565	17.824	0.183	0.111733181486	0.0028	0.00339457	0.0044	0.0005	0.0064	0	0.0006	0.0046	0.0050	0.0077	0.0036998	572	154602	rs17849504	0.0029	0.0030	0.0026	0.0033	0.0083	0.0029	0.0028	0.0078	0.0076	0.0004	0.0043	0.0083	5.039e-05	0.0015	0.0080	0.0025	0.0039	0.0083	0.0027	0.0027	0.0027	0.0026	0.0079	0.0024	0.0024	0.0059	0.0052	0.0005	0	0.0020	0.0101	0.0004	0.0019	0.0102	0.0037	0.0024	0.0079	0.164	0.23360	T	0.187	0.28764	T	0.402	0.34891	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	1.65	0.27650	T	-2.12	0.48184	N	0.635	0.64818	-1.0853	0.06353	T	0.061	0.25635	T	10	0.014472216	0.00304	T	0.111733	0.78962	D	0.183	0.45592	.	.	0.350524144436	0.34660	0.663641422864043	0.66301	0.353134030552	0.37127	0.622149705887	0.56032	T	0.057986	0.30717	T	-0.169954	0.25242	T	-0.012058	0.69550	D	0.0169857053249468	0.00448	T	0.785321	0.42297	T	0.29473332	0.52428	0.22070257	0.46855	0.29473332	0.52428	0.22070257	0.46854	-6.276	0.48532	T	.	.	0.150	0.33203	B	.	.	3.101871	0.41810	21.4	0.99747808364856505	0.84002	0.95916	0.66708	D	AEFDGBCI	0.831345	0.74990	D	0.0751261407202568	0.45305	2.789209	0.149914993195619	0.47136	2.948535	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	5.24	0.72863	5.642000	0.67561	7.528000	0.59870	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	17.824	0.88570	389	0.83303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5394.68	36	chr9	128634837	.	C	T	5394.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.857;DP=1077;ExcessHet=0.3300;FS=0.517;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=1.16;SOR=0.664	GT:AD:DP:GQ:PL	0/1:72,110:182:99:2735,0,1665	18	0	3	0
chr9	128999742	128999742	G	T	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon34:c.G3780T:p.E1260D,	.	.	425	1062	31	4	0	39	0.0180305	.	.	1687699	NUP188-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.11	T	0.007	B	0.004	B	0.000	D	1.000	D	1.355	L	1.3	T	-1.087	T	0.047	T	0.163	2.034	12.76	2.32	0.574	1.147	6.476	0.054	.	0.0037	0.00459265	0.0053	0.0010	0.0041	0	0.0002	0.0053	0.0077	0.0136	0.0051487	796	154602	rs147959429	0.0057	0.0057	0.0054	0.0060	0.0146	0.0056	0.0055	0.0139	0.0137	0.0011	0.0049	0.0052	7.557e-05	0.0006	0.0132	0.0055	0.0068	0.0146	0.0043	0.0043	0.0042	0.0045	0.0126	0.0041	0.0039	0.0101	0.0092	0.0010	0.0011	0.0104	0.0049	0.0002	0.0005	0.0238	0.0051	0.0099	0.0126	0.1	0.30515	T	0.13	0.34716	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.049497	0.999938	0.51612	D	1.21	0.30464	L	1.3	0.35590	T	-1.39	0.34397	N	0.219	0.24510	-1.0873	0.05995	T	0.047	0.20037	T	10	0.0067179203	0.00152	T	.	.	.	0.054	0.15330	0.288	0.24761	0.138757226776	0.13463	0.1281385805638429	0.12738	0.165499226601	0.18665	0.433647572994	0.29707	T	0.023	0.17867	T	-0.515755	0.00466	T	-0.501947	0.22145	T	0.0127255447813224	0.00215	T	0.80032	0.44603	T	0.09218572	0.21620	0.08854248	0.20650	0.09218572	0.21620	0.08854248	0.20650	-3.944	0.22963	T	.	.	0.073	0.04599	B	.	.	1.942941	0.24678	16.49	0.99142352313699977	0.53573	0.78145	0.38511	D	AEFDGBCI	0.280364	0.39420	N	-0.334370868506915	0.27851	1.531367	-0.221038961486426	0.30783	1.736232	0.999996208120048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.28	2.32	0.27895	1.020000	0.29629	1.802000	0.28890	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.2262:0.0:0.6408:0.1329	6.476	0.21238	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	0.04762	1783.11	34	chr9	128999742	.	G	T	1783.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.129e+00;DP=941;ExcessHet=0.1072;FS=1.765;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=0.357;SOR=0.830	GT:AD:DP:GQ:PL	0/1:69,45:114:99:982,0,1756	19	0	2	0
chr9	129177547	129177547	G	T	exonic	IER5L	.	nonsynonymous SNV	IER5L:NM_203434:exon1:c.C506A:p.P169H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.001	B	0.245	U	0.960	N	-0.345	N	2.91	T	-0.981	T	0.011	T	0.023	1.619	11.37	1.3	1.250	-0.104	6.140	0.040	0.250800381577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.12837	T	0.566	0.08930	T	0.0	0.02946	B	0.001	0.04355	B	0.244602	0.15638	U	0.576285	0.960419	0.26148	N	0	0.06538	N	2.91	0.10008	T	-0.88	0.23808	N	0.073	0.04668	-0.9810	0.34771	T	0.011	0.04274	T	10	0.07866463	0.12563	T	0.251	0.89106	D	0.040	0.10527	0.36	0.36385	0.043077524339	0.03247	0.2967883083256397	0.29591	1.03899564238	0.75721	0.898693680763	0.96294	D	0.002453	0.01845	T	-0.389823	0.02697	T	-0.79773	0.01960	T	0.0858484431117823	0.10718	T	0.369363	0.08678	T	0.2199485	0.44539	0.1406764	0.33524	0.2199485	0.44539	0.1406764	0.33524	-4.894	0.35667	T	.	.	0.137	0.29860	B	.	.	2.924112	0.38829	20.8	0.94638752515545466	0.25233	0.04259	0.09790	N	AEFDBHCIJ	0.030649	0.03127	N	-0.717546911593234	0.15528	0.7833757	-0.598887842497485	0.19521	1.047771	0.9999999315482	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.608004	0.38603	0	0.621717	0.48901	0	.	.	2.42	1.3	0.20778	0.743000	0.25899	6.739000	0.56479	0.269000	0.18496	0.974000	0.34632	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.5151:0.4849	6.140	0.19474	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.0625	33.57	1	chr9	129177547	.	G	T	33.57	.	AC=2;AF=0.063;AN=32;DP=92;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3057;MLEAC=2;MLEAF=0.063;MQ=60.00;QD=16.78;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	15	1	0	5
chr9	131129294	131129294	C	T	exonic	NUP214	.	nonsynonymous SNV	NUP214:NM_001318324:exon4:c.C409T:p.R137C	Leukemia, T-cell acute lymphoblastic, somatic;Leukemia, acute myeloid, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.805	P	0.001	N	1.000	D	1.7	L	-3.33	D	0.640	D	0.811	D	0.727	3.487	17.84	5.67	2.680	2.272	13.700	0.616	0.0807370355609	.	0.000199681	0.0002	0	0	0	0	0	0	0.0015	0.0001682	26	154602	rs555034285	7.115e-05	7.114e-05	4.22e-05	0.0001	0.0010	5.981e-05	5.588e-05	0.0008	0.0008	0	0	0	0	0	0.0002	1.349e-05	3.312e-05	0.0010	4.596e-05	4.594e-05	2.57e-05	6.714e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	0.032	0.57480	D	0.015	0.83351	D	1.0	0.90584	D	0.805	0.58399	P	0.001492	0.38855	N	0.000000	0.999669	0.48141	D	2.14	0.59869	M	-3.33	0.93928	D	-3.13	0.80595	D	0.417	0.45709	0.640	0.92416	D	0.811	0.93629	D	10	0.053919464	0.05658	T	0.080737	0.73527	D	0.616	0.85039	0.437	0.48993	0.880420470531	0.87924	0.45773535944176413	0.45691	0.107737316608	0.12158	0.501794099808	0.39078	T	0.649263	0.89337	D	-0.0242667	0.48243	T	0.162287	0.80946	D	0.198747725035602	0.20347	T	0.907909	0.67748	D	0.13521133	0.31389	0.1440439	0.34211	0.2615141	0.49210	0.18097547	0.40931	-5.776	0.44496	T	.	.	0.184	0.39848	B	.;.;.	.;.;.	5.473066	0.91297	32	0.99926927094640872	0.99103	0.91371	0.53399	D	AEFBCI	0.311184	0.41699	N	0.507050539223267	0.67505	5.09073	0.507610124434922	0.68500	5.228837	0.999998858220955	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.67	5.67	0.87673	2.487000	0.44926	4.927000	0.46095	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.154:0.846:0.0:0.0	13.700	0.62084	370	0.84343	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1609.98	35	chr9	131129294	.	C	T	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.035e+00;DP=789;ExcessHet=0.0000;FS=1.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.33;ReadPosRankSum=1.91;SOR=0.973	GT:AD:DP:GQ:PL	0/1:45,60:105:99:1624,0,1139	20	0	1	0
chr9	131525948	131525948	C	A	exonic	UCK1	.	nonsynonymous SNV	UCK1:NM_001135954:exon5:c.G538T:p.A180S,	.	.	441	12	103	962	4	2031	0.988298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.000	P	.	.	.	.	-1.006	T	0.084	T	.	1.509	11.00	-5.08	-1.075	-1.779	8.437	0.047	.	.	0.00359425	0.0115	0.0019	0.0029	0	0.0449	0.0153	0.0165	0.0005	0.0101616	1571	154602	rs2296957	0.0096	0.0096	0.0096	0.0095	0.0095	0.0094	0.0094	0.0093	0.0093	0.0010	0.0026	0.0129	0	0.0450	0.0040	0.0095	0.0079	0.0007	0.0100	0.0100	0.0094	0.0106	0.0126	0.0096	0.0094	0.0119	0.0117	0.0019	0.0022	0.0045	0.0130	0	0.0421	0.0102	0.0126	0.0076	0.0006	0.011	0.55530	D	0.243	0.24193	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.961213	0.81001	P	.	.	.	.	.	.	0.0	0.07008	N	0.172	0.18376	-1.0056	0.28277	T	0.084	0.32900	T	6	0.0025280416	0.00038	T	.	.	.	0.047	0.12962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405995	0.02114	T	-0.339041	0.40452	T	0.00859621503851041	0.00105	T	0.247575	0.03662	T	.	.	.	.	.	.	.	.	-3.789	0.20640	T	.	.	0.073	0.04599	B	.	.	-0.350826	0.02404	0.268	0.94187066689665522	0.24411	0.05572	0.11472	N	AEFDGBI	0.025031	0.01647	N	-1.132785988659	0.06068	0.2783438	-1.18764225716248	0.06115	0.2933808	0.994168486267738	0.33516	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	-5.08	0.02708	-1.771000	0.01887	-0.905000	0.06976	-2.303000	0.00321	0.001000	0.13787	0.000000	0.08366	0.763000	0.36255	0.1735:0.394:0.4325:0.0	8.437	0.31954	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.9048	62824.01	90	chr9	131525948	.	C	T,A	62824.01	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-7.610e-01;DP=2393;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=60.00;MQRankSum=0.00;QD=26.87;ReadPosRankSum=0.558;SOR=0.662	GT:AD:DP:GQ:PL	1/1:0,118,0:118:99:3398,354,0,3398,354,3398	0	17	3	0
chr9	133071303	133071303	G	C	exonic	CEL	.	nonsynonymous SNV	CEL:NM_001807:exon11:c.G1801C:p.A601P,	Maturity-onset diabetes of the young, type VIII, Autosomal dominant	.	115	1368	29	5	5	44	0.0140541	.	.	1184208	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.993	D	0.796	P	.	.	1.000	N	1.895	L	-0.45	T	-0.739	T	0.328	T	0.283	2.865	15.54	-0.24	-0.016	-0.041	0.667	0.212	.	.	.	0.4112	0	0.2	0	.	0.3333	0	0.4727	0.0015006	232	154602	rs756704908	0.0080	0.0062	0.0070	0.0089	0.0279	0.0078	0.0077	0.0266	0.0261	0.0012	0.0046	0.0171	0.0008	0.0072	0.0214	0.0057	0.0072	0.0279	0.0027	0.0039	0.0026	0.0029	0.0139	0.0024	0.0023	0.0093	0.0078	0.0005	0.0034	0.0028	0.0101	0.0008	0.0019	0	0.0031	0.0032	0.0139	0.003	0.68238	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.45	0.69896	T	-0.46	0.14978	N	0.12	0.11054	-0.7390	0.58504	T	0.328	0.69631	T	9	0.002461046	0.00037	T	.	.	.	0.212	0.50341	.	.	.	.	0.07351690158995682	0.07288	1.00469648732	0.74536	0.776454806328	0.78393	T	0.019292	0.15396	T	-0.399635	0.02328	T	-0.319665	0.42611	T	0.0485864028472388	0.05248	T	0.948505	0.80194	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24599	B	.	.	2.200563	0.28064	17.67	0.9907478307719837	0.51810	0.03018	0.07894	N	AEFHCI	0.147376	0.27103	N	-0.586236619627421	0.19362	1.012727	-0.849127286812922	0.13309	0.6896853	0.117021367542883	0.16792	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.13	-0.24	0.12403	0.089000	0.14843	0.179000	0.15609	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2463:0.1872:0.3758:0.1907	0.667	0.00798	962	0.08456	Mucin-like domain	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.04762	625.11	30	chr9	133071303	.	G	C	625.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.212e+00;DP=570;ExcessHet=0.1072;FS=2.932;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.43;MQRankSum=0.213;QD=10.60;ReadPosRankSum=0.461;SOR=1.769	GT:AD:DP:GQ:PL	0/1:18,11:29:99:295,0,609	19	0	2	0
chr9	133208141	133208141	T	A	exonic	OBP2B	.	nonsynonymous SNV	OBP2B:NM_001288987:exon3:c.A269T:p.Y90F	.	.	654	836	30	2	0	34	0.0199297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.393	B	0.257	B	0.027	N	1.000	N	0.695	N	3.25	T	-0.959	T	0.012	T	0.248	-1.377	0.025	0.679	-0.219	-0.353	5.651	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	728.29	13	chr9	133208141	.	T	A	728.29	.	AC=4;AF=0.100;AN=40;BaseQRankSum=0.587;DP=409;ExcessHet=0.7148;FS=3.670;InbreedingCoeff=-0.0039;MLEAC=4;MLEAF=0.100;MQ=55.70;MQRankSum=-4.259e+00;QD=8.28;ReadPosRankSum=0.216;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,8:20:99:.:.:172,0,375	16	0	4	1
chr9	135823013	135823013	C	T	exonic	CAMSAP1	.	nonsynonymous SNV	CAMSAP1:NM_015447:exon11:c.G1648A:p.V550M,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.993	D	0.646	P	0.863	N	1.000	N	1.39	L	2.48	T	-0.906	T	0.078	T	0.06	1.499	10.96	5.2	2.437	2.561	18.736	0.137	0.011044141294	7.7e-05	.	3.295e-05	0	8.639e-05	0	0	0	0	0.0002	2.59e-05	4	154602	rs139777188	2.326e-05	2.326e-05	1.089e-05	3.576e-05	0.0002	1.674e-05	1.477e-05	0.0002	0.0001	0.0001	6.708e-05	0	0	0	0	5.396e-06	0	0.0002	3.943e-05	3.94e-05	2.569e-05	5.381e-05	9.654e-05	1.715e-05	1.129e-05	3.25e-05	1.915e-05	9.654e-05	0	6.542e-05	0	0	0	0	1.47e-05	0	0	0.106	0.33923	T	0.105	0.38016	T	0.993	0.65571	D	0.443	0.52296	B	0.863039	0.07128	N	1.076350	1	0.08975	N	1.78	0.46185	L	2.48	0.14783	T	-0.24	0.10833	N	0.051	0.04072	-0.9058	0.47355	T	0.078	0.31042	T	10	0.095588624	0.17083	T	0.011044	0.28250	T	0.137	0.36984	.	.	0.319322697148	0.31537	0.20406041429936847	0.20323	0.385980496119	0.39890	0.382867991924	0.22663	T	0.023534	0.17949	T	-0.529999	0.00384	T	-0.706934	0.05455	T	0.0995941981673241	0.12313	T	0.656534	0.26618	T	0.03147061	0.02992	0.04101476	0.04567	0.03147061	0.02992	0.04101476	0.04566	-5.16	0.38533	T	.	.	0.084	0.21277	B	.;.;.	.;.;.	1.243200	0.16394	12.51	0.99479359190694405	0.66795	0.51264	0.28855	D	AEFDGBI	0.176320	0.30352	N	-0.0277529644123273	0.40601	2.413975	-0.145447746636119	0.33583	1.922597	0.999999849139589	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	1.323000	0.33307	-0.664000	0.07966	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.0:1.0:0.0:0.0	18.736	0.91718	637	0.64373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2964.98	33	chr9	135823013	.	C	T	2964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.260e-01;DP=933;ExcessHet=0.0000;FS=4.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.460;SOR=0.990	GT:AD:DP:GQ:PL	0/1:114,113:227:99:2979,0,2956	20	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1289.72	63	chr9	138023729	.	A	G,*	1289.72	.	AC=2,13;AF=0.048,0.310;AN=42;BaseQRankSum=-4.590e-01;DP=1294;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=2,13;MLEAF=0.048,0.310;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.42;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:48,0,19:67:99:.:.:634,778,2732,0,1953,1896	7	0	2	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.034	B	0.012	B	0.000	D	1.000	D	0.69	N	1.42	T	-1.076	T	0.048	T	0.262	1.919	12.37	5.57	2.133	5.075	10.134	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	4683.86	92	chr10	825249	.	T	C	4683.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.067e+00;DP=2503;ExcessHet=20.9642;FS=199.373;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=2.13;SOR=13.018	GT:AD:DP:GQ:PL	0/1:90,40:130:99:271,0,1381	5	0	16	0
chr10	3781889	3781889	G	A	exonic	KLF6	.	nonsynonymous SNV	KLF6:NM_001160124:exon2:c.C428T:p.S143F	Gastric cancer, somatic;Prostate cancer, somatic	.	0	1517	5	0	0	5	0.00164528	.	.	138372	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.11	T	0.999	D	0.952	D	0.000	D	1.000	D	2.24	M	2.7	T	-0.515	T	0.297	T	0.711	2.340	13.78	4.99	2.309	9.719	10.844	0.213	0.0504868570063	.	0.000199681	0.0007	0.0002	0.0003	0	0	2.998e-05	0	0.0045	0.0005692	88	154602	rs200767950	0.0003	0.0003	0.0001	0.0004	0.0046	0.0003	0.0003	0.0043	0.0041	0	0	0	0	0	0.0009	1.799e-06	0.0001	0.0046	0.0001	0.0001	6.422e-05	0.0002	0.0043	9.139e-05	7.696e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0043	0.086	0.43708	T	0.222	0.37037	T	0.893	0.77913	P	0.51	0.69102	P	0.000008	0.62929	D	0.113755	0.999989	0.54805	D	2.56	0.74772	M	2.7	0.54149	T	-2.04	0.48020	N	0.712	0.71498	-0.5155	0.68084	T	0.297	0.66849	T	10	0.011963606	0.00259	T	0.050487	0.64262	D	0.213	0.50496	0.358	0.36060	0.701661913143	0.69907	0.5507589038069282	0.55001	2.02998117833	0.94073	0.638320088387	0.58325	T	0.596808	0.87019	D	-0.209945	0.19387	T	-0.0740817	0.65335	T	0.140373133063224	0.16307	T	0.959204	0.84742	D	0.13272555	0.30895	0.111242004	0.26832	0.11950104	0.28137	0.122643195	0.29581	-3.64	0.27881	T	.	.	0.262	0.49816	B	.;.;.	.;.;.	4.316808	0.66033	24.9	0.99643825202737879	0.76819	0.74581	0.36488	D	AEFDBHCI	0.920462	0.89248	D	0.596201280126872	0.72937	5.884995	0.55323879670133	0.71622	5.683083	0.999999999999841	0.74766	0.675202	0.55065	0	0.672317	0.65289	0	0.67197	0.60751	0	0.56214	0.19341	0	.	.	4.99	4.99	0.65942	9.852000	0.98385	11.777000	0.96009	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.127000	0.19450	0.0861:0.0:0.9139:0.0	10.844	0.45940	983	0.02875	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2740.98	34	chr10	3781889	.	G	A	2740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.960e-01;DP=864;ExcessHet=0.0000;FS=3.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.49;ReadPosRankSum=0.240;SOR=0.964	GT:AD:DP:GQ:PL	0/1:76,101:177:99:2755,0,1956	20	0	1	0
chr10	17987553	17987553	C	T	exonic	SLC39A12	.	nonsynonymous SNV	SLC39A12:NM_001282734:exon6:c.C769T:p.H257Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.93	P	0.528	P	0.046	N	0.565	D	0.69	N	0.9	T	-0.888	T	0.090	T	0.274	2.529	14.42	3.81	1.441	2.623	12.452	0.050	0.010170329409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.20835	T	0.61	0.07691	T	0.749	0.51791	P	0.461	0.48482	P	0.046369	0.23446	N	0.502768	0.564789	0.32243	D	0.55	0.14455	N	0.9	0.45248	T	-0.89	0.25118	N	0.456	0.51672	-0.8878	0.49122	T	0.090	0.34573	T	10	0.26225096	0.43692	T	0.01017	0.26390	T	0.050	0.13987	0.508	0.60386	0.12205267543	0.11705	0.2869701391367484	0.28610	0.145213614429	0.16413	0.387882649899	0.23371	T	0.002116	0.01518	T	-0.17612	0.24316	T	-0.490761	0.23311	T	0.870356142520905	0.52027	D	0.877812	0.66064	D	0.24824125	0.47809	0.25462446	0.51131	0.24824125	0.47809	0.25462446	0.51130	-8.907	0.67096	D	.	.	0.110	0.23148	B	.;.;.;.	.;.;.;.	3.683088	0.52433	23.2	0.99514285608639219	0.68799	0.86454	0.45737	D	AEFBI	0.332617	0.43197	N	0.201768554437613	0.51285	3.310955	0.27008806409916	0.53799	3.547315	0.660843247812059	0.22269	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.84	3.81	0.43020	2.686000	0.46634	3.541000	0.39004	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.890000	0.42831	0.5836:0.4164:0.0:0.0	12.452	0.55020	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3219.08	33	chr10	17987553	.	C	T	3219.08	.	AC=2;AF=0.048;AN=42;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.08;SOR=1.008	GT:AD:DP:GQ:PL	1/1:0,107:107:99:3247,321,0	20	1	0	0
chr10	20889923	20889923	C	G	exonic	NEBL	.	nonsynonymous SNV	NEBL:NM_006393:exon3:c.G180C:p.K60N,	.	.	439	1079	4	0	0	4	0.00185014	.	.	54652	NEBL-related_disorder|not_provided|not_specified|Primary_dilated_cardiomyopathy|Cardiovascular_phenotype	.|MedGen:C3661900|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	1.000	D	2.295	M	0.25	T	-0.595	T	0.259	T	0.289	2.907	15.69	1.9	0.087	0.052	8.740	0.323	0.0429752649612	0.0052	0.00139776	0.0039	0.0008	0.0015	0	0.0006	0.0064	0.0022	0.0008	0.0043208	668	154602	rs41277374	0.0057	0.0058	0.0057	0.0056	0.0067	0.0056	0.0055	0.0066	0.0065	0.0006	0.0020	0.0088	0	0.0009	0.0010	0.0067	0.0048	0.0015	0.0038	0.0038	0.0041	0.0035	0.0065	0.0035	0.0034	0.0060	0.0058	0.0010	0.0011	0.0023	0.0101	0	0.0004	0	0.0065	0.0028	0.0023	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000005	0.62929	D	0.103713	0.997262	0.81001	D	3.005	0.85968	M	0.25	0.59449	T	-3.89	0.78807	D	0.867	0.86404	-0.5946	0.65036	T	0.259	0.62966	T	10	0.008779794	0.00199	T	0.042975	0.60744	D	0.323	0.64522	0.501	0.59304	0.717819449637	0.71533	0.4051002485864515	0.40426	0.115224054123	0.12999	0.578130125999	0.49823	T	0.074521	0.34958	T	-0.402079	0.02244	T	-0.342374	0.40076	T	0.0444831642729476	0.04508	T	0.842116	0.64041	T	0.67088205	0.76480	0.5945006	0.76462	0.67088205	0.76481	0.5945006	0.76462	-8.693	0.65700	D	.	.	0.234	0.46768	B	.;.	.;.	2.788526	0.36647	20.3	0.99734096526239135	0.82975	0.79226	0.39218	D	AEFGBI	0.407691	0.47967	N	0.156769774313982	0.49132	3.117146	0.0650596252988378	0.42807	2.595654	0.958819659289646	0.28386	0.516011	0.20929	0	0.59043	0.45803	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.93	1.9	0.24770	0.102000	0.15108	0.135000	0.15097	-0.182000	0.10109	0.992000	0.37556	0.936000	0.28664	0.876000	0.41813	0.0:0.4559:0.0:0.5441	8.740	0.33710	894	0.26265	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1111.98	33	chr10	20889923	.	C	G	1111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.880e+00;DP=788;ExcessHet=0.0000;FS=0.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=2.22;SOR=0.576	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1126,0,1377	20	0	1	0
chr10	26567075	26567075	G	T	exonic	APBB1IP	.	nonsynonymous SNV	APBB1IP:NM_019043:exon15:c.G1588T:p.G530C,	.	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.001	B	0.753	N	1.000	N	1.52	L	1.49	T	-1.006	T	0.033	T	0.151	1.604	11.32	-9.89	-1.746	-3.489	3.704	0.042	.	0.0042	0.00199681	0.0072	0.0021	0.0022	0	0.0084	0.0108	0.0053	0.0053	0.002652	410	154602	rs200232575	0.0064	0.0061	0.0064	0.0064	0.0073	0.0063	0.0063	0.0072	0.0071	0.0010	0.0017	0.0011	0	0.0041	0.0010	0.0073	0.0054	0.0033	0.0047	0.0047	0.0050	0.0045	0.0082	0.0044	0.0043	0.0076	0.0074	0.0018	0	0.0022	0.0009	0.0002	0.0024	0	0.0082	0.0034	0.0030	0.241	0.17643	T	0.079	0.42086	T	0.0	0.02946	B	0.001	0.04355	B	0.752692	0.06494	N	1.130080	1	0.08975	N	1.04	0.26193	L	1.49	0.31470	T	-1.18	0.30140	N	0.059	0.03069	-1.0063	0.28065	T	0.033	0.14073	T	10	0.0038218796	0.00072	T	.	.	.	0.042	0.11227	.	.	0.262679179196	0.25893	0.2550504373776943	0.25419	0.529237098308	0.50493	0.506000995636	0.39664	T	0.011365	0.10151	T	-0.633828	0.00091	T	-0.675407	0.07267	T	0.012738279738062	0.00215	T	0.591241	0.21771	T	0.05675784	0.11210	0.03394631	0.02375	0.05675784	0.11210	0.03394631	0.02374	-5.455	0.41445	T	.	.	0.082	0.08705	B	.	.	-0.898387	0.00929	0.035	0.79129449897363546	0.12603	0.03345	0.08429	N	AEFDGBCI	0.161385	0.28744	N	-1.82315007741465	0.00491	0.02112745	-1.96386363715688	0.00364	0.01609082	0.999999990196672	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.94	-9.89	0.00384	-3.997000	0.00358	-1.906000	0.04518	-2.219000	0.00349	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4263:0.0731:0.3854:0.1151	3.704	0.07924	638	0.64280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	319.98	37	chr10	26567075	.	G	T	319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.270e-01;DP=658;ExcessHet=0.0000;FS=1.205;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.27;ReadPosRankSum=-9.280e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/1:27,17:44:99:334,0,616	20	0	1	0
chr10	28058525	28058525	G	C	exonic	MPP7	.	nonsynonymous SNV	MPP7:NM_001318170:exon15:c.C1377G:p.N459K	.	.	.	.	.	.	.	.	.	.	.	3356066	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.484	P	0.381	B	0.000	D	1.000	D	1.53	L	2.22	T	-1.119	T	0.048	T	0.395	2.088	12.94	4.16	0.880	2.012	8.911	0.137	0.00986801543881	7.7e-05	0.000199681	0.0002	0.0002	8.637e-05	0	0	0.0001	0	0.0007	0.0001617	25	154602	rs199919302	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0005	0.0005	3.031e-05	0.0002	0	0	0	0.0005	0.0001	0.0001	0.0007	0.0003	0.0003	0.0002	0.0004	0.0018	0.0002	0.0002	0.0012	0.0011	7.222e-05	0	0.0018	0	0	0	0	0.0002	0	0.0008	0.09	0.37966	T	0.035	0.52389	D	0.484	0.36838	P	0.381	0.43873	B	0.000000	0.84330	D	0.080681	0.999999	0.58761	D	1.325	0.33218	L	2.22	0.18248	T	-2.41	0.55501	N	0.403	0.44379	-1.1194	0.02369	T	0.048	0.20632	T	10	0.048288137	0.04259	T	0.009868	0.25720	T	0.137	0.36984	0.786	0.90919	0.396044805602	0.39223	0.552267919992383	0.55152	0.218260725419	0.24360	0.825687408447	0.85901	D	0.215904	0.57792	T	-0.399314	0.02339	T	-0.440278	0.28777	T	0.0635186786697871	0.07711	T	0.949805	0.80758	D	0.2602434	0.49079	0.24190176	0.49599	0.2602434	0.49079	0.24190176	0.49598	-10.609	0.77471	D	.	.	0.246	0.50287	B	.;.;.;.	.;.;.;.	3.241433	0.44252	21.9	0.98411264902325113	0.41180	0.93756	0.59101	D	AEFBI	0.534041	0.55324	D	0.131090173651991	0.47916	3.010848	0.210452523675437	0.50426	3.234818	0.00290192340425812	0.09788	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	6.01	4.16	0.48138	2.187000	0.42234	6.658000	0.56238	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2775:0.0:0.7225:0.0	8.911	0.34711	715	0.56137	Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1495.98	37	chr10	28058525	.	G	C	1495.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.034e+00;DP=804;ExcessHet=0.0000;FS=2.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-3.170e-01;SOR=0.606	GT:AD:DP:GQ:PL	0/1:55,64:119:99:1510,0,1342	20	0	1	0
chr10	28677898	28677898	A	G	exonic	BAMBI	.	startloss	BAMBI:NM_012342:exon1:c.A1G:p.M1?,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.924	P	0.878	P	0.000	D	1.000	D	.	.	.	.	-0.181	T	0.388	T	0.986	5.088	31	4.25	1.698	7.722	13.300	0.528	0.926852115674	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1032489173	3.968e-05	3.967e-05	3.628e-05	4.317e-05	0.0001	3.108e-05	2.785e-05	3.947e-05	2.693e-05	3.507e-05	0.0001	0	3.025e-05	0	0	4.023e-05	5.286e-05	2.612e-05	4.607e-05	4.598e-05	3.859e-05	5.391e-05	8.833e-05	2.112e-05	1.529e-05	3.766e-05	2.578e-05	2.415e-05	0	0	0	0	0	0	8.833e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.713	0.42139	P	0.761	0.56482	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-0.74	0.20791	N	0.868	0.86511	-0.1815	0.78143	T	0.388	0.74268	T	8	0.9573037	0.95103	D	0.926852	0.99466	D	0.528	0.80067	0.741	0.87317	0.619340834653	0.61626	0.7921430216673732	0.79166	.	.	.	.	.	0.421309	0.77274	T	0.267078	0.80177	D	0.394172	0.91921	D	0.973463892936707	0.70107	D	0.9	0.65058	D	0.8897706	0.90488	0.9362552	0.97519	0.8897706	0.90489	0.9362552	0.97520	-10.076	0.74366	D	.	.	.	.	.	.	.	4.260551	0.64748	24.7	0.99470496887582738	0.66312	0.95317	0.64251	D	AEFDBCI	0.227216	0.35106	N	0.501787938484905	0.67196	5.049457	0.49628457763124	0.67743	5.125093	0.999999999617634	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.52208	0.10781	0	0.665054	0.64577	0	.	.	4.25	4.25	0.49658	3.913000	0.56106	10.650000	0.83525	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.300	0.59752	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	331.98	30	chr10	28677898	.	A	G	331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=575;ExcessHet=0.0000;FS=1.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=1.45;SOR=0.412	GT:AD:DP:GQ:PL	0/1:11,13:24:99:346,0,229	20	0	1	0
chr10	35608472	35608472	A	G	exonic	GJD4	.	nonsynonymous SNV	GJD4:NM_153368:exon2:c.A959G:p.Q320R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.007	B	0.002	B	0.000	N	1.000	N	0.205	N	-4.45	D	0.029	D	0.651	D	0.111	-0.681	1.033	-9.7	-3.384	-0.850	1.951	0.183	0.153649542927	.	.	0.0009	0	0.0088	0	0	0	0.0069	0.0013	9.7e-05	15	154602	rs374623236	6.872e-05	6.84e-05	2.967e-05	0.0001	0.0010	5.75e-05	5.344e-05	0.0009	0.0008	9.498e-05	0	0	0	0	0.0002	2.78e-06	0.0001	0.0010	3.996e-05	3.957e-05	2.603e-05	5.456e-05	0.0011	1.735e-05	1.142e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	0.0011	0.684	0.04379	T	0.628	0.07244	T	0.007	0.14184	B	0.002	0.06944	B	0.000437	0.00601	N	3.771580	1	0.08975	N	1.445	0.36358	L	-4.45	0.97538	D	-0.84	0.22944	N	0.098	0.07949	0.029	0.82827	D	0.651	0.87831	D	10	0.005494565	0.00121	T	0.15365	0.83488	D	0.183	0.45592	0.18	0.08751	0.32053947749	0.31673	0.06238369500706082	0.06178	0.309982219948	0.33310	0.402765870094	0.25454	T	0.11123	0.42656	T	-0.354817	0.04431	T	-0.327998	0.41691	T	0.0254077674725834	0.01326	T	0.279972	0.04873	T	0.03254321	0.03299	0.02794241	0.00986	0.03254321	0.03299	0.02794241	0.00986	-2.544	0.06089	T	.	.	0.056	0.00496	B	.	.	-0.518657	0.01808	0.141	0.21415872050088219	0.00815	0.00594	0.02659	N	AEFDBI	0.052924	0.09490	N	-1.79139353703725	0.00566	0.02440011	-1.89811862096921	0.00494	0.02188067	0.999999999995211	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.554799	0.18163	0	.	.	4.85	-9.7	0.00436	-2.240000	0.01280	-0.304000	0.10092	-0.072000	0.16302	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.1182:0.3301:0.2049:0.3468	1.951	0.03162	733	0.53988	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	445.98	33	chr10	35608472	.	A	G	445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.985e+00;DP=712;ExcessHet=0.0000;FS=5.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-1.249e+00;SOR=0.193	GT:AD:DP:GQ:PL	0/1:15,18:33:99:460,0,448	20	0	1	0
chr10	35640315	35640315	-	CGCCCGGGCCGCCCG	exonic	FZD8	.	nonframeshift insertion	FZD8:NM_031866:exon1:c.1114_1115insCGGGCGGCCCGGGCG:p.G371_G372insAGGPG,	.	.	450	1061	9	2	0	13	0.00608899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.064e-05	5.884e-05	3.025e-05	3.106e-05	0.0002	2.185e-05	1.922e-05	5.917e-05	3.803e-05	0	0	6.434e-05	0	0	0	2.883e-05	2.384e-05	0.0002	0	6.598e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	47.94	37	chr10	35640315	.	C	CCGCCCGGGCCGCCCG	47.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.480;DP=788;ExcessHet=0.0000;FS=2.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.40;ReadPosRankSum=-2.840e-01;SOR=0.148	GT:AD:DP:GQ:PL	0/1:16,4:20:62:62,0,633	20	0	1	0
chr10	48232232	48232232	C	T	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon8:c.G979A:p.G327R	.	.	434	1075	13	0	0	13	0.00601017	.	.	2813135	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.993	D	.	.	1.000	D	2.865	M	-1.27	T	0.273	D	0.561	D	0.795	3.403	17.49	4.53	1.299	5.121	12.122	0.653	.	0.0043	0.00219649	0.0056	0.0012	0.0030	0.0001	0.0224	0.0068	0.0022	0.0021	0.0054139	837	154602	rs116143480	0.0054	0.0055	0.0054	0.0055	0.0055	0.0053	0.0053	0.0054	0.0054	0.0007	0.0037	0.0005	0.0001	0.0207	0.0023	0.0055	0.0049	0.0023	0.0055	0.0055	0.0053	0.0057	0.0071	0.0052	0.0050	0.0066	0.0064	0.0012	0	0.0042	0.0003	0.0002	0.0206	0	0.0071	0.0038	0.0021	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.99992	0.51308	D	3.175	0.88760	M	-1.27	0.79277	T	-6.75	0.92692	D	0.701	0.73105	0.273	0.87114	D	0.561	0.84045	D	9	0.012791216	0.00274	T	.	.	.	0.653	0.86936	0.704	0.84054	0.806080698872	0.80427	0.4573109912437428	0.45649	0.248615505204	0.27425	0.521223545074	0.41798	T	0.312983	0.90840	T	-0.104157	0.35736	T	0.0879978	0.76111	D	0.0714953666646391	0.08859	T	0.886711	0.63001	D	0.4570301	0.64486	0.42942518	0.66625	0.4570301	0.64486	0.42942518	0.66625	-9.197	0.72620	D	.	.	0.435	0.61475	A	.;.;.	.;.;.	3.202208	0.43554	21.8	0.99922589045449228	0.98852	0.94814	0.62421	D	AEFDBI	0.626908	0.60956	D	0.491545953725207	0.66594	4.970481	0.343712138144711	0.58131	3.981804	0.999999998794507	0.74766	0.553676	0.25195	0	0.624146	0.53433	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.44	4.53	0.55009	5.406000	0.66100	2.831000	0.35021	0.599000	0.40250	0.994000	0.38300	0.983000	0.30585	0.044000	0.14658	0.0:0.9161:0.0:0.0839	12.122	0.53196	976	0.04745	FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;.	.	.	.	.	rs116143480	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2614.11	34	chr10	48232232	.	C	T	2614.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.12;DP=972;ExcessHet=0.1072;FS=9.341;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.92;ReadPosRankSum=1.78;SOR=1.097	GT:AD:DP:GQ:PL	0/1:92,48:140:99:1226,0,2306	19	0	2	0
chr10	59245065	59245065	A	G	exonic	PHYHIPL	.	nonsynonymous SNV	PHYHIPL:NM_001143774:exon5:c.A527G:p.H176R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.078	B	0.055	B	0.000	D	1.000	D	0.695	N	2.01	T	-1.090	T	0.058	T	0.461	0.272	5.473	5.83	2.225	3.843	16.197	0.061	0.00525626882393	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411557143	4.123e-06	4.104e-06	2.734e-06	5.527e-06	7.063e-05	1.48e-06	9.7e-07	3.033e-05	2.063e-05	0	0	0	0	0	0	0	0	7.063e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.10412	T	0.348	0.17585	T	0.078	0.24389	B	0.035	0.25995	B	0.000020	0.62929	D	0.071300	0.997047	0.43591	D	0.895	0.22405	L	2.01	0.28836	T	-0.38	0.13418	N	0.3	0.33904	-1.0901	0.05515	T	0.058	0.24279	T	10	0.12450966	0.23649	T	0.005256	0.13402	T	0.061	0.17616	0.396	0.42262	0.273938319068	0.27005	0.3816867220209004	0.38083	0.663980762925	0.59045	0.615902483463	0.55148	T	0.025931	0.19295	T	-0.244959	0.14722	T	-0.406252	0.32657	T	0.106550157332041	0.13063	T	0.644935	0.25655	T	0.16839577	0.37294	0.15781565	0.36883	0.16839577	0.37294	0.15781565	0.36882	-3.42	0.15327	T	.	.	0.075	0.06479	B	.;.	.;.	2.634580	0.34271	19.58	0.89811925284541361	0.19122	0.93428	0.58191	D	AEFDBCIJ	0.768471	0.70402	D	-0.0859235919595041	0.38009	2.219733	0.130386794906933	0.46109	2.862491	0.998174489917076	0.36530	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.83	5.83	0.93059	6.262000	0.72476	9.395000	0.80605	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	1.0:0.0:0.0:0.0	16.197	0.81853	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1091.98	33	chr10	59245065	.	A	G	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.209;DP=836;ExcessHet=0.0000;FS=0.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.43;ReadPosRankSum=-7.250e-01;SOR=0.608	GT:AD:DP:GQ:PL	0/1:95,52:147:99:1106,0,2393	20	0	1	0
chr10	69097216	69097216	G	A	exonic	SRGN	.	nonsynonymous SNV	SRGN:NM_002727:exon2:c.G212A:p.R71K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.057	B	0.053	B	0.125	N	1.000	N	1.995	M	0.89	T	-1.024	T	0.081	T	0.215	0.454	6.467	2.0	0.630	-0.125	4.010	0.080	0.00592329439927	.	0.000199681	4.123e-05	0	0	0	0	0	0	0.0003	3.88e-05	6	154602	rs562386042	3.151e-05	3.215e-05	1.499e-05	4.819e-05	0.0005	2.415e-05	2.16e-05	0.0004	0.0003	0	0	0	0	0	0	0	3.316e-05	0.0005	2.628e-05	2.625e-05	1.286e-05	4.032e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.527	0.07093	T	0.201	0.27503	T	0.057	0.22878	B	0.053	0.25678	B	0.124973	0.18860	N	0.470905	1	0.08975	N	1.15	0.29295	L	0.89	0.45636	T	-0.78	0.21644	N	0.057	0.02861	-1.0238	0.22476	T	0.081	0.32060	T	10	0.03214428	0.01360	T	0.005923	0.15430	T	0.080	0.23350	0.54	0.65161	0.499985177359	0.49634	0.25320902973339854	0.25234	0.289159646238	0.31319	0.285022079945	0.08202	T	0.131098	0.46039	T	-0.481563	0.00724	T	-0.599507	0.12854	T	0.012946896963143	0.00223	T	0.285971	0.05105	T	0.049839277	0.08912	0.034432285	0.02508	0.049839277	0.08912	0.034432285	0.02508	-3.428	0.15436	T	.	.	0.101	0.17573	B	.	.	0.508427	0.08773	5.550	0.91346835036983776	0.20610	0.07267	0.13291	N	AEFBCI	0.459721	0.51021	N	-0.617464615848329	0.18420	0.9561486	-0.588053665771199	0.19804	1.064193	0.999994748847196	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.16	2.0	0.25495	-0.119000	0.10649	.	.	-0.110000	0.15115	0.001000	0.13787	0.001000	0.17328	0.192000	0.21661	0.0936:0.1528:0.5855:0.1681	4.010	0.09108	756	0.51065	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1175.98	42	chr10	69097216	.	G	A	1175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=1.03;QD=12.64;ReadPosRankSum=0.396;SOR=0.641	GT:AD:DP:GQ:PL	0/1:46,47:93:99:1190,0,1087	20	0	1	0
chr10	70772558	70772558	G	A	exonic	TBATA	.	nonsynonymous SNV	TBATA:NM_001318241:exon10:c.C929T:p.P310L	.	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.002	B	0.493	N	1.000	N	0.69	N	1.07	T	-1.058	T	0.029	T	0.101	-1.000	0.260	-8.6	-3.341	-2.255	7.515	0.002	.	0.0025	0.00738818	0.0050	0.0057	0.0338	0.0002	0	0.0015	0.0066	0.0024	0.0049094	759	154602	rs12415264	0.0021	0.0021	0.0023	0.0020	0.0343	0.0021	0.0020	0.0329	0.0323	0.0061	0.0343	0.0225	0.0005	0	0.0017	0.0003	0.0031	0.0029	0.0054	0.0054	0.0055	0.0053	0.0304	0.0051	0.0050	0.0281	0.0272	0.0056	0	0.0304	0.0216	0.0002	0	0	0.0003	0.0052	0.0025	0.898	0.02436	T	0.749	0.04825	T	0.0	0.02946	B	0.002	0.06944	B	0.493337	0.05048	N	1.371960	1	0.08975	N	.	.	.	1.07	0.39586	T	-0.6	0.17834	N	0.048	0.01999	-1.0575	0.12388	T	0.029	0.12322	T	10	0.002465248	0.00037	T	.	.	.	0.002	0.00045	.	.	0.0138822411134	0.00435	0.07844006018162397	0.07780	0.0919349002003	0.10376	0.252596437931	0.04046	T	0.113615	0.43078	T	-0.686563	0.00044	T	-0.733214	0.04183	T	0.000120833818337297	0.00001	T	0.510449	0.16283	T	0.016641092	0.00212	0.021764956	0.00217	0.01711251	0.00246	0.021764956	0.00217	-4.071	0.24861	T	0.09028357265959742	0.05607	0.062	0.01668	B	.;.	.;.	-1.431304	0.00339	0.006	0.43419445943242924	0.03268	0.00559	0.02549	N	AEFDBI	0.043855	0.06984	N	-1.89816676560435	0.00346	0.01487338	-2.02701894771246	0.00268	0.01183917	0.99999958689132	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.3	-8.6	0.00773	-2.598000	0.00968	-3.241000	0.02942	-2.756000	0.00196	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5812:0.0:0.1775:0.2413	7.515	0.26762	440	0.80101	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	841.98	33	chr10	70772558	.	G	A	841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.615;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=1.60;SOR=0.611	GT:AD:DP:GQ:PL	0/1:41,35:76:99:856,0,979	20	0	1	0
chr10	73240981	73240981	G	0	exonic	FAM149B1	.	.	.	.	.	431	911	149	5	26	185	0.0802625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11177.05	95	chr10	73240981	.	G	A,*	11177.05	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=1.81;DP=1346;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.347;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,80,0:80:99:.:.:2502,240,0,2502,240,2502	11	2	6	0
chr10	73323084	73323084	G	A	exonic	CFAP70	.	nonsynonymous SNV	CFAP70:NM_001350934:exon8:c.C425T:p.A142V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.056	B	0.024	B	0.657	N	0.850	N	0.14	N	1.96	T	-1.011	T	0.034	T	0.109	0.707	7.767	-3.5	-0.658	-0.546	6.164	0.009	0.0044162599698	.	.	8.293e-06	0	0	0	0	0	0	6.269e-05	6.5e-06	1	154602	rs777869852	6.851e-07	6.84e-07	0	1.377e-06	1.166e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.13654	T	0.306	0.19972	T	0.001	0.07471	B	0.001	0.04355	B	0.656899	0.05957	N	1.143820	1	0.28506	N	.	.	.	1.96	0.22270	T	-0.92	0.24676	N	0.101	0.08366	-1.0110	0.26604	T	0.034	0.14726	T	10	0.01594308	0.00335	T	0.004416	0.10781	T	0.009	0.00846	0.237	0.16760	0.0297737177859	0.01360	0.24483438169005461	0.24397	0.297358880734	0.32117	0.301736861467	0.10659	T	0.009737	0.08845	T	-0.398881	0.02355	T	-0.710111	0.05289	T	0.0288257626478234	0.01811	T	0.305069	0.05837	T	0.03883387	0.05250	0.053231195	0.08925	0.03883387	0.05250	0.053231195	0.08925	-5.26	0.39546	T	.	.	0.074	0.05103	B	.	.	0.920976	0.12960	9.466	0.65428300388729943	0.07770	0.05042	0.10828	N	AEFDBHCI	0.042217	0.06523	N	-1.28706635486717	0.03830	0.1718098	-1.24021041461966	0.05278	0.2510757	0.0128041042920385	0.12377	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.81	-3.5	0.04411	-0.459000	0.06805	-0.692000	0.07835	-0.801000	0.03157	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.0:0.3278:0.3296:0.3426	6.164	0.19598	881	0.29269	.	.	.	.	.	.	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	0.05556	112.34	48	chr10	73323084	.	G	A	112.34	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.819e+00;DP=1153;ExcessHet=0.1072;FS=137.955;InbreedingCoeff=-0.0924;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.56;ReadPosRankSum=-9.130e-01;SOR=8.015	GT:AD:DP:GQ:PL	0/1:79,24:103:25:25,0,1450	16	0	2	3
chr10	93408801	93408801	G	A	exonic	MYOF	.	nonsynonymous SNV	MYOF:NM_013451:exon7:c.C715T:p.P239S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.44	M	-3.83	D	1.077	D	0.948	D	0.978	5.181	32	5.62	2.933	9.595	19.880	0.952	0.574174226941	.	.	6.627e-05	0	8.639e-05	0	0	1.499e-05	0	0.0004	5.82e-05	9	154602	rs201956372	2.189e-05	2.189e-05	1.225e-05	3.163e-05	0.0003	1.584e-05	1.356e-05	0.0002	0.0002	0	0	0	0	0	0	1.799e-06	3.311e-05	0.0003	1.97e-05	1.969e-05	3.856e-05	0	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.27	0.90083	M	-3.83	0.95794	D	-6.95	0.95765	D	0.93	0.93487	1.077	0.98782	D	0.948	0.98318	D	10	0.98156637	0.98189	D	0.574174	0.96160	D	0.952	0.99124	0.878	0.96734	0.943438388223	0.94285	0.8182579569794536	0.81782	0.656793466026	0.58660	0.728578925133	0.71299	T	0.765584	0.93684	D	0.340705	0.85885	D	0.556171	0.95784	D	0.864844365145461	0.51499	D	0.971503	0.89686	D	0.85636944	0.87810	0.78491455	0.87330	0.85636944	0.87812	0.78491455	0.87331	-9.873	0.73148	D	.	.	0.965	0.90737	P	.;.;.	.;.;.	4.460877	0.69433	25.4	0.99919404540069234	0.98654	0.97281	0.73769	D	AEFDBCI	0.928221	0.91212	D	1.07147621189568	0.97570	16.35741	1.01037684574946	0.98818	19.48955	1.0	0.98316	0.631515	0.41029	0	0.573888	0.26702	0	0.602189	0.34648	0	0.741806	0.99463	0	.	.	5.62	5.62	0.85714	9.999000	0.99362	11.844000	0.97886	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.825000	0.38878	0.0:0.0:1.0:0.0	19.880	0.96889	477	0.77662	.;C2 domain|C2 domain|C2 domain|Ferlin, second C2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1488.98	36	chr10	93408801	.	G	A	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.331;DP=799;ExcessHet=0.0000;FS=1.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=-1.538e+00;SOR=0.517	GT:AD:DP:GQ:PL	0/1:46,58:104:99:1503,0,1153	20	0	1	0
chr10	93692719	93692719	T	C	exonic	FRA10AC1	.	nonsynonymous SNV	FRA10AC1:NM_001347712:exon6:c.A307G:p.K103E	.	.	.	.	.	.	.	.	.	.	.	3250818	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.978	D	0.000	D	1.000	D	2.51	M	1.69	T	-0.648	T	0.208	T	0.815	4.582	24.9	5.26	1.991	7.540	15.182	0.481	0.0278162905695	0.0002	.	0.0002	0	8.688e-05	0	0	6.007e-05	0	0.0012	0.0001682	26	154602	rs374011831	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0008	0.0007	0	2.702e-05	0	0	0	0	0.0002	6.768e-05	0.0010	7.222e-05	7.218e-05	6.424e-05	8.056e-05	0.0006	3.968e-05	3.125e-05	0.0002	8.992e-05	9.621e-05	0	0	0	0	0	0	5.881e-05	0	0.0006	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.978	0.74104	D	0.000000	0.84330	D	0.044611	0.99998	0.54805	D	3.135	0.88152	M	1.61	0.28391	T	-3.68	0.70314	D	0.806	0.80180	-0.6477	0.62814	T	0.208	0.56690	T	10	0.550218	0.64213	D	0.027816	0.50582	D	0.481	0.77142	.	.	0.473458370588	0.46973	0.7497962093464947	0.74926	0.435720000412	0.43672	0.620463371277	0.55795	T	0.112762	0.42928	T	-0.150439	0.28241	T	-0.0452196	0.67349	D	0.446792654183956	0.30679	T	0.89601	0.63722	D	0.68662673	0.77327	0.6703496	0.80658	0.68662673	0.77329	0.6703496	0.80659	-11.579	0.82740	D	.	.	0.525	0.65701	A	.	.	4.706226	0.75561	26.4	0.99900897284293799	0.97275	0.98334	0.81734	D	AEFBI	0.895483	0.83555	D	0.767542380436979	0.84040	8.178494	0.729028935208232	0.84581	8.332532	0.999787337853467	0.43007	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	7.564000	0.81307	7.897000	0.73349	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.182	0.72649	191	0.92559	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1099.98	33	chr10	93692719	.	T	C	1099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.343e+00;DP=791;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=0.00;SOR=0.540	GT:AD:DP:GQ:PL	0/1:40,51:91:99:1114,0,1007	20	0	1	0
chr10	95711957	95711957	A	G	exonic	ENTPD1	.	startloss	ENTPD1:NM_001098175:exon1:c.A1G:p.M1?,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.011	B	0.043	B	.	.	1.000	N	.	.	2.99	T	-0.984	T	0.022	T	0.239	0.003	4.029	0.458	0.454	0.268	.	0.050	0.0258532624206	.	.	.	.	.	.	.	.	.	.	.	.	.	rs919503156	1.027e-05	1.026e-05	1.09e-05	9.633e-06	2.99e-05	6.17e-06	4.89e-06	5.75e-06	4.55e-06	2.99e-05	0	0	2.519e-05	0	0	1.079e-05	1.658e-05	0	3.349e-05	0.0008	5.229e-05	1.374e-05	7.396e-05	1.279e-05	8.11e-06	1.961e-05	1.043e-05	7.396e-05	0	0	0	0	0	0	2.982e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.011	0.15914	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	2.99	0.09262	T	-0.01	0.07155	N	0.636	0.64903	-0.9843	0.33998	T	0.022	0.09147	T	7	0.9436738	0.93692	D	0.025853	0.48797	D	0.050	0.13987	0.995	0.99946	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.356997	0.04303	T	-0.581449	0.14417	T	0.0875836804388688	0.10928	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-5.549	0.42324	T	.	.	.	.	.	.	.	1.019411	0.13987	10.55	0.53643955591518877	0.04980	0.00569	0.02581	N	AEFGBI	0.012711	0.00146	N	-0.881114104686083	0.11293	0.5441785	-1.01454963048692	0.09465	0.471041	0.00272844770582347	0.09662	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	0.458	0.15882	0.267000	0.18318	.	.	0.300000	0.18932	0.266000	0.25007	0.945000	0.28875	0.278000	0.23967	.	.	.	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.1389	323.39	32	chr10	95711957	.	A	G	323.39	.	AC=5;AF=0.139;AN=36;BaseQRankSum=1.70;DP=633;ExcessHet=1.1607;FS=22.468;InbreedingCoeff=-0.1784;MLEAC=5;MLEAF=0.139;MQ=57.80;MQRankSum=-5.093e+00;QD=2.34;ReadPosRankSum=0.645;SOR=3.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,4:33:81:0|1:95711925_A_T:81,0,1206:95711925	13	0	5	3
chr10	95711959	95711959	G	C	exonic	ENTPD1	.	startloss	ENTPD1:NM_001098175:exon1:c.G3C:p.M1?,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.011	B	0.043	B	.	.	1.000	N	.	.	2.97	T	-0.985	T	0.022	T	0.301	0.321	5.743	0.458	0.538	0.278	.	0.055	0.0243099664364	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433519358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0008	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.011	0.15914	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	2.97	0.09450	T	0.0	0.07008	N	0.693	0.69825	-0.9851	0.33808	T	0.022	0.09193	T	7	0.94950134	0.94283	D	0.02431	0.47297	T	0.055	0.15663	0.993	0.99924	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.217906	0.18280	T	-0.550783	0.17250	T	0.141772925853729	0.16427	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-5.73	0.43959	T	.	.	.	.	.	.	.	0.932069	0.13072	9.577	0.96361290402127009	0.29550	0.00779	0.03201	N	AEFGBI	0.011946	0.00117	N	-0.858725517021361	0.11836	0.5734107	-0.993793893458475	0.09924	0.4966357	0.00285753038931223	0.09753	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	0.458	0.15882	0.280000	0.18550	.	.	0.272000	0.18543	0.255000	0.24900	0.876000	0.27648	0.265000	0.23644	.	.	.	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.1389	404.05	34	chr10	95711959	.	G	C	404.05	.	AC=5;AF=0.139;AN=36;BaseQRankSum=0.673;DP=644;ExcessHet=1.1607;FS=19.869;InbreedingCoeff=-0.1851;MLEAC=6;MLEAF=0.167;MQ=57.78;MQRankSum=-5.316e+00;QD=2.87;ReadPosRankSum=0.611;SOR=2.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,4:34:78:0|1:95711925_A_T:78,0,1248:95711925	13	0	5	3
chr10	95711966	95711966	-	C	exonic	ENTPD1	.	frameshift insertion	ENTPD1:NM_001098175:exon1:c.11dupC:p.K5Qfs*11,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353731498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.585e-06	0.0008	0	1.349e-05	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	370.88	34	chr10	95711966	.	A	AC	370.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.21;DP=666;ExcessHet=0.6776;FS=17.575;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.06;MQRankSum=-5.316e+00;QD=3.07;ReadPosRankSum=0.238;SOR=2.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,4:35:75:0|1:95711925_A_T:75,0,1290:95711925	17	0	4	0
chr10	95711973	95711973	A	-	exonic	ENTPD1	.	frameshift deletion	ENTPD1:NM_001098175:exon1:c.17delA:p.D6Afs*2,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs146056164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.601e-06	0.0018	0	1.351e-05	2.42e-05	0	0	.	.	2.42e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	686.4	34	chr10	95711972	.	GA	G	686.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.485;DP=713;ExcessHet=1.1607;FS=0.739;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=57.11;MQRankSum=-5.587e+00;QD=4.09;ReadPosRankSum=0.00;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,6:38:99:0|1:95711925_A_T:133,0,1326:95711925	16	0	5	0
chr10	95711979	95711979	C	G	exonic	ENTPD1	.	nonsynonymous SNV	ENTPD1:NM_001098175:exon1:c.C23G:p.T8R,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.087	B	0.018	B	.	.	1.000	N	.	.	2.85	T	-0.985	T	0.019	T	0.082	-0.732	0.871	-0.916	-0.340	0.235	.	0.018	0.00180847012655	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776554101	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0025	0.0001	0.0001	0.0001	6.73e-05	5.499e-05	6.466e-05	4.42e-05	0.0001	0	0	0	0	0.0002	0	0.0001	0.0005	0	0.116	0.28395	T	0.189	0.28575	T	0.087	0.24971	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	.	.	.	2.85	0.10578	T	-0.03	0.07444	N	0.159	0.16586	-0.9848	0.33879	T	0.019	0.07800	T	7	0.056895226	0.06450	T	0.001808	0.03115	T	0.018	0.03083	0.201	0.11522	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.364491	0.03883	T	-0.761343	0.03064	T	0.0465263334017623	0.04879	T	0.39886	0.10126	T	.	.	.	.	.	.	.	.	-3.096	0.11250	T	.	.	0.083	0.09191	B	.	.	0.323582	0.06979	3.532	0.70516184951874417	0.09321	0.00278	0.01504	N	AEFGBI	0.034974	0.04426	N	-1.1441077205401	0.05877	0.2691008	-1.29943115007538	0.04439	0.2093725	0.00278882824345698	0.09705	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	-0.916	0.09956	0.236000	0.17745	.	.	0.245000	0.18292	0.167000	0.23894	0.053000	0.21875	0.081000	0.17303	.	.	.	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.1389	722.94	38	chr10	95711979	.	C	G	722.94	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-8.280e-01;DP=756;ExcessHet=1.1607;FS=1.533;InbreedingCoeff=-0.1834;MLEAC=6;MLEAF=0.167;MQ=57.11;MQRankSum=-5.592e+00;QD=4.15;ReadPosRankSum=-2.350e-01;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,7:39:99:0|1:95711925_A_T:155,0,1323:95711925	13	0	5	3
chr10	96332363	96332363	T	C	exonic	DNTT	.	nonsynonymous SNV	DNTT:NM_001017520:exon9:c.T1126C:p.Y376H	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	0.96	T	-0.600	T	0.253	T	0.663	4.202	21.8	5.81	2.220	7.241	14.113	0.438	.	.	0.00199681	0.0016	9.748e-05	0	0	0	0	0.0011	0.0116	0.0013325	206	154602	rs544251536	0.0007	0.0007	0.0004	0.0010	0.0115	0.0007	0.0007	0.0109	0.0107	2.991e-05	0	0	5.039e-05	0	0.0003	6.296e-06	0.0009	0.0115	0.0004	0.0004	0.0002	0.0007	0.0128	0.0003	0.0003	0.0103	0.0093	7.214e-05	0	0	0	0	0	0	0	0	0.0128	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	0.999839	0.49637	D	2.85	0.82803	M	0.96	0.42888	T	-4.09	0.74821	D	0.869	0.86618	-0.5998	0.64826	T	0.253	0.62281	T	10	0.024309874	0.00664	T	.	.	.	0.438	0.74235	0.642	0.77903	0.865398498921	0.86409	0.653960137757717	0.65332	0.56675199457	0.52955	0.616972565651	0.55301	T	0.562433	0.85375	D	-0.255958	0.13378	T	-0.130054	0.60967	T	0.164327701178445	0.18186	T	0.883612	0.60617	D	0.78002733	0.82655	0.85218716	0.91651	0.78002733	0.82657	0.85218716	0.91651	-5.376	0.43335	T	.	.	0.338	0.56429	B	.;.	.;.	3.923762	0.57305	23.8	0.99853611339863402	0.93279	0.97894	0.77931	D	AEBI	0.859143	0.77677	D	0.791354794330658	0.85560	8.612952	0.775443068687088	0.88038	9.435159	0.999999918419546	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.81	5.81	0.92413	7.226000	0.77541	7.887000	0.72831	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.0:0.0:1.0	14.113	0.64661	451	0.79296	DNA-directed DNA polymerase X|DNA-directed DNA polymerase X;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1372.98	34	chr10	96332363	.	T	C	1372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.28;DP=796;ExcessHet=0.0000;FS=1.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.76;ReadPosRankSum=1.26;SOR=0.960	GT:AD:DP:GQ:PL	0/1:46,47:93:99:1387,0,1205	20	0	1	0
chr10	99879911	99879911	T	C	exonic	DNMBP	.	nonsynonymous SNV	DNMBP:NM_001318326:exon13:c.A3344G:p.N1115S	.	.	418	1101	3	0	0	3	0.00136054	.	.	3203491	DNMBP-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.028	B	0.007	B	0.004	N	0.978	N	0.625	N	2.73	T	-1.039	T	0.050	T	0.021	1.732	11.75	3.13	0.882	0.518	8.441	0.041	0.00641411738027	.	0.000798722	0.0007	0	0	0	0	1.498e-05	0.0011	0.0050	0.0005821	90	154602	rs200530625	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0046	5.974e-05	0	0	2.519e-05	0	0.0007	8.093e-06	0.0003	0.0052	0.0002	0.0002	0.0001	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0054	0.099	0.30656	T	0.287	0.21210	T	0.008	0.14655	B	0.005	0.11217	B	0.003603	0.34713	N	0.129883	0.977928	0.25282	N	1.98	0.53716	M	2.68	0.12371	T	-1.49	0.36385	N	0.101	0.08366	-1.0392	0.17556	T	0.050	0.21378	T	10	0.0057646036	0.00128	T	0.006414	0.16870	T	0.041	0.10877	.	.	0.425970041486	0.42213	0.2236812327213109	0.22283	0.12052743132	0.13571	0.35972905159	0.19346	T	0.028153	0.20459	T	-0.674723	0.00052	T	-0.740879	0.03854	T	0.0249474992130272	0.01265	T	0.814918	0.46941	T	0.09301009	0.21834	0.07167412	0.15375	0.09301009	0.21834	0.07167412	0.15375	-2.321	0.04672	T	.	.	0.079	0.08609	B	.;.;.	.;.;.	1.009594	0.13885	10.44	0.98786913760995021	0.46222	0.38800	0.26070	N	AEFDGBCI	0.069021	0.13641	N	-0.69361483742264	0.16202	0.8234035	-0.587738692009003	0.19812	1.06468	0.999999627637161	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.49	3.13	0.35090	0.537000	0.22854	0.167000	0.15474	0.663000	0.56723	0.186000	0.24138	0.000000	0.08366	0.141000	0.19983	0.0:0.1535:0.0:0.8465	8.441	0.31973	554	0.71839	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3343.98	40	chr10	99879911	.	T	C	3343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.904;DP=996;ExcessHet=0.0000;FS=4.026;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=-1.932e+00;SOR=0.945	GT:AD:DP:GQ:PL	0/1:145,131:276:99:3358,0,3713	20	0	1	0
chr10	101006872	101006872	C	T	exonic	LZTS2	.	nonsynonymous SNV	LZTS2:NM_001318101:exon3:c.C1054T:p.R352W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.581	P	0.001	D	0.998	D	1.79	L	0.61	T	-0.806	T	0.164	T	0.764	4.518	24.3	3.17	0.607	1.193	13.087	0.276	0.116010814835	.	.	.	.	.	.	.	.	.	.	.	.	.	rs924657673	1.526e-05	3.831e-05	1.567e-05	1.483e-05	0.0004	9.81e-06	8.32e-06	7.101e-05	2.958e-05	0	2.893e-05	9.086e-05	0	0	0.0004	1.219e-05	0	4.05e-05	6.578e-06	6.568e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.068	0.44106	T	0.977	0.58535	D	0.581	0.50218	P	0.000561	0.43413	D	0.195957	0.998493	0.44993	D	2.105	0.58435	M	0.61	0.53516	T	-4.7	0.79829	D	0.381	0.42247	-0.8059	0.54795	T	0.164	0.50176	T	10	0.3054611	0.48063	T	0.116011	0.79537	D	0.276	0.59253	.	.	0.551663723333	0.54823	0.44117365238653544	0.44034	0.452373610566	0.44962	0.731557548046	0.71733	T	0.232391	0.59894	T	0.0968641	0.63951	D	-0.0986379	0.63504	T	0.395498492301823	0.28772	T	0.890411	0.62412	D	0.43412915	0.63021	0.4630955	0.68830	0.43412915	0.63022	0.4630955	0.68831	-6.625	0.51244	T	.	.	0.171	0.37558	B	.;.	.;.	4.637270	0.73792	26.0	0.99915215516181755	0.98379	0.82672	0.41868	D	AEFDBCI	0.717002	0.66866	D	0.257859650992913	0.54028	3.569552	0.237440363705687	0.51937	3.372202	0.999999850651305	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.1	3.17	0.35510	1.290000	0.32925	4.001000	0.41074	0.524000	0.24156	0.879000	0.30968	1.000000	0.68203	0.979000	0.57723	0.2929:0.7071:0.0:0.0	13.087	0.58558	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1956.11	33	chr10	101006872	.	C	T	1956.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.82;DP=874;ExcessHet=0.1072;FS=0.655;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=0.838;SOR=0.807	GT:AD:DP:GQ:PL	0/1:37,47:84:99:1267,0,803	19	0	2	0
chr10	101605168	101605168	C	G	exonic	DPCD	.	nonsynonymous SNV	DPCD:NM_001329744:exon5:c.C433G:p.P145A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	.	.	0.3	T	-0.918	T	0.126	T	0.051	1.683	11.58	-4.06	-0.859	-0.619	1.337	0.077	0.00342584717201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.3	0.58755	T	-3.26	0.65397	D	0.079	0.05414	-0.9178	0.45851	T	0.126	0.43153	T	6	0.17214775	0.31972	T	0.003426	0.07694	T	0.077	0.22490	0.451	0.51285	0.522664700966	0.51911	.	.	.	.	.	.	.	0.24618	0.61561	T	-0.265091	0.12310	T	-0.618562	0.11297	T	0.192367827105493	0.19983	T	0.325467	0.06691	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.10979	B	.;.	.;.	0.910913	0.12853	9.366	0.78915064859835904	0.12509	0.00988	0.03756	N	AEFDGBIJ	0.014753	0.00248	N	-0.717671544713143	0.15525	0.7831734	-0.927035819094987	0.11457	0.5837898	0.33198778353861	0.19495	0.57788	0.32782	0	0.550933	0.16991	0	0.608075	0.38828	0	0.491896	0.07777	0	.	.	4.29	-4.06	0.03718	-0.618000	0.05674	-0.825000	0.07279	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.114000	0.18915	0.189:0.3211:0.2991:0.1908	1.337	0.02017	365	0.84644	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	856.98	33	chr10	101605168	.	C	G	856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.260;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.02;ReadPosRankSum=-1.938e+00;SOR=0.716	GT:AD:DP:GQ:PL	0/1:81,41:122:99:871,0,2112	20	0	1	0
chr10	103801317	103801317	T	C	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_014631:exon2:c.A118G:p.I40V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.498	P	0.421	B	0.001	D	1.000	D	0.55	N	-0.1	T	-0.849	T	0.180	T	0.29	3.643	18.53	6.03	2.313	6.913	12.952	0.171	0.0110154984197	.	.	8.334e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs779004473	5.478e-06	5.472e-06	4.088e-06	6.882e-06	3.479e-05	2.36e-06	1.7e-06	9.24e-06	4.56e-06	2.99e-05	0	0	0	0	0	2.701e-06	1.657e-05	3.479e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	7.242e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.242e-05	0	0	0	0	0	0	0	0	0	0.238	0.17881	T	0.187	0.28764	T	0.498	0.37115	P	0.421	0.45113	B	0.000513	0.43753	D	0.143574	0.999804	0.49283	D	0.6	0.15550	N	-0.1	0.64264	T	-0.44	0.14588	N	0.697	0.70527	-0.8488	0.52051	T	0.180	0.52736	T	10	0.5064326	0.61845	D	0.011015	0.28187	T	0.171	0.43483	0.538	0.64874	0.65995756008	0.65711	0.1646311746529899	0.16383	0.987518613566	0.73965	0.752776861191	0.74857	T	0.025939	0.19295	T	-0.192651	0.21871	T	-0.332978	0.41137	T	0.678638219833374	0.39726	D	0.935106	0.75644	D	0.07774427	0.17664	0.072810315	0.15750	0.07774427	0.17664	0.072810315	0.15750	-7.834	0.61383	D	.	.	0.128	0.30291	B	.;.	.;.	4.413317	0.68290	25.2	0.99772856680177791	0.86088	0.92511	0.55883	D	AEFDGBCI	0.829671	0.74854	D	0.238866573607491	0.53090	3.479604	0.400687814287206	0.61608	4.363275	0.999999999998892	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	6.03	6.03	0.97798	7.050000	0.76333	7.861000	0.71444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.952	0.57805	88	0.96322	Phox homologous domain|Phox homologous domain|Phox homologous domain|SH3PXD2, PX domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1491.98	38	chr10	103801317	.	T	C	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.56;DP=813;ExcessHet=0.0000;FS=1.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=0.741;SOR=0.807	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1506,0,1217	20	0	1	0
chr10	104186084	104186084	C	T	exonic	CFAP43	.	nonsynonymous SNV	CFAP43:NM_025145:exon15:c.G1900A:p.V634I,	.	.	439	1079	3	1	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	B	0.006	B	0.397	N	0.998	N	0.55	N	1.75	T	-1.008	T	0.001	T	0.035	-0.837	0.582	-5.56	-0.940	-0.481	7.663	0.018	.	0.0005	0.0191693	0.0101	0.0008	0.0403	0.0786	0	0.0003	0.0023	0.0014	0.0088809	1373	154602	rs17116635	0.0035	0.0038	0.0037	0.0034	0.0964	0.0034	0.0034	0.0938	0.0927	0.0003	0.0278	0	0.0964	0	0	7.753e-05	0.0039	0.0011	0.0043	0.0043	0.0041	0.0045	0.0820	0.0040	0.0039	0.0755	0.0730	0.0008	0	0.0108	0	0.0820	0	0	0.0001	0.0033	0.0027	0.762	0.03984	T	0.766	0.19188	T	0.0	0.02946	B	0.002	0.06944	B	0.397230	0.13174	N	0.600167	1	0.08975	N	.	.	.	1.75	0.26152	T	0.16	0.05917	N	0.028	0.00618	-1.0083	0.27448	T	0.001	0.00318	T	9	0.0011375546	0.00013	T	.	.	.	0.018	0.03083	.	.	0.115124310173	0.11017	0.11736952144526015	0.11664	0.106296802578	0.12020	0.319176197052	0.13295	T	0.029015	0.20885	T	-0.755221	0.00016	T	-0.780122	0.02450	T	0.00149780474840413	0.00015	T	0.628437	0.24588	T	0.027331298	0.01909	0.024733126	0.00499	0.022663727	0.00944	0.024733126	0.00498	-3.286	0.13558	T	.	.	0.090	0.12750	B	.;.	.;.	0.345836	0.07190	3.781	0.39824103142942374	0.02772	0.01242	0.04380	N	AEFBI	0.037320	0.05114	N	-1.30760202589618	0.03588	0.1605219	-1.34645429885038	0.03847	0.1803239	0.0741851148048698	0.15658	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.95	-5.56	0.02328	-0.454000	0.06845	-0.672000	0.07929	-0.176000	0.10722	0.031000	0.20493	0.016000	0.20520	0.939000	0.47918	0.0:0.1748:0.2394:0.5858	7.663	0.27584	97	0.95994	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	821.98	36	chr10	104186084	.	C	T	821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.880e-01;DP=752;ExcessHet=0.0000;FS=0.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=1.99;SOR=0.525	GT:AD:DP:GQ:PL	0/1:27,35:62:99:836,0,607	20	0	1	0
chr10	110207935	110207935	G	A	exonic	MXI1	.	nonsynonymous SNV	MXI1:NM_130439:exon1:c.G127A:p.A43T,	Neurofibrosarcoma (3)	.	405	1115	2	0	0	2	0.000896057	.	.	796357	MXI1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.025	B	0.018	B	0.697	U	1.000	D	0.69	N	0.79	T	-1.047	T	0.097	T	0.063	2.041	12.78	2.54	0.874	3.210	8.784	0.088	0.110659963475	0.0025	0.000798722	0.0022	0.0007	0.0015	0	0.0012	0.0031	0	0.0017	0.0016106	249	154602	rs141964073	0.0027	0.0027	0.0028	0.0026	0.0032	0.0026	0.0026	0.0031	0.0031	0.0006	0.0010	0	0	0.0005	0.0006	0.0032	0.0025	0.0012	0.0019	0.0019	0.0022	0.0017	0.0033	0.0018	0.0017	0.0030	0.0028	0.0007	0	0.0017	0	0	0.0002	0	0.0033	0.0024	0.0017	0.007	0.59928	D	0.228	0.59159	T	0.025	0.19245	B	0.018	0.18489	B	0.697246	0.06181	U	1.198500	0.991672	0.24000	N	.	.	.	0.79	0.49068	T	-0.29	0.11728	N	0.205	0.22742	-1.0474	0.15130	T	0.097	0.36315	T	10	0.008568615	0.00194	T	0.11066	0.78813	D	0.088	0.25558	.	.	0.176862962021	0.17281	0.38738750338664163	0.38653	0.545405473843	0.51576	0.777483582497	0.78549	T	.	.	.	-0.55856	0.00259	T	-0.579725	0.14568	T	0.0611183637600256	0.07344	T	0.69993	0.30971	T	.	.	.	.	.	.	.	.	-5.407	0.40987	T	.	.	0.081	0.08465	B	.;.	.;.	2.557977	0.33119	19.25	0.99428981775484293	0.64179	0.39342	0.26191	N	AEFDBCI	0.123198	0.23869	N	-0.372434177743718	0.26456	1.443973	-0.257400526258589	0.29516	1.654343	0.999977749199741	0.50053	0.455138	0.09556	0	0.609123	0.50646	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.64	2.54	0.29674	4.526000	0.60280	2.709000	0.34221	0.548000	0.25860	1.000000	0.71638	0.999000	0.35428	0.493000	0.28859	0.0:0.0:0.5893:0.4107	8.784	0.33968	941	0.13089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1832.98	45	chr10	110207935	.	G	A	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=1.53;SOR=0.761	GT:AD:DP:GQ:PL	0/1:54,74:128:99:1847,0,1110	20	0	1	0
chr10	113850002	113850002	C	T	exonic	DCLRE1A	.	nonsynonymous SNV	DCLRE1A:NM_014881:exon2:c.G1103A:p.R368Q	.	.	423	1064	33	2	0	37	0.0170901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.0	B	0.0	B	0.763	N	1.000	N	-1.3	N	-0.07	T	-0.994	T	0.056	T	0.058	-0.505	1.688	2.4	0.511	0.374	4.842	0.063	0.00900799210836	0.0018	0.000998403	0.0028	0.0002	0.0004	0	0.0003	0.0028	0.0099	0.0078	0.0026326	407	154602	rs34407062	0.0030	0.0030	0.0027	0.0032	0.0091	0.0029	0.0029	0.0085	0.0083	0.0007	0.0007	0.0018	0	0.0007	0.0085	0.0029	0.0030	0.0091	0.0018	0.0018	0.0018	0.0018	0.0089	0.0016	0.0016	0.0068	0.0061	0.0004	0	0.0006	0.0012	0	0.0002	0.0170	0.0028	0.0028	0.0089	1.0	0.00964	T	0.965	0.02516	T	0.0	0.02946	B	0.0	0.01387	B	0.762884	0.09609	N	0.898328	1	0.08975	N	-1.445	0.00556	N	-0.07	0.63738	T	0.97	0.01467	N	0.023	0.00407	-0.9942	0.31512	T	0.056	0.23639	T	10	0.0034727156	0.00062	T	0.009008	0.23726	T	0.063	0.18251	.	.	0.46435556306	0.46064	0.05865013345647209	0.05806	0.130787246225	0.14758	0.202702075243	0.00539	T	0.035961	0.23920	T	-0.610291	0.00126	T	-0.643161	0.09441	T	0.00196664463206678	0.00020	T	0.534247	0.17838	T	0.020521026	0.00614	0.036115486	0.02995	0.020521026	0.00614	0.036115486	0.02994	-2.421	0.05263	T	.	.	0.062	0.01408	B	.;.	.;.	0.426492	0.07970	4.682	0.66527565912203024	0.08085	0.00128	0.00795	N	AEFBI	0.021531	0.00969	N	-1.41558403862917	0.02501	0.1105539	-1.28444773454241	0.04640	0.2193375	0.999778364301915	0.42865	0.566229	0.32551	0	0.586065	0.33999	0	0.658983	0.55881	0	0.674467	0.66132	0	.	.	6.02	2.4	0.28568	0.265000	0.18282	0.638000	0.20293	-0.114000	0.14653	0.000000	0.06391	0.419000	0.24798	0.112000	0.18829	0.1297:0.2833:0.0:0.587	4.842	0.12857	932	0.16191	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2415.98	33	chr10	113850002	.	C	T	2415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=918;ExcessHet=0.0000;FS=6.188;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=-2.290e+00;SOR=0.849	GT:AD:DP:GQ:PL	0/1:93,93:186:99:2430,0,2110	20	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.104	B	0.024	B	0.101	N	0.919	D	1.04	L	-1.98	D	-0.339	T	0.434	T	0.463	2.178	13.24	5.68	2.837	2.613	15.630	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	3789.59	132	chr10	117341050	.	C	T	3789.59	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-3.850e+00;DP=2047;ExcessHet=6.1002;FS=296.226;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.464;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=1.38;SOR=10.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,37:151:99:0|1:117341048_C_T:276,0,3447:117341048	4	0	10	7
chr10	122600066	122600066	T	C	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon17:c.T1786C:p.S596P	.	.	422	1098	1	1	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.908	P	0.287	B	.	.	1.000	N	0.345	N	0.88	T	-1.054	T	0.043	T	0.142	-0.596	1.332	-2.36	-0.973	-6.693	2.551	0.032	.	.	0.0153754	6.658e-05	0.0002	8.787e-05	0	0	5.999e-05	0	6.115e-05	0.0008797	136	154602	rs200551848	6.689e-05	0.0009	6.31e-05	7.072e-05	0.0004	5.606e-05	5.194e-05	0.0002	0.0002	0.0002	0.0004	3.842e-05	0.0002	0	0.0004	3.069e-05	0.0001	0.0003	0.0015	0.0067	0.0014	0.0015	0.0030	0.0013	0.0012	0.0025	0.0023	0.0030	0.0011	0.0015	0.0003	0.0017	0.0007	0	0.0007	0.0010	0.0023	0.381	0.18757	T	0.201	0.27503	T	0.908	0.50127	P	0.287	0.40572	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.88	0.46028	T	-1.04	0.29114	N	0.237	0.26717	-1.0543	0.13225	T	0.043	0.18368	T	9	0.0056428015	0.00125	T	.	.	.	0.032	0.07718	.	.	0.249502417897	0.24576	0.10117281565848144	0.10048	0.0621019868724	0.06914	0.409637480974	0.26406	T	0.039658	0.25264	T	-0.485901	0.00684	T	-0.699071	0.05876	T	0.0112852624786041	0.00167	T	0.00413959	0.00049	T	0.059525542	0.12107	0.05336415	0.08975	0.059525542	0.12107	0.05336415	0.08975	-6.575	0.51092	T	.	.	0.129	0.27732	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.553014	0.01704	0.124	0.37962997346849098	0.02533	0.00166	0.00985	N	AEFBI	0.134162	0.25407	N	-1.67157950594998	0.00947	0.04104014	-1.80450548160185	0.00745	0.03319789	4.78350671228069E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.18	-2.36	0.06282	-7.096000	0.00056	.	.	-2.592000	0.00237	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1958:0.0:0.3025:0.5017	2.551	0.04460	776	0.48302	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	322.1	33	chr10	122600066	.	T	C	322.1	.	AC=2;AF=0.048;AN=42;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9990;MLEAC=2;MLEAF=0.048;MQ=39.78;QD=28.52;SOR=4.615	GT:AD:DP:GQ:PL	1/1:0,9:9:27:350,27,0	20	1	0	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.022	B	0.000	D	0.958	D	1.825	L	2.91	T	-1.066	T	0.029	T	0.723	2.839	15.46	5.44	2.534	6.005	16.179	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3947	1430.69	126	chr10	122983003	.	G	C	1430.69	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.692e+00;DP=2620;ExcessHet=17.4423;FS=177.818;InbreedingCoeff=-0.5926;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.541;SOR=13.321	GT:AD:DP:GQ:PL	0/1:72,37:125:99:142,0,1123	4	0	15	2
chr10	124021238	124021238	G	-	exonic	CHST15	.	frameshift deletion	CHST15:NM_001270765:exon6:c.1365delC:p.R456Vfs*28	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:31,0,16,0:47:99:.:.:282,375,1082,0,707,659,375,1082,707,1082	0	0	1	0
chr10	124021238	124021238	-	GG	exonic	CHST15	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1364_1365insCC:p.R456Pfs*29	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:31,0,16,0:47:99:.:.:282,375,1082,0,707,659,375,1082,707,1082	0	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S	.	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.42	B	0.406	B	0.041	N	0.547	N	-0.345	N	-1.58	D	-0.266	T	0.330	T	0.333	1.581	11.24	3.98	0.967	1.940	11.061	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	25745.43	127	chr10	124989543	.	T	C	25745.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.935e+00;DP=2756;ExcessHet=43.6797;FS=18.332;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=49.30;MQRankSum=-8.794e+00;QD=9.77;ReadPosRankSum=0.699;SOR=0.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,30:149:99:0|1:124989533_G_A:718,0,4794:124989533	1	0	20	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36	.	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	13474.39	125	chr10	124989564	.	TG	T	13474.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.297e+00;DP=2881;ExcessHet=43.6797;FS=16.961;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=51.38;MQRankSum=-8.258e+00;QD=5.07;ReadPosRankSum=-1.778e+00;SOR=0.329	GT:AD:DP:GQ:PL	0/1:122,22:144:99:359,0,4098	1	0	20	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H	.	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.48	M	-1.64	D	0.598	D	0.722	D	0.666	4.396	23.3	5.36	2.030	7.698	15.357	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7883.4	152	chr10	124994489	.	T	G	7883.4	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.91;DP=3256;ExcessHet=54.0936;FS=22.490;InbreedingCoeff=-0.9843;MLEAC=21;MLEAF=0.500;MQ=58.49;MQRankSum=-7.468e+00;QD=2.53;ReadPosRankSum=-3.768e+00;SOR=2.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,14:146:99:0|1:124994489_T_G:191,0,5474:124994489	0	0	21	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y	.	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.868	P	0.701	P	0.000	D	1.000	D	0.5	N	-1.36	T	-0.129	T	0.435	T	0.897	4.262	22.2	5.21	2.428	9.476	18.767	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11255.74	156	chr10	124994501	.	G	A	11255.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.168e+00;DP=3468;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.01;MQRankSum=-6.676e+00;QD=3.46;ReadPosRankSum=-2.867e+00;SOR=3.343	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,16:156:99:0|1:124994489_T_G:250,0,5765:124994489	0	0	21	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q	.	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.682	P	0.383	B	0.000	D	1.000	D	-0.56	N	-1.26	T	-0.801	T	0.184	T	0.76	2.740	15.12	1.37	0.279	1.859	8.31	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	11481.74	156	chr10	124994505	.	A	T	11481.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.11;DP=3557;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.84;MQRankSum=-6.427e+00;QD=3.53;ReadPosRankSum=-2.195e+00;SOR=3.365	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,17:156:99:0|1:124994489_T_G:286,0,5720:124994489	0	0	21	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F	.	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.82	M	-1.61	D	0.694	D	0.759	D	0.962	4.522	24.3	5.21	2.428	9.476	18.767	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	17751.74	151	chr10	124994530	.	G	A	17751.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.820e-01;DP=3935;ExcessHet=54.0936;FS=46.204;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.24;MQRankSum=-5.975e+00;QD=5.06;ReadPosRankSum=1.22;SOR=3.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,32:169:99:0|1:124994523_G_A:861,0,5531:124994523	0	0	21	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N	.	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.979	D	0.000	D	1.000	D	3.655	H	-1.86	D	0.923	D	0.835	D	0.591	4.999	29.4	5.21	2.428	7.487	18.767	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9863.05	143	chr10	124994542	.	C	T	9863.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.164e+00;DP=3993;ExcessHet=43.6797;FS=49.168;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=57.04;MQRankSum=-5.810e+00;QD=3.01;ReadPosRankSum=1.99;SOR=3.857	GT:AD:DP:GQ:PL	0/1:139,39:178:99:627,0,3882	0	0	20	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q	.	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.835	M	-1.85	D	0.754	D	0.782	D	0.972	4.559	24.7	5.42	2.054	8.962	15.466	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11569.05	148	chr10	124994563	.	A	T	11569.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.224e+00;DP=4131;ExcessHet=43.6797;FS=57.159;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=56.94;MQRankSum=-6.032e+00;QD=3.36;ReadPosRankSum=3.18;SOR=4.119	GT:AD:DP:GQ:PL	0/1:143,47:190:99:707,0,3964	0	0	20	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H	.	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.954	D	0.000	D	1.000	D	0.535	N	-1.71	D	0.130	D	0.526	D	0.874	4.527	24.4	4.51	1.255	3.829	13.270	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	27377.74	154	chr10	124994577	.	C	A	27377.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.280e+00;DP=4255;ExcessHet=54.0936;FS=61.004;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.96;MQRankSum=-6.569e+00;QD=7.23;ReadPosRankSum=2.73;SOR=4.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,48:198:99:0|1:124994577_C_A:1553,0,6045:124994577	0	0	21	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S	.	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.972	D	0.000	D	1.000	D	0.21	N	-1.24	T	0.015	D	0.436	T	0.965	4.582	24.9	4.73	2.329	7.484	18.072	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2613.45	155	chr10	124998077	.	C	G	2613.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.989e+00;DP=3731;ExcessHet=4.7172;FS=12.784;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.708e+00;QD=1.59;ReadPosRankSum=1.79;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,27:207:99:0|1:124998077_C_G:592,0,7438:124998077	2	0	9	10
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R	.	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.994	D	0.000	D	1.000	D	0.17	N	-1.31	T	0.036	D	0.482	T	0.76	4.180	21.6	4.73	2.329	9.471	18.072	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2556.39	158	chr10	124998080	.	G	C	2556.39	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-9.380e-01;DP=3732;ExcessHet=4.7172;FS=9.991;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.738e+00;QD=1.54;ReadPosRankSum=2.17;SOR=1.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,27:212:99:0|1:124998077_C_G:577,0,7664:124998077	2	0	9	10
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G	.	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.834	P	0.000	D	1.000	D	0.605	N	-1.44	T	-0.139	T	0.443	T	0.98	3.339	17.24	0.468	-0.119	-0.061	17.140	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4091	2505.45	158	chr10	124998087	.	T	C	2505.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.870e+00;DP=3764;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.73;MQRankSum=-8.711e+00;QD=1.49;ReadPosRankSum=3.13;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,27:212:99:0|1:124998077_C_G:577,0,7685:124998077	2	0	9	10
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W	.	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.345	M	-2.1	D	0.927	D	0.842	D	0.994	4.577	24.9	4.73	2.329	2.969	18.072	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2454.45	160	chr10	124998090	.	G	A	2454.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-6.220e-01;DP=3768;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.75;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=3.67;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,27:212:99:0|1:124998077_C_G:577,0,7665:124998077	2	0	9	10
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G	.	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.792	P	0.742	P	0.000	D	1.000	D	-2.125	N	-1.16	T	-0.313	T	0.196	T	0.932	4.200	21.8	4.73	1.888	8.957	14.522	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2457.45	157	chr10	124998111	.	A	C	2457.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.854e+00;DP=3819;ExcessHet=4.7172;FS=10.323;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=4.32;SOR=1.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,27:216:99:0|1:124998111_A_C:565,0,7849:124998111	2	0	9	10
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T	.	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.071	B	0.56	P	0.006	N	0.988	D	2.42	M	0.83	T	-0.464	T	0.283	T	0.768	3.273	16.99	4.73	1.888	7.155	14.522	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2409.45	160	chr10	124998113	.	A	G	2409.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.285e+00;DP=3825;ExcessHet=4.7172;FS=8.581;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.41;ReadPosRankSum=4.07;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,27:217:99:0|1:124998111_A_C:562,0,7886:124998111	2	0	9	10
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2: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	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	6.130	37	5.28	2.217	5.606	13.948	.	.	.	.	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	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1731.31	135	chr10	125039033	.	T	A	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.532e+00;DP=2371;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.76;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.141;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,16:149:99:0|1:125039033_T_A:261,0,5428:125039033	9	0	12	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R	.	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.001	B	.	.	1.000	N	1.61	L	-1.53	D	-0.716	T	0.384	T	0.78	2.124	13.06	5.28	2.217	5.606	13.948	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1731.31	135	chr10	125039035	.	T	C	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.484e+00;DP=2344;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.74;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.412;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,16:149:99:0|1:125039033_T_A:261,0,5428:125039033	9	0	12	0
chr10	132785412	132785414	CTT	-	exonic	NKX6-2	.	nonframeshift deletion	NKX6-2:NM_177400:exon2:c.445_447del:p.K149del,	.	.	.	.	.	.	.	.	.	.	.	1630773	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.00359425	0.0008	0.0102	0	0	0	1.818e-05	0.0014	0.0005	0.0001153	3	26028	rs371783510	0.0003	0.0003	0.0003	0.0002	0.0092	0.0002	0.0002	0.0084	0.0080	0.0092	0.0001	0	0	0	0	1.626e-05	0.0007	0.0004	0.0022	0.0022	0.0022	0.0023	0.0079	0.0020	0.0020	0.0072	0.0070	0.0079	0	0.0003	0	0	0	0	1.471e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1467.94	40	chr10	132785411	.	GCTT	G	1467.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.042;DP=934;ExcessHet=0.0000;FS=1.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.82;ReadPosRankSum=-1.175e+00;SOR=0.539	GT:AD:DP:GQ:PL	0/1:39,39:78:99:1482,0,1520	20	0	1	0
chr10	133186363	133186363	C	T	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon6:c.C1015T:p.P339S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.952	P	0.5	P	0.075	N	1.000	N	0.975	L	2.78	T	-1.015	T	0.030	T	0.1	0.658	7.526	-2.51	-0.613	0.040	9.275	0.043	0.00626467971827	.	.	6.051e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs370366188	4.04e-05	4.036e-05	1.499e-05	6.607e-05	0.0007	3.182e-05	2.913e-05	0.0005	0.0005	0	0	0	0	0	0	0	1.656e-05	0.0007	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.1	0.38742	T	0.952	0.54136	P	0.5	0.47649	P	0.075367	0.21227	N	0.431884	1	0.08975	N	.	.	.	2.78	0.17113	T	-3.4	0.70793	D	0.09	0.06854	-1.0148	0.25400	T	0.030	0.13111	T	10	0.04446858	0.03407	T	0.006265	0.16435	T	0.043	0.11576	0.213	0.13210	0.126345400529	0.12197	0.3125470952164852	0.31167	0.208063301715	0.23274	0.323703527451	0.13981	T	0.169778	0.51728	T	-0.514832	0.00471	T	-0.641037	0.09593	T	0.101405594268892	0.12510	T	0.582642	0.21138	T	0.20100436	0.42095	0.22502428	0.47433	0.20100436	0.42095	0.22502428	0.47432	-3.313	0.13906	T	.	.	0.084	0.14751	B	.;.	.;.	0.743353	0.11128	7.772	0.63350466198502686	0.07201	0.05139	0.10949	N	AEFDBI	0.045440	0.07432	N	-0.869617278647413	0.11571	0.5590796	-1.02673696601192	0.09199	0.4563484	0.036667730379573	0.14255	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.84	-2.51	0.05996	0.140000	0.15877	-0.374000	0.09587	0.567000	0.28720	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.3086:0.5945:0.0968	9.275	0.36857	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1740.98	34	chr10	133186363	.	C	T	1740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=1118;ExcessHet=0.0000;FS=1.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-1.083e+00;SOR=0.846	GT:AD:DP:GQ:PL	0/1:93,74:167:99:1755,0,2105	20	0	1	0
chr11	198573	198573	C	A	exonic	ODF3	.	nonsynonymous SNV	ODF3:NM_001286136:exon5:c.C522A:p.D174E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.004	B	0.030	N	1.000	D	0.41	N	1.69	T	-0.950	T	0.023	T	0.103	-0.250	2.799	-6.33	-0.984	-3.047	3.011	0.014	0.00820597343335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.030044	0.25365	N	0.268101	1	0.81001	D	0.155	0.08919	N	1.64	0.27822	T	1.74	0.00668	N	0.133	0.17278	-0.9502	0.40938	T	0.023	0.09696	T	10	0.052762896	0.05362	T	0.008206	0.21750	T	0.014	0.01968	0.286	0.24440	0.151262610727	0.14761	0.1927745557994467	0.19195	0.143935191747	0.16256	0.567253410816	0.48289	T	0.002603	0.01994	T	-0.305906	0.08114	T	-0.677189	0.07156	T	0.0599600215336194	0.07163	T	0.718928	0.33194	T	0.04284979	0.06573	0.0465013	0.06495	0.04284979	0.06573	0.0465013	0.06494	0.44	0.13789	T	.	.	0.105	0.19398	B	.;.;.	.;.;.	-1.773936	0.00166	0.002	0.86846420735291274	0.16812	0.07176	0.13201	N	AEFDBCI	0.102347	0.20533	N	-1.41439385619823	0.02512	0.1110182	-1.37003330218625	0.03575	0.1670495	0.986813936713101	0.31130	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.72	-6.33	0.01814	-4.842000	0.00209	-13.748000	0.00441	-1.929000	0.00500	0.000000	0.06391	0.000000	0.08366	0.447000	0.27828	0.1224:0.2359:0.1207:0.5209	3.011	0.05678	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	484.98	29	chr11	198573	.	C	A	484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=692;ExcessHet=0.0000;FS=2.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.480;SOR=1.244	GT:AD:DP:GQ:PL	0/1:23,19:42:99:499,0,497	20	0	1	0
chr11	376520	376520	C	A	exonic	B4GALNT4	.	nonsynonymous SNV	B4GALNT4:NM_178537:exon14:c.C1397A:p.A466D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.151	B	0.08	B	0.099	N	1.000	N	0.895	L	3.46	T	-0.930	T	0.018	T	0.464	-0.104	3.488	1.33	0.212	0.292	10.517	0.137	0.126044801279	.	0.000199681	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs566849763	3.613e-05	3.831e-05	3.703e-05	3.521e-05	0.0002	2.799e-05	2.475e-05	0.0001	8.501e-05	0	3.641e-05	0	0	0	0	2.275e-05	0.0002	0.0002	3.307e-05	3.284e-05	1.293e-05	5.415e-05	0.0001	1.267e-05	8.03e-06	2.268e-05	9.1e-06	2.422e-05	0	0.0001	0	0	0	0	2.961e-05	0	0	0.228	0.18434	T	0.569	0.08839	T	0.151	0.28027	B	0.08	0.28873	B	0.099219	0.02531	N	1.944250	1	0.08975	N	1.95	0.52479	M	3.46	0.05249	T	-0.08	0.08187	N	0.155	0.16028	-0.9305	0.44066	T	0.018	0.07234	T	10	0.08076897	0.13146	T	0.126045	0.80765	D	0.137	0.36984	0.167	0.07186	0.349806870941	0.34587	0.4594398692324601	0.45861	1.42165420262	0.85624	0.702835202217	0.67554	T	0.001396	0.00857	T	-0.362476	0.03992	T	-0.521779	0.20114	T	0.0952449962496758	0.11825	T	0.278972	0.04839	T	0.09086021	0.21275	0.09557061	0.22673	0.09086021	0.21274	0.09557061	0.22672	-5.621	0.42984	T	.	.	0.121	0.25100	B	.	.	0.699298	0.10679	7.376	0.53076682668698971	0.04869	0.10442	0.15948	N	AEFDI	0.042930	0.06722	N	-1.36685466636968	0.02954	0.1312308	-1.40689915186833	0.03182	0.1479358	0.0211518523586542	0.13324	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.31	1.33	0.20958	-0.045000	0.11957	-0.235000	0.10642	-0.554000	0.04884	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7973:0.0:0.2027	10.517	0.44081	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	408.98	26	chr11	376520	.	C	A	408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.040e-01;DP=594;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-1.395e+00;SOR=0.848	GT:AD:DP:GQ:PL	0/1:21,17:38:99:423,0,540	20	0	1	0
chr11	640177	640177	T	C	exonic	DRD4	.	nonsynonymous SNV	DRD4:NM_000797:exon3:c.T928C:p.C310R,	Autonomic nervous system dysfunction (3)	.	407	1112	3	0	0	3	0.0013471	.	.	3244642	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.005	B	0.003	B	0.092	U	1.000	N	.	.	-0.24	T	-1.073	T	0.113	T	0.162	-0.744	0.834	-2.35	-0.660	0.025	0.235	0.250	0.251679927718	.	0.000199681	0.0011	0	0	0	.	0.0005	0	0.0014	7.12e-05	11	154602	rs544091514	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0014	0.0013	6.438e-05	5.636e-05	4.009e-05	0	2.997e-05	0.0017	6.414e-05	0.0003	0.0016	0.0001	0.0001	0.0001	0.0001	0.0017	8.748e-05	7.324e-05	0.0008	0.0006	0	0	0	0	0	0	0.0034	0.0001	0.0005	0.0017	0.573	0.06125	T	0.364	0.16766	T	.	.	.	.	.	.	0.091944	0.02463	U	3.964970	1	0.08975	N	.	.	.	-0.24	0.66834	T	-0.75	0.21003	N	0.129	0.12341	-1.0725	0.08873	T	0.113	0.40261	T	9	0.012855351	0.00275	T	0.25168	0.89141	D	0.250	0.55888	0.309	0.28128	0.368369118721	0.36443	0.3079547994988335	0.30708	0.957870985297	0.72893	0.709866225719	0.68575	T	.	.	.	-0.449346	0.01139	T	-0.453609	0.27298	T	0.0275836064730576	0.01628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24157	B	.	.	0.902198	0.12763	9.280	0.2482697672020196	0.01116	0.01704	0.05416	N	AEFDBI	0.043152	0.06787	N	-1.23144798995314	0.04550	0.2055794	-1.37206547758665	0.03553	0.1659422	0.999515056286604	0.40117	0.65757	0.49021	0	0.514364	0.08380	0	0.619478	0.44681	0	0.620976	0.48614	0	.	.	1.83	-2.35	0.06302	0.380000	0.20331	-4.080000	0.02354	0.639000	0.52094	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.3868:0.1538:0.1965:0.2628	0.235	0.00172	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	851.98	37	chr11	640177	.	T	C	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.489e+00;DP=898;ExcessHet=0.0000;FS=3.397;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=-8.230e-01;SOR=0.336	GT:AD:DP:GQ:PL	0/1:29,38:67:99:866,0,749	20	0	1	0
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	62335.98	527	chr11	1016991	.	T	*,G	62335.98	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=3.01;DP=12391;ExcessHet=36.0830;FS=1.214;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=54.84;MQRankSum=-1.661e+01;QD=5.45;ReadPosRankSum=-4.007e+00;SOR=0.802	GT:AD:DP:GQ:PL	0/2:508,0,40:548:99:147,1677,23009,0,21331,21210	2	0	2	0
chr11	1017464	1017464	T	0	exonic	MUC6	.	.	.	.	.	358	217	98	1	848	948	0.187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	62761.5	562	chr11	1017464	.	T	G,C,*	62761.5	.	AC=4,11,5;AF=0.100,0.275,0.125;AN=40;BaseQRankSum=3.67;DP=13460;ExcessHet=43.6797;FS=0.579;InbreedingCoeff=-0.9535;MLEAC=4,11,5;MLEAF=0.100,0.275,0.125;MQ=56.28;MQRankSum=-1.476e+01;QD=5.03;ReadPosRankSum=3.18;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:290,105,208,0:603:99:.:.:7401,3971,16794,0,7105,10572,8337,16334,11385,20451	0	0	4	1
chr11	1017465	1017465	C	0	exonic	MUC6	.	.	.	.	.	334	991	23	0	174	197	0.0114713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	810.88	546	chr11	1017465	.	C	A,*	810.88	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.140e-01;DP=13242;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=2,6;MLEAF=0.059,0.176;MQ=55.99;MQRankSum=-7.141e+00;QD=0.16;ReadPosRankSum=-2.532e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:556,59,0:615:99:.:.:701,0,23148,2375,23326,25701	10	0	2	4
chr11	1017466	1017466	T	0	exonic	MUC6	.	.	.	.	.	0	26	52	0	148	200	0.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54938.57	566	chr11	1017466	.	T	C,A,*	54938.57	.	AC=13,3,5;AF=0.310,0.071,0.119;AN=42;BaseQRankSum=2.07;DP=13458;ExcessHet=54.0936;FS=0.611;InbreedingCoeff=-1.0000;MLEAC=13,3,5;MLEAF=0.310,0.071,0.119;MQ=56.42;MQRankSum=-1.354e+01;QD=4.16;ReadPosRankSum=3.19;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:403,149,60,0:612:99:.:.:5046,0,16472,3740,14405,20481,6258,16921,20662,23179	0	0	13	0
chr11	1017467	1017467	G	0	exonic	MUC6	.	.	.	.	.	336	797	216	0	173	389	0.119337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2402.58	548	chr11	1017467	.	G	A,*	2402.58	.	AC=6,3;AF=0.200,0.100;AN=30;BaseQRankSum=2.71;DP=13253;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=7,4;MLEAF=0.233,0.133;MQ=56.65;MQRankSum=-5.514e+00;QD=0.40;ReadPosRankSum=0.240;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:556,53,0:609:99:.:.:552,0,23187,2225,23346,25572	6	0	6	6
chr11	1017470	1017470	G	0	exonic	MUC6	.	.	.	.	.	0	29	117	0	80	197	0.668571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	88683.23	557	chr11	1017470	.	G	T,*	88683.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=0.038;DP=13562;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.458e+01;QD=7.02;ReadPosRankSum=3.68;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:398,204,0:602:99:0|1:1017440_C_T:7368,0,16098,8566,16712,25278:1017440	0	0	15	1
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	9671.86	554	chr11	1017471	.	C	T,*	9671.86	.	AC=10,4;AF=0.294,0.118;AN=34;BaseQRankSum=1.94;DP=13468;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=11,5;MLEAF=0.324,0.147;MQ=55.80;MQRankSum=-1.060e+01;QD=1.01;ReadPosRankSum=2.55;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:519,85,0:604:99:.:.:2007,0,21537,3569,21793,25362	3	0	10	4
chr11	1017474	1017474	G	0	exonic	MUC6	.	.	.	.	.	342	447	564	2	167	735	0.388509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	11964.24	565	chr11	1017474	.	G	A,*	11964.24	.	AC=13,5;AF=0.342,0.132;AN=38;BaseQRankSum=-3.530e-01;DP=13558;ExcessHet=30.0624;FS=0.861;InbreedingCoeff=-0.8261;MLEAC=14,5;MLEAF=0.368,0.132;MQ=56.37;MQRankSum=-7.879e+00;QD=1.05;ReadPosRankSum=1.66;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:542,59,0:601:99:0|1:1017458_A_G:846,0,22581,2477,22758,25236:1017458	1	0	13	2
chr11	1017483	1017483	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	81106.23	565	chr11	1017483	.	T	G,*	81106.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=6.32;DP=13450;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.502e+01;QD=6.50;ReadPosRankSum=3.20;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:415,171,0:586:99:0|1:1017440_C_T:5931,0,16911,7180,17426,24606:1017440	0	0	15	1
chr11	1017485	1017485	G	0	exonic	MUC6	.	.	.	.	.	345	838	28	1	310	340	0.017585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	8917.62	568	chr11	1017485	.	G	A,*	8917.62	.	AC=9,3;AF=0.300,0.100;AN=30;BaseQRankSum=3.65;DP=13357;ExcessHet=9.6308;FS=1.662;InbreedingCoeff=-0.5548;MLEAC=11,4;MLEAF=0.367,0.133;MQ=55.50;MQRankSum=-1.127e+01;QD=1.11;ReadPosRankSum=8.04;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:515,40,0:593:99:.:.:129,0,21504,1680,21625,23304	3	0	9	6
chr11	1017489	1017489	G	0	exonic	MUC6	.	.	.	.	.	344	749	262	0	167	429	0.148864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	7292.49	575	chr11	1017489	.	G	A,*	7292.49	.	AC=12,5;AF=0.300,0.125;AN=40;BaseQRankSum=5.22;DP=13481;ExcessHet=25.1139;FS=0.874;InbreedingCoeff=-0.6876;MLEAC=12,5;MLEAF=0.300,0.125;MQ=56.46;MQRankSum=-8.490e+00;QD=0.71;ReadPosRankSum=0.688;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:537,47,0:584:99:0|1:1017489_G_A:357,0,22407,1974,22549,24522:1017489	3	0	12	1
chr11	1017495	1017498	ATGC	0	exonic	MUC6	.	.	.	.	.	368	763	224	1	166	392	0.128995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	22503.92	584	chr11	1017495	.	ATGC	A,*	22503.92	.	AC=10,3;AF=0.313,0.094;AN=32;BaseQRankSum=3.43;DP=13485;ExcessHet=11.8493;FS=2.630;InbreedingCoeff=-0.5849;MLEAC=12,4;MLEAF=0.375,0.125;MQ=55.70;MQRankSum=-1.139e+01;QD=2.46;ReadPosRankSum=8.78;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:520,69,0:589:99:.:.:1332,0,21557,2897,21765,24662	3	0	10	5
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21074.63	572	chr11	1017498	.	C	G,T,*	21074.63	.	AC=7,4,7;AF=0.194,0.111,0.194;AN=36;BaseQRankSum=-3.970e-01;DP=13422;ExcessHet=30.0624;FS=1.184;InbreedingCoeff=-0.8667;MLEAC=8,4,8;MLEAF=0.222,0.111,0.222;MQ=56.34;MQRankSum=-1.681e+01;QD=1.81;ReadPosRankSum=3.85;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:321,103,81,68:573:99:.:.:2805,0,12713,469,9728,14335,1006,10256,11734,14962	0	0	7	3
chr11	1017504	1017504	G	0	exonic	MUC6	.	.	.	.	.	339	904	113	0	166	279	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	2301.88	593	chr11	1017504	.	G	A,*	2301.88	.	AC=6,4;AF=0.176,0.118;AN=34;BaseQRankSum=3.07;DP=13147;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3958;MLEAC=7,5;MLEAF=0.206,0.147;MQ=56.93;MQRankSum=-1.066e+01;QD=0.38;ReadPosRankSum=-8.910e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:532,41,0:573:79:0|1:1017489_G_A:79,0,22064,1681,22188,23869:1017489	7	0	6	4
chr11	1017514	1017514	A	0	exonic	MUC6	.	.	.	.	.	2	59	85	0	80	165	0.418719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	104987.83	590	chr11	1017514	.	A	G,*	104987.83	.	AC=15,4;AF=0.395,0.105;AN=38;BaseQRankSum=-1.403e+00;DP=13650;ExcessHet=36.0830;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=16,4;MLEAF=0.421,0.105;MQ=56.57;MQRankSum=-1.729e+01;QD=8.60;ReadPosRankSum=3.73;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:348,211,0:559:99:.:.:7181,0,13451,8228,14086,22314	0	0	15	2
chr11	1017522	1017522	T	0	exonic	MUC6	.	.	.	.	.	346	931	79	2	164	247	0.0426735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4405.44	578	chr11	1017522	.	T	G,*	4405.44	.	AC=3,3;AF=0.100,0.100;AN=30;BaseQRankSum=1.48;DP=13418;ExcessHet=1.7912;FS=0.769;InbreedingCoeff=-0.2727;MLEAC=4,4;MLEAF=0.133,0.133;MQ=56.24;MQRankSum=-6.364e+00;QD=1.00;ReadPosRankSum=3.23;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:468,88,0:556:99:.:.:1715,0,18903,3124,19167,22292	9	0	3	6
chr11	1017891	1017891	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4910A:p.A1637E,	.	.	342	893	161	0	126	287	0.0826913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.985	D	0.885	P	.	.	1.000	N	0.345	N	2.22	T	-1.093	T	0.035	T	0.087	0.677	7.621	-1.75	-0.596	-1.666	9.313	0.060	0.00160847877757	.	.	3.335e-05	0	0	0	0.0002	4.536e-05	0	0	.	.	.	.	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.113	0.36901	T	0.985	0.61118	D	0.885	0.62825	P	.	.	.	.	1	0.08975	N	1.3	0.32576	L	2.22	0.18248	T	-0.18	0.09796	N	0.053	0.02462	-1.0932	0.05020	T	0.035	0.15074	T	9	0.102692544	0.18837	T	0.001608	0.02600	T	0.060	0.17295	.	.	0.281780670237	0.27795	0.09278683405377418	0.09210	0.103695909574	0.11733	0.165941432118	0.00020	T	0.020064	0.15863	T	-0.330459	0.06077	T	-0.712458	0.05169	T	0.0870277977061818	0.10862	T	.	.	.	0.080301575	0.18392	0.11164214	0.26933	0.080301575	0.18391	0.11164214	0.26932	-9.307	0.69651	D	.	.	0.118	0.23986	B	.	.	1.309505	0.17126	12.97	0.3105354391461434	0.01730	0.01241	0.04378	N	AEFDGBCI	0.027707	0.02312	N	-0.93578728676145	0.10013	0.4765682	-1.16165150961472	0.06561	0.3162101	0.999990071190048	0.74766	0.675202	0.55065	0	0.606735	0.50208	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.39	-1.75	0.07598	-0.994000	0.03827	-3.104000	0.03058	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.4593:0.5407	9.313	0.37079	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	7053.15	335	chr11	1017891	.	GCA	G,TCA	7053.15	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=-2.652e+00;DP=9393;ExcessHet=0.6776;FS=3.414;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=56.21;MQRankSum=-1.089e+01;QD=3.00;ReadPosRankSum=-1.562e+00;SOR=1.070	GT:AD:DP:GQ:PL	0/2:418,55,129:602:99:4068,3038,20557,0,15163,17175	17	0	3	0
chr11	1017892	1017892	C	0	exonic	MUC6	.	.	.	.	.	354	873	156	4	135	299	0.0858639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3030.61	335	chr11	1017892	.	C	*,G	3030.61	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=-1.327e+00;DP=9322;ExcessHet=0.6776;FS=4.471;InbreedingCoeff=-0.1351;MLEAC=3,1;MLEAF=0.079,0.026;MQ=56.21;MQRankSum=-1.086e+01;QD=1.30;ReadPosRankSum=-1.667e+00;SOR=1.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:418,55,129:602:99:0|1:1017892_C_G:4068,3035,20512,0,15160,17175:1017892	15	0	3	2
chr11	1017980	1017980	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4821G:p.H1607Q,	.	.	377	1113	31	0	1	32	0.013735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.963	D	0.828	P	.	.	1.000	N	1.59	L	2.29	T	-1.044	T	0.055	T	0.046	-0.833	0.590	-0.544	-0.305	-1.592	3.857	0.018	0.00294131736266	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77536353	0	1.71e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.071	0.35165	T	0.546	0.09555	T	0.963	0.55692	D	0.828	0.59497	P	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.29	0.17113	T	-0.52	0.16187	N	0.064	0.03613	-1.0438	0.16177	T	0.055	0.23072	T	9	0.11826384	0.22355	T	0.002941	0.06250	T	0.018	0.03083	0.176	0.08257	0.338834610459	0.33488	0.12495968873936728	0.12421	0.089077498397	0.10066	0.168520405889	0.00027	T	0.028716	0.20737	T	-0.37366	0.03413	T	-0.774513	0.02623	T	0.0780681323622793	0.09738	T	.	.	.	0.03696404	0.04647	0.047161993	0.06733	0.03696404	0.04647	0.047161993	0.06733	-7.978	0.60920	D	.	.	0.096	0.15475	B	.	.	0.227088	0.06087	2.531	0.53594529813230063	0.04970	0.02502	0.06989	N	AEFDGBCI	0.045586	0.07473	N	-0.61535458523796	0.18482	0.9599189	-0.889736591911147	0.12336	0.6339777	0.98217000833971	0.30362	0.660377	0.49826	0	0.694456	0.67091	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.39	-0.544	0.11254	-0.991000	0.03839	-20.000000	0.00162	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2309:0.2258:0.5434:0.0	3.857	0.08487	825	0.40060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	750.74	261	chr11	1017980	.	G	C	750.74	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.83;DP=6631;ExcessHet=0.3300;FS=12.893;InbreedingCoeff=-0.0783;MLEAC=3;MLEAF=0.071;MQ=53.95;MQRankSum=-5.417e+00;QD=0.74;ReadPosRankSum=-1.618e+00;SOR=2.433	GT:AD:DP:GQ:PL	0/1:260,36:296:99:729,0,10809	18	0	3	0
chr11	1018226	1018226	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	11874.25	178	chr11	1018226	.	T	G,*	11874.25	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=4.07;DP=3953;ExcessHet=20.9642;FS=12.534;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=57.35;MQRankSum=-8.912e+00;QD=3.83;ReadPosRankSum=0.169;SOR=1.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:166,26,0:192:99:.:.:574,0,6892,1077,6970,8053	5	0	15	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	1624.13	178	chr11	1018228	.	G	*,A	1624.13	.	AC=5,11;AF=0.119,0.262;AN=42;BaseQRankSum=2.18;DP=4019;ExcessHet=20.9642;FS=26.259;InbreedingCoeff=-0.6149;MLEAC=5,11;MLEAF=0.119,0.262;MQ=57.37;MQRankSum=-8.668e+00;QD=0.53;ReadPosRankSum=-1.860e+00;SOR=3.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:176,0,14:190:58:.:.:58,594,8026,0,7364,7309	5	0	5	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L,	.	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.32	T	-1.013	T	0.014	T	0.033	-1.839	0.009	-4.82	-3.424	-4.810	0.642	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	5589.96	253	chr11	1018290	.	G	A,C	5589.96	.	AC=10,5;AF=0.238,0.119;AN=42;BaseQRankSum=4.42;DP=5021;ExcessHet=17.4423;FS=18.255;InbreedingCoeff=-0.5555;MLEAC=10,5;MLEAF=0.238,0.119;MQ=55.33;MQRankSum=-6.736e+00;QD=1.48;ReadPosRankSum=0.802;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:232,24,20:276:99:.:.:309,0,9669,168,8902,9849	6	0	10	0
chr11	1031202	1031202	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon5:c.G541A:p.G181R,	.	.	415	1086	21	0	0	21	0.00957592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.008	U	0.990	D	2.64	M	-0.07	T	-0.020	T	0.373	T	0.415	2.792	15.30	3.66	1.778	6.251	15.755	0.427	.	0.0009	0.00279553	0.0081	0.0004	0.0050	0.0005	0.0666	0.0066	0.0176	0.0068	0.0027102	419	154602	rs139011641	0.0022	0.0022	0.0020	0.0024	0.0159	0.0021	0.0021	0.0132	0.0123	0.0005	0.0014	0.0020	2.651e-05	0.0271	0.0159	0.0008	0.0031	0.0061	0.0030	0.0031	0.0016	0.0044	0.0043	0.0028	0.0027	0.0028	0.0024	7.331e-05	0	0.0017	0.0035	0.0002	0.0282	0.0136	0.0013	0.0038	0.0043	0.023	0.48186	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.007972	0.31093	U	0.000000	0.990232	0.41116	D	3.175	0.88760	M	-0.07	0.63738	T	-7.09	0.93950	D	0.471	0.50688	-0.0199	0.81841	T	0.373	0.73197	T	10	0.005497366	0.00121	T	.	.	.	0.427	0.73445	0.749	0.87988	0.802521860083	0.80068	0.8617723739993726	0.86141	0.106557750624	0.12047	0.55417406559	0.46446	T	0.183092	0.53531	T	-0.286525	0.09987	T	-0.182845	0.56258	T	0.191765278577805	0.19948	T	.	.	.	0.33262926	0.55684	0.37870377	0.62942	0.33262926	0.55684	0.37870377	0.62942	-8.624	0.65248	D	.	.	0.240	0.47371	B	.	.	3.293412	0.45176	22.1	0.99634560934350225	0.76264	0.98301	0.81414	D	AEFDBI	0.688841	0.64971	D	0.429867953025855	0.63072	4.534013	0.271884219551687	0.53903	3.557242	0.99998133804765	0.51787	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.66	3.66	0.41111	2.493000	0.44979	1.016000	0.23368	0.527000	0.24520	0.023000	0.19925	0.386000	0.24640	0.018000	0.11154	0.0:1.0:0.0:0.0	15.755	0.77783	835	0.38313	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	rs139011641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	711.11	40	chr11	1031202	.	C	T	711.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.701;DP=821;ExcessHet=0.1072;FS=1.663;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=6.97;ReadPosRankSum=-3.710e-01;SOR=0.509	GT:AD:DP:GQ:PL	0/1:29,21:50:99:469,0,736	19	0	2	0
chr11	1095600	1095600	T	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	568	942	10	2	0	14	0.00737619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222385839	0.0047	0.0034	0.0045	0.0050	0.0150	0.0046	0.0045	0.0118	0.0107	0.0008	0.0083	0.0210	3.364e-05	0.0004	0.0150	0.0040	0.0070	0.0070	0.0043	0.0042	0.0044	0.0042	0.0101	0.0040	0.0039	0.0088	0.0082	0.0011	0	0.0101	0.0201	0	0.0003	0.0368	0.0046	0.0070	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4219.11	74	chr11	1095600	.	T	A	4219.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.51;DP=2620;ExcessHet=0.1072;FS=2.297;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.88;MQRankSum=0.912;QD=12.34;ReadPosRankSum=0.733;SOR=0.823	GT:AD:DP:GQ:PL	0/1:73,75:148:99:2002,0,2041	19	0	2	0
chr11	1095948	1095948	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	143278.47	224	chr11	1095948	.	C	G,*	143278.47	.	AC=40,1;AF=0.952,0.024;AN=42;BaseQRankSum=1.49;DP=4120;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=40,1;MLEAF=0.952,0.024;MQ=54.83;MQRankSum=1.39;QD=32.74;ReadPosRankSum=1.46;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,168,0:229:99:.:.:4710,0,212,5115,723,6716	0	19	1	0
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	158783.66	219	chr11	1095999	.	A	T,C,*	158783.66	.	AC=40,1,1;AF=0.952,0.024,0.024;AN=42;BaseQRankSum=0.638;DP=4365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,1,1;MLEAF=0.952,0.024,0.024;MQ=58.57;MQRankSum=11.29;QD=24.86;ReadPosRankSum=-1.695e+00;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,181,9,0:190:99:.:.:5393,539,0,5292,440,5266,5393,539,5292,5393	0	19	0	0
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	37726.02	456	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	T,*	37726.02	.	AC=12,8;AF=0.286,0.190;AN=42;BaseQRankSum=2.69;DP=11682;ExcessHet=26.8223;FS=0.000;InbreedingCoeff=-0.7182;MLEAC=12,8;MLEAF=0.286,0.190;MQ=57.74;MQRankSum=-5.520e+00;QD=5.63;ReadPosRankSum=-1.130e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/1:227,138,0:365:99:5117,0,8617,6285,9492,18495	2	0	12	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:224,137,0:361:99:.:.:5103,0,8601,6210,9430,18090	1	0	17	1
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:224,137,0:361:99:.:.:5103,0,8601,6210,9430,18090	1	0	17	1
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	5334.59	473	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*,T	5334.59	.	AC=10,4;AF=0.313,0.125;AN=32;BaseQRankSum=2.94;DP=10251;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.6141;MLEAC=12,5;MLEAF=0.375,0.156;MQ=57.71;MQRankSum=-5.342e+00;QD=1.04;ReadPosRankSum=-1.810e+00;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:224,137,0:361:99:.:.:5103,0,8601,6210,9430,18090	2	0	10	5
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5333	9964.82	473	chr11	1096180	.	C	A,*	9964.82	.	AC=3,13;AF=0.100,0.433;AN=30;BaseQRankSum=1.20;DP=9719;ExcessHet=11.8260;FS=0.000;InbreedingCoeff=-0.6114;MLEAC=4,16;MLEAF=0.133,0.533;MQ=55.18;MQRankSum=-5.213e+00;QD=2.11;ReadPosRankSum=-3.960e-01;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:224,0,137:361:99:.:.:5103,6210,18090,0,9430,8601	0	1	1	6
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:224,137,0:361:99:.:.:5103,0,8601,6210,9430,18090	1	0	11	7
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:224,137,0:361:99:.:.:5103,0,8601,6210,9430,18090	1	0	11	7
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3281.3	481	chr11	1096211	.	A	*,C	3281.3	.	AC=11,2;AF=0.423,0.077;AN=26;BaseQRankSum=0.723;DP=9206;ExcessHet=15.1749;FS=0.000;InbreedingCoeff=-0.6204;MLEAC=15,3;MLEAF=0.577,0.115;MQ=57.49;MQRankSum=-5.247e+00;QD=0.68;ReadPosRankSum=2.33;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:224,137,0:361:99:.:.:5103,0,8601,6210,9430,18090	0	0	11	8
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:224,137,0:361:99:.:.:5103,0,8601,6210,9430,18090	0	0	8	11
chr11	1096212	1096212	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400696229	0.0042	0.0094	0.0040	0.0044	0.0105	0.0040	0.0039	0.0063	0.0057	0.0078	0.0031	0.0092	0.0039	0.0418	0.0105	0.0037	0.0060	0.0014	0.0038	0.0063	0.0033	0.0042	0.0040	0.0032	0.0030	0.0032	0.0029	0.0039	0	0.0038	0.0018	0.0024	0.0035	0	0.0040	0.0049	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:224,137,0:361:99:.:.:5103,0,8601,6210,9430,18090	0	0	8	11
chr11	1096664	1096664	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	61688.6	93	chr11	1096664	.	T	C,*	61688.6	.	AC=40,2;AF=0.952,0.048;AN=42;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=53.76;QD=30.39;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,106,0:106:99:.:.:3352,318,0,3352,318,3352	0	19	0	0
chr11	1096897	1096897	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	3680.93	78	chr11	1096897	.	A	G,*	3680.93	.	AC=18,1;AF=0.600,0.033;AN=30;BaseQRankSum=1.84;DP=894;ExcessHet=0.0009;FS=56.653;InbreedingCoeff=0.4463;MLEAC=23,1;MLEAF=0.767,0.033;MQ=39.56;MQRankSum=-1.082e+00;QD=11.29;ReadPosRankSum=-7.730e-01;SOR=2.505	GT:AD:DP:GQ:PL	1/1:1,15,0:16:38:462,38,0,465,45,472	4	8	2	6
chr11	1097308	1097308	-	ACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	exonic	MUC2	.	unknown	UNKNOWN,	.	.	646	865	11	0	0	11	0.00631821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0020	0.0020	0.0024	0.0112	0.0021	0.0021	0.0102	0.0098	0.0017	0.0027	0.0027	0.0112	0.0033	0.0023	0.0016	0.0026	0.0033	5.6e-05	8.507e-05	6.629e-05	4.543e-05	7.101e-05	2.136e-05	1.388e-05	1.883e-05	1.022e-05	4.239e-05	0	0	0	0	0.0002	0	7.101e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	3629.07	88	chr11	1097308	.	C	CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	3629.07	.	AC=6;AF=0.150;AN=40;BaseQRankSum=0.894;DP=4713;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.150;MQ=38.56;MQRankSum=1.03;QD=2.33;ReadPosRankSum=-3.810e+00;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:203,66:269:99:.:.:1792,0,5013	14	0	6	1
chr11	1097561	1097561	A	0	exonic	MUC2	.	.	.	.	.	747	760	8	1	6	16	0.00653595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	70.26	172	chr11	1097561	.	A	*,T	70.26	.	AC=3,2;AF=0.125,0.083;AN=24;BaseQRankSum=-1.230e+00;DP=3863;ExcessHet=1.3000;FS=0.790;InbreedingCoeff=-0.1465;MLEAC=4,2;MLEAF=0.167,0.083;MQ=53.93;MQRankSum=-6.511e+00;QD=0.08;ReadPosRankSum=-2.930e+00;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:185,0,19:204:79:0|1:1097561_A_T:79,528,7352,0,6890,6965:1097561	7	0	3	9
chr11	1097584	1097584	C	0	exonic	MUC2	.	.	.	.	.	640	870	3	3	6	15	0.0051458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	68.96	172	chr11	1097584	.	C	*,T	68.96	.	AC=2,2;AF=0.111,0.111;AN=18;BaseQRankSum=2.39;DP=3969;ExcessHet=0.6776;FS=1.941;InbreedingCoeff=-0.3284;MLEAC=4,4;MLEAF=0.222,0.222;MQ=55.29;MQRankSum=-7.894e+00;QD=0.09;ReadPosRankSum=0.222;SOR=0.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:193,0,19:212:53:0|1:1097561_A_T:53,528,8161,0,7703,7822:1097561	5	0	2	12
chr11	1097584	1097584	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	640	870	3	3	6	15	0.0051458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409182406	0.0007	0.0023	0.0006	0.0007	0.0014	0.0006	0.0006	0.0010	0.0009	0.0014	0.0009	0.0007	0.0011	0.0021	0.0003	0.0006	0.0007	0.0009	0.0004	0.0014	0.0002	0.0005	0.0016	0.0002	0.0001	0.0001	6.105e-05	0.0004	0	0.0004	0.0015	0	0.0008	0	0.0002	0	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	0.2222	68.96	172	chr11	1097584	.	C	*,T	68.96	.	AC=2,2;AF=0.111,0.111;AN=18;BaseQRankSum=2.39;DP=3969;ExcessHet=0.6776;FS=1.941;InbreedingCoeff=-0.3284;MLEAC=4,4;MLEAF=0.222,0.222;MQ=55.29;MQRankSum=-7.894e+00;QD=0.09;ReadPosRankSum=0.222;SOR=0.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:193,0,19:212:53:0|1:1097561_A_T:53,528,8161,0,7703,7822:1097561	5	0	2	12
chr11	1097586	1097586	T	0	exonic	MUC2	.	.	.	.	.	793	716	5	2	6	15	0.00624566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	34.69	172	chr11	1097586	.	T	*,C	34.69	.	AC=2,1;AF=0.100,0.050;AN=20;BaseQRankSum=2.33;DP=4017;ExcessHet=0.4139;FS=1.843;InbreedingCoeff=0.0053;MLEAC=3,2;MLEAF=0.150,0.100;MQ=54.85;MQRankSum=-8.086e+00;QD=0.06;ReadPosRankSum=3.06;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:196,0,19:215:43:0|1:1097561_A_T:43,528,8235,0,7794,8027:1097561	7	0	2	11
chr11	1098518	1098518	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	658	861	3	0	0	3	0.00173913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1315730742	0.0008	0.0016	0.0008	0.0008	0.0040	0.0008	0.0007	0.0032	0.0030	0.0014	0.0004	0.0012	0.0040	0.0019	0.0003	0.0007	0.0011	0.0004	0.0007	0.0012	0.0006	0.0007	0.0050	0.0004	0.0003	0.0005	0.0004	0.0004	0	0	0	0	0	0	0.0012	0	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	0.125	2125.72	120	chr11	1098518	.	C	T	2125.72	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-1.266e+00;DP=3397;ExcessHet=0.6776;FS=8.269;InbreedingCoeff=-0.1833;MLEAC=5;MLEAF=0.156;MQ=45.75;MQRankSum=1.12;QD=3.03;ReadPosRankSum=-3.120e+00;SOR=0.997	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,33:138:99:0|1:1098518_C_T:576,0,4082:1098518	12	0	4	5
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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2083	2025.55	120	chr11	1098538	.	T	C	2025.55	.	AC=5;AF=0.208;AN=24;BaseQRankSum=2.06;DP=3920;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.2947;MLEAC=7;MLEAF=0.292;MQ=45.13;MQRankSum=-5.024e+00;QD=2.34;ReadPosRankSum=-1.951e+00;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,14:130:99:0|1:1098518_C_T:160,0,4769:1098518	7	0	5	9
chr11	1098544	1098544	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	658	862	2	0	0	2	0.00115875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448886114	7.358e-05	0.0003	6.518e-05	8.21e-05	0.0008	6.06e-05	5.573e-05	0.0005	0.0004	8.331e-05	9.522e-05	4.776e-05	0.0008	0.0002	0.0002	5.216e-05	0.0002	0	0	9.614e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	776.3	120	chr11	1098544	.	C	A	776.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=1.96;DP=3953;ExcessHet=0.6776;FS=10.427;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=45.11;MQRankSum=-4.687e+00;QD=1.17;ReadPosRankSum=-1.717e+00;SOR=1.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,10:122:53:0|1:1098518_C_T:53,0,4662:1098518	16	0	4	1
chr11	1098548	1098548	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	658	860	4	0	0	4	0.00232019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371567749	0.0016	0.0017	0.0017	0.0015	0.0531	0.0015	0.0015	0.0504	0.0493	0.0531	0.0022	0.0001	0.0015	0.0006	0.0033	0.0002	0.0039	0.0001	0.0048	0.0059	0.0048	0.0048	0.0239	0.0040	0.0037	0.0198	0.0183	0.0239	0	0.0014	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1053	678.77	120	chr11	1098548	.	C	T	678.77	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.80;DP=3975;ExcessHet=0.6776;FS=8.640;InbreedingCoeff=-0.1351;MLEAC=4;MLEAF=0.105;MQ=44.89;MQRankSum=-4.819e+00;QD=1.05;ReadPosRankSum=-7.590e-01;SOR=1.554	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,10:114:77:0|1:1098518_C_T:77,0,4337:1098518	15	0	4	2
chr11	1098767	1098771	CACGG	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0018	0.0002	0.0002	0.0014	0.0013	0.0007	0.0004	0.0007	0.0018	9.672e-05	0.0004	0.0001	0.0004	4.215e-05	0.0001	0.0009	0.0002	5.622e-05	0.0004	6.479e-05	5.017e-05	7.601e-05	5.563e-05	7.967e-05	0	8.734e-05	0	0.0004	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	399.27	171	chr11	1098766	.	CCACGG	C	399.27	.	AC=2;AF=0.056;AN=36;BaseQRankSum=4.93;DP=3587;ExcessHet=0.1072;FS=1.598;InbreedingCoeff=-0.0909;MLEAC=2;MLEAF=0.056;MQ=41.34;MQRankSum=-2.120e+00;QD=1.77;ReadPosRankSum=2.07;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,24:91:99:0|1:1098766_CCACGG_C:325,0,2582:1098766	16	0	2	3
chr11	1098773	1098905	GACACCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCATGACACCCATCACCACCACCACC	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.027e-05	0.0003	5.825e-05	4.206e-05	0.0003	4.015e-05	3.649e-05	0.0002	0.0001	0.0002	9.418e-05	0.0002	0.0003	9.778e-05	0	3.548e-05	5.89e-05	0	8.581e-05	0.0007	8.538e-05	8.625e-05	0.0004	4.182e-05	3.058e-05	3.976e-05	2.073e-05	0.0001	0	0.0001	0.0004	0.0004	0	0	4.23e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	218.04	171	chr11	1098772	.	TGACACCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCATGACACCCATCACCACCACCACC	T	218.04	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.469;DP=3726;ExcessHet=0.0000;FS=0.728;InbreedingCoeff=-0.0633;MLEAC=1;MLEAF=0.028;MQ=41.25;MQRankSum=-1.872e+00;QD=1.66;ReadPosRankSum=2.89;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,22:131:99:0|1:1098766_CCACGG_C:231,0,3620:1098766	17	0	1	3
chr11	1098777	1098845	CCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACC	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	639	874	7	1	1	10	0.00512237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.043e-05	7.996e-05	2.655e-05	5.474e-05	0.0003	3.027e-05	2.684e-05	0.0002	0.0001	0.0001	0	5.758e-05	0	4.211e-05	0	2.517e-05	4.912e-05	0.0003	0.0001	0.0002	8.313e-05	0.0002	0.0015	3.312e-05	1.817e-05	.	.	0	0	0	0.0015	0.0015	0	0	7.545e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	550.99	162	chr11	1098776	.	ACCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACC	A,*	550.99	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=1.03;DP=3718;ExcessHet=0.1072;FS=0.872;InbreedingCoeff=-0.1203;MLEAC=1,1;MLEAF=0.031,0.031;MQ=35.17;MQRankSum=-2.072e+00;QD=2.40;ReadPosRankSum=2.82;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:109,0,22:131:99:0|1:1098766_CCACGG_C:231,528,4204,0,3676,3620:1098766	14	0	1	5
chr11	1098776	1098845	ACCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	550.99	162	chr11	1098776	.	ACCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTCCACCACCACTACGGTGACC	A,*	550.99	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=1.03;DP=3718;ExcessHet=0.1072;FS=0.872;InbreedingCoeff=-0.1203;MLEAC=1,1;MLEAF=0.031,0.031;MQ=35.17;MQRankSum=-2.072e+00;QD=2.40;ReadPosRankSum=2.82;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:109,0,22:131:99:0|1:1098766_CCACGG_C:231,528,4204,0,3676,3620:1098766	14	0	1	5
chr11	1098781	1098781	C	0	exonic	MUC2	.	.	.	.	.	634	850	36	0	2	38	0.0207373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	3468.15	182	chr11	1098781	.	C	T,*	3468.15	.	AC=7,2;AF=0.206,0.059;AN=34;BaseQRankSum=5.51;DP=3838;ExcessHet=4.7172;FS=16.398;InbreedingCoeff=-0.3588;MLEAC=8,2;MLEAF=0.235,0.059;MQ=37.99;MQRankSum=1.81;QD=2.74;ReadPosRankSum=6.000e-03;SOR=1.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:109,0,22:131:99:0|1:1098766_CCACGG_C:231,528,4204,0,3676,3620:1098766	8	0	7	4
chr11	1098794	1098794	C	0	exonic	MUC2	.	.	.	.	.	660	820	40	0	2	42	0.0238095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	2288.8	166	chr11	1098794	.	C	T,*	2288.8	.	AC=8,2;AF=0.222,0.056;AN=36;BaseQRankSum=4.68;DP=3810;ExcessHet=6.1002;FS=15.276;InbreedingCoeff=-0.3771;MLEAC=9,2;MLEAF=0.250,0.056;MQ=37.26;MQRankSum=1.73;QD=1.52;ReadPosRankSum=-1.122e+00;SOR=1.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:109,0,22:131:99:0|1:1098766_CCACGG_C:231,528,4204,0,3676,3620:1098766	8	0	8	3
chr11	1098795	1098795	G	0	exonic	MUC2	.	.	.	.	.	679	640	201	0	2	203	0.135719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	9572.22	147	chr11	1098795	.	G	A,*	9572.22	.	AC=7,1;AF=0.194,0.028;AN=36;BaseQRankSum=2.22;DP=3836;ExcessHet=3.7745;FS=1.215;InbreedingCoeff=-0.2250;MLEAC=8,1;MLEAF=0.222,0.028;MQ=35.69;MQRankSum=-3.090e-01;QD=4.86;ReadPosRankSum=0.919;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:109,0,22:131:99:0|1:1098766_CCACGG_C:231,528,4204,0,3676,3620:1098766	10	0	7	3
chr11	1098812	1098812	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1962.92	133	chr11	1098812	.	C	A,*	1962.92	.	AC=9,3;AF=0.250,0.083;AN=36;BaseQRankSum=2.08;DP=3561;ExcessHet=9.6308;FS=3.400;InbreedingCoeff=-0.4724;MLEAC=10,3;MLEAF=0.278,0.083;MQ=36.45;MQRankSum=0.209;QD=1.00;ReadPosRankSum=-2.579e+00;SOR=1.127	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:51,4,22:77:99:0|1:1098812_C_*:366,377,2398,0,1905,2113:1098812	6	0	9	3
chr11	1098813	1098813	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1884.38	133	chr11	1098813	.	C	*,T	1884.38	.	AC=3,9;AF=0.083,0.250;AN=36;BaseQRankSum=2.50;DP=3551;ExcessHet=9.6308;FS=3.047;InbreedingCoeff=-0.4710;MLEAC=3,10;MLEAF=0.083,0.278;MQ=36.42;MQRankSum=-1.580e-01;QD=0.91;ReadPosRankSum=-2.579e+00;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,22,4:77:99:0|1:1098812_C_*:366,0,2113,377,1905,2398:1098812	6	0	3	3
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	99733.73	157	chr11	1099370	.	G	A,*	99733.73	.	AC=36,6;AF=0.857,0.143;AN=42;BaseQRankSum=2.61;DP=6688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=36,6;MLEAF=0.857,0.143;MQ=54.00;MQRankSum=1.34;QD=23.82;ReadPosRankSum=0.267;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,212,0:213:99:.:.:6135,608,0,6138,630,6160	0	15	0	0
chr11	1183397	1183397	A	C	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.A5252C:p.K1751T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879044939	0.0013	0.0017	0.0013	0.0012	0.0056	0.0012	0.0012	0.0046	0.0042	0.0056	0.0016	0.0022	0.0010	0.0002	0.0011	0.0012	0.0011	0.0010	0.0017	0.0030	0.0020	0.0015	0.0039	0.0015	0.0015	0.0034	0.0032	0.0039	0	0.0017	0.0023	0.0010	9.769e-05	0	0.0009	0.0010	0.0014	.	.	.	0.278	0.21812	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.18920	.	.	.	.	.	.	.	0.11319095	0.21256	T	.	.	.	.	.	.	.	.	.	0.23099261919374284	0.23014	.	.	.	.	.	0.045885	0.27258	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.694	0.00717	T	.	.	0.316	0.54183	B	.	.	0.669962	0.10384	7.109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.009000	0.29487	-0.836000	0.07236	0.349000	0.19912	0.000000	0.06391	0.000000	0.08366	0.074000	0.16894	.	.	.	.	.	WxxW domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	908.98	135	chr11	1183397	.	A	C	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=3024;ExcessHet=0.0000;FS=39.179;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.59;MQRankSum=-1.137e+01;QD=2.94;ReadPosRankSum=-4.930e-01;SOR=2.657	GT:AD:DP:GQ:PL	0/1:253,56:309:99:923,0,7017	20	0	1	0
chr11	1630194	1630223	CTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	-	exonic	KRTAP5-5	.	nonframeshift deletion	KRTAP5-5:NM_001001480:exon1:c.354_383del:p.C142_Y218delinsYGCSQSSCCKPCCCSSGCGSSCCQSSCCKPYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCCCQSSCCVPVCCQCKI*,	.	.	452	1018	30	9	13	61	0.0230326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2243.01	34	chr11	1630163	.	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG,C	2243.01	.	AC=6,2;AF=0.150,0.050;AN=40;BaseQRankSum=0.830;DP=1501;ExcessHet=0.0002;FS=4.867;InbreedingCoeff=0.6313;MLEAC=6,2;MLEAF=0.150,0.050;MQ=59.40;MQRankSum=-1.210e+00;QD=30.31;ReadPosRankSum=0.389;SOR=0.228	GT:AD:DP:GQ:PL	0/2:10,0,5:15:99:223,253,666,0,414,360	15	3	0	1
chr11	1630164	1630223	CTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	-	exonic	KRTAP5-5	.	nonframeshift deletion	KRTAP5-5:NM_001001480:exon1:c.324_383del:p.C132_Y218delinsYGCSQSSCCKPCCCSSGCGSSCCQSSCCKPYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCCCQSSCCVPVCCQCKI*,	.	.	452	1018	30	9	13	61	0.0230326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.621e-06	0	0	0	0	1.564e-05	0	0	.	.	.	.	0.0025	0.0025	0.0023	0.0027	0.0078	0.0024	0.0024	0.0070	0.0067	0.0078	0.0033	0.0093	0.0001	0.0010	0.0059	0.0020	0.0044	0.0048	0.0009	0.0043	0.0009	0.0008	0.0016	0.0007	0.0006	0.0012	0.0010	0.0016	0	0.0003	0.0020	0	0	0.0085	0.0006	0.0030	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2243.01	34	chr11	1630163	.	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG,C	2243.01	.	AC=6,2;AF=0.150,0.050;AN=40;BaseQRankSum=0.830;DP=1501;ExcessHet=0.0002;FS=4.867;InbreedingCoeff=0.6313;MLEAC=6,2;MLEAF=0.150,0.050;MQ=59.40;MQRankSum=-1.210e+00;QD=30.31;ReadPosRankSum=0.389;SOR=0.228	GT:AD:DP:GQ:PL	0/2:10,0,5:15:99:223,253,666,0,414,360	15	3	0	1
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	48108.27	39	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T,*	48108.27	.	AC=16,11;AF=0.381,0.262;AN=42;BaseQRankSum=-2.940e-01;DP=3975;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=16,11;MLEAF=0.381,0.262;MQ=58.70;MQRankSum=-5.308e+00;QD=15.77;ReadPosRankSum=0.914;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:130,104,0:234:99:.:.:3399,0,4632,3790,4957,8747	3	3	5	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T,	.	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.0	B	.	.	1.000	P	0.145	N	2.52	T	-0.993	T	0.000	T	0.03	0.270	5.460	-6.48	-3.533	-1.103	3.030	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.09524	11120.92	197	chr11	1956322	.	G	A	11120.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.153e+00;DP=1450;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=0.475;SOR=0.694	GT:AD:DP:GQ:PL	0/1:99,110:209:99:2679,0,2423	17	0	4	0
chr11	1956368	1956460	GGCAGAGCAGCGACCCGCGGCGGGGCGGCGTCCCCAGCTGGTTCGGGCTGTGACGGGGTGGCCAGCAGGGACGCGCCCCAGGTGGGCAGCTGT	-	exonic	MRPL23	.	stoploss	MRPL23:NM_021134:exon5:c.410_502del:p.V147_L153delinsIPSWFGP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.372e-05	0	0	0	0	4.626e-05	0	6.078e-05	.	.	.	.	3.194e-05	6.029e-05	3.028e-05	3.363e-05	0.0002	2.421e-05	2.156e-05	0.0001	9.108e-05	3.092e-05	5.506e-05	0	0	0	0	2.25e-05	5.287e-05	0.0002	0.0001	0.0002	0.0002	7.457e-05	0.0002	9.463e-05	7.904e-05	9.728e-05	7.508e-05	0.0001	0	0.0002	0	0	0.0002	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1098.94	65	chr11	1956367	.	AGGCAGAGCAGCGACCCGCGGCGGGGCGGCGTCCCCAGCTGGTTCGGGCTGTGACGGGGTGGCCAGCAGGGACGCGCCCCAGGTGGGCAGCTGT	A	1098.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.017;DP=929;ExcessHet=0.0000;FS=3.275;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.14;ReadPosRankSum=-6.149e+00;SOR=0.433	GT:AD:DP:GQ:PL	0/1:49,105:154:99:1113,0,1657	20	0	1	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.72	H	6.65	T	-1.162	T	0.013	T	0.859	0.989	9.038	2.16	0.307	0.075	8.371	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3438	1921.6	129	chr11	5351792	.	C	G	1921.6	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.528e+00;DP=3508;ExcessHet=7.7275;FS=256.706;InbreedingCoeff=-0.4658;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.281;SOR=11.086	GT:AD:DP:GQ:PL	0/1:148,28:176:7:7,0,4928	5	0	11	5
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.689	P	0.034	N	0.570	D	4.255	H	-0.08	T	0.418	D	0.499	T	0.685	1.906	12.33	3.23	0.271	3.583	13.827	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1980.01	154	chr11	6200107	.	C	G	1980.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.829e+00;DP=2478;ExcessHet=4.7172;FS=120.687;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.23;ReadPosRankSum=1.61;SOR=11.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,28:205:99:0|1:6200107_C_G:168,0,6915:6200107	12	0	9	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.911	P	0.158	B	0.004	N	0.906	D	1.675	L	1.07	T	-0.977	T	0.081	T	0.099	1.942	12.45	5.11	2.518	-0.072	13.517	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2170.01	155	chr11	6200109	.	C	G	2170.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.569e+00;DP=2452;ExcessHet=4.7172;FS=131.986;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=1.54;SOR=11.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,28:205:99:0|1:6200107_C_G:168,0,6915:6200107	12	0	9	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,44,43,0,0,0:87:99:.:.:2806,1724,2053,1165,0,1494,2933,2162,1617,3766,2933,2162,1617,3766,3766,2933,2162,1617,3766,3766,3766	0	5	0	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	66	5	343	388	720	1839	0.991143	.	.	526543	not_specified|not_provided|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,44,43,0,0,0:87:99:.:.:2806,1724,2053,1165,0,1494,2933,2162,1617,3766,2933,2162,1617,3766,3766,2933,2162,1617,3766,3766,3766	0	5	0	0
chr11	10559867	10559867	G	C	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731G:p.A244G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	2.62	T	-0.348	T	0.350	T	0.535	4.797	27.1	5.44	2.570	5.738	18.043	0.279	0.035680634441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	0.0001	0.0001	0.0001	9.22e-05	8.745e-05	0.0001	0.0001	3.018e-05	0	3.84e-05	0	0	0	0.0001	8.361e-05	3.493e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999976	0.53665	D	1.995	0.54099	M	2.62	0.57100	T	-2.2	0.74051	N	0.656	0.78072	-0.3484	0.73600	T	0.350	0.71439	T	10	0.7359656	0.74622	D	0.035681	0.56501	D	0.279	0.59619	0.486	0.56939	0.740229456086	0.73790	0.4308752596838396	0.43004	0.43936280621	0.43965	0.555330634117	0.46608	T	0.738373	0.92733	D	0.027231	0.55354	T	-0.198661	0.54773	T	0.952442526817322	0.63793	D	0.80142	0.48765	T	0.3713057	0.58681	0.47502097	0.69577	0.3713057	0.58681	0.47502097	0.69577	-3.975	0.23428	T	.	.	0.29	0.61572	B	.;.	.;.	4.798394	0.77943	26.8	0.99798832104841995	0.88372	0.95259	0.64030	D	AEFI	0.868902	0.78922	D	0.791556132315038	0.85574	8.616862	0.766818552650126	0.87408	9.211633	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2333	480.78	80	chr11	10559867	.	G	C,A	480.78	.	AC=1,6;AF=0.033,0.200;AN=30;BaseQRankSum=-3.132e+00;DP=2242;ExcessHet=2.5830;FS=198.804;InbreedingCoeff=-0.3113;MLEAC=1,7;MLEAF=0.033,0.233;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.321;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:85,0,36:121:99:.:.:124,361,2046,0,1685,1591	8	0	1	6
chr11	10559867	10559867	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731T:p.A244V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	2.74	T	-0.451	T	0.344	T	0.724	4.500	24.2	5.44	2.570	5.738	18.043	0.222	0.0316624712336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011426411	1.382e-05	1.372e-05	1.79e-05	9.716e-06	0.0009	9.03e-06	7.34e-06	0.0003	0.0002	3.015e-05	0	0	0	0	0.0009	1.184e-05	0	1.164e-05	1.322e-05	1.316e-05	1.291e-05	1.354e-05	1.473e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.473e-05	0	0	0.116	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.995	0.54099	M	2.74	0.57100	T	-1.72	0.74051	N	0.743	0.83371	-0.4509	0.70370	T	0.344	0.70940	T	10	0.7525157	0.75742	D	0.031662	0.53686	D	0.222	0.51872	0.383	0.40134	0.752590173691	0.75035	0.5316431793870309	0.53089	0.438298358417	0.43869	0.586091697216	0.50943	T	0.380784	0.74325	T	0.128026	0.67169	D	-0.0538753	0.66757	D	0.953589856624603	0.64061	D	0.849515	0.57326	T	0.22611228	0.45285	0.23588851	0.48845	0.22611228	0.45285	0.23588851	0.48844	-4.267	0.27712	T	.	.	0.576	0.75037	P	.;.	.;.	4.864352	0.79626	27.1	0.99869083234187406	0.94726	0.94107	0.60133	D	AEFI	0.863055	0.78149	D	0.767749876461228	0.84054	8.182144	0.746411232723111	0.85890	8.717017	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2333	480.78	80	chr11	10559867	.	G	C,A	480.78	.	AC=1,6;AF=0.033,0.200;AN=30;BaseQRankSum=-3.132e+00;DP=2242;ExcessHet=2.5830;FS=198.804;InbreedingCoeff=-0.3113;MLEAC=1,7;MLEAF=0.033,0.233;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.321;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:85,0,36:121:99:.:.:124,361,2046,0,1685,1591	8	0	1	6
chr11	10853306	10853306	C	T	exonic	ZBED5	.	nonsynonymous SNV	ZBED5:NM_001143667:exon3:c.G1640A:p.S547N	.	.	435	1018	63	6	0	75	0.0355282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.838	P	0.429	B	.	.	0.966	N	0.995	L	2.07	T	-1.104	T	0.030	T	0.166	0.971	8.963	3.88	2.451	0.840	11.645	0.051	.	0.0018	0.00359425	0.0089	0.0024	0.0027	0	0	0.0033	0.0102	0.0179	0.0018693	289	154602	rs149344014	0.0040	0.0039	0.0036	0.0045	0.0253	0.0040	0.0039	0.0219	0.0206	0.0005	0.0048	0.0039	0	0.0006	0.0253	0.0034	0.0049	0.0163	0.0031	0.0031	0.0027	0.0036	0.0180	0.0029	0.0028	0.0150	0.0138	0.0006	0.0175	0.0052	0.0026	0.0002	0.0007	0.0170	0.0034	0.0061	0.0180	0.297	0.14645	T	0.275	0.22016	T	0.838	0.46404	P	0.429	0.45365	B	.	.	.	.	0.965601	0.25931	N	1.195	0.30194	L	2.07	0.20387	T	-0.25	0.11008	N	0.132	0.12770	-1.1044	0.03598	T	0.030	0.13067	T	9	0.005743891	0.00128	T	.	.	.	0.051	0.14325	.	.	0.152612264143	0.14878	0.3926522387171367	0.39180	.	.	0.546009838581	0.45294	T	0.011072	0.09929	T	-0.545125	0.00312	T	-0.542837	0.18018	T	0.0192128586043698	0.00628	T	0.316468	0.06291	T	0.099952675	0.23594	0.09674408	0.23000	0.099952675	0.23594	0.09674408	0.22999	-3.472	0.16042	T	.	.	0.097	0.15698	B	.;.	.;.	1.524214	0.19565	14.33	0.9633974236410533	0.29476	0.70214	0.34498	D	AEFBI	0.081199	0.16429	N	0.0833933956385252	0.45690	2.821236	0.136925729028954	0.46454	2.891047	0.999998665454906	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.88	3.88	0.43959	0.847000	0.27348	1.032000	0.23488	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	11.645	0.50517	587	0.69154	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3935.11	92	chr11	10853306	.	C	T	3935.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.03;DP=970;ExcessHet=0.1072;FS=2.713;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.08;ReadPosRankSum=0.759;SOR=0.621	GT:AD:DP:GQ:PL	0/1:51,66:117:99:1762,0,1481	19	0	2	0
chr11	12294806	12294806	-	CTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTC:p.P470_T471insP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	3/6:0,0,0,40,0,2,43:85:99:.:.:3409,3440,3778,3440,3778,3778,1787,1809,1809,1670,3440,3778,3778,1809,3778,3311,3650,3650,1681,3650,3741,1630,1968,1968,0,1968,1896,1835	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTC:p.P470_T471insPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	3/6:0,0,0,40,0,2,43:85:99:.:.:3409,3440,3778,3440,3778,3778,1787,1809,1809,1670,3440,3778,3778,1809,3778,3311,3650,3650,1681,3650,3741,1630,1968,1968,0,1968,1896,1835	6	0	4	0
chr11	12294806	12294806	-	CTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTC:p.P470_T471insPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	3/6:0,0,0,40,0,2,43:85:99:.:.:3409,3440,3778,3440,3778,3778,1787,1809,1809,1670,3440,3778,3778,1809,3778,3311,3650,3650,1681,3650,3741,1630,1968,1968,0,1968,1896,1835	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTCCTC:p.P470_T471insPPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	3/6:0,0,0,40,0,2,43:85:99:.:.:3409,3440,3778,3440,3778,3778,1787,1809,1809,1670,3440,3778,3778,1809,3778,3311,3650,3650,1681,3650,3741,1630,1968,1968,0,1968,1896,1835	6	0	4	0
chr11	12294798	12294806	CTCCTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1367_1375del:p.P468_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140	.	0.0027	0.0050	0.0026	0.0015	0.0007	0.0029	0.0042	0.0020	0.0005379	14	26028	rs761605598	0.0069	0.0073	0.0069	0.0069	0.0141	0.0068	0.0067	0.0130	0.0126	0.0141	0.0080	0.0114	0.0007	0.0005	0.0089	0.0070	0.0088	0.0060	0.0111	0.0096	0.0115	0.0106	0.0238	0.0106	0.0104	0.0222	0.0215	0.0238	0	0.0146	0.0137	0.0013	0.0009	0.0324	0.0073	0.0091	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	3/6:0,0,0,40,0,2,43:85:99:.:.:3409,3440,3778,3440,3778,3778,1787,1809,1809,1670,3440,3778,3778,1809,3778,3311,3650,3650,1681,3650,3741,1630,1968,1968,0,1968,1896,1835	6	0	4	0
chr11	12294801	12294806	CTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1370_1375del:p.P469_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	3/6:0,0,0,40,0,2,43:85:99:.:.:3409,3440,3778,3440,3778,3778,1787,1809,1809,1670,3440,3778,3778,1809,3778,3311,3650,3650,1681,3650,3741,1630,1968,1968,0,1968,1896,1835	6	0	4	0
chr11	18173456	18173456	A	G	exonic	MRGPRX4	.	nonsynonymous SNV	MRGPRX4:NM_054032:exon1:c.A200G:p.N67S,	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.986	D	0.913	D	0.000	D	0.840	N	1.78	L	3.02	T	-1.144	T	0.045	T	0.395	3.538	18.06	2.95	1.364	2.907	9.289	0.211	0.00190245605865	.	.	0.0002	0	0	0	0	4.496e-05	0	0.0015	0.0001876	29	154602	rs747743643	0.0001	0.0001	8.303e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	5.974e-05	4.472e-05	3.826e-05	5.038e-05	0	0.0005	3.597e-05	0.0002	0.0014	3.946e-05	4.598e-05	1.286e-05	6.734e-05	0.0006	1.717e-05	1.13e-05	0.0002	9.036e-05	2.417e-05	0	0	0	0	0	0	2.941e-05	0	0.0006	0.105	0.29823	T	0.036	0.52060	D	0.986	0.61523	D	0.913	0.64886	D	0.000434	0.44522	D	0.157768	0.84047	0.28637	N	2.72	0.79541	M	3.02	0.08986	T	-4.71	0.79915	D	0.381	0.42247	-1.1438	0.01222	T	0.045	0.19478	T	10	0.13986102	0.26589	T	0.001902	0.03351	T	0.211	0.50185	0.659	0.79689	0.557167593849	0.55376	0.41473580008732486	0.41389	0.547654276745	0.51731	0.28593981266	0.08334	T	0.030	0.21607	T	-0.447184	0.01173	T	-0.455659	0.27072	T	0.8370161652565	0.49085	D	0.789321	0.42944	T	0.44402578	0.63661	0.3685553	0.62142	0.44402578	0.63662	0.3685553	0.62142	-7.445	0.57222	T	.	.	0.169	0.37159	B	.	.	2.910177	0.38601	20.8	0.99746118524729044	0.83852	0.76535	0.37544	D	AEFGBHCI	0.230065	0.35349	N	0.219707657916073	0.52157	3.391507	0.0918020980795939	0.44134	2.701187	0.981396938995584	0.30257	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.95	2.95	0.33285	4.457000	0.59826	0.075000	0.14313	0.632000	0.51917	1.000000	0.71638	0.000000	0.08366	0.027000	0.12703	1.0:0.0:0.0:0.0	9.289	0.36938	840	0.37365	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3139.98	173	chr11	18173456	.	A	G	3139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=3198;ExcessHet=0.0000;FS=0.498;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=-2.019e+00;SOR=0.647	GT:AD:DP:GQ:PL	0/1:107,111:218:99:3154,0,2957	20	0	1	0
chr11	31789914	31789915	TT	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729_730del:p.K244Gfs*7	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/3:18,4,10,17:49:74:311,250,1036,74,598,518,0,237,116,200	0	0	0	0
chr11	31789915	31789915	T	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729delA:p.K244Rfs*29	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/3:18,4,10,17:49:74:311,250,1036,74,598,518,0,237,116,200	0	0	0	0
chr11	33085948	33085948	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1837T:p.P613S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.991	D	0.962	D	0.000	D	1.000	D	1.845	L	.	.	-0.421	T	0.412	T	0.57	4.701	26.1	6.17	2.941	9.675	20.879	0.385	0.018622287866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.455e-06	1.231e-05	1.432e-06	1.48e-06	1.865e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.865e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.0	0.92824	D	0.991	0.64070	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	.	.	.	-6.31	0.90812	D	0.525	0.55453	-0.4215	0.71343	T	0.412	0.75992	T	8	0.9084526	0.90210	D	0.018622	0.40743	T	0.385	0.70194	0.826	0.93721	0.511911713033	0.50833	0.885045201905812	0.88473	2.47938944519	0.97530	0.844974219799	0.88853	D	0.520901	0.83243	D	0.10266	0.64579	D	-0.0903126	0.64138	T	0.99573141336441	0.87972	D	0.960904	0.86380	D	0.54860973	0.69878	0.59958357	0.76740	0.54860973	0.69879	0.59958357	0.76741	-5.785	0.44443	T	.	.	0.983	0.91815	P	.;.	.;.	5.094266	0.85087	28.5	0.99882518470572146	0.95813	0.99420	0.95802	D	AEFBI	0.878547	0.80389	D	0.859076414803033	0.89619	10.04646	0.8834401244028	0.94808	13.06098	0.999999999990392	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	20.879	0.99870	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05882	64.55	62	chr11	33085948	.	G	A	64.55	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-2.399e+00;DP=1259;ExcessHet=0.1072;FS=70.487;InbreedingCoeff=-0.1161;MLEAC=2;MLEAF=0.059;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=1.13;SOR=5.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,7:64:17:0|1:33085948_G_A:17,0,2071:33085948	15	0	2	4
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	P	0.828	P	0.000	D	1.000	D	2.615	M	.	.	-0.107	T	0.505	D	0.656	5.013	29.5	6.03	2.861	9.675	20.557	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4167	1267.41	50	chr11	33085953	.	G	A	1267.41	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.118e+00;DP=1212;ExcessHet=1.1607;FS=252.446;InbreedingCoeff=-0.4237;MLEAC=9;MLEAF=0.750;MQ=60.00;MQRankSum=0.00;QD=3.22;ReadPosRankSum=1.37;SOR=9.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,8:61:45:0|1:33085948_G_A:45,0,1996:33085948	1	0	5	15
chr11	45227698	45227698	G	T	exonic	PRDM11	.	nonsynonymous SNV	PRDM11:NM_001256695:exon8:c.G3073T:p.D1025Y	.	.	519	999	4	0	0	4	0.001998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0020	0	0.0106	0	0	0	0	0.0030	0.0001811	28	154602	rs529964583	0.0002	0.0002	9.287e-05	0.0002	0.0027	0.0001	0.0001	0.0024	0.0023	0	0	0	2.798e-05	0	0.0002	5.562e-06	0.0001	0.0027	4.595e-05	4.593e-05	1.284e-05	8.056e-05	0.0015	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	.	.	.	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.34120	.	.	.	.	.	.	.	0.0049298406	0.00106	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.5971764889992983	0.59648	.	.	0.532500743866	0.43387	T	0.029818	0.21277	T	-0.241431	0.15166	T	-0.124502	0.61430	T	.	.	.	0.944206	0.78893	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.47492	B	.	.	4.017301	0.59304	24.1	0.86124804256850196	0.16329	0.98999	0.89757	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999972694	0.74766	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.117559	0.03655	0	0.983155	0.89785	5.73	5.73	0.89730	9.305000	0.95277	11.820000	0.97208	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:0.0:1.0:0.0	19.898	0.96972	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1833.98	84	chr11	45227698	.	G	T	1833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.374e+00;DP=2033;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=0.115;SOR=0.682	GT:AD:DP:GQ:PL	0/1:58,70:128:99:1848,0,1530	20	0	1	0
chr11	45971283	45971283	C	G	exonic	PHF21A	.	nonsynonymous SNV	PHF21A:NM_001101802:exon7:c.G445C:p.V149L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.782	P	0.255	B	0.000	D	1.000	D	1.7	L	-3.37	D	0.524	D	0.782	D	0.649	4.687	25.9	5.79	2.746	3.957	20.031	0.454	0.0775601202395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.672	0.06511	T	0.782	0.44333	P	0.255	0.39216	B	0.000000	0.84330	D	0.053910	0.999964	0.52935	D	1.995	0.54099	M	-3.86	0.95891	D	-0.69	0.19720	N	0.551	0.58031	0.524	0.90886	D	0.782	0.92582	D	10	0.43233973	0.57572	T	0.07756	0.72799	D	0.454	0.75347	0.202	0.11659	0.821397785811	0.81971	0.599171980748204	0.59848	0.953944116994	0.72743	0.801040589809	0.82121	T	0.088279	0.38124	T	0.258844	0.79421	D	0.134035	0.79155	D	0.642412309140843	0.38139	D	0.973903	0.90628	D	0.24376908	0.47318	0.29754263	0.55787	0.24376908	0.47318	0.29754263	0.55786	-7.504	0.57638	D	0.23226634951649536	0.31436	0.197	0.41903	B	.;.	.;.	4.929401	0.81258	27.5	0.99745650985518786	0.83852	0.95941	0.66818	D	AEFDGBI	0.522502	0.54649	D	0.264576081778261	0.54364	3.602125	0.382443559752812	0.60484	4.236358	0.999999816746384	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	4.055000	0.57153	7.715000	0.67011	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.031	0.97539	175	0.93230	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1688.98	34	chr11	45971283	.	C	G	1688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.961e+00;DP=836;ExcessHet=0.0000;FS=2.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=0.175;SOR=0.471	GT:AD:DP:GQ:PL	0/1:45,70:115:99:1703,0,1172	20	0	1	0
chr11	47590314	47590314	G	C	exonic	C1QTNF4	.	nonsynonymous SNV	C1QTNF4:NM_031909:exon2:c.C497G:p.A166G,	.	.	.	.	.	.	.	.	.	.	.	3295043	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.51	T	0.003	B	0.002	B	0.231	U	1.000	N	0.69	N	-0.92	T	-0.912	T	0.213	T	0.074	1.827	12.07	2.26	2.086	0.163	4.517	0.160	0.742979258326	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420864182	7.351e-05	7.456e-05	5.167e-05	9.739e-05	0.0019	5.998e-05	5.552e-05	0.0015	0.0014	0	0	0	0	0	0	7.685e-06	7.262e-05	0.0019	4.756e-05	4.616e-05	0	9.763e-05	0.0015	2.174e-05	1.568e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.39	0.10838	T	0.462	0.12526	T	0.003	0.11197	B	0.002	0.06944	B	0.231044	0.03518	U	1.678960	1	0.08975	N	-1.1	0.00987	N	-0.92	0.75108	T	0.07	0.06138	N	0.086	0.06322	-0.9117	0.46645	T	0.213	0.57347	T	10	0.05299875	0.05421	T	0.742979	0.97943	D	0.160	0.41473	0.216	0.13643	0.295226631146	0.29124	0.14810612609150253	0.14732	.	.	0.86514878273	0.91868	D	0.002708	0.02096	T	-0.198256	0.21058	T	-0.522557	0.20036	T	0.202073007822037	0.20529	T	.	.	.	0.06930487	0.15172	0.05433896	0.09326	0.06930487	0.15172	0.05433896	0.09326	-3.255	0.13164	T	.	.	0.059	0.00806	B	.	.	1.807574	0.22973	15.84	0.95934469152264401	0.28225	0.09035	0.14870	N	AEFDBCIJ	.	.	.	-0.59610506282356	0.19063	0.9947376	-0.484176332393736	0.22589	1.227666	0.999971262869227	0.50053	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.603991	0.37454	0	.	.	4.32	2.26	0.27418	0.149000	0.16062	1.930000	0.29765	0.555000	0.28237	0.000000	0.06391	0.395000	0.24683	0.997000	0.79791	0.2321:0.2052:0.5627:0.0	4.517	0.11347	10	0.99061	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	420.12	13	chr11	47590314	.	G	C	420.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.560;DP=427;ExcessHet=0.1072;FS=1.744;InbreedingCoeff=-0.0505;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=0.489;SOR=0.324	GT:AD:DP:GQ:PL	0/1:4,8:12:80:228,0,80	19	0	2	0
chr11	47622717	47622717	C	T	exonic	MTCH2	.	nonsynonymous SNV	MTCH2:NM_001317232:exon11:c.G782A:p.C261Y	.	.	427	1056	37	2	0	41	0.0190432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.828	P	0.37	B	0.001	N	0.575	N	0.345	N	-1.09	T	-0.430	T	0.256	T	0.379	2.935	15.78	4.9	1.464	0.755	11.970	0.260	.	0.0014	0.00459265	0.0039	0.0003	0.0010	0	0.0003	0.0021	0.0033	0.0191	0.0033829	523	154602	rs146359770	0.0021	0.0022	0.0016	0.0027	0.0177	0.0021	0.0020	0.0170	0.0167	0.0004	0.0012	0.0049	5.09e-05	0.0005	0.0111	0.0010	0.0034	0.0177	0.0018	0.0018	0.0015	0.0020	0.0195	0.0016	0.0015	0.0163	0.0151	0.0002	0	0.0014	0.0066	0.0002	0.0006	0.0034	0.0016	0.0014	0.0195	0.068	0.35726	T	0.068	0.44106	T	0.828	0.46021	P	0.37	0.43538	B	0.001328	0.39379	N	0.316263	0.645907	0.31150	N	0.755	0.19153	N	-1.09	0.77206	T	-0.97	0.29323	N	0.391	0.43223	-0.4300	0.71067	T	0.256	0.62654	T	10	0.0061473846	0.00138	T	.	.	.	0.260	0.57221	.	.	0.812756828345	0.81100	0.7391066366388342	0.73855	0.383605318214	0.39684	0.47454893589	0.35307	T	0.002147	0.08397	T	-0.332788	0.05903	T	-0.236523	0.51137	T	0.0115689649188101	0.00175	T	.	.	.	0.106424846	0.25164	0.11889497	0.28699	0.106424846	0.25164	0.11889497	0.28699	-3.777	0.20461	T	.	.	0.074	0.24260	B	.;.	.;.	2.579658	0.33447	19.34	0.98582890088756236	0.43271	0.85861	0.45043	D	AEFBI	0.609948	0.59896	D	0.0688766069965475	0.45016	2.765244	0.169932464157825	0.48207	3.039841	0.127170478720994	0.17014	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	4.9	0.63643	1.614000	0.36522	0.569000	0.19588	0.599000	0.40250	1.000000	0.71638	0.995000	0.32472	0.989000	0.64315	0.0:0.919:0.0:0.081	11.970	0.52349	10	0.99061	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	479.98	33	chr11	47622717	.	C	T	479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.021;DP=904;ExcessHet=0.0000;FS=1.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.53;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-9.440e-01;SOR=0.399	GT:AD:DP:GQ:PL	0/1:15,22:37:99:494,0,299	20	0	1	0
chr11	47660194	47660194	C	G	exonic	AGBL2	.	nonsynonymous SNV	AGBL2:NM_024783:exon19:c.G2688C:p.L896F,	.	.	.	.	.	.	.	.	.	.	.	3250287	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.779	P	0.197	B	0.006	N	1.000	N	1.6	L	2.58	T	-1.027	T	0.022	T	0.258	2.515	14.37	0.485	0.314	0.084	3.372	0.023	0.00574626851004	.	0.000199681	0.0002	0	8.642e-05	0	0	0	0.0011	0.0014	0.0001682	26	154602	rs537747035	0.0001	0.0001	5.718e-05	0.0002	0.0017	9.335e-05	8.818e-05	0.0015	0.0014	0	4.474e-05	0	0	0	0	1.799e-06	9.937e-05	0.0017	4.596e-05	4.593e-05	0	9.401e-05	0.0014	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.0	0.91255	D	0.076	0.42976	T	0.779	0.44223	P	0.197	0.36707	B	0.006422	0.32040	N	0.000000	0.985213	0.24731	N	1.1	0.28011	L	2.58	0.13434	T	-0.7	0.19933	N	0.197	0.21710	-1.0270	0.21429	T	0.022	0.09330	T	10	0.020067245	0.00456	T	0.005746	0.14892	T	0.023	0.04649	0.24	0.17218	0.176091768786	0.17195	0.11659715920635105	0.11587	0.558280205914	0.52413	0.470350921154	0.34729	T	0.008967	0.08195	T	-0.517038	0.00458	T	-0.540093	0.18287	T	0.185677837903577	0.19586	T	.	.	.	0.1732652	0.38065	0.14537123	0.34480	0.1732652	0.38065	0.14537123	0.34479	-4.162	0.26199	T	.	.	0.106	0.46458	B	.;.	.;.	2.335829	0.29927	18.28	0.98669463717687977	0.44456	0.75015	0.36712	D	AEFGI	0.129927	0.24828	N	-0.250904323778815	0.31068	1.738395	-0.291110651619026	0.28390	1.582625	0.00273276606693919	0.09669	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.79	0.485	0.16040	0.087000	0.14801	0.575000	0.19646	0.549000	0.26987	0.994000	0.38300	0.998000	0.33993	0.924000	0.46004	0.3593:0.4456:0.0:0.1952	3.372	0.06802	10	0.99061	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1377.11	33	chr11	47660194	.	C	G	1377.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.940e-01;DP=740;ExcessHet=0.1072;FS=5.181;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=1.75;SOR=0.347	GT:AD:DP:GQ:PL	0/1:24,38:62:99:945,0,628	19	0	2	0
chr11	56319187	56319187	A	C	exonic	OR8K3	.	nonsynonymous SNV	OR8K3:NM_001005202:exon1:c.A881C:p.K294T,	.	.	.	.	.	.	.	.	.	.	.	3363838	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.216	B	0.191	B	0.008	N	0.917	N	2.375	M	0.9	T	-0.837	T	0.148	T	0.391	0.813	8.271	4.18	1.888	2.595	12.487	0.162	0.00601464091088	.	.	0.0002	0	8.794e-05	0	0	0	0.0011	0.0012	0.0001423	22	154602	rs772916448	9.378e-05	9.508e-05	4.495e-05	0.0001	0.0015	8.097e-05	7.589e-05	0.0013	0.0012	0	4.474e-05	0	0	0	0.0002	1.8e-06	9.939e-05	0.0015	2.628e-05	2.627e-05	0	5.378e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	0.216	0.30161	B	0.191	0.36391	B	0.008122	0.31003	N	0.226639	0.917463	0.27371	N	2.16	0.60381	M	.	.	.	.	.	.	.	.	-0.8370	0.52845	T	0.148	0.47433	T	10	0.031024039	0.01233	T	0.006015	0.15698	T	.	.	0.418	0.45873	.	.	0.13748112576444046	0.13672	.	.	0.19005921483	0.00226	T	0.019516	0.15537	T	-0.420749	0.01691	T	-0.412532	0.31934	T	0.174693159218916	0.18894	T	0.630437	0.24556	T	0.36264455	0.58037	0.39485955	0.64169	0.36264455	0.58037	0.39485955	0.64169	-6.629	0.51274	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	3.200658	0.43526	21.7	0.98987641963286221	0.49861	0.92765	0.56491	D	AEFBI	0.248175	0.36862	N	-0.0627516097519068	0.39034	2.295548	-0.0468265495142603	0.37628	2.205737	1.33589702258011E-4	0.05486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	4.18	0.48473	1.782000	0.38284	.	.	0.672000	0.70159	0.623000	0.27939	0.007000	0.19602	0.250000	0.23263	1.0:0.0:0.0:0.0	12.487	0.55220	189	0.92630	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2222.11	37	chr11	56319187	.	A	C	2222.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.990;DP=931;ExcessHet=0.1072;FS=3.338;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=1.48;SOR=0.944	GT:AD:DP:GQ:PL	0/1:50,39:89:99:995,0,1285	19	0	2	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	653.59	237	chr11	56375950	.	A	G,*	653.59	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=5.82;DP=5436;ExcessHet=36.0830;FS=3.202;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=-1.131e+00;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:216,27,26:269:25:.:.:695,25,8941,0,8093,8969	2	0	2	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	440.62	237	chr11	56375951	.	T	G,*	440.62	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.55;DP=5427;ExcessHet=36.0830;FS=3.220;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.09;ReadPosRankSum=-1.200e+00;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:216,27,23:266:72:.:.:652,0,8922,72,8165,9009	1	0	3	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	822.68	237	chr11	56375953	.	A	T,*	822.68	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.15;DP=5417;ExcessHet=36.0830;FS=3.217;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=-4.650e-01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:216,27,22:265:99:.:.:747,0,8914,113,8194,9023	1	0	3	1
chr11	58267476	58267476	G	A	exonic	OR10W1	.	nonsynonymous SNV	OR10W1:NM_207374:exon1:c.C383T:p.T128I,	.	.	427	1079	13	3	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.981	D	0.708	P	0.003	N	0.918	N	2.945	M	6.78	T	-1.056	T	0.004	T	0.416	2.646	14.81	3.81	1.434	0.879	9.591	0.098	.	0.0002	0.0183706	0.0107	0.0002	0.0008	0.0004	0	3.025e-05	0.0101	0.0769	0.0091719	1418	154602	rs200833145	0.0047	0.0047	0.0024	0.0069	0.0751	0.0046	0.0045	0.0736	0.0729	0.0002	6.712e-05	0	5.045e-05	0	0.0035	2.608e-05	0.0046	0.0751	0.0026	0.0026	0.0013	0.0039	0.0766	0.0023	0.0023	0.0701	0.0676	0.0003	0	6.532e-05	0	0.0004	0	0	4.409e-05	0.0009	0.0766	0.005	0.63226	D	0.016	0.60972	D	0.981	0.59675	D	0.708	0.54437	P	0.002641	0.36208	N	0.125321	0.917861	0.27362	N	2.945	0.84822	M	6.78	0.00490	T	-4.25	0.76094	D	0.297	0.33578	-1.0559	0.12803	T	0.004	0.01400	T	10	0.002395302	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.49150466261061965	0.49071	0.174593514633	0.19662	0.302266150713	0.10739	T	0.028591	0.20678	T	-0.501515	0.00561	T	-0.435641	0.29297	T	0.0913901125791992	0.11382	T	0.732227	0.34774	T	0.5716251	0.71150	0.54522276	0.73712	0.5716251	0.71151	0.54522276	0.73713	-8.308	0.63149	D	.	.	0.296	0.52696	B	.	.	3.101195	0.41791	21.4	0.99827754227103138	0.91026	0.90528	0.51778	D	AEFGI	0.273053	0.38855	N	0.286629345381957	0.55468	3.711056	0.159904920510697	0.47669	2.993664	1.71151944038902E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	3.81	0.43020	1.637000	0.36769	3.840000	0.40037	0.676000	0.76740	0.556000	0.27393	1.000000	0.68203	0.533000	0.29776	0.0:0.1371:0.5803:0.2827	9.591	0.38708	285	0.88719	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	0.04762	5181.11	179	chr11	58267476	.	G	A	5181.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.982;DP=1114;ExcessHet=0.1072;FS=0.373;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=0.513;SOR=0.720	GT:AD:DP:GQ:PL	0/1:93,101:194:99:2723,0,2593	19	0	2	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.984	D	0.956	D	0.000	D	1.000	D	1.895	L	1.75	T	-0.929	T	0.147	T	0.816	4.674	25.8	4.41	2.173	9.720	17.371	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	7460.77	117	chr11	61740527	.	G	C	7460.77	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.620e+00;DP=2290;ExcessHet=20.9642;FS=238.697;InbreedingCoeff=-0.6474;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=0.887;SOR=12.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,30:108:57:.:.:57,0,1312	4	0	16	1
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.948	P	0.588	P	0.000	D	1.000	D	1.5	L	1.82	T	-1.071	T	0.080	T	0.919	3.976	20.4	4.41	1.764	6.186	13.945	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11271.74	121	chr11	61740531	.	T	C	11271.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.350e+00;DP=2360;ExcessHet=54.0936;FS=275.616;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.98;ReadPosRankSum=0.649;SOR=13.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,41:120:99:.:.:323,0,1355	0	0	21	0
chr11	62130014	62130014	T	C	exonic	INCENP	.	nonsynonymous SNV	INCENP:NM_001040694:exon4:c.T487C:p.C163R	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.936	P	0.206	B	0.588	U	1.000	N	1.1	L	2.58	T	-0.985	T	0.028	T	0.271	1.056	9.314	-6.25	-0.962	-3.110	2.873	0.055	.	.	0.00299521	0.0020	0	8.649e-05	0.0001	0	0	0.0011	0.0145	0.0016947	262	154602	rs200221164	0.0009	0.0009	0.0004	0.0013	0.0140	0.0008	0.0008	0.0134	0.0131	2.987e-05	0	0	2.519e-05	0	0.0002	1.799e-06	0.0006	0.0140	0.0004	0.0004	0.0002	0.0006	0.0130	0.0003	0.0003	0.0105	0.0095	0	0	0	0	0	0	0	0	0	0.0130	0.071	0.51248	T	0.435	0.38596	T	0.396	0.37720	B	0.064	0.33270	B	0.588279	0.05576	U	1.350040	1	0.08975	N	1.245	0.31408	L	2.57	0.26152	T	-1.16	0.29727	N	0.264	0.29889	-0.9850	0.33832	T	0.028	0.12147	T	10	0.0036293864	0.00066	T	.	.	.	0.055	0.15663	0.274	0.22528	0.187035705434	0.18338	0.12425565837346511	0.12351	0.462583942466	0.45788	0.355944156647	0.18793	T	0.059539	0.31144	T	-0.559824	0.00254	T	-0.565249	0.15888	T	0.0371548628444139	0.03182	T	0.533947	0.17813	T	0.11795781	0.27799	0.116286516	0.28073	0.14599451	0.33442	0.127532	0.30697	-2.795	0.08138	T	.	.	0.081	0.17189	B	.;.;.	.;.;.	-0.601094	0.01569	0.104	0.34240950733724657	0.02084	0.02204	0.06429	N	AEFDBI	0.055730	0.10245	N	-1.28788096900127	0.03820	0.1713512	-1.4413812656002	0.02849	0.1318243	0.999992727030635	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.13	-6.25	0.01863	-2.354000	0.01169	.	.	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.416000	0.27139	0.1488:0.1113:0.4941:0.2458	2.873	0.05276	741	0.52966	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2259.98	33	chr11	62130014	.	T	C	2259.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.207e+00;DP=1077;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-3.260e-01;SOR=0.713	GT:AD:DP:GQ:PL	0/1:93,96:189:99:2274,0,2319	20	0	1	0
chr11	64797520	64797520	C	T	exonic	MAP4K2	.	nonsynonymous SNV	MAP4K2:NM_001307990:exon17:c.G1151A:p.R384Q	.	.	365	1153	4	0	0	4	0.0017316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.138	B	0.004	B	0.356	N	0.938	N	0	N	-0.35	T	-1.042	T	0.097	T	0.089	1.167	9.749	2.38	1.129	0.421	5.041	0.039	.	0.0002	0.00638978	0.0118	0	0.0027	0.0015	0	8.286e-05	0.0042	0.0369	0.0031888	493	154602	rs201248836	0.0019	0.0020	0.0011	0.0027	0.0310	0.0018	0.0018	0.0299	0.0295	0.0002	0	0	0.0001	0	0.0007	4.595e-05	0.0022	0.0310	0.0011	0.0011	0.0004	0.0018	0.0319	0.0009	0.0009	0.0278	0.0262	9.632e-05	0	6.535e-05	0	0.0002	0	0	5.882e-05	0.0005	0.0319	0.192	0.20988	T	0.51	0.10821	T	0.138	0.27452	B	0.004	0.10090	B	0.356324	0.13738	N	0.672306	0.938197	0.26870	N	1.15	0.29295	L	-0.35	0.68892	T	-0.89	0.24244	N	0.158	0.18376	-1.0418	0.16770	T	0.097	0.36471	T	10	0.004230231	0.00085	T	.	.	.	0.039	0.10176	.	.	0.60004767732	0.59685	0.34777381450466155	0.34691	0.502431204672	0.48599	0.390242993832	0.23704	T	0.264375	0.63614	T	-0.516317	0.00462	T	-0.491432	0.23241	T	0.0178170832873011	0.00510	T	0.819218	0.48908	T	0.052033283	0.09645	0.04877528	0.07315	0.052033283	0.09645	0.04877528	0.07314	-4.257	0.27797	T	.	.	0.091	0.12938	B	.;.	.;.	3.007565	0.40211	21.1	0.98268601859121507	0.39740	0.14493	0.18432	N	AEFDGBI	0.091137	0.18463	N	-0.763658863053225	0.14264	0.7091753	-0.663324425760922	0.17881	0.952762	0.995670262324658	0.34259	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.68	2.38	0.28415	0.700000	0.25278	1.241000	0.25107	0.586000	0.30580	0.948000	0.32982	0.879000	0.27682	0.071000	0.16709	0.0:0.6925:0.0:0.3075	5.041	0.13797	334	0.86273	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1169.98	42	chr11	64797520	.	C	T	1169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=953;ExcessHet=0.0000;FS=1.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=1.31;SOR=0.506	GT:AD:DP:GQ:PL	0/1:62,45:107:99:1184,0,1578	20	0	1	0
chr11	64900535	64900535	C	T	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon31:c.G4399A:p.G1467R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	1.795	L	3.09	T	-0.549	T	0.316	T	0.381	4.933	28.6	4.7	2.601	2.426	15.523	0.142	0.0719144156673	7.7e-05	.	2.487e-05	0	8.652e-05	0	0	3.024e-05	0	0	1.94e-05	3	154602	rs140093847	1.506e-05	1.505e-05	1.226e-05	1.788e-05	0.0001	9.86e-06	8.42e-06	3.982e-05	2.373e-05	0.0001	4.472e-05	0	2.519e-05	0	0	1.169e-05	1.656e-05	1.159e-05	3.942e-05	3.94e-05	5.139e-05	2.69e-05	0.0002	1.715e-05	1.129e-05	1.171e-05	6.25e-06	4.827e-05	0	0	0	0.0002	0	0	4.41e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.93	0.84523	M	3.09	0.08371	T	-5.61	0.86686	D	0.399	0.43995	-0.5493	0.66813	T	0.316	0.68531	T	10	0.3381096	0.50922	T	0.071914	0.71394	D	0.174	0.44019	0.323	0.30387	0.290620346082	0.28682	0.711906392329666	0.71132	1.5434244008	0.87773	0.582800507545	0.50480	T	0.279469	0.65215	T	-0.202646	0.20424	T	-0.353017	0.38859	T	0.986062705516815	0.76881	D	0.910309	0.68205	D	0.7035704	0.78253	0.5807494	0.75699	0.7035704	0.78254	0.5807494	0.75700	-6.033	0.46555	T	.	.	0.300	0.53009	B	.	.	4.991673	0.82753	27.9	0.9993331135380219	0.99488	0.91875	0.54452	D	AEFDBHCI	0.507237	0.53762	D	0.270682893204786	0.54668	3.631948	0.316273796286601	0.56495	3.812962	0.999999999999996	0.74766	0.695654	0.57023	0	0.68618	0.66647	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.7	4.7	0.58776	5.462000	0.66439	5.875000	0.50578	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	15.523	0.75616	271	0.89373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1872.98	36	chr11	64900535	.	C	T	1872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.531;DP=872;ExcessHet=0.0000;FS=1.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=0.053;SOR=0.716	GT:AD:DP:GQ:PL	0/1:93,77:170:99:1887,0,2264	20	0	1	0
chr11	64902605	64902605	G	T	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon27:c.C3664A:p.L1222M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.441	B	0.138	B	0.000	D	1.000	D	2.395	M	2.07	T	-1.054	T	0.065	T	0.661	3.203	16.73	4.25	2.102	5.186	12.544	0.142	0.0133918804134	.	.	4e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs761954800	8.916e-06	8.893e-06	2.729e-06	1.517e-05	0.0001	4.98e-06	3.83e-06	8.015e-05	6.25e-05	0	0	0	0	0	0	0	1.661e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.053	0.47336	T	0.441	0.35913	B	0.138	0.33406	B	0.000031	0.55875	D	0.000000	0.99997	0.53665	D	2.34	0.67151	M	2.0	0.21473	T	-1.74	0.41239	N	0.557	0.58202	-1.0542	0.13251	T	0.065	0.26702	T	10	0.3877315	0.54665	T	0.013392	0.32756	T	0.142	0.37995	0.574	0.69826	0.320526991862	0.31653	0.586101740457699	0.58540	0.460280711038	0.45581	0.545097589493	0.45166	T	0.261787	0.63330	T	-0.202098	0.20502	T	-0.235928	0.51196	T	0.281640874875407	0.24240	T	0.831017	0.49766	T	0.31019008	0.53802	0.21885626	0.46604	0.31019008	0.53802	0.21885626	0.46603	-10.203	0.75117	D	.	.	0.196	0.41828	B	.	.	3.761911	0.53977	23.4	0.99160424036909811	0.54071	0.94405	0.61061	D	AEFBI	0.635029	0.61469	D	0.254670454921902	0.53870	3.554192	0.309470341660374	0.56094	3.772511	0.999999981553927	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.25	4.25	0.49658	4.550000	0.60443	5.740000	0.49568	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	12.544	0.55536	277	0.89083	Autophagy-related protein 2 CAD motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	593.98	19	chr11	64902605	.	G	T	593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.439e+00;DP=627;ExcessHet=0.0000;FS=4.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.549;SOR=0.318	GT:AD:DP:GQ:PL	0/1:20,27:47:99:608,0,515	20	0	1	0
chr11	66555204	66555204	G	A	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon6:c.G632A:p.R211Q	.	.	48	1464	9	1	0	11	0.00374277	.	.	3210751	ACTN3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00798722	0.0056	0.0013	0.0005	0.0001	0	3e-05	0.0033	0.0393	0.0047994	742	154602	rs200452235	0.0024	0.0024	0.0014	0.0035	0.0377	0.0024	0.0024	0.0366	0.0361	0.0017	0.0002	0	0	3.745e-05	0.0019	8.184e-05	0.0026	0.0377	0.0019	0.0019	0.0013	0.0024	0.0406	0.0017	0.0016	0.0359	0.0341	0.0018	0	6.554e-05	0	0.0004	0	0	0.0001	0.0009	0.0406	.	.	.	0.424	0.24054	T	0.944	0.53183	P	0.752	0.56092	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.697	0.70175	.	.	.	.	.	.	.	0.010115027	0.00226	T	.	.	.	.	.	.	.	0.409533910539	0.40566	0.498815319218225	0.49802	.	.	0.53263258934	0.43405	T	0.303172	0.88914	T	-0.0605291	0.42826	T	0.168846	0.81342	D	.	.	.	0.931907	0.74605	D	0.35212743	0.57232	0.3293539	0.58815	0.35212743	0.57232	0.3293539	0.58814	-6.781	0.52418	T	.	.	0.083	0.12938	B	.;.	.;.	4.580915	0.72362	25.8	0.99885112663059028	0.96049	0.70489	0.34611	D	AEFBI	0.585410	0.58385	D	.	.	.	.	.	.	0.999986212798643	0.51787	0.252514	0.04256	0	0.097471	0.02872	0	0.295636	0.05589	0	0.058706	0.01089	0	.	.	4.55	4.55	0.55429	4.256000	0.58601	5.909000	0.50995	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.222000	0.22517	0.0:0.0:1.0:0.0	14.867	0.70064	59	0.97452	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	0.04762	6362.11	34	chr11	66555204	.	G	A	6362.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.98;DP=1211;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.046;SOR=0.669	GT:AD:DP:GQ:PL	0/1:122,129:251:99:3313,0,3036	19	0	2	0
chr11	66744819	66744819	-	GGCGGCGGCGGC	exonic	C11orf80	.	nonframeshift insertion	C11orf80:NM_024650:exon1:c.77_78insGGCGGCGGCGGC:p.A34_G35insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0	0.0263	0	.	0.0018	0	0.0009	0.0001682	26	154602	rs567536854	0.0073	0.0075	0.0073	0.0073	0.0076	0.0072	0.0071	0.0075	0.0074	0.0029	0.0051	0.0060	0.0063	0.0104	0.0035	0.0076	0.0060	0.0026	0.0074	0.0075	0.0078	0.0071	0.0102	0.0071	0.0069	0.0088	0.0086	0.0037	0.0022	0.0072	0.0079	0.0102	0.0097	0	0.0094	0.0117	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	25402.44	33	chr11	66744819	.	G	GGGC,GGGCGGC,GGGCGGCGGCGGC	25402.44	.	AC=18,3,1;AF=0.429,0.071,0.024;AN=42;BaseQRankSum=-1.780e-01;DP=1238;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=18,3,1;MLEAF=0.429,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.88;ReadPosRankSum=-4.000e-02;SOR=0.747	GT:AD:DP:GQ:PL	1/1:0,64,0,0:64:99:2798,192,0,2798,192,2798,2798,192,2798,2798	5	4	8	0
chr11	68357679	68357679	C	T	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_002335:exon3:c.C518T:p.T173M,	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	656079	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.985	D	0.75	P	0.004	U	0.935	N	0.865	L	-3.86	D	0.283	D	0.785	D	0.694	2.208	13.34	1.67	0.495	0.181	10.431	0.607	0.21634041609	0.0006	0.000199681	0.0004	0.0009	9.024e-05	0.0015	0	0.0002	0	0.0004	0.0003752	58	154602	rs80358306	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0004	0.0004	0.0008	0.0006	1.872e-05	0.0003	0.0002	0.0005	0.0005	0.0005	0.0005	0.0005	0.0005	0.0027	0.0004	0.0004	0.0016	0.0013	0.0008	0	0.0003	0.0009	0.0027	0	0	0.0002	0	0.0012	0.108	0.29420	T	0.226	0.25438	T	0.985	0.61118	D	0.75	0.56031	P	0.004093	0.34125	U	0.121287	0.0650809	0.26958	A	0.915	0.23335	L	-3.86	0.95891	D	-0.41	0.14000	N	0.713	0.71587	0.283	0.87286	D	0.785	0.92687	D	10	0.74761367	0.75402	D	0.21634	0.87553	D	0.607	0.84559	.	.	0.832132573608	0.83053	0.46446226189846984	0.46365	0.541816848093	0.51312	0.356171399355	0.18827	T	0.575265	0.86003	D	-0.116914	0.33629	T	0.0559205	0.73974	D	0.013185242503559	0.00233	T	0.482752	0.14626	T	0.026173577	0.01642	0.04735288	0.06801	0.026173577	0.01642	0.04735288	0.06801	-6.587	0.50953	T	0.2430616354072601	0.32923	0.061	0.01042	B	.	.	2.895196	0.38354	20.7	0.99656327618987361	0.77631	0.16534	0.19433	N	AEFDGBI	0.125916	0.24263	N	-0.363583619645788	0.26775	1.463941	-0.454995917046379	0.23407	1.276338	0.796711430718976	0.24113	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.56	1.67	0.23149	-0.110000	0.10794	1.351000	0.25808	-0.193000	0.09282	0.000000	0.06391	0.782000	0.26788	0.934000	0.47231	0.0:0.8325:0.0:0.1675	10.431	0.43595	511	0.75131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1300.98	38	chr11	68357679	.	C	T	1300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=797;ExcessHet=0.0000;FS=10.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.192;SOR=1.665	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1315,0,1388	20	0	1	0
chr11	68939585	68939585	C	T	exonic	IGHMBP2	.	nonsynonymous SNV	IGHMBP2:NM_002180:exon15:c.C2836T:p.R946W,	Charcot-Marie-Tooth disease, axonal, type 2S, Autosomal recessive;Neuronopathy, distal hereditary motor, type VI, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	244695	Charcot-Marie-Tooth_disease|Inborn_genetic_diseases|not_specified|Autosomal_recessive_distal_spinal_muscular_atrophy_1|Charcot-Marie-Tooth_disease_axonal_type_2S	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0011436,MedGen:C1858517,OMIM:604320,Orphanet:98920|MONDO:MONDO:0014511,MedGen:C4015349,OMIM:616155,Orphanet:443073	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.936	D	0.000	D	1.000	D	2.045	M	0.91	T	-0.649	T	0.206	T	0.825	3.685	18.73	2.39	2.054	1.364	12.226	0.336	.	.	0.00199681	0.0011	0	0	0	0	1.554e-05	0.0011	0.0075	0.0009056	140	154602	rs373943338	0.0004	0.0004	0.0003	0.0006	0.0065	0.0004	0.0004	0.0060	0.0058	2.988e-05	0	0	0.0003	0	0.0002	7.194e-06	0.0005	0.0065	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0.0004	0	0	1.47e-05	0	0.0077	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.936	0.67150	D	0.000491	0.43931	D	0.161449	0.998454	0.44939	D	2.295	0.65404	M	0.91	0.44856	T	-3.59	0.69236	D	0.396	0.43706	-0.6493	0.62745	T	0.206	0.56403	T	10	0.009153038	0.00207	T	.	.	.	0.336	0.65816	0.473	0.54859	0.646692631277	0.64376	0.453219231315729	0.45239	0.765212149716	0.64460	0.641802251339	0.58821	T	0.423649	0.77433	T	-0.216202	0.18514	T	-0.0794697	0.64943	T	0.090483919984996	0.11275	T	0.957038	0.83775	D	0.29271874	0.52244	0.32100776	0.58052	0.29271874	0.52244	0.32100776	0.58051	-10.341	0.75928	D	0.8426057206980166	0.91077	0.170	0.37407	B	.	.	5.075698	0.84675	28.4	0.99920812002372428	0.98721	0.80007	0.39762	D	AEFGBI	0.567769	0.57322	D	0.443743885921291	0.63848	4.626754	0.367690406618419	0.59579	4.137104	0.449626563191079	0.20528	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.54	2.39	0.28492	1.069000	0.30252	3.181000	0.36657	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.2659:0.7341:0.0:0.0	12.226	0.53773	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	0.02381	1431.98	34	chr11	68939585	.	C	T	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=822;ExcessHet=0.0000;FS=0.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=-2.319e+00;SOR=0.647	GT:AD:DP:GQ:PL	0/1:44,57:101:99:1446,0,929	20	0	1	0
chr11	70473146	70473146	G	A	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_133266:exon11:c.C3509T:p.A1170V	.	.	.	.	.	.	.	.	.	.	.	2813456	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.012	B	0.006	B	0.001	N	0.998	D	0.69	N	3.07	T	-1.091	T	0.056	T	0.278	1.506	10.98	1.76	0.063	0.828	5.099	0.037	0.00694502000381	.	.	4.12e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs782764781	5.267e-05	5.267e-05	3.948e-05	6.6e-05	0.0006	4.277e-05	3.952e-05	0.0004	0.0004	2.987e-05	0	0	0	0	0.0002	1.978e-05	8.279e-05	0.0006	4.599e-05	4.597e-05	1.284e-05	8.07e-05	0.0010	2.109e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.94e-05	0	0.0010	0.272	0.15930	T	0.602	0.36765	T	0.008	0.14655	B	0.006	0.12133	B	0.000661	0.42656	N	0.259771	0.998039	0.22385	N	.	.	.	2.35	0.49358	T	-1.08	0.28084	N	0.02	0.06454	-1.0905	0.05449	T	0.056	0.23715	T	10	0.030779183	0.01206	T	0.006945	0.18374	T	0.037	0.09474	.	.	0.102598925029	0.09809	0.4613013275029344	0.46048	0.861284270804	0.68974	0.406185626984	0.25928	T	0.023892	0.18153	T	-0.400041	0.02313	T	-0.490441	0.23345	T	0.0423901602625847	0.04127	T	0.714029	0.33490	T	.	.	.	.	.	.	.	.	-4.403	0.29598	T	.	.	0.071	0.07650	B	.;.;.;.;.	.;.;.;.;.	1.340425	0.17468	13.18	0.93534170633223579	0.23357	0.54628	0.29662	D	AEFDBI	0.128982	0.24698	N	-0.924563828903588	0.10269	0.4899436	-0.798722420796635	0.14526	0.7594493	0.839347643957352	0.24837	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.91	1.76	0.23776	1.128000	0.30982	0.765000	0.21347	-0.704000	0.03997	0.941000	0.32681	0.069000	0.22184	0.953000	0.50222	0.323:0.1392:0.5377:0.0	5.099	0.14085	934	0.15400	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1726.98	33	chr11	70473146	.	G	A	1726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=1.47;SOR=0.664	GT:AD:DP:GQ:PL	0/1:66,67:133:99:1741,0,1567	20	0	1	0
chr11	71819690	71819690	A	G	exonic	ZNF705E	.	nonsynonymous SNV	ZNF705E:NM_001278713:exon2:c.T94C:p.Y32H,	.	.	462	1051	9	0	0	9	0.00426338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0002781	43	154602	rs200943829	0.0052	0.0051	0.0051	0.0052	0.0059	0.0051	0.0050	0.0058	0.0057	0.0009	0.0025	0.0074	0	0.0011	0.0039	0.0059	0.0047	0.0022	0.0036	0.0036	0.0041	0.0031	0.0058	0.0034	0.0033	0.0053	0.0052	0.0012	0	0.0033	0.0075	0	0.0014	0	0.0058	0.0052	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.275	0.64647	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036628067	0.01971	T	.	.	.	.	.	.	.	.	.	0.06214427180188174	0.06154	.	.	.	.	.	0.103053	0.41134	T	.	.	.	.	.	.	.	.	.	0.813119	0.46553	T	0.057487607	0.11447	0.1876694	0.42012	0.057487607	0.11446	0.1876694	0.42011	-5.207	0.39013	T	.	.	0.585	0.68256	P	.	.	0.699060	0.10679	7.374	0.30829708431274105	0.01706	0.07211	0.13235	N	AEFI	.	.	.	.	.	.	.	.	.	1.12518209006638E-6	0.01202	0.080785	0.02172	0	0.060609	0.00678	0	0.078618	0.02440	0	0.10565	0.03146	0	0.0824272	0.18874	1.12	-0.126	0.12855	4.136000	0.57766	.	.	0.222000	0.18087	0.982000	0.35529	0.035000	0.21413	0.351000	0.25682	0.7827:0.0:0.2173:0.0	4.488	0.11213	246	0.90367	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	1492.33	35	chr11	71819690	.	A	G	1492.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=5.40;DP=742;ExcessHet=0.0000;FS=4.159;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=34.57;MQRankSum=1.03;QD=17.56;ReadPosRankSum=1.93;SOR=0.681	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1506,0,941	19	0	1	1
chr11	73296931	73296931	G	A	exonic	P2RY6	.	nonsynonymous SNV	P2RY6:NM_001277208:exon2:c.G716A:p.R239H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.019	B	0.008	B	0.007	N	1.000	N	0.825	L	-0.83	T	-0.950	T	0.196	T	0.276	0.722	7.840	1.35	0.162	3.342	6.985	0.106	0.0205262604868	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779908841	1.168e-05	1.231e-05	1.231e-05	1.105e-05	0.0001	7.12e-06	5.82e-06	4.359e-05	2.767e-05	0	0.0001	0	0	0	0	8.094e-06	1.657e-05	2.319e-05	3.284e-05	3.283e-05	2.569e-05	4.033e-05	0.0002	1.26e-05	7.98e-06	2.26e-05	9.07e-06	2.411e-05	0	0.0001	0	0.0002	0	0	1.47e-05	0	0	0.309	0.23997	T	0.041	0.57104	D	0.019	0.17989	B	0.008	0.13708	B	0.006711	0.31850	N	0.298586	0.999692	0.20667	N	1.445	0.36358	L	-0.83	0.74159	T	-1.3	0.33197	N	0.128	0.12484	-0.9504	0.40903	T	0.196	0.55071	T	10	0.16716644	0.31196	T	0.020526	0.43144	T	0.106	0.30130	0.644	0.78117	0.66287732929	0.66004	0.23758004861340418	0.23672	0.449666334578	0.44752	0.427241355181	0.28831	T	0.141508	0.47661	T	-0.229031	0.16777	T	-0.341062	0.40225	T	0.073809988796711	0.09176	T	0.80292	0.45144	T	0.060319994	0.12363	0.044584583	0.05809	0.060319994	0.12362	0.044584583	0.05809	-5.091	0.37812	T	.	.	0.086	0.12418	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.990106	0.25286	16.71	0.86912079412006293	0.16858	0.52851	0.29230	D	AEFGBI	0.174518	0.30166	N	-0.422618229658856	0.24678	1.334225	-0.307950203194096	0.27841	1.547786	0.997884612550419	0.36150	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.42	1.35	0.21078	2.265000	0.42968	1.396000	0.26156	0.618000	0.50648	0.943000	0.32764	0.842000	0.27309	0.976000	0.56436	0.5838:0.0:0.4162:0.0	6.985	0.23905	558	0.71484	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2621.98	36	chr11	73296931	.	G	A	2621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.590e-01;DP=929;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-1.253e+00;SOR=0.707	GT:AD:DP:GQ:PL	0/1:99,102:201:99:2636,0,2443	20	0	1	0
chr11	73363827	73363827	G	A	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon16:c.G5327A:p.C1776Y,	.	.	403	1118	1	0	0	1	0.000447027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.87	P	0.000	D	1.000	D	2.455	M	1.17	T	-0.670	T	0.209	T	0.87	3.631	18.47	4.65	2.813	7.745	16.284	0.438	0.0214256219007	0.0002	.	0.0003	0	8.67e-05	0.0007	0	0.0005	0	0	0.0002652	41	154602	rs151153426	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	2.987e-05	0.0001	0.0054	0.0008	5.648e-05	0.0003	6.745e-05	0.0005	5.797e-05	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	4.824e-05	0	0.0004	0.0081	0.0004	0	0	8.818e-05	0.0010	0	0.001	0.78490	D	0.006	0.70582	D	0.994	0.66517	D	0.87	0.61806	P	0.000000	0.84330	D	0.092108	0.999996	0.58761	D	2.045	0.56016	M	1.17	0.37910	T	-5.6	0.86608	D	0.929	0.93370	-0.6698	0.61838	T	0.209	0.56879	T	10	0.029158562	0.01044	T	0.021426	0.44197	T	0.438	0.74235	.	.	0.735388079799	0.73302	0.8415937322844248	0.84119	0.858288732314	0.68850	0.856853783131	0.90643	D	0.346026	0.71434	T	-0.0400648	0.45938	T	0.111898	0.77699	D	0.123604137325326	0.14779	T	0.877812	0.59215	D	0.83550835	0.86289	0.83395946	0.90444	0.83550835	0.86290	0.83395946	0.90444	-11.341	0.81495	D	.	.	0.908	0.83331	P	.;.	.;.	4.984085	0.82574	27.8	0.99430959016765952	0.64276	0.98608	0.84646	D	AEFGBI	0.940844	0.94334	D	0.846348458293442	0.88898	9.755466	0.823781981202887	0.91396	10.86544	0.999999999120292	0.74766	0.736574	0.97449	0	0.708844	0.79440	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.61	4.65	0.57626	7.966000	0.87508	9.505000	0.80913	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.132:0.868:0.0	16.284	0.82537	461	0.78683	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2457.98	40	chr11	73363827	.	G	A	2457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.860e+00;DP=941;ExcessHet=0.0000;FS=1.068;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=0.550;SOR=0.793	GT:AD:DP:GQ:PL	0/1:110,102:212:99:2472,0,2843	20	0	1	0
chr11	74497429	74497429	G	A	exonic	LOC100287896	.	nonsynonymous SNV	LOC100287896:NM_001319240:exon2:c.G524A:p.C175Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	57.56	25	chr11	74497429	.	G	A	57.56	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.059e+00;DP=703;ExcessHet=0.1072;FS=183.064;InbreedingCoeff=-0.0625;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=1.17;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,7:30:10:0|1:74497428_T_C:10,0,626:74497428	19	0	2	0
chr11	75200252	75200252	T	G	exonic	SLCO2B1	.	nonsynonymous SNV	SLCO2B1:NM_001145212:exon8:c.T1196G:p.V399G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.002	B	0.072	N	1.000	N	-1.655	N	1.33	T	-1.020	T	0.021	T	0.189	-0.492	1.740	-10.7	-1.839	-4.298	3.482	0.049	0.00701662447304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	8.997e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.997e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.12032	T	0.401	0.15206	T	.	.	.	.	.	.	0.071706	0.02257	N	1.776740	1	0.08975	N	.	.	.	1.21	0.40218	T	1.05	0.01350	N	0.216	0.27554	-1.0202	0.23649	T	0.021	0.09101	T	10	0.08808592	0.15134	T	0.007017	0.18594	T	0.049	0.13647	0.636	0.77251	0.207176502487	0.20327	0.662942570407099	0.66231	0.332585113786	0.35307	0.264276891947	0.05411	T	0.004086	0.03492	T	-0.299166	0.08740	T	-0.667507	0.07769	T	0.703019678592682	0.40862	D	0.0469953	0.00709	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.01367	B	.;.;.;.;.	.;.;.;.;.	-1.689985	0.00199	0.003	0.42602509334523647	0.03151	0.00981	0.03737	N	AEFDGBI	0.398005	0.47386	N	-2.18605553461058	0.00082	0.003525161	-2.20421827897562	0.00110	0.004818503	0.999999999975251	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	5.37	-10.7	0.00191	-4.102000	0.00334	-10.355000	0.00711	-1.812000	0.00610	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1709:0.2512:0.0846:0.4934	3.482	0.07171	726	0.54788	Kazal domain;Kazal domain;Kazal domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1433.98	37	chr11	75200252	.	T	G	1433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.301;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.408;SOR=0.747	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1448,0,1638	20	0	1	0
chr11	75790677	75790677	G	C	exonic	DGAT2	.	nonsynonymous SNV	DGAT2:NM_001253891:exon3:c.G246C:p.Q82H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.001	B	0.004	B	0.004	N	0.986	D	0.5	N	2.49	T	-1.040	T	0.019	T	0.213	1.974	12.56	2.84	1.418	0.286	6.881	0.030	0.00666743143697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.25154	T	0.151	0.35205	T	0.0	0.07471	B	0.003	0.10090	B	0.004355	0.33837	N	0.333863	0.97632	0.40428	D	0.855	0.21307	L	2.49	0.14531	T	-1.3	0.32590	N	0.453	0.53093	-1.0397	0.17404	T	0.019	0.08079	T	10	0.22017238	0.38707	T	0.006667	0.17614	T	0.030	0.07022	0.366	0.37361	0.435479573448	0.43164	0.5767030369785602	0.57599	0.124924772156	0.14072	0.412064880133	0.26743	T	0.087399	0.37934	T	-0.243477	0.14909	T	-0.587515	0.13882	T	0.263444721698761	0.23465	T	0.568943	0.21717	T	0.07249969	0.16133	0.07920755	0.17812	0.07249969	0.16132	0.07920755	0.17812	-4.871	0.36861	T	.	.	0.129	0.35684	B	.;.;.;.;.;.	.;.;.;.;.;.	2.261330	0.28895	17.95	0.98836438711233632	0.47052	0.32600	0.24625	N	AEFGBI	0.607410	0.59738	D	-0.458562703827016	0.23450	1.259416	-0.318562139783782	0.27499	1.526353	0.999101394889335	0.38452	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.72	2.84	0.32241	0.145000	0.15978	1.972000	0.29992	0.676000	0.76740	0.026000	0.20160	1.000000	0.68203	0.997000	0.79791	0.3234:0.0:0.6766:0.0	6.881	0.23352	569	0.70546	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1374.98	45	chr11	75790677	.	G	C	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.568e+00;DP=835;ExcessHet=0.0000;FS=5.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-9.470e-01;SOR=1.255	GT:AD:DP:GQ:PL	0/1:43,57:100:99:1389,0,1062	20	0	1	0
chr11	89873277	89873277	A	G	exonic	TRIM64B	.	nonsynonymous SNV	TRIM64B:NM_001164397:exon4:c.T749C:p.V250A,	.	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	1.1	L	3.45	T	-0.946	T	0.002	T	0.087	-0.279	2.664	-1.33	-0.375	1.298	1.545	0.025	.	.	0.0157748	0.0074	0	0	0.0839	0.0397	0.0012	0.0248	0.0038	0.0037652	98	26028	rs145567554	0.0033	0.0036	0.0033	0.0034	0.0636	0.0033	0.0032	0.0614	0.0605	3.166e-05	0.0002	0.0002	0.0636	0.0348	0.0004	0.0002	0.0039	0.0033	0.0053	0.0056	0.0037	0.0070	0.0625	0.0050	0.0049	0.0569	0.0547	2.403e-05	0	0.0001	0	0.0625	0.0382	0	0.0007	0.0028	0.0058	0.065	0.36310	T	0.278	0.21812	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.99	0.25021	L	3.45	0.05311	T	-2.42	0.53096	N	0.373	0.41459	-0.9456	0.41715	T	0.002	0.00556	T	6	0.0025877059	0.00039	T	.	.	.	0.025	0.05312	.	.	0.0138822411134	0.00435	0.041091665155754666	0.04054	.	.	0.723943293095	0.70622	T	0.057542	0.30595	T	-0.685569	0.00044	T	-0.717322	0.04926	T	0.0234809087666889	0.01081	T	0.19658	0.02172	T	0.04447285	0.07116	0.06927382	0.14574	0.04447285	0.07116	0.06927382	0.14574	-4.291	0.28051	T	.	.	0.203	0.42720	B	.	.	0.740486	0.11100	7.747	0.48607109496303819	0.04070	0.01695	0.05397	N	AEFI	0.021430	0.00953	N	-0.950278260407947	0.09686	0.4595183	-1.1502486527944	0.06764	0.3266707	1.45941072794058E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-1.33	0.08693	1.250000	0.32453	-0.340000	0.09823	0.341000	0.19778	0.061000	0.21800	0.000000	0.08366	0.018000	0.11154	0.4855:0.0:0.2115:0.303	1.545	0.02409	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5904.98	36	chr11	89873277	.	A	G	5904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=1603;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.84;MQRankSum=-1.124e+01;QD=7.18;ReadPosRankSum=-1.050e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/1:527,295:822:99:5919,0,12151	20	0	1	0
chr11	92836603	92836603	A	G	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon16:c.A10124G:p.Q3375R	.	.	436	1085	1	0	0	1	0.000460617	.	.	3198546	FAT3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.002	B	.	.	1.000	D	0.195	N	4.68	T	-0.759	T	0.003	T	0.2	0.660	7.539	4.07	2.090	1.811	9.350	0.069	.	0.0003	0.00379393	0.0028	0.0009	0.0211	0.0092	0	4.504e-05	0.0011	0.0003	0.0025291	391	154602	rs76958954	0.0009	0.0009	0.0010	0.0008	0.0179	0.0009	0.0008	0.0169	0.0165	0.0002	0.0179	0	0.0095	5.618e-05	0	2.339e-05	0.0011	0.0003	0.0015	0.0015	0.0015	0.0016	0.0101	0.0014	0.0013	0.0088	0.0083	0.0007	0	0.0101	0	0.0085	0	0	1.47e-05	0.0009	0.0002	0.515	0.07378	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.974	0.25532	N	0.27	0.09956	N	4.68	0.01715	T	-0.18	0.09796	N	0.267	0.30233	-0.7590	0.57460	T	0.003	0.00929	T	9	0.006727904	0.00153	T	.	.	.	0.069	0.20116	.	.	0.110392049598	0.10638	0.256163921911294	0.25530	.	.	0.362449079752	0.19743	T	0.035938	0.23912	T	-0.594107	0.00158	T	-0.611234	0.11885	T	0.00471803560030105	0.00050	T	.	.	.	0.087120816	0.20275	0.10465075	0.25140	0.087120816	0.20274	0.10465075	0.25139	-3.83	0.21253	T	.	.	0.072	0.04277	B	.;.	.;.	1.895075	0.24068	16.26	0.95924150712293588	0.28195	0.87378	0.46899	D	AEFI	0.385528	0.46624	N	-0.404469056606693	0.25313	1.373128	-0.203939650874836	0.31394	1.776311	0.980574336127304	0.30152	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.2	4.07	0.46726	2.540000	0.45386	5.954000	0.51702	0.756000	0.94297	0.997000	0.40164	1.000000	0.68203	0.810000	0.38174	0.919:0.0:0.081:0.0	9.350	0.37294	845	0.36510	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	0.02381	1199.98	37	chr11	92836603	.	A	G	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.128;DP=818;ExcessHet=0.0000;FS=2.327;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=1.32;SOR=0.472	GT:AD:DP:GQ:PL	0/1:68,55:123:99:1214,0,1617	20	0	1	0
chr11	93706835	93706835	C	T	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon18:c.C5687T:p.P1896L,	.	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.628	P	0.063	B	0.644	N	1.000	N	1.32	L	1.57	T	-1.019	T	0.028	T	0.241	3.012	16.05	2.96	1.289	0.597	4.998	0.046	.	0.0007	0.00638978	0.0043	0.0023	0	0.0225	0	0.0007	0.0083	0.0083	0.0009702	150	154602	rs149280308	0.0010	0.0009	0.0008	0.0011	0.0151	0.0009	0.0009	0.0140	0.0136	0.0006	0.0001	0.0011	0.0151	2.032e-05	0.0004	9.277e-05	0.0014	0.0075	0.0013	0.0013	0.0010	0.0015	0.0174	0.0011	0.0011	0.0145	0.0134	0.0008	0	0.0002	0.0009	0.0174	0	0	0.0002	0	0.0091	0.003	0.68238	D	0.014	0.63109	D	0.628	0.40146	P	0.063	0.27082	B	0.644340	0.05886	N	1.252410	1	0.08975	N	.	.	.	1.57	0.29342	T	-2.71	0.90371	D	0.098	0.07949	-1.0193	0.23943	T	0.028	0.11926	T	10	0.0043031275	0.00087	T	.	.	.	0.046	0.12618	.	.	0.126345400529	0.12197	0.052836663715717595	0.05225	0.119112823779	0.13412	0.236834675074	0.02512	T	0.061598	0.44768	T	-0.526236	0.00404	T	-0.516354	0.20664	T	0.0169105972932362	0.00443	T	0.692831	0.30243	T	0.049719047	0.08872	0.08288143	0.18950	0.049719047	0.08871	0.08288143	0.18949	-3.983	0.23548	T	.	.	0.108	0.31906	B	.;.;.	.;.;.	1.394752	0.18080	13.54	0.98494912389534894	0.42144	0.02845	0.07598	N	AEFBI	0.030862	0.03186	N	-0.495069816671846	0.22241	1.186232	-0.573735770833667	0.20179	1.086008	2.68716967240464E-4	0.06244	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.14	2.96	0.33383	0.617000	0.24053	1.472000	0.26760	0.599000	0.40250	0.001000	0.13787	0.004000	0.18990	0.003000	0.05239	0.2604:0.6333:0.0:0.1063	4.998	0.13594	833	0.38804	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1157.98	33	chr11	93706835	.	C	T	1157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.052;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=0.218;SOR=0.687	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1172,0,974	20	0	1	0
chr11	94111823	94111823	C	T	exonic	HEPHL1	.	nonsynonymous SNV	HEPHL1:NM_001098672:exon20:c.C3409T:p.L1137F,	.	.	428	1080	14	0	0	14	0.00643974	.	.	3220374	HEPHL1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.991	D	.	.	1.000	N	0.895	L	-5.83	D	0.014	D	0.613	D	0.276	0.353	5.918	3.59	0.691	0.695	10.372	0.310	.	0.0004	0.0161741	0.0066	0.0011	0.0002	0.0785	0	0.0001	0.0052	0.0036	0.0057502	889	154602	rs117805838	0.0026	0.0026	0.0027	0.0026	0.0755	0.0026	0.0025	0.0733	0.0724	0.0006	0.0002	0.0002	0.0755	0	0.0013	0.0001	0.0056	0.0028	0.0032	0.0032	0.0027	0.0037	0.0748	0.0030	0.0029	0.0687	0.0662	0.0012	0	0.0010	0	0.0748	0	0	0.0002	0.0028	0.0041	0.051	0.39334	T	0.08	0.41913	T	0.998	0.73220	D	0.991	0.79672	D	.	.	.	.	1	0.08975	N	0.895	0.22405	L	-5.83	0.99392	D	-0.85	0.23156	N	0.167	0.17691	0.014	0.82535	D	0.613	0.86301	D	9	0.0024302304	0.00036	T	.	.	.	0.310	0.63162	.	.	0.629215704067	0.62618	0.18254718032147818	0.18173	0.0413162352792	0.04434	0.379267841578	0.22152	T	0.01056	0.09523	T	-0.29428	0.09210	T	-0.137138	0.60365	T	0.0118397594587203	0.00184	T	0.490951	0.15096	T	0.04864536	0.08512	0.08717155	0.20246	0.04864536	0.08512	0.08717155	0.20245	-4.163	0.26214	T	.	.	0.061	0.01059	B	.	.	1.557255	0.19948	14.52	0.94565590466434357	0.25095	0.06385	0.12387	N	AEFDBIJ	0.051261	0.09041	N	-0.358489282906205	0.26961	1.475562	-0.50408002154046	0.22041	1.195282	0.999303037639399	0.39077	0.554377	0.28877	0	0.624306	0.53593	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.45	3.59	0.40253	0.650000	0.24544	2.689000	0.34074	-0.171000	0.11205	0.016000	0.19238	0.993000	0.31925	0.183000	0.21389	0.0:0.8395:0.0:0.1605	10.372	0.43243	712	0.56465	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3467.08	34	chr11	94111823	.	C	T	3467.08	.	AC=2;AF=0.048;AN=42;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.52;SOR=1.274	GT:AD:DP:GQ:PL	1/1:0,110:110:99:3495,330,0	20	1	0	0
chr11	96092217	96092219	TGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1812_1814del:p.Q621del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	82727.93	103	chr11	96092210	.	TTGCTGCTGC	T,TTGCTGC	82727.93	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-1.300e-01;DP=3240;ExcessHet=0.3300;FS=2.351;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.99;MQRankSum=0.00;QD=26.30;ReadPosRankSum=0.083;SOR=1.120	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,106,0:106:99:.:.:4548,321,0,4548,321,4548	0	17	3	0
chr11	101128769	101128769	G	T	exonic	PGR	.	nonsynonymous SNV	PGR:NM_000926:exon1:c.C302A:p.S101Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.971	D	0.601	P	0.221	N	1.000	N	2.175	M	3.18	T	-1.089	T	0.037	T	0.329	2.382	13.92	3.26	2.176	0.952	9.539	0.065	0.040955937106	.	0.000399361	0.0001	0	0	0	0	0	0	0.0011	0.0001294	20	154602	rs573557192	5.473e-05	5.472e-05	3.404e-05	7.564e-05	0.0008	4.477e-05	4.148e-05	0.0007	0.0006	0	0	0	0	0	0	8.993e-07	9.935e-05	0.0008	2.626e-05	2.625e-05	1.284e-05	4.028e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.002	0.72154	D	0.018	0.66756	D	0.948	0.53620	P	0.601	0.50808	P	0.220910	0.16140	N	0.521213	1	0.19989	N	2.045	0.56016	M	3.18	0.07478	T	-1.78	0.42001	N	0.268	0.34012	-1.0889	0.05718	T	0.037	0.16116	T	10	0.01952383	0.00437	T	0.040956	0.59663	D	0.065	0.18881	0.369	0.37850	0.464188422262	0.46044	0.13593680064662167	0.13517	.	.	0.439577639103	0.30519	T	0.183926	0.53643	T	-0.478539	0.00754	T	-0.516512	0.20649	T	0.217880734176973	0.21358	T	0.855414	0.55526	D	0.20625925	0.42795	0.26950994	0.52832	0.20625925	0.42794	0.26950994	0.52831	-6.296	0.48928	T	.	.	0.118	0.39697	B	.;.;.;.	.;.;.;.	3.413059	0.47354	22.4	0.99167369164540153	0.54269	0.28160	0.23477	N	AEFDBHCI	0.081738	0.16544	N	-0.00115981596437442	0.41803	2.506984	-0.160896762717837	0.32990	1.882539	0.999968446931935	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.2	3.26	0.36471	0.503000	0.22318	6.682000	0.56313	0.590000	0.31872	0.000000	0.06391	0.997000	0.33255	0.878000	0.41950	0.1035:0.0:0.8965:0.0	9.539	0.38407	893	0.26510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2515.98	43	chr11	101128769	.	G	T	2515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.939e+00;DP=988;ExcessHet=0.0000;FS=1.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=-4.420e-01;SOR=0.523	GT:AD:DP:GQ:PL	0/1:69,97:166:99:2530,0,1790	20	0	1	0
chr11	102842429	102842429	A	C	splicing	MMP3	NM_002422:exon3:c.499+2T>G	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.857	12.17	6.16	2.367	9.009	16.806	.	.	.	.	0.0004	0	0.0001	0	0.0064	0.0002	0	0.0002	.	.	.	.	2.086e-05	5.618e-05	1.904e-05	2.273e-05	0.0001	1.164e-05	8.96e-06	1.83e-05	7.46e-06	8.443e-05	0	9.256e-05	4.578e-05	4.403e-05	0	1.009e-05	7.556e-05	0.0001	0.0005	0.0021	0.0007	0.0003	0.0019	0.0003	0.0002	0.0003	0.0002	0.0011	0	0	0	0	0	0	0.0004	0.0086	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197312	0.73641	D	0.0456489	0.73297	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.839421	0.78995	27.0	0.9793394705627908	0.36978	0.99771	0.99347	D	AEBI	.	.	.	1.08370277589635	0.97821	16.83255	0.912702695708804	0.96102	14.30564	0.999999820539921	0.74766	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	0.959304	0.64975	6.16	6.16	0.99302	5.701000	0.67981	11.058000	0.85397	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.602000	0.31438	1.0:0.0:0.0:0.0	16.806	0.85530	809	0.43032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	96.41	39	chr11	102842429	.	A	C	96.41	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.559e+00;DP=794;ExcessHet=0.3300;FS=9.975;InbreedingCoeff=-0.2970;MLEAC=5;MLEAF=0.357;MQ=59.81;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.90;SOR=1.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,8:33:52:.:.:52,0,526	4	0	3	14
chr11	103236469	103236469	A	G	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon63:c.A9749G:p.Q3250R	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	11	1492	18	1	0	20	0.00665779	.	.	195492	not_specified|not_provided|Short_rib-polydactyly_syndrome|Jeune_thoracic_dystrophy	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.518	P	0.252	B	0.000	D	1.000	D	0.92	L	1.65	T	-1.063	T	0.092	T	0.559	3.587	18.27	5.69	2.167	8.812	15.990	0.174	.	0.0012	0.00239617	0.0029	0.0002	0.0009	0	0	0.0022	0.0022	0.0116	0.002652	410	154602	rs140830294	0.0023	0.0024	0.0021	0.0026	0.0115	0.0023	0.0022	0.0109	0.0106	0.0002	0.0011	0.0131	0	0.0002	0.0112	0.0016	0.0031	0.0115	0.0019	0.0019	0.0020	0.0017	0.0114	0.0017	0.0016	0.0090	0.0081	0.0003	0	0.0026	0.0138	0	0.0002	0.0068	0.0017	0.0038	0.0114	0.282	0.19430	T	0.552	0.09393	T	0.065	0.37483	B	0.056	0.39069	B	0.000457	0.44317	D	0.198629	0.999991	0.81001	D	0.875	0.21512	L	1.65	0.38883	T	-2.25	0.50337	N	0.51	0.57946	-1.0627	0.11093	T	0.092	0.35119	T	10	0.009339243	0.00211	T	.	.	.	0.174	0.44019	.	.	0.716290961394	0.71379	0.6241017257502343	0.62343	0.0691000608039	0.07735	0.715855002403	0.69442	T	0.171879	0.52016	T	-0.361006	0.04073	T	-0.281941	0.46606	T	0.0231418284931443	0.01040	T	0.863414	0.55914	D	0.45513895	0.64367	0.37592888	0.62726	0.4375642	0.63245	0.43919477	0.67280	-9.413	0.70316	D	0.39480278463588137	0.48747	0.273	0.54529	B	.;.;.;.	.;.;.;.	3.637035	0.51552	23.1	0.996764475609072	0.78977	0.98797	0.86978	D	AEFI	0.909330	0.86581	D	0.186195066284451	0.50537	3.242698	0.36461638688929	0.59393	4.116746	0.99924527578784	0.38873	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.69	5.69	0.88346	8.800000	0.91521	.	.	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.990	0.79993	603	0.67726	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	1307.11	34	chr11	103236469	.	A	G	1307.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.33;DP=777;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=0.294;SOR=0.756	GT:AD:DP:GQ:PL	0/1:23,37:60:99:797,0,508	19	0	2	0
chr11	108512499	108512499	A	G	exonic	EXPH5	.	nonsynonymous SNV	EXPH5:NM_001144765:exon3:c.T2444C:p.I815T	Epidermolysis bullosa, nonspecific, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3252745	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.94	T	0.001	B	0.001	B	0.003	N	1.000	N	-0.205	N	4.32	T	-0.968	T	0.005	T	0.233	0.187	5.005	-11.8	-2.768	-3.849	4.361	0.040	0.0056293331433	.	.	0.0002	0	0.0002	0.0012	0	0.0001	0	0	0.0001229	19	154602	rs780651930	4.31e-05	4.309e-05	5.037e-05	3.576e-05	0.0007	3.443e-05	3.129e-05	0.0005	0.0005	2.987e-05	6.71e-05	0	0.0007	0	0	1.889e-05	3.312e-05	8.117e-05	5.251e-05	5.249e-05	7.708e-05	2.684e-05	0.0015	2.555e-05	1.828e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0	0.901	0.03280	T	1.0	0.03232	T	.	.	.	.	.	.	0.002688	0.00908	N	2.634170	1	0.08975	N	.	.	.	4.32	0.03951	T	1.13	0.01595	N	0.012	0.00527	-0.9682	0.37571	T	0.005	0.01651	T	10	0.006309837	0.00142	T	0.005629	0.14560	T	0.040	0.10527	0.283	0.23961	0.0138822411134	0.00435	0.03890706956159884	0.03836	0.0427411458927	0.04614	0.221317887306	0.01387	T	0.007673	0.07062	T	-0.657301	0.00065	T	-0.741571	0.03825	T	0.0171706512736073	0.00461	T	0.232477	0.03154	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00487	B	.;.;.;.	.;.;.;.	-3.236248	0.00006	0.001	0.24523665560911245	0.01088	0.01002	0.03790	N	AEFBI	0.033378	0.03945	N	-2.13670322309729	0.00106	0.004544318	-2.2090184231761	0.00107	0.004695115	0.999999999948789	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.54472	0.12158	0	0.542086	0.14980	0	.	.	5.91	-11.8	0.00026	-3.800000	0.00408	-10.796000	0.00665	-0.742000	0.03659	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3248:0.3115:0.2918:0.0719	4.361	0.10637	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2697.98	35	chr11	108512499	.	A	G	2697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.247;DP=1313;ExcessHet=0.0000;FS=1.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=0.569;SOR=0.815	GT:AD:DP:GQ:PL	0/1:108,102:210:99:2712,0,2964	20	0	1	0
chr11	114530556	114530556	C	T	exonic	NXPE1	.	nonsynonymous SNV	NXPE1:NM_152315:exon3:c.G26A:p.G9D	.	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.996	D	0.000	D	1.000	D	3.4	M	2.41	T	0.304	D	0.439	T	0.898	2.303	13.66	4.52	2.437	2.591	15.551	0.344	0.0533415575454	0.0011	0.000998403	0.0022	0.0008	0.0013	0.0001	0.0023	0.0021	0.0033	0.0053	0.0020957	324	154602	rs45596232	0.0023	0.0023	0.0021	0.0024	0.0054	0.0022	0.0022	0.0050	0.0048	0.0006	0.0007	0.0002	5.038e-05	0.0022	0.0005	0.0023	0.0024	0.0054	0.0018	0.0018	0.0018	0.0017	0.0054	0.0016	0.0015	0.0038	0.0032	0.0004	0	0.0006	0.0003	0	0.0014	0	0.0029	0.0014	0.0054	0.003	0.72154	D	0.005	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.000026	0.55875	D	0.000000	0.761404	0.34043	D	3.815	0.95518	H	2.0	0.55439	T	-5.77	0.91741	D	0.356	0.53884	0.304	0.87621	D	0.439	0.77790	T	10	0.027573705	0.00901	T	0.053342	0.65431	D	0.344	0.66582	.	.	0.426084969639	0.42228	0.4768514143664885	0.47605	0.15899387495	0.17942	0.556798815727	0.46816	T	0.345484	0.71386	T	-0.069784	0.41361	T	0.127937	0.78757	D	0.0736070285006818	0.09148	T	0.79972	0.44511	T	0.6672878	0.76288	0.6341599	0.78647	0.6672878	0.76289	0.6341599	0.78648	-11.522	0.82445	D	.	.	0.711	0.74312	P	.;.;.;.	.;.;.;.	2.815422	0.37074	20.4	0.99793172946789221	0.87839	0.46523	0.27779	N	AEFGBI	0.324886	0.42664	N	0.495428170657947	0.66822	5.000203	0.306265663874907	0.55906	3.753605	0.282194897614041	0.18999	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.52	4.52	0.54797	2.009000	0.40523	2.720000	0.34304	0.599000	0.40250	0.044000	0.21163	0.941000	0.28781	0.006000	0.07323	0.0:1.0:0.0:0.0	15.551	0.75890	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2145.98	34	chr11	114530556	.	C	T	2145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.609;DP=1551;ExcessHet=0.0000;FS=5.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.879;SOR=0.857	GT:AD:DP:GQ:PL	0/1:112,81:193:99:2160,0,3156	20	0	1	0
chr11	117918602	117918604	TGG	0	exonic	TMPRSS13	.	.	.	.	.	455	112	9	0	946	955	0.0386266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2892.83	147	chr11	117918602	.	TGG	T,*	2892.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4072;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=60.00;QD=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,115,77:192:99:1|0:117918597_CGGGCTGGAGATGCCT_C:7371,2428,2679,3340,0,2905:117918597	1	0	0	0
chr11	117918605	117918618	AGATGCCTGGGCTG	0	exonic	TMPRSS13	.	.	.	.	.	453	114	9	0	946	955	0.0379747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2883.83	147	chr11	117918605	.	AGATGCCTGGGCTG	A,*	2883.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4040;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=59.94;QD=1.03;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,115,77:192:99:1|0:117918597_CGGGCTGGAGATGCCT_C:7360,2428,2764,3330,0,2896:117918597	1	0	0	0
chr11	118956957	118956957	T	-	exonic	UPK2	.	frameshift deletion	UPK2:NM_006760:exon2:c.151delT:p.C51Vfs*10,	.	.	416	1101	4	1	0	6	0.00271739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	.	0.0008	0.0002	0.0008	0	0.0002	0.0008	0.0011	0.0016	0.0001153	3	26028	rs750295837	0.0013	0.0013	0.0013	0.0013	0.0015	0.0012	0.0012	0.0014	0.0014	0.0003	0.0003	0	0	0	0.0007	0.0014	0.0013	0.0015	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0004	0.0007	0.0006	0.0002	0	0.0003	0	0	9.409e-05	0.0034	0.0009	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1642.94	33	chr11	118956956	.	CT	C	1642.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.640e-01;DP=791;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.50;ReadPosRankSum=0.982;SOR=0.571	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1657,0,1920	20	0	1	0
chr11	123600478	123600478	C	G	exonic	GRAMD1B	.	nonsynonymous SNV	GRAMD1B:NM_001286564:exon7:c.C431G:p.T144S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.403	B	0.128	B	0.000	D	1.000	D	1.78	L	1.79	T	-1.056	T	0.106	T	0.53	3.048	16.17	5.73	2.696	5.998	19.891	0.121	0.00697488557153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.40068	T	0.157	0.92824	T	0.025	0.19245	B	0.013	0.16460	B	0.000000	0.84330	D	0.048965	0.999998	0.58761	D	.	.	.	1.78	0.33630	T	-2.88	0.66665	D	0.505	0.61087	-1.0557	0.12855	T	0.106	0.38587	T	10	0.36328462	0.52902	T	0.006975	0.18458	T	0.121	0.33580	0.433	0.48336	0.0675242888579	0.06100	0.8389768776895002	0.83857	1.02529329724	0.75255	0.76203763485	0.76233	T	0.097725	0.59242	T	-0.0559376	0.43538	T	-0.318127	0.42779	T	0.93644791841507	0.60545	D	0.90461	0.66442	D	0.31020585	0.53803	0.22864804	0.47913	0.31020585	0.53803	0.22864804	0.47912	-8.741	0.67536	D	.	.	0.877	0.81814	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.016935	0.59304	24.1	0.99209496487932602	0.55533	0.98003	0.78791	D	AEFBI	0.834871	0.75286	D	0.179194077642483	0.50201	3.212391	0.339800409405817	0.57896	3.957203	0.999999991249642	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.73	5.73	0.89730	6.139000	0.71482	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:1.0:0.0:0.0	19.891	0.96928	702	0.57624	GRAM domain;GRAM domain;GRAM domain;GRAM domain;.;GRAM domain;GRAM domain;.;GRAM domain;GRAM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	34.89	50	chr11	123600478	.	C	G	34.89	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.787e+00;DP=1170;ExcessHet=0.1072;FS=171.116;InbreedingCoeff=-0.0862;MLEAC=2;MLEAF=0.053;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=0.843;SOR=9.419	GT:AD:DP:GQ:PL	0/1:39,20:63:33:33,0,516	17	0	2	2
chr11	123883161	123883161	G	A	exonic	TMEM225	.	nonsynonymous SNV	TMEM225:NM_001013743:exon4:c.C655T:p.R219C	.	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.482	P	0.05	B	0.000	D	1.000	N	0.975	L	1.17	T	-1.026	T	0.052	T	0.544	1.342	10.41	2.98	1.225	1.234	7.407	0.175	0.00414493850515	.	0.000998403	0.0012	0.0003	0.0003	0	0	6.001e-05	0.0011	0.0085	0.0010479	162	154602	rs201383725	0.0006	0.0006	0.0003	0.0009	0.0091	0.0006	0.0006	0.0086	0.0084	2.992e-05	2.238e-05	0	0	0	0.0024	3.059e-05	0.0007	0.0091	0.0003	0.0003	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	0	0	0	0	0	7.352e-05	0	0.0070	0.002	0.72154	D	0.001	0.83351	D	.	.	.	.	.	.	0.000362	0.45194	D	0.000000	0.999999	0.08975	N	.	.	.	1.17	0.37910	T	-7.09	0.93950	D	0.258	0.29197	-1.0257	0.21853	T	0.052	0.22114	T	10	0.006457418	0.00146	T	0.004145	0.09931	T	0.175	0.44197	0.533	0.64148	0.082315109003	0.07666	0.17085404347730407	0.17005	0.174624828113	0.19662	0.419091820717	0.27712	T	.	.	.	-0.436273	0.01360	T	-0.392488	0.34261	T	0.167498312760511	0.18409	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.31381	B	.	.	3.361952	0.46415	22.3	0.95693108330412957	0.27572	0.02624	0.07210	N	AEFI	0.051674	0.09152	N	-0.596918522863486	0.19038	0.9932723	-0.673246039519624	0.17631	0.9383694	1.16492165728706E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	2.98	0.33575	1.273000	0.32724	1.854000	0.29277	0.676000	0.76740	0.009000	0.18154	0.012000	0.20211	0.001000	0.02609	0.1179:0.0:0.8821:0.0	7.407	0.26166	785	0.46916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	358.98	36	chr11	123883161	.	G	A	358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=719;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=0.960;SOR=0.527	GT:AD:DP:GQ:PL	0/1:21,14:35:99:373,0,535	20	0	1	0
chr11	129918644	129918644	G	C	exonic	PRDM10	.	nonsynonymous SNV	PRDM10:NM_001367898:exon10:c.C1851G:p.I617M	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.956	P	0.66	P	0.000	D	0.829	D	0.69	N	2.92	T	-1.025	T	0.027	T	0.345	3.392	17.45	4.86	1.408	3.010	6.133	0.056	0.00682036870865	.	0.000199681	0.0003	0	0	0	0	1.499e-05	0	0.0019	0.0002199	34	154602	rs545610604	0.0001	0.0001	6.942e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	8.993e-07	6.623e-05	0.0022	7.221e-05	7.217e-05	5.139e-05	9.397e-05	0.0023	3.968e-05	3.125e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.024	0.50132	D	0.1	0.39190	T	0.956	0.54666	P	0.66	0.52803	P	0.000079	0.52346	D	0.167749	0.828569	0.34883	D	0.55	0.14455	N	2.84	0.10771	T	-0.48	0.15379	N	0.446	0.56748	-1.0246	0.22214	T	0.027	0.11441	T	10	0.014993727	0.00315	T	0.00682	0.18037	T	0.056	0.15993	0.198	0.11110	0.128874641272	0.12493	0.5215638976136808	0.52079	1.01612100835	0.74962	0.629750967026	0.57109	T	.	.	.	-0.492829	0.00627	T	-0.487167	0.23687	T	0.0912060352355885	0.11360	T	0.940006	0.77758	D	.	.	.	.	.	.	.	.	-7.559	0.58827	D	.	.	0.099	0.16843	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.015484	0.59269	24.1	0.99515426652607564	0.68919	0.92832	0.56655	D	AEFDBI	0.462896	0.51204	N	0.0882935490702578	0.45917	2.840347	0.220377110578523	0.50980	3.284524	0.468953013784989	0.20690	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.79	4.86	0.62624	3.092000	0.49904	4.432000	0.43354	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0708:0.1356:0.653:0.1406	6.133	0.19432	825	0.40060	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1397.98	33	chr11	129918644	.	G	C	1397.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.015e+00;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=0.415;SOR=0.671	GT:AD:DP:GQ:PL	0/1:49,61:110:99:1412,0,1149	20	0	1	0
chr11	130428225	130428225	-	GCA	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insTGC:p.L21_P22insL,	.	.	0	41	77	64	44	249	0.714286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	8760.77	19	chr11	130428222	.	GGCA	G,GGCAGCA	8760.77	.	AC=21,6;AF=0.500,0.143;AN=42;BaseQRankSum=0.204;DP=554;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=21,6;MLEAF=0.500,0.143;MQ=60.00;MQRankSum=0.00;QD=28.54;ReadPosRankSum=0.132;SOR=0.702	GT:AD:DP:GQ:PL	1/2:0,5,7:12:99:446,289,279,163,0,155	3	7	5	0
chr12	366038	366038	G	A	exonic	KDM5A	.	nonsynonymous SNV	KDM5A:NM_001042603:exon4:c.C433T:p.R145C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	0.000	D	1.000	D	2.35	M	-0.1	T	-0.125	T	0.436	T	0.745	4.043	20.8	5.66	2.832	3.726	14.910	0.400	0.110793643816	8.4e-05	0.000199681	7.455e-05	0.0001	0.0003	0.0001	0	5.995e-05	0	0	6.47e-05	10	154602	rs200673994	3.969e-05	3.968e-05	4.085e-05	3.851e-05	0.0003	3.113e-05	2.847e-05	7.281e-05	5.16e-05	5.975e-05	0.0002	3.827e-05	0.0001	0	0.0003	3.508e-05	1.656e-05	1.159e-05	4.597e-05	4.594e-05	5.14e-05	4.029e-05	0.0002	2.108e-05	1.526e-05	3.244e-05	1.911e-05	9.627e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.96	0.70309	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.54	0.74080	M	-0.1	0.64264	T	-5.17	0.88431	D	0.562	0.58629	-0.1252	0.79513	T	0.436	0.77618	T	10	0.5793647	0.65761	D	0.110794	0.78832	D	0.400	0.71401	.	.	0.535666536456	0.53216	0.5966554343683101	0.59595	1.95920376204	0.93432	0.767359137535	0.77029	T	0.462663	0.79893	T	-0.00128821	0.51477	T	-0.0139251	0.69428	D	0.871105194091797	0.52100	D	0.970603	0.90119	D	0.56450737	0.70758	0.4938744	0.70727	0.56450737	0.70759	0.4938744	0.70727	-6.574	0.50854	T	.	.	0.128	0.43975	B	.;.	.;.	5.623976	0.92626	32	0.99922662907510251	0.98852	0.97197	0.73262	D	AEFBI	0.605867	0.59642	D	0.77200926572076	0.84329	8.25737	0.750481199624327	0.86195	8.811599	0.349305415812949	0.19666	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	2.675000	0.46541	11.734000	0.95055	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.8568:0.1432	14.910	0.70390	550	0.72197	ARID DNA-binding domain|ARID DNA-binding domain|ARID DNA-binding domain;ARID DNA-binding domain|ARID DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1555.98	36	chr12	366038	.	G	A	1555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e-01;DP=821;ExcessHet=0.0000;FS=2.246;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-9.760e-01;SOR=0.917	GT:AD:DP:GQ:PL	0/1:60,67:127:99:1570,0,1343	20	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.418	B	0.122	B	0.121	N	1.000	N	1.7	L	-0.07	T	-0.998	T	0.134	T	0.063	0.770	8.072	-2.7	-0.238	-0.480	5.450	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4735.5	83	chr12	4591261	.	G	C	4735.5	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.041e+00;DP=1832;ExcessHet=30.0624;FS=292.214;InbreedingCoeff=-0.7498;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=3.39;ReadPosRankSum=0.900;SOR=12.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,37:84:99:0|1:4591261_G_C:377,0,727:4591261	3	0	18	0
chr12	5044982	5044982	C	T	exonic	KCNA5	.	nonsynonymous SNV	KCNA5:NM_002234:exon1:c.C835T:p.R279C,	Atrial fibrillation, familial, 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2251173	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.023	B	0.018	B	.	.	0.992	N	1.545	L	-0.06	T	-0.843	T	0.193	T	0.294	1.205	9.894	3.87	1.226	-0.392	9.024	0.085	0.168846408637	.	.	6.626e-05	0	0	0	0	0	0.0011	0.0004	5.17e-05	8	154602	rs763439502	1.232e-05	1.368e-05	8.17e-06	1.651e-05	0.0002	7.7e-06	6.35e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	6.584e-06	6.568e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.054	0.47097	T	0.023	0.18885	B	0.018	0.18489	B	.	.	.	.	0.992159	0.23927	N	2.355	0.67662	M	-0.06	0.63568	T	-3.8	0.71762	D	0.558	0.58287	-0.8431	0.52440	T	0.193	0.54667	T	9	0.27820075	0.45389	T	0.168846	0.84683	D	0.085	0.24743	0.4	0.42917	0.703541663794	0.70096	0.8666820232062312	0.86633	1.2193180572	0.81043	0.735889732838	0.72368	T	0.821313	0.95634	D	-0.303833	0.08303	T	-0.378019	0.35955	T	0.443026463904225	0.30541	T	0.962604	0.86052	D	0.30696458	0.53522	0.34714442	0.60372	0.30696458	0.53522	0.34714442	0.60372	-8.748	0.66060	D	.	.	0.426	0.60973	A	.	.	2.456173	0.31631	18.80	0.99312630196579166	0.59055	0.18032	0.20091	N	AEFBI	0.247773	0.36829	N	-0.406583281520843	0.25238	1.368576	-0.336757898574932	0.26922	1.49035	0.0440509369142332	0.14595	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.542086	0.14980	0	.	.	4.77	3.87	0.43823	-0.225000	0.09156	0.720000	0.21004	0.524000	0.24156	0.000000	0.06391	0.188000	0.23474	0.102000	0.18378	0.2765:0.5838:0.1397:0.0	9.024	0.35382	680	0.59965	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3922.98	33	chr12	5044982	.	C	T	3922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.177;DP=1161;ExcessHet=0.0000;FS=4.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=0.735;SOR=0.899	GT:AD:DP:GQ:PL	0/1:157,151:308:99:3937,0,3981	20	0	1	0
chr12	5922652	5922652	G	A	exonic	ANO2	.	nonsynonymous SNV	ANO2:NM_001278596:exon2:c.C175T:p.P59S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.002	B	0.006	B	0.751	N	1.000	N	0.69	N	-0.01	T	-1.016	T	0.112	T	0.073	1.209	9.911	0.179	-0.084	-0.426	6.015	0.008	0.0151043780542	0.0002	.	0.0005	0.0011	0.0023	0	0	0	0	0.0009	8.41e-05	13	154602	rs371280202	6.134e-05	6.362e-05	3.665e-05	8.663e-05	0.0010	5.084e-05	4.688e-05	0.0008	0.0007	0.0001	0	0	0	0	0	9.225e-07	3.433e-05	0.0010	4.603e-05	4.598e-05	6.426e-05	2.693e-05	0.0002	2.111e-05	1.528e-05	6.293e-05	4.306e-05	0.0001	0	0	0	0	0	0	0	0	0.0002	0.756	0.03523	T	0.922	0.24193	T	.	.	.	.	.	.	0.751370	0.09697	N	0.830806	1	0.08975	N	.	.	.	-0.01	0.62762	T	0.29	0.04161	N	0.13	0.17553	-1.0156	0.25143	T	0.112	0.40075	T	10	0.01394105	0.00294	T	0.015104	0.35634	T	0.008	0.00669	.	.	0.0401082797425	0.02173	0.11310854304576118	0.11238	0.0594397015011	0.06608	0.2716165483	0.06353	T	0.082102	0.36751	T	-0.560495	0.00252	T	-0.628329	0.10541	T	0.00478437020803889	0.00051	T	0.468753	0.13831	T	.	.	.	.	.	.	.	.	-3.568	0.17395	T	.	.	0.069	0.03060	B	.;.;.	.;.;.	-0.146924	0.03372	0.602	0.92048317243695077	0.21391	0.06026	0.11993	N	AEFDBCI	0.047118	0.07899	N	-1.20245101539936	0.04964	0.2252183	-1.23238762734265	0.05397	0.2570497	0.0155752867684404	0.12730	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.508809	0.08732	0	.	.	3.48	0.179	0.14347	-0.899000	0.04209	-0.856000	0.07159	0.494000	0.22454	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.1244:0.4904:0.3852:0.0	6.015	0.18825	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1039.98	36	chr12	5922652	.	G	A	1039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=795;ExcessHet=0.0000;FS=13.435;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=0.899;SOR=2.215	GT:AD:DP:GQ:PL	0/1:43,35:78:99:1054,0,1108	20	0	1	0
chr12	6667913	6667918	TGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1187del:p.Q399_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:50,4,36,0,0:90:99:1245,1245,3509,0,1808,1765,1412,3373,1937,3477,1412,3373,1937,3477,3477	0	0	0	0
chr12	6667916	6667918	TGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1184del:p.Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:50,4,36,0,0:90:99:1245,1245,3509,0,1808,1765,1412,3373,1937,3477,1412,3373,1937,3477,3477	0	0	0	0
chr12	6667918	6667918	-	TGC	exonic	ZNF384	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1181_1182insGCA:p.Q400_P401insQ	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:50,4,36,0,0:90:99:1245,1245,3509,0,1808,1765,1412,3373,1937,3477,1412,3373,1937,3477,3477	0	0	0	0
chr12	6667904	6667918	TGCTGCTGCTGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1196del:p.Q396_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169898408	0.0003	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0004	0.0003	3.944e-05	0.0002	0	0.0004	0.0003	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0001	0.0006	0.0004	0.0002	0	0	0	0	0	0.0035	0.0003	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:50,4,36,0,0:90:99:1245,1245,3509,0,1808,1765,1412,3373,1937,3477,1412,3373,1937,3477,3477	0	0	0	0
chr12	6936749	6936749	-	CAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAG:p.Q502_H503insQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:56,0,0,17,0,0,0:73:99:0|1:6936728_ACAGCAGCAGCAGCAGCAGCAG_A:544,712,3054,712,3054,3054,0,2341,2341,2288,712,3054,3054,2341,3054,712,3054,3054,2341,3054,3054,712,3054,3054,2341,3054,3054,3054:6936728	1	0	2	0
chr12	6936749	6936749	-	CAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAG:p.Q502_H503insQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:56,0,0,17,0,0,0:73:99:0|1:6936728_ACAGCAGCAGCAGCAGCAGCAG_A:544,712,3054,712,3054,3054,0,2341,2341,2288,712,3054,3054,2341,3054,712,3054,3054,2341,3054,3054,712,3054,3054,2341,3054,3054,3054:6936728	1	0	2	0
chr12	6936747	6936749	CAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1480_1482del:p.Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:56,0,0,17,0,0,0:73:99:0|1:6936728_ACAGCAGCAGCAGCAGCAGCAG_A:544,712,3054,712,3054,3054,0,2341,2341,2288,712,3054,3054,2341,3054,712,3054,3054,2341,3054,3054,712,3054,3054,2341,3054,3054,3054:6936728	1	0	2	0
chr12	6936749	6936749	-	CAGCAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAGCAG:p.Q502_H503insQQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:56,0,0,17,0,0,0:73:99:0|1:6936728_ACAGCAGCAGCAGCAGCAGCAG_A:544,712,3054,712,3054,3054,0,2341,2341,2288,712,3054,3054,2341,3054,712,3054,3054,2341,3054,3054,712,3054,3054,2341,3054,3054,3054:6936728	1	0	2	0
chr12	6936741	6936749	CAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1474_1482del:p.Q500_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:56,0,0,17,0,0,0:73:99:0|1:6936728_ACAGCAGCAGCAGCAGCAGCAG_A:544,712,3054,712,3054,3054,0,2341,2341,2288,712,3054,3054,2341,3054,712,3054,3054,2341,3054,3054,712,3054,3054,2341,3054,3054,3054:6936728	1	0	2	0
chr12	7652818	7652818	C	T	exonic	APOBEC1	.	stopgain	APOBEC1:NM_001644:exon3:c.G62A:p.W21X	.	.	436	1079	7	0	0	7	0.00323326	.	.	2810158	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	.	.	.	.	0.113	N	1.000	A	.	.	.	.	.	.	.	.	.	1.904	12.33	3.58	1.016	0.272	8.511	.	.	0.0064	0.00219649	0.0062	0.0025	0.0012	0.0002	0.0032	0.0089	0.0011	0.0059	0.0062418	965	154602	rs34275479	0.0085	0.0084	0.0084	0.0085	0.0100	0.0084	0.0083	0.0098	0.0098	0.0015	0.0013	0.0026	5.083e-05	0.0025	0.0023	0.0100	0.0065	0.0061	0.0055	0.0055	0.0060	0.0051	0.0098	0.0052	0.0051	0.0092	0.0090	0.0019	0	0.0017	0.0032	0	0.0028	0	0.0098	0.0033	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	0.113049	0.19332	N	0.464573	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.85	0.84609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223117	0.76071	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.922061	0.95916	35	0.98165114254122043	0.38806	0.03616	0.08851	N	AEFI	0.438770	0.49802	N	0.41356687185524	0.62167	4.428339	0.118762397828414	0.45510	2.812796	2.87520441522825E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.48	3.58	0.40133	-0.019000	0.12487	1.997000	0.30104	0.599000	0.40250	0.002000	0.15269	1.000000	0.68203	0.525000	0.29590	0.0:0.8902:0.0:0.1098	8.511	0.32378	819	0.41190	Cytidine and deoxycytidylate deaminase 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	0.02381	1419.98	61	chr12	7652818	.	C	T	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.370e-01;DP=1131;ExcessHet=0.0000;FS=3.352;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.145;SOR=1.012	GT:AD:DP:GQ:PL	0/1:55,62:117:99:1434,0,1207	20	0	1	0
chr12	10450556	10450556	G	A	exonic	KLRC1	.	nonsynonymous SNV	KLRC1:NM_002259:exon3:c.C211T:p.L71F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.188	B	0.299	B	0.007	N	0.932	N	1.935	M	2.2	T	-1.024	T	0.058	T	0.331	0.334	5.809	0.681	0.008	-0.001	6.253	0.055	0.00141508426883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.841e-07	0	1.378e-06	9.022e-07	0	0	.	.	0	0	0	0	0	0	9.022e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29959	T	0.159	0.31833	T	0.023	0.29318	B	0.038	0.41006	B	0.006588	0.31929	N	0.147635	0.932098	0.27030	N	2.655	0.77738	M	2.2	0.18570	T	-2.6	0.55983	D	0.09	0.14338	-1.0241	0.22377	T	0.058	0.24428	T	10	0.07306573	0.10990	T	0.001415	0.02088	T	0.055	0.15663	0.435	0.48664	0.0762999501168	0.06990	0.18355798802211948	0.18274	0.0558337906702	0.06170	0.314549088478	0.12594	T	0.420332	0.77207	T	-0.219078	0.18118	T	-0.552467	0.17089	T	0.299999828032544	0.25004	T	0.623338	0.24114	T	0.07667325	0.17355	0.076360516	0.16904	0.07667325	0.17355	0.076360516	0.16903	-6.592	0.51138	T	.	.	0.099	0.16582	B	.;.;.;.;.	.;.;.;.;.	0.557630	0.09259	6.044	0.95869813873891929	0.28044	0.05248	0.11083	N	AEFDGI	0.093960	0.19004	N	-1.00571460951074	0.08485	0.3979927	-1.04643631548098	0.08781	0.4334551	5.26026630357321E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.7	0.681	0.17152	-0.101000	0.10943	-1.117000	0.06280	-1.508000	0.01019	0.012000	0.18695	0.000000	0.08366	0.003000	0.05239	0.1086:0.3592:0.5322:0.0	6.253	0.20064	865	0.32612	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1111	188.24	45	chr12	10450556	.	G	A	188.24	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.015e+00;DP=1153;ExcessHet=0.6776;FS=365.008;InbreedingCoeff=-0.1621;MLEAC=4;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=1.14;SOR=9.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,29:92:91:.:.:91,0,940	14	0	4	3
chr12	10930685	10930685	A	C	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.A124C:p.I42L,	.	.	422	1079	21	0	0	21	0.00963745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0.625	N	2.36	T	-0.945	T	0.018	T	0.2	-3.379	0.001	-1.81	-1.932	-0.871	3.420	0.006	0.00157848723934	.	.	0.0004	0.0021	0.0003	0.0001	0	0.0002	0.0011	0.0004	0.0017289	45	26028	rs2923234	0.0007	0.0030	0.0006	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0021	0.0010	0.0011	0.0005	0.0003	0.0002	0.0005	0.0010	0.0017	0.0031	0.0054	0.0033	0.0028	0.0061	0.0028	0.0027	0.0055	0.0052	0.0061	0	0.0016	0.0033	0.0002	0.0008	0	0.0021	0.0035	0.0030	0.532	0.06980	T	0.656	0.06598	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.36	0.16089	T	0.05	0.06369	N	0.164	0.17278	-0.9454	0.41748	T	0.018	0.07612	T	9	0.005495906	0.00121	T	0.001578	0.02523	T	0.006	0.00375	0.223	0.14665	0.043077524339	0.03247	0.031072521489905844	0.03056	1.57927069771	0.88367	0.282763034105	0.07881	T	.	.	.	-0.343694	0.05137	T	-0.731469	0.04261	T	0.00418809267600828	0.00045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00297	B	.;.	.;.	-1.403301	0.00358	0.006	0.21598653107946342	0.00830	0.00037	0.00318	N	AEFGI	0.019380	0.00667	N	-2.12225054748313	0.00114	0.004894974	-2.19931340376998	0.00112	0.004941841	0.847810366629689	0.24987	0.553676	0.25195	0	0.588015	0.36545	0	0.536957	0.11973	0	0.620846	0.47308	0	.	.	0.904	-1.81	0.07456	-1.135000	0.03337	-9.997000	0.00751	-2.508000	0.00261	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2436:0.5518:0.0:0.2046	3.420	0.06962	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	271.11	64	chr12	10930685	.	A	C	271.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=6.11;DP=1755;ExcessHet=0.1072;FS=63.162;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=49.89;MQRankSum=-5.021e+00;QD=0.96;ReadPosRankSum=0.656;SOR=6.220	GT:AD:DP:GQ:PL	0/1:130,15:145:99:182,0,3806	19	0	2	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C,	.	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.183	B	0.001	B	0.106	U	1.000	N	1.32	L	3.6	T	-0.962	T	0.014	T	0.144	0.202	5.089	-0.205	-0.048	0.062	4.703	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	1985.55	50	chr12	10930916	.	C	T	1985.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.28;DP=1409;ExcessHet=2.5830;FS=8.734;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=40.94;MQRankSum=-1.380e-01;QD=3.16;ReadPosRankSum=-4.690e-01;SOR=1.815	GT:AD:DP:GQ:PL	0/1:56,22:78:99:474,0,1790	14	0	7	0
chr12	11092088	11092088	G	0	exonic	TAS2R43	.	.	.	.	.	456	371	599	79	17	774	0.505003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5986.12	144	chr12	11092088	.	G	C,*	5986.12	.	AC=17,3;AF=0.405,0.071;AN=42;BaseQRankSum=-1.327e+00;DP=2170;ExcessHet=8.0185;FS=6.574;InbreedingCoeff=-0.3364;MLEAC=17,3;MLEAF=0.405,0.071;MQ=56.75;MQRankSum=-8.550e+00;QD=3.41;ReadPosRankSum=1.78;SOR=1.189	GT:AD:DP:GQ:PL	1/1:0,27,0:27:81:812,81,0,812,81,812	4	3	11	0
chr12	21805301	21805301	G	C	exonic	ABCC9	.	nonsynonymous SNV	ABCC9:NM_005691:exon40:c.C4523G:p.S1508C,	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.78	P	0.541	P	.	.	1.000	D	2.91	M	-1.63	D	0.499	D	0.642	D	0.726	4.371	23.1	5.06	1.517	9.233	15.023	0.746	0.107305408838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0035	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	0.0004	0	0.0001	5.056e-05	0	0	0.0005	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.037	0.51737	D	0.78	0.44271	P	0.541	0.48869	P	.	.	.	.	0.942115	0.81001	D	3.565	0.93411	H	-1.63	0.82440	D	-2.82	0.59545	D	0.861	0.85766	0.499	0.90534	D	0.642	0.87509	D	9	0.86013865	0.85229	D	0.107305	0.78332	D	0.746	0.91242	0.654	0.79172	0.938725009223	0.93809	.	.	.	.	.	.	.	0.837545	0.96181	D	0.236237	0.77305	D	0.101562	0.77011	D	0.965997040271759	0.67442	D	0.819018	0.47665	T	0.19674279	0.41513	0.22112092	0.46911	0.19674279	0.41513	0.22112092	0.46911	-8.375	0.63599	D	0.10600428853165336	0.08469	0.131	0.28319	B	.;.	.;.	3.249126	0.44386	21.9	0.99414692704072116	0.63453	0.99285	0.93953	D	AEFI	0.920507	0.89258	D	0.684879813253823	0.78641	6.912787	0.691786436055985	0.81756	7.601414	0.91949839964056	0.26603	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	5.06	0.67838	9.363000	0.96541	10.001000	0.83042	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8578:0.1422	15.023	0.71308	709	0.56835	ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1818	287.35	50	chr12	21805301	.	G	C	287.35	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-9.290e-01;DP=837;ExcessHet=0.6776;FS=112.828;InbreedingCoeff=-0.2768;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=1.56;ReadPosRankSum=1.14;SOR=9.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,5:44:89:.:.:89,0,1110	7	0	4	10
chr12	31096885	31096885	C	G	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon17:c.C1657G:p.Q553E	Warsaw breakage syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	738614	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.308	N	1.000	D	-1.02	N	0.52	T	-0.985	T	0.046	T	0.055	-1.134	0.114	1.61	0.167	2.182	11.725	0.104	.	.	0.00419329	0.0016	0	8.661e-05	0	0	0	0	0.0119	0.0014424	223	154602	rs535328861	0.0007	0.0007	0.0004	0.0011	0.0119	0.0007	0.0007	0.0112	0.0110	5.974e-05	0	0	0	0	0	1.799e-06	0.0007	0.0119	0.0005	0.0005	0.0003	0.0006	0.0139	0.0004	0.0003	0.0112	0.0103	0	0	0	0	0.0002	0	0	0	0.0005	0.0139	0.911	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.308354	0.14477	N	0.640102	0.999973	0.53665	D	.	.	.	0.52	0.55266	T	0.45	0.03521	N	0.016	0.01203	-0.9854	0.33735	T	0.046	0.19559	T	10	0.0039102137	0.00075	T	.	.	.	0.104	0.29647	0.279	0.23323	0.373357554552	0.36949	0.17296254033501568	0.17216	.	.	0.393704712391	0.24190	T	0.03212	0.22347	T	-0.610338	0.00126	T	-0.640089	0.09662	T	0.0134876423848534	0.00246	T	0.607439	0.22904	T	0.03411586	0.03767	0.05304818	0.08861	0.032011777	0.03147	0.057234958	0.10366	-3.155	0.14775	T	.	.	0.054	0.00563	B	.;.;.;.	.;.;.;.	0.205593	0.05897	2.338	0.13000344870223066	0.00243	0.10093	0.15693	N	AEFBI	0.042220	0.06523	N	-1.12800259156437	0.06150	0.2823119	-1.02710279601586	0.09191	0.4559098	3.46197715963069E-4	0.06626	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.56	1.61	0.22752	2.348000	0.43701	1.960000	0.29933	-0.385000	0.05372	0.992000	0.37556	0.166000	0.23302	0.003000	0.05239	0.0:0.2491:0.7509:0.0	11.725	0.50970	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1533.98	43	chr12	31096885	.	C	G	1533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.398e+00;DP=1202;ExcessHet=0.0000;FS=2.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=-1.054e+00;QD=11.36;ReadPosRankSum=-2.784e+00;SOR=0.490	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1548,0,2155	20	0	1	0
chr12	38316969	38316969	G	C	exonic	ALG10B	.	nonsynonymous SNV	ALG10B:NM_001013620:exon1:c.G76C:p.A26P	.	.	1	1489	31	1	0	33	0.0109598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.875	P	0.359	B	0.096	N	0.843	D	1.32	L	1.47	T	-0.940	T	0.090	T	0.753	2.557	14.51	3.64	2.309	1.777	11.129	0.119	0.00812542265035	0.0004	0.000599042	0.0010	9.61e-05	0.0004	0	0	0.0006	0.0011	0.0044	0.0008603	133	154602	rs138776092	0.0006	0.0006	0.0004	0.0007	0.0061	0.0005	0.0005	0.0045	0.0039	5.974e-05	0.0004	0.0031	0	3.744e-05	0.0061	0.0003	0.0011	0.0037	0.0005	0.0005	0.0004	0.0006	0.0029	0.0004	0.0004	0.0018	0.0014	2.408e-05	0	0.0013	0.0035	0	9.439e-05	0.0034	0.0004	0.0005	0.0029	0.262	0.17584	T	0.302	0.20680	T	0.875	0.48103	P	0.359	0.43123	B	0.096447	0.20075	N	0.550372	0.842872	0.35095	D	1.15	0.29295	L	1.47	0.46412	T	-1.64	0.39314	N	0.624	0.63883	-0.9401	0.42600	T	0.090	0.34518	T	10	0.0061244965	0.00138	T	0.008125	0.21521	T	0.119	0.33137	.	.	0.472663046089	0.46895	0.8018057571902771	0.80134	0.183546563352	0.20647	0.748672485352	0.74251	T	0.014684	0.12455	T	-0.305399	0.08160	T	-0.212299	0.53476	T	0.0333560584152689	0.02529	T	0.871313	0.57716	D	0.83190286	0.86035	0.785521	0.87368	0.83190286	0.86036	0.785521	0.87369	-7.359	0.56615	T	.	.	0.507	0.64884	A	.;.	.;.	4.292033	0.65461	24.8	0.98926935098986968	0.48676	0.17397	0.19819	N	ALL	0.492468	0.52910	N	0.0950935153286677	0.46233	2.86691	0.089204549299139	0.44002	2.690621	0.999999985739905	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	3.64	3.64	0.40864	1.643000	0.36833	5.126000	0.47622	0.575000	0.29119	0.348000	0.25742	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	11.129	0.47560	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2208.98	37	chr12	38316969	.	G	C	2208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.317e+00;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-9.280e-01;QD=12.48;ReadPosRankSum=0.609;SOR=0.670	GT:AD:DP:GQ:PL	0/1:83,94:177:99:2223,0,1976	20	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.374	B	0.326	B	0.000	D	1.000	D	0.86	L	-0.89	T	-0.602	T	0.322	T	0.754	2.842	15.47	5.39	2.533	4.151	19.172	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:40,0,15:55:86:0|1:39764776_G_A:86,202,1176,0,975,934:39764776	2	0	14	4
chr12	39764776	39764776	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528T:p.L510F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.722	P	0.519	P	0.000	D	1.000	D	1.98	M	-0.99	T	-0.129	T	0.446	T	0.785	3.086	16.31	5.39	2.533	4.151	19.172	0.489	0.0629985215375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.227	0.25362	T	0.722	0.42387	P	0.519	0.48163	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.99	0.75911	T	-1.75	0.41428	N	0.71	0.71321	-0.1290	0.79425	T	0.446	0.78221	T	10	0.69258845	0.71947	D	0.062999	0.68831	D	0.489	0.77656	0.527	0.63263	0.644369250691	0.64143	0.8989563015606465	0.89867	0.486330154237	0.47495	0.655019402504	0.60698	T	0.25826	0.62940	T	0.186182	0.72612	D	0.0296617	0.72257	D	0.980596303939819	0.73444	D	0.89551	0.63622	D	0.35904205	0.57762	0.30843896	0.56862	0.35904205	0.57763	0.30843896	0.56861	-11.185	0.80663	D	.	.	0.171	0.37633	B	.	.	4.277361	0.65129	24.8	0.99608861495682466	0.74694	0.91321	0.53298	D	AEFCI	0.719950	0.67067	D	0.487429499125516	0.66355	4.939395	0.535340465806759	0.70385	5.49735	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:40,0,15:55:86:0|1:39764776_G_A:86,202,1176,0,975,934:39764776	2	0	14	4
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.014	B	0.05	B	0.000	D	1.000	D	0.75	N	-1.01	T	-0.745	T	0.273	T	0.19	2.602	14.66	4.49	2.533	5.695	14.373	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	835.24	35	chr12	39764778	.	G	A	835.24	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-2.930e+00;DP=1096;ExcessHet=1.7912;FS=200.882;InbreedingCoeff=-0.2409;MLEAC=5;MLEAF=0.156;MQ=60.00;MQRankSum=0.00;QD=2.54;ReadPosRankSum=0.399;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,15:55:86:0|1:39764776_G_A:86,0,934:39764776	10	0	6	5
chr12	40479617	40479617	C	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	565	948	9	0	0	9	0.00472441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0638185984586	.	0.000798722	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs193276049	9.362e-05	6.156e-05	9.367e-05	9.357e-05	0.0018	7.619e-05	7.046e-05	0.0013	0.0011	0	0	0	0	0	0.0006	5.381e-05	0.0002	0.0018	0.0002	0.0002	0.0002	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	7.225e-05	0	0	0	0	0	0.0034	0.0001	0	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	13745.11	328	chr12	40479617	.	C	A	13745.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.49;DP=8363;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=-1.049e+00;SOR=0.638	GT:AD:DP:GQ:PL	0/1:226,225:451:99:6318,0,6173	19	0	2	0
chr12	40483015	40483015	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	481509.55	1118	chr12	40483015	.	A	G,*	481509.55	.	AC=32,2;AF=0.762,0.048;AN=42;BaseQRankSum=-3.082e+00;DP=19979;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=32,2;MLEAF=0.762,0.048;MQ=59.68;MQRankSum=0.00;QD=26.76;ReadPosRankSum=0.264;SOR=0.666	GT:AD:DP:GQ:PL	1/1:0,790,0:790:99:26121,2370,0,26121,2370,26121	1	12	6	0
chr12	40483068	40483068	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	356058.34	934	chr12	40483068	.	G	A,*	356058.34	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.01;DP=18690;ExcessHet=0.1361;FS=0.637;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=59.71;MQRankSum=0.00;QD=24.52;ReadPosRankSum=0.509;SOR=0.620	GT:AD:DP:GQ:PL	1/1:1,791,0:792:99:26773,2336,0,27056,2411,29981	4	9	7	0
chr12	40483220	40483220	T	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	543	941	36	2	0	40	0.0208117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0603377376754	.	0.00439297	.	.	.	.	.	.	.	.	0.0026894	70	26028	rs144440388	0.0013	0.0008	0.0013	0.0014	0.0111	0.0013	0.0013	0.0098	0.0093	0.0003	0.0020	0.0002	0.0066	0	0.0105	0.0011	0.0033	0.0111	0.0021	0.0021	0.0016	0.0025	0.0142	0.0019	0.0018	0.0115	0.0105	0.0003	0	0.0030	0	0.0097	0	0.0068	0.0018	0.0033	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	46855.92	623	chr12	40483220	.	T	A	46855.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=4.39;DP=15070;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=59.99;MQRankSum=0.991;QD=14.59;ReadPosRankSum=0.343;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:395,386:781:99:.:.:10235,0,10270	17	0	4	0
chr12	40485199	40485204	AGGACT	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	546	975	1	0	0	1	0.000512558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs1268064007	8.458e-06	0.0018	1.123e-05	5.232e-06	0.0011	3.52e-06	2.26e-06	1.24e-06	8.3e-07	6.361e-05	0.0011	0	0	0	0	5.284e-06	3.692e-05	0	4.116e-05	0.0031	2.672e-05	5.642e-05	0.0002	1.778e-05	1.17e-05	5.866e-05	3.095e-05	2.49e-05	0	0.0002	0	0	9.992e-05	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	741.07	713	chr12	40485198	.	AAGGACT	A	741.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.83;DP=15912;ExcessHet=0.1072;FS=28.910;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.56;MQRankSum=-3.034e+01;QD=0.43;ReadPosRankSum=-6.582e+00;SOR=4.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:856,67:923:99:0|1:40485198_AAGGACT_A:173,0,35631:40485198	19	0	2	0
chr12	40485210	40485210	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	548	972	1	0	1	2	0.000514139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1237855094	3.377e-05	0.0021	3.268e-05	3.503e-05	0.0124	2.317e-05	1.958e-05	0.0065	0.0048	6.784e-05	0.0124	0	0.0003	0	0	1.181e-05	0.0002	0	0.0003	0.0043	0.0002	0.0003	0.0021	0.0002	0.0002	0.0015	0.0013	0.0001	0	0.0021	0	0	0.0001	0	5.051e-05	0.0006	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1053	3792.02	713	chr12	40485210	.	A	G,AGTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	3792.02	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=6.72;DP=16027;ExcessHet=0.6776;FS=25.309;InbreedingCoeff=-0.1351;MLEAC=3,1;MLEAF=0.079,0.026;MQ=57.97;MQRankSum=-2.746e+01;QD=1.12;ReadPosRankSum=-6.528e+00;SOR=3.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:819,83,0:902:99:0|1:40485198_AAGGACT_A:713,0,33873,3195,34123,37318:40485198	15	0	3	2
chr12	40485210	40485210	-	GTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	548	972	1	0	1	2	0.000514139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3792.02	713	chr12	40485210	.	A	G,AGTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	3792.02	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=6.72;DP=16027;ExcessHet=0.6776;FS=25.309;InbreedingCoeff=-0.1351;MLEAC=3,1;MLEAF=0.079,0.026;MQ=57.97;MQRankSum=-2.746e+01;QD=1.12;ReadPosRankSum=-6.528e+00;SOR=3.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:819,83,0:902:99:0|1:40485198_AAGGACT_A:713,0,33873,3195,34123,37318:40485198	15	0	3	2
chr12	40485896	40485896	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs926758752	4.8e-06	4.652e-05	4.46e-06	5.197e-06	5.249e-06	1.12e-06	7.6e-07	1.23e-06	8.3e-07	0	0	0	0	0	0	5.249e-06	0	0	0.0003	0.0085	0.0002	0.0003	0.0019	0.0002	0.0002	0.0012	0.0010	5.788e-05	0.0014	0.0019	0	0.0013	0.0001	0	3.66e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2281.11	510	chr12	40485896	.	C	T	2281.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.596e+00;DP=18940;ExcessHet=0.1072;FS=2.086;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.45;MQRankSum=-3.304e+01;QD=1.03;ReadPosRankSum=-4.379e+00;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:983,114:1097:99:0|1:40485830_A_G:1828,0,40933:40485830	19	0	2	0
chr12	40485916	40485916	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1358597522	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.917e-05	0.0007	1.85e-05	1.987e-05	0.0003	3.18e-06	1.19e-06	.	.	0	0	0	0	0.0003	0.0002	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03846	980.62	510	chr12	40485916	.	G	T	980.62	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-1.234e+00;DP=18142;ExcessHet=0.0000;FS=5.002;InbreedingCoeff=-0.1351;MLEAC=1;MLEAF=0.038;MQ=58.50;MQRankSum=-3.297e+01;QD=0.90;ReadPosRankSum=-1.081e+01;SOR=1.396	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:996,95:1091:99:0|1:40485830_A_G:991,0,41536:40485830	12	0	1	8
chr12	40486087	40486087	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	558	957	7	0	0	7	0.00364394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1438207721	1.205e-06	0.0002	0	2.609e-06	1.316e-06	0	0	.	.	0	0	0	0	0	0	1.316e-06	0	0	0.0067	0.0083	0.0057	0.0078	0.0528	0.0064	0.0062	0.0496	0.0483	0.0020	0	0.0528	0	0.0110	0.0066	0	0.0006	0.0065	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	23855.3	510	chr12	40486087	.	A	G	23855.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.404e+00;DP=16199;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=59.05;MQRankSum=-1.733e+01;QD=5.67;ReadPosRankSum=-4.207e+00;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:844,227:1071:99:0|1:40486082_A_G:8107,0,34675:40486082	16	0	4	1
chr12	40486502	40486502	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.394e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	4774.24	813	chr12	40486502	.	G	T,*	4774.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.20;DP=21795;ExcessHet=0.6776;FS=6.160;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.61;MQRankSum=2.70;QD=0.89;ReadPosRankSum=-1.014e+01;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1131,223,0:1354:99:0|1:40486502_G_T:4788,0,33655,8176,34320,42497:40486502	17	0	1	0
chr12	40486502	40486502	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4774.24	813	chr12	40486502	.	G	T,*	4774.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.20;DP=21795;ExcessHet=0.6776;FS=6.160;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.61;MQRankSum=2.70;QD=0.89;ReadPosRankSum=-1.014e+01;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1131,223,0:1354:99:0|1:40486502_G_T:4788,0,33655,8176,34320,42497:40486502	17	0	1	0
chr12	40486506	40486506	A	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	0.3636	17694.52	872	chr12	40486506	.	A	C,T,*	17694.52	.	AC=1,4,3;AF=0.045,0.182,0.136;AN=22;BaseQRankSum=1.05;DP=22443;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=1,6,4;MLEAF=0.045,0.273,0.182;MQ=57.77;MQRankSum=1.58;QD=2.24;ReadPosRankSum=-2.416e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1182,0,221,0:1403:99:0|1:40486502_G_T:4552,8104,57168,0,49065,48405,8104,57168,49065,57168:40486502	3	0	1	10
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	17694.52	872	chr12	40486506	.	A	C,T,*	17694.52	.	AC=1,4,3;AF=0.045,0.182,0.136;AN=22;BaseQRankSum=1.05;DP=22443;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=1,6,4;MLEAF=0.045,0.273,0.182;MQ=57.77;MQRankSum=1.58;QD=2.24;ReadPosRankSum=-2.416e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1182,0,221,0:1403:99:0|1:40486502_G_T:4552,8104,57168,0,49065,48405,8104,57168,49065,57168:40486502	3	0	1	10
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	17618.27	872	chr12	40486507	.	G	C,*	17618.27	.	AC=5,3;AF=0.227,0.136;AN=22;BaseQRankSum=2.35;DP=22462;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=7,4;MLEAF=0.318,0.182;MQ=57.78;MQRankSum=1.47;QD=2.22;ReadPosRankSum=-2.460e+00;SOR=1.005	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1188,221,0:1409:99:0|1:40486502_G_T:4534,0,48556,8104,49216,57319:40486502	3	0	5	10
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	22747.23	860	chr12	40486514	.	G	A,*	22747.23	.	AC=7,2;AF=0.350,0.100;AN=20;BaseQRankSum=1.88;DP=22874;ExcessHet=4.7172;FS=5.882;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.550,0.150;MQ=58.09;MQRankSum=0.489;QD=2.52;ReadPosRankSum=-6.295e+00;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1223,178,0:1401:99:0|1:40486502_G_T:3607,0,49824,7287,50360,57647:40486502	1	0	7	11
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:1880,0,0,0:1881:99:.:.:1394,6323,84958,147,79125,78642,0,78967,78528,78420	4	0	6	1
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:1880,0,0,0:1881:99:.:.:1394,6323,84958,147,79125,78642,0,78967,78528,78420	4	0	6	1
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	47580.64	785	chr12	40487443	.	A	G,ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47580.64	.	AC=6,9;AF=0.167,0.250;AN=36;BaseQRankSum=-4.103e+00;DP=24007;ExcessHet=17.4423;FS=3.030;InbreedingCoeff=-0.6471;MLEAC=7,10;MLEAF=0.194,0.278;MQ=56.96;MQRankSum=-2.803e+01;QD=3.55;ReadPosRankSum=-2.836e+00;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:1844,0,55:1899:99:.:.:6163,1875,79651,0,75728,75400	3	0	6	3
chr12	40488222	40488222	A	0	exonic	MUC19	.	.	.	.	.	668	663	143	10	38	201	0.109469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	32216.33	821	chr12	40488222	.	A	G,*	32216.33	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=0.891;DP=14011;ExcessHet=3.7745;FS=5.226;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.219,0.063;MQ=58.53;MQRankSum=-1.512e+01;QD=4.86;ReadPosRankSum=-8.904e+00;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:471,380,0:851:99:0|1:40488222_A_G:11309,0,18641,12726,19676,32403:40488222	8	0	6	5
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	211896.28	821	chr12	40488224	.	A	G,T,*	211896.28	.	AC=18,2,2;AF=0.500,0.056,0.056;AN=36;BaseQRankSum=0.772;DP=14066;ExcessHet=0.3330;FS=0.000;InbreedingCoeff=0.0926;MLEAC=20,2,2;MLEAF=0.556,0.056,0.056;MQ=59.12;MQRankSum=0.00;QD=20.60;ReadPosRankSum=1.34;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:380,473,0,0:853:99:1|0:40488222_A_G:16722,0,11948,17759,13369,31128,17759,13369,31128,31128:40488222	3	6	5	3
chr12	40488231	40488231	G	0	exonic	MUC19	.	.	.	.	.	640	765	79	12	26	129	0.0630741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	25357.79	821	chr12	40488231	.	G	*,T	25357.79	.	AC=2,6;AF=0.056,0.167;AN=36;BaseQRankSum=0.517;DP=13285;ExcessHet=3.7745;FS=5.683;InbreedingCoeff=-0.2250;MLEAC=2,7;MLEAF=0.056,0.194;MQ=58.57;MQRankSum=-1.600e+01;QD=3.94;ReadPosRankSum=-8.076e+00;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:480,0,298:778:99:0|1:40488222_A_G:10110,11555,31710,0,20155,19288:40488222	10	0	2	3
chr12	40488234	40488234	A	0	exonic	MUC19	.	.	.	.	.	655	769	59	13	26	111	0.0523722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	21813.94	821	chr12	40488234	.	A	T,*	21813.94	.	AC=5,2;AF=0.139,0.056;AN=36;BaseQRankSum=3.22;DP=13121;ExcessHet=2.7391;FS=7.380;InbreedingCoeff=-0.1784;MLEAC=6,2;MLEAF=0.167,0.056;MQ=58.57;MQRankSum=-1.943e+01;QD=3.85;ReadPosRankSum=-8.512e+00;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:479,254,0:733:99:0|1:40488222_A_G:9224,0,19349,10665,20113,30779:40488222	11	0	5	3
chr12	40488244	40488244	G	0	exonic	MUC19	.	.	.	.	.	0	221	4	0	1	5	0.00896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	13676.28	821	chr12	40488244	.	G	A,*	13676.28	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=9.41;DP=12099;ExcessHet=1.1607;FS=4.938;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=58.35;MQRankSum=-1.233e+01;QD=3.77;ReadPosRankSum=-8.872e+00;SOR=1.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:460,186,0:646:99:0|1:40488244_G_A:6255,0,18756,7639,19315,26955:40488244	16	0	4	0
chr12	40488250	40488250	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	590	918	12	0	2	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1458586940	2.996e-05	0.0004	2.53e-05	3.537e-05	0.0125	1.96e-05	1.674e-05	0.0068	0.0052	0	0.0125	0	0.0009	0	0	5.951e-06	0.0001	0.0002	0.0039	0.0090	0.0031	0.0047	0.0330	0.0036	0.0035	0.0303	0.0292	0.0009	0	0.0330	0	0.0033	0.0043	0	0.0002	0.0051	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	9287.95	821	chr12	40488250	.	A	T,*	9287.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.25;DP=11746;ExcessHet=0.6776;FS=13.100;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=58.29;MQRankSum=-1.105e+01;QD=4.09;ReadPosRankSum=-8.702e+00;SOR=1.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:465,139,0:604:99:0|1:40488244_G_A:4437,0,19107,5837,19525,25362:40488244	17	0	3	0
chr12	40488250	40488250	A	0	exonic	MUC19	.	.	.	.	.	0	222	3	0	1	4	0.00671141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	9287.95	821	chr12	40488250	.	A	T,*	9287.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.25;DP=11746;ExcessHet=0.6776;FS=13.100;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=58.29;MQRankSum=-1.105e+01;QD=4.09;ReadPosRankSum=-8.702e+00;SOR=1.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:465,139,0:604:99:0|1:40488244_G_A:4437,0,19107,5837,19525,25362:40488244	17	0	3	0
chr12	40488252	40488252	A	0	exonic	MUC19	.	.	.	.	.	1	222	2	0	1	3	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	4982.98	821	chr12	40488252	.	A	G,*	4982.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=2.35;DP=11631;ExcessHet=0.7148;FS=49.965;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.48;MQRankSum=-8.793e+00;QD=2.32;ReadPosRankSum=-8.295e+00;SOR=4.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:456,91,0:547:99:0|1:40488244_G_A:2448,0,18873,3821,19147,22968:40488244	16	0	3	1
chr12	40488255	40488255	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	602	913	7	0	0	7	0.00381888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1488209478	9.531e-06	0.0003	7.591e-06	1.179e-05	0.0063	3.96e-06	2.55e-06	0.0025	0.0016	0	0.0063	0	0.0003	0	0	1.488e-06	0	0	0.0031	0.0084	0.0026	0.0037	0.0275	0.0029	0.0028	0.0248	0.0238	0.0007	0	0.0275	0	0.0031	0.0031	0	0.0002	0.0034	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3447.98	821	chr12	40488255	.	G	T,*	3447.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=1.94;DP=11556;ExcessHet=0.6776;FS=44.354;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.40;MQRankSum=-8.042e+00;QD=1.64;ReadPosRankSum=-7.804e+00;SOR=5.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:458,77,0:535:99:0|1:40488244_G_A:1855,0,19000,3233,19231,22465:40488244	16	0	3	1
chr12	40488255	40488255	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3447.98	821	chr12	40488255	.	G	T,*	3447.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=1.94;DP=11556;ExcessHet=0.6776;FS=44.354;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.40;MQRankSum=-8.042e+00;QD=1.64;ReadPosRankSum=-7.804e+00;SOR=5.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:458,77,0:535:99:0|1:40488244_G_A:1855,0,19000,3233,19231,22465:40488244	16	0	3	1
chr12	40488256	40488256	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3060.98	821	chr12	40488256	.	T	A,*	3060.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=10.51;DP=11535;ExcessHet=0.6776;FS=41.825;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.40;MQRankSum=-8.249e+00;QD=1.47;ReadPosRankSum=-7.647e+00;SOR=5.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:456,74,0:530:99:0|1:40488244_G_A:1735,0,18925,3107,19147,22255:40488244	16	0	3	1
chr12	40488262	40488262	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	600	919	3	0	0	3	0.00162955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1243397229	0	7.332e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0010	0.0054	0.0009	0.0012	0.0092	0.0009	0.0008	0.0078	0.0073	0.0002	0	0.0092	0	0.0009	0.0010	0	6.866e-05	0.0011	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	1682.68	821	chr12	40488262	.	A	G	1682.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=5.90;DP=11357;ExcessHet=0.3300;FS=47.936;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=57.93;MQRankSum=-8.349e+00;QD=1.14;ReadPosRankSum=-7.960e+00;SOR=8.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:450,58:508:99:0|1:40488244_G_A:1081,0,18721:40488244	18	0	3	0
chr12	40490286	40490286	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	595	902	19	0	6	25	0.0104224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186244381	1.359e-06	0.0003	2.527e-06	0	6.872e-05	0	0	.	.	6.872e-05	0	0	0	0	0	0	0	0	0.0003	0.0084	0.0002	0.0003	0.0018	0.0002	0.0002	0.0011	0.0009	0.0001	0.0016	0.0018	0	0.0009	0.0001	0	4.372e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	666.72	777	chr12	40490286	.	C	T	666.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-5.846e+00;DP=17211;ExcessHet=0.3300;FS=3.772;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=52.62;MQRankSum=-1.049e+01;QD=0.38;ReadPosRankSum=-1.430e-01;SOR=1.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:796,62:858:99:0|1:40490286_C_T:181,0,33110:40490286	17	0	3	1
chr12	40490287	40490287	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	589	899	19	0	15	34	0.0104568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314271449	1.355e-06	0.0003	2.518e-06	0	6.852e-05	0	0	.	.	6.852e-05	0	0	0	0	0	0	0	0	0.0002	0.0076	0.0002	0.0003	0.0014	0.0002	0.0001	0.0009	0.0007	9.404e-05	0.0015	0.0014	0	0.0006	0.0001	0	5.854e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	669.72	777	chr12	40490287	.	A	G	669.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-4.922e+00;DP=17206;ExcessHet=0.3300;FS=1.632;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=52.61;MQRankSum=-6.204e+00;QD=0.38;ReadPosRankSum=-2.000e-01;SOR=0.870	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:793,62:1005:99:0|1:40490286_C_T:181,0,33150:40490286	17	0	3	1
chr12	40490978	40490978	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	551	935	33	1	2	37	0.0183727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0025742	67	26028	rs144654701	0.0014	0.0008	0.0014	0.0014	0.0116	0.0013	0.0013	0.0103	0.0097	0.0003	0.0021	0.0002	0.0067	0	0.0107	0.0011	0.0034	0.0116	0.0020	0.0020	0.0016	0.0025	0.0139	0.0018	0.0018	0.0112	0.0102	0.0003	0	0.0030	0	0.0094	0	0.0068	0.0018	0.0033	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	33680.3	582	chr12	40490978	.	G	A	33680.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=2.26;DP=13328;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=59.56;MQRankSum=-3.345e+00;QD=12.86;ReadPosRankSum=0.453;SOR=0.714	GT:AD:DP:GQ:PL	0/1:302,346:648:99:9414,0,8358	16	0	4	1
chr12	52286359	52286359	C	T	exonic	KRT81	.	nonsynonymous SNV	KRT81:NM_002281:exon9:c.G1414A:p.G472S,	Monilethrix, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.124	B	0.025	B	0.074	U	0.991	N	0.69	N	-1.64	D	-0.672	T	0.322	T	0.306	2.211	13.35	4.33	2.118	0.495	8.676	0.183	0.103449997895	.	0.00159744	0.0016	0	0	0	0	0.0001	0	0.0038	0.0003622	56	154602	rs551755048	0.0003	0.0003	0.0002	0.0004	0.0044	0.0003	0.0003	0.0040	0.0039	0	2.769e-05	0	0	0	0.0002	5.551e-05	0.0003	0.0044	0.0002	0.0002	2.569e-05	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	4.81e-05	0	0	0	0	0	0	0	0.0005	0.0048	0.091	0.31834	T	0.119	0.36101	T	0.124	0.26825	B	0.025	0.20508	B	0.073595	0.21337	U	0.233853	0.990701	0.41217	D	0.445	0.12748	N	-1.64	0.82533	D	-0.24	0.10833	N	0.165	0.27792	-0.6722	0.61729	T	0.322	0.69090	T	10	0.0046119094	0.00096	T	0.10345	0.77749	D	0.183	0.45592	0.394	0.41935	0.40146981186	0.39757	0.05507913896772271	0.05448	0.373452143324	0.38813	0.22821007669	0.01838	T	0.020475	0.16118	T	-0.383666	0.02953	T	-0.325042	0.42019	T	0.0272337755853705	0.01577	T	0.669833	0.27843	T	0.02936082	0.02419	0.039100446	0.03927	0.02450666	0.01289	0.042376343	0.05030	-3.343	0.14298	T	.	.	0.076	0.05979	B	.;.	.;.	0.823809	0.11949	8.512	0.94559127418461941	0.25082	0.13056	0.17638	N	AEFDBHCI	0.061191	0.11680	N	-0.691073757863794	0.16275	0.8277246	-0.677347844844905	0.17527	0.9324072	0.999999972794379	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.33	4.33	0.51083	0.100000	0.15067	.	.	0.450000	0.21304	0.000000	0.06391	0.001000	0.17328	0.006000	0.07323	0.0:0.8919:0.0:0.1081	8.676	0.33343	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1379.98	34	chr12	52286359	.	C	T	1379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.555;DP=843;ExcessHet=0.0000;FS=1.581;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=1.52;SOR=0.783	GT:AD:DP:GQ:PL	0/1:50,54:104:99:1394,0,1253	20	0	1	0
chr12	52316545	52316545	G	A	exonic	KRT83	.	nonsynonymous SNV	KRT83:NM_002282:exon6:c.C964T:p.R322C,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.977	D	0.001	N	0.891	D	1.46	L	-2.47	D	0.468	D	0.696	D	0.433	2.793	15.30	2.92	1.901	0.048	7.490	0.545	0.205327744427	7.7e-05	0.00119808	0.0004	0	0	0	0	1.499e-05	0	0.0030	0.0003622	56	154602	rs145387028	0.0001	0.0001	8.848e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0017	0	0	0	2.519e-05	0	0	9.892e-06	0.0002	0.0020	9.862e-05	9.844e-05	5.143e-05	0.0001	0.0027	6.01e-05	4.882e-05	0.0016	0.0013	0	0	0	0	0	0	0	2.942e-05	0	0.0027	0.003	0.68238	D	0.113	0.36901	T	0.999	0.77913	D	0.977	0.73820	D	0.001023	0.40562	N	0.000000	0.890921	0.35951	D	.	.	.	-2.47	0.88997	D	-4.37	0.77061	D	0.486	0.52029	0.468	0.90089	D	0.696	0.89503	D	10	0.018409401	0.00400	T	0.205328	0.86979	D	0.545	0.81077	.	.	0.793988113507	0.79207	0.09489732771148295	0.09421	0.468642469395	0.46202	0.458818137646	0.33148	T	0.345811	0.71415	T	-0.269756	0.11784	T	-0.16612	0.57798	T	0.169984915282516	0.18579	T	0.842016	0.51794	T	0.29289332	0.52260	0.26872277	0.52744	0.29289332	0.52260	0.26872277	0.52743	-6.129	0.47346	T	0.2449854675904513	0.33183	0.132	0.28377	B	.	.	4.526214	0.71015	25.6	0.99909593193157575	0.97949	0.14538	0.18456	N	AEFGBI	0.136246	0.25684	N	0.150820760015705	0.48852	3.092308	0.0386682285124326	0.41529	2.496392	0.789561314137073	0.23991	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.89	2.92	0.32998	-0.068000	0.11519	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.0:0.1263:0.5541:0.3196	7.490	0.26625	713	0.56348	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4459.98	39	chr12	52316545	.	G	A	4459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=3286;ExcessHet=0.0000;FS=0.407;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=-9.300e-01;SOR=0.649	GT:AD:DP:GQ:PL	0/1:148,171:319:99:4474,0,3515	20	0	1	0
chr12	52434189	52434189	C	T	exonic	KRT75	.	nonsynonymous SNV	KRT75:NM_004693:exon1:c.G116A:p.R39H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.011	B	0.002	B	0.036	N	1.000	N	1.585	L	-1.66	D	-0.760	T	0.376	T	0.158	0.326	5.770	-0.378	-0.367	-0.144	11.616	0.141	0.0493273102866	0.0002	0.000399361	0.0003	0	0	0.0001	0	0	0	0.0028	0.0002846	44	154602	rs143818894	0.0001	0.0001	9.826e-05	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	8.976e-05	2.246e-05	0	0.0001	0	0.0002	6.312e-06	0.0003	0.0020	7.88e-05	7.874e-05	5.14e-05	0.0001	0.0019	4.494e-05	3.51e-05	0.0010	0.0007	4.813e-05	0	0	0	0	0	0	1.47e-05	0	0.0019	0.091	0.31834	T	0.115	0.36630	T	0.011	0.15914	B	0.002	0.06944	B	0.035766	0.24603	N	0.348277	0.999589	0.20930	N	1.705	0.44259	L	-1.66	0.82715	D	-2.27	0.50666	N	0.102	0.08506	-0.7598	0.57416	T	0.376	0.73408	T	10	0.0071029663	0.00162	T	0.049327	0.63763	D	0.141	0.37795	.	.	0.232513804876	0.22884	0.3020058916341324	0.30113	0.109607046255	0.12361	0.230933874846	0.02038	T	0.281143	0.65386	T	-0.41593	0.01817	T	-0.375779	0.36215	T	0.0223205357431508	0.00945	T	0.209279	0.02517	T	0.041426156	0.06099	0.048019756	0.07045	0.041426156	0.06099	0.048019756	0.07044	-8.344	0.63391	D	.	.	0.112	0.22024	B	.	.	1.023592	0.14032	10.60	0.93817742159161688	0.23797	0.12570	0.17349	N	AEFDGBI	0.088135	0.17868	N	-1.19790209568339	0.05032	0.2284513	-1.22930614771923	0.05445	0.2594304	0.999907456616253	0.45458	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.74	-0.378	0.11875	0.172000	0.16518	.	.	-0.800000	0.03169	0.006000	0.17386	0.906000	0.28050	0.021000	0.11733	0.0:0.5523:0.0:0.4477	11.616	0.50348	743	0.52768	Keratin type II head	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1039.98	39	chr12	52434189	.	C	T	1039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.498;DP=835;ExcessHet=0.0000;FS=0.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-5.490e-01;SOR=0.900	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1054,0,883	20	0	1	0
chr12	52571381	52571381	A	G	exonic	KRT74	.	nonsynonymous SNV	KRT74:NM_175053:exon4:c.T821C:p.F274S,	Woolly hair, autosomal dominant, Autosomal dominant	.	0	1504	18	0	0	18	0.00594845	.	.	102652	KRT74-related_disorder|Ectodermal_dysplasia_7,_hair/nail_type|not_provided|Ectodermal_dysplasia_4,_hair/nail_type	.|MONDO:MONDO:0013975,MedGen:C3554117,OMIM:614929,Orphanet:69084|MedGen:C3661900|MONDO:MONDO:0011177,MedGen:CN029917,OMIM:602032,Orphanet:69084	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.978	D	0.002	N	1.000	D	4.22	H	-2.93	D	1.083	D	0.922	D	0.922	4.651	25.6	4.73	2.060	9.248	14.947	0.960	.	0.0002	0.0175719	0.0116	0.0002	0.0004	0.0002	0	4.498e-05	0.0066	0.0840	0.009974	1542	154602	rs147962513	0.0049	0.0049	0.0028	0.0071	0.0781	0.0048	0.0048	0.0765	0.0759	0.0002	0.0002	0	0.0001	0	0.0038	7.569e-05	0.0052	0.0781	0.0028	0.0028	0.0013	0.0043	0.0855	0.0026	0.0025	0.0787	0.0760	0.0001	0	0.0001	0	0.0002	0	0	1.47e-05	0.0009	0.0855	0.013	0.53900	D	0.004	0.74150	D	0.998	0.73220	D	0.978	0.74104	D	0.002366	0.36688	N	0.000000	0.999566	0.47592	D	3.515	0.92918	H	-2.93	0.91800	D	-7.7	0.95634	D	0.278	0.50958	1.083	0.98977	D	0.922	0.97419	D	10	0.0077126324	0.00175	T	.	.	.	0.960	0.99376	.	.	.	.	0.34882152857766446	0.34796	0.504986622322	0.48759	0.549992620945	0.45856	T	0.752111	0.93215	D	0.0947146	0.63715	D	0.424963	0.92895	D	0.193740564689868	0.20062	T	0.747125	0.36767	T	0.75828004	0.81352	0.8513202	0.91592	0.818031	0.85089	0.8785231	0.93458	-10.082	0.74401	D	0.6061861159698078	0.67348	0.763	0.75613	P	.;.	.;.	5.223431	0.87673	29.3	0.99890925558465327	0.96513	0.99790	0.99484	D	AEFDBI	0.916529	0.88286	D	1.00549666222198	0.95911	14.09542	0.885450939200027	0.94905	13.14317	0.999997295064442	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.73	4.73	0.59485	9.318000	0.95450	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.947	0.70688	851	0.35303	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;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	1	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2232.98	33	chr12	52571381	.	A	G	2232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=848;ExcessHet=0.0000;FS=0.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.99;ReadPosRankSum=0.591;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,61:149:99:0|1:52571381_A_G:2247,0,3444:52571381	20	0	1	0
chr12	52949315	52949315	G	C	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon1:c.G142C:p.V48L	Cirrhosis, cryptogenic, Autosomal recessive	.	400	768	347	0	7	354	0.18428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.65	P	0.223	B	0.138	N	1.000	N	2.865	M	-1.57	D	-0.406	T	0.471	T	0.427	2.081	12.91	0.954	0.219	-0.441	7.665	0.446	0.210614070419	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359140246	6.957e-07	0.0003	0	1.399e-06	3.037e-05	0	0	.	.	3.037e-05	0	0	0	0	0	0	0	0	0.0011	0.0092	0.0010	0.0012	0.0024	0.0010	0.0009	0.0013	0.0012	0.0003	0.0024	0.0008	0.0021	0	0.0016	0	0.0015	0.0016	0.0024	0.187	0.21385	T	0.404	0.14818	T	0.519	0.40644	P	0.111	0.37929	B	0.138376	0.18380	N	0.416972	1	0.81001	D	2.265	0.64440	M	-1.57	0.82347	D	-1.0	0.26422	N	0.082	0.05799	-0.4056	0.71850	T	0.471	0.79663	T	10	0.083414674	0.13874	T	0.210614	0.87261	D	0.446	0.74797	0.415	0.45380	0.860313002099	0.85896	0.7160274570190178	0.71545	0.531599379089	0.50652	0.573910236359	0.49230	T	0.147259	0.48525	T	0.0174853	0.54042	T	-0.21266	0.53441	T	0.265387445688248	0.23549	T	0.0516948	0.00385	T	0.047216356	0.08035	0.043877922	0.05557	0.047216356	0.08035	0.043877922	0.05557	-4.986	0.36687	T	0.2609872102591527	0.35238	0.319	0.56786	B	.;.;.	.;.;.	0.909457	0.12836	9.352	0.95101178256288821	0.26176	0.54699	0.29680	D	AEFDBHCI	0.804658	0.72946	D	-0.508296202011104	0.21811	1.160241	-0.604811601927955	0.19369	1.038886	0.999992841170832	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	3.79	0.954	0.18719	-0.106000	0.10860	.	.	-0.227000	0.07798	0.000000	0.06391	0.005000	0.19230	0.311000	0.24761	0.3008:0.0:0.6992:0.0	7.665	0.27595	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	15089.32	89	chr12	52949315	.	G	A,C	15089.32	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.47;DP=1835;ExcessHet=54.0936;FS=3.984;InbreedingCoeff=-1.0000;MLEAC=20,1;MLEAF=0.476,0.024;MQ=56.35;MQRankSum=-9.015e+00;QD=8.31;ReadPosRankSum=-4.930e-01;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:65,9,15:89:99:.:.:527,238,2912,0,2444,2662	0	0	20	0
chr12	54531560	54531560	G	C	exonic	NCKAP1L	.	nonsynonymous SNV	NCKAP1L:NM_001184976:exon24:c.G2524C:p.A842P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.005	B	0.012	B	0.002	N	0.994	D	0.83	L	1.44	T	-1.099	T	0.051	T	0.317	2.513	14.36	4.79	2.657	4.066	11.409	0.059	0.00528426266792	.	.	4.121e-05	0	0.0002	0	0	1.499e-05	0	0.0001	3.88e-05	6	154602	rs573490699	4.857e-05	4.857e-05	4.356e-05	5.363e-05	0.0003	3.926e-05	3.604e-05	0.0002	0.0001	0	4.472e-05	0	0	0	0	3.957e-05	4.967e-05	0.0003	3.285e-05	3.283e-05	1.285e-05	5.38e-05	0.0004	1.261e-05	7.98e-06	7.285e-05	3.027e-05	2.413e-05	0	0.0001	0	0	0	0	0	0	0.0004	0.168	0.23450	T	0.187	0.28764	T	0.005	0.12996	B	0.012	0.16012	B	0.002335	0.36766	N	0.217757	0.993918	0.42096	D	1.01	0.25309	L	1.44	0.32722	T	-1.98	0.45769	N	0.199	0.21969	-1.0991	0.04202	T	0.051	0.21844	T	10	0.13698354	0.26061	T	0.005284	0.13494	T	0.059	0.16972	0.669	0.80703	0.0934897674506	0.08844	0.6404329607726851	0.63978	0.571821750903	0.53292	0.571662604809	0.48914	T	0.31702	0.68851	T	-0.345731	0.05001	T	-0.442246	0.28557	T	0.0340281299024333	0.02643	T	0.687031	0.29593	T	0.44359243	0.63633	0.38845733	0.63689	0.44359243	0.63634	0.38845733	0.63689	-7.639	0.58659	D	.	.	0.128	0.27252	B	.;.	.;.	3.546529	0.49836	22.8	0.99492055242244182	0.67516	0.95263	0.64045	D	AEFGBI	0.866066	0.78537	D	-0.084146198658965	0.38086	2.225437	0.0967477254710982	0.44384	2.721265	0.999910794280972	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.79	4.79	0.60909	4.554000	0.60470	5.714000	0.49438	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.1824:0.8175:0.0	11.409	0.49159	722	0.55239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1892.98	34	chr12	54531560	.	G	C	1892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=0.137;SOR=0.645	GT:AD:DP:GQ:PL	0/1:66,73:139:99:1907,0,1650	20	0	1	0
chr12	55400566	55400566	T	A	exonic	OR6C65	.	nonsynonymous SNV	OR6C65:NM_001005518:exon1:c.T38A:p.L13Q,	.	.	463	1058	1	0	0	1	0.000472367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.552	P	0.297	B	0.199	U	1.000	N	2.63	M	6.01	T	-0.999	T	0.003	T	0.374	1.521	11.04	2.99	0.712	0.382	8.447	0.075	.	7.7e-05	0.00259585	0.0028	0	0.0257	0	0	7.056e-05	0	0.0001	0.0024256	375	154602	rs12424958	0.0007	0.0008	0.0008	0.0006	0.0242	0.0007	0.0007	0.0228	0.0223	0.0003	0.0242	0	2.563e-05	9.699e-05	0	3.787e-05	0.0011	0.0002	0.0026	0.0026	0.0018	0.0034	0.0243	0.0024	0.0023	0.0223	0.0215	0.0003	0	0.0243	0	0.0006	0	0	0.0001	0.0014	0.0002	0.02	0.49613	D	0.06	0.45744	T	0.552	0.38158	P	0.297	0.40924	B	0.198607	0.16658	U	0.330447	1	0.08975	N	2.04	0.55661	M	6.01	0.00602	T	-4.49	0.78046	D	0.383	0.42443	-0.9990	0.30199	T	0.003	0.01092	T	10	0.0065965354	0.00149	T	.	.	.	0.075	0.21907	.	.	0.0611884634855	0.05136	0.05957477579447645	0.05897	0.170627185086	0.19233	0.239717155695	0.02765	T	0.108544	0.42167	T	-0.526181	0.00405	T	-0.510346	0.21279	T	0.0342462936018793	0.02679	T	0.831917	0.49916	T	0.3877447	0.59871	0.3490638	0.60537	0.3877447	0.59872	0.3490638	0.60536	-8.322	0.63244	D	.	.	0.097	0.15654	B	.	.	1.957861	0.24871	16.56	0.94803468321625683	0.25556	0.07083	0.13109	N	AEFGBI	0.063966	0.12395	N	-0.404951835241145	0.25295	1.37207	-0.558971071053081	0.20567	1.108715	2.24419591076321E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.17	2.99	0.33673	0.183000	0.16729	.	.	0.420000	0.20791	0.001000	0.13787	0.000000	0.08366	0.036000	0.13842	0.3103:0.0:0.0:0.6897	8.447	0.32008	797	0.45241	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	777.98	33	chr12	55400566	.	T	A	777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.980e+00;DP=826;ExcessHet=0.0000;FS=1.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.94;ReadPosRankSum=-1.735e+00;SOR=0.901	GT:AD:DP:GQ:PL	0/1:63,35:98:99:792,0,1796	20	0	1	0
chr12	55427175	55427175	-	A	exonic	OR6C76	.	frameshift insertion	OR6C76:NM_001005183:exon1:c.922dupA:p.H312Tfs*2,	.	.	20	137	43	12	14	81	0.196481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3673.16	49	chr12	55427174	.	CA	C,CAA	3673.16	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.114;DP=906;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3243;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.243;SOR=0.727	GT:AD:DP:GQ:PL	0/1:17,13,0:30:99:274,0,369,325,408,732	11	0	9	0
chr12	56315184	56315184	C	A	exonic	CNPY2	.	nonsynonymous SNV	CNPY2:NM_001190991:exon2:c.G34T:p.G12W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.929	P	0.473	P	0.184	N	0.863	N	-0.345	N	.	.	-1.100	T	0.050	T	0.558	3.449	17.68	4.18	1.520	1.696	11.788	0.157	0.00323979356799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.077	0.34095	T	0.189	0.28669	T	0.929	0.51690	P	0.175	0.35598	B	0.183792	0.17031	N	0.631849	0.863233	0.28323	N	0.345	0.11182	N	.	.	.	-0.72	0.31170	N	0.448	0.48596	-1.1004	0.04043	T	0.050	0.21104	T	9	0.22609055	0.39456	T	0.00324	0.07147	T	0.157	0.40909	0.415	0.45380	0.39619538035	0.39233	0.858144188404497	0.85777	0.535265842492	0.50902	0.710354208946	0.68645	T	0.038411	0.24828	T	-0.0180931	0.49124	T	-0.263766	0.48447	T	0.581660270690918	0.35682	D	0.771723	0.41194	T	0.13630119	0.31601	0.14374483	0.34151	0.13630119	0.31601	0.14374483	0.34150	-5.382	0.40746	T	.	.	0.385	0.58738	A	.;.;.;.;.	.;.;.;.;.	3.849898	0.55766	23.7	0.98230247081667055	0.39387	0.35066	0.25215	N	AEFDGBCI	0.596325	0.59054	D	-0.1127041375136	0.36839	2.134864	-0.0333034438575397	0.38221	2.248737	0.999999999207515	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.07	4.18	0.48473	1.805000	0.38520	7.687000	0.65600	0.599000	0.40250	0.790000	0.29595	1.000000	0.68203	0.995000	0.73285	0.0:0.9144:0.0:0.0856	11.788	0.51324	294	0.88270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1333.98	33	chr12	56315184	.	C	A	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.167e+00;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-3.810e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/1:50,60:110:99:1348,0,1206	20	0	1	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	B	0.014	B	.	.	1.000	N	.	.	0.86	T	-1.034	T	0.064	T	0.05	0.296	5.604	0.899	-0.131	1.411	4.156	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	801.6	63	chr12	56716773	.	G	C	801.6	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-3.814e+00;DP=1566;ExcessHet=6.1002;FS=143.092;InbreedingCoeff=-0.3330;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=1.05;ReadPosRankSum=0.671;SOR=10.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,14:93:63:.:.:63,0,1648	11	0	10	0
chr12	56720170	56720170	T	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001113203:exon3:c.A1360G:p.T454A	.	.	.	.	.	.	.	.	.	.	.	3324107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.004	B	0.003	B	.	.	1.000	N	0	N	1.07	T	-1.035	T	0.056	T	0.053	1.059	9.325	-1.47	-0.201	-2.158	3.906	0.011	0.005340095254	.	.	8.314e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs766398764	3.421e-06	3.42e-06	1.361e-06	5.501e-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	1.316e-05	1.314e-05	1.286e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.017	0.55530	D	0.137	0.33894	T	0.004	0.12183	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.79	0.49068	T	0.02	0.06739	N	0.047	0.01911	-1.0351	0.18825	T	0.056	0.23413	T	9	0.04221037	0.02949	T	0.00534	0.13679	T	0.011	0.01250	0.293	0.25560	0.0551355673512	0.04727	0.032722456671023734	0.03220	0.0203370685723	0.01996	0.250692397356	0.03841	T	0.073563	0.34727	T	-0.407531	0.02064	T	-0.726312	0.04497	T	0.0673094973138311	0.08269	T	0.184182	0.01901	T	0.03939044	0.05430	0.046045233	0.06331	0.03939044	0.05430	0.046045233	0.06330	-3.35	0.14391	T	.	.	0.074	0.05231	B	.;.	.;.	-0.957615	0.00834	0.028	0.43302007950133758	0.03251	0.01464	0.04890	N	AEFDBCI	0.021327	0.00937	N	-1.18996003326826	0.05152	0.2341474	-1.23190968094148	0.05405	0.25742	0.999929899416928	0.46280	0.489673	0.17934	0	0.516746	0.08562	0	0.759307	0.98198	0	0.491896	0.07777	0	.	.	3.44	-1.47	0.08312	-1.160000	0.03258	-7.492000	0.01145	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.191000	0.21631	0.0:0.464:0.2254:0.3106	3.906	0.08684	45	0.97767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1027.98	63	chr12	56720170	.	T	C	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.26;DP=1348;ExcessHet=0.0000;FS=1.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.258;SOR=0.771	GT:AD:DP:GQ:PL	0/1:59,39:98:99:1042,0,1505	20	0	1	0
chr12	57763698	57763698	-	GGGTGGG	exonic	CYP27B1	.	frameshift insertion	CYP27B1:NM_000785:exon8:c.1325_1326insCCCACCC:p.F443Pfs*24,	Vitamin D-dependent rickets, type I, Autosomal recessive	.	6	1515	1	0	0	1	0.000329924	.	.	264701	Vitamin_D-dependent_rickets,_type_1A|Vitamin_D-dependent_rickets,_type_1|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0020723,MedGen:CN283242,OMIM:264700|MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0012	0.0008	0.0002	0.0002	0.0011	0.0002	3.84e-05	1	26028	rs780950819	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0.0004	3.91e-05	0.0002	1.917e-05	0	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	0.0001	0.0004	0.0003	4.899e-05	0	0.0002	0	0.0010	0	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	618.94	33	chr12	57763698	.	T	TGGGTGGG	618.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.37;DP=842;ExcessHet=0.0000;FS=82.618;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.01;ReadPosRankSum=-2.407e+00;SOR=6.183	GT:AD:DP:GQ:PL	0/1:82,21:103:99:633,0,3367	20	0	1	0
chr12	57765022	57765022	A	C	exonic	CYP27B1	.	nonsynonymous SNV	CYP27B1:NM_000785:exon4:c.T779G:p.M260R,	Vitamin D-dependent rickets, type I, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	2795185	Vitamin_D-dependent_rickets,_type_1A|not_provided	MONDO:MONDO:0020723,MedGen:CN283242,OMIM:264700|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.994	D	0.968	D	0.000	D	1.000	D	1.24	L	2.68	T	-0.272	T	0.367	T	0.951	4.255	22.2	4.89	2.056	8.540	13.615	0.749	0.177764706137	.	.	8.381e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs752696414	6.842e-07	6.84e-07	1.362e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.72224	D	0.994	0.66517	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	-0.35	0.68616	T	-4.29	0.76414	D	0.916	0.91852	-0.2723	0.75750	T	0.367	0.72742	T	10	0.84472066	0.83634	D	0.177765	0.85311	D	0.749	0.91371	0.706	0.84236	0.95296664669	0.95246	0.9885819533402649	0.98852	1.64295023885	0.89391	0.757340431213	0.75534	T	0.690665	0.91003	D	0.283651	0.81627	D	0.266522	0.86404	D	0.98850154876709	0.78827	D	0.734827	0.42806	T	0.968684	0.98137	0.93274367	0.97283	0.968684	0.98137	0.93274367	0.97283	-12.782	0.88445	D	0.5834737287425094	0.65029	0.907	0.83252	P	.;.	.;.	6.245146	0.94869	34	0.98703011001037089	0.44939	0.97999	0.78758	D	AEFDGBCI	0.957534	0.97677	D	0.658478366352148	0.76919	6.575922	0.659523272039407	0.79323	7.057906	1.0	0.98316	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.89	4.89	0.63387	8.824000	0.91650	11.201000	0.89033	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.615	0.61574	182	0.92924	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3089.98	40	chr12	57765022	.	A	C	3089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=987;ExcessHet=0.0000;FS=0.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=1.31;SOR=0.618	GT:AD:DP:GQ:PL	0/1:126,123:249:99:3104,0,3211	20	0	1	0
chr12	57810378	57810378	C	A	exonic	AVIL	.	nonsynonymous SNV	AVIL:NM_006576:exon6:c.G732T:p.Q244H,	.	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.951	D	0.000	D	0.993	D	1.935	M	1.6	T	-0.986	T	0.134	T	0.375	3.252	16.91	2.33	0.774	0.317	8.284	0.119	.	.	0.00219649	0.0019	9.612e-05	8.642e-05	0	0	4.496e-05	0.0022	0.0138	0.0016559	256	154602	rs553704153	0.0009	0.0009	0.0005	0.0013	0.0149	0.0009	0.0009	0.0142	0.0139	0	0	0	0	0	0	7.194e-06	0.0008	0.0149	0.0005	0.0005	0.0002	0.0009	0.0170	0.0004	0.0004	0.0140	0.0129	0	0	0	0	0	0	0	0	0	0.0170	0.059	0.37536	T	0.182	0.29249	T	0.99	0.63424	D	0.894	0.63417	P	0.000002	0.62929	D	0.062217	0.992705	0.41719	D	2.455	0.71248	M	1.6	0.28604	T	-2.77	0.58733	D	0.236	0.26596	-0.9864	0.33494	T	0.134	0.44700	T	10	0.0045081675	0.00093	T	.	.	.	0.119	0.33137	0.313	0.28774	0.392239652056	0.38839	0.4858277189055344	0.48502	0.114269200615	0.12884	0.371850579977	0.21098	T	0.47864	0.80838	T	-0.47916	0.00748	T	-0.450026	0.27695	T	0.14904947594138	0.17027	T	0.693931	0.30359	T	0.22551382	0.45214	0.20115821	0.44081	0.22551382	0.45214	0.20115821	0.44080	-6.569	0.50816	T	0.33912104432035944	0.43694	0.152	0.33710	B	.	.	3.053401	0.40982	21.3	0.99599399067747163	0.74101	0.37034	0.25669	N	AEFGBCI	0.269338	0.38563	N	-0.0145458003384868	0.41197	2.459923	-0.119999220196825	0.34584	1.991036	0.956089929611213	0.28227	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.19	2.33	0.27981	0.404000	0.20722	0.486000	0.18854	-0.202000	0.08738	0.036000	0.20778	0.997000	0.33255	0.927000	0.46353	0.0:0.6769:0.0:0.3231	8.284	0.31075	197	0.92378	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2702.11	33	chr12	57810378	.	C	A	2702.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.200e-02;DP=910;ExcessHet=0.1072;FS=6.789;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=0.204;SOR=1.059	GT:AD:DP:GQ:PL	0/1:57,59:116:99:1455,0,1348	19	0	2	0
chr12	70353915	70353915	A	-	exonic	CNOT2	.	nonframeshift deletion	CNOT2:NM_001199303:exon16:c.1623delA:p.X541X	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/2:6,2,5,0:13:46:79,46,186,0,57,59,91,169,89,200	3	0	8	0
chr12	70353915	70353915	-	A	exonic	CNOT2	.	nonframeshift insertion	CNOT2:NM_001199303:exon16:c.1623dupA:p.X541delinsX	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/2:6,2,5,0:13:46:79,46,186,0,57,59,91,169,89,200	3	0	8	0
chr12	88079219	88079219	C	T	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon39:c.G5237A:p.R1746Q,	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	YES	5	1461	53	3	0	59	0.019792	.	.	131794	Joubert_syndrome_5|not_provided|Kidney_disorder|Leber_congenital_amaurosis|Meckel_syndrome,_type_4|Bardet-Biedl_syndrome_14|Leber_congenital_amaurosis_10|Senior-Loken_syndrome_6|Retinal_dystrophy|not_specified|Nephronophthisis|Familial_aplasia_of_the_vermis|Meckel-Gruber_syndrome	MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|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:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.74	T	0.466	P	0.048	B	0.000	D	1.000	D	-0.345	N	0.0	T	-0.460	T	0.241	T	0.394	3.209	16.75	4.28	2.590	2.734	5.178	0.372	.	0.0073	0.0113818	0.0119	0.0024	0.0052	0.0070	0.0017	0.0082	0.0058	0.0441	0.0107696	1665	154602	rs61941020	0.0099	0.0100	0.0089	0.0109	0.0403	0.0098	0.0097	0.0392	0.0387	0.0018	0.0052	0.0065	0.0060	0.0029	0.0211	0.0085	0.0121	0.0403	0.0071	0.0071	0.0068	0.0074	0.0430	0.0068	0.0066	0.0381	0.0363	0.0017	0	0.0098	0.0055	0.0084	0.0025	0.0137	0.0080	0.0091	0.0430	0.221	0.18889	T	0.275	0.22016	T	0.466	0.36465	P	0.048	0.24975	B	0.000002	0.62929	D	0.056184	0.732881	0.33738	D	1.61	0.41143	L	0.0	0.91478	T	0.11	0.05917	N	0.078	0.28028	-0.4601	0.70064	T	0.241	0.60929	T	10	0.0040839016	0.00080	T	.	.	.	0.372	0.69102	.	.	.	.	0.13677737081922756	0.13601	0.0587496926462	0.06521	0.46582710743	0.34108	T	0.113382	0.43038	T	-0.258765	0.13044	T	-0.112339	0.62424	T	0.0160605788174674	0.00385	T	0.891311	0.62583	D	0.053998865	0.10300	0.056384906	0.10063	0.05842994	0.11753	0.064280845	0.12861	-3.233	0.12888	T	0.2024184062002529	0.26922	0.114	0.27252	B	.;.;.	.;.;.	3.444251	0.47929	22.5	0.99851851418650239	0.93102	0.66180	0.32989	D	AEFBI	0.129836	0.24816	N	-0.208458088981086	0.32787	1.852941	-0.00546298069500753	0.39467	2.340608	0.952729764345514	0.28032	0.732398	0.92422	0	0.653731	0.59785	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.19	4.28	0.50183	2.760000	0.47262	1.427000	0.26414	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.7111:0.0:0.2889	5.178	0.14473	876	0.30350	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	1348.11	27	chr12	88079219	.	C	T	1348.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.98;DP=624;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.44;ReadPosRankSum=2.26;SOR=0.596	GT:AD:DP:GQ:PL	0/1:10,31:41:99:844,0,140	19	0	2	0
chr12	88106877	88106877	G	A	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon25:c.C2615T:p.S872L,	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	956981	not_provided|Nephronophthisis|Familial_aplasia_of_the_vermis|Meckel-Gruber_syndrome|Leber_congenital_amaurosis_10|Bardet-Biedl_syndrome_14|Senior-Loken_syndrome_6|Meckel_syndrome,_type_4|Joubert_syndrome_5|Leber_congenital_amaurosis|Intellectual_disability|CEP290-related_disorder	MedGen:C3661900|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|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|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|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|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:CN239314	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.32	T	0.837	P	0.236	B	0.005	N	1.000	D	0.895	L	2.03	T	-1.109	T	0.039	T	0.249	3.085	16.30	5.89	2.782	5.834	16.501	0.067	0.00719299478929	0.0003	0.000399361	0.0004	0.0001	0	0.0003	0	0.0003	0	0.0010	0.0002329	36	154602	rs373341530	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0012	0.0011	2.999e-05	6.86e-05	0	0.0002	0	0	0.0002	0.0002	0.0014	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	7.234e-05	0	0.0002	0	0.0002	0	0	0.0004	0	0.0021	0.043	0.41364	D	0.039	0.51112	D	0.837	0.46346	P	0.236	0.38470	B	0.005391	0.32840	N	0.293216	0.598506	0.81001	D	1.7	0.43825	L	2.03	0.20959	T	-2.65	0.56787	D	0.22	0.24758	-1.1092	0.03139	T	0.039	0.16720	T	10	0.029752225	0.01101	T	0.007193	0.19061	T	0.067	0.19503	.	.	0.445210270852	0.44144	0.2065769744502968	0.20573	0.0702682139411	0.07872	0.360459089279	0.19453	T	0.363886	0.72956	T	-0.433712	0.01408	T	-0.446214	0.28114	T	0.0840953545292668	0.10502	T	0.926307	0.72903	D	0.19218196	0.40878	0.17543435	0.40009	0.19218196	0.40877	0.17543435	0.40008	-7.057	0.54449	T	0.20738423840517686	0.27717	0.089	0.18122	B	.;.;.	.;.;.	4.205414	0.63487	24.6	0.99795565500591166	0.88106	0.97462	0.74905	D	AEFBI	0.709356	0.66347	D	0.282194196185829	0.55244	3.688746	0.397394384090183	0.61403	4.340043	0.999908331550125	0.45458	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.89	5.89	0.94758	5.947000	0.69957	11.844000	0.97886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.1307:0.8693:0.0	16.501	0.84103	876	0.30350	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1885.98	34	chr12	88106877	.	G	A	1885.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.110e+00;DP=866;ExcessHet=0.0000;FS=3.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=-8.620e-01;SOR=0.456	GT:AD:DP:GQ:PL	0/1:84,78:162:99:1900,0,2139	20	0	1	0
chr12	95787321	95787321	G	A	exonic	NTN4	.	nonsynonymous SNV	NTN4:NM_001329700:exon2:c.C203T:p.T68M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.93	P	0.436	B	0.049	N	0.998	N	1.1	L	-0.99	T	-0.730	T	0.278	T	0.238	2.811	15.36	4.88	1.439	2.462	10.791	0.222	0.0514050968633	.	.	1.648e-05	0	0	0.0001	0	1.499e-05	0	0	1.29e-05	2	154602	rs749560184	1.231e-05	1.231e-05	9.528e-06	1.513e-05	0.0002	7.7e-06	6.35e-06	6.51e-05	4.449e-05	0	0	0	0.0002	0	0	4.496e-06	6.623e-05	3.478e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.029	0.45756	D	0.085	0.42086	T	0.93	0.51791	P	0.436	0.45556	B	0.049147	0.23187	N	0.470192	0.997809	0.22499	N	1.04	0.26193	L	-0.99	0.75911	T	-1.02	0.30346	N	0.168	0.24634	-0.7297	0.58979	T	0.278	0.65017	T	10	0.14392477	0.27321	T	0.051405	0.64647	D	0.222	0.51872	0.486	0.56939	0.531923830949	0.52841	0.29885488615444494	0.29798	0.631368366302	0.57095	0.331256240606	0.15124	T	0.150479	0.61009	T	-0.256714	0.13287	T	-0.314379	0.43187	T	0.125622923601934	0.14972	T	0.873613	0.58243	D	0.0738272	0.16523	0.09299517	0.21943	0.0738272	0.16523	0.09299517	0.21943	-3.545	0.18759	T	.	.	0.077	0.12132	B	.;.;.;.;.	.;.;.;.;.	2.990042	0.39914	21.1	0.99825195997958793	0.90764	0.55147	0.29791	D	AEFDBCI	0.444606	0.50143	N	-0.0889278494946659	0.37877	2.210077	-0.125498496961015	0.34365	1.975967	0.999999999909062	0.74766	0.722319	0.85440	0	0.627178	0.54094	0	0.401104	0.06395	2	0.735409	0.98432	0	.	.	5.77	4.88	0.63131	2.178000	0.42148	5.741000	0.49573	0.676000	0.76740	0.032000	0.20554	0.993000	0.31925	0.306000	0.24642	0.1441:0.0:0.8559:0.0	10.791	0.45635	835	0.38313	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal;.;.;.;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2019.98	35	chr12	95787321	.	G	A	2019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.921;DP=896;ExcessHet=0.0000;FS=2.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=-3.470e-01;SOR=0.912	GT:AD:DP:GQ:PL	0/1:89,78:167:99:2034,0,2263	20	0	1	0
chr12	96504012	96504012	A	-	exonic	CFAP54	.	frameshift deletion	CFAP54:NM_001306084:exon3:c.550delA:p.T185Lfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	969.94	34	chr12	96504011	.	TA	T	969.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.403;DP=786;ExcessHet=0.0000;FS=2.066;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.105e+00;SOR=0.460	GT:AD:DP:GQ:PL	0/1:39,35:74:99:984,0,1088	20	0	1	0
chr12	102958405	102958405	-	GCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCA:p.Q62_A63insQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:12,9,0,0,0:21:99:313,0,426,349,453,802,349,453,802,802,349,453,802,802,802	6	1	11	0
chr12	102958405	102958405	-	GCAGCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCAGCA:p.Q62_A63insQQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:12,9,0,0,0:21:99:313,0,426,349,453,802,349,453,802,802,349,453,802,802,802	6	1	11	0
chr12	102958403	102958405	GCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.159_161del:p.Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:12,9,0,0,0:21:99:313,0,426,349,453,802,349,453,802,802,349,453,802,802,802	6	1	11	0
chr12	102958394	102958405	GCAGCAGCAGCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.150_161del:p.Q59_Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	254390	not_specified|Phenylketonuria	MedGen:CN169374|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416400102	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0007	0.0021	0.0019	0.0025	0.0008	0.0058	0.0008	0	0.0012	0.0005	0.0013	0.0019	0.0015	0.0015	0.0013	0.0016	0.0029	0.0013	0.0013	0.0025	0.0023	0.0029	0	0.0012	0.0069	0.0004	0	0	0.0007	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:12,9,0,0,0:21:99:313,0,426,349,453,802,349,453,802,802,349,453,802,802,802	6	1	11	0
chr12	103638039	103638039	A	G	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon8:c.A733G:p.I245V,	.	.	.	.	.	.	.	.	.	.	.	3485226	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.001	B	0.007	B	0.024	N	1.000	N	-0.345	N	3.19	T	-0.987	T	0.008	T	0.05	-1.812	0.009	-4.5	-1.478	-0.193	8.295	0.025	0.00154783517101	.	.	0.0002	0	0.0002	0	0	1.5e-05	0.0033	0.0009	0.0001488	23	154602	rs529434792	7.6e-05	7.593e-05	6.947e-05	8.26e-05	0.0005	6.429e-05	6.01e-05	0.0004	0.0003	0	0	0	0	0	0.0002	5.221e-05	0.0002	0.0005	4.597e-05	4.593e-05	1.285e-05	8.056e-05	0.0006	2.108e-05	1.526e-05	0.0002	9e-05	0	0	0	0	0	0	0	5.882e-05	0	0.0006	0.456	0.08839	T	1.0	0.01155	T	0.001	0.07471	B	0.007	0.12992	B	0.023673	0.26399	N	0.376000	1	0.08975	N	-1.25	0.00764	N	3.19	0.07353	T	0.57	0.02638	N	0.19	0.20793	-0.9868	0.33396	T	0.008	0.02884	T	10	0.038753748	0.02316	T	0.001548	0.02445	T	0.025	0.05312	0.512	0.61000	0.0666544352282	0.05500	0.1861233389481513	0.18530	0.0664678907798	0.07414	0.287515759468	0.08561	T	0.049556	0.28342	T	-0.657138	0.00065	T	-0.802215	0.01848	T	0.0473112531073463	0.05021	T	0.283372	0.04986	T	0.018519897	0.00373	0.037221048	0.03330	0.018519897	0.00373	0.037221048	0.03330	-3.025	0.10453	T	.	.	0.069	0.03162	B	.	.	-1.549053	0.00267	0.004	0.24768143707884835	0.01111	0.00533	0.02466	N	AEFGBI	0.036334	0.04825	N	-1.5064428633663	0.01807	0.07919745	-1.51543225379108	0.02225	0.1020146	4.74619566647728E-4	0.07095	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.38	-4.5	0.03247	-0.307000	0.08206	-3.607000	0.02661	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.431000	0.27472	0.5898:0.1134:0.2967:0.0	8.295	0.31138	862	0.33134	EGF domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2173.98	33	chr12	103638039	.	A	G	2173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.863;DP=869;ExcessHet=0.0000;FS=2.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.919;SOR=0.956	GT:AD:DP:GQ:PL	0/1:78,82:160:99:2188,0,2027	20	0	1	0
chr12	106843900	106843900	G	A	exonic	RIC8B	.	nonsynonymous SNV	RIC8B:NM_001330146:exon5:c.G1066A:p.E356K	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.992	D	0.711	P	0.000	D	1.000	D	1.195	L	0.8	T	-1.015	T	0.145	T	0.83	4.804	27.1	5.51	2.583	7.734	13.684	0.219	0.0338189461304	7.7e-05	.	8.242e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs373445717	1.71e-05	1.71e-05	1.225e-05	2.2e-05	4.637e-05	1.174e-05	9.92e-06	1.583e-05	9.3e-06	2.987e-05	0	0	0	0	0	1.709e-05	1.656e-05	4.637e-05	3.956e-05	3.943e-05	3.863e-05	4.053e-05	6.569e-05	1.72e-05	1.133e-05	1.172e-05	6.25e-06	4.845e-05	0	6.569e-05	0	0	0	0	4.414e-05	0	0	0.007	0.59928	D	0.244	0.24123	T	0.992	0.64738	D	0.711	0.54536	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.155	0.29575	L	0.8	0.48769	T	-1.39	0.35792	N	0.635	0.65416	-1.0146	0.25464	T	0.145	0.46768	T	10	0.4388925	0.57972	T	0.033819	0.55248	D	0.219	0.51417	.	.	0.335916738318	0.33200	0.5732562847627387	0.57254	1.39510571996	0.85073	0.851890683174	0.89899	D	0.010	0.19675	T	0.0884395	0.63012	D	-0.0138851	0.69430	D	0.796423554420471	0.46112	D	0.966903	0.87955	D	0.3798113	0.59303	0.33876213	0.59650	0.3798113	0.59303	0.33876213	0.59650	-11.297	0.87538	D	.	.	0.876	0.81236	P	.;.;.;.	.;.;.;.	5.566761	0.92187	32	0.99923168052027167	0.98917	0.98093	0.79538	D	AEFBI	0.822133	0.74253	D	0.474483777122033	0.65603	4.843525	0.545256231572262	0.71067	5.598874	0.999998716583867	0.74766	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.51	5.51	0.81769	7.930000	0.87066	9.934000	0.82603	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.074:0.0:0.926:0.0	13.684	0.61985	405	0.82444	Synembryn;Synembryn;.;Synembryn	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1357.98	37	chr12	106843900	.	G	A	1357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=908;ExcessHet=0.0000;FS=1.419;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=0.959;SOR=0.818	GT:AD:DP:GQ:PL	0/1:71,56:127:99:1372,0,1612	20	0	1	0
chr12	109999768	109999768	A	G	exonic	ANKRD13A	.	nonsynonymous SNV	ANKRD13A:NM_033121:exon1:c.A80G:p.K27R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.001	B	0.002	B	0.003	N	1.000	D	1	L	-0.16	T	-1.047	T	0.123	T	0.152	2.050	12.81	2.83	0.682	2.619	7.460	0.043	0.0551018950332	.	.	7.093e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs754182669	5.808e-06	6.156e-06	4.299e-06	7.359e-06	0.0001	2.5e-06	1.81e-06	5.142e-05	3.707e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.352	0.17372	T	0.0	0.02946	B	0.0	0.01387	B	0.003499	0.34874	N	0.341227	0.802747	0.34533	D	0.775	0.19437	N	-0.16	0.65378	T	-0.61	0.18042	N	0.08	0.05542	-1.0466	0.15361	T	0.123	0.42652	T	10	0.066952646	0.09258	T	0.055102	0.66109	D	0.043	0.11576	0.42	0.46200	0.502443086328	0.49881	0.08349868443930669	0.08283	0.207319878051	0.23183	0.468147873878	0.34426	T	0.012047	0.10654	T	-0.314603	0.07348	T	-0.415382	0.31606	T	0.0927662761635071	0.11541	T	0.80202	0.44827	T	0.055082995	0.10657	0.06191987	0.12034	0.055082995	0.10657	0.06191987	0.12034	-4.22	0.27040	T	.	.	0.072	0.04080	B	.	.	2.646980	0.34459	19.63	0.97044623745005998	0.32126	0.64797	0.32524	D	AEFDBCI	0.308966	0.41540	N	-0.449703711105968	0.23750	1.277596	-0.303823974076501	0.27975	1.556245	0.999999959526591	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.581474	0.35302	0	.	.	3.98	2.83	0.32150	2.360000	0.43805	5.644000	0.49159	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8995:0.0:0.1005:0.0	7.460	0.26461	615	0.66512	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	942.98	33	chr12	109999768	.	A	G	942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.890e-01;DP=768;ExcessHet=0.0000;FS=2.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=0.260;SOR=1.075	GT:AD:DP:GQ:PL	0/1:32,39:71:99:957,0,785	20	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	29227.06	33	chr12	111598993	.	C	*,T	29227.06	.	AC=3,29;AF=0.071,0.690;AN=42;BaseQRankSum=-2.220e-01;DP=1084;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=3,29;MLEAF=0.071,0.690;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=-7.290e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,4,46:50:27:1|0:111598949_GGCT_G:2217,1682,1935,195,0,27:111598949	2	0	0	0
chr12	111747068	111747068	C	G	exonic	ACAD10	.	nonsynonymous SNV	ACAD10:NM_025247:exon15:c.C2276G:p.P759R	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.45	H	-6.47	D	0.930	D	0.993	D	0.945	2.421	14.06	4.94	1.472	3.526	13.968	0.842	0.138151249388	.	.	4.284e-05	0	0	0	0	0	0	0.0004	3.23e-05	5	154602	rs756732035	1.442e-05	1.436e-05	1.092e-05	1.796e-05	0.0002	9.27e-06	7.87e-06	0.0002	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000065	0.52346	D	0.126422	0.999524	0.47407	D	4.315	0.98322	H	-6.47	0.99702	D	-8.11	0.96693	D	0.919	0.92200	0.930	0.96098	D	0.993	0.99847	D	10	0.9276243	0.92107	D	0.138151	0.82065	D	0.842	0.95063	0.742	0.87401	0.992078387343	0.99199	0.9011174588541458	0.90083	0.623396991974	0.56572	0.569672822952	0.48631	T	0.854075	0.96704	D	0.323934	0.84748	D	0.523725	0.95099	D	0.997618734836578	0.91988	D	0.998	0.99100	D	0.61736006	0.73622	0.49463198	0.70772	0.61736006	0.73623	0.49463198	0.70772	-13.468	0.92087	D	.	.	0.794	0.79411	P	.;.	.;.	4.261381	0.64760	24.7	0.9959972442236501	0.74101	0.93083	0.57284	D	AEFBI	0.320027	0.42325	N	0.583342802631442	0.72135	5.758359	0.358851961849975	0.59043	4.078904	0.992785763351375	0.32967	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.83	4.94	0.64645	3.430000	0.52575	4.612000	0.44040	0.595000	0.32841	0.877000	0.30928	1.000000	0.68203	0.871000	0.41478	0.0:0.926:0.0:0.074	13.968	0.63733	453	0.79178	.;Acyl-CoA dehydrogenase/oxidase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	728.98	34	chr12	111747068	.	C	G	728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.498e+00;DP=797;ExcessHet=0.0000;FS=2.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.19;ReadPosRankSum=-1.143e+00;SOR=1.036	GT:AD:DP:GQ:PL	0/1:54,35:89:99:743,0,1472	20	0	1	0
chr12	111870307	111870307	A	C	exonic	MAPKAPK5	.	nonsynonymous SNV	MAPKAPK5:NM_001371485:exon4:c.A223C:p.I75L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.027	B	0.118	B	0.000	D	1.000	D	2.5	M	-0.63	T	-0.504	T	0.287	T	0.49	3.830	19.45	4.43	0.922	6.131	11.677	0.366	0.0272393729378	0.0008	0.00139776	0.0010	0.0005	0.0014	0	0	0.0014	0	0.0005	0.0010155	157	154602	rs199721843	0.0010	0.0010	0.0010	0.0010	0.0019	0.0009	0.0009	0.0016	0.0014	0.0002	0.0019	3.831e-05	0	0.0002	0.0007	0.0011	0.0009	0.0002	0.0010	0.0010	0.0010	0.0009	0.0019	0.0008	0.0008	0.0014	0.0012	0.0005	0	0.0019	0	0	9.429e-05	0	0.0013	0.0028	0	0.025	0.47320	D	0.047	0.48855	D	0.0	0.13644	B	0.001	0.16012	B	0.000000	0.84330	D	0.051093	0.999926	0.81001	D	1.695	0.43389	L	-0.63	0.72011	T	-1.89	0.44094	N	0.564	0.58798	-0.5038	0.68512	T	0.287	0.65919	T	10	0.021787226	0.00529	T	0.027239	0.50072	D	0.366	0.68582	.	.	0.805171108572	0.80334	0.5419242756704408	0.54117	0.542510288734	0.51359	0.73964369297	0.72920	T	0.234425	0.60145	T	-0.272624	0.11465	T	-0.170858	0.57364	T	0.0281872301552378	0.01715	T	0.906009	0.66877	D	0.41876587	0.62009	0.24636097	0.50144	0.41876587	0.62010	0.24636097	0.50143	-10.134	0.74775	D	.	.	0.657	0.71213	P	.;.	.;.	3.450669	0.48049	22.6	0.97784849013605635	0.35957	0.97522	0.75297	D	AEFBI	0.681119	0.64458	D	0.0821788270907794	0.45631	2.816518	0.196749961635058	0.49667	3.167287	0.999958349227684	0.48110	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.6	4.43	0.52967	6.018000	0.70464	8.101000	0.76556	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.93:0.0:0.07:0.0	11.677	0.50700	142	0.94345	.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1438.98	37	chr12	111870307	.	A	C	1438.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=1.54;SOR=0.629	GT:AD:DP:GQ:PL	0/1:48,53:101:99:1453,0,1172	20	0	1	0
chr12	113152000	113152000	C	G	exonic	CFAP73	.	nonsynonymous SNV	CFAP73:NM_001144872:exon2:c.C139G:p.Q47E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.046	B	0.021	B	0.417	N	0.994	N	1.01	L	2.36	T	-1.027	T	0.030	T	0.14	1.631	11.41	3.52	2.280	0.425	15.015	0.062	0.00389152698856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1366798906	2.144e-06	2.052e-06	0	4.347e-06	3.787e-05	5.7e-07	1.6e-07	1.006e-05	4.79e-06	0	0	0	0	0	0	0	0	3.787e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.109	0.37449	T	0.046	0.21875	B	0.021	0.19346	B	0.417156	0.12918	N	0.644479	0.994466	0.23512	N	.	.	.	2.36	0.16089	T	-1.97	0.45587	N	0.12	0.11054	-1.0270	0.21429	T	0.030	0.12979	T	10	0.05716884	0.06523	T	0.003892	0.09148	T	0.062	0.17934	0.336	0.32491	0.0482279557977	0.04254	0.04554937655359647	0.04498	.	.	0.196083128452	0.00352	T	0.005455	0.04901	T	-0.370433	0.03571	T	-0.642099	0.09517	T	0.108418336805749	0.13259	T	0.523848	0.17156	T	0.16666512	0.37016	0.30275315	0.56307	0.16666512	0.37016	0.30275315	0.56306	-3.562	0.17310	T	.	.	0.070	0.03301	B	.	.	1.364968	0.17746	13.34	0.96746354837063731	0.30943	0.33034	0.24730	N	AEFDBI	0.139019	0.26049	N	-0.688415744026477	0.16350	0.8322652	-0.606670786503067	0.19320	1.036093	0.99999999876262	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.52	3.52	0.39415	0.435000	0.21228	1.372000	0.25964	0.599000	0.40250	0.209000	0.24412	0.676000	0.26094	0.118000	0.19084	0.0:1.0:0.0:0.0	15.015	0.71236	701	0.57775	Domain of unknown function DUF4200	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	777.98	43	chr12	113152000	.	C	G	777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.659;DP=848;ExcessHet=0.0000;FS=2.090;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-1.398e+00;SOR=1.037	GT:AD:DP:GQ:PL	0/1:36,30:66:99:792,0,913	20	0	1	0
chr12	117761028	117761028	G	C	exonic	KSR2	.	nonsynonymous SNV	KSR2:NM_173598:exon4:c.C969G:p.D323E,	.	.	433	1051	35	3	0	41	0.0191321	.	.	1590532	not_provided|KSR2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.24	T	0.015	B	0.01	B	0.000	N	0.882	D	1.735	L	0.64	T	-1.102	T	0.065	T	0.216	1.664	11.52	-2.89	-1.082	-2.640	6.890	0.110	.	0.0025	0.0103834	0.0082	0.0002	0.0036	0.0001	0.0002	0.0037	0.0068	0.0414	0.0071927	1112	154602	rs141457085	0.0043	0.0043	0.0032	0.0056	0.0402	0.0043	0.0042	0.0391	0.0386	0.0004	0.0030	0.0071	0.0001	0.0002	0.0236	0.0019	0.0057	0.0402	0.0032	0.0032	0.0029	0.0035	0.0342	0.0030	0.0029	0.0299	0.0283	0.0005	0.0044	0.0041	0.0086	0.0004	0.0003	0.0340	0.0027	0.0057	0.0342	0.383	0.11085	T	0.519	0.10714	T	0.015	0.17086	B	0.01	0.14941	B	0.000015	0.62929	N	0.111914	0.881963	0.35769	D	0.815	0.20815	L	0.64	0.52867	T	-1.16	0.29727	N	0.212	0.23632	-1.1020	0.03857	T	0.065	0.26948	T	10	0.0028678179	0.00046	T	.	.	.	0.110	0.31079	0.289	0.24921	0.390598846067	0.38674	0.3763064201691893	0.37544	0.643779572933	0.57903	0.589513301849	0.51426	T	0.296005	0.66865	T	-0.589331	0.00169	T	-0.590034	0.13662	T	0.00410477713333887	0.00044	T	0.70223	0.31206	T	0.05982418	0.12203	0.0596812	0.11241	0.05982418	0.12202	0.0596812	0.11241	-3.052	0.10752	T	.	.	0.073	0.08705	B	.;.	.;.	-0.802662	0.01101	0.050	0.95443789358171249	0.26955	0.19524	0.20694	N	AEFDBI	0.369826	0.45641	N	-0.958532844071779	0.09502	0.450003	-0.952319441677368	0.10869	0.5502401	0.0015609673761638	0.08639	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.23	-2.89	0.05326	-2.914000	0.00763	-6.349000	0.01424	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.908000	0.44358	0.4978:0.2198:0.2823:0.0	6.890	0.23403	872	0.31118	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2477.92	34	chr12	117761028	.	G	C	2477.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.20;DP=829;ExcessHet=0.6776;FS=0.499;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.681;SOR=0.645	GT:AD:DP:GQ:PL	0/1:28,16:44:99:404,0,721	17	0	4	0
chr12	118068526	118068528	TCC	-	exonic	VSIG10	.	nonframeshift deletion	VSIG10:NM_019086:exon8:c.1416_1418del:p.E474del,	.	.	0	151	56	5	14	80	0.179348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	16579.07	36	chr12	118068522	.	TTCCTCC	T,TTCC	16579.07	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-4.740e-01;DP=1421;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=6,3;MLEAF=0.143,0.071;MQ=60.00;MQRankSum=0.00;QD=22.40;ReadPosRankSum=0.739;SOR=0.686	GT:AD:DP:GQ:PL	0/1:53,50,0:103:99:1921,0,2007,2081,2159,4240	13	1	4	0
chr12	119505249	119505249	A	G	exonic	CCDC60	.	nonsynonymous SNV	CCDC60:NM_178499:exon7:c.A829G:p.I277V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.006	B	0.123	N	1.000	N	1.1	L	1.9	T	-1.015	T	0.034	T	0.064	-0.071	3.655	-5.7	-0.608	0.060	8.686	0.042	0.00392177360159	.	.	1.663e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs762950566	6.844e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.24	0.17701	T	0.247	0.23914	T	0.005	0.12996	B	0.006	0.12133	B	0.122841	0.18941	N	0.391314	1	0.08975	N	1.78	0.46185	L	1.9	0.23486	T	-0.39	0.13611	N	0.115	0.10340	-1.0147	0.25432	T	0.034	0.14464	T	9	0.020495951	0.00473	T	0.003922	0.09242	T	0.042	0.11227	0.163	0.06730	0.0551355673512	0.04727	0.17574455094625874	0.17493	0.0548582352594	0.06076	0.293211102486	0.09392	T	6.2E-4	0.00264	T	-0.490345	0.00647	T	-0.716421	0.04970	T	0.0528246624910063	0.05989	T	0.550545	0.18982	T	0.042336635	0.06401	0.056132562	0.09975	0.042336635	0.06400	0.056132562	0.09974	-3.378	0.14762	T	.	.	0.062	0.01271	B	.	.	0.376845	0.07489	4.131	0.58556280342409128	0.06020	0.02203	0.06427	N	AEFDBHCI	0.029533	0.02805	N	-1.03327777059433	0.07919	0.3695586	-1.09469321578986	0.07804	0.381068	0.99972737051305	0.42220	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.07	-5.7	0.02226	-0.044000	0.11977	-0.173000	0.11207	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.841000	0.39698	0.2949:0.1557:0.5494:0.0	8.686	0.33400	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2631.98	40	chr12	119505249	.	A	G	2631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=949;ExcessHet=0.0000;FS=4.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=0.504;SOR=1.002	GT:AD:DP:GQ:PL	0/1:94,105:199:99:2646,0,2253	20	0	1	0
chr12	121240525	121240525	-	TT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAA:p.G539Kfs*6,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	1/2:0,17,25,4,0,0:46:99:1665,634,495,404,0,269,1048,434,322,956,1184,551,401,975,1091,1184,551,401,975,1091,1091	4	0	0	0
chr12	121240525	121240525	-	TTT	exonic	CAMKK2	.	nonframeshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAA:p.K538_G539insK,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	1/2:0,17,25,4,0,0:46:99:1665,634,495,404,0,269,1048,434,322,956,1184,551,401,975,1091,1184,551,401,975,1091,1091	4	0	0	0
chr12	121240525	121240525	-	TTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAA:p.G539Kfs*4,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	1/2:0,17,25,4,0,0:46:99:1665,634,495,404,0,269,1048,434,322,956,1184,551,401,975,1091,1184,551,401,975,1091,1091	4	0	0	0
chr12	121240525	121240525	-	TTTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAAA:p.G539Kfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	1/2:0,17,25,4,0,0:46:99:1665,634,495,404,0,269,1048,434,322,956,1184,551,401,975,1091,1184,551,401,975,1091,1091	4	0	0	0
chr12	123313662	123313662	T	C	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon24:c.A3178G:p.M1060V	.	.	429	1042	45	6	0	57	0.0266231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.002	B	0.000	D	0.856	D	-0.44	N	1.65	T	-1.034	T	0.015	T	0.417	0.916	8.730	5.54	2.116	0.958	7.636	0.137	.	0.0029	0.0159744	0.0109	0.0007	0.0062	0.0237	0.0011	0.0044	0.0152	0.0436	0.0096312	1489	154602	rs61760910	0.0062	0.0063	0.0051	0.0073	0.0388	0.0061	0.0060	0.0377	0.0372	0.0006	0.0063	0.0103	0.0222	0.0012	0.0182	0.0033	0.0074	0.0388	0.0050	0.0050	0.0043	0.0057	0.0396	0.0047	0.0046	0.0350	0.0332	0.0007	0	0.0084	0.0107	0.0212	0.0013	0.0068	0.0035	0.0071	0.0396	0.183	0.21718	T	0.169	0.30534	T	0.001	0.07471	B	0.002	0.06944	B	0.000002	0.62929	D	0.058316	0.856217	0.35307	D	-0.31	0.03598	N	1.65	0.27650	T	-0.66	0.19085	N	0.333	0.39254	-1.0340	0.19173	T	0.015	0.06234	T	10	0.0048089623	0.00102	T	.	.	.	0.137	0.36984	.	.	.	.	0.38444614813562367	0.38359	0.688503199129	0.60440	0.510839700699	0.40340	T	0.009356	0.08525	T	-0.512294	0.00487	T	-0.479375	0.24512	T	0.00408432732271108	0.00043	T	0.880312	0.59828	D	0.071064286	0.15703	0.12246162	0.29540	0.071064286	0.15703	0.12246162	0.29539	-4.076	0.24935	T	.	.	0.069	0.03093	B	.;.;.	.;.;.	2.591516	0.33622	19.39	0.90063825735817182	0.19349	0.92334	0.55472	D	AEFGBI	0.219016	0.34395	N	-0.347043841201191	0.27380	1.501804	-0.0900975112708858	0.35799	2.075433	0.0120214417839473	0.12269	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	0.715000	0.25493	2.800000	0.34847	-0.194000	0.09177	0.938000	0.32564	0.999000	0.35428	0.582000	0.30943	0.139:0.0:0.1451:0.7159	7.636	0.27435	458	0.78890	Strawberry notch, helicase C domain;.;Strawberry notch, helicase C domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3079.68	33	chr12	123313662	.	T	C	3079.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-6.800e-01;DP=866;ExcessHet=0.3300;FS=7.235;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.109;SOR=0.388	GT:AD:DP:GQ:PL	0/1:31,56:87:99:1297,0,646	18	0	3	0
chr12	124402521	124402521	-	GCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGC:p.Q509_P510insQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/4:0,20,0,0,33:53:99:2128,1355,1297,2164,1383,2365,2164,1383,2365,2365,783,0,1017,1017,1114	0	1	2	0
chr12	124402521	124402521	-	GCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGC:p.Q509_P510insQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/4:0,20,0,0,33:53:99:2128,1355,1297,2164,1383,2365,2164,1383,2365,2365,783,0,1017,1017,1114	0	1	2	0
chr12	124402521	124402521	-	GCTGCTGCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGCAGCAGC:p.Q509_P510insQQQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/4:0,20,0,0,33:53:99:2128,1355,1297,2164,1383,2365,2164,1383,2365,2365,783,0,1017,1017,1114	0	1	2	0
chr12	124402513	124402521	GCTGCTGCT	-	exonic	NCOR2	.	nonframeshift deletion	NCOR2:NM_001077261:exon16:c.1520_1528del:p.Q507_Q509del	.	.	0	15	9	3	199	214	0.333333	.	.	3196719	NCOR2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221645	0.0099	0.0012	0.0160	0.0761	0	0.0011	0.0117	0.0168	0.0047283	731	154602	rs559681337	0.0048	0.0047	0.0044	0.0052	0.0945	0.0047	0.0047	0.0918	0.0908	0.0009	0.0120	0.0002	0.0945	0.0004	0.0020	0.0006	0.0064	0.0186	0.0046	0.0047	0.0039	0.0054	0.0687	0.0044	0.0042	0.0627	0.0604	0.0012	0	0.0060	0	0.0687	0.0008	0	0.0010	0.0048	0.0268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/4:0,20,0,0,33:53:99:2128,1355,1297,2164,1383,2365,2164,1383,2365,2365,783,0,1017,1017,1114	0	1	2	0
chr12	132148891	132149110	CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	-	exonic	NOC4L	.	frameshift deletion	NOC4L:NM_024078:exon9:c.897_901del:p.D299Efs*25,	.	.	422	945	57	36	62	191	0.063893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0042	0.0039	0.0041	0.0054	0.0037	0.0036	0.0045	0.0041	0.0042	0.0068	0.0054	0.0069	0.0014	0.0029	0.0072	0.0037	0.0095	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	21208.18	31	chr12	132148890	.	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,A,ACCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	21208.18	.	AC=13,7,1,1;AF=0.310,0.167,0.024,0.024;AN=42;BaseQRankSum=0.920;DP=1350;ExcessHet=3.4384;FS=1.805;InbreedingCoeff=-0.1455;MLEAC=13,7,1,1;MLEAF=0.310,0.167,0.024,0.024;MQ=59.50;MQRankSum=-2.060e-01;QD=21.38;ReadPosRankSum=-1.910e-01;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,33,0,0,0:62:99:.:.:1302,0,1089,1389,1196,2586,1389,1196,2586,2586,1389,1196,2586,2586,2586	4	2	6	0
chr12	132543321	132543321	C	T	exonic	FBRSL1	.	stopgain	FBRSL1:NM_001382743:exon6:c.C853T:p.R285X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs368354261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.848e-05	9.843e-05	8.994e-05	0.0001	0.0019	6.002e-05	4.876e-05	0.0010	0.0008	0	0	0	0	0.0019	0	0	2.94e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	30.5	78	chr12	132543321	.	C	T	30.5	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-9.670e-01;DP=78;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0819;MLEAC=2;MLEAF=0.067;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=-9.670e-01;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:18:40,0,18	14	0	1	6
chr12	132701299	132701299	C	T	exonic	PXMP2	.	nonsynonymous SNV	PXMP2:NM_018663:exon4:c.C449T:p.P150L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.856	P	0.307	B	0.002	N	1.000	D	2.98	M	-2.28	D	0.333	D	0.624	D	0.534	1.878	12.24	4.36	2.650	2.702	10.706	0.494	0.195702259432	.	.	0.0002	0	0	0.0001	0.0012	0.0003	0	0.0001	0.000194	30	154602	rs746375161	0.0001	0.0001	9.402e-05	0.0001	0.0007	8.721e-05	8.208e-05	0.0002	0.0001	2.999e-05	0	0	2.53e-05	0.0014	0.0007	5.577e-05	4.971e-05	4.643e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	6.806e-05	5.089e-05	2.408e-05	0	0	0	0.0002	0.0020	0	0.0001	0.0005	0	0.065	0.36310	T	0.125	0.35330	T	0.856	0.47190	P	0.307	0.41295	B	0.001806	0.37945	N	0.288521	1	0.81001	D	3.11	0.87757	M	-2.28	0.87512	D	-3.73	0.70920	D	0.455	0.49237	0.333	0.88068	D	0.624	0.86775	D	10	0.09909204	0.17960	T	0.195702	0.86437	D	0.494	0.77973	0.538	0.64874	0.770919186982	0.76882	0.5432015391169126	0.54246	0.187713895279	0.21090	0.378502935171	0.22044	T	0.728365	0.92377	D	-0.0535223	0.43912	T	-0.0596116	0.66360	T	0.205820995657576	0.20733	T	0.835117	0.50455	T	0.16013196	0.35933	0.16213909	0.37678	0.16013196	0.35932	0.16213909	0.37677	-7.1	0.54760	T	0.3163072026215954	0.41435	0.22	0.45061	B	.;.	.;.	3.453392	0.48099	22.6	0.98611414817554754	0.43651	0.93679	0.58883	D	AEFBI	0.297381	0.40698	N	0.319962169951374	0.57173	3.883784	0.273072404481579	0.53971	3.563811	0.999924430954951	0.46280	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.31	4.36	0.51643	2.723000	0.46947	1.573000	0.27428	0.580000	0.29708	0.861000	0.30630	0.831000	0.27213	0.048000	0.15020	0.3003:0.6997:0.0:0.0	10.706	0.45151	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2237.98	35	chr12	132701299	.	C	T	2237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=862;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.02;ReadPosRankSum=-1.774e+00;SOR=0.711	GT:AD:DP:GQ:PL	0/1:62,87:149:99:2252,0,1361	20	0	1	0
chr13	21155151	21155151	-	AGTTTTCTTTGT	splicing	SKA3	NM_145061:exon9:c.1239-1->ACAAAGAAAACT;NM_001166017:exon8:c.1120-1->ACAAAGAAAACT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0021	0.0009	0.0009	0.0032	0.0009	0.0009	0.0027	0.0025	0.0005	0.0008	0.0015	0.0032	0.0040	0.0007	0.0007	0.0013	0.0004	0.0039	0.0049	0.0039	0.0040	0.0110	0.0037	0.0036	0.0087	0.0078	0.0011	0.0022	0.0047	0.0035	0.0110	0.0102	0	0.0038	0.0085	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1065.07	34	chr13	21155151	.	C	CAGTTTTCTTTGT	1065.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.40;DP=903;ExcessHet=0.1072;FS=15.292;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.45;ReadPosRankSum=1.18;SOR=1.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,16:63:99:0|1:21155151_C_CAGTTTTCTTTGT:528,0,1922:21155151	19	0	2	0
chr13	21155813	21155813	-	GGAG	splicing	SKA3	NM_145061:exon8:c.1120-2->CTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.943e-05	4.936e-05	2.111e-05	1.784e-05	.	1.242e-05	1.001e-05	.	.	0	0	0	0	0.0004	0	0	0	0	0.0005	0.0005	0.0003	0.0006	0.0022	0.0004	0.0003	0.0012	0.0009	0.0002	0	0.0007	0.0003	0.0006	0.0010	0	0.0004	0.0015	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	23464.59	54	chr13	21155813	.	T	TA,TAA,TGGAG	23464.59	.	AC=16,16,1;AF=0.381,0.381,0.024;AN=42;BaseQRankSum=-6.120e-01;DP=1495;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0104;MLEAC=16,16,1;MLEAF=0.381,0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=23.19;ReadPosRankSum=0.381;SOR=0.664	GT:AD:DP:GQ:PL	1/2:0,29,22,0:51:99:1418,567,421,678,0,606,1343,550,676,1299	1	1	4	0
chr13	21158126	21158126	-	AAAGCTATGCTGTTCTTTGTAGATGGAATTTTCAAACCAGGAGTACAGAATGTAGGTACCAAAGGAGAG	splicing	SKA3	NM_145061:exon7:c.916-1->CTCTCCTTTGGTACCTACATTCTGTACTCCTGGTTTGAAAATTCCATCTACAAAGAACAGCATAGCTTT;NM_001166017:exon7:c.916-1->CTCTCCTTTGGTACCTACATTCTGTACTCCTGGTTTGAAAATTCCATCTACAAAGAACAGCATAGCTTT	.	.	.	.	441	1022	31	2	26	61	0.016835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0.0003	0.0004	0	0.0002	0	0.0004	.	.	.	.	0.0001	0.0001	9.436e-05	0.0002	0.0007	0.0001	0.0001	0.0003	0.0002	0	2.253e-05	3.894e-05	0.0003	0.0011	0.0007	9.754e-05	0.0002	8.265e-05	0.0002	0.0004	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	9.645e-05	0	0.0004	0	0.0002	0.0008	0	0.0003	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2496.07	43	chr13	21158126	.	C	CAAAGCTATGCTGTTCTTTGTAGATGGAATTTTCAAACCAGGAGTACAGAATGTAGGTACCAAAGGAGAG	2496.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.61;DP=982;ExcessHet=0.1072;FS=12.271;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.83;ReadPosRankSum=0.273;SOR=0.239	GT:AD:DP:GQ:PL	0/1:38,28:66:99:1039,0,1503	19	0	2	0
chr13	21159988	21159988	-	ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA	splicing	SKA3	NM_145061:exon6:c.830-1->TCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT;NM_001166017:exon6:c.830-1->TCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0003	0.0003	0.0002	0.0005	0.0019	0.0003	0.0003	0.0011	0.0008	3.125e-05	9.925e-05	0.0002	0.0007	0.0005	0.0019	0.0003	0.0002	0.0002	7.913e-05	0.0002	9.03e-05	6.744e-05	0.0002	4.511e-05	3.524e-05	7.94e-05	6.017e-05	0	0	0	0	0.0002	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4035.12	33	chr13	21159988	.	C	CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA,CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	4035.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=3.98;DP=1193;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-1.630e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/1:81,21,0:102:99:630,0,3347,882,3410,4292	17	0	1	0
chr13	21159988	21159988	-	ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	splicing	SKA3	NM_145061:exon6:c.830-1->CAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT;NM_001166017:exon6:c.830-1->CAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT	.	.	.	.	437	1077	1	0	7	8	0.000464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0009	0.0005	0.0013	0.0016	0.0009	0.0009	0.0013	0.0012	0.0001	0.0004	0.0002	0.0016	0.0036	0.0011	0.0009	0.0009	0.0006	9.245e-05	0.0006	5.162e-05	0.0001	0.0004	5.554e-05	4.386e-05	6.934e-05	5.109e-05	2.419e-05	0	6.588e-05	0	0.0004	9.537e-05	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4035.12	33	chr13	21159988	.	C	CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA,CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	4035.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=3.98;DP=1193;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-1.630e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/1:81,21,0:102:99:630,0,3347,882,3410,4292	17	0	1	0
chr13	24431410	24431410	T	C	exonic	PARP4	.	nonsynonymous SNV	PARP4:NM_006437:exon32:c.A4813G:p.S1605G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.462	P	0.067	B	0.104	U	1.000	N	1.525	L	-2.35	D	-0.602	T	0.435	T	0.104	-0.647	1.149	0.804	-0.008	-0.358	3.350	0.088	0.0079619077498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.21968	T	0.269	0.22426	T	0.462	0.36386	P	0.067	0.27542	B	0.103570	0.19741	U	0.362328	1	0.08975	N	1.95	0.52479	M	-2.35	0.88066	D	-1.45	0.35597	N	0.165	0.17416	-0.6019	0.64739	T	0.435	0.77568	T	10	0.15687987	0.29535	T	0.007962	0.21110	T	0.088	0.25558	0.261	0.20473	0.888457289449	0.88735	0.0703595201213129	0.06972	0.136357026791	0.15383	0.42487603426	0.28508	T	0.06932	0.33681	T	-0.0994664	0.36512	T	-0.380653	0.35647	T	0.110039598621544	0.13428	T	0.654235	0.26451	T	0.078401215	0.17851	0.05079622	0.08046	0.078401215	0.17851	0.05079622	0.08045	-4.94	0.36182	T	.	.	0.09	0.12607	B	.	.	0.342466	0.07159	3.744	0.92475501397732707	0.21905	0.01136	0.04125	N	AEFBI	0.028860	0.02618	N	-0.821415513947533	0.12764	0.6242623	-0.932044124335994	0.11340	0.5771193	1.00582055930697E-4	0.04910	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	3.48	0.804	0.17840	-0.427000	0.07068	-0.115000	0.11785	0.476000	0.22017	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.0:0.1356:0.239:0.6253	3.350	0.06730	882	0.29131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	617.98	34	chr13	24431410	.	T	C	617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.604;DP=699;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=-5.650e-01;SOR=0.763	GT:AD:DP:GQ:PL	0/1:20,26:46:99:632,0,427	20	0	1	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9,	.	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	20220.35	244	chr13	25097016	.	AGACGGAACT	A,AGAACT	20220.35	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.45;DP=4626;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.33;MQRankSum=-1.066e+01;QD=4.53;ReadPosRankSum=-8.050e-01;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,30,0:223:99:0|1:25097005_A_G:679,0,8014,1260,8104,9364:25097005	4	0	16	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	597.61	244	chr13	25097021	.	G	T,*	597.61	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.31;DP=4600;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.15;MQRankSum=-1.027e+01;QD=0.13;ReadPosRankSum=-6.340e-01;SOR=1.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:193,0,30:223:99:0|1:25097005_A_G:679,1260,9364,0,8104,8014:25097005	4	0	1	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	616.58	244	chr13	25097025	.	TTAAGC	T,*	616.58	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.65;DP=4638;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.18;MQRankSum=-1.037e+01;QD=0.14;ReadPosRankSum=-4.370e-01;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:193,0,30:223:99:0|1:25097005_A_G:679,1260,9364,0,8104,8014:25097005	4	0	1	0
chr13	25097030	25097030	C	0	exonic	PABPC3	.	.	.	.	.	432	843	240	1	6	248	0.125519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	19605.59	231	chr13	25097030	.	C	T,*	19605.59	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.79;DP=4585;ExcessHet=25.1139;FS=4.555;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.30;MQRankSum=-1.040e+01;QD=4.43;ReadPosRankSum=-8.070e-01;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,34,0:218:99:0|1:25097005_A_G:852,0,7619,1406,7722,9127:25097005	4	0	16	0
chr13	37569335	37569335	A	G	exonic	POSTN	.	nonsynonymous SNV	POSTN:NM_001286666:exon18:c.T2135C:p.F712S	.	.	443	1039	38	2	0	42	0.0198113	.	.	713921	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.37	T	0.867	P	0.544	P	0.095	N	1.000	N	1.1	L	-2.77	D	-0.353	T	0.525	D	0.093	2.630	14.75	4.41	0.943	4.010	10.104	0.228	.	0.0078	0.00319489	0.0070	0.0019	0.0065	0	0.0036	0.0102	0.0088	0.0024	0.0071603	1107	154602	rs75157793	0.0083	0.0083	0.0082	0.0084	0.0444	0.0082	0.0081	0.0400	0.0382	0.0025	0.0085	0.0286	0	0.0036	0.0444	0.0086	0.0102	0.0035	0.0071	0.0071	0.0071	0.0070	0.0105	0.0067	0.0066	0.0092	0.0090	0.0016	0	0.0105	0.0283	0	0.0028	0.0476	0.0098	0.0128	0.0033	0.404	0.65419	T	0.203	0.74150	T	0.593	0.47667	P	0.123	0.49014	B	0.095195	0.20135	N	0.497686	1	0.81001	D	1.1	0.28011	L	-2.8	0.91305	D	-1.16	0.29727	N	0.299	0.40164	-0.3532	0.73461	T	0.525	0.82331	D	10	0.00763011	0.00173	T	.	.	.	0.228	0.52768	.	.	0.919383460032	0.91856	0.6702049319968416	0.66958	0.271867686354	0.29697	0.340815365314	0.16560	T	0.206593	0.56598	T	-0.366748	0.03762	T	-0.28726	0.46055	T	0.0294644826363867	0.01907	T	0.748625	0.37818	T	0.1899733	0.40562	0.16072664	0.37421	0.1899733	0.40562	0.16072664	0.37421	-2.671	0.14193	T	.	.	0.150	0.35951	B	.;.;.;.	.;.;.;.	2.916861	0.38706	20.8	0.99462021203651474	0.65840	0.88563	0.48549	D	AEBI	0.614519	0.60181	D	0.00339914299677251	0.42010	2.523229	0.120058895224298	0.45577	2.818331	0.849759054739009	0.25022	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.59	4.41	0.52588	4.016000	0.56871	7.027000	0.57288	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.9239:0.0:0.0761:0.0	10.104	0.41697	503	0.75780	.;.;.;.	.	.	POSTN|POSTN|POSTN|POSTN|POSTN|POSTN|POSTN|POSTN|POSTN|POSTN	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1877.11	37	chr13	37569335	.	A	G	1877.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.390e-01;DP=850;ExcessHet=0.1072;FS=0.568;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.684;SOR=0.674	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1056,0,1232	19	0	2	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L,	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.951	P	0.409	B	0.000	N	1.000	D	2.865	M	1.88	T	-0.981	T	0.091	T	0.248	3.297	17.08	4.14	0.938	4.903	8.428	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	1573.08	134	chr13	38859428	.	G	C	1573.08	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-4.318e+00;DP=3120;ExcessHet=17.4423;FS=268.600;InbreedingCoeff=-0.5351;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.855;SOR=13.744	GT:AD:DP:GQ:PL	0/1:110,42:166:31:31,0,1965	6	0	15	0
chr13	41671052	41671052	A	T	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_015058:exon37:c.T4505A:p.V1502D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.996	D	0.000	D	1.000	D	2.085	M	2.38	T	-0.996	T	0.117	T	0.984	3.298	17.08	5.57	2.133	9.300	15.74	0.649	0.0747450813781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.475	0.71894	M	2.38	0.15843	T	-4.37	0.77061	D	0.951	0.95956	-0.9961	0.31001	T	0.117	0.41275	T	10	0.89012784	0.88353	D	0.074745	0.72116	D	0.649	0.86736	0.694	0.83126	0.229264304666	0.22521	0.9310296880643112	0.93081	0.44573178934	0.44459	0.581262469292	0.50263	T	0.239864	0.60808	T	0.24371	0.78012	D	0.112296	0.77725	D	0.994207739830017	0.85362	D	0.957304	0.83911	D	0.8876927	0.90310	0.87337136	0.93100	0.8876927	0.90311	0.87337136	0.93100	-10.562	0.77203	D	.	.	0.986	0.92530	P	.	.	4.357989	0.66997	25.0	0.98253737976155975	0.39603	0.99014	0.89972	D	AEFDGBI	0.882286	0.81029	D	0.685028698641901	0.78652	6.914792	0.620066303195854	0.76397	6.483759	0.999999999999655	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.57	5.57	0.84021	9.290000	0.95109	11.113000	0.86368	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.294000	0.24357	1.0:0.0:0.0:0.0	15.74	0.77652	673	0.60677	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3027.98	38	chr13	41671052	.	A	T	3027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.190e-01;DP=926;ExcessHet=0.0000;FS=2.218;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.078e+00;SOR=0.868	GT:AD:DP:GQ:PL	0/1:114,120:234:99:3042,0,2903	20	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.0	B	0.384	N	1.000	N	-1.1	N	1.03	T	-1.049	T	0.025	T	0.042	-1.565	0.015	-6.75	-1.034	0.234	0.459	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7061.0	123	chr13	42303097	.	G	C	7061.0	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-4.570e+00;DP=3154;ExcessHet=43.6797;FS=339.584;InbreedingCoeff=-0.9521;MLEAC=21;MLEAF=0.525;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=0.878;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:95,50:145:99:.:.:474,0,2063	0	0	20	1
chr13	42313938	42313938	A	T	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon11:c.A5402T:p.E1801V,	.	.	.	.	.	.	.	.	.	0.5799	0.428	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.98	D	0.773	P	0.010	N	1.000	D	2.075	M	2.4	T	-1.108	T	0.063	T	0.295	2.668	14.88	3.18	1.005	2.865	5.571	0.086	0.012449205276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.087	0.40747	T	0.98	0.59353	D	0.773	0.56974	P	0.010271	0.29994	N	0.319059	1	0.81001	D	2.79	0.81396	M	2.4	0.15608	T	-1.07	0.27876	N	0.404	0.44474	-1.1078	0.03265	T	0.063	0.26244	T	10	0.3221875	0.49571	T	0.012449	0.31033	T	0.086	0.25016	0.342	0.33464	0.334371577756	0.33041	0.2504081528049408	0.24954	0.203387455224	0.22757	0.290207922459	0.08953	T	0.005407	0.04862	T	-0.15514	0.27511	T	-0.460625	0.26530	T	0.875454008579254	0.52533	D	0.713029	0.32487	T	0.07885204	0.17980	0.07329216	0.15911	0.07885204	0.17979	0.07329216	0.15911	-4.473	0.30534	T	.	.	0.147	0.32396	B	.	.	6.346253	0.95055	34	0.9881166610507891	0.46623	0.93216	0.57628	D	AEFBI	0.367349	0.45484	N	0.327776301476438	0.57579	3.925718	0.28963903453194	0.54934	3.657071	0.997469958504112	0.35646	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.72	3.18	0.35615	2.872000	0.48165	6.862000	0.56765	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.764000	0.36293	0.7087:0.1457:0.1456:0.0	5.571	0.16478	657	0.62240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1844.98	37	chr13	42313938	.	A	T	1844.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.055;DP=858;ExcessHet=0.0000;FS=2.720;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=0.239;SOR=0.868	GT:AD:DP:GQ:PL	0/1:87,77:164:99:1859,0,2058	20	0	1	0
chr13	45713422	45713422	G	C	exonic	CBY2	.	nonsynonymous SNV	CBY2:NM_001286341:exon2:c.G316C:p.G106R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.83	L	-0.18	T	-0.131	T	0.434	T	0.93	4.269	22.3	4.97	2.584	6.563	15.091	0.715	0.155555222468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.016	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000028	0.55875	D	0.000000	0.999663	0.48141	D	2.815	0.81989	M	-0.18	0.66834	T	-7.19	0.96495	D	0.857	0.85343	-0.1312	0.79373	T	0.434	0.77452	T	10	0.89705896	0.89061	D	0.155555	0.83648	D	0.715	0.89877	0.749	0.87988	0.890138138783	0.88905	0.707602668639193	0.70702	1.2086047739	0.80767	0.788824617863	0.80264	T	0.375487	0.73908	T	0.331138	0.85238	D	0.237881	0.85044	D	0.998599708080292	0.94592	D	0.864814	0.66280	D	0.8277571	0.85747	0.86444056	0.92483	0.8277571	0.85748	0.86444056	0.92484	-7.022	0.54194	T	.	.	0.936	0.87270	P	.;.;.;.	.;.;.;.	4.983196	0.82561	27.8	0.99916098026899014	0.98379	0.98434	0.82737	D	AEFDBI	0.741261	0.68525	D	0.739339544166068	0.82208	7.70647	0.717313887008357	0.83694	8.08933	0.999987675483847	0.51787	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.97	4.97	0.65419	5.269000	0.65354	9.670000	0.81217	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	15.091	0.71858	718	0.55760	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1339.98	34	chr13	45713422	.	G	C	1339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-01;DP=908;ExcessHet=0.0000;FS=1.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-4.070e-01;SOR=0.544	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1354,0,1477	20	0	1	0
chr13	50956394	50956394	G	T	exonic	RNASEH2B	.	nonsynonymous SNV	RNASEH2B:NM_024570:exon11:c.G859T:p.A287S,	Aicardi-Goutieres syndrome 2, Autosomal recessive	.	2	1507	12	1	0	14	0.00462351	.	.	336834	not_provided|not_specified|Aicardi-Goutieres_syndrome_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012429,MedGen:C3489724,OMIM:610181,Orphanet:51	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.964	D	0.721	P	0.000	D	1.000	D	2.26	M	-4.03	D	0.578	D	0.815	D	0.653	3.928	19.99	6.06	2.871	5.437	17.348	0.595	.	0.0005	0.00539137	0.0061	0.0002	0.0220	0.03	0.0028	0.0016	0.0051	0.0012	0.0033699	521	154602	rs144408326	0.0014	0.0015	0.0015	0.0014	0.0187	0.0014	0.0014	0.0176	0.0171	6.02e-05	0.0128	0.0002	0.0187	0.0011	0.0010	0.0005	0.0016	0.0015	0.0017	0.0017	0.0015	0.0019	0.0211	0.0015	0.0015	0.0179	0.0167	0.0002	0	0.0040	0.0003	0.0211	0.0009	0	0.0009	0.0014	0.0017	0.235	0.18000	T	0.188	0.28669	T	0.964	0.55854	D	0.721	0.54900	P	0.000001	0.84330	D	0.093709	1	0.81001	D	2.34	0.67151	M	-4.03	0.96434	D	-1.04	0.27259	N	0.216	0.24135	0.578	0.91604	D	0.815	0.93776	D	10	0.0097846985	0.00220	T	.	.	.	0.595	0.83911	.	.	0.962080051855	0.96167	0.34271406102215285	0.34184	0.162992072304	0.18394	0.599595010281	0.52847	T	0.531679	0.83805	D	-0.059135	0.43042	T	0.159	0.80757	D	0.0498612706866577	0.05476	T	0.845915	0.55914	T	0.16057646	0.36008	0.17651777	0.40191	0.14362751	0.33001	0.16627134	0.38420	-5.83	0.44835	T	0.2480232613248502	0.33582	0.185	0.41433	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.740820	0.76452	26.5	0.99518974557702922	0.69100	0.94926	0.62811	D	AEFBI	0.672524	0.63890	D	0.656918210197903	0.76816	6.556992	0.693034019698831	0.81851	7.624045	0.999999595076717	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.06	6.06	0.98340	5.464000	0.66451	11.907000	0.99503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.348	0.87201	848	0.35897	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	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	1	0	0.02381	510.98	33	chr13	50956394	.	G	T	510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.389;DP=715;ExcessHet=0.0000;FS=4.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=-5.740e-01;SOR=1.426	GT:AD:DP:GQ:PL	0/1:30,21:51:99:525,0,753	20	0	1	0
chr13	52029312	52029312	A	G	exonic	UTP14C	.	nonsynonymous SNV	UTP14C:NM_021645:exon2:c.A508G:p.I170V,	.	.	419	1102	1	0	0	1	0.000453515	.	.	237194	not_provided|ALG11-congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0013349,MedGen:C3150913,OMIM:613661,Orphanet:280071	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.42	T	0.243	B	0.207	B	0.004	N	1.000	N	1.66	L	2.36	T	-1.048	T	0.029	T	0.078	0.436	6.370	2.46	1.146	-0.024	8.414	0.027	0.00231305394395	0.0052	0.00199681	0.0035	0.0015	0.0029	0	0.0011	0.0053	0.0022	0.0006	0.0036416	563	154602	rs73184339	0.0062	0.0062	0.0063	0.0060	0.0075	0.0060	0.0060	0.0074	0.0073	0.0013	0.0030	3.826e-05	0	0.0009	0.0003	0.0075	0.0063	0.0006	0.0041	0.0041	0.0044	0.0037	0.0075	0.0038	0.0037	0.0069	0.0067	0.0014	0	0.0025	0	0	0.0005	0	0.0075	0.0062	0.0004	0.197	0.20607	T	0.892	0.03117	T	0.243	0.30970	B	0.207	0.37187	B	0.004174	0.34034	N	0.364353	1	0.81001	D	1.8	0.47472	L	2.36	0.16089	T	-0.17	0.09627	N	0.042	0.01498	-1.0477	0.15045	T	0.029	0.12365	T	10	0.007573843	0.00172	T	0.002313	0.04452	T	0.027	0.05988	.	.	0.227260227426	0.22338	0.07141856775567916	0.07078	0.0987967183459	0.11165	0.348253279924	0.17665	T	0.001144	0.00651	T	-0.639284	0.00084	T	-0.685373	0.06660	T	0.00159623552123552	0.00016	T	0.758824	0.38273	T	0.031221647	0.02922	0.04312845	0.05296	0.031221647	0.02922	0.04312845	0.05296	-4.341	0.28748	T	.	.	0.073	0.04477	B	.	.	0.760481	0.11303	7.925	0.93604480535229229	0.23463	0.06137	0.12116	N	AEFBCI	0.048714	0.08340	N	-0.579634771419989	0.19563	1.024909	-0.62269714747864	0.18911	1.012327	0.200236982395711	0.18114	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	2.46	2.46	0.29032	-0.171000	0.09872	2.359000	0.32360	0.652000	0.53365	0.002000	0.15269	0.088000	0.22492	0.923000	0.45890	1.0:0.0:0.0:0.0	8.414	0.31823	593	0.68665	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2121.98	119	chr13	52029312	.	A	G	2121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.742e+00;DP=1973;ExcessHet=0.0000;FS=2.096;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.63;ReadPosRankSum=0.480;SOR=0.765	GT:AD:DP:GQ:PL	0/1:62,83:145:99:2136,0,1728	20	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.995	D	0.000	D	0.987	D	3.165	M	-0.39	T	0.346	D	0.580	D	0.608	3.858	19.60	5.08	2.520	4.058	18.834	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	1218.29	151	chr13	69882456	.	G	A	1218.29	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-2.253e+00;DP=2755;ExcessHet=17.4423;FS=173.681;InbreedingCoeff=-0.5810;MLEAC=15;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.201;SOR=13.428	GT:AD:DP:GQ:PL	0/1:113,44:161:66:66,0,1628	5	0	15	1
chr13	71630678	71630678	T	C	exonic	DACH1	.	nonsynonymous SNV	DACH1:NM_001366712:exon3:c.A1004G:p.N335S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.998	D	0.987	D	0.000	D	1.000	D	1.04	L	1.49	T	-0.985	T	0.138	T	0.247	3.387	17.43	6.16	2.367	7.603	16.806	0.117	0.00537194056177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5e-06	5.473e-06	6.84e-06	4.146e-06	6.306e-06	2.37e-06	1.71e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.306e-06	1.665e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	0.12246	T	0.885	0.73220	P	0.406	0.77487	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.534	0.59732	-0.9847	0.33903	T	0.138	0.45583	T	10	0.3700006	0.53401	T	0.005372	0.13771	T	.	.	.	.	0.284112513307	0.28011	0.7450470202332026	0.74450	.	.	0.736869096756	0.72512	T	.	.	.	-0.0462818	0.45009	T	-0.304257	0.44272	T	0.94986617565155	0.63208	D	0.876912	0.59215	D	0.3382255	0.56137	0.28868425	0.54886	0.3382255	0.56137	0.28868425	0.54885	-3.472	0.29786	T	.	.	0.115	0.51618	B	.;.;.	.;.;.	3.516863	0.49280	22.8	0.99499003482864179	0.67916	0.98917	0.88597	D	AEFGI	0.949628	0.96245	D	0.593273878875372	0.72752	5.855752	0.671104790417154	0.80192	7.244284	0.999999999964593	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	6.16	6.16	0.99302	7.580000	0.81812	7.834000	0.70237	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.806	0.85530	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1363.98	34	chr13	71630678	.	T	C	1363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=805;ExcessHet=0.0000;FS=3.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.428e+00;SOR=1.121	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1378,0,1404	20	0	1	0
chr13	107866341	107866341	-	CTG	exonic	FAM155A	.	nonframeshift insertion	FAM155A:NM_001080396:exon1:c.255_256insCAG:p.Q86_R87insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1471.36	38	chr13	107866338	.	TCTG	TCTGCTG,T	1471.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-4.500e-02;DP=878;ExcessHet=0.3300;FS=0.598;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=0.033;SOR=0.636	GT:AD:DP:GQ:PL	0/2:72,0,7:79:57:57,274,3207,0,2933,2912	18	0	1	0
chr13	108820362	108820362	T	A	exonic	MYO16	.	nonsynonymous SNV	MYO16:NM_001198950:exon8:c.T893A:p.M298K	.	.	431	1079	11	1	0	13	0.00598802	.	.	702573	MYO16-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.007	B	0.005	B	0.205	U	1.000	D	-1.085	N	0.04	T	-1.114	T	0.035	T	0.477	0.662	7.548	3.31	0.450	0.189	7.787	0.106	.	0.0010	0.0061901	0.0095	0.0015	0.0688	0	0	0.0020	0.0037	0.0084	0.0052069	805	154602	rs149704651	0.0025	0.0026	0.0025	0.0026	0.0391	0.0025	0.0024	0.0376	0.0369	0.0007	0.0391	0.0036	5.144e-05	1.888e-05	0.0042	0.0009	0.0031	0.0072	0.0048	0.0048	0.0042	0.0055	0.0374	0.0045	0.0044	0.0348	0.0338	0.0011	0	0.0374	0.0040	0.0002	0	0.0034	0.0009	0.0038	0.0062	0.692	0.04277	T	0.911	0.02952	T	0.007	0.14184	B	0.005	0.11217	B	0.205379	0.16496	U	0.486578	0.819851	0.28896	N	-1.585	0.00443	N	0.04	0.62051	T	0.22	0.15578	N	0.515	0.56489	-1.1138	0.02763	T	0.035	0.15160	T	9	0.0034356713	0.00060	T	.	.	.	0.106	0.30130	.	.	0.27715347029	0.27323	0.5134021084500362	0.51262	0.286963924779	0.31096	0.455572128296	0.32704	T	0.002097	0.04028	T	-0.451041	0.01114	T	-0.390678	0.34471	T	0.00666718737543767	0.00075	T	.	.	.	0.132447	0.30839	0.1200902	0.28984	0.15821064	0.35606	0.1200902	0.28983	-3.239	0.12963	T	.	.	0.112	0.21950	B	.;.;.;.	.;.;.;.	0.935500	0.13111	9.612	0.7729512424577818	0.11817	0.67240	0.33361	D	AEFGI	0.157255	0.28274	N	-0.698731353460946	0.16058	0.8147977	-0.492521327989118	0.22359	1.214038	0.118286412907885	0.16820	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	3.31	0.37025	0.185000	0.16767	0.417000	0.18177	0.665000	0.62972	0.795000	0.29657	0.846000	0.27345	0.978000	0.57271	0.0:0.1541:0.0:0.8459	7.787	0.28259	906	0.23090	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1287.98	45	chr13	108820362	.	T	A	1287.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.200e-01;DP=982;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-1.439e+00;SOR=0.645	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1302,0,1273	20	0	1	0
chr13	110456904	110456904	-	TCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCA	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.820_821insTGCACGGCATCAGCCCCACGGACGCCTGGGGTCCCACGCAGA:p.Q273_T274insMHGISPTDAWGPTQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0006	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0	3.862e-05	0	0	9.326e-05	0	0.0002	6.699e-05	0.0002	0.0003	0.0007	0.0003	0.0003	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0.0006	0.0002	0.0001	0	0.0004	0.0005	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	74.94	68	chr13	110456904	.	G	GTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCA	74.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e-01;DP=1219;ExcessHet=0.0000;FS=1.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.79;MQRankSum=2.00;QD=2.34;ReadPosRankSum=1.44;SOR=1.270	GT:AD:DP:GQ:PL	0/1:25,7:32:89:89,0,653	20	0	1	0
chr13	110879895	110879897	CTC	-	exonic	ANKRD10	.	nonframeshift deletion	ANKRD10:NM_017664:exon6:c.1003_1005del:p.E335del,	.	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00319489	0.0036	0.0012	0.0162	0.0001	0.0015	0.0024	0.0033	0.0033	0.0007684	20	26028	rs552936641	0.0034	0.0034	0.0035	0.0033	0.0161	0.0034	0.0033	0.0152	0.0148	0.0008	0.0161	0.0003	0.0001	0.0012	0.0075	0.0032	0.0037	0.0038	0.0033	0.0033	0.0034	0.0031	0.0101	0.0030	0.0029	0.0088	0.0083	0.0014	0	0.0101	0.0003	0.0002	0.0016	0.0068	0.0036	0.0014	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3917.94	34	chr13	110879894	.	TCTC	T	3917.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.063;DP=899;ExcessHet=0.0000;FS=0.540;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.06;ReadPosRankSum=0.432;SOR=0.775	GT:AD:DP:GQ:PL	0/1:86,100:186:99:3932,0,3301	20	0	1	0
chr13	113453280	113453280	C	T	exonic	ADPRHL1	.	stopgain	ADPRHL1:NM_138430:exon1:c.G158A:p.W53X,	.	.	423	1098	1	0	0	1	0.000455166	.	.	713850	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	5.919	36	5.6	2.639	7.119	19.599	.	.	7.7e-05	0.000199681	0.0006	0	8.639e-05	0	0	9.001e-05	0.0033	0.0038	0.0004722	73	154602	rs200853560	0.0003	0.0003	0.0002	0.0005	0.0041	0.0003	0.0003	0.0037	0.0036	0.0001	0.0002	7.652e-05	0	0	0.0010	6.565e-05	0.0003	0.0041	0.0001	0.0001	0.0001	0.0001	0.0017	9.738e-05	8.253e-05	0.0008	0.0006	9.621e-05	0	0.0002	0	0	0	0.0068	4.411e-05	0.0009	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.094	0.25499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244532	0.78088	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	9.832528	0.99357	43	0.99484978345732045	0.67124	0.98137	0.79915	D	AEFDBCI	0.277312	0.39185	N	0.847314957826943	0.88955	9.77712	0.705009070416115	0.82760	7.847278	1.0	0.98316	0.421363	0.06395	0	0.379588	0.06130	0	0.536957	0.11973	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	7.199000	0.77351	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.183000	0.21389	0.0:1.0:0.0:0.0	19.599	0.95546	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1390.98	35	chr13	113453280	.	C	T	1390.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=833;ExcessHet=0.0000;FS=2.329;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.590e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/1:71,54:125:99:1405,0,1776	20	0	1	0
chr14	19713214	19713214	G	T	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.C703A:p.L235I,	.	.	490	1002	29	0	1	30	0.0142646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0043	0.0183	0.0016	0.0007	0.0061	0.0021	0.0055	0.0079	0.0005379	14	26028	rs11625510	0.0006	0.0020	0.0005	0.0007	0.0081	0.0006	0.0006	0.0073	0.0070	0.0081	0.0014	7.672e-05	0.0001	0.0001	0.0024	0.0002	0.0012	0.0037	0.0035	0.0071	0.0034	0.0036	0.0100	0.0033	0.0032	0.0091	0.0088	0.0100	0	0.0041	0.0003	0.0010	0.0007	0	0.0003	0.0041	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.25	0.63811	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014848262	0.00312	T	.	.	.	.	.	.	.	0.137902524267	0.13322	0.038699843034994984	0.03815	.	.	0.206101313233	0.00656	T	0.017617	0.14339	T	-0.365507	0.03828	T	-0.291687	0.45596	T	.	.	.	0.435056	0.11905	T	0.043666393	0.06845	0.06603164	0.13469	0.043666393	0.06844	0.06603164	0.13468	-7.403	0.56926	T	.	.	0.106	0.19639	B	.;.	.;.	1.839262	0.23369	15.99	0.48104264887094	0.03987	0.02495	0.06976	N	AEFI	.	.	.	.	.	.	.	.	.	1.96441500582416E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0629501	0.15071	1.26	1.26	0.20534	-0.278000	0.08523	-5.907000	0.01557	-1.117000	0.01478	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.245:0.0:0.755:0.0	3.672	0.07814	994	0.00715	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	0.075	4358.77	33	chr14	19713214	.	G	T	4358.77	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.674e+00;DP=1966;ExcessHet=0.3476;FS=4.030;InbreedingCoeff=-0.0811;MLEAC=3;MLEAF=0.075;MQ=37.58;MQRankSum=-1.061e+00;QD=7.05;ReadPosRankSum=-1.705e+00;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:116,12:128:99:.:.:100,0,3462	17	0	3	1
chr14	20435531	20435531	T	G	exonic	KLHL33	.	nonsynonymous SNV	KLHL33:NM_001365790:exon2:c.A281C:p.E94A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.772e-06	2.052e-06	0	5.869e-06	0.0001	7.4e-07	2.1e-07	1.788e-05	7.31e-06	0	0	0	0	0	0	0	2.279e-05	0.0001	1.313e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17820111	0.32893	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021227	0.16569	T	.	.	.	.	.	.	.	.	.	0.663934	0.27277	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18869	B	.;.	.;.	2.685570	0.35042	19.79	0.92660494599411525	0.22140	0.62483	0.31795	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999810401717182	0.43459	0.166803	0.03914	0	0.060609	0.00678	0	0.182457	0.04408	0	0.075334	0.01956	0	0.417428	0.37994	4.86	3.69	0.41483	0.879000	0.27783	2.761000	0.34604	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0919:0.1825:0.7256	5.217	0.14668	946	0.12043	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	60.31	10	chr14	20435531	.	T	G	60.31	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=210;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0446;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-1.960e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:74:74,0,74	20	0	1	0
chr14	20641096	20641096	T	C	exonic	OR6S1	.	nonsynonymous SNV	OR6S1:NM_001001968:exon1:c.A596G:p.E199G,	.	.	425	1074	21	2	0	25	0.0115048	.	.	2810236	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	0.749	N	2.175	M	8.41	T	-0.880	T	0.001	T	0.398	3.456	17.71	5.62	2.124	2.196	13.771	0.147	.	0.0070	0.00359425	0.0063	0.0021	0.0029	0	0.0015	0.0091	0.0066	0.0055	0.0064423	996	154602	rs45592635	0.0086	0.0086	0.0088	0.0084	0.0100	0.0085	0.0084	0.0099	0.0098	0.0014	0.0027	0.0059	2.519e-05	0.0012	0.0097	0.0100	0.0085	0.0053	0.0056	0.0056	0.0061	0.0051	0.0095	0.0053	0.0052	0.0089	0.0086	0.0019	0	0.0042	0.0055	0	0.0015	0	0.0095	0.0057	0.0042	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000131	0.49741	D	0.000000	0.748761	0.29660	N	2.375	0.68372	M	8.41	0.00237	T	-6.53	0.91741	D	0.215	0.24010	-0.8805	0.49722	T	0.001	0.00408	T	10	0.0050638914	0.00109	T	.	.	.	0.147	0.38986	.	.	0.768534457903	0.76641	0.2993247951634364	0.29845	0.0838756158963	0.09456	0.273137480021	0.06553	T	0.00707	0.06489	T	-0.426911	0.01548	T	-0.375616	0.36235	T	0.0348115046460248	0.02776	T	0.456654	0.13107	T	0.9343526	0.94674	0.95187396	0.98511	0.9343526	0.94675	0.95187396	0.98512	-7.732	0.59230	D	.	.	0.396	0.59330	A	.	.	4.142514	0.62078	24.4	0.99908274315125167	0.97801	0.27992	0.23431	N	AEFBI	0.104860	0.20969	N	0.465654513934641	0.65096	4.779765	0.394452908253012	0.61221	4.319332	0.601825386677652	0.21732	0.421363	0.06395	0	0.550933	0.16991	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.62	5.62	0.85714	0.933000	0.28497	4.530000	0.43722	0.645000	0.52629	0.000000	0.06391	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	13.771	0.62511	940	0.13648	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1314.98	77	chr14	20641096	.	T	C	1314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.384e+00;DP=1970;ExcessHet=0.0000;FS=3.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-4.330e-01;SOR=1.091	GT:AD:DP:GQ:PL	0/1:73,50:123:99:1329,0,2096	20	0	1	0
chr14	23101513	23101513	G	T	exonic	LMLN2	.	nonsynonymous SNV	LMLN2:NM_001354640:exon13:c.C1528A:p.H510N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17401928	0.32259	T	.	.	.	.	.	.	.	.	.	0.11766489636346365	0.11693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381362	0.09225	T	0.07784265	0.17692	0.200126	0.43929	0.07784265	0.17692	0.200126	0.43928	-3.777	0.20461	T	.	.	0.192	0.41187	B	.;.	.;.	2.786941	0.36622	20.3	0.67460996746542579	0.08361	0.39750	0.26282	N	AEFDBIJ	.	.	.	.	.	.	.	.	.	0.999989759576928	0.51787	0.087844	0.02253	0	0.060609	0.00678	0	0.106748	0.03127	0	0.058706	0.01089	0	0.581119	0.40493	5.59	3.75	0.42236	1.344000	0.33547	4.484000	0.43545	0.676000	0.76740	0.908000	0.31627	1.000000	0.68203	0.967000	0.53440	0.164:0.1482:0.6878:0.0	6.480	0.21254	889	0.27310	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	33.07	45	chr14	23101513	.	G	T	33.07	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.240e-01;DP=45;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=6.61;ReadPosRankSum=0.674;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:34:34,0,78	5	0	1	15
chr14	23360011	23360011	C	T	exonic	EFS	.	nonsynonymous SNV	EFS:NM_001277174:exon3:c.G188A:p.R63Q	.	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	1.0	D	0.996	D	0.132	N	0.711	N	2.255	M	0.42	T	-0.853	T	0.167	T	0.042	2.989	15.97	2.4	0.823	1.506	5.783	0.144	.	0.0086	0.00898562	0.0032	0.0265	0.0040	0	0	0.0010	0.0100	0.0003	0.0030077	465	154602	rs2231804	0.0015	0.0015	0.0015	0.0014	0.0262	0.0014	0.0014	0.0247	0.0242	0.0262	0.0037	0.0025	0	3.855e-05	0.0074	0.0006	0.0038	0.0006	0.0090	0.0090	0.0090	0.0091	0.0269	0.0086	0.0084	0.0256	0.0250	0.0269	0	0.0099	0.0032	0	0	0.0071	0.0009	0.0133	0.0004	0.011	0.91255	D	0.455	0.38016	T	0.999	0.90584	D	0.978	0.84481	D	0.132467	0.18585	N	0.544164	0.999669	0.30017	N	2.36	0.67893	M	0.33	0.58323	T	-0.74	0.31576	N	0.186	0.28849	-0.8527	0.51781	T	0.167	0.50665	T	10	0.0030246377	0.00050	T	.	.	.	0.144	0.38394	.	.	0.736870547324	0.73451	0.3245234884685351	0.32365	0.142536895291	0.16080	0.486385941505	0.36937	T	0.075309	0.35147	T	-0.531149	0.00378	T	-0.514785	0.20825	T	0.00688037930454916	0.00078	T	0.910809	0.68911	D	0.107339226	0.25381	0.07507168	0.16489	0.107339226	0.25381	0.07507168	0.16489	-3.434	0.22888	T	.	.	0.089	0.14523	B	.;.;.	.;.;.	3.122078	0.42153	21.5	0.99935402087513536	0.99579	0.86863	0.46239	D	AEFBI	0.188058	0.31534	N	-0.0500458184607998	0.39600	2.337918	-0.12051940279549	0.34562	1.989595	0.937156599884856	0.27285	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.604944	0.38103	0	.	.	5.32	2.4	0.28568	0.852000	0.27417	3.262000	0.37098	0.599000	0.40250	0.439000	0.26479	0.998000	0.33993	0.823000	0.38780	0.1545:0.6795:0.0:0.1659	5.783	0.17581	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	0.02381	1034.98	33	chr14	23360011	.	C	T	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.163;DP=850;ExcessHet=0.0000;FS=3.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=-1.955e+00;SOR=0.421	GT:AD:DP:GQ:PL	0/1:64,43:107:99:1049,0,1693	20	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.008	B	0.009	B	0.000	D	0.996	D	0.97	L	2.67	T	-1.062	T	0.026	T	0.315	2.700	14.99	4.09	2.615	3.447	14.766	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3667	974.79	119	chr14	24300437	.	G	C	974.79	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-4.960e+00;DP=2462;ExcessHet=7.7275;FS=350.718;InbreedingCoeff=-0.4950;MLEAC=13;MLEAF=0.433;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.16;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,38:147:99:.:.:187,0,2880	4	0	11	6
chr14	30605680	30605680	A	G	exonic	G2E3	.	nonsynonymous SNV	G2E3:NM_001308097:exon10:c.A1048G:p.I350V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.022	B	0.031	B	0.000	D	0.997	N	0	N	1.02	T	-1.011	T	0.066	T	0.111	2.133	13.09	5.66	2.284	0.955	14.769	0.073	0.00496107734432	.	0.000599042	0.0003	0	0.0002	0	0	0	0.0022	0.0021	0.0002652	41	154602	rs548151985	0.0001	0.0001	6.829e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	2.243e-05	0	0	0	0	1.804e-06	0.0001	0.0022	4.596e-05	4.593e-05	6.424e-05	2.685e-05	0.0014	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.455	0.08865	T	1.0	0.01155	T	0.022	0.18677	B	0.031	0.21939	B	0.000093	0.51296	D	0.204204	0.996872	0.22872	N	0	0.06538	N	1.02	0.40749	T	0.18	0.05035	N	0.15	0.15749	-1.0112	0.26541	T	0.066	0.27295	T	10	0.009287387	0.00210	T	0.004961	0.12504	T	0.073	0.21317	0.39	0.41279	0.20808081866	0.20439	0.08060965911924925	0.07995	0.26868674241	0.29385	0.357084929943	0.18961	T	0.028577	0.20668	T	-0.57114	0.00218	T	-0.599347	0.12866	T	0.0610732779815142	0.07336	T	0.827917	0.49191	T	0.05275809	0.09887	0.05720629	0.10359	0.05275809	0.09886	0.05720629	0.10359	-3.421	0.15340	T	.	.	0.068	0.02733	B	.;.;.	.;.;.	1.311806	0.17150	12.99	0.98798090497686408	0.46413	0.76532	0.37542	D	AEFBI	0.174381	0.30151	N	-0.236590623106031	0.31642	1.776328	-0.0156268251218499	0.39009	2.306503	0.999890208304197	0.45129	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.66	5.66	0.87293	0.946000	0.28667	1.840000	0.29181	0.752000	0.88150	0.770000	0.29357	0.413000	0.24769	0.993000	0.69303	1.0:0.0:0.0:0.0	14.769	0.69287	915	0.20917	HECT domain;HECT domain;HECT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2069.98	36	chr14	30605680	.	A	G	2069.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=842;ExcessHet=0.0000;FS=2.095;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.796;SOR=0.911	GT:AD:DP:GQ:PL	0/1:65,82:147:99:2084,0,1483	20	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.000	D	1.000	D	0.805	L	-3.44	D	0.114	D	0.666	D	0.186	0.389	6.113	5.8	2.219	4.529	9.930	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	2608.12	67	chr14	58213644	.	T	C	2608.12	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.303e+00;DP=1500;ExcessHet=54.0936;FS=246.126;InbreedingCoeff=-0.9696;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=1.77;ReadPosRankSum=0.737;SOR=12.205	GT:AD:DP:GQ:PL	0/1:65,25:90:50:50,0,1269	0	0	21	0
chr14	58407376	58407376	G	A	exonic	TOMM20L	.	nonsynonymous SNV	TOMM20L:NM_207377:exon4:c.G313A:p.E105K,	.	.	430	1091	1	0	0	1	0.000458085	.	.	2329758	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.012	B	0.003	B	0.358	N	0.995	N	0.345	N	1.53	T	-1.023	T	0.034	T	0.172	1.431	10.72	1.92	0.225	0.781	1.754	0.034	0.00588627036843	0.0002	0.000199681	0.0002	0	0.0003	0	0	0.0002	0.0011	0.0006	0.0002005	31	154602	rs141434824	0.0002	0.0002	0.0002	0.0003	0.0013	0.0002	0.0002	0.0011	0.0010	0	0.0002	0	5.048e-05	0	0.0002	0.0002	0.0002	0.0013	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0008	0.0006	7.216e-05	0	0.0012	0	0	0	0	0.0002	0.0005	0.0014	0.011	0.55530	D	0.369	0.16522	T	0.012	0.16265	B	0.003	0.08700	B	0.357595	0.13719	N	0.636489	0.994702	0.23461	N	0.895	0.22405	L	1.53	0.30401	T	-0.28	0.11547	N	0.18	0.19459	-1.0232	0.22671	T	0.034	0.14421	T	10	0.016920984	0.00358	T	0.005886	0.15310	T	0.034	0.08419	.	.	0.0297737177859	0.01360	0.1804886447767995	0.17967	0.570027948751	0.53169	0.303354918957	0.10903	T	0.020022	0.15839	T	-0.483356	0.00707	T	-0.531839	0.19103	T	0.11433757096529	0.13868	T	0.749425	0.37065	T	0.12472191	0.29255	0.07295616	0.15800	0.12472191	0.29255	0.07295616	0.15800	-4.235	0.27255	T	.	.	0.090	0.12702	B	.	.	1.440762	0.18602	13.83	0.9913629225239915	0.53410	0.54850	0.29717	D	AEFBI	0.100906	0.20280	N	-0.833811844005429	0.12451	0.6070487	-0.732494331438149	0.16154	0.8531759	0.661844973568518	0.22279	0.421363	0.06395	0	0.550933	0.16991	0	0.463624	0.06942	0	0.613276	0.41899	0	.	.	4.77	1.92	0.24912	0.808000	0.26813	1.722000	0.28267	-0.722000	0.03793	0.779000	0.29461	0.989000	0.31174	0.020000	0.11549	0.1785:0.1641:0.4877:0.1697	1.754	0.02798	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1303.98	35	chr14	58407376	.	G	A	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=0.071;SOR=0.726	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1318,0,1322	20	0	1	0
chr14	59464190	59464190	G	T	exonic	GPR135	.	nonsynonymous SNV	GPR135:NM_022571:exon1:c.C1037A:p.P346H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	3.365	M	-1.37	T	0.665	D	0.730	D	0.901	3.874	19.69	3.53	1.057	5.271	14.379	0.837	0.551111721742	.	.	4.458e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs751542766	1.784e-05	1.779e-05	8.193e-06	2.757e-05	0.0003	1.241e-05	1.054e-05	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	6.598e-06	6.58e-06	0	1.351e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	0.999502	0.47320	D	3.895	0.96086	H	-1.37	0.80214	T	-8.31	0.96992	D	0.733	0.73375	0.665	0.92739	D	0.730	0.90751	D	10	0.9271412	0.92060	D	0.551112	0.95862	D	0.837	0.94877	0.776	0.90157	0.850045053	0.84860	0.9199555592192628	0.91971	.	.	0.610234022141	0.54349	T	0.378147	0.74118	T	0.200091	0.73898	D	0.355617	0.90537	D	0.99738222360611	0.91430	D	0.754325	0.37688	T	0.93274856	0.94512	0.91527253	0.96063	0.93274856	0.94513	0.91527253	0.96064	-15.221	0.96350	D	.	.	0.964	0.88546	P	.	.	4.726637	0.76090	26.4	0.99668684346995662	0.78458	0.90885	0.52445	D	AEFDGBHCI	0.667522	0.63561	D	0.688853024977393	0.78903	6.966031	0.557226904453884	0.71900	5.726067	0.999999999998781	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.56751	0.32155	0	.	.	4.44	3.53	0.39533	4.860000	0.62659	8.629000	0.77845	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.1491:0.8509:0.0	14.379	0.66465	783	0.47268	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2478.98	37	chr14	59464190	.	G	T	2478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.778e+00;DP=884;ExcessHet=0.0000;FS=3.645;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=0.981;SOR=0.997	GT:AD:DP:GQ:PL	0/1:84,91:175:99:2493,0,2420	20	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.021	B	0.012	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.084	T	0.073	T	0.364	1.006	9.108	3.35	0.508	0.640	7.200	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	4406.61	113	chr14	64158707	.	T	C	4406.61	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-3.043e+00;DP=2681;ExcessHet=14.4320;FS=209.673;InbreedingCoeff=-0.5275;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.08;SOR=12.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,54:141:99:.:.:389,0,1429	6	0	14	1
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.325	B	0.108	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.072	T	0.088	T	0.327	1.982	12.59	4.86	1.535	3.990	14.318	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	1661.7	40	chr14	64158708	.	G	A,C	1661.7	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.900e+00;DP=1564;ExcessHet=1.1607;FS=200.874;InbreedingCoeff=-0.1364;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=2.84;ReadPosRankSum=1.79;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,35,5:142:24:.:.:24,0,1876,303,2107,3101	16	0	4	0
chr14	64158708	64158708	G	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876C:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.325	B	0.108	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.072	T	0.088	T	0.327	1.862	12.18	4.86	1.535	3.990	14.318	0.077	0.0083565949609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.2520115	0.42548	T	0.008357	0.22130	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.26592724106991794	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102008	0.36092	T	-0.384304	0.35219	T	0.651877224445343	0.38542	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.298733	0.29410	18.11	0.97187594042519665	0.32749	0.88851	0.48981	D	AEFGBI	0.256398	0.37533	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	1661.7	40	chr14	64158708	.	G	A,C	1661.7	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.900e+00;DP=1564;ExcessHet=1.1607;FS=200.874;InbreedingCoeff=-0.1364;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=2.84;ReadPosRankSum=1.79;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,35,5:142:24:.:.:24,0,1876,303,2107,3101	16	0	4	0
chr14	64162271	64162271	A	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon88:c.A16294T:p.I5432L	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	0.455	N	1.000	N	0.145	N	4.19	T	-0.977	T	0.048	T	0.213	1.541	11.11	-5.85	-0.908	0.096	5.482	0.037	0.015830036589	.	.	1.652e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs776776711	6.841e-06	6.84e-06	0	1.375e-05	0.0001	3.46e-06	2.52e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.13566	T	0.178	0.29639	T	0.001	0.07471	B	0.003	0.08700	B	0.454587	0.12465	N	0.727962	0.999948	0.19238	N	0.98	0.24916	L	0.82	0.54911	T	-0.64	0.21644	N	0.264	0.30118	-0.9771	0.35660	T	0.048	0.20513	T	10	0.040448457	0.02615	T	0.01583	0.36777	T	0.037	0.09474	0.368	0.37687	0.130388298395	0.12655	0.22553616352144962	0.22468	0.048090025717	0.05242	0.268680095673	0.05970	T	0.007566	0.23683	T	-0.331669	0.05987	T	-0.511542	0.21157	T	0.0240922885232769	0.01157	T	0.655934	0.26583	T	0.035975557	0.04338	0.03115661	0.01666	0.035975557	0.04337	0.03115661	0.01666	-3.088	0.13328	T	.	.	0.104	0.18828	B	.;.;.;.;.	.;.;.;.;.	0.934373	0.13100	9.600	0.86290826175600877	0.16438	0.15292	0.18840	N	AEFDGBI	0.046152	0.07630	N	-1.15889593486356	0.05635	0.2574032	-1.1013830788003	0.07674	0.3742106	0.797743663270645	0.24130	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.84	-5.85	0.02121	0.155000	0.16180	-0.695000	0.07821	0.756000	0.94297	0.729000	0.28913	0.000000	0.08366	0.875000	0.41745	0.2601:0.0:0.413:0.3269	5.482	0.16024	543	0.72751	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	691.98	37	chr14	64162271	.	A	T	691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=757;ExcessHet=0.0000;FS=6.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.89;ReadPosRankSum=0.201;SOR=1.552	GT:AD:DP:GQ:PL	0/1:44,26:70:99:706,0,1208	20	0	1	0
chr14	67575824	67575824	G	A	exonic	PLEKHH1	.	nonsynonymous SNV	PLEKHH1:NM_020715:exon16:c.G2171A:p.R724Q,	.	.	424	1097	1	0	0	1	0.000455581	0.9655	0.642	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.927	P	0.309	B	0.006	N	1.000	D	0	N	2.01	T	-1.057	T	0.025	T	0.392	3.748	19.03	3.98	2.687	4.600	12.288	0.095	.	.	0.00339457	0.0009	0	0	0	0	6.494e-05	0	0.0069	0.0007697	119	154602	rs532622152	0.0004	0.0004	0.0002	0.0006	0.0061	0.0004	0.0004	0.0056	0.0055	0	2.242e-05	0.0006	0	1.874e-05	0.0002	2.43e-05	0.0005	0.0061	0.0003	0.0003	8.994e-05	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	2.406e-05	0	0	0.0003	0	0	0	2.94e-05	0.0005	0.0070	0.291	0.14945	T	0.292	0.20877	T	0.927	0.51527	P	0.309	0.41361	B	0.005699	0.32589	N	0.297007	0.63194	0.30691	N	0	0.06538	N	2.01	0.21291	T	-0.31	0.12099	N	0.345	0.38643	-1.0568	0.12569	T	0.025	0.10688	T	10	0.008401394	0.00191	T	.	.	.	0.095	0.27398	.	.	0.288727942641	0.28479	0.27019708801561126	0.26932	0.325923819181	0.34745	0.309935241938	0.11898	T	0.00358	0.02990	T	-0.454083	0.01068	T	-0.422839	0.30751	T	0.0589658636341299	0.07004	T	0.941006	0.77964	D	0.07077632	0.15617	0.042524096	0.05083	0.07077632	0.15617	0.042524096	0.05082	-4.736	0.33836	T	.	.	0.089	0.12132	B	.	.	3.884081	0.56469	23.7	0.99911289754957056	0.98095	0.91667	0.54008	D	ALL	0.841940	0.75909	D	0.192805580616519	0.50852	3.271494	0.302032464577488	0.55660	3.728762	0.99982412738937	0.43622	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.63947	0.58350	0	.	.	4.87	3.98	0.45383	4.631000	0.61002	3.844000	0.40055	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0828:0.0:0.9172:0.0	12.288	0.54122	274	0.89249	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	0.02381	976.98	40	chr14	67575824	.	G	A	976.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=909;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-1.082e+00;SOR=0.616	GT:AD:DP:GQ:PL	0/1:37,38:75:99:991,0,864	20	0	1	0
chr14	67767816	67767816	C	A	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon31:c.G5678T:p.S1893I,	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	.	2	1505	15	0	0	15	0.00495868	.	.	186193	not_provided|not_specified|Spastic_paraplegia|Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_15	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.995	D	0.77	P	0.005	N	0.996	N	1.87	L	1.66	T	-1.025	T	0.067	T	0.15	1.840	12.11	1.56	0.008	0.714	2.320	0.075	.	0.0075	0.00479233	0.0081	0.0013	0.0066	0	0.0183	0.0103	0.0176	0.0038	0.0078071	1207	154602	rs34952009	0.0083	0.0083	0.0083	0.0084	0.0092	0.0082	0.0082	0.0083	0.0083	0.0014	0.0058	0.0194	2.519e-05	0.0191	0.0092	0.0085	0.0086	0.0038	0.0070	0.0070	0.0070	0.0071	0.0091	0.0067	0.0065	0.0085	0.0083	0.0015	0.0044	0.0054	0.0184	0	0.0192	0.0068	0.0091	0.0085	0.0019	0.228	0.26740	T	0.046	0.49663	D	0.995	0.67487	D	0.77	0.56828	P	0.005344	0.32875	N	0.374659	0.888876	0.27918	N	.	.	.	1.66	0.30669	T	-0.72	0.27259	N	0.29	0.41459	-1.0254	0.21952	T	0.067	0.27399	T	10	0.005324453	0.00117	T	.	.	.	0.075	0.21907	.	.	0.245660935333	0.24156	0.3697957229535575	0.36893	0.275694094207	0.30043	0.360373139381	0.19440	T	0.026196	0.19435	T	-0.552594	0.00281	T	-0.558578	0.16509	T	0.0131855870363913	0.00233	T	0.717128	0.32987	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.17869	B	.;.	.;.	1.825842	0.23202	15.92	0.99238611775217189	0.56469	0.87055	0.46482	D	AEFGBI	0.088247	0.17890	N	-0.217329191195304	0.32423	1.828335	-0.341678853600244	0.26766	1.480646	0.939167708062389	0.27375	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.63	1.56	0.22423	0.740000	0.25856	1.437000	0.26495	-0.193000	0.09282	0.872000	0.30832	1.000000	0.68203	0.302000	0.24547	0.2637:0.4565:0.1283:0.1516	2.320	0.03950	183	0.92871	.;.	.	.	.	.	.	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	0.02381	1706.98	40	chr14	67767816	.	C	A	1706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.300e-01;DP=959;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=0.889;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,70:152:99:0|1:67767816_C_A:1721,0,2027:67767816	20	0	1	0
chr14	69572464	69572464	C	A	exonic	CCDC177	.	nonsynonymous SNV	CCDC177:NM_001271507:exon2:c.G1159T:p.A387S,	.	.	405	1105	12	0	0	12	0.00540054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135353540285	.	.	.	.	.	.	.	.	.	.	0.0013447	35	26028	rs971462943	0.0039	0.0029	0.0039	0.0040	0.0042	0.0038	0.0038	0.0041	0.0041	0.0004	0.0022	0.0067	0	0.0020	0.0021	0.0042	0.0032	0.0012	0.0023	0.0023	0.0023	0.0023	0.0039	0.0021	0.0020	0.0035	0.0034	0.0003	0	0.0018	0.0049	0	0.0016	0.0137	0.0039	0.0014	0.0008	.	.	.	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04	0.26193	L	1.88	0.23884	T	.	.	.	0.062	0.03392	.	.	.	.	.	.	.	0.03376448	0.01562	T	0.135354	0.81781	D	.	.	.	.	0.231231049324	0.22751	0.022871099289075856	0.02239	.	.	0.874193251133	0.93162	D	0.010936	0.09820	T	-0.602508	0.00141	T	-0.641288	0.09575	T	.	.	.	0.738626	0.35686	T	0.11212925	0.26491	0.37037072	0.62288	0.11212925	0.26491	0.37037072	0.62288	-5.263	0.39576	T	.	.	0.159	0.35162	B	.	.	3.009663	0.40247	21.1	0.85119148668791023	0.15697	0.79651	0.39511	D	AEFDGBHCI	0.275554	0.39049	N	.	.	.	.	.	.	0.999955461734115	0.48110	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.91	2.0	0.25495	2.677000	0.46558	2.024000	0.30222	0.462000	0.21616	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.3202:0.6798:0.0:0.0	11.775	0.51251	409	0.82198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	424.98	25	chr14	69572464	.	C	A	424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=710;ExcessHet=0.0000;FS=1.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=-5.920e-01;SOR=1.270	GT:AD:DP:GQ:PL	0/1:16,13:29:99:439,0,506	20	0	1	0
chr14	69573090	69573092	GCG	-	exonic	CCDC177	.	nonframeshift deletion	CCDC177:NM_001271507:exon2:c.531_533del:p.A180del,	.	.	481	42	22	831	146	1830	0.952489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	15285.35	10	chr14	69573086	.	CGCGGCG	C,CGCG	15285.35	.	AC=40,2;AF=0.952,0.048;AN=42;DP=467;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=60.00;QD=30.04;SOR=1.246	GT:AD:DP:GQ:PL	1/1:0,23,0:23:69:1011,69,0,1011,69,1011	0	19	0	0
chr14	73284134	73284134	T	C	exonic	NUMB	.	nonsynonymous SNV	NUMB:NM_001005745:exon9:c.A863G:p.N288S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.999	D	0.000	D	1.000	D	1.87	L	1.32	T	-0.460	T	0.340	T	0.203	4.687	25.9	5.26	2.215	7.836	15.340	0.295	0.0420905000671	.	.	0.0002	0	0	0	0	0	0	0.0018	0.0001876	29	154602	rs755961777	0.0001	0.0001	6.262e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	2.987e-05	0	0	2.519e-05	0	0	3.597e-06	4.967e-05	0.0022	5.256e-05	5.253e-05	3.853e-05	6.726e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.041	0.43393	D	0.16	0.37449	T	0.999	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.1	0.58353	M	0.33	0.58323	T	-2.95	0.64939	D	0.728	0.81957	-0.4595	0.70084	T	0.340	0.70640	T	10	0.34412116	0.51411	T	0.042091	0.60282	D	0.295	0.61502	0.703	0.83962	0.829019804353	0.82740	0.44823530114897525	0.44741	1.61877923899	0.89039	0.6259136796	0.56566	T	0.80246	0.94978	D	-0.376091	0.03297	T	-0.320269	0.42545	T	0.204057228274395	0.20638	T	0.986301	0.95349	D	0.27812845	0.50868	0.2155412	0.46147	0.27812845	0.50867	0.2155412	0.46146	-5.16	0.38533	T	.	.	0.093	0.22354	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.788878	0.77693	26.8	0.99887213302276423	0.96204	0.97428	0.74687	D	ALL	0.939243	0.93958	D	0.720448691051847	0.80971	7.414577	0.709714134687903	0.83116	7.938188	0.999999999999992	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.648423	0.49468	0	0.733575	0.97253	0	.	.	5.26	5.26	0.73479	7.805000	0.84566	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.340	0.73999	719	0.55657	NUMB domain;NUMB domain;NUMB domain;NUMB domain;NUMB domain;NUMB domain;NUMB domain;NUMB domain;NUMB domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2378.98	38	chr14	73284134	.	T	C	2378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.41;DP=939;ExcessHet=0.0000;FS=2.298;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=1.39;SOR=0.631	GT:AD:DP:GQ:PL	0/1:134,92:226:99:2393,0,3323	20	0	1	0
chr14	73595601	73595601	T	G	exonic	ACOT4	.	nonsynonymous SNV	ACOT4:NM_152331:exon3:c.T1213G:p.F405V,	.	.	.	.	.	.	.	.	.	.	.	2684692	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.985	D	0.000	D	1.000	D	3.15	M	-0.23	T	0.279	D	0.554	D	0.938	4.223	21.9	5.74	2.196	7.239	15.698	0.783	0.147164109299	.	.	0.0001	0.0003	8.682e-05	0.0001	0	3.1e-05	0	0.0004	3.84e-05	1	26028	rs751168912	4.179e-05	4.31e-05	3.909e-05	4.458e-05	0.0003	3.291e-05	3.014e-05	0.0002	0.0002	0.0002	2.573e-05	4.225e-05	0	1.918e-05	0	1.936e-05	6.902e-05	0.0003	0.0001	0.0001	0.0001	0.0001	0.0004	7.577e-05	6.282e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	2.94e-05	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	0.996	0.68779	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.4	0.91674	M	-0.23	0.66652	T	-6.21	0.90411	D	0.903	0.90363	0.279	0.87220	D	0.554	0.83719	D	10	0.95242786	0.94585	D	0.147164	0.82921	D	0.783	0.92787	.	.	0.812901060568	0.81114	0.8469126153224297	0.84652	0.985386728939	0.73877	0.493685394526	0.37950	T	0.150638	0.49020	T	0.138886	0.68219	D	0.27788	0.87006	D	0.917407810688019	0.57523	D	0.707329	0.31793	T	0.877696	0.89479	0.71829736	0.83370	0.877696	0.89480	0.71829736	0.83370	-13.75	0.92216	D	.	.	0.549	0.66760	A	.	.	4.794470	0.77846	26.8	0.9912784416833591	0.53169	0.99512	0.96919	D	AEFGI	0.877638	0.80241	D	0.75959796206848	0.83528	8.041174	0.665963536764014	0.79804	7.160471	0.999999958905449	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.74	5.74	0.90070	7.248000	0.77702	4.604000	0.44009	-0.192000	0.09343	1.000000	0.71638	1.000000	0.68203	0.394000	0.26647	0.0:0.0:0.0:1.0	15.698	0.77274	256	0.89942	BAAT/Acyl-CoA thioester hydrolase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1307.98	44	chr14	73595601	.	T	G	1307.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=869;ExcessHet=0.0000;FS=1.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=-7.600e-01;QD=24.22;ReadPosRankSum=-8.790e-01;SOR=0.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,33:54:99:0|1:73595601_T_G:1322,0,782:73595601	20	0	1	0
chr14	73595602	73595602	T	C	exonic	ACOT4	.	nonsynonymous SNV	ACOT4:NM_152331:exon3:c.T1214C:p.F405S,	.	.	.	.	.	.	.	.	.	.	.	2684693	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.000	D	1.000	D	3.15	M	-0.24	T	0.285	D	0.558	D	0.953	4.232	22.0	5.74	2.196	7.239	15.698	0.804	0.157589331518	.	.	0.0001	0.0003	8.682e-05	0.0001	0	3.101e-05	0	0.0005	9.06e-05	14	154602	rs757062870	4.252e-05	4.446e-05	4.05e-05	4.461e-05	0.0003	3.361e-05	3.024e-05	0.0002	0.0002	0.0002	2.582e-05	4.239e-05	2.568e-05	1.919e-05	0	1.937e-05	6.907e-05	0.0003	0.0001	0.0001	0.0001	0.0001	0.0004	7.577e-05	6.282e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	2.94e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.4	0.91674	M	-0.24	0.66834	T	-7.19	0.94196	D	0.946	0.95374	0.285	0.87314	D	0.558	0.83864	D	10	0.97123414	0.96731	D	0.157589	0.83814	D	0.804	0.93621	.	.	0.827554761429	0.82592	0.91825982157752	0.91801	1.23396651691	0.81424	0.513931810856	0.40773	T	0.236188	0.60361	T	0.143889	0.68693	D	0.286983	0.87492	D	0.941810786724091	0.61542	D	0.892211	0.62852	D	0.915564	0.92819	0.9133235	0.95925	0.915564	0.92820	0.9133235	0.95925	-12.922	0.89039	D	.	.	0.856	0.80063	P	.	.	5.068600	0.84520	28.3	0.99885228565983386	0.96049	0.99472	0.96450	D	AEFGI	0.905154	0.85633	D	0.770248295502896	0.84217	8.226328	0.678760406730287	0.80769	7.373135	0.999999958905449	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.74	5.74	0.90070	7.248000	0.77702	4.577000	0.43904	-0.192000	0.09343	1.000000	0.71638	1.000000	0.68203	0.403000	0.26849	0.0:0.0:0.0:1.0	15.698	0.77274	256	0.89942	BAAT/Acyl-CoA thioester hydrolase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1307.98	44	chr14	73595602	.	T	C	1307.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.978e+00;DP=869;ExcessHet=0.0000;FS=1.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=-7.600e-01;QD=24.22;ReadPosRankSum=-9.410e-01;SOR=0.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,33:54:99:0|1:73595601_T_G:1322,0,782:73595601	20	0	1	0
chr14	74358253	74358253	C	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.C1470A:p.D490E,	.	.	419	1038	61	4	0	69	0.0321678	.	.	714232	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.156	N	1.000	N	0	N	1.02	T	-0.997	T	0.020	T	0.006	-3.049	0.001	-6.98	-1.897	-2.987	3.018	0.031	.	0.0028	0.00579073	0.0075	0.0009	0.0057	0.0001	0.0005	0.0060	0.0172	0.0245	0.0063324	979	154602	rs45500395	0.0053	0.0053	0.0045	0.0061	0.0380	0.0052	0.0052	0.0339	0.0323	0.0017	0.0054	0.0246	7.57e-05	0.0005	0.0380	0.0036	0.0069	0.0248	0.0044	0.0044	0.0040	0.0047	0.0251	0.0041	0.0040	0.0214	0.0201	0.0009	0	0.0056	0.0239	0.0002	0.0003	0.0272	0.0045	0.0095	0.0251	0.913	0.02349	T	0.46	0.12597	T	0.0	0.02946	B	0.0	0.01387	B	0.155817	0.17819	N	0.521574	1	0.08975	N	0.55	0.14455	N	1.02	0.40749	T	0.37	0.03639	N	0.017	0.00226	-0.9971	0.30728	T	0.020	0.08500	T	10	0.002757728	0.00043	T	.	.	.	0.031	0.07369	0.093	0.01151	0.043077524339	0.03247	0.20745129742837223	0.20661	0.40891498354	0.41719	0.289120614529	0.08794	T	0.010456	0.09443	T	-0.727529	0.00025	T	-0.798897	0.01930	T	0.00100007721668825	0.00010	T	0.194281	0.02108	T	0.08663903	0.20147	0.026262786	0.00706	0.08663903	0.20146	0.026262786	0.00706	-2.211	0.04094	T	.	.	0.093	0.13876	B	.	.	-2.672347	0.00021	0.001	0.21223961864604715	0.00799	0.04030	0.09467	N	AEFDBCI	0.036499	0.04872	N	-2.07478394950839	0.00145	0.00622438	-2.132926700732	0.00158	0.006943154	0.999999953199564	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.542086	0.14980	0	.	.	3.89	-6.98	0.01454	-3.080000	0.00676	-4.396000	0.02178	-0.979000	0.01905	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2059:0.4317:0.1323:0.2301	3.018	0.05698	269	0.89438	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	4734.68	78	chr14	74358253	.	C	A	4734.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.82;DP=974;ExcessHet=0.3300;FS=4.375;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=0.449;SOR=0.941	GT:AD:DP:GQ:PL	0/1:77,60:137:99:1682,0,2188	18	0	3	0
chr14	77027445	77027445	C	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6562	12393.38	37	chr14	77027445	.	C	T,*	12393.38	.	AC=20,1;AF=0.625,0.031;AN=32;BaseQRankSum=0.947;DP=915;ExcessHet=1.6165;FS=2.187;InbreedingCoeff=-0.1019;MLEAC=23,1;MLEAF=0.719,0.031;MQ=59.99;MQRankSum=0.00;QD=28.23;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,20,0:20:60:1|1:77027445_C_T:878,60,0,878,60,879:77027445	1	6	8	5
chr14	77027448	77027451	CTGT	0	exonic	IRF2BPL	.	.	.	.	.	513	390	392	223	4	842	0.517923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12349.48	37	chr14	77027448	.	CTGT	C,*	12349.48	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.24;DP=882;ExcessHet=0.5132;FS=2.187;InbreedingCoeff=0.1429;MLEAC=20,1;MLEAF=0.476,0.024;MQ=59.99;MQRankSum=0.00;QD=28.00;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,20,0:20:60:1|1:77027445_C_T:878,60,0,878,60,879:77027445	6	6	8	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.457	T	0.373	T	0.265	1.329	10.36	6.02	2.865	5.815	17.697	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	1084.5	165	chr14	78297852	.	G	A	1084.5	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-4.121e+00;DP=3392;ExcessHet=20.9642;FS=253.512;InbreedingCoeff=-0.6055;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=-1.140e-01;SOR=12.494	GT:AD:DP:GQ:PL	0/1:106,48:174:71:71,0,1478	5	0	16	0
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.317	10.32	3.66	2.343	1.628	8.987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	935.62	37	chr14	87947880	.	T	G	935.62	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-1.210e+00;DP=599;ExcessHet=6.5132;FS=356.125;InbreedingCoeff=-0.3595;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.35;SOR=9.869	GT:AD:DP:GQ:PL	0/1:23,11:34:59:59,0,377	9	0	10	2
chr14	91277938	91277938	C	T	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon29:c.G5042A:p.R1681H,	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	.	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.781	P	0.009	U	0.999	N	1.995	M	2.39	T	-0.899	T	0.184	T	0.363	2.815	15.38	3.7	0.682	1.609	7.083	0.151	0.0200855166258	8.1e-05	.	9.36e-05	0	0	0	0	0.0002	0	0	1.94e-05	3	154602	rs375999190	0.0001	0.0001	9.773e-05	0.0001	0.0002	9.219e-05	8.648e-05	0.0001	0.0001	3.234e-05	0	0	0	0	0.0002	0.0001	0.0002	0	3.285e-05	3.283e-05	5.138e-05	1.345e-05	5.88e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	0	0	5.88e-05	0	0	0.015	0.52492	D	0.113	0.51421	T	0.905	0.49920	P	0.38	0.43842	B	0.008922	0.30598	U	0.141496	0.999588	0.20930	N	2.425	0.70256	M	0.71	0.51228	T	-3.39	0.66896	D	0.52	0.55019	-0.8992	0.48074	T	0.184	0.53300	T	10	0.27982473	0.45556	T	0.020086	0.42610	T	0.151	0.39764	.	.	0.585017178307	0.58175	0.1990977052967227	0.19826	0.519359975505	0.49760	0.353462696075	0.18431	T	0.149015	0.48783	T	-0.0882469	0.38366	T	-0.364537	0.37527	T	0.640618145465851	0.38063	D	0.89951	0.64815	D	0.048703883	0.08532	0.053532556	0.09036	0.048703883	0.08532	0.053532556	0.09036	-5.176	0.38697	T	.	.	0.103	0.18539	B	.;.	.;.	2.627358	0.34156	19.55	0.99787641977589447	0.87396	0.82171	0.41440	D	AEFGBIJ	0.128911	0.24688	N	0.00666735928331633	0.42159	2.534881	-0.0401906372680236	0.37918	2.226702	0.999985083337513	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.55	3.7	0.41607	1.812000	0.38590	0.388000	0.17857	-0.189000	0.09497	0.889000	0.31176	0.025000	0.21018	0.002000	0.04165	0.1315:0.674:0.1265:0.068	7.083	0.24420	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1014.98	34	chr14	91277938	.	C	T	1014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.891e+00;DP=837;ExcessHet=0.0000;FS=3.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.430;SOR=0.320	GT:AD:DP:GQ:PL	0/1:33,41:74:99:1029,0,1001	20	0	1	0
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*74	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0066	0.0004	0.0003	0.0059	0.0057	0.0039	0.0002	0	0.0066	4.089e-05	0.0008	8.033e-05	0.0005	0.0003	0.0029	0.0030	0.0029	0.0030	0.0095	0.0027	0.0026	0.0087	0.0084	0.0095	0	0.0009	0	0.0069	0	0	0.0004	0.0010	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	36259.03	42	chr14	92071010	.	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	36259.03	.	AC=18,2,2,6,3,2;AF=0.429,0.048,0.048,0.143,0.071,0.048;AN=42;BaseQRankSum=0.860;DP=1771;ExcessHet=0.9430;FS=3.265;InbreedingCoeff=0.0101;MLEAC=18,2,2,6,3,2;MLEAF=0.429,0.048,0.048,0.143,0.071,0.048;MQ=59.43;MQRankSum=0.00;QD=25.62;ReadPosRankSum=1.57;SOR=1.013	GT:AD:DP:GQ:PGT:PID:PL:PS	4/6:0,0,0,0,17,0,6:23:99:.:.:3024,2137,1966,2137,1966,1966,2137,1966,1966,1966,410,404,404,404,186,2137,1966,1966,1966,404,1966,837,831,831,831,0,831,643	1	5	3	0
chr14	92941732	92941732	G	T	exonic	ITPK1	.	nonsynonymous SNV	ITPK1:NM_001363707:exon9:c.C717A:p.S239R	.	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.03	B	0.03	B	0.510	N	1.000	D	1.59	L	.	.	-0.734	T	0.210	T	0.212	2.486	14.27	3.58	2.221	2.333	13.324	0.071	0.0290372094218	.	0.000399361	0.0012	0	0.0007	0	0	0.0005	0.0076	0.0031	0.0003493	54	154602	rs567443586	0.0003	0.0003	0.0002	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	0	0.0002	0	0	0	0.0022	9.972e-05	0.0003	0.0025	0.0002	0.0002	8.99e-05	0.0002	0.0027	0.0001	9.229e-05	0.0016	0.0013	0	0	0	0	0	0	0.0034	0.0001	0	0.0027	0.019	0.50676	D	0.041	0.51112	D	0.03	0.20002	B	0.03	0.21741	B	0.509576	0.11859	N	0.807672	0.976324	0.81001	D	1.65	0.42232	L	.	.	.	-0.74	0.25118	N	0.156	0.20925	-0.7337	0.58776	T	0.210	0.56973	T	9	0.01060459	0.00235	T	0.029037	0.51617	D	0.071	0.20720	0.415	0.45380	0.128874641272	0.12493	0.3961380180446271	0.39528	0.558886656677	0.52455	0.692266702652	0.66032	T	0.110339	0.42496	T	-0.436196	0.01362	T	-0.404889	0.32817	T	0.0412309674587538	0.03914	T	.	.	.	0.0807201	0.18512	0.09399475	0.22228	0.0807201	0.18511	0.09399475	0.22227	-3.783	0.20551	T	.	.	0.217	0.44732	B	.;.;.	.;.;.	1.792478	0.22787	15.76	0.99428485580061599	0.64130	0.97618	0.75940	D	AEFBI	0.617684	0.60377	D	-0.127428297000857	0.36200	2.08932	-0.0229456387727947	0.38680	2.282391	0.999999550149433	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.554053	0.18673	1	0.655142	0.61905	0	.	.	4.49	3.58	0.40133	2.208000	0.42436	3.535000	0.38974	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.098000	0.18187	0.0817:0.0:0.9183:0.0	13.324	0.59887	906	0.23090	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	930.98	33	chr14	92941732	.	G	T	930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.470e-01;DP=758;ExcessHet=0.0000;FS=0.970;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=-7.200e-02;SOR=0.880	GT:AD:DP:GQ:PL	0/1:29,32:61:99:945,0,804	20	0	1	0
chr14	93621920	93621920	G	A	exonic	UNC79	.	nonsynonymous SNV	UNC79:NM_020818:exon30:c.G4156A:p.E1386K	.	.	433	1078	10	1	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.001	B	0.002	B	0.000	N	0.512	N	0.895	L	2.18	T	-1.038	T	0.024	T	0.276	0.936	8.815	4.16	0.865	5.281	12.273	0.076	0.00711579097533	0.0026	0.00139776	0.0036	0.0009	0.0013	0	0.0015	0.0044	0.0099	0.0058	0.0035122	543	154602	rs78490074	0.0044	0.0044	0.0044	0.0044	0.0069	0.0043	0.0043	0.0065	0.0063	0.0007	0.0022	3.826e-05	2.519e-05	0.0013	0.0040	0.0048	0.0041	0.0069	0.0029	0.0029	0.0029	0.0030	0.0050	0.0027	0.0026	0.0043	0.0041	0.0008	0.0099	0.0027	0	0	0.0013	0	0.0047	0.0028	0.0050	0.359	0.13566	T	0.278	0.21812	T	.	.	.	.	.	.	0.000024	0.55875	N	0.152716	0.512217	0.31638	N	0.805	0.20218	L	2.17	0.19020	T	-0.51	0.15986	N	0.09	0.10056	-1.0383	0.17832	T	0.024	0.10374	T	10	0.00458017	0.00095	T	0.007116	0.18869	T	0.076	0.22200	.	.	0.043077524339	0.03247	0.6821186945841523	0.68150	0.36516677648	0.38118	0.425712704659	0.28623	T	0.063634	0.38073	T	-0.551922	0.00284	T	-0.562127	0.16177	T	0.00654842275296637	0.00073	T	.	.	.	0.05769791	0.11514	0.08991214	0.21054	0.05769791	0.11514	0.08991214	0.21053	-4.091	0.27598	T	.	.	0.065	0.05103	B	.;.;.;.;.	.;.;.;.;.	2.151137	0.27396	17.45	0.97791701591176228	0.36001	0.97590	0.75750	D	AEFBI	0.606884	0.59706	D	-0.564170034903693	0.20042	1.053588	-0.399848885350235	0.25002	1.372392	0.963580061344208	0.28700	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.98	4.16	0.48138	2.878000	0.48213	5.259000	0.48116	-0.162000	0.11565	0.999000	0.42656	1.000000	0.68203	0.034000	0.13613	0.1383:0.0:0.8617:0.0	12.273	0.54037	789	0.46346	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1827.98	36	chr14	93621920	.	G	A	1827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.123;DP=849;ExcessHet=0.0000;FS=1.304;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=1.04;SOR=0.845	GT:AD:DP:GQ:PL	0/1:75,72:147:99:1842,0,1878	20	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.011	B	0.017	B	0.252	N	1.000	N	0.05	N	-2.05	D	-0.896	T	0.266	T	0.154	-1.272	0.044	2.69	0.689	0.019	3.621	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	13250.74	134	chr14	94497802	.	C	T	13250.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.980e-01;DP=3035;ExcessHet=54.0936;FS=263.453;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.70;ReadPosRankSum=-4.390e-01;SOR=12.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:113,47:160:99:.:.:392,0,2081	0	0	21	0
chr14	96306827	96306827	A	G	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon30:c.T4393C:p.S1465P,	.	.	437	1058	27	0	0	27	0.0125992	.	.	1278856	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.0	B	0.024	N	1.000	N	-0.535	N	2.86	T	-0.949	T	0.003	T	0.054	0.183	4.984	1.65	-0.163	0.822	5.858	0.022	.	0.0005	0.0253594	0.0132	0.0004	0.0007	0.0484	0.0003	0.0005	0.0132	0.0681	0.0117528	1817	154602	rs143695335	0.0055	0.0055	0.0037	0.0074	0.0655	0.0054	0.0054	0.0641	0.0635	0.0003	0.0003	0.0033	0.0376	9.36e-05	0.0035	0.0003	0.0083	0.0655	0.0042	0.0043	0.0030	0.0056	0.0672	0.0040	0.0039	0.0612	0.0588	0.0003	0	0.0005	0.0032	0.0473	0.0002	0	0.0004	0.0090	0.0672	0.43	0.09543	T	0.308	0.19845	T	0.0	0.02946	B	0.0	0.01387	B	0.024030	0.26335	N	0.417057	1	0.08975	N	0.165	0.08973	N	2.86	0.10482	T	0.35	0.03761	N	0.076	0.05037	-0.9487	0.41194	T	0.003	0.00832	T	10	0.0015945137	0.00018	T	.	.	.	0.022	0.04323	.	.	.	.	0.1381996845717014	0.13743	0.21266184184	0.23769	0.365063548088	0.20120	T	2.6E-4	0.00060	T	-0.724645	0.00026	T	-0.763421	0.02991	T	0.000637627668924945	0.00006	T	0.0932907	0.00693	T	0.038570844	0.05163	0.0540184	0.09212	0.038570844	0.05163	0.0540184	0.09211	-3.801	0.20820	T	.	.	0.047	0.00069	B	.	.	1.440086	0.18595	13.82	0.90881235470006005	0.20130	0.10083	0.15686	N	AEFBI	0.027216	0.02186	N	-1.13594137804069	0.06015	0.2757641	-0.982597901156104	0.10175	0.5108628	0.818942216564629	0.24489	0.732398	0.92422	0	0.724815	0.89359	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.59	1.65	0.23015	0.860000	0.27527	3.035000	0.36058	-0.788000	0.03273	0.931000	0.32310	1.000000	0.68203	0.366000	0.26021	0.4271:0.1278:0.4452:0.0	5.858	0.17978	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1423.98	33	chr14	96306827	.	A	G	1423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=1.48;SOR=0.642	GT:AD:DP:GQ:PL	0/1:74,58:132:99:1438,0,1757	20	0	1	0
chr14	96328709	96328709	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1939G:p.L647V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.997	D	0.991	D	0.000	U	1.000	D	2.075	M	2.88	T	-1.167	T	0.084	T	0.524	4.134	21.3	5.84	2.779	6.934	20.147	0.190	0.0210505278955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.126	0.35205	T	0.997	0.70673	D	0.991	0.79672	D	0.000024	0.55875	U	0.000000	0.99996	0.52935	D	1.84	0.48285	L	2.88	0.10291	T	-1.24	0.31375	N	0.642	0.65416	-1.1675	0.00589	T	0.084	0.32814	T	10	0.61223567	0.67508	D	0.021051	0.43757	T	0.190	0.46781	0.198	0.11110	0.586816528483	0.58355	0.3201478662071291	0.31927	0.652725768522	0.58449	0.597697973251	0.52579	T	0.005137	0.04581	T	-0.0899762	0.38080	T	-0.367021	0.37237	T	0.884093582630157	0.53431	D	0.913309	0.69109	D	0.17750946	0.38721	0.15349935	0.36067	0.17750946	0.38720	0.15349935	0.36066	-4.522	0.31175	T	.	.	0.095	0.14888	B	.	.	5.100309	0.85214	28.5	0.99806771792025484	0.89085	0.98731	0.86131	D	AEFBI	0.733095	0.67964	D	0.75656352154125	0.83333	7.989826	0.766028455875063	0.87348	9.19159	0.999996270545633	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	7.339000	0.78520	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.147	0.98079	966	0.07191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	76.72	34	chr14	96328709	.	G	C	76.72	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-9.610e-01;DP=932;ExcessHet=0.3300;FS=122.093;InbreedingCoeff=-0.1451;MLEAC=3;MLEAF=0.088;MQ=60.00;MQRankSum=0.00;QD=0.56;ReadPosRankSum=0.114;SOR=9.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,9:42:13:0|1:96328709_G_C:13,0,880:96328709	14	0	3	4
chr14	96328715	96328715	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1933G:p.L645V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.802	P	0.184	B	0.000	U	0.999	D	1.79	L	2.78	T	-1.038	T	0.027	T	0.612	3.086	16.30	5.84	2.779	5.501	14.927	0.089	0.0109553308418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	1.71e-05	1.365e-06	0	9.013e-07	0	0	.	.	0	0	0	0	0	0	9.013e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.157	0.31730	T	0.802	0.45105	P	0.184	0.35999	B	0.000461	0.44317	U	0.093440	0.99902	0.45899	D	1.355	0.33814	L	2.78	0.11298	T	-0.8	0.22078	N	0.43	0.46928	-1.0376	0.18048	T	0.027	0.11529	T	10	0.27002215	0.44531	T	0.010955	0.28062	T	0.089	0.25827	0.241	0.17371	0.481321013822	0.47762	0.285937600743724	0.28506	0.652725768522	0.58449	0.546917438507	0.45422	T	0.001307	0.00783	T	-0.0890419	0.38234	T	-0.365679	0.37394	T	0.912488400936127	0.56841	D	0.844016	0.52137	T	0.1511111	0.34369	0.108453274	0.26125	0.1511111	0.34368	0.108453274	0.26125	-4.536	0.31356	T	.	.	0.093	0.14108	B	.	.	3.546023	0.49826	22.8	0.99518916642557653	0.69100	0.97778	0.77065	D	AEFBI	0.585571	0.58394	D	0.354162227763407	0.58958	4.071638	0.464947464439595	0.65682	4.854823	0.999992539104278	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	5.885000	0.69480	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.857:0.143	14.927	0.70531	966	0.07191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	73.55	37	chr14	96328715	.	G	C	73.55	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.987e+00;DP=871;ExcessHet=0.3300;FS=110.264;InbreedingCoeff=-0.1186;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=0.178;SOR=8.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,9:42:13:0|1:96328709_G_C:13,0,880:96328709	16	0	3	2
chr14	96331530	96331530	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon11:c.C1576G:p.P526A,	.	.	439	1056	27	0	0	27	0.0126227	.	.	1169613	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.11	T	0.244	B	0.078	B	0.000	U	1.000	D	0.975	L	2.9	T	-1.055	T	0.007	T	0.494	3.288	17.04	5.5	2.748	6.858	19.758	0.149	.	0.0005	0.0259585	0.0135	0.0003	0.0007	0.0519	0.0003	0.0004	0.0144	0.0682	0.0119662	1850	154602	rs146022217	0.0056	0.0056	0.0038	0.0074	0.0657	0.0055	0.0055	0.0642	0.0636	0.0003	0.0003	0.0033	0.0398	9.36e-05	0.0035	0.0003	0.0083	0.0657	0.0044	0.0044	0.0031	0.0058	0.0672	0.0041	0.0040	0.0612	0.0588	0.0003	0	0.0005	0.0032	0.0523	0.0002	0	0.0004	0.0090	0.0672	0.034	0.44029	D	0.415	0.14326	T	0.244	0.31025	B	0.078	0.28627	B	0.000002	0.62929	U	0.000000	1	0.81001	D	2.175	0.60977	M	2.9	0.10101	T	-2.42	0.53096	N	0.197	0.21710	-1.0549	0.13066	T	0.007	0.02598	T	10	0.0024820566	0.00037	T	.	.	.	0.149	0.39377	.	.	.	.	0.3774704168572004	0.37662	0.17007679262	0.19178	0.470115423203	0.34696	T	0.003822	0.03232	T	-0.440318	0.01288	T	-0.355005	0.38630	T	0.0708420105264532	0.08768	T	0.858314	0.54891	D	0.08489154	0.19669	0.14316234	0.34033	0.08489154	0.19669	0.14316234	0.34032	-4.295	0.28107	T	.	.	0.073	0.04599	B	.	.	3.287399	0.45070	22.1	0.97816794454440448	0.36168	0.98779	0.86744	D	AEFBI	0.534159	0.55331	D	0.190294975503276	0.50732	3.260575	0.364883056087187	0.59410	4.118486	0.999999999993741	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.731467	0.93227	0	0.727631	0.95156	0	.	.	5.5	5.5	0.81386	6.948000	0.75768	8.640000	0.77890	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	19.758	0.96297	967	0.07127	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1344.98	40	chr14	96331530	.	G	C	1344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.305;DP=968;ExcessHet=0.0000;FS=3.457;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-3.240e+00;SOR=0.415	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1359,0,1441	20	0	1	0
chr14	102452520	102452520	A	G	exonic	TECPR2	.	nonsynonymous SNV	TECPR2:NM_001172631:exon16:c.A3533G:p.Q1178R	Spastic paraplegia 49, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.005	B	0.006	B	0.010	N	0.765	N	0	N	2.52	T	-0.976	T	0.014	T	0.123	1.256	10.09	3.74	0.540	2.714	6.278	0.056	0.0105312036959	.	.	7.858e-05	0	0	0	0	0	0	0.0006	5.17e-05	8	154602	rs761143078	2.945e-05	2.941e-05	1.226e-05	4.68e-05	0.0005	2.219e-05	1.972e-05	0.0004	0.0003	0	0	0	0	0	0	8.995e-07	0	0.0005	6.568e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.564	0.08408	T	0.857	0.04129	T	0.002	0.09854	B	0.004	0.10090	B	0.009794	0.30200	N	0.356348	0.76545	0.29494	N	0.665	0.16292	N	2.52	0.79854	T	-0.74	0.22078	N	0.203	0.22486	-0.9764	0.35816	T	0.014	0.05753	T	10	0.0494605	0.04537	T	0.010531	0.27174	T	0.056	0.15993	0.487	0.57098	0.187035705434	0.18338	0.25857836984167687	0.25771	0.326945427741	0.34833	0.554125010967	0.46438	T	0.00914	0.08339	T	-0.324101	0.06568	T	-0.387169	0.34883	T	0.070975060336334	0.08786	T	0.625137	0.24143	T	0.028333208	0.02154	0.03997181	0.04213	0.028333208	0.02154	0.03997181	0.04213	-6.023	0.46472	T	.	.	0.069	0.10497	B	.;.	.;.	1.588128	0.20318	14.69	0.86876283729780446	0.16833	0.83316	0.42443	D	AEFDGBI	0.117495	0.23015	N	-0.479525966216945	0.22752	1.217126	-0.246269241647798	0.29900	1.678967	0.92999458379777	0.26990	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.07	3.74	0.42108	2.731000	0.47015	2.790000	0.34790	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.7212:0.1437:0.1352:0.0	6.278	0.20202	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	996.98	45	chr14	102452520	.	A	G	996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.402e+00;DP=886;ExcessHet=0.0000;FS=1.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=9.000e-03;SOR=0.506	GT:AD:DP:GQ:PL	0/1:43,40:83:99:1011,0,1184	20	0	1	0
chr14	102929467	102929467	G	A	exonic	AMN	.	nonsynonymous SNV	AMN:NM_030943:exon7:c.G691A:p.G231S,	Megaloblastic anemia-1, Norwegian type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.985	D	0.013	U	0.990	D	2.045	M	-2.48	D	0.616	D	0.762	D	0.252	3.560	18.15	3.29	1.396	2.253	11.328	0.508	0.984963048864	.	.	0.0007	0	0	0	.	0	0	0.0009	5.82e-05	9	154602	rs746199829	2.973e-05	3.01e-05	8.585e-06	5.146e-05	0.0005	2.212e-05	1.991e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.135	0.34124	T	1.0	0.90584	D	0.985	0.76457	D	0.012936	0.29007	U	0.230972	0.989754	0.41016	D	2.215	0.62545	M	-2.48	0.89071	D	-2.91	0.60982	D	0.217	0.24260	0.616	0.92108	D	0.762	0.91883	D	10	0.4228022	0.56976	T	0.984963	0.99929	D	0.508	0.78848	0.471	0.54537	0.757159701822	0.75495	0.804309703073637	0.80384	1.28303737647	0.82587	0.751734137535	0.74702	T	0.577724	0.86123	D	-0.213818	0.18846	T	-0.19774	0.54861	T	0.518886804580688	0.33325	D	0.644935	0.25655	T	0.39655176	0.60493	0.35055825	0.60663	0.39655176	0.60493	0.35055825	0.60663	-4.21	0.26896	T	.	.	0.129	0.27702	B	.	.	4.484191	0.69992	25.5	0.9973237894492214	0.82833	0.51747	0.28968	D	AEFDBCI	0.144416	0.26737	N	0.286562327530246	0.55466	3.710727	0.157561531955383	0.47544	2.983052	0.999999970970743	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.29	3.29	0.36801	3.823000	0.55415	5.686000	0.49316	0.519000	0.23678	0.995000	0.38783	1.000000	0.68203	0.484000	0.28656	0.0:0.0:1.0:0.0	11.328	0.48697	499	0.76092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	522.98	40	chr14	102929467	.	G	A	522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.622;DP=797;ExcessHet=0.0000;FS=2.416;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=1.91;SOR=1.179	GT:AD:DP:GQ:PL	0/1:28,23:51:99:537,0,630	20	0	1	0
chr14	103986308	103986308	T	C	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon8:c.T1103C:p.M368T,	.	.	437	1084	1	0	0	1	0.000461042	.	.	3204898	TDRD9-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.037	B	0.029	B	0.001	D	1.000	N	2.08	M	4.12	T	-0.963	T	0.013	T	0.313	0.710	7.783	5.71	2.176	2.023	13.510	0.094	.	.	0.00499201	0.0024	0	0	0	0	0	0.0023	0.0174	0.0019534	302	154602	rs540412831	0.0009	0.0009	0.0006	0.0012	0.0141	0.0008	0.0008	0.0135	0.0132	2.997e-05	0	0	0	0	0.0009	8.117e-06	0.0011	0.0141	0.0006	0.0006	0.0003	0.0009	0.0174	0.0005	0.0004	0.0144	0.0133	0	0	0	0	0.0002	0	0	1.47e-05	0.0009	0.0174	0.277	0.15665	T	0.611	0.18959	T	0.003	0.11197	B	0.005	0.11217	B	0.000992	0.40743	D	0.210807	1	0.08975	N	2.35	0.67516	M	4.12	0.02891	T	-1.25	0.31576	N	0.334	0.43223	-0.9627	0.38664	T	0.013	0.05177	T	10	0.0028936863	0.00046	T	.	.	.	0.094	0.27141	0.405	0.43738	0.148003135375	0.14442	0.4723827549962484	0.47157	0.243209586252	0.26821	0.329681873322	0.14886	T	0.031269	0.21965	T	-0.539299	0.00338	T	-0.534469	0.18844	T	0.0456625045405231	0.04722	T	0.524548	0.18126	T	0.16634019	0.36962	0.1970885	0.43472	0.16793633	0.37220	0.16654012	0.38467	-8.165	0.62189	D	.	.	0.102	0.18037	B	.;.	.;.	2.036425	0.25887	16.92	0.91266673344229321	0.20525	0.64756	0.32511	D	AEFBI	0.125999	0.24275	N	-0.159749344301976	0.34822	1.992503	-0.0182642061534148	0.38890	2.297809	0.0129128931596728	0.12392	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.71	5.71	0.89031	2.161000	0.41985	2.696000	0.34125	0.665000	0.62972	0.618000	0.27897	0.999000	0.35428	0.976000	0.56436	0.0:0.0:0.0:1.0	13.510	0.60964	515	0.74782	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1677.98	38	chr14	103986308	.	T	C	1677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.490e-01;DP=889;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.13;ReadPosRankSum=-1.430e-01;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,45:104:99:0|1:103986303_G_A:1692,0,2334:103986303	20	0	1	0
chr14	104939561	104939561	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T15590C:p.V5197A	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.02	B	0.01	B	0.208	N	1.000	N	0.345	N	4.12	T	-1.004	T	0.007	T	0.026	1.960	12.51	-10.1	-3.596	-0.455	8.482	0.031	0.00329126013499	.	.	0.0001	0	0	0	0	1.504e-05	0.0011	0.0010	0.0001164	18	154602	rs752268831	7.937e-05	7.935e-05	3.131e-05	0.0001	0.0012	6.735e-05	6.268e-05	0.0010	0.0009	0	0	0	2.519e-05	0	0.0005	6.296e-06	4.97e-05	0.0012	4.596e-05	4.593e-05	3.855e-05	5.37e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0010	0.257	0.31834	T	0.298	0.20486	T	0.02	0.18235	B	0.01	0.14941	B	0.207868	0.03365	N	2.072700	1	0.08975	N	0.895	0.22405	L	4.02	0.03178	T	-1.37	0.33998	N	0.03	0.13484	-1.0041	0.28725	T	0.007	0.02321	T	10	0.011441469	0.00250	T	0.003291	0.07298	T	0.031	0.07369	0.233	0.16155	0.0138822411134	0.00435	0.012910041846593265	0.01249	.	.	0.304935336113	0.11141	T	0.02514	0.18856	T	-0.695674	0.00039	T	-0.828412	0.01290	T	0.0715735331177711	0.08870	T	0.217178	0.02739	T	0.02813883	0.02107	0.02919545	0.01231	0.02813883	0.02107	0.02919545	0.01230	-3.729	0.19747	T	.	.	0.120	0.49314	B	.;.	.;.	-1.123851	0.00612	0.016	0.7423507095453874	0.10620	0.01519	0.05013	N	AEFDBI	0.035858	0.04683	N	-1.77524929535592	0.00608	0.02623002	-1.89683582444905	0.00497	0.02200889	0.999999999986384	0.74766	0.634777	0.41761	0	0.563428	0.19063	0	0.39291	0.06387	1	0.645665	0.59343	0	.	.	5.07	-10.1	0.00330	-0.171000	0.09872	-2.106000	0.04204	-0.576000	0.04747	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.16:0.1901:0.5561:0.0938	8.482	0.32210	982	0.03397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2347.98	120	chr14	104939561	.	A	G	2347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.200e-02;DP=2775;ExcessHet=0.0000;FS=0.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-1.232e+00;SOR=0.642	GT:AD:DP:GQ:PL	0/1:93,88:181:99:2362,0,2604	20	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,173,0:173:99:1|1:104946204_C_T:7717,521,0,7717,521,7717:104946204	1	7	12	0
chr14	104946366	104946366	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8785C:p.E2929Q	.	.	433	1083	6	0	0	6	0.00276243	.	.	390167	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.001	B	.	.	1.000	N	-0.025	N	6.02	T	-0.964	T	0.000	T	0.072	-1.204	0.070	-0.247	-0.043	-3.294	5.097	0.022	.	.	0.0161741	0.0062	0.0009	0.0011	0.0528	0	0.0003	0.0022	0.0152	0.0057891	895	154602	rs192951700	0.0023	0.0024	0.0020	0.0026	0.0311	0.0022	0.0022	0.0297	0.0291	0.0004	0.0009	0.0020	0.0311	0	0.0026	8.733e-05	0.0083	0.0161	0.0035	0.0040	0.0028	0.0041	0.0619	0.0032	0.0031	0.0561	0.0539	0.0007	0	0.0015	0.0029	0.0619	0	0	0.0002	0.0059	0.0281	0.671	0.04548	T	0.534	0.09965	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.835	0.01514	N	6.02	0.00599	T	0.41	0.03407	N	0.132	0.12770	-0.9643	0.38350	T	0.000	0.00152	T	9	0.0035173297	0.00063	T	.	.	.	0.022	0.04323	.	.	0.0138822411134	0.00435	0.008642811397447946	0.00828	.	.	0.200078368187	0.00459	T	0.020	0.16069	T	-0.780172	0.00011	T	-0.847878	0.00987	T	0.000893557040401497	0.00008	T	0.316168	0.06277	T	0.023484753	0.01092	0.024533859	0.00474	0.023484753	0.01092	0.024533859	0.00474	-0.986	0.00984	T	.	.	0.062	0.01328	B	.	.	-1.712554	0.00190	0.003	0.1077389432472611	0.00145	0.00615	0.02724	N	AEFBI	.	.	.	-1.45976311396001	0.02141	0.09422169	-1.46092582869545	0.02673	0.1233625	1.05395675737298E-4	0.05123	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.24	-0.247	0.12376	-4.227000	0.00308	.	.	-1.992000	0.00454	0.000000	0.06391	.	.	0.000000	0.00833	0.0791:0.3162:0.4257:0.179	5.097	0.14072	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	0.02381	5133.98	200	chr14	104946366	.	C	G	5133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e-02;DP=5016;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.43;MQRankSum=1.47;QD=12.77;ReadPosRankSum=0.692;SOR=0.681	GT:AD:DP:GQ:PL	0/1:209,193:402:99:5148,0,5770	20	0	1	0
chr14	104949437	104949437	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5714A:p.R1905K	.	.	443	1064	15	0	0	15	0.00699953	.	.	2807483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.019	B	0.016	B	.	.	1.000	N	-2.785	N	5.56	T	-0.944	T	0.001	T	0.074	-0.743	0.838	2.57	0.345	0.533	5.046	0.072	.	.	0.00519169	0.0027	0.0039	0.0013	0.0013	0.0121	0.0015	0.0068	0.0049	0.0023868	369	154602	rs201724743	0.0015	0.0018	0.0014	0.0016	0.0045	0.0014	0.0014	0.0041	0.0040	0.0039	0.0011	0.0024	0.0007	0.0136	0.0019	0.0006	0.0022	0.0045	0.0033	0.0048	0.0029	0.0037	0.0080	0.0030	0.0029	0.0059	0.0052	0.0049	0	0.0012	0.0024	0.0019	0.0141	0	0.0011	0.0010	0.0080	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	-2.425	0.00069	N	5.56	0.00864	T	0.9	0.01618	N	0.055	0.02658	-0.9435	0.42057	T	0.001	0.00222	T	9	0.0056378245	0.00125	T	.	.	.	0.072	0.21020	.	.	0.0138822411134	0.00435	0.013107380770452471	0.01268	.	.	0.247352719307	0.03494	T	0.016235	0.13458	T	-0.692671	0.00040	T	-0.766935	0.02870	T	0.00296917531338819	0.00031	T	0.356864	0.08118	T	0.022871908	0.00981	0.038770977	0.03821	0.022871908	0.00981	0.038770977	0.03820	2.446	0.00035	T	.	.	0.056	0.00505	B	.	.	-0.176059	0.03215	0.535	0.41923522000302094	0.03056	0.00269	0.01464	N	AEFBI	.	.	.	-1.69253864397875	0.00869	0.03758364	-1.54671633278708	0.01998	0.0913044	2.19621052287939E-4	0.05997	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.72	2.57	0.29928	0.265000	0.18282	-4.016000	0.02392	-0.164000	0.11507	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.1777:0.1542:0.6681	5.046	0.13823	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	647.33	323	chr14	104949437	.	C	T	647.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.38;DP=6004;ExcessHet=0.0000;FS=23.024;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.33;MQRankSum=-1.188e+01;QD=1.30;ReadPosRankSum=-7.430e+00;SOR=3.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:450,48:498:99:0|1:104949437_C_T:661,0,18751:104949437	19	0	1	1
chr14	104949837	104949837	A	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T5314A:p.C1772S	.	.	437	1082	3	0	0	3	0.0013844	.	.	2807502	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.77	T	0.0	B	0.0	B	.	.	1.000	N	-2.42	N	5.83	T	-0.947	T	0.000	T	0.032	-0.269	2.711	-6.71	-1.675	.	2.866	0.008	.	0.0073	0.013778	0.0081	0.0054	0.0035	0.0155	0.0076	0.0085	0.0125	0.0075	0.0078524	1214	154602	rs181708085	0.0089	0.0090	0.0088	0.0090	0.0094	0.0088	0.0087	0.0089	0.0089	0.0039	0.0045	0.0105	0.0094	0.0101	0.0024	0.0091	0.0096	0.0094	0.0095	0.0099	0.0095	0.0095	0.0185	0.0091	0.0089	0.0152	0.0140	0.0057	0.0023	0.0091	0.0139	0.0175	0.0082	0	0.0108	0.0098	0.0185	0.887	0.02501	T	0.981	0.02417	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.095	0.00157	N	5.83	0.00652	T	2.46	0.00245	N	0.019	0.00279	-0.9469	0.41498	T	0.000	0.00114	T	9	0.005264044	0.00115	T	.	.	.	0.008	0.00669	0.361	0.36548	0.0138822411134	0.00435	0.00398155033920399	0.00373	.	.	0.211249038577	0.00865	T	0.016175	0.13421	T	-0.758433	0.00015	T	-0.850536	0.00953	T	0.00275804864075437	0.00029	T	0.292471	0.05369	T	0.032542963	0.03299	0.06527708	0.13209	0.032542963	0.03299	0.06527708	0.13208	3.797	0.00010	T	.	.	0.053	0.00269	B	.	.	-1.047148	0.00706	0.021	0.36982589273997241	0.02410	0.00227	0.01275	N	AEFBI	.	.	.	-1.95574968815982	0.00263	0.0112743	-1.92334880181459	0.00440	0.01946236	0.0155192677738775	0.12722	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.44	-6.71	0.01597	-0.622000	0.05649	-7.277000	0.01191	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1198:0.3233:0.3625:0.1945	2.866	0.05257	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	0.025	9032.33	315	chr14	104949837	.	A	T	9032.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.180e-01;DP=6115;ExcessHet=0.0000;FS=3.475;InbreedingCoeff=0.3000;MLEAC=1;MLEAF=0.025;MQ=59.39;MQRankSum=-9.157e+00;QD=12.53;ReadPosRankSum=2.06;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:467,254:721:99:0|1:104949837_A_T:9046,0,18434:104949837	19	0	1	1
chr14	104953797	104953797	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1354A:p.D452N	.	.	411	1040	68	3	0	74	0.0343547	.	.	2807606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.49	T	0.021	B	0.032	B	.	.	1.000	N	0	N	4.03	T	-0.910	T	0.003	T	0.056	2.719	15.05	-3.51	-1.054	0.094	3.143	0.019	.	0.0069	0.00798722	0.0082	0.0015	0.0071	0	0.0005	0.0101	0.0111	0.0130	0.0078718	1217	154602	rs45448397	0.0073	0.0073	0.0069	0.0077	0.0406	0.0072	0.0071	0.0363	0.0347	0.0022	0.0066	0.0321	7.557e-05	0.0007	0.0406	0.0066	0.0105	0.0137	0.0067	0.0067	0.0067	0.0066	0.0110	0.0063	0.0062	0.0097	0.0092	0.0018	0	0.0110	0.0343	0.0006	0.0006	0.0306	0.0083	0.0114	0.0104	0.842	0.02796	T	0.408	0.14633	T	0.021	0.18474	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.03	0.03149	T	-0.08	0.08187	N	0.1	0.08227	-0.9097	0.46891	T	0.003	0.00832	T	9	0.0041176975	0.00081	T	.	.	.	0.019	0.03383	.	.	0.0297737177859	0.01360	0.0316760095331914	0.03116	.	.	0.185123771429	0.00150	T	0.022655	0.17431	T	-0.727118	0.00025	T	-0.8062	0.01752	T	0.00461407943591834	0.00049	T	0.309269	0.05988	T	0.016435066	0.00197	0.024356974	0.00454	0.016435066	0.00197	0.024356974	0.00454	-4.588	0.32020	T	.	.	0.109	0.20934	B	.	.	-0.342790	0.02437	0.277	0.97984752298087319	0.37356	0.08243	0.14197	N	AEFDBI	0.071796	0.14307	N	-1.45363581998287	0.02188	0.09635179	-1.48412917277304	0.02474	0.1138519	0.07631154992444	0.15723	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.96	-3.51	0.04397	-1.192000	0.03161	-2.796000	0.03352	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.105:0.2143:0.4064:0.2743	3.143	0.06076	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4402.11	72	chr14	104953797	.	C	T	4402.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.31;DP=2099;ExcessHet=0.1072;FS=5.847;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-5.180e-01;SOR=0.884	GT:AD:DP:GQ:PL	0/1:129,80:209:99:2189,0,3522	19	0	2	0
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	649.96	67	chr15	20534647	.	C	*,T	649.96	.	AC=14,2;AF=0.333,0.048;AN=42;BaseQRankSum=0.996;DP=1957;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=14,2;MLEAF=0.333,0.048;MQ=52.26;MQRankSum=0.013;QD=0.62;ReadPosRankSum=0.174;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:47,0,14:61:99:.:.:266,401,1541,0,1139,1097	5	0	14	0
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1634.86	67	chr15	20534699	.	CCTCCTG	*,C	1634.86	.	AC=10,4;AF=0.263,0.105;AN=38;BaseQRankSum=-1.160e+00;DP=1326;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5547;MLEAC=11,4;MLEAF=0.289,0.105;MQ=42.46;MQRankSum=-1.014e+00;QD=2.12;ReadPosRankSum=0.176;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:14,0,16:30:99:.:.:630,672,1248,0,576,527	5	0	10	2
chr15	20845872	20845872	T	C	exonic	POTEB;POTEB2	.	nonsynonymous SNV	POTEB2:NM_001277303:exon9:c.A1259G:p.N420S	.	.	436	962	122	2	0	126	0.0614634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1023	0.1962	0.1486	0.1165	0.0769	0.0872	0.0804	0.0657	0.0592295	9157	154602	rs79335648	8.749e-05	6.598e-05	5.516e-05	0.0001	0.0007	4.714e-05	3.515e-05	0.0001	4.787e-05	0	0.0007	0	0.0004	0	0	8.064e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.305	0.14256	T	0.839	0.03621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.32	0.16640	T	-0.63	0.18459	N	0.008	0.00068	.	.	.	.	.	.	.	0.0018360615	0.00025	T	.	.	.	.	.	.	.	.	.	0.006055757321101937	0.00574	1.56174073802	0.88049	0.741252064705	0.73158	T	0.003477	0.02879	T	-0.366787	0.03760	T	-0.76464	0.02949	T	.	.	.	0.39826	0.10085	T	0.023043897	0.01012	0.036473703	0.03101	0.023043897	0.01012	0.036473703	0.03101	-3.291	0.13621	T	.	.	0.079	0.07412	B	.	.	-0.426343	0.02115	0.200	0.31482124279507218	0.01776	0.00335	0.01744	N	AEFI	0.024797	0.01593	N	.	.	.	.	.	.	1.07113283285327E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-2.79	0.05494	-0.085000	0.11215	-10.088000	0.00741	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2288:0.3611:0.0:0.4101	2.473	0.04291	1000	0.00083	.	.	.	.	.	.	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	0.04762	1949.11	33	chr15	20845872	.	T	C	1949.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.838;DP=1793;ExcessHet=0.1072;FS=0.702;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=38.76;MQRankSum=-4.150e-01;QD=1.73;ReadPosRankSum=1.15;SOR=0.596	GT:AD:DP:GQ:PL	0/1:471,111:582:99:1238,0,11344	19	0	2	0
chr15	22081006	22081006	C	T	exonic	OR4M2	.	stopgain	OR4M2:NM_001004719:exon1:c.C382T:p.R128X,	.	.	672	794	37	19	0	75	0.0450992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.605	25.1	2.5	1.422	1.584	6.679	.	.	0.0185	0.0505192	0.0325	0.0296	0.0345	0.1538	0.0218	0.0204	0.0453	0.0219	0.0290876	4497	154602	rs78256866	0	3.064e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000185	0.48115	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.009	0.00081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0937667	0.63611	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.792551	0.95741	35	0.99832391884684535	0.91370	0.47264	0.27944	N	AEFDGBCI	0.235043	0.35770	N	0.608319707800418	0.73699	6.009183	0.352040610194453	0.58631	4.034739	0.523553565198187	0.21116	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	0.566000	0.23296	-0.743000	0.07611	0.271000	0.18527	0.000000	0.06391	0.000000	0.08366	0.632000	0.32210	0.2821:0.7179:0.0:0.0	6.679	0.22300	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.025	1425.71	34	chr15	22081006	.	C	T	1425.71	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.049e+00;DP=1192;ExcessHet=0.0000;FS=4.201;InbreedingCoeff=-0.0422;MLEAC=1;MLEAF=0.025;MQ=46.35;MQRankSum=-1.004e+01;QD=2.56;ReadPosRankSum=6.48;SOR=0.518	GT:AD:DP:GQ:PL	0/1:439,117:556:99:1439,0,11247	19	0	1	1
chr15	22081181	22081181	G	A	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.G557A:p.R186Q,	.	.	560	917	36	9	0	54	0.0286017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.027	B	0.025	B	0.000	D	0.982	N	0.5	N	8.76	T	-0.965	T	0.000	T	0.171	1.919	12.37	2.5	1.422	0.388	5.349	0.070	.	0.0133	.	0.0323	0.0299	0.0344	0.1519	0.0218	0.0203	0.0453	0.0218	0.0104119	271	26028	rs112370472	1.583e-05	2.596e-05	3.436e-05	0	2.738e-05	2.63e-06	9.9e-07	4.54e-06	1.7e-06	0	0	0	0	0	0	2.738e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.48594	D	0.027	0.19556	B	0.025	0.20508	B	0.000336	0.45700	D	0.000000	0.982304	0.24974	N	0.43	0.12624	N	.	.	.	.	.	.	0.066	0.03841	-0.9654	0.38132	T	0.000	0.00011	T	10	0.0017219782	0.00022	T	.	.	.	.	.	.	.	.	.	0.23905920919614257	0.23819	.	.	.	.	.	0.006572	0.05999	T	-0.615257	0.00118	T	-0.63492	0.10044	T	0.0208086093620371	0.00781	T	0.630337	0.24523	T	0.07212918	0.16020	0.11710262	0.28269	0.07212918	0.16020	0.11710262	0.28268	-4.671	0.33051	T	.	.	0.086	0.10931	B	.	.	3.124930	0.42199	21.5	0.99834674602958939	0.91628	0.06708	0.12729	N	AEFGBCI	.	.	.	-0.580585229479446	0.19534	1.023148	-0.517038118105351	0.21690	1.17457	0.978852491937488	0.29965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	0.173000	0.16538	0.158000	0.15372	0.303000	0.18983	0.000000	0.06391	0.000000	0.08366	0.977000	0.56843	0.1658:0.0:0.8342:0.0	5.349	0.15328	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	142.15	29	chr15	22081181	.	G	A	142.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0322;MLEAC=1;MLEAF=0.024;MQ=30.99;MQRankSum=-2.145e+00;QD=1.48;ReadPosRankSum=0.223;SOR=0.668	GT:AD:DP:GQ:PL	0/1:82,14:96:99:156,0,2521	20	0	1	0
chr15	22081228	22081228	A	T	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.A604T:p.S202C,	.	.	521	957	35	9	0	53	0.0269446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.981	D	0.000	D	0.587	D	0.845	L	8.71	T	-0.364	T	0.000	T	0.239	2.501	14.32	2.5	1.167	0.693	8.582	0.117	.	0.0173	.	0.0323	0.0301	0.0344	0.1521	0.0218	0.0204	0.0453	0.0219	0.0273541	4229	154602	rs79101657	0	4.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	0.999	0.77913	D	0.981	0.75168	D	0.000013	0.62929	D	0.000000	0.586907	0.32422	D	0.905	0.23240	L	.	.	.	.	.	.	0.076	0.05037	-0.3640	0.73144	T	0.000	0.00011	T	10	0.0023354292	0.00034	T	.	.	.	.	.	.	.	.	.	0.30315144890699713	0.30228	.	.	.	.	.	0.008564	0.07859	T	-0.564254	0.00239	T	-0.561659	0.16222	T	0.0384421845010854	0.03411	T	0.861714	0.55578	D	0.20311423	0.42378	0.24912716	0.50477	0.20311423	0.42378	0.24912716	0.50476	-4.232	0.27212	T	.	.	0.121	0.25067	B	.	.	3.854838	0.55867	23.7	0.98295364329275925	0.39992	0.26930	0.23134	N	AEFGBCI	.	.	.	-0.00935321865655644	0.41431	2.478048	-0.133010117939739	0.34069	1.955644	0.986907717140307	0.31148	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	0.364000	0.20053	3.314000	0.37488	0.334000	0.19664	0.000000	0.06391	0.013000	0.20296	0.777000	0.36790	1.0:0.0:0.0:0.0	8.582	0.32798	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	172.15	35	chr15	22081228	.	A	T	172.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.084e+00;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0322;MLEAC=1;MLEAF=0.024;MQ=29.56;MQRankSum=-2.068e+00;QD=1.64;ReadPosRankSum=-1.222e+00;SOR=0.778	GT:AD:DP:GQ:PL	0/1:89,16:105:99:186,0,2662	20	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	1/1:0,192:192:99:6241,576,0	1	16	3	1
chr15	22495646	22495646	T	A	exonic	HERC2	.	unknown	UNKNOWN,	Mental retardation, autosomal recessive 38, Autosomal recessive	.	573	931	18	0	0	18	0.00957447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs780482888	0.0028	0.0050	0.0025	0.0029	0.0077	0.0026	0.0026	0.0071	0.0069	0.0013	0.0011	0.0010	0	0.0005	0.0070	0.0027	0.0032	0.0077	0.0038	0.0061	0.0040	0.0035	0.0144	0.0035	0.0034	0.0113	0.0102	0.0027	0	0.0038	0.0006	0.0005	0.0004	0	0.0047	0.0038	0.0144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	111.98	9	chr15	22495646	.	T	A	111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.096e+00;DP=406;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0249;MLEAC=1;MLEAF=0.024;MQ=26.70;MQRankSum=-1.343e+00;QD=6.22;ReadPosRankSum=-5.310e-01;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,4:18:99:0|1:22495646_T_A:126,0,576:22495646	20	0	1	0
chr15	22495649	22495649	A	G	exonic	HERC2	.	unknown	UNKNOWN,	Mental retardation, autosomal recessive 38, Autosomal recessive	.	570	934	18	0	0	18	0.00954401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756601246	0.0027	0.0050	0.0025	0.0028	0.0084	0.0026	0.0025	0.0069	0.0066	0.0012	0.0011	0.0010	0	0.0005	0.0084	0.0026	0.0031	0.0074	0.0038	0.0061	0.0040	0.0036	0.0143	0.0035	0.0034	0.0111	0.0100	0.0027	0	0.0038	0.0006	0.0005	0.0003	0	0.0048	0.0038	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	111.99	10	chr15	22495649	.	A	G	111.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.681e+00;DP=401;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=26.70;MQRankSum=-1.343e+00;QD=6.22;ReadPosRankSum=-6.380e-01;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,4:18:99:0|1:22495646_T_A:126,0,576:22495646	20	0	1	0
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5455	544.05	2	chr15	22768275	.	C	G,*	544.05	.	AC=8,4;AF=0.364,0.182;AN=22;BaseQRankSum=1.14;DP=74;ExcessHet=0.1935;FS=1.619;InbreedingCoeff=0.2348;MLEAC=12,6;MLEAF=0.545,0.273;MQ=53.08;MQRankSum=-9.670e-01;QD=15.11;ReadPosRankSum=-9.900e-02;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,7,0:11:51:.:.:158,0,51,170,72,242	3	3	2	10
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	47381.92	167	chr15	23440492	.	C	*,T	47381.92	.	AC=19,19;AF=0.452,0.452;AN=42;BaseQRankSum=1.77;DP=3542;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=19,19;MLEAF=0.452,0.452;MQ=58.25;MQRankSum=-4.110e-01;QD=13.88;ReadPosRankSum=0.477;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,94,94:188:99:.:.:6804,3071,3699,3896,0,3611	0	0	2	0
chr15	28702114	28702114	C	G	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon19:c.G1739C:p.S580T,	.	.	344	1171	7	0	0	7	0.00297999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00539137	0.0087	0.0144	0.0154	0	0.0193	0.0090	0.0161	0.0027	0.001216	188	154602	rs201665783	0.0059	0.0080	0.0059	0.0058	0.0104	0.0058	0.0057	0.0095	0.0092	0.0104	0.0030	0.0079	0.0006	0.0118	0.0046	0.0060	0.0065	0.0028	0.0083	0.0092	0.0080	0.0086	0.0097	0.0079	0.0078	0.0089	0.0086	0.0097	0.0022	0.0027	0.0070	0.0020	0.0132	0.0035	0.0090	0.0064	0.0032	0.064	0.36509	T	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.83	0.24841	T	-2.12	0.48184	N	0.109	0.09490	.	.	.	.	.	.	.	0.007103145	0.00162	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.15839361213490336	0.15760	0.450197581717	0.44788	.	.	.	0.061497	0.31670	T	-0.65092	0.00072	T	-0.696747	0.06006	T	.	.	.	0.455954	0.13062	T	0.13564715	0.31475	0.15629028	0.36598	0.13564715	0.31475	0.15629028	0.36597	-3.902	0.22333	T	.	.	0.099	0.16626	B	.	.	1.568145	0.20082	14.58	0.77353703573315857	0.11840	0.05526	0.11418	N	AEFI	0.039513	0.05751	N	.	.	.	.	.	.	1.17655116161652E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.798	0.798	0.17803	-0.048000	0.11898	-0.260000	0.10434	-1.020000	0.01735	0.979000	0.35152	0.177000	0.23390	0.010000	0.09038	0.0:1.0:0.0:0.0	4.952	0.13370	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	0.02381	1286.98	33	chr15	28702114	.	C	G	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.577e+00;DP=775;ExcessHet=0.0000;FS=6.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.62;MQRankSum=-2.710e-01;QD=16.71;ReadPosRankSum=0.936;SOR=0.264	GT:AD:DP:GQ:PL	0/1:29,48:77:99:1301,0,681	20	0	1	0
chr15	30089817	30089817	G	A	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon12:c.G992A:p.R331H,	.	.	466	1049	7	0	0	7	0.00332542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	.	.	.	.	.	.	1.000	N	.	.	1.96	T	-0.999	T	0.035	T	0.155	-1.218	0.064	-0.881	-0.324	2.673	3.086	0.065	0.000900771032752	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488768645	0.0001	0.0006	9.951e-05	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0.0002	0.0002	7.818e-05	2.532e-05	0.0004	0.0002	6.575e-05	0.0002	0.0010	0.0005	0.0029	0.0004	0.0005	0.0009	0.0004	0.0004	0.0005	0.0004	0.0008	0	0.0003	0	0.0002	0.0005	0	0.0004	0.0012	0.0009	0.196	0.20683	T	0.607	0.07766	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	1.96	0.22270	T	-0.41	0.14000	N	0.036	0.01068	-0.9994	0.30087	T	0.035	0.15117	T	6	0.079330474	0.12748	T	9.01E-4	0.00844	T	.	.	.	.	0.0611884634855	0.05136	0.08154418905999827	0.08089	1.58871443814	0.88490	.	.	.	0.001544	0.00986	T	-0.310092	0.07740	T	-0.613364	0.11713	T	0.0723647512045235	0.08979	T	.	.	.	0.018165141	0.00338	0.026209326	0.00698	0.018165141	0.00337	0.026209326	0.00698	-5.732	0.43977	T	.	.	0.065	0.01960	B	.	.	1.046405	0.14271	10.85	0.52266347466046803	0.04716	0.06355	0.12354	N	AEFI	0.059543	0.11253	N	-0.810811843792159	0.13033	0.6392938	-0.978440891905038	0.10270	0.5161716	1.86297986819133E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-0.881	0.10070	3.050000	0.49568	-0.274000	0.10324	-0.727000	0.03751	1.000000	0.71638	0.000000	0.08366	0.000000	0.00833	0.3332:0.2282:0.4386:0.0	3.086	0.05900	483	0.77230	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1	174.61	39	chr15	30089817	.	G	A	174.61	.	AC=4;AF=0.100;AN=40;BaseQRankSum=1.10;DP=737;ExcessHet=0.0082;FS=15.051;InbreedingCoeff=0.3664;MLEAC=4;MLEAF=0.100;MQ=36.04;MQRankSum=-9.540e-01;QD=3.01;ReadPosRankSum=-5.390e-01;SOR=2.820	GT:AD:DP:GQ:PL	0/1:31,6:37:40:40,0,953	17	1	2	1
chr15	31229304	31229304	G	-	exonic	LOC283710	.	frameshift deletion	LOC283710:NM_001243538:exon2:c.75delC:p.R26Gfs*101,	.	.	454	9	11	367	681	1426	0.976409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	53256.77	60	chr15	31229302	.	CGG	C,CG	53256.77	.	AC=29,13;AF=0.690,0.310;AN=42;BaseQRankSum=1.54;DP=1738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=30,12;MLEAF=0.714,0.286;MQ=60.00;MQRankSum=0.00;QD=28.91;ReadPosRankSum=-3.970e-01;SOR=0.473	GT:AD:DP:GQ:PL	2/2:2,6,54:62:8:1271,1139,1466,159,8,0	0	10	0	0
chr15	35538431	35538431	G	A	exonic	DPH6	.	nonsynonymous SNV	DPH6:NM_001141972:exon3:c.C155T:p.T52I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.987	D	0.000	D	1.000	D	2.615	M	1.48	T	-0.483	T	0.312	T	0.869	4.650	25.5	5.8	2.761	7.814	20.064	0.565	0.0361869708531	.	.	1.671e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs769995089	8.354e-06	1.026e-05	1.38e-06	1.545e-05	0.0001	4.46e-06	3.52e-06	8.218e-05	6.41e-05	0	0	0	0	0	0	0	0	0.0001	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.91255	D	0.001	0.83351	D	0.997	0.70673	D	0.973	0.72923	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.63	0.76995	M	1.48	0.42502	T	-5.53	0.86073	D	0.932	0.93723	-0.4831	0.69256	T	0.312	0.68264	T	10	0.8456366	0.83728	D	0.036187	0.56830	D	0.565	0.82232	0.788	0.91068	0.640196300337	0.63723	0.8130546266916304	0.81261	0.670847029392	0.59432	0.78668576479	0.79938	T	0.36733	0.75482	T	0.075068	0.61460	D	0.106722	0.77354	D	0.793763909271898	0.45937	D	0.993059	0.97960	D	0.9173158	0.92987	0.9150435	0.96047	0.9173158	0.92988	0.9150435	0.96048	-11.143	0.80436	D	.	.	0.966	0.88789	P	.;.;.	.;.;.	5.275310	0.88578	29.6	0.99917877893034457	0.98518	0.98020	0.78929	D	AEFBI	0.840473	0.75776	D	0.912457775146405	0.92355	11.37673	0.890781793228404	0.95157	13.36347	0.999999999750801	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.8	5.8	0.92081	7.940000	0.87153	11.892000	0.99120	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.064	0.97698	844	0.36711	Diphthamide synthase domain|Diphthamide synthase domain|Diphthamide synthase domain;Diphthamide synthase domain|Diphthamide synthase domain|Diphthamide synthase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	942.98	33	chr15	35538431	.	G	A	942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e+00;DP=759;ExcessHet=0.0000;FS=5.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.46;ReadPosRankSum=-8.800e-01;SOR=1.633	GT:AD:DP:GQ:PL	0/1:30,31:61:99:957,0,853	20	0	1	0
chr15	38484533	38484550	TTATGGTGGAAGAGGGGG	-	exonic	FAM98B	.	nonframeshift deletion	FAM98B:NM_173611:exon8:c.1176_1193del:p.G404_G409del,	.	.	461	1056	5	0	0	5	0.00236183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	.	0.0032	0.0005	0	0	0	0.0006	0	0.0151	3.84e-05	1	26028	rs767356025	0.0012	0.0010	0.0011	0.0013	0.0056	0.0011	0.0011	0.0051	0.0049	0.0004	0.0007	0.0003	0.0040	0.0004	0.0038	0.0009	0.0013	0.0056	0.0006	0.0009	0.0007	0.0006	0.0060	0.0005	0.0005	0.0037	0.0030	0.0001	0	0.0009	0.0003	0.0016	0	0	0.0007	0	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	355.94	14	chr15	38484532	.	ATTATGGTGGAAGAGGGGG	A	355.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.290e-01;DP=355;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.80;ReadPosRankSum=0.184;SOR=0.307	GT:AD:DP:GQ:PL	0/1:10,10:20:99:370,0,355	20	0	1	0
chr15	42685478	42685478	-	TGAGCTCCAA	exonic	STARD9	.	stopgain	STARD9:NM_020759:exon23:c.3900_3901insTGAGCTCCAA:p.P1301*,	.	.	450	458	440	156	18	770	0.450839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0012	0.0047	0	3.84e-05	1	26028	rs760755023	0.0012	0.0011	0.0010	0.0013	0.0035	0.0011	0.0011	0.0029	0.0028	0.0004	0.0006	0.0012	2.803e-05	0.0004	0.0035	0.0011	0.0018	0.0032	0.0023	0.0024	0.0026	0.0021	0.0046	0.0021	0.0020	0.0035	0.0034	0.0005	0.0022	0.0016	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	78588.79	38	chr15	42685478	.	G	A,GTGAGCTCCAA	78588.79	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-2.021e+00;DP=5578;ExcessHet=2.0984;FS=0.534;InbreedingCoeff=-0.0714;MLEAC=13,1;MLEAF=0.310,0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=-9.180e-01;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:228,254,0:482:99:.:.:5857,0,5824,6540,6538,13078	9	2	9	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T,	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.975	D	0.616	P	0.000	D	1.000	D	2.05	M	0.39	T	-0.578	T	0.227	T	0.77	3.235	16.85	4.83	2.163	8.292	14.856	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	189.73	40	chr15	43021291	.	A	G	189.73	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.387e+00;DP=1753;ExcessHet=0.3300;FS=121.510;InbreedingCoeff=-0.0782;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=-7.310e-01;SOR=11.241	GT:AD:DP:GQ:PL	0/1:127,33:160:23:23,0,2273	18	0	3	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.995	M	-2.06	D	0.483	D	0.707	D	0.844	3.820	19.40	5.77	2.729	6.766	13.230	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3824	1772.96	148	chr15	51480616	.	G	C	1772.96	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-4.061e+00;DP=2481;ExcessHet=11.8493;FS=476.218;InbreedingCoeff=-0.5815;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.533;SOR=13.073	GT:AD:DP:GQ:PL	0/1:97,51:158:99:117,0,2096	4	0	13	4
chr15	55230473	55230473	C	T	exonic	RAB27A	.	nonsynonymous SNV	RAB27A:NM_004580:exon3:c.G167A:p.S56N	Griscelli syndrome, type 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	340935	Griscelli_syndrome_type_2|Autoinflammatory_syndrome	MONDO:MONDO:0011872,MedGen:C1868679,OMIM:607624,Orphanet:381,Orphanet:79477|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.003	B	0.003	N	0.999	N	-0.635	N	-0.77	T	-0.976	T	0.119	T	0.234	0.205	5.107	3.47	0.133	0.997	8.907	0.058	0.00996597678746	.	0.000798722	0.0008	0	0	0	0	0	0.0011	0.0059	0.000705	109	154602	rs540520068	0.0003	0.0003	0.0002	0.0005	0.0053	0.0003	0.0003	0.0049	0.0047	0	2.237e-05	0	0	0	0	1.529e-05	0.0006	0.0053	0.0001	0.0001	7.71e-05	0.0002	0.0039	8.163e-05	6.72e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0	0.0039	0.868	0.03307	T	0.559	0.09555	T	0.0	0.02946	B	0.003	0.08700	B	0.002885	0.35770	N	0.348334	0.998623	0.22029	N	0.505	0.13445	N	-0.77	0.73523	T	0.15	0.05810	N	0.044	0.04188	-0.9762	0.35860	T	0.119	0.41799	T	10	0.005645305	0.00125	T	0.009966	0.25946	T	0.058	0.16647	0.358	0.36060	0.245101548738	0.24120	0.4598899479518244	0.45906	0.0175363588794	0.01705	0.386014163494	0.23106	T	0.320004	0.69124	T	-0.436512	0.01356	T	-0.398153	0.33598	T	0.0284147015358934	0.01748	T	0.0345215	0.01086	T	0.04684315	0.07908	0.060645495	0.11584	0.044787794	0.07219	0.06321492	0.12489	-4.354	0.28927	T	.	.	0.087	0.11749	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.873357	0.12461	8.996	0.85494253943101262	0.15928	0.22890	0.21897	N	AEFDGBI	0.098027	0.19761	N	-0.897383351808153	0.10904	0.5234402	-0.646649011665067	0.18302	0.9770536	0.999999918216836	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.618467	0.43123	0	0.654926	0.60358	0	.	.	5.75	3.47	0.38831	1.004000	0.29423	0.306000	0.17032	-0.108000	0.15293	0.754000	0.29177	0.129000	0.22981	0.988000	0.63387	0.0:0.2115:0.0:0.7885	8.907	0.34690	900	0.24599	Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1171.98	33	chr15	55230473	.	C	T	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.207;DP=845;ExcessHet=0.0000;FS=0.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=-1.135e+00;SOR=0.761	GT:AD:DP:GQ:PL	0/1:74,53:127:99:1186,0,1807	20	0	1	0
chr15	62838946	62838946	G	A	exonic	TLN2	.	nonsynonymous SNV	TLN2:NM_015059:exon55:c.G7465A:p.V2489I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.73	P	0.728	P	0.000	D	1.000	D	1.48	L	0.97	T	-0.992	T	0.183	T	0.25	3.981	20.4	5.67	2.671	8.009	19.766	0.123	0.00563018066897	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs766423007	8.893e-06	8.893e-06	2.722e-06	1.513e-05	0.0001	4.96e-06	3.82e-06	7.124e-05	5.482e-05	0	0	0	0	0	0	8.993e-07	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.17014	T	0.519	0.21612	T	0.73	0.42641	P	0.728	0.55195	P	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.29	0.32370	L	0.97	0.42502	T	-0.59	0.17624	N	0.294	0.33250	-0.9919	0.32115	T	0.183	0.53133	T	10	0.26179022	0.43642	T	0.00563	0.14560	T	.	.	0.501	0.59304	0.319921171382	0.31595	0.14202250996768132	0.14125	0.41031363542	0.41817	0.749190807343	0.74328	T	0.132755	0.46304	T	-0.293716	0.09266	T	-0.423011	0.30732	T	0.318807016647972	0.25773	T	0.962404	0.85901	D	0.13077682	0.30504	0.16933554	0.38960	0.13077682	0.30504	0.16933554	0.38959	-4.452	0.30256	T	.	.	0.092	0.13597	B	.;.;.	.;.;.	4.450750	0.69188	25.3	0.99757251034106786	0.84772	0.98209	0.80557	D	AEFBI	0.910409	0.86830	D	0.484376556070484	0.66177	4.91658	0.571836625627048	0.72929	5.887907	0.999999999717443	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.67	5.67	0.87673	8.190000	0.89672	10.000000	0.83036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.766	0.96341	904	0.23766	I/LWEQ domain|I/LWEQ domain|I/LWEQ domain|I/LWEQ domain;I/LWEQ domain|I/LWEQ domain|I/LWEQ domain|I/LWEQ domain;I/LWEQ domain|I/LWEQ domain|I/LWEQ domain|I/LWEQ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1814.98	38	chr15	62838946	.	G	A	1814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.830e-01;DP=961;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=0.433;SOR=0.680	GT:AD:DP:GQ:PL	0/1:56,74:130:99:1829,0,1300	20	0	1	0
chr15	64674848	64674848	C	G	exonic	ZNF609	.	nonsynonymous SNV	ZNF609:NM_015042:exon5:c.C1994G:p.P665R,	.	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.527	P	0.354	B	0.000	D	1.000	D	1.65	L	0.3	T	-0.679	T	0.235	T	0.577	2.359	13.85	5.79	2.735	7.818	20.035	0.242	0.0275025039789	7.7e-05	0.000998403	0.0014	0	0.0003	0.0001	0	0.0001	0.0033	0.0093	0.0011513	178	154602	rs370988343	0.0006	0.0006	0.0003	0.0009	0.0086	0.0006	0.0006	0.0081	0.0079	0	0.0002	0	0	0	0.0012	8.813e-05	0.0008	0.0086	0.0003	0.0003	0.0002	0.0005	0.0068	0.0002	0.0002	0.0050	0.0044	2.407e-05	0	0	0	0.0002	0	0	0.0001	0.0005	0.0068	0.001	0.78490	D	0.002	0.79402	D	0.527	0.37646	P	0.354	0.42942	B	0.000008	0.62929	D	0.150243	1	0.81001	D	2.085	0.57729	M	0.3	0.58755	T	-3.98	0.73788	D	0.536	0.56403	-0.6788	0.61428	T	0.235	0.60160	T	10	0.008863002	0.00201	T	0.027503	0.50302	D	0.242	0.54781	.	.	0.123314135267	0.11883	0.609418126146146	0.60873	0.545019556791	0.51540	0.66153126955	0.61629	T	0.31405	0.68576	T	-0.271287	0.11613	T	-0.156347	0.58678	T	0.113722677235336	0.13805	T	0.89791	0.64303	D	0.3394231	0.56234	0.3945405	0.64145	0.3394231	0.56234	0.3945405	0.64145	-8.445	0.64064	D	.	.	0.461	0.62747	A	.	.	3.658746	0.51965	23.2	0.98048408241377005	0.37851	0.99560	0.97447	D	AEFDBI	0.835235	0.75317	D	0.422563362365316	0.62663	4.486173	0.511649668995853	0.68774	5.266533	0.999999999999963	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	7.905000	0.86479	6.006000	0.52567	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.781000	0.36947	0.0:1.0:0.0:0.0	20.035	0.97554	301	0.87912	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2897.98	34	chr15	64674848	.	C	G	2897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.327e+00;DP=921;ExcessHet=0.0000;FS=9.405;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=0.565;SOR=0.334	GT:AD:DP:GQ:PL	0/1:85,121:206:99:2912,0,2249	20	0	1	0
chr15	65197905	65197905	C	T	exonic	CILP	.	nonsynonymous SNV	CILP:NM_003613:exon9:c.G2381A:p.G794D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.36	M	2.61	T	-0.987	T	0.115	T	0.965	3.961	20.3	5.2	2.584	7.772	18.116	0.748	0.0351269369024	.	.	8.279e-06	0	8.649e-05	0	0	0	0	0	2.59e-05	4	154602	rs760197046	2.736e-06	2.736e-06	1.361e-06	4.125e-06	8.945e-05	6.4e-07	4.3e-07	2.985e-05	1.804e-05	0	8.945e-05	0	0	0	0	0	0	0	1.315e-05	1.313e-05	0	2.692e-05	0.0001	2.19e-06	8.2e-07	2.263e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.006	0.61437	D	0.014	0.62352	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.585	0.75554	M	2.61	0.13095	T	-5.17	0.83489	D	0.975	0.98563	-0.9874	0.33249	T	0.115	0.40831	T	10	0.9087615	0.90241	D	0.035127	0.56139	D	0.748	0.91328	0.774	0.90002	0.666185256998	0.66337	0.9275213517823698	0.92730	0.630584744135	0.57042	0.884446024895	0.94551	D	0.522879	0.83347	D	0.0774619	0.61743	D	0.0704637	0.74941	D	0.989850521087646	0.80073	D	0.955704	0.83186	D	0.75248444	0.81013	0.7352574	0.84353	0.75248444	0.81014	0.7352574	0.84354	-13.213	0.90220	D	.	.	0.944	0.86284	P	.	.	4.546651	0.71521	25.7	0.99769164771846197	0.85750	0.97924	0.78163	D	AEFBI	0.967774	0.99026	D	0.843755784289383	0.88749	9.697034	0.809567710933621	0.90453	10.41318	0.999999988831644	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.2	5.2	0.71720	7.902000	0.86082	7.654000	0.63860	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.116	0.89484	636	0.64483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2329.98	75	chr15	65197905	.	C	T	2329.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.216;DP=2010;ExcessHet=0.0000;FS=1.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=2.38;SOR=0.787	GT:AD:DP:GQ:PL	0/1:103,88:191:99:2344,0,2696	20	0	1	0
chr15	65965031	65965031	G	A	exonic	MEGF11	.	nonsynonymous SNV	MEGF11:NM_001385030:exon7:c.C764T:p.T255M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.993	D	0.84	P	0.110	U	1.000	N	3.195	M	2.38	T	-0.744	T	0.114	T	0.236	3.504	17.91	3.99	2.311	2.135	7.529	0.171	0.0939259794913	.	0.00139776	0.0005	0	0	0	0	0	0	0.0023	0.0002199	34	154602	rs528077898	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0001	0.0020	0.0019	3.047e-05	0	0	2.625e-05	0	0.0004	4.011e-05	0.0002	0.0023	0.0001	0.0001	6.421e-05	0.0002	0.0027	8.655e-05	7.249e-05	0.0016	0.0013	0	0	0	0	0.0002	0	0	8.818e-05	0	0.0027	0.003	0.78490	D	0.017	0.69154	D	0.989	0.65571	D	0.776	0.60170	P	0.109760	0.19471	U	0.361272	1	0.81001	D	2.73	0.79844	M	2.38	0.15843	T	-2.31	0.54059	N	0.326	0.38746	-0.7442	0.58237	T	0.114	0.40490	T	10	0.01377368	0.00291	T	0.093926	0.76161	D	0.171	0.43483	0.177	0.08379	0.507628581994	0.50403	0.13171059410914254	0.13096	0.336386006611	0.35634	0.485860645771	0.36866	T	0.135651	0.46759	T	-0.488975	0.00658	T	-0.488385	0.23560	T	0.251829942922954	0.22955	T	0.934707	0.77145	D	0.08396275	0.19412	0.1638149	0.37982	0.08396275	0.19412	0.1638149	0.37981	-8.255	0.62794	D	.	.	0.158	0.47643	B	.;.;.;.;.	.;.;.;.;.	4.691305	0.75173	26.3	0.99828325513387617	0.91026	0.75786	0.37125	D	AEFBHCI	0.424476	0.48963	N	0.611640218912017	0.73910	6.043837	0.523274973125925	0.69559	5.377775	0.888258650453456	0.25784	0.57788	0.32782	0	0.586423	0.34054	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.97	3.99	0.45527	1.746000	0.37915	6.507000	0.55798	0.665000	0.62972	0.971000	0.34370	1.000000	0.68203	0.476000	0.28476	0.0:0.1442:0.5613:0.2945	7.529	0.26843	182	0.92924	EGF-like domain|Laminin EGF domain|EGF-like domain;.;EGF-like domain|Laminin EGF domain|EGF-like domain;EGF-like domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|EGF-like domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1209.98	54	chr15	65965031	.	G	A	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.226e+00;DP=1248;ExcessHet=0.0000;FS=0.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-8.110e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1224,0,1441	20	0	1	0
chr15	71771147	71771147	C	A	exonic	THSD4	.	nonsynonymous SNV	THSD4:NM_001286429:exon11:c.C1773A:p.D591E	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.998	D	0.936	D	.	.	0.957	D	1.435	L	0.81	T	-0.845	T	0.158	T	0.217	2.439	14.11	4.12	2.353	0.170	8.327	0.112	0.0113781897417	.	.	6.625e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs751891282	3.762e-05	3.762e-05	2.45e-05	5.088e-05	0.0006	2.959e-05	2.655e-05	0.0005	0.0004	0	0	0	2.519e-05	0	0	1.799e-06	1.656e-05	0.0006	3.286e-05	3.284e-05	0	6.726e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.218	0.19090	T	0.15	0.38596	T	0.998	0.73220	D	0.936	0.67150	D	.	.	.	.	0.957346	0.38019	D	2.115	0.58683	M	0.81	0.48460	T	-1.33	0.33197	N	0.248	0.28264	-0.8446	0.52338	T	0.158	0.49145	T	9	0.11749232	0.22189	T	0.011378	0.28946	T	0.112	0.31546	0.149	0.05238	0.33440975612	0.33058	0.33434118944225466	0.33347	0.408431882376	0.41683	0.558098375797	0.46999	T	0.026212	0.19446	T	-0.429675	0.01489	T	-0.498598	0.22493	T	0.32132488489151	0.25876	T	0.715028	0.33695	T	0.07280718	0.16224	0.1249809	0.30119	0.07280718	0.16224	0.1249809	0.30119	-6.395	0.51425	T	.	.	0.155	0.34361	B	.;.	.;.	3.150710	0.42647	21.6	0.99516403169361622	0.68979	0.66994	0.33273	D	AEFBI	0.345222	0.44045	N	0.143314900480539	0.48496	3.061145	0.138186097655262	0.46520	2.896609	0.165718799448745	0.17661	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.05	4.12	0.47504	0.265000	0.18282	2.593000	0.33479	0.599000	0.40250	0.898000	0.31380	1.000000	0.68203	0.998000	0.85391	0.0:0.8183:0.0:0.1817	8.327	0.31326	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	0	0	0	0	0.02381	1454.98	33	chr15	71771147	.	C	A	1454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.295e+00;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.690e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1469,0,1179	20	0	1	0
chr15	74620119	74620119	G	A	exonic	CLK3	.	nonsynonymous SNV	CLK3:NM_001130028:exon3:c.G263A:p.R88H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.756	P	0.098	B	0.000	D	1.000	D	0.14	N	0.71	T	-1.074	T	0.052	T	0.48	3.196	16.70	5.04	1.535	3.227	10.914	0.160	0.015386502752	.	.	0.0003	0.0002	0.0002	0.0025	0.0009	1.499e-05	0	0	0.0002135	33	154602	rs761442417	0.0001	0.0001	9.665e-05	0.0001	0.0024	8.713e-05	8.2e-05	0.0020	0.0019	5.974e-05	4.472e-05	0	0.0024	0.0006	0	1.079e-05	4.967e-05	3.478e-05	0.0002	0.0002	7.706e-05	0.0003	0.0008	0.0001	0.0001	0.0003	0.0002	9.619e-05	0	6.537e-05	0	0.0008	0.0019	0	2.94e-05	0	0	0.578	0.91255	T	0.402	0.36101	T	0.449	0.36046	B	0.04	0.23831	B	0.000002	0.62929	D	0.000000	0.998434	0.53665	D	1.245	0.31408	L	0.71	0.53516	T	-0.1	0.82341	N	0.39	0.43126	-1.0737	0.08619	T	0.052	0.22076	T	10	0.008366376	0.00190	T	0.015387	0.36094	T	0.160	0.41473	0.271	0.22052	0.445922450684	0.44216	0.2698311778588867	0.26896	0.746381965392	0.63542	0.617707669735	0.55404	T	0.071404	0.34951	T	-0.359099	0.04181	T	-0.294765	0.45275	T	0.0359521841505588	0.02972	T	0.777122	0.46458	T	0.036368743	0.04459	0.049245194	0.07486	0.036368743	0.04459	0.049245194	0.07485	-4.334	0.28996	T	.	.	0.087	0.22171	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.265134	0.64845	24.8	0.99797156372671403	0.88194	0.78128	0.38501	D	AEFDBCI	0.239357	0.36133	N	-0.356282408697133	0.27043	1.480572	-0.170193422020522	0.32638	1.858947	0.999999717316484	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.95	5.04	0.67293	2.798000	0.47578	6.711000	0.56401	-0.106000	0.15538	0.993000	0.37899	1.000000	0.68203	0.981000	0.58702	0.1436:0.0:0.8564:0.0	10.914	0.46337	662	0.61715	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2401.98	34	chr15	74620119	.	G	A	2401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.093e+00;DP=917;ExcessHet=0.0000;FS=0.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=-1.039e+00;SOR=0.655	GT:AD:DP:GQ:PL	0/1:119,105:224:99:2416,0,2882	20	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	139.33	41	chr15	75351353	.	G	A	139.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.004e+00;DP=695;ExcessHet=0.0000;FS=2.656;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=5.36;ReadPosRankSum=-8.830e-01;SOR=1.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,6:26:99:0|1:75351353_G_A:153,0,808:75351353	19	0	1	1
chr15	75689603	75689603	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1462A:p.A488T,	.	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.615	P	0.159	B	0.000	D	0.983	D	1.555	L	2.13	T	-1.091	T	0.042	T	0.417	0.690	7.683	5.12	2.375	3.620	13.061	0.174	.	.	0.00599042	0.0243	0.0096	0.0137	0.0200	0.0142	0.0332	0.0183	0.0128	0.0012679	33	26028	rs72732868	0.0008	0.0079	0.0008	0.0008	0.0082	0.0007	0.0007	0.0074	0.0072	0.0002	0.0003	0.0006	0.0082	0.0002	0.0009	0.0006	0.0006	0.0003	0.0007	0.0031	0.0006	0.0009	0.0111	0.0006	0.0006	0.0088	0.0080	0.0001	0	0.0004	0.0003	0.0111	0.0002	0	0.0005	0.0010	0.0008	0.194	0.20835	T	0.012	0.63918	D	0.615	0.39791	P	0.159	0.34693	B	0.000419	0.44736	D	0.093684	0.983141	0.39978	D	1.79	0.46772	L	2.13	0.19588	T	-0.83	0.22727	N	0.179	0.19325	-1.0915	0.05286	T	0.042	0.17910	T	10	0.0058493316	0.00131	T	.	.	.	0.174	0.44019	.	.	.	.	0.42678734187444106	0.42595	0.626776388847	0.56798	0.354917347431	0.18644	T	0.075735	0.35250	T	-0.143714	0.29299	T	-0.444211	0.28337	T	0.013029156001717	0.00227	T	0.729327	0.34443	T	0.08869844	0.20700	0.09523169	0.22578	0.08869844	0.20700	0.09523169	0.22577	-3.743	0.19955	T	.	.	0.206	0.43227	B	.	.	2.280329	0.29155	18.03	0.98388572036927513	0.40936	0.78470	0.38718	D	AEFBI	0.133191	0.25277	N	-0.0988076745998395	0.37445	2.178575	-0.056196607839385	0.37223	2.17657	0.997347920073087	0.35520	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.12	5.12	0.69459	3.093000	0.49912	2.681000	0.34017	0.524000	0.24156	0.985000	0.35982	0.992000	0.31684	0.005000	0.06747	0.1615:0.8385:0.0:0.0	13.061	0.58419	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.119	1383.43	40	chr15	75689603	.	C	T	1383.43	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.220e-01;DP=1187;ExcessHet=1.1607;FS=11.205;InbreedingCoeff=-0.1337;MLEAC=5;MLEAF=0.119;MQ=58.37;MQRankSum=-8.802e+00;QD=2.81;ReadPosRankSum=-2.432e+00;SOR=1.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,7:98:13:0|1:75689603_C_T:13,0,3765:75689603	16	0	5	0
chr15	75689635	75689635	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1430A:p.R477H,	.	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.513	P	0.079	B	0.000	D	0.953	N	1.79	L	2.14	T	-1.046	T	0.043	T	0.372	1.107	9.517	4.19	2.375	1.407	9.359	0.068	0.0120667652604	.	.	0.0066	0.0030	0.0036	0.0006	0.0030	0.0091	0.0045	0.0054	3.84e-05	1	26028	rs200493777	7.295e-05	0.0015	7.395e-05	7.193e-05	0.0008	6.151e-05	5.734e-05	0.0005	0.0005	0.0008	0.0001	0	0.0002	0.0001	0.0005	4.339e-05	6.65e-05	6.975e-05	0.0004	0.0022	0.0003	0.0004	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0.0003	0	0.0003	0	8.969e-05	0.0005	0.0004	0.544	0.06713	T	0.024	0.56640	D	0.513	0.37366	P	0.079	0.28749	B	0.000447	0.44317	D	0.096704	0.953023	0.26418	N	2.595	0.75868	M	2.14	0.19450	T	-1.73	0.41046	N	0.24	0.27077	-1.0460	0.15534	T	0.043	0.18326	T	10	0.00795725	0.00181	T	0.012067	0.30309	T	0.068	0.19811	.	.	0.366659145958	0.36277	0.5800590243062339	0.57934	0.423483163706	0.42806	0.293441236019	0.09426	T	0.182449	0.53447	T	-0.172229	0.24898	T	-0.485171	0.23899	T	0.0405854374412424	0.03796	T	0.773423	0.40508	T	0.036069673	0.04365	0.037466243	0.03404	0.036069673	0.04365	0.037466243	0.03404	-4.29	0.28037	T	.	.	0.075	0.05711	B	.	.	1.613444	0.20617	14.83	0.98479293593176109	0.41954	0.24936	0.22547	N	AEFBI	0.188776	0.31604	N	-0.352546072684954	0.27179	1.489096	-0.401571392193893	0.24950	1.369288	0.99754577931452	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.12	4.19	0.48645	0.882000	0.27824	1.349000	0.25794	0.524000	0.24156	0.003000	0.16062	0.750000	0.26544	0.003000	0.05239	0.0:0.8315:0.0:0.1685	9.359	0.37349	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1667	1598.59	40	chr15	75689635	.	C	T	1598.59	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.980;DP=1516;ExcessHet=2.5830;FS=16.480;InbreedingCoeff=-0.2002;MLEAC=7;MLEAF=0.167;MQ=58.06;MQRankSum=-9.104e+00;QD=2.13;ReadPosRankSum=-1.467e+00;SOR=2.354	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,13:114:99:0|1:75689631_A_G:236,0,4144:75689631	14	0	7	0
chr15	78774723	78774723	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon12:c.C1777T:p.P593S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.954	P	0.548	P	0.004	N	0.999	D	3.055	M	3.17	T	-1.010	T	0.051	T	0.326	1.852	12.15	3.51	1.986	3.564	14.273	0.122	.	.	.	0.0369	0.0305	0.0258	0.0477	0.0263	0.0318	0.0538	0.0687	0.0004592	71	154602	rs201460425	0.0025	0.0043	0.0025	0.0024	0.0072	0.0024	0.0024	0.0065	0.0062	0.0072	0.0020	0.0007	0.0023	0.0021	0.0007	0.0026	0.0026	0.0006	0.0049	0.0091	0.0050	0.0048	0.0096	0.0046	0.0045	0.0088	0.0085	0.0096	0.0022	0.0028	0.0003	0.0032	0.0025	0	0.0036	0.0059	0.0004	0.053	0.38863	T	0.212	0.26549	T	0.954	0.54400	P	0.548	0.49136	P	0.004364	0.33816	N	0.281918	0.998507	0.45007	D	.	.	.	3.17	0.07599	T	-4.92	0.81675	D	0.169	0.17966	-1.0095	0.27074	T	0.051	0.21572	T	10	0.005546659	0.00123	T	.	.	.	0.122	0.33800	.	.	.	.	0.5780229630897993	0.57731	0.324340639532	0.34596	0.60536634922	0.53662	T	0.086728	0.37789	T	-0.159542	0.26830	T	-0.466948	0.25846	T	0.0377478931602939	0.03289	T	0.70113	0.31087	T	0.11712926	0.27617	0.21822624	0.46517	0.11712926	0.27617	0.21822624	0.46516	-9.579	0.71350	D	.	.	0.104	0.18705	B	.	.	4.092474	0.60962	24.3	0.99409108751348974	0.63169	0.92631	0.56167	D	AEFGBI	0.572820	0.57625	D	0.210878814688326	0.51724	3.351574	0.168724245452525	0.48142	3.034236	0.999570346407743	0.40495	0.732398	0.92422	0	0.588015	0.36545	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	3.51	3.51	0.39297	3.810000	0.55318	6.276000	0.55373	0.505000	0.23025	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.0:1.0:0.0	14.273	0.65712	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	446.98	44	chr15	78774723	.	G	A	446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.18;DP=1094;ExcessHet=0.0000;FS=21.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.16;MQRankSum=-1.109e+01;QD=3.44;ReadPosRankSum=0.969;SOR=3.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,19:130:99:1|0:78774713_C_T:461,0,4591:78774713	20	0	1	0
chr15	79456353	79456353	T	G	exonic	MINAR1	.	nonsynonymous SNV	MINAR1:NM_015206:exon2:c.T206G:p.M69R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.896	P	0.000	D	1.000	D	2.075	M	1.57	T	-0.890	T	0.167	T	0.943	3.785	19.22	5.66	2.151	4.550	15.878	0.277	0.0601766976881	.	0.000199681	9.062e-05	0	8.639e-05	0	0	1.499e-05	0	0.0005	7.76e-05	12	154602	rs573865001	4.72e-05	4.72e-05	2.45e-05	7.013e-05	0.0008	3.793e-05	3.476e-05	0.0006	0.0006	0	0	0	0	0	0	8.993e-07	1.656e-05	0.0008	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.001	0.78490	D	0.004	0.74150	D	.	.	.	.	.	.	0.000003	0.62929	D	0.138647	1	0.81001	D	.	.	.	1.57	0.29342	T	-5.5	0.85844	D	0.932	0.93723	-0.8899	0.48943	T	0.167	0.50518	T	9	0.51414466	0.62268	D	0.060177	0.67912	D	0.277	0.59375	0.365	0.37199	0.289474373501	0.28556	0.6993729882756442	0.69878	0.146246402447	0.16512	0.694868147373	0.66404	T	.	.	.	-0.0598555	0.42931	T	0.0438378	0.73179	D	0.499938249588013	0.32627	T	0.844016	0.52137	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.752	0.75132	P	.	.	2.849099	0.37614	20.5	0.98627759084571587	0.43866	0.97093	0.72648	D	AEFBI	0.656960	0.62876	D	0.614981993653112	0.74122	6.079253	0.615455992739756	0.76063	6.422312	0.999998085207384	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.66	5.66	0.87293	4.532000	0.60321	1.059000	0.23704	-0.184000	0.09925	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.878	0.78960	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2981.98	33	chr15	79456353	.	T	G	2981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.507;DP=915;ExcessHet=0.0000;FS=3.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.845;SOR=0.646	GT:AD:DP:GQ:PL	0/1:103,118:221:99:2996,0,2629	20	0	1	0
chr15	82344827	82344827	G	A	exonic	GOLGA6L10	.	nonsynonymous SNV	GOLGA6L10:NM_001164465:exon6:c.C1033T:p.R345W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	N	0.805	L	1.79	T	-1.009	T	0.044	T	0.194	0.648	7.480	0.455	0.544	-2.954	4.285	0.011	0.0016413499122	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1396477996	8.394e-05	0.0002	7.575e-05	9.233e-05	0.0004	7.122e-05	6.628e-05	0.0003	0.0002	0.0003	0.0003	0	0.0001	0	0	4.915e-05	0.0002	0.0004	0.0002	0.0004	0.0002	0.0001	0.0003	0.0001	8.766e-05	0.0002	0.0001	0.0003	0	0.0002	0	0	9.459e-05	0	0.0001	0	0.0002	.	.	.	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.22614	.	.	.	.	.	.	.	0.08761579	0.15008	T	0.005078	0.12877	T	.	.	.	.	0.0401082797425	0.02173	0.05652322472568306	0.05593	.	.	0.49829107523	0.38590	T	0.024497	0.18499	T	-0.224125	0.17434	T	-0.559717	0.16404	T	.	.	.	0.635136	0.24942	T	0.09370802	0.22014	0.07749168	0.17268	0.09370802	0.22014	0.07749168	0.17267	-4.342	0.28761	T	.	.	0.112	0.34732	B	.;.;.	.;.;.	1.532841	0.19665	14.38	0.87300218615592506	0.17129	0.01099	0.04035	N	AEFI	0.070640	0.14031	N	.	.	.	.	.	.	1.27511258221004E-4	0.05386	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	-2.567000	0.00991	0.017000	0.13531	0.168000	0.17747	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.001:0.0:0.999:0.0	5.818	0.17765	799	0.44747	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	219.98	37	chr15	82344827	.	G	A	219.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=910;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.07;MQRankSum=-1.356e+00;QD=2.65;ReadPosRankSum=-1.006e+00;SOR=0.588	GT:AD:DP:GQ:PL	0/1:68,15:83:99:234,0,1742	20	0	1	0
chr15	82344935	82344935	G	0	exonic	GOLGA6L10	.	.	.	.	.	531	861	98	1	31	131	0.0548847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	326.23	37	chr15	82344935	.	G	A,*	326.23	.	AC=1,5;AF=0.025,0.125;AN=40;DP=1617;ExcessHet=1.8958;FS=22.164;InbreedingCoeff=-0.0857;MLEAC=1,5;MLEAF=0.025,0.125;MQ=34.00;QD=0.61;SOR=1.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:143,0,24:167:99:.:.:329,793,6838,0,5780,5676	14	0	1	1
chr15	82344942	82344942	T	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	976.39	35	chr15	82344942	.	T	C,*	976.39	.	AC=2,5;AF=0.125,0.313;AN=16;BaseQRankSum=2.59;DP=1794;ExcessHet=0.5718;FS=29.828;InbreedingCoeff=-0.0755;MLEAC=4,9;MLEAF=0.250,0.563;MQ=47.54;MQRankSum=-4.628e+00;QD=1.84;ReadPosRankSum=1.21;SOR=1.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:143,0,24:167:99:.:.:329,793,6838,0,5780,5676	2	1	0	13
chr15	82344983	82344983	A	0	exonic	GOLGA6L10	.	.	.	.	.	756	655	109	0	2	111	0.0768147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	49.01	27	chr15	82344983	.	A	*,G	49.01	.	AC=5,1;AF=0.167,0.033;AN=30;BaseQRankSum=-9.670e-01;DP=1596;ExcessHet=0.1504;FS=28.441;InbreedingCoeff=0.0481;MLEAC=6,1;MLEAF=0.200,0.033;MQ=38.57;MQRankSum=0.118;QD=0.10;ReadPosRankSum=-5.820e-01;SOR=1.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:143,24,0:167:99:.:.:329,0,5676,793,5780,6838	10	0	4	6
chr15	82344984	82344984	C	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	48.58	9	chr15	82344984	.	C	*,T	48.58	.	AC=6,1;AF=0.188,0.031;AN=32;BaseQRankSum=-9.670e-01;DP=1652;ExcessHet=0.3087;FS=24.087;InbreedingCoeff=-0.0422;MLEAC=7,1;MLEAF=0.219,0.031;MQ=46.42;MQRankSum=0.118;QD=0.08;ReadPosRankSum=-4.680e-01;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:143,24,0:167:99:.:.:329,0,5676,793,5780,6838	10	0	5	5
chr15	82345004	82345046	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	718.55	4	chr15	82345004	.	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	*,A,GTAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	718.55	.	AC=4,1,1;AF=0.200,0.050,0.050;AN=20;BaseQRankSum=1.91;DP=1733;ExcessHet=2.6804;FS=27.756;InbreedingCoeff=-0.1646;MLEAC=7,2,2;MLEAF=0.350,0.100,0.100;MQ=47.51;MQRankSum=-6.640e+00;QD=1.18;ReadPosRankSum=-1.278e+00;SOR=1.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:143,24,0,0:167:99:.:.:329,0,5676,793,5780,6838,793,5780,6838,6838	4	0	4	11
chr15	82345005	82345005	T	0	exonic	GOLGA6L10	.	.	.	.	.	50	129	12	1	34	48	0.0514706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	40.9	8	chr15	82345005	.	T	C,*	40.9	.	AC=1,5;AF=0.038,0.192;AN=26;BaseQRankSum=0.967;DP=1706;ExcessHet=2.4752;FS=28.441;InbreedingCoeff=-0.0786;MLEAC=1,7;MLEAF=0.038,0.269;MQ=32.71;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-9.670e-01;SOR=1.557	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:143,0,24:167:99:.:.:329,793,6838,0,5780,5676	7	0	1	8
chr15	82345025	82345025	G	0	exonic	GOLGA6L10	.	.	.	.	.	642	820	47	0	13	60	0.0278601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	307.4	24	chr15	82345025	.	G	A,*	307.4	.	AC=1,5;AF=0.026,0.132;AN=38;DP=1749;ExcessHet=2.0135;FS=30.096;InbreedingCoeff=-0.1941;MLEAC=1,5;MLEAF=0.026,0.132;MQ=37.25;QD=0.49;SOR=1.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:143,0,24:167:99:.:.:329,793,6838,0,5780,5676	13	0	1	2
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,36,7:150:99:.:.:654,0,5331,907,3149,6576	11	0	5	2
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0017	0.0007	0.0007	0.0028	0.0007	0.0006	0.0020	0.0017	0.0007	0.0010	0.0026	0.0028	0.0016	0.0008	0.0006	0.0014	0.0005	0.0006	0.0016	0.0005	0.0007	0.0028	0.0004	0.0004	0.0011	0.0007	0.0005	0	0.0003	0.0005	0	0.0017	0	0.0004	0.0010	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,36,7:150:99:.:.:654,0,5331,907,3149,6576	11	0	5	2
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1995.03	118	chr15	82345087	.	C	T,*	1995.03	.	AC=3,4;AF=0.083,0.111;AN=36;BaseQRankSum=0.682;DP=2432;ExcessHet=2.7391;FS=0.630;InbreedingCoeff=-0.2500;MLEAC=3,4;MLEAF=0.083,0.111;MQ=38.42;MQRankSum=-1.259e+00;QD=2.52;ReadPosRankSum=-2.066e+00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,32,7:146:99:.:.:631,0,4089,829,3126,5529	11	0	3	3
chr15	82345868	82345868	T	A	exonic	GOLGA6L10	.	nonsynonymous SNV	GOLGA6L10:NM_001164465:exon5:c.A374T:p.H125L	.	.	446	1074	2	0	0	2	0.000930233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	1.04	L	2.35	T	-0.998	T	0.030	T	0.291	-0.373	2.243	-0.218	-1.195	0.341	.	0.029	0.000489679225593	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1267183438	0.0003	0.0006	0.0003	0.0003	0.0115	0.0003	0.0003	0.0106	0.0102	3.275e-05	2.772e-05	0	0.0115	0	0	9.378e-07	0.0004	1.26e-05	0.0003	0.0005	0.0003	0.0003	0.0072	0.0003	0.0002	0.0054	0.0047	0.0003	0	6.536e-05	0	0.0072	0	0	0	0	0	.	.	.	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.26354	.	.	.	.	.	.	.	0.02086401	0.00488	T	0.001025	0.01120	T	.	.	.	.	0.0401082797425	0.02173	0.010448428123173531	0.01005	.	.	0.774800240993	0.78144	T	0.037533	0.24511	T	-0.22965	0.16695	T	-0.567653	0.15665	T	.	.	.	0.49985	0.15613	T	0.10348301	0.24460	0.15875788	0.37059	0.10348301	0.24460	0.15875788	0.37058	-1.8	0.02509	T	.	.	0.132	0.28464	B	.;.;.	.;.;.	-0.475100	0.01948	0.167	0.65685876870735671	0.07843	0.06216	0.12203	N	AEFI	0.032911	0.03808	N	.	.	.	.	.	.	1.09504484601568E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.331000	0.19477	-3.059000	0.03098	-3.410000	0.00088	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	.	.	.	804	0.43891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	406.02	35	chr15	82345868	.	T	A	406.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=46.16;MQRankSum=1.56;QD=3.10;ReadPosRankSum=-1.887e+00;SOR=0.601	GT:AD:DP:GQ:PL	0/1:104,27:131:99:420,0,2626	20	0	1	0
chr15	83008519	83008519	-	A	exonic	C15orf40	.	frameshift insertion	C15orf40:NM_001160113:exon3:c.394dupT:p.L132Ffs*69,	.	.	452	773	160	3	134	300	0.0969626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4025.8	36	chr15	83008518	.	CA	C,CAA	4025.8	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-3.980e-01;DP=1512;ExcessHet=11.8493;FS=0.573;InbreedingCoeff=-0.4535;MLEAC=5,8;MLEAF=0.119,0.190;MQ=59.99;MQRankSum=0.00;QD=4.26;ReadPosRankSum=0.964;SOR=0.734	GT:AD:DP:GQ:PL	0/2:42,2,19:63:99:272,401,1511,0,915,918	8	0	5	0
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4524.06	139	chr15	84512452	.	C	T,*	4524.06	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-4.670e-01;DP=3555;ExcessHet=11.8493;FS=1.281;InbreedingCoeff=-0.4584;MLEAC=5,8;MLEAF=0.119,0.190;MQ=45.57;MQRankSum=1.25;QD=1.92;ReadPosRankSum=0.576;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,47,0:186:99:0|1:84512452_C_T:842,0,4325,1342,3983,5700:84512452	8	0	5	0
chr15	84512764	84512764	T	A	exonic	GOLGA6L4	.	unknown	UNKNOWN,	.	.	529	990	3	0	0	3	0.00151286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1182290548	0.0003	0.0008	0.0002	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	0	7.533e-05	0.0003	0	0	0.0003	2.644e-05	0.0004	0.0041	0.0001	0.0003	0.0001	0.0002	0.0031	8.333e-05	6.742e-05	0.0017	0.0013	0	0	0	0.0008	0	0	0	4.021e-05	0.0007	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	160.15	35	chr15	84512764	.	T	A	160.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=638;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0288;MLEAC=1;MLEAF=0.024;MQ=39.31;MQRankSum=0.901;QD=4.00;ReadPosRankSum=0.778;SOR=0.693	GT:AD:DP:GQ:PL	0/1:31,9:40:99:174,0,928	20	0	1	0
chr15	85117697	85117697	-	A	exonic	PDE8A	.	frameshift insertion	PDE8A:NM_173454:exon16:c.1455dupA:p.H486Tfs*32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3008.94	35	chr15	85117697	.	T	TA	3008.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.095;DP=886;ExcessHet=0.0000;FS=1.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.18;ReadPosRankSum=1.08;SOR=0.596	GT:AD:DP:GQ:PL	0/1:90,96:186:99:3023,0,2812	20	0	1	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	0/1:85,62,0:147:99:1529,0,2083,1784,2269,4053	0	11	9	0
chr15	85722278	85722278	A	C	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_001270546:exon17:c.A2290C:p.I764L	.	.	422	1086	14	0	0	14	0.00640439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.997	D	0.994	D	.	.	1.000	D	1.49	L	1.08	T	-0.745	T	0.210	T	0.632	5.295	34	5.69	2.150	7.161	15.117	0.266	.	.	0.00379393	0.0022	0	8.637e-05	0.0001	0	4.506e-05	0	0.0159	0.0018823	291	154602	rs565146846	0.0009	0.0009	0.0005	0.0014	0.0150	0.0009	0.0009	0.0143	0.0141	0	8.955e-05	0	5.038e-05	0	0.0021	8.994e-06	0.0008	0.0150	0.0005	0.0005	0.0002	0.0007	0.0145	0.0004	0.0004	0.0118	0.0108	0	0	0.0003	0	0	0	0	0	0	0.0145	0.017	0.51248	D	0.013	0.66756	D	0.997	0.70673	D	0.994	0.82059	D	.	.	.	.	0.999998	0.58761	D	2.135	0.59519	M	1.08	0.39401	T	-1.8	0.42384	N	0.549	0.65673	-0.7447	0.58211	T	0.210	0.56959	T	9	0.010322779	0.00230	T	.	.	.	0.266	0.57999	0.601	0.73226	0.547203082319	0.54374	0.42333860662965694	0.42250	0.269806196692	0.29503	0.762062847614	0.76236	T	0.104875	0.41484	T	-0.308529	0.07878	T	-0.203633	0.54302	T	0.0645808325575353	0.07869	T	0.909909	0.80719	D	0.4407101	0.63448	0.2719383	0.53099	0.4407101	0.63448	0.2719383	0.53098	-10.38	0.76155	D	.	.	0.355	0.59211	A	.;.;.;.;.	.;.;.;.;.	4.047833	0.59975	24.2	0.99454272035467284	0.65427	0.98982	0.89513	D	AEFDGBI	0.865030	0.78399	D	0.707371698086689	0.80118	7.223529	0.719570014819262	0.83864	8.135223	0.999999999998743	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	7.147000	0.76970	9.285000	0.79745	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.117	0.72085	763	0.50172	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5986.11	33	chr15	85722278	.	A	C	5986.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.93;DP=1099;ExcessHet=0.1072;FS=0.529;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=1.05;SOR=0.740	GT:AD:DP:GQ:PL	0/1:103,125:228:99:3441,0,2587	19	0	2	0
chr15	88630061	88630061	G	A	exonic	AEN	.	nonsynonymous SNV	AEN:NM_022767:exon4:c.G745A:p.G249S,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.21	M	1.62	T	-0.753	T	0.206	T	0.6	4.218	21.9	5.63	2.647	4.921	18.645	0.308	.	7.7e-05	0.00958466	0.0050	9.787e-05	0.0002	0.0013	0	0.0001	0.0022	0.0349	0.0043919	679	154602	rs372899718	0.0020	0.0020	0.0012	0.0028	0.0303	0.0019	0.0019	0.0293	0.0289	0.0002	8.944e-05	0.0008	0.0005	0	0.0010	2.428e-05	0.0032	0.0303	0.0013	0.0013	0.0007	0.0019	0.0348	0.0011	0.0011	0.0305	0.0289	0.0002	0	6.535e-05	0.0014	0.0013	0	0	0	0.0009	0.0348	0.094	0.31383	T	0.067	0.44302	T	1.0	0.90584	D	0.999	0.92359	D	0.000012	0.62929	D	0.000000	1	0.81001	D	2.105	0.58435	M	1.62	0.28189	T	-5.29	0.84315	D	0.491	0.52475	-0.7526	0.57799	T	0.206	0.56499	T	10	0.004793614	0.00101	T	.	.	.	0.308	0.62947	.	.	0.525205403968	0.52167	0.37011107964276724	0.36925	0.364911905258	0.38099	0.574573040009	0.49323	T	0.061505	0.31672	T	-0.387362	0.02797	T	-0.30482	0.44212	T	0.0890674717291404	0.11107	T	0.836716	0.50835	T	0.54602003	0.69734	0.5121761	0.71811	0.54602003	0.69735	0.5121761	0.71812	-8.073	0.61567	D	.	.	0.148	0.32780	B	.	.	4.020936	0.59386	24.1	0.99837386479123691	0.91800	0.96310	0.68515	D	AEFGBCI	0.735217	0.68110	D	0.662009052426187	0.77146	6.619264	0.606903631807125	0.75438	6.310915	0.999999999999988	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.63	5.63	0.86108	6.009000	0.70403	9.821000	0.81804	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.685000	0.33688	0.0:0.0:1.0:0.0	18.645	0.91366	919	0.19497	Exonuclease, RNase T/DNA polymerase III|Exonuclease, RNase T/DNA polymerase III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1753.98	36	chr15	88630061	.	G	A	1753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.094;DP=813;ExcessHet=0.0000;FS=2.405;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=0.897;SOR=0.994	GT:AD:DP:GQ:PL	0/1:58,66:124:99:1768,0,1583	20	0	1	0
chr15	89333605	89333605	-	TGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCA:p.Q55_P56insQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/3:33,0,0,46:79:99:1756,1858,3226,1858,3226,3226,0,1368,1368,1230	8	0	10	0
chr15	89333597	89333605	TGCTGCTGC	-	exonic	POLG	.	nonframeshift deletion	POLG:NM_001126131:exon2:c.150_158del:p.Q53_Q55del	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203057	Inborn_genetic_diseases|not_specified|Hereditary_spastic_paraplegia|POLG-related_disorder|Progressive_sclerosing_poliodystrophy|not_provided|Mitochondrial_DNA_depletion_syndrome_4b|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Mitochondrial_DNA_depletion_syndrome_1	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:CN180166|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MedGen:C3661900|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0022	0.0012	0.0025	0.0006	0.0027	0.0018	0.0033	0.0014683	227	154602	rs756833779	0.0024	0.0024	0.0024	0.0024	0.0035	0.0024	0.0023	0.0026	0.0025	0.0014	0.0014	7.735e-05	0.0020	0.0003	0.0035	0.0026	0.0027	0.0024	0.0021	0.0021	0.0021	0.0021	0.0031	0.0019	0.0019	0.0024	0.0023	0.0015	0	0.0022	0.0003	0.0031	0.0002	0.0034	0.0027	0.0024	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/3:33,0,0,46:79:99:1756,1858,3226,1858,3226,3226,0,1368,1368,1230	8	0	10	0
chr15	89333605	89333605	-	TGCTGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCAGCA:p.Q55_P56insQQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/3:33,0,0,46:79:99:1756,1858,3226,1858,3226,3226,0,1368,1368,1230	8	0	10	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	.	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	31349.59	49	chr15	89776903	.	AGGGCAGGGGCAG	*,A	31349.59	.	AC=14,28;AF=0.333,0.667;AN=42;BaseQRankSum=0.794;DP=1383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=14,28;MLEAF=0.333,0.667;MQ=60.00;MQRankSum=0.00;QD=27.92;ReadPosRankSum=0.595;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,11,34:45:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1869,1330,1331,470,0,382:89776889	0	0	0	0
chr15	89805989	89805989	T	G	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon1:c.A595C:p.M199L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.024	B	0.027	B	0.333	N	1.000	N	1.125	L	4.31	T	-0.921	T	0.009	T	0.103	0.637	7.421	1.22	0.663	-0.482	4.237	0.040	0.00416045465606	.	.	0.0002	0.0002	0.0006	0.0003	0	7.724e-05	0.0012	0.0003	0.0001358	21	154602	rs763429233	7.546e-05	7.456e-05	6.449e-05	8.664e-05	0.0014	6.391e-05	5.944e-05	0.0007	0.0005	0.0003	0.0003	0	0.0004	0	0.0014	2.364e-05	0.0002	0.0003	5.914e-05	5.91e-05	7.707e-05	4.036e-05	0.0004	3.078e-05	2.21e-05	7.279e-05	3.025e-05	2.414e-05	0	0.0001	0	0.0002	0	0	4.411e-05	0	0.0004	0.542	0.06757	T	0.482	0.11829	T	0.024	0.19075	B	0.027	0.21085	B	0.332553	0.04139	N	1.329750	0.999994	0.08975	N	0.925	0.23481	L	4.31	0.02412	T	-0.95	0.25332	N	0.224	0.25130	-0.9207	0.45458	T	0.009	0.03359	T	10	0.025929272	0.00773	T	0.00416	0.09995	T	0.040	0.10527	0.532	0.64002	0.241078983079	0.23725	0.5070787799293122	0.50629	0.24251338115	0.26756	0.233498036861	0.02237	T	0.164836	0.51044	T	-0.555363	0.00271	T	-0.715507	0.05015	T	0.00435399186391345	0.00046	T	0.710329	0.32115	T	0.33304495	0.55718	0.14648868	0.34703	0.33304495	0.55718	0.14648868	0.34702	-2.86	0.08749	T	.	.	0.082	0.08657	B	.	.	0.831144	0.12026	8.582	0.72552291913392308	0.10013	0.23769	0.22182	N	AEFDGBHCI	0.378332	0.46177	N	-0.856138036722248	0.11900	0.5768946	-0.785800287709387	0.14843	0.7776744	0.999990190296618	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	4.8	1.22	0.20300	-0.255000	0.08789	-0.350000	0.09751	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.507000	0.29175	0.163:0.154:0.0:0.6831	4.237	0.10081	448	0.79501	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2807.98	33	chr15	89805989	.	T	G	2807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=924;ExcessHet=0.0000;FS=3.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-8.800e-01;SOR=1.000	GT:AD:DP:GQ:PL	0/1:99,114:213:99:2822,0,2288	20	0	1	0
chr15	90486117	90486117	A	T	exonic	IQGAP1	.	nonsynonymous SNV	IQGAP1:NM_003870:exon31:c.A4009T:p.I1337F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.013	B	0.004	B	0.000	D	1.000	D	2.045	M	0.8	T	-0.958	T	0.144	T	0.473	2.825	15.41	5.46	2.199	4.912	14.655	0.107	0.0100788336757	.	.	1.787e-05	0	0	0	0	1.619e-05	0	6.769e-05	1.29e-05	2	154602	rs753502137	1.711e-05	1.71e-05	6.81e-06	2.752e-05	0.0002	1.175e-05	9.93e-06	0.0001	0.0001	0	0	0	0	0	0	4.499e-06	1.657e-05	0.0002	1.971e-05	1.97e-05	0	4.036e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.002	0.72154	D	0.102	0.38742	T	0.013	0.16609	B	0.004	0.10090	B	0.000004	0.62929	D	0.063210	1	0.81001	D	2.05	0.56469	M	0.8	0.48769	T	-3.4	0.67014	D	0.633	0.64648	-0.9579	0.39571	T	0.144	0.46714	T	10	0.19490442	0.35321	T	0.010079	0.26191	T	0.107	0.30369	0.27	0.21893	0.496871534903	0.49321	0.6231617562508722	0.62249	0.416704924189	0.42310	0.54656213522	0.45372	T	0.660897	0.89822	D	-0.218713	0.18167	T	-0.292263	0.45538	T	0.57023811340332	0.35244	D	0.964104	0.86689	D	0.70841676	0.78521	0.62501335	0.78144	0.70841676	0.78522	0.62501335	0.78145	-9.034	0.67916	D	.	.	0.249	0.59722	B	.;.	.;.	4.323994	0.66207	24.9	0.96180866759185324	0.28960	0.94124	0.60185	D	AEFBI	0.591105	0.58733	D	0.0597406616166538	0.44592	2.73041	0.220629220630212	0.50992	3.285826	0.961580495923667	0.28564	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	4.903000	0.62964	9.234000	0.79377	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.655	0.68434	912	0.21483	Ras GTPase-activating domain;Ras GTPase-activating domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2085.98	34	chr15	90486117	.	A	T	2085.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=811;ExcessHet=0.0000;FS=1.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.43;ReadPosRankSum=-5.990e-01;SOR=0.570	GT:AD:DP:GQ:PL	0/1:53,74:127:99:2100,0,1309	20	0	1	0
chr15	99712514	99712519	CAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1033_1038del:p.Q351_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:33,38,0,0:73:99:1433,0,1211,1529,1338,2918,1529,1338,2918,2918	8	2	8	0
chr15	99712505	99712519	CAGCAGCAGCAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1038del:p.Q348_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	3207195	MEF2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0163	0.0020	0.0084	0	0.0006	0.0040	0.0093	0.0378	0.0001537	4	26028	rs748617871	0.0057	0.0054	0.0048	0.0066	0.0328	0.0056	0.0056	0.0318	0.0313	0.0011	0.0209	0.0009	0.0019	0.0015	0.0269	0.0036	0.0059	0.0328	0.0056	0.0056	0.0050	0.0061	0.0227	0.0052	0.0051	0.0192	0.0179	0.0014	0	0.0195	0.0003	0.0010	0.0019	0.0510	0.0048	0.0072	0.0227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:33,38,0,0:73:99:1433,0,1211,1529,1338,2918,1529,1338,2918,2918	8	2	8	0
chr15	99712517	99712519	CAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1036_1038del:p.Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:33,38,0,0:73:99:1433,0,1211,1529,1338,2918,1529,1338,2918,2918	8	2	8	0
chr15	100116895	100116895	G	A	exonic	ADAMTS17	.	nonsynonymous SNV	ADAMTS17:NM_139057:exon13:c.C1840T:p.R614W,	Weill-Marchesani-like syndrome, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	340001	not_provided|Weill-Marchesani_4_syndrome,_recessive	MedGen:C3661900|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195,Orphanet:363992	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.711	P	0.000	D	1.000	D	1.1	L	0.27	T	-0.661	T	0.218	T	0.711	4.406	23.4	5.18	2.419	2.299	14.527	0.244	.	.	0.00279553	0.0016	0	8.652e-05	0	0	0	0	0.0117	0.0013713	212	154602	rs200745301	0.0007	0.0007	0.0004	0.0010	0.0114	0.0007	0.0007	0.0108	0.0105	5.974e-05	2.236e-05	0	0.0002	0	0.0003	1.799e-05	0.0009	0.0114	0.0004	0.0004	0.0003	0.0006	0.0128	0.0004	0.0003	0.0103	0.0094	4.811e-05	0	6.534e-05	0	0	0	0	1.47e-05	0.0005	0.0128	0.188	0.21304	T	0.027	0.55341	D	0.997	0.70673	D	0.543	0.48966	P	0.000202	0.47681	D	0.086238	0.999992	0.58761	D	2.175	0.60977	M	0.27	0.59176	T	-3.13	0.63901	D	0.656	0.66615	-0.6615	0.62210	T	0.218	0.58098	T	10	0.010222256	0.00228	T	.	.	.	0.244	0.55061	0.568	0.69034	0.898038114599	0.89702	0.6289319711723774	0.62826	0.420963420729	0.42612	0.537321329117	0.44067	T	0.140457	0.47501	T	-0.257784	0.13161	T	-0.133671	0.60662	T	0.129016726531123	0.15290	T	0.934107	0.75346	D	0.15099546	0.34347	0.14421499	0.34247	0.15099546	0.34347	0.14421499	0.34246	-9.989	0.73846	D	.	.	0.103	0.18580	B	.	.	4.391940	0.67793	25.1	0.99927502285514014	0.99163	0.87495	0.47053	D	AEFDBI	0.797408	0.72426	D	0.440602389736644	0.63673	4.605529	0.477967459256511	0.66531	4.964448	0.999999998062117	0.74766	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.18	5.18	0.71140	2.368000	0.43875	4.412000	0.43285	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:0.8441:0.1559	14.527	0.67478	821	0.40814	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1301.98	33	chr15	100116895	.	G	A	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.370e-01;DP=788;ExcessHet=0.0000;FS=1.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=-1.322e+00;SOR=0.569	GT:AD:DP:GQ:PL	0/1:42,55:97:99:1316,0,926	20	0	1	0
chr16	667566	667566	G	A	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon41:c.G5224A:p.V1742M,	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.967	D	0.775	P	0.000	U	1.000	D	1.78	L	3.18	T	-0.477	T	0.329	T	0.564	1.904	12.32	2.93	0.497	1.319	9.728	0.158	.	.	0.00279553	0.0020	0	0.0002	0.0001	0	1.548e-05	0.0012	0.0143	0.0016753	259	154602	rs201597639	0.0008	0.0008	0.0004	0.0012	0.0133	0.0008	0.0008	0.0127	0.0124	2.987e-05	2.237e-05	0	2.519e-05	0	0.0003	4.497e-06	0.0008	0.0133	0.0004	0.0004	0.0003	0.0005	0.0120	0.0003	0.0003	0.0095	0.0086	0	0	0	0	0.0002	0	0	0	0	0.0120	0.009	0.57480	D	0.041	0.50514	D	0.93	0.56408	P	0.527	0.57058	P	0.000470	0.44119	U	0.093576	1	0.81001	D	2.19	0.61577	M	3.18	0.69777	T	-1.78	0.46673	N	0.242	0.32812	-0.4775	0.69458	T	0.329	0.69716	T	10	0.011935383	0.00259	T	.	.	.	0.158	0.41098	0.52	0.62217	0.316788114976	0.31282	0.271521310689603	0.27065	0.546399409518	0.51636	0.475173652172	0.35393	T	0.040457	0.25533	T	-0.290785	0.09557	T	-0.178793	0.56635	T	0.0647677809351308	0.07897	T	0.819918	0.48860	T	0.108039156	0.25547	0.14967738	0.35332	0.108039156	0.25547	0.14967738	0.35331	-5.391	0.40833	T	.	.	0.199	0.50073	B	.;.;.;.	.;.;.;.	3.443168	0.47909	22.5	0.99023980190399763	0.50634	0.51117	0.28821	D	AEFGBCI	0.115350	0.22684	N	-0.0311280158558632	0.40451	2.40233	-0.0510547452822444	0.37444	2.192505	0.999999475245188	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.26897	0.05253	2	0.592323	0.36904	0	.	.	4.9	2.93	0.33092	1.713000	0.37570	5.462000	0.48674	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.171:0.0:0.829:0.0	9.728	0.39508	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	0.02381	901.98	50	chr16	667566	.	G	A	901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.240e+00;DP=1095;ExcessHet=0.0000;FS=4.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.363;SOR=0.299	GT:AD:DP:GQ:PL	0/1:32,36:68:99:916,0,1003	20	0	1	0
chr16	1432705	1432707	GAG	-	exonic	PERCC1	.	nonframeshift deletion	PERCC1:NM_001365310:exon2:c.112_114del:p.E47del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	1/1:0,21,0,0:21:63:917,63,0,917,63,917,917,63,917,917	12	1	6	0
chr16	1432707	1432707	-	GAG	exonic	PERCC1	.	nonframeshift insertion	PERCC1:NM_001365310:exon2:c.114_115insGAG:p.E47_G48insE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	1/1:0,21,0,0:21:63:917,63,0,917,63,917,917,63,917,917	12	1	6	0
chr16	1502979	1502979	C	T	exonic	TELO2	.	nonsynonymous SNV	TELO2:NM_001351846:exon15:c.C1819T:p.R607W	You-Hoover-Fong syndrome, Autosomal recessive	.	403	1115	4	0	0	4	0.00179051	.	.	739971	TELO2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.997	D	0.000	D	1.000	D	2.045	M	2.46	T	-1.078	T	0.103	T	0.814	4.298	22.5	4.07	2.391	1.052	13.918	0.238	0.029947810358	0.0007	0.000998403	0.0011	0.0002	8.649e-05	0	0.0027	0.0012	0.0022	0.0021	0.0010673	165	154602	rs146401595	0.0013	0.0013	0.0013	0.0014	0.0023	0.0013	0.0013	0.0020	0.0019	0.0001	0	0.0004	5.038e-05	0.0032	0.0009	0.0013	0.0016	0.0023	0.0010	0.0010	0.0010	0.0011	0.0025	0.0009	0.0008	0.0014	0.0012	0.0002	0.0022	0.0001	0	0	0.0026	0	0.0015	0	0.0025	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.053478	1	0.81001	D	3.02	0.86243	M	2.46	0.14907	T	-4.86	0.81187	D	0.787	0.78356	-1.0784	0.07661	T	0.103	0.37944	T	10	0.08461255	0.14200	T	0.029948	0.52359	D	0.238	0.54217	.	.	0.606390081608	0.60323	0.6570984188015603	0.65646	0.225725488836	0.25122	0.634698808193	0.57811	T	0.636078	0.88781	D	-0.247201	0.14443	T	-0.134031	0.60630	T	0.127488767257925	0.15148	T	0.962504	0.85970	D	0.84424126	0.86913	0.79469514	0.87938	0.8582114	0.87952	0.77855957	0.86942	-9.907	0.73353	D	0.9130759498998986	0.96042	0.138	0.30211	B	.	.	5.212444	0.87464	29.2	0.99917721048885544	0.98518	0.71194	0.34909	D	AEFBCI	0.557762	0.56726	D	0.438528092761829	0.63556	4.591517	0.380964859572495	0.60390	4.226235	0.991143897808924	0.32388	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.09	4.07	0.46726	1.488000	0.35160	2.644000	0.33772	0.596000	0.33519	0.831000	0.30147	0.991000	0.31484	0.987000	0.62547	0.0:0.8464:0.1536:0.0	13.918	0.63419	774	0.48577	Telomere length regulation protein, conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2179.98	39	chr16	1502979	.	C	T	2179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-7.050e-01;SOR=0.729	GT:AD:DP:GQ:PL	0/1:93,88:181:99:2194,0,2193	20	0	1	0
chr16	1999881	1999881	G	0	exonic	ZNF598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	12579.4	40	chr16	1999881	.	G	GTCC,*	12579.4	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.849;DP=1110;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.7375;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=32.09;ReadPosRankSum=0.776;SOR=0.718	GT:AD:DP:GQ:PL	1/1:2,71,0:73:99:3083,149,0,3090,214,3154	15	3	2	0
chr16	2114921	2114921	G	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon11:c.C2102A:p.T701N	Polycystic kidney disease, adult type I, Autosomal dominant	YES	215	1282	23	2	0	27	0.0104207	.	.	919631	not_provided|Polycystic_kidney_disease,_adult_type|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.763	P	0.219	B	0.193	N	1.000	N	1.87	L	1.31	T	-1.051	T	0.078	T	0.076	0.319	5.729	3.09	1.181	1.806	9.643	0.052	0.119057797368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0055	0.0010	0.0014	0.0042	0.0012	0.0011	0.0036	0.0034	0.0002	0.0042	0.0022	0.0015	0.0007	0.0015	0.0010	0.0011	0.0035	6.57e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.095	0.31235	T	0.107	0.37730	T	0.514	0.43659	P	0.115	0.37734	B	0.192933	0.16798	N	0.604873	1	0.08975	N	2.35	0.67516	M	1.31	0.35405	T	-1.53	0.37178	N	0.226	0.32701	-1.0514	0.14009	T	0.078	0.31103	T	10	0.19567388	0.35429	T	0.119058	0.79926	D	0.052	0.14661	.	.	0.550246613503	0.54680	0.27213226263356766	0.27126	.	.	0.399860799313	0.25050	T	0.286815	0.65960	T	-0.263983	0.12437	T	-0.61697	0.11424	T	0.150881667384249	0.17173	T	0.688631	0.29780	T	0.065850526	0.14113	0.08088498	0.18334	0.065850526	0.14112	0.08088498	0.18334	-5.674	0.43461	T	0.33790161931626944	0.43577	0.105	0.19398	B	.;.	.;.	1.961136	0.24913	16.57	0.50966857304146163	0.04478	0.25707	0.22779	N	AEFBI	0.148006	0.27180	N	-0.571601178771383	0.19811	1.040	-0.661019807721852	0.17938	0.9561094	0.0203117780971335	0.13246	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.21	3.09	0.34677	1.444000	0.34679	6.196000	0.54830	-0.209000	0.08382	0.003000	0.16062	1.000000	0.68203	0.000000	0.00833	0.1485:0.13:0.7214:0.0	9.643	0.39015	650	0.62973	Polycystin cation channel;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	77.9	36	chr16	2114921	.	G	T	77.9	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.320e+00;DP=755;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0481;MLEAC=1;MLEAF=0.024;MQ=41.59;MQRankSum=-1.677e+00;QD=0.59;ReadPosRankSum=0.450;SOR=0.593	GT:AD:DP:GQ:PL	0/1:69,10:79:11:11,0,1653	19	0	2	0
chr16	2209409	2209409	G	A	exonic	BRICD5	.	nonsynonymous SNV	BRICD5:NM_182563:exon6:c.C640T:p.P214S,	.	.	419	1091	11	1	0	13	0.00592255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	.	.	1.18	T	-0.627	T	0.257	T	0.914	5.730	36	5.95	2.819	7.591	18.941	0.568	.	0.0025	0.00279553	0.0035	0.0006	0.0006	0	0.0023	0.0033	0.0089	0.0099	0.0033829	523	154602	rs111384111	0.0041	0.0041	0.0039	0.0044	0.0096	0.0040	0.0040	0.0091	0.0089	0.0007	0.0012	0.0045	2.519e-05	0.0025	0.0038	0.0041	0.0039	0.0096	0.0027	0.0027	0.0026	0.0028	0.0112	0.0025	0.0024	0.0088	0.0080	0.0006	0	0.0004	0.0032	0.0002	0.0040	0	0.0041	0.0014	0.0112	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	1.04	0.26193	L	1.18	0.57729	T	-7.67	0.95542	D	0.876	0.87373	-0.6273	0.63685	T	0.257	0.62766	T	9	0.012677997	0.00272	T	.	.	.	0.568	0.82403	.	.	0.514866526686	0.51127	0.7733543317739106	0.77285	0.00862090980284	0.00783	0.689933955669	0.65696	T	0.288565	0.66136	T	-0.00576028	0.50859	T	0.226911	0.84518	D	0.0502794755037764	0.05550	T	0.808919	0.74830	T	0.84051114	0.86644	0.79701805	0.88082	0.84051114	0.86646	0.79701805	0.88083	-1.997	0.03169	T	.	.	0.786	0.76654	P	.;.	.;.	4.669586	0.74619	26.2	0.99923942622440587	0.98917	0.92882	0.56778	D	AEFDBHCI	0.919356	0.88977	D	0.822762409053925	0.87508	9.242129	0.84262630711285	0.92578	11.50794	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.95	5.95	0.96415	9.541000	0.97178	11.725000	0.94886	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.941	0.92581	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	0.02381	1328.98	34	chr16	2209409	.	G	A	1328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.865;DP=814;ExcessHet=0.0000;FS=1.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-2.990e-01;SOR=0.516	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1343,0,1127	20	0	1	0
chr16	8768230	8768230	T	C	exonic	ABAT	.	nonsynonymous SNV	ABAT:NM_000663:exon10:c.T641C:p.M214T	GABA-transaminase deficiency, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	267762	ABAT-related_disorder|not_provided|not_specified|Gamma-aminobutyric_acid_transaminase_deficiency	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163,Orphanet:2066	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.004	B	0.000	D	1.000	D	-0.505	N	-1.93	D	-0.628	T	0.303	T	0.554	2.127	13.07	5.61	2.147	5.819	15.039	0.346	0.0339214080291	0.0025	0.000798722	0.0025	0.0002	0.0012	0	0.0036	0.0033	0.0011	0.0026	0.0024126	373	154602	rs149271402	0.0028	0.0028	0.0027	0.0028	0.0030	0.0027	0.0027	0.0029	0.0029	0.0002	0.0010	0.0024	0	0.0034	0	0.0030	0.0025	0.0029	0.0022	0.0022	0.0022	0.0022	0.0040	0.0020	0.0019	0.0036	0.0035	0.0003	0	0.0007	0.0017	0	0.0020	0	0.0040	0.0014	0.0017	0.294	0.17643	T	0.351	0.17425	T	0.0	0.02946	B	0.004	0.10090	B	0.000000	0.84330	D	0.035857	1	0.81001	D	-0.505	0.02602	N	-1.93	0.84842	D	-0.26	0.11185	N	0.671	0.67995	-0.6285	0.63635	T	0.303	0.67446	T	10	0.018425345	0.00401	T	0.033921	0.55318	D	0.346	0.66769	.	.	0.821998047426	0.82032	0.7791862409298115	0.77869	0.357549174264	0.37467	0.79688179493	0.81488	T	0.194128	0.54981	T	-0.258099	0.13123	T	-0.140767	0.60051	T	0.0205467228517916	0.00754	T	0.907909	0.67446	D	0.2595522	0.49009	0.24269977	0.49696	0.23683263	0.46539	0.23363076	0.48556	-4.144	0.25936	T	0.16937827270933029	0.21234	0.146	0.34361	B	.;.;.;.;.	.;.;.;.;.	2.823638	0.37201	20.4	0.9406614430045861	0.24204	0.96866	0.71365	D	AEFDBI	0.834723	0.75274	D	-0.216618132001535	0.32452	1.830297	0.0499134986049432	0.42067	2.538063	0.878253151285644	0.25562	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.61	5.61	0.85347	5.897000	0.69569	7.725000	0.67498	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.0:0.0:1.0	15.039	0.71441	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1171.98	33	chr16	8768230	.	T	C	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.850e-01;DP=796;ExcessHet=0.0000;FS=0.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=1.06;SOR=0.867	GT:AD:DP:GQ:PL	0/1:35,54:89:99:1186,0,730	20	0	1	0
chr16	11839820	11839820	G	C	exonic	RSL1D1	.	nonsynonymous SNV	RSL1D1:NM_015659:exon8:c.C1021G:p.P341A,	.	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.015	B	0.007	B	0.250	N	1.000	N	1.59	L	1.07	T	-1.064	T	0.072	T	0.108	-0.605	1.301	-3.36	-0.673	-1.031	1.815	0.005	.	.	0.00419329	0.0025	0	0.0002	0	0	0	0.0011	0.0180	0.0021539	333	154602	rs554764499	0.0010	0.0010	0.0006	0.0014	0.0158	0.0010	0.0009	0.0151	0.0148	5.974e-05	8.944e-05	0	2.519e-05	0	0.0003	5.396e-06	0.0014	0.0158	0.0006	0.0006	0.0002	0.0010	0.0174	0.0005	0.0004	0.0144	0.0133	2.41e-05	0	0	0	0	0	0	4.412e-05	0	0.0174	0.371	0.11514	T	0.954	0.02589	T	0.015	0.17086	B	0.007	0.12992	B	0.250463	0.03643	N	1.629600	1	0.08975	N	2.075	0.57047	M	1.07	0.39586	T	-0.79	0.21860	N	0.121	0.11197	-1.0637	0.10855	T	0.072	0.29259	T	10	0.0033268929	0.00057	T	.	.	.	0.005	0.00259	0.198	0.11110	0.1749357433	0.17121	0.030976413440386416	0.03046	0.0118755130886	0.01121	0.196710675955	0.00367	T	0.010575	0.09538	T	-0.620275	0.00110	T	-0.649479	0.08990	T	0.0207385994718345	0.00774	T	0.50225	0.16663	T	0.013594504	0.00064	0.020590248	0.00144	0.013594504	0.00063	0.020590248	0.00144	-4.104	0.25349	T	.	.	0.054	0.00321	B	.;.	.;.	-0.590032	0.01599	0.108	0.20312631768861769	0.00725	0.06752	0.12774	N	AEFDBCI	0.040433	0.06014	N	-1.25234053735281	0.04269	0.1923318	-1.37003373121431	0.03575	0.1670495	0.947811759875252	0.27771	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.17	-3.36	0.04606	-0.827000	0.04531	-0.137000	0.11557	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1186:0.3893:0.2131:0.279	1.815	0.02911	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	0.02381	2368.98	40	chr16	11839820	.	G	C	2368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.350e-01;DP=967;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=1.45;SOR=0.695	GT:AD:DP:GQ:PL	0/1:109,105:214:99:2383,0,2588	20	0	1	0
chr16	11915680	11915682	CCG	-	exonic	GSPT1	.	nonframeshift deletion	GSPT1:NM_001130006:exon1:c.39_41del:p.G16del	.	.	8	113	9	2	94	107	0.0543933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/2:9,0,17,0,0:26:99:620,647,1017,0,370,319,647,1017,370,1017,647,1017,370,1017,1017	7	0	1	0
chr16	11915682	11915682	-	CCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGG:p.G16_S17insG	.	.	296	676	315	99	136	649	0.275067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/2:9,0,17,0,0:26:99:620,647,1017,0,370,319,647,1017,370,1017,647,1017,370,1017,1017	7	0	1	0
chr16	11915682	11915682	-	CCGCCGCCGCCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGGCGGCGGCGG:p.G16_S17insGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/2:9,0,17,0,0:26:99:620,647,1017,0,370,319,647,1017,370,1017,647,1017,370,1017,1017	7	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	95489.43	192	chr16	11927475	.	G	A,*	95489.43	.	AC=30,4;AF=0.714,0.095;AN=42;BaseQRankSum=1.26;DP=4093;ExcessHet=0.0303;FS=0.000;InbreedingCoeff=0.3824;MLEAC=30,4;MLEAF=0.714,0.095;MQ=59.99;MQRankSum=0.00;QD=24.53;ReadPosRankSum=0.415;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,107,0:232:99:.:.:2529,0,2948,2903,3269,6172	2	11	4	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.275	M	1.91	T	-0.639	T	0.257	T	0.982	2.967	15.89	0.019	-0.196	0.232	11.520	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	4257.38	166	chr16	14582206	.	G	C	4257.38	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.582e+00;DP=3785;ExcessHet=43.6797;FS=424.104;InbreedingCoeff=-0.9074;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=1.10;SOR=14.488	GT:AD:DP:GQ:PL	0/1:119,39:176:17:17,0,2079	1	0	20	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1565.86	33	chr16	14667707	.	GCCCC	G	1565.86	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-5.750e-01;DP=1119;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=0.627;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,16:90:99:0|1:14667707_GCCCC_G:207,0,2886:14667707	13	0	8	0
chr16	14667711	14667711	-	GGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGG:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,16,0,0:90:99:0|1:14667707_GCCCC_G:207,0,2886,429,2934,3363,429,2934,3363,3363:14667707	12	0	6	1
chr16	14667711	14667711	-	GGGA	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGA:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,16,0,0:90:99:0|1:14667707_GCCCC_G:207,0,2886,429,2934,3363,429,2934,3363,3363:14667707	12	0	6	1
chr16	14667711	14667711	-	TGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insTGGG:p.I289Gfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,16,0,0:90:99:0|1:14667707_GCCCC_G:207,0,2886,429,2934,3363,429,2934,3363,3363:14667707	12	0	6	1
chr16	14726165	14726165	C	-	exonic	NPIPA2;NPIPA3	.	frameshift deletion	NPIPA3:NM_001277323:exon8:c.925delC:p.E310Sfs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.55e-05	4.21e-05	4.278e-05	6.649e-05	0.0001	3.317e-05	2.615e-05	5.062e-05	3.268e-05	0	7.842e-05	0	0	0	0	4.889e-05	7.419e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	441.48	8	chr16	14726164	.	TC	T,*	441.48	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-2.155e+00;DP=181;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4819;MLEAC=1,1;MLEAF=0.025,0.025;MQ=36.48;MQRankSum=1.76;QD=19.19;ReadPosRankSum=1.74;SOR=0.330	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,14,0:15:9:.:.:463,9,0,466,42,498	18	1	0	1
chr16	14726164	14726165	TC	0	exonic	NPIPA2;NPIPA3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	441.48	8	chr16	14726164	.	TC	T,*	441.48	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-2.155e+00;DP=181;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4819;MLEAC=1,1;MLEAF=0.025,0.025;MQ=36.48;MQRankSum=1.76;QD=19.19;ReadPosRankSum=1.74;SOR=0.330	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,14,0:15:9:.:.:463,9,0,466,42,498	18	1	0	1
chr16	14857610	14857610	A	G	exonic	NOMO1;NOMO3	.	nonsynonymous SNV	NOMO3:NM_001004067:exon11:c.A1175G:p.K392R	.	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.009	B	0.017	B	0.000	N	1.000	D	1.8	L	0.98	T	-1.054	T	0.092	T	0.429	1.870	12.21	3.13	1.408	8.558	9.651	0.154	0.00958868603189	0.0005	0.000599042	0.0007	9.61e-05	0	0.0001	0	0.0005	0.0011	0.0030	0.0005757	89	154602	rs142417260	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	2.988e-05	0.0002	0.0039	0	0	0.0016	0.0002	0.0007	0.0033	0.0003	0.0003	0.0004	0.0002	0.0023	0.0002	0.0002	0.0013	0.0010	2.42e-05	0	0.0003	0.0040	0	0	0	0.0003	0	0.0023	0.192	0.20988	T	0.387	0.28391	T	0.009	0.15093	B	0.017	0.18140	B	0.000006	0.62929	N	0.062022	0.999999	0.58761	D	2.075	0.57047	M	0.98	0.42122	T	-1.68	0.40082	N	0.801	0.81063	-1.0542	0.13251	T	0.092	0.35119	T	10	0.031755358	0.01314	T	0.009589	0.25085	T	0.154	0.40340	.	.	0.286848849266	0.28300	0.3623040874110353	0.36144	.	.	0.785759091377	0.79798	T	0.014025	0.20247	T	-0.392325	0.02598	T	-0.339061	0.40450	T	0.101031753741958	0.12470	T	0.963604	0.86445	D	0.18932873	0.40469	0.23156396	0.48291	0.18932873	0.40469	0.23156396	0.48290	-4.423	0.29867	T	.	.	0.119	0.24599	B	.;.;.	.;.;.	3.917058	0.57157	23.8	0.99300614265891585	0.58613	0.96275	0.68347	D	AEDI	0.768023	0.70371	D	-0.147821035839483	0.35328	2.027768	-0.0478531615313895	0.37583	2.202526	0.709054703452409	0.22796	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.13	3.13	0.35090	8.637000	0.90778	11.072000	0.85602	0.270000	0.18506	1.000000	0.71638	1.000000	0.68203	0.406000	0.26916	1.0:0.0:0.0:0.0	9.651	0.39064	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5396.98	33	chr16	14857610	.	A	G	5396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.880e-01;DP=1225;ExcessHet=0.0000;FS=0.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.81;MQRankSum=-6.390e-01;QD=11.51;ReadPosRankSum=-9.210e-01;SOR=0.742	GT:AD:DP:GQ:PL	0/1:242,227:469:99:5411,0,6154	20	0	1	0
chr16	16169807	16169807	G	A	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon22:c.C2834T:p.P945L	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.482	P	0.105	B	0.000	U	1.000	D	0.525	N	-2.54	D	-0.368	T	0.404	T	0.412	-0.164	3.200	5.0	2.328	3.528	11.043	0.372	0.158136685256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375496546	9.164e-06	8.893e-06	4.186e-06	1.425e-05	0.0001	5.11e-06	3.94e-06	8.466e-05	6.605e-05	0	0	0	0	0	0	9.171e-07	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.655	0.04772	T	0.656	0.06598	T	0.482	0.36779	P	0.105	0.31087	B	0.000169	0.48594	U	0.000000	0.999999	0.58761	D	0.635	0.15989	N	-2.54	0.89496	D	-1.64	0.39314	N	0.151	0.15469	-0.3679	0.73025	T	0.404	0.75444	T	10	0.5148872	0.62308	D	0.158137	0.83859	D	0.372	0.69102	0.432	0.48171	0.893272209058	0.89221	0.27800147752182963	0.27713	0.0691614642767	0.07740	0.382886499166	0.22665	T	0.078854	0.35991	T	-0.0880776	0.38394	T	-0.138592	0.60240	T	0.214438002722453	0.21183	T	0.780822	0.41560	T	0.10638555	0.25155	0.15608595	0.36559	0.10638555	0.25155	0.15608595	0.36558	-2.998	0.10159	T	0.1580603324661146	0.19127	0.101	0.17360	B	.	.	3.010522	0.40256	21.1	0.2088136668546127	0.00771	0.95660	0.65617	D	AEFDBI	0.575324	0.57776	D	-0.345357510280062	0.27443	1.505704	-0.281041043567088	0.28723	1.603691	0.997018830648839	0.35200	0.428477	0.06694	0	0.547309	0.14657	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	5.0	5.0	0.66209	3.034000	0.49441	8.476000	0.77285	0.650000	0.52971	0.997000	0.40164	1.000000	0.68203	0.350000	0.25659	0.0854:0.0:0.9146:0.0	11.043	0.47059	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1579.98	56	chr16	16169807	.	G	A	1579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.393;DP=830;ExcessHet=0.0000;FS=1.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.34;ReadPosRankSum=-3.380e-01;SOR=0.504	GT:AD:DP:GQ:PL	0/1:43,60:103:99:1594,0,1055	20	0	1	0
chr16	21404236	21404236	C	-	splicing	NPIPB3	NM_130464:exon10:c.1691+1G>-;NM_130464:exon11:c.1692-1G>-	.	.	.	.	1479	15	0	28	0	56	0.651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	.	0.0004528	70	154602	rs767458164	0.3333	0.0001	1.0000	0	0.5000	0.0592	0.0248	0.0888	0.0371	.	0.5000	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	380.23	3	chr16	21404235	.	GC	G	380.23	.	AC=6;AF=1.00;AN=6;DP=44;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3927;MLEAC=16;MLEAF=1.00;MQ=25.55;QD=32.05;SOR=3.056	GT:AD:DP:GQ:PL	1/1:0,2:2:6:75,6,0	0	3	0	18
chr16	22123155	22123155	A	G	exonic	VWA3A	.	nonsynonymous SNV	VWA3A:NM_173615:exon15:c.A1427G:p.Y476C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.957	D	0.001	D	1.000	D	2.175	M	2.61	T	-0.965	T	0.134	T	0.682	3.148	16.53	3.03	0.306	1.318	2.564	0.229	0.0141201948369	.	0.000199681	0.0003	0	0.0003	0	0	0.0005	0	0.0003	0.0001617	25	154602	rs200794387	6.135e-05	6.293e-05	5.476e-05	6.803e-05	0.0003	5.067e-05	4.708e-05	0.0002	0.0001	3.001e-05	4.638e-05	0	0	7.569e-05	0	5.061e-05	8.328e-05	0.0003	5.258e-05	5.25e-05	7.715e-05	2.688e-05	0.0001	2.558e-05	1.83e-05	3.763e-05	2.576e-05	0	0	0.0001	0	0	0	0	8.823e-05	0	0	0.004	0.65419	D	0.01	0.70582	D	0.998	0.73220	D	0.885	0.62825	P	0.000533	0.43581	D	0.156428	0.553614	0.81001	D	2.43	0.70455	M	2.09	0.20122	T	-5.59	0.89093	D	0.437	0.47580	-0.9646	0.38290	T	0.134	0.44700	T	10	0.13650748	0.25972	T	0.01412	0.34021	T	0.229	0.52916	0.457	0.52265	0.289474373501	0.28556	0.49811349221783696	0.49732	0.0578632915094	0.06410	0.452298015356	0.32258	T	0.050531	0.28620	T	-0.202776	0.20405	T	-0.25975	0.48849	T	0.24345426261425	0.22577	T	0.731327	0.34690	T	0.23634587	0.46483	0.27482796	0.53414	0.23634587	0.46483	0.27482796	0.53413	-5.538	0.42222	T	.	.	0.099	0.28145	B	.;.	.;.	4.993154	0.82791	27.9	0.99748719907651839	0.84077	0.48557	0.28234	N	AEFBHCI	0.116522	0.22865	N	0.3556075116416	0.59037	4.07989	0.288817051908117	0.54887	3.652373	0.195121336812675	0.18049	0.525926	0.21836	0	0.615948	0.52940	0	0.600433	0.31921	0	0.584449	0.35598	0	.	.	5.37	3.03	0.34070	1.312000	0.33179	0.623000	0.20150	0.756000	0.94297	0.979000	0.35152	0.003000	0.18671	0.992000	0.67800	0.6114:0.1521:0.081:0.1555	2.564	0.04488	457	0.78953	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	990.98	36	chr16	22123155	.	A	G	990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=776;ExcessHet=0.0000;FS=3.093;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=-8.520e-01;SOR=1.136	GT:AD:DP:GQ:PL	0/1:40,37:77:99:1005,0,1021	20	0	1	0
chr16	22305171	22305171	G	T	exonic	POLR3E	.	nonsynonymous SNV	POLR3E:NM_001258033:exon3:c.G52T:p.A18S	.	.	435	1083	4	0	0	4	0.00184332	.	.	2728180	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.984	D	0.938	D	0.000	D	1.000	D	0.35	N	1.25	T	-0.874	T	0.129	T	0.704	2.686	14.94	5.51	2.590	7.683	18.196	0.355	0.0233327504264	.	.	0.0001	0	8.637e-05	0	0	5.993e-05	0	0.0007	0.00011	17	154602	rs777971329	6.844e-05	6.84e-05	3.133e-05	0.0001	0.0010	5.716e-05	5.328e-05	0.0008	0.0007	0	0	0	0	0	0.0009	7.199e-06	4.97e-05	0.0010	1.972e-05	1.97e-05	0	4.039e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.836	0.02847	T	0.493	0.11515	T	0.984	0.60733	D	0.938	0.67350	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.025	0.25523	L	1.25	0.36512	T	1.08	0.01787	N	0.593	0.62273	-0.8737	0.50249	T	0.129	0.43747	T	10	0.34617624	0.51578	T	0.023333	0.46285	T	0.355	0.67600	0.871	0.96372	0.615425489776	0.61232	0.3715541876572807	0.37069	0.4440252109	0.44323	0.807734370232	0.83145	D	0.03476	0.23450	T	-0.237232	0.15703	T	-0.169892	0.57453	T	0.122856988850592	0.14706	T	.	.	.	0.13089438	0.30528	0.1617031	0.37599	0.13089438	0.30528	0.1617031	0.37598	-4.028	0.24221	T	.	.	0.114	0.29995	B	.;.;.;.;.	.;.;.;.;.	4.287146	0.65350	24.8	0.99322180179539366	0.59431	0.97297	0.73868	D	AEFDBCI	0.914515	0.87799	D	0.613497604169092	0.74028	6.063516	0.675020802043882	0.80484	7.30963	0.999999995327072	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	8.019000	0.89128	11.783000	0.96163	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.196	0.89754	466	0.78352	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1125.98	34	chr16	22305171	.	G	T	1125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.061;DP=811;ExcessHet=0.0000;FS=1.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=-2.010e-01;SOR=0.866	GT:AD:DP:GQ:PL	0/1:74,51:125:99:1140,0,1805	20	0	1	0
chr16	22534048	22534059	ACCCTCAGCTCC	-	exonic	NPIPB5	.	nonframeshift deletion	NPIPB5:NM_001135865:exon7:c.1065_1076del:p.P359_A362del,	.	.	501	975	46	0	0	46	0.0230461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0	0	0	0	0.0045	0	0	3.84e-05	1	26028	rs761773343	0.0030	0.0046	0.0029	0.0032	0.0158	0.0030	0.0029	0.0127	0.0115	0.0006	0.0019	0.0144	0.0002	0.0051	0.0158	0.0024	0.0037	0.0087	0.0051	0.0060	0.0051	0.0052	0.0165	0.0048	0.0046	0.0130	0.0117	0.0009	0	0.0049	0.0230	0	0.0040	0.0099	0.0068	0.0072	0.0165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5355.64	40	chr16	22534047	.	TACCCTCAGCTCC	T	5355.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.67;DP=2203;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=35.28;MQRankSum=-2.815e+00;QD=3.99;ReadPosRankSum=0.849;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:340,65:405:99:.:.:1660,0,13912	18	0	3	0
chr16	28063189	28063189	T	C	exonic	GSG1L	.	nonsynonymous SNV	GSG1L:NM_001109763:exon1:c.A236G:p.N79S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.002	B	0.001	B	.	.	1.000	D	0	N	1.58	T	-1.004	T	0.026	T	0.019	0.089	4.481	-1.29	-0.410	0.439	2.235	0.035	.	.	0.00379393	0.0116	0	0.0217	0	.	0	0	0.0164	0.0009638	149	154602	rs562368259	0.0006	0.0007	0.0004	0.0009	0.0161	0.0006	0.0006	0.0151	0.0147	0	0	0	4.119e-05	0	0.0009	1.561e-05	0.0010	0.0161	0.0006	0.0006	0.0003	0.0009	0.0187	0.0005	0.0005	0.0156	0.0144	0	0	0	0	0.0002	0	0	1.48e-05	0	0.0187	0.708	0.04643	T	0.681	0.06325	T	0.0	0.09854	B	0.0	0.04355	B	.	.	.	.	1	0.81001	D	-0.345	0.03330	N	1.57	0.29342	T	-0.19	0.09965	N	0.051	0.04072	-1.0044	0.28636	T	0.026	0.10954	T	9	0.0043841302	0.00089	T	.	.	.	0.035	0.08770	0.384	0.40298	0.161926535498	0.15789	0.12197277890634466	0.12124	0.362311078198	0.37892	0.833653986454	0.87122	D	0.003228	0.02636	T	-0.724302	0.00026	T	-0.799561	0.01914	T	0.00849226843114254	0.00103	T	0.509249	0.16760	T	0.032950457	0.03418	0.05373024	0.09108	0.032950457	0.03417	0.05373024	0.09107	-0.011	0.00353	T	.	.	0.059	0.01387	B	.;.	.;.	1.231470	0.16264	12.43	0.68327704696393476	0.08624	0.23819	0.22198	N	AEFDBIJ	0.067952	0.13382	N	-0.899575166564681	0.10852	0.5206854	-0.820737209547006	0.13994	0.7288873	0.999634580598395	0.41205	0.455138	0.09556	0	0.578056	0.33634	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	1.46	-1.29	0.08805	-0.041000	0.12036	0.850000	0.22129	0.455000	0.21489	0.822000	0.30018	0.999000	0.35428	0.994000	0.71098	0.0:0.2224:0.3177:0.4599	2.235	0.03761	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	851.98	44	chr16	28063189	.	T	C	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.193;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=0.072;SOR=0.758	GT:AD:DP:GQ:PL	0/1:52,36:88:99:866,0,1439	20	0	1	0
chr16	28317425	28317425	C	T	exonic	SBK1	.	nonsynonymous SNV	SBK1:NM_001024401:exon2:c.C34T:p.R12C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.83	P	0.23	B	0.117	N	0.988	D	0.55	N	-0.24	T	-0.724	T	0.168	T	0.396	4.737	26.4	5.05	2.331	3.491	15.898	0.112	0.0463721149034	.	0.000199681	5.066e-05	0.0001	8.724e-05	0	0	0	0.0011	0.0002	4.53e-05	7	154602	rs200833665	5.131e-05	5.13e-05	2.859e-05	7.426e-05	0.0007	4.192e-05	3.824e-05	0.0006	0.0005	2.987e-05	0	0	0	0	0	8.094e-06	4.968e-05	0.0007	1.969e-05	1.968e-05	1.285e-05	2.685e-05	7.215e-05	5.24e-06	2.45e-06	1.913e-05	1.03e-05	7.215e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.003	0.76473	D	0.83	0.46087	P	0.23	0.38212	B	0.117252	0.19160	N	0.531839	0.987717	0.40637	D	0.805	0.20218	L	-0.24	0.66834	T	-0.59	0.17624	N	0.427	0.46649	-0.7236	0.59284	T	0.168	0.50810	T	10	0.15608975	0.29404	T	0.046372	0.62428	D	0.112	0.31546	.	.	0.752771577926	0.75053	0.3644028206053124	0.36354	.	.	0.33933532238	0.16338	T	0.031346	0.21997	T	-0.257827	0.13156	T	-0.25175	0.49643	T	0.152702834391054	0.17317	T	0.846715	0.52677	T	0.12599371	0.29523	0.07287172	0.15770	0.12599371	0.29523	0.07287172	0.15770	-4.327	0.28554	T	.	.	0.119	0.24363	B	.	.	5.186382	0.86974	29.1	0.99940344071497345	0.99767	0.89556	0.50095	D	AEFDGBHCI	0.678004	0.64251	D	0.221898962546293	0.52263	3.401416	0.32626138936141	0.57088	3.873431	0.99999997128004	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	5.05	5.05	0.67566	3.646000	0.54137	7.619000	0.62229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	15.898	0.79131	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1209.98	33	chr16	28317425	.	C	T	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.935;DP=796;ExcessHet=0.0000;FS=3.069;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=1.76;SOR=0.427	GT:AD:DP:GQ:PL	0/1:39,45:84:99:1224,0,991	20	0	1	0
chr16	32253357	32253357	C	T	exonic	TP53TG3D	.	nonsynonymous SNV	TP53TG3D:NM_001243722:exon1:c.C4T:p.R2C,	.	.	955	560	6	1	0	8	0.0070922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019805203702	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs1279462442	0.0003	0.0012	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0	0.0004	0.0004	0	0.0002	0	0.0004	0.0004	4.237e-05	0.0048	0.0053	0.0050	0.0047	0.0092	0.0043	0.0041	0.0059	0.0056	0.0010	0	0.0050	0.0089	0	0.0085	0	0.0068	0.0015	0.0092	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.34	0.34841	T	-7.9	0.96191	D	0.096	0.08786	.	.	.	.	.	.	.	0.009218931	0.00208	T	0.019805	0.42265	T	.	.	.	.	.	.	0.0012807888312944445	0.00118	3.07987304828	0.99351	0.500791847706	0.38938	T	.	.	.	-0.585598	0.00178	T	-0.595023	0.13233	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.163066	0.27562	17.50	0.98037501909506441	0.37758	0.00399	0.01994	N	AEFI	0.045997	0.07588	N	.	.	.	.	.	.	3.09984349074482E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.834000	0.04498	-11.975000	0.00560	-0.745000	0.03636	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	50.0	3	chr16	32253357	.	C	T	50.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.638e+00;DP=94;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1000;MLEAC=1;MLEAF=0.026;MQ=28.61;MQRankSum=0.136;QD=5.00;ReadPosRankSum=0.319;SOR=0.223	GT:AD:DP:GQ:PL	0/1:7,3:10:62:62,0,189	18	0	1	2
chr16	49638044	49638044	C	T	exonic	ZNF423	.	nonsynonymous SNV	ZNF423:NM_001330533:exon2:c.G757A:p.A253T	Joubert syndrome 19, Autosomal recessive, Autosomal dominant;Nephronophthisis 14, Autosomal recessive, Autosomal dominant	.	8	1512	2	0	0	2	0.000660939	.	.	194986	not_provided|Nephronophthisis_14	MedGen:C3661900|MONDO:MONDO:0013916,MedGen:C3539071,OMIM:614844,Orphanet:2318	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.366	B	0.023	B	0.000	D	0.998	D	1.405	L	3.12	T	-1.012	T	0.021	T	0.391	0.873	8.542	5.0	2.331	3.902	18.307	0.146	0.0147381178976	0.0002	.	0.0002	0	0.0005	0.0001	0	0.0002	0.0011	0.0002	0.000194	30	154602	rs199760788	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0006	0.0005	5.974e-05	0.0008	3.828e-05	0.0001	3.754e-05	0.0007	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0005	7.581e-05	6.285e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0.0001	0.0005	0.0002	0.717	0.03961	T	0.578	0.08565	T	0.366	0.34016	B	0.023	0.19966	B	0.000000	0.84330	D	0.000000	0.99809	0.44502	D	1.335	0.33326	L	3.08	0.08460	T	-0.58	0.21860	N	0.506	0.53796	-1.0119	0.26322	T	0.021	0.09009	T	9	0.07125342	0.10477	T	0.014738	0.35052	T	0.146	0.38789	.	.	0.043077524339	0.03247	0.3161345323203838	0.31526	0.415926434887	0.42235	0.73397731781	0.72088	T	0.072659	0.34509	T	-0.414979	0.01843	T	-0.471954	0.25307	T	0.0220488951132194	0.00915	T	0.888211	0.61727	D	0.12816192	0.29971	0.1585076	0.37011	0.12816192	0.29971	0.1585076	0.37011	-3.909	0.22828	T	0.04308717143489935	0.00470	0.119	0.46308	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.573064	0.50333	22.9	0.98466967463542276	0.41814	0.86718	0.46059	D	AEFBCI	0.513510	0.54127	D	0.0509508665157068	0.44186	2.697298	0.180211457747416	0.48762	3.087969	0.999999995872546	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.528226	0.09195	0	.	.	5.0	5.0	0.66209	3.973000	0.56552	4.088000	0.41786	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.951000	0.49849	0.0:1.0:0.0:0.0	18.307	0.90126	862	0.33134	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2119.98	83	chr16	49638044	.	C	T	2119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.491e+00;DP=1831;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=0.907;SOR=0.602	GT:AD:DP:GQ:PL	0/1:56,79:135:99:2134,0,1527	20	0	1	0
chr16	50710792	50710792	C	G	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.C800G:p.T267S	Blau syndrome, Autosomal dominant	.	1	1503	17	1	0	19	0.00628099	.	.	103775	not_provided|Autoinflammatory_syndrome|Blau_syndrome|Regional_enteritis|Inflammatory_bowel_disease_1	MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.999	D	2.615	M	0.01	T	-0.072	T	0.441	T	0.487	2.658	14.85	4.59	2.616	3.090	12.683	0.453	.	7.7e-05	0.000599042	0.0016	0	0	0	0.0159	0.0010	0.0034	0.0015	0.0012936	200	154602	rs104895425	0.0009	0.0009	0.0008	0.0009	0.0018	0.0008	0.0008	0.0016	0.0015	2.987e-05	2.236e-05	0	0	0.0158	0.0014	0.0002	0.0010	0.0018	0.0015	0.0015	0.0007	0.0024	0.0017	0.0013	0.0013	0.0008	0.0006	2.405e-05	0	0	0	0	0.0179	0	0.0004	0.0005	0.0017	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.999378	0.46831	D	2.71	0.79292	M	0.01	0.62459	T	-3.03	0.62747	D	0.487	0.52119	-0.0718	0.80739	T	0.441	0.77928	T	10	0.011494249	0.00251	T	.	.	.	0.453	0.75279	0.663	0.80098	0.796638325416	0.79474	0.6449815059138468	0.64433	0.417046807606	0.42336	0.436996817589	0.30167	T	0.561292	0.85318	D	-0.314858	0.07328	T	-0.249676	0.49848	T	0.0917502078245112	0.11424	T	0.767123	0.39533	T	0.38401026	0.59605	0.37821427	0.62904	0.5141746	0.67924	0.3304562	0.58914	-6.747	0.52163	T	0.6404888967544875	0.71113	0.333	0.55403	B	.;.	.;.	3.646754	0.51738	23.1	0.99442847584936889	0.64870	0.92131	0.55013	D	AEFDBI	0.536069	0.55443	D	0.56547503334926	0.71030	5.589233	0.473089049408269	0.66213	4.922825	0.999999985701156	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	4.59	0.56297	2.739000	0.47083	3.264000	0.37112	-0.176000	0.10722	0.987000	0.36337	0.998000	0.33993	0.118000	0.19084	0.0:0.9173:0.0:0.0827	12.683	0.56298	701	0.57775	.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2840.11	33	chr16	50710792	.	C	G	2840.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.184;DP=1479;ExcessHet=0.1072;FS=10.911;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.020;SOR=0.315	GT:AD:DP:GQ:PL	0/1:60,53:113:99:1412,0,1621	19	0	2	0
chr16	55701930	55701930	T	A	exonic	SLC6A2	.	nonsynonymous SNV	SLC6A2:NM_001172502:exon11:c.T1511A:p.F504Y	Orthostatic intolerance	.	1	1500	21	0	0	21	0.00695134	.	.	755248	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.32	T	1.0	D	0.988	D	0.000	D	1.000	D	0.805	L	-0.8	T	-0.359	T	0.405	T	0.687	4.425	23.5	5.03	1.902	5.525	13.773	0.496	0.0675619994368	0.0002	0.00139776	0.0012	0	0.0011	0	0	0.0003	0.0044	0.0067	0.0010608	164	154602	rs139680023	0.0007	0.0007	0.0004	0.0010	0.0081	0.0007	0.0007	0.0076	0.0074	2.989e-05	0.0006	0	0	0	0.0071	0.0002	0.0007	0.0081	0.0005	0.0005	0.0003	0.0007	0.0095	0.0004	0.0004	0.0073	0.0066	0	0	0.0001	0	0	0	0	0.0004	0	0.0095	0.003	0.78490	D	0.029	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.051590	0.999999	0.81001	D	1.87	0.49600	L	-0.85	0.77336	T	-1.35	0.37178	N	0.405	0.50598	-0.3590	0.73293	T	0.405	0.75501	T	10	0.010159522	0.00227	T	0.067562	0.70202	D	0.496	0.78100	.	.	0.848745377358	0.84729	0.5942093681427995	0.59350	0.85730736074	0.68797	0.598129212856	0.52640	T	0.128036	0.45545	T	-0.162796	0.26331	T	-0.00191641	0.70212	D	0.105187988208665	0.12918	T	0.660234	0.29515	T	0.49887446	0.67029	0.4039117	0.64833	0.5053471	0.67409	0.3590161	0.61367	-1.874	0.03121	T	.	.	0.213	0.45136	B	.;.;.;.;.;.	.;.;.;.;.;.	3.996893	0.58871	24.0	0.99467740798649085	0.66154	0.88031	0.47784	D	ALL	0.643845	0.62031	D	0.422060913277474	0.62635	4.482852	0.430067640720027	0.63447	4.57857	0.999999996252499	0.74766	0.520426	0.21595	0	0.596394	0.48810	0	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.03	5.03	0.67015	5.805000	0.68809	7.763000	0.68332	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.771000	0.36558	0.0:0.0:0.0:1.0	13.773	0.62523	871	0.31377	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1199.98	41	chr16	55701930	.	T	A	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.587e+00;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-5.400e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1214,0,1268	20	0	1	0
chr16	57528715	57528715	G	A	exonic	CCDC102A	.	nonsynonymous SNV	CCDC102A:NM_033212:exon2:c.C463T:p.R155C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.005	B	0.001	B	0.078	N	0.632	D	-0.345	N	0.86	T	-1.005	T	0.076	T	0.293	2.788	15.28	1.97	0.935	1.730	10.521	0.089	0.719751257531	.	.	0.0070	0	.	0	.	0	0	0.0084	5.17e-05	8	154602	rs752125279	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0003	0.0015	0.0014	0.0001	0	0	0	0	0.0004	0.0003	0.0002	0.0019	0.0001	0.0001	0.0002	6.978e-05	0.0006	9.554e-05	7.963e-05	0.0002	0.0001	2.435e-05	0	0	0	0	0	0	0.0003	0	0.0006	0.003	0.68238	D	0.063	0.45110	T	0.005	0.12996	B	0.001	0.04355	B	0.078392	0.02326	N	1.963630	0.632435	0.32802	D	-0.345	0.03330	N	0.86	0.46777	T	-3.22	0.64939	D	0.322	0.36254	-1.0051	0.28427	T	0.076	0.30397	T	10	0.008516163	0.00193	T	0.719751	0.97731	D	0.089	0.25827	.	.	0.330589388543	0.32661	0.2604755777176179	0.25960	2.19199492999	0.95646	0.933024644852	0.99149	D	0.104266	0.41368	T	-0.388486	0.02751	T	-0.48343	0.24081	T	0.166950327741942	0.18370	T	0.724428	0.33821	T	0.2144709	0.43854	0.14888753	0.35177	0.2144709	0.43854	0.14888753	0.35176	-9.297	0.69588	D	.	.	0.278	0.51094	B	.	.	5.298078	0.88949	29.8	0.99271597330678563	0.57559	0.86879	0.46259	D	AEFDBHCI	0.249049	0.36935	N	-0.466001850324522	0.23200	1.244234	-0.293113328792187	0.28325	1.578484	0.999999259197974	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.519653	0.09787	0	0.699875	0.68795	0	.	.	4.17	1.97	0.25278	2.584000	0.45768	5.818000	0.50061	0.542000	0.25261	0.979000	0.35152	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.6391:0.3609	10.521	0.44107	788	0.46569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	207.03	7	chr16	57528715	.	G	A	207.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.018;DP=336;ExcessHet=0.0000;FS=2.363;InbreedingCoeff=-0.0278;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.79;ReadPosRankSum=-7.090e-01;SOR=1.288	GT:AD:DP:GQ:PL	0/1:5,9:14:98:221,0,98	20	0	1	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.647	P	0.378	B	0.000	D	1.000	D	1.84	L	0.84	T	-0.901	T	0.154	T	0.731	3.314	17.14	4.78	1.896	7.581	14.602	0.231	0.0208761258462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.33753	T	0.075	0.42976	T	0.407	0.34981	B	0.378	0.43788	B	0.000001	0.84330	D	0.052997	1	0.81001	D	1.795	0.47270	L	0.84	0.47477	T	-2.77	0.58733	D	0.615	0.63798	-0.9008	0.47910	T	0.154	0.48430	T	10	0.5293914	0.63096	D	0.020876	0.43558	T	0.231	0.53208	0.523	0.62668	0.687836408464	0.68516	0.7237786903322078	0.72321	0.420935812295	0.42609	0.684337496758	0.64891	T	0.20038	0.55794	T	0.0804998	0.62098	D	-0.122144	0.61627	T	0.97700434923172	0.71640	D	0.972403	0.92553	D	0.57748663	0.71471	0.34648156	0.60315	0.57748663	0.71472	0.34648156	0.60315	-8.91	0.68874	D	.	.	0.597	0.68735	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.683808	0.74978	26.3	0.99334894869779522	0.59934	0.96941	0.71780	D	AEFBHCI	0.906918	0.86030	D	0.230208873191102	0.52667	3.439522	0.324970129236951	0.57011	3.865569	0.999999919631432	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.78	4.78	0.60666	7.642000	0.82531	6.210000	0.55001	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.602	0.68045	67	0.97183	.;THIF-type NAD/FAD binding fold;.;.;.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.175	350.22	138	chr16	66823281	.	T	C	350.22	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-3.935e+00;DP=1576;ExcessHet=2.5830;FS=217.219;InbreedingCoeff=-0.2105;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.615;SOR=11.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,23:93:50:.:.:50,0,1484	13	0	7	1
chr16	67842923	67842923	-	CAG	exonic	THAP11	.	nonframeshift insertion	THAP11:NM_020457:exon1:c.369_370insCAG:p.Q132_S133insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8936.32	34	chr16	67842920	.	ACAG	A,ACAGCAG	8936.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.124;DP=1180;ExcessHet=0.9430;FS=4.197;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.55;ReadPosRankSum=0.922;SOR=1.032	GT:AD:DP:GQ:PL	1/1:0,58,0:58:99:2518,175,0,2518,175,2518	13	1	6	0
chr16	67968592	67968592	-	CCCGCCGCTGTC	exonic	SLC12A4	.	nonframeshift insertion	SLC12A4:NM_001145962:exon1:c.62_63insGACAGCGGCGGG:p.G21_G22insTAAG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	1.94e-05	3	154602	rs774280757	0.0027	0.0026	0.0026	0.0028	0.0090	0.0026	0.0026	0.0085	0.0082	0.0003	0.0003	4.635e-05	3.584e-05	0.0003	0.0029	0.0026	0.0025	0.0090	0.0018	0.0019	0.0017	0.0020	0.0163	0.0017	0.0016	0.0134	0.0123	0.0009	0.0011	0.0003	0	0.0004	9.56e-05	0.0034	0.0022	0.0033	0.0163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	796.94	35	chr16	67968592	.	G	GCCCGCCGCTGTC	796.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.966e+00;DP=800;ExcessHet=0.0000;FS=3.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.53;ReadPosRankSum=-8.880e-01;SOR=0.235	GT:AD:DP:GQ:PL	0/1:22,21:43:99:811,0,865	20	0	1	0
chr16	67976199	67976199	G	A	exonic	DPEP3	.	nonsynonymous SNV	DPEP3:NM_001129758:exon9:c.C1121T:p.T374I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.943	P	0.706	P	0.000	D	0.901	N	2.75	M	1.92	T	-0.905	T	0.124	T	0.306	3.807	19.33	1.3	0.636	2.386	12.201	0.167	0.00847041090907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	2.722e-06	4.125e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.069	0.43913	T	.	.	.	.	.	.	0.000040	0.55875	D	0.157169	0.901023	0.27700	N	.	.	.	1.92	0.23082	T	-3.05	0.62976	D	0.439	0.47765	-0.9050	0.47447	T	0.124	0.42715	T	10	0.41063437	0.56199	T	0.00847	0.22407	T	0.167	0.42761	.	.	0.587902264344	0.58465	0.48355837636529136	0.48275	0.355846640087	0.37339	0.457770287991	0.33005	T	.	.	.	-0.127976	0.31824	T	-0.421605	0.30892	T	0.982165277004242	0.74331	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.239494	0.64268	24.7	0.99841825196439571	0.92229	0.88470	0.48413	D	AEFBCI	0.521724	0.54604	D	0.379038178991092	0.60288	4.216076	0.290759984419428	0.54998	3.663492	0.923681613224851	0.26752	0.695654	0.57023	0	0.681609	0.65952	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.71	1.3	0.20778	3.162000	0.50454	6.262000	0.55347	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.3213:0.6787	12.201	0.53633	10	0.99061	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1894.98	33	chr16	67976199	.	G	A	1894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.238;DP=878;ExcessHet=0.0000;FS=1.229;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.364;SOR=0.841	GT:AD:DP:GQ:PL	0/1:89,79:168:99:1909,0,2134	20	0	1	0
chr16	75612655	75612655	C	T	exonic	ADAT1	.	nonsynonymous SNV	ADAT1:NM_001324452:exon5:c.G370A:p.G124R	.	.	436	1073	12	1	0	14	0.00648148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.977	D	0.661	P	0.000	N	1.000	N	1.87	L	2.51	T	-0.989	T	0.029	T	0.047	2.712	15.03	-2.54	-0.739	0.119	0.830	0.110	.	0.0033	0.00539137	0.0023	0.0072	0.0012	0.0001	0.0003	0.0015	0	0.0055	0.0022186	343	154602	rs141222568	0.0017	0.0017	0.0016	0.0019	0.0089	0.0017	0.0017	0.0081	0.0078	0.0089	0.0015	0.0014	0	0.0001	0.0029	0.0014	0.0021	0.0054	0.0032	0.0032	0.0033	0.0031	0.0081	0.0029	0.0029	0.0074	0.0071	0.0081	0	0.0018	0.0009	0.0002	0.0002	0.0034	0.0013	0.0028	0.0035	0.028	0.46129	D	0.123	0.35582	T	0.977	0.58535	D	0.661	0.52837	P	0.000000	0.00162	N	4.993250	1	0.08975	N	1.87	0.49600	L	2.51	0.14284	T	-0.7	0.19933	N	0.233	0.26233	-0.9886	0.32953	T	0.029	0.12629	T	10	0.0045692623	0.00095	T	.	.	.	0.110	0.31079	0.39	0.41279	0.235664433957	0.23186	0.41253943025870293	0.41169	0.0274356299778	0.02802	0.220728248358	0.01352	T	0.076426	0.35416	T	-0.687563	0.00043	T	-0.753732	0.03343	T	0.0521565608282326	0.05873	T	0.377662	0.09049	T	0.14975688	0.34125	0.07514438	0.16512	0.14975688	0.34125	0.07514438	0.16511	-6.349	0.49110	T	.	.	0.092	0.13597	B	.	.	0.852351	0.12243	8.789	0.96644725927525632	0.30567	0.24791	0.22502	N	AEFBI	0.077017	0.15507	N	-0.831703712897375	0.12505	0.6099461	-1.0355483808111	0.09010	0.4459589	0.202722539984916	0.18143	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	-2.54	0.05941	0.422000	0.21016	-0.244000	0.10566	-0.804000	0.03133	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3326:0.2704:0.2068:0.1902	0.830	0.01056	550	0.72197	Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1883.98	34	chr16	75612655	.	C	T	1883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=0.642;SOR=0.679	GT:AD:DP:GQ:PL	0/1:66,72:138:99:1898,0,1566	20	0	1	0
chr16	77325982	77325982	T	C	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_001326358:exon13:c.A1400G:p.N467S	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	844318	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.985	D	0.000	D	1.000	D	2.335	M	3.46	T	-1.178	T	0.055	T	0.214	4.257	22.2	4.89	1.097	3.523	11.093	0.219	0.00977239833422	0.0006	0.000199681	0.0005	9.61e-05	8.682e-05	0.0001	0	0.0006	0	0.0010	0.0004592	71	154602	rs142639977	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	2.987e-05	0	0	2.52e-05	1.872e-05	0.0003	0.0006	0.0003	0.0007	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0005	0.0004	0.0001	0	0.0001	0	0	0	0	0.0006	0	0.0004	0.004	0.65419	D	0.056	0.46632	T	0.997	0.70673	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.999953	0.52396	D	1.66	0.42513	L	3.46	0.05249	T	-4.56	0.78636	D	0.386	0.42737	-1.1782	0.00397	T	0.055	0.23148	T	10	0.11436626	0.21515	T	0.009772	0.25495	T	0.219	0.51417	.	.	0.512539161327	0.50896	0.5626233936329291	0.56189	.	.	0.53309071064	0.43470	T	0.134772	0.46621	T	-0.445813	0.01195	T	-0.507071	0.21617	T	0.439864009618759	0.30424	T	0.865613	0.56501	D	0.3106371	0.53841	0.27697963	0.53647	0.3106371	0.53841	0.27697963	0.53646	-5.574	0.42554	T	.	.	0.076	0.05845	B	.	.	3.161740	0.42843	21.6	0.99889072908255638	0.96359	0.94941	0.62864	D	AEI	0.532102	0.55211	D	0.549785823821541	0.70068	5.447669	0.505434502773002	0.68354	5.208672	0.999994430289123	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.98	4.89	0.63387	3.504000	0.53107	0.963000	0.23005	0.665000	0.62972	1.000000	0.71638	0.824000	0.27153	0.941000	0.48210	0.0:0.0714:0.0:0.9286	11.093	0.47348	771	0.49057	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1813.98	38	chr16	77325982	.	T	C	1813.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=885;ExcessHet=0.0000;FS=2.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-1.399e+00;SOR=0.871	GT:AD:DP:GQ:PL	0/1:82,70:152:99:1828,0,2123	20	0	1	0
chr16	87604296	87604296	-	CTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTG:p.A157_V158insAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:43,49,0,0,0,3:95:99:1897,0,1637,2051,1762,3865,2051,1762,3865,3865,2051,1762,3865,3865,3865,1930,1591,3725,3725,3725,3782	4	4	6	0
chr16	87604296	87604296	-	CTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTG:p.A157_V158insA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:43,49,0,0,0,3:95:99:1897,0,1637,2051,1762,3865,2051,1762,3865,3865,2051,1762,3865,3865,3865,1930,1591,3725,3725,3725,3782	4	4	6	0
chr16	87604296	87604296	-	CTGCTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTGCTG:p.A157_V158insAAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:43,49,0,0,0,3:95:99:1897,0,1637,2051,1762,3865,2051,1762,3865,3865,2051,1762,3865,3865,3865,1930,1591,3725,3725,3725,3782	4	4	6	0
chr16	87604294	87604296	CTG	-	exonic	JPH3	.	nonframeshift deletion	JPH3:NM_001271604:exon2:c.437_439del:p.A157del,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:43,49,0,0,0,3:95:99:1897,0,1637,2051,1762,3865,2051,1762,3865,3865,2051,1762,3865,3865,3865,1930,1591,3725,3725,3725,3782	4	4	6	0
chr16	88433561	88433561	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G6091A:p.E2031K,	Brittle cornea syndrome 1, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	132440	Ehlers-Danlos_syndrome|not_provided|Keratoconus_1	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900|MONDO:MONDO:0007851,MedGen:C1835677,OMIM:148300	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.0	B	0.0	B	.	.	1.000	N	0	N	3.49	T	-0.958	T	0.010	T	0.135	1.056	9.314	-5.66	-1.451	-0.747	13.805	0.020	0.393756546926	.	.	0.0004	0	0	0	0	0	0	0.0010	5.17e-05	8	154602	rs273585622	8.154e-05	7.798e-05	6.351e-05	0.0001	0.0008	6.901e-05	6.422e-05	0.0006	0.0006	0	0	0	5.596e-05	0	0.0004	4.078e-05	5.174e-05	0.0008	3.283e-05	3.281e-05	0	6.712e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0006	0.775	0.03335	T	0.74	0.04982	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.43	0.05440	T	0.1	0.05810	N	0.063	0.03502	-0.9577	0.39608	T	0.010	0.03719	T	9	0.030807495	0.01209	T	0.393757	0.93246	D	0.020	0.03691	0.266	0.21261	0.132336055621	0.12781	0.12443907478148192	0.12369	.	.	0.288574516773	0.08715	T	0.002085	0.01490	T	-0.622405	0.00106	T	-0.751091	0.03443	T	0.00979798484691624	0.00129	T	0.460354	0.13329	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05017	B	.;.	.;.	-1.156161	0.00577	0.014	0.47103155907186317	0.03825	0.01060	0.03938	N	AEFBI	0.037174	0.05070	N	-1.87281714798071	0.00390	0.01677623	-1.91014876064469	0.00467	0.02069862	0.338105267768587	0.19555	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.88	-5.66	0.02255	-0.716000	0.05094	-3.057000	0.03100	-1.364000	0.01178	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6497:0.0:0.3503:0.0	13.805	0.62718	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	2560.98	96	chr16	88433561	.	G	A	2560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.035;DP=2038;ExcessHet=0.0000;FS=1.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-1.681e+00;SOR=0.583	GT:AD:DP:GQ:PL	0/1:116,107:223:99:2575,0,2770	20	0	1	0
chr16	88534464	88534466	AAG	-	exonic	ZFPM1	.	nonframeshift deletion	ZFPM1:NM_153813:exon10:c.2506_2508del:p.K837del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs777639643	7.425e-07	1.368e-06	1.474e-06	0	9.41e-07	0	0	.	.	0	0	0	0	0	0	9.41e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1733.94	35	chr16	88534463	.	CAAG	C	1733.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.840;DP=829;ExcessHet=0.0000;FS=0.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.76;ReadPosRankSum=1.74;SOR=0.604	GT:AD:DP:GQ:PL	0/1:63,47:110:99:1748,0,2447	20	0	1	0
chr16	88577265	88577265	C	G	exonic	ZC3H18	.	nonsynonymous SNV	ZC3H18:NM_001294340:exon2:c.C142G:p.L48V	.	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.001	B	0.003	B	0.259	N	1.000	N	1.61	L	1.54	T	-1.026	T	0.052	T	0.15	1.371	10.51	-1.9	-0.637	-1.229	6.301	0.010	0.00428242473985	7.7e-05	0.00119808	0.0009	0.0002	0	0	0	0	0	0.0066	0.0007309	113	154602	rs371740351	0.0004	0.0004	0.0003	0.0006	0.0063	0.0004	0.0004	0.0058	0.0057	2.988e-05	0	0	0	1.874e-05	0.0002	7.645e-05	0.0004	0.0063	0.0002	0.0002	0.0001	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	7.229e-05	0	0	0	0	0	0	8.825e-05	0	0.0060	0.082	0.91255	T	0.889	0.26386	T	0.001	0.07471	B	0.003	0.08700	B	0.258629	0.15360	N	0.636347	0.999999	0.08975	N	2.095	0.58118	M	1.53	0.30401	T	-0.55	0.21860	N	0.083	0.07398	-1.0265	0.21593	T	0.052	0.21921	T	10	0.0047850907	0.00101	T	0.004282	0.10373	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06307854009297596	0.06246	0.0181529329049	0.01774	0.430796653032	0.29317	T	0.032628	0.22570	T	-0.562048	0.00247	T	-0.576952	0.14818	T	0.0198137678743437	0.00683	T	0.720328	0.37414	T	0.04784187	0.08244	0.054356605	0.09333	0.04784187	0.08244	0.054356605	0.09333	-5.242	0.39366	T	.	.	0.062	0.01367	B	.;.;.	.;.;.	0.781626	0.11518	8.116	0.97022702883692602	0.32034	0.15624	0.19002	N	AEFBCI	0.091289	0.18492	N	-1.11748230113371	0.06332	0.2911887	-1.13668815139769	0.07009	0.3393893	0.999801398892853	0.43304	0.631515	0.41029	0	0.697927	0.68747	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.13	-1.9	0.07248	-0.764000	0.04841	-1.097000	0.06340	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.414000	0.27095	0.0:0.3558:0.2427:0.4015	6.301	0.20321	958	0.09170	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1051.98	64	chr16	88577265	.	C	G	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=1751;ExcessHet=0.0000;FS=0.717;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.69;ReadPosRankSum=0.578;SOR=0.843	GT:AD:DP:GQ:PL	0/1:80,41:121:99:1066,0,2218	20	0	1	0
chr16	88726377	88726377	A	C	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon27:c.T3875G:p.F1292C,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	417	1104	1	0	0	1	0.000452694	.	.	1883631	Inborn_genetic_diseases|Lymphatic_malformation_6|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.971	D	0.023	N	1.000	D	2.805	M	2.18	T	-0.905	T	0.140	T	0.883	3.152	16.54	3.67	0.838	6.618	9.566	0.417	0.315154546187	.	.	0.0001	0	0	0	0	0.0001	0	0.0001	1.94e-05	3	154602	rs778813372	7.295e-05	7.046e-05	7.48e-05	7.106e-05	0.0001	6.113e-05	5.705e-05	6.606e-05	6.091e-05	0	2.801e-05	0	0.0001	0	0	7.971e-05	6.898e-05	8.835e-05	4.6e-05	4.597e-05	6.424e-05	2.69e-05	9.653e-05	2.109e-05	1.527e-05	3.249e-05	1.915e-05	9.653e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.971	0.72444	D	0.023250	0.26477	N	0.427926	0.999395	0.46900	D	3.125	0.87999	M	2.18	0.18875	T	-7.11	0.93999	D	0.892	0.89131	-0.9051	0.47435	T	0.140	0.45866	T	10	0.8973725	0.89093	D	0.315155	0.91306	D	0.417	0.72705	0.622	0.75690	0.296721761885	0.29290	0.7529840936564749	0.75245	.	.	0.612117528915	0.54616	T	0.604055	0.87353	D	0.0908151	0.63282	D	0.0773163	0.75399	D	0.636692456467547	0.37897	D	0.955504	0.83071	D	0.66927165	0.76394	0.5790507	0.75604	0.66927165	0.76395	0.5790507	0.75605	-11.767	0.83697	D	0.3455254332899889	0.44305	0.389	0.58925	A	.	.	4.431241	0.68724	25.3	0.99194614814352688	0.55083	0.97655	0.76193	D	AEFBI	0.847917	0.76475	D	0.571605410910855	0.71407	5.646161	0.463580061333278	0.65594	4.843482	0.962547011834185	0.28630	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.76	3.67	0.41236	5.761000	0.68452	7.052000	0.57375	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.9142:0.0:0.0857:0.0	9.566	0.38565	873	0.30802	Piezo domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1762.98	35	chr16	88726377	.	A	C	1762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.821;DP=842;ExcessHet=0.0000;FS=0.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.32;ReadPosRankSum=-9.610e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:50,58:108:99:1777,0,1389	20	0	1	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2918.97	43	chr17	413815	.	C	T,*	2918.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-9.170e-01;DP=995;ExcessHet=1.0444;FS=2.763;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=51.80;MQRankSum=-3.755e+00;QD=7.60;ReadPosRankSum=-9.580e-01;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:4,0,45:49:37:.:.:1234,1248,1354,37,144,0	10	0	5	3
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3137.97	43	chr17	413822	.	C	A,*	3137.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-1.168e+00;DP=1002;ExcessHet=1.0444;FS=2.178;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.17;MQRankSum=-3.592e+00;QD=7.94;ReadPosRankSum=-4.250e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:4,0,45:49:37:.:.:1234,1248,1354,37,144,0	10	0	5	3
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3065.97	43	chr17	413824	.	C	T,*	3065.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.335;DP=1012;ExcessHet=1.0444;FS=2.500;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.20;MQRankSum=-3.428e+00;QD=7.59;ReadPosRankSum=-6.710e-01;SOR=0.530	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:4,0,45:49:37:.:.:1234,1248,1354,37,144,0	10	0	5	3
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3197.3	43	chr17	413831	.	A	G,*	3197.3	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.140;DP=1043;ExcessHet=1.1637;FS=2.534;InbreedingCoeff=0.0221;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.56;MQRankSum=-3.559e+00;QD=7.69;ReadPosRankSum=-1.155e+00;SOR=0.480	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:4,0,45:49:37:.:.:1234,1248,1354,37,144,0	10	0	5	3
chr17	746362	746362	C	A	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.G1681T:p.V561L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.099	B	0.041	B	0.000	D	1.000	D	1.24	L	2.27	T	-1.088	T	0.037	T	0.493	0.074	4.398	4.82	2.779	1.809	15.547	0.073	0.00560473179668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.543	0.06735	T	0.171	0.30436	T	0.099	0.25639	B	0.041	0.23986	B	0.000233	0.47286	D	0.137832	0.997128	0.43648	D	1.845	0.48678	L	2.27	0.17431	T	-0.04	0.07590	N	0.366	0.40864	-1.0883	0.05821	T	0.037	0.15770	T	10	0.20383835	0.36554	T	0.005605	0.14469	T	0.073	0.21317	0.45	0.51121	0.303123707472	0.29912	0.24898750534763694	0.24812	0.153351658725	0.17303	0.599002361298	0.52762	T	0.010521	0.09491	T	-0.144128	0.29234	T	-0.444807	0.28273	T	0.150632619857788	0.17154	T	0.743426	0.36288	T	0.05914177	0.11985	0.06299351	0.12410	0.05914177	0.11985	0.06299351	0.12409	-3.339	0.14245	T	.	.	0.259	0.49334	B	.;.	.;.	2.023479	0.25718	16.86	0.84668860130870516	0.15427	0.75694	0.37074	D	AEFGBCI	0.086164	0.17469	N	-0.172974170491084	0.34264	1.953571	-0.0154381329595691	0.39017	2.307135	0.58802200092341	0.21624	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	4.82	0.61641	1.870000	0.39166	4.892000	0.45774	0.549000	0.26987	0.902000	0.31475	1.000000	0.68203	0.430000	0.27449	0.0:0.8621:0.1379:0.0	15.547	0.75846	942	0.12992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	6121.08	33	chr17	746362	.	C	A	6121.08	.	AC=2;AF=0.048;AN=42;DP=2679;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.56;SOR=0.953	GT:AD:DP:GQ:PL	1/1:0,188:188:99:6149,564,0	20	1	0	0
chr17	2039805	2039805	C	G	exonic	DPH1	.	nonsynonymous SNV	DPH1:NM_001346576:exon6:c.C326G:p.P109R	Developmental delay with short stature, dysmorphic features, and sparse hair, Autosomal recessive	.	429	1068	25	0	0	25	0.0115687	.	.	715292	DPH1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	3.365	M	0.85	T	-0.101	T	0.315	T	0.907	4.565	24.7	4.66	2.425	5.101	16.763	0.508	0.0930625867412	0.0037	0.00299521	0.0051	0.0008	0.0020	0	0.0020	0.0070	0.0089	0.0060	0.0048318	747	154602	rs80150196	0.0052	0.0052	0.0051	0.0054	0.0071	0.0051	0.0051	0.0062	0.0061	0.0008	0.0023	0.0010	0	0.0040	0.0071	0.0057	0.0047	0.0067	0.0037	0.0037	0.0038	0.0035	0.0064	0.0034	0.0033	0.0049	0.0047	0.0008	0	0.0056	0.0014	0	0.0034	0.0102	0.0053	0.0033	0.0064	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.054132	1	0.81001	D	3.68	0.94442	H	0.85	0.47130	T	-8.67	0.97580	D	0.946	0.95725	-0.1012	0.80071	T	0.315	0.68451	T	10	0.07061556	0.10296	T	0.093063	0.76004	D	0.508	0.78848	.	.	0.702741401759	0.70016	0.8725920003565045	0.87225	0.59895004759	0.55043	0.538162469864	0.44186	T	0.633751	0.88682	D	-0.0244674	0.48214	T	0.197205	0.82975	D	0.108463703120588	0.13263	T	0.992201	0.97531	D	0.85482275	0.87694	0.8572672	0.91993	0.8915819	0.90644	0.8382441	0.90723	-10.153	0.74823	D	.	.	0.223	0.45433	B	.;.	.;.	5.088951	0.84970	28.5	0.99795850266812469	0.88106	0.90517	0.51758	D	AEFBCI	0.673786	0.63972	D	0.779499025026802	0.84809	8.392263	0.686683549755314	0.81367	7.510028	0.999999999999405	0.74766	0.732398	0.92422	0	0.697927	0.68747	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.66	4.66	0.57857	6.606000	0.74036	7.661000	0.64234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:1.0:0.0:0.0	16.763	0.85377	340	0.86005	.;.	.	.	.	.	.	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	0.04762	5540.08	37	chr17	2039805	.	C	G	5540.08	.	AC=2;AF=0.048;AN=42;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.95;SOR=0.944	GT:AD:DP:GQ:PL	1/1:0,185:185:99:5568,555,0	20	1	0	0
chr17	3092802	3092802	G	T	exonic	OR1D2	.	nonsynonymous SNV	OR1D2:NM_002548:exon1:c.C195A:p.N65K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.018	B	0.015	B	.	.	0.964	N	3.275	M	2.64	T	-1.003	T	0.055	T	0.369	1.808	12.00	-1.69	-0.674	0.213	7.699	0.173	0.00221577618055	.	.	0.0003	0	0.0002	0	0	0	0	0.0021	0.0002393	37	154602	rs766470657	0.0001	0.0001	7.487e-05	0.0002	0.0023	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0	8.993e-07	8.279e-05	0.0023	3.946e-05	4.597e-05	2.571e-05	5.386e-05	0.0012	1.717e-05	1.13e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.011	0.55530	D	0.02	0.58613	D	0.018	0.17786	B	0.015	0.17295	B	.	.	.	.	0.964038	0.25999	N	2.6	0.76081	M	2.64	0.12780	T	-4.37	0.77061	D	0.537	0.56489	-1.0031	0.29021	T	0.055	0.23224	T	9	0.028298855	0.00964	T	0.002216	0.04178	T	0.173	0.43840	0.729	0.86286	0.325533332567	0.32158	0.6871740137935639	0.68657	0.099863086041	0.11279	0.284465551376	0.08123	T	0.132132	0.46203	T	-0.50971	0.00504	T	-0.510487	0.21266	T	0.159478160465985	0.17833	T	0.139986	0.01122	T	0.5448814	0.69670	0.5657515	0.74865	0.5448814	0.69671	0.5657515	0.74866	-9.233	0.69185	D	.	.	0.588	0.68400	P	.;.;.	.;.;.	1.732579	0.22052	15.46	0.98430703792289365	0.41397	0.85932	0.45125	D	AEFBI	0.240844	0.36256	N	-0.50784189454199	0.21825	1.161124	-0.544114575157962	0.20961	1.131778	2.72222216780305E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567339	0.31927	0	.	.	3.0	-1.69	0.07747	0.027000	0.13512	-2.184000	0.04090	-1.805000	0.00619	0.053000	0.21524	0.000000	0.08366	0.910000	0.44547	0.3711:0.0:0.6289:0.0	7.699	0.27774	793	0.45818	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	2714.33	47	chr17	3092802	.	G	T	2714.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.916;DP=1516;ExcessHet=0.0000;FS=2.200;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.65;MQRankSum=-1.427e+00;QD=11.36;ReadPosRankSum=-4.170e-01;SOR=0.556	GT:AD:DP:GQ:PL	0/1:132,107:239:99:2728,0,3398	19	0	1	1
chr17	3481603	3481603	-	A	exonic	ASPA	.	frameshift insertion	ASPA:NM_000049:exon2:c.238dupA:p.M82Nfs*8	Canavan disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	358413	Canavan_Disease,_Familial_Form|Inborn_genetic_diseases|not_provided|Spongy_degeneration_of_central_nervous_system	MedGen:C0751663|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010079,MedGen:C0206307,OMIM:271900,Orphanet:141	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.076e-06	0	0	0	0	1.689e-05	0	0	0.000461	12	26028	rs1057516583	6.161e-06	7.525e-06	8.173e-06	4.129e-06	5.978e-05	2.9e-06	2.1e-06	9.9e-06	3.7e-06	5.978e-05	0	0	0	0	0	5.398e-06	0	1.162e-05	1.317e-05	1.314e-05	2.574e-05	0	2.419e-05	2.19e-06	8.2e-07	.	.	2.419e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	429.94	25	chr17	3481603	.	C	CA	429.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.289;DP=606;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-7.930e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/1:17,18:35:99:444,0,414	20	0	1	0
chr17	4449297	4449297	G	C	exonic	SPNS3	.	nonsynonymous SNV	SPNS3:NM_001320449:exon6:c.G452C:p.G151A	.	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.056	B	0.063	B	0.000	D	0.689	D	0.235	N	0.37	T	-1.008	T	0.076	T	0.346	0.222	5.199	5.05	2.496	3.704	12.091	0.094	.	7.7e-05	0.00279553	0.0021	0.0002	0.0002	0	0	0.0001	0.0022	0.0150	0.0018758	290	154602	rs201912448	0.0008	0.0008	0.0005	0.0012	0.0129	0.0008	0.0008	0.0123	0.0120	2.989e-05	6.725e-05	0.0001	0	0	0.0017	4.587e-05	0.0008	0.0129	0.0005	0.0005	0.0003	0.0008	0.0145	0.0004	0.0004	0.0118	0.0108	7.22e-05	0	6.544e-05	0	0	0	0.0034	7.351e-05	0	0.0145	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.026	0.20792	B	0.000153	0.49130	D	0.178889	0.689164	0.33309	D	0.755	0.19153	N	0.37	0.57729	T	-0.09	0.08340	N	0.13	0.12484	-1.0081	0.27510	T	0.076	0.30522	T	10	0.0063791275	0.00144	T	.	.	.	0.094	0.27141	.	.	0.319970858106	0.31615	0.6738670218785657	0.67324	0.141389581085	0.15943	0.596584022045	0.52422	T	0.085738	0.37569	T	-0.423821	0.01618	T	-0.36989	0.36902	T	0.0358673044877379	0.02957	T	0.889011	0.61998	D	0.10377086	0.24529	0.16555831	0.38294	0.10377086	0.24529	0.16555831	0.38293	-5.956	0.45909	T	.	.	0.155	0.34205	B	.	.	3.074346	0.41339	21.3	0.27446281871379524	0.01363	0.73814	0.36105	D	AEFDBI	0.382196	0.46417	N	-0.286664669613745	0.29663	1.646946	-0.050988463508262	0.37448	2.192712	0.0920350723014115	0.16149	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.05	5.05	0.67566	4.173000	0.58043	9.822000	0.81809	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.1736:0.8264:0.0	12.091	0.53028	716	0.55970	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	0.02381	346.98	37	chr17	4449297	.	G	C	346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.403;DP=1038;ExcessHet=0.0000;FS=2.069;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.08;ReadPosRankSum=0.138;SOR=0.634	GT:AD:DP:GQ:PL	0/1:64,21:85:99:361,0,1648	20	0	1	0
chr17	4543158	4543158	G	T	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon20:c.C2647A:p.L883M	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	0.997	D	2.175	M	-0.48	T	-0.017	T	0.488	T	0.604	4.689	25.9	4.94	1.513	2.857	10.944	0.495	.	.	0.00479233	0.0024	0	9.173e-05	0	0	1.689e-05	0	0.0170	0.0019146	296	154602	rs375427927	0.0011	0.0011	0.0006	0.0015	0.0161	0.0010	0.0010	0.0154	0.0151	3e-05	0	0	0	0	0.0016	8.124e-05	0.0012	0.0161	0.0006	0.0006	0.0004	0.0009	0.0195	0.0005	0.0005	0.0163	0.0151	4.808e-05	0	0	0	0	0	0	4.41e-05	0	0.0195	0.01	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000024	0.55875	D	0.071589	0.99712	0.43648	D	2.08	0.57402	M	-0.48	0.70249	T	-1.49	0.36385	N	0.447	0.49420	-0.0167	0.81907	T	0.488	0.80496	T	10	0.010604382	0.00235	T	.	.	.	0.495	0.78036	0.621	0.75576	0.946356712301	0.94579	0.35217341213706815	0.35131	.	.	0.495547831059	0.38208	T	0.072581	0.34489	T	-0.277236	0.10964	T	-0.158033	0.58529	T	0.0833887323889234	0.10415	T	0.730627	0.34608	T	0.26152217	0.49211	0.18654577	0.41833	0.26152217	0.49211	0.18654577	0.41832	-9.503	0.70989	D	.	.	0.530	0.65916	A	.;.	.;.	3.560736	0.50099	22.9	0.99630471812760102	0.76020	0.92000	0.54724	D	AEFDBCI	0.501297	0.53419	D	0.622463866891643	0.74596	6.159823	0.589509556848684	0.74186	6.094463	0.997980605205088	0.36275	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.91	4.94	0.64645	2.729000	0.46998	1.250000	0.25164	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	0.0858:0.0:0.9142:0.0	10.944	0.46501	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	733.98	37	chr17	4543158	.	G	T	733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.285e+00;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=1.93;SOR=0.857	GT:AD:DP:GQ:PL	0/1:29,29:58:99:748,0,830	20	0	1	0
chr17	4555303	4555303	G	A	exonic	MYBBP1A	.	stopgain	MYBBP1A:NM_001105538:exon1:c.C22T:p.Q8X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	0.022	N	0.000	P	.	.	.	.	.	.	.	.	.	8.483	40	4.08	1.325	0.812	13.597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021789	0.26762	N	0.340848	1.08505e-31	0.81001	P	.	.	.	.	.	.	.	.	.	0.584	0.60495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399883	0.89908	D	0.336628	0.89781	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.359783	0.95079	34	0.99709785534523143	0.81213	0.14346	0.18354	N	AEFGBHCIJ	0.025419	0.01737	N	0.141900574364266	0.48429	3.055294	-0.202917210802255	0.31431	1.778749	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.08	4.08	0.46880	0.383000	0.20381	1.287000	0.25388	-2.041000	0.00424	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.0:0.842:0.158:0.0	13.597	0.61460	744	0.52588	.;.	.	.	.	.	.	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	0.2143	13068.37	44	chr17	4555303	.	G	C,A	13068.37	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-5.810e-01;DP=1414;ExcessHet=0.0874;FS=0.000;InbreedingCoeff=0.2929;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=0.432;SOR=0.738	GT:AD:DP:GQ:PL	0/1:48,77,0:125:99:1653,0,1150,1797,1381,3178	14	2	4	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	36673.09	217	chr17	4933907	.	ACCACCCCAGAGCCCAC	A,*	36673.09	.	AC=11,22;AF=0.262,0.524;AN=42;BaseQRankSum=-2.218e+00;DP=3857;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=11,22;MLEAF=0.262,0.524;MQ=59.64;MQRankSum=0.207;QD=13.33;ReadPosRankSum=0.579;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,96,66:162:99:0|1:4933907_ACCACCCCAGAGCCCAC_*:5706,1978,2429,2966,0,2602:4933907	1	2	3	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	3830.01	217	chr17	4933915	.	A	*,G	3830.01	.	AC=30,4;AF=0.750,0.100;AN=40;BaseQRankSum=1.91;DP=3710;ExcessHet=0.5418;FS=1.062;InbreedingCoeff=-0.0551;MLEAC=31,4;MLEAF=0.775,0.100;MQ=59.65;MQRankSum=0.00;QD=1.56;ReadPosRankSum=0.309;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,96,0:162:99:0|1:4933907_ACCACCCCAGAGCCCAC_*:3728,0,451,3465,424,3679:4933907	0	10	6	1
chr17	4955525	4955525	-	TCA	exonic	ENO3	.	nonframeshift insertion	ENO3:NM_001193503:exon6:c.657_658insTCA:p.S220_P221insS	.	.	0	1514	8	0	0	8	0.00263505	.	.	346463	Glycogen_storage_disease_due_to_muscle_beta-enolase_deficiency	MONDO:MONDO:0013046,MedGen:C2752027,OMIM:612932,Orphanet:99849	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0045	9.61e-05	0.0002	0	0	1.499e-05	0.0077	0.0325	0.0021515	56	26028	rs548538086	0.0021	0.0021	0.0012	0.0030	0.0330	0.0020	0.0020	0.0320	0.0316	2.987e-05	4.472e-05	0	0	0	0.0010	2.878e-05	0.0024	0.0330	0.0011	0.0011	0.0006	0.0016	0.0324	0.0009	0.0009	0.0282	0.0266	4.809e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4335.94	33	chr17	4955525	.	G	GTCA	4335.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=949;ExcessHet=0.0000;FS=1.031;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.27;ReadPosRankSum=-9.460e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,112:225:99:0|1:4955525_G_GTCA:4350,0,4388:4955525	20	0	1	0
chr17	5137127	5137127	G	A	exonic	USP6	.	nonsynonymous SNV	USP6:NM_004505:exon11:c.G766A:p.E256K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.646	P	0.621	P	0.000	D	1.000	N	1.305	L	1.56	T	-1.016	T	0.065	T	0.261	0.596	7.214	0.046	0.132	-0.012	.	0.103	0.00131799318264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.11478	T	0.19	0.28482	T	0.646	0.40549	P	0.621	0.51426	P	0.000001	0.84330	D	0.094118	1	0.08975	N	1.165	0.29723	L	1.56	0.29602	T	-1.04	0.27259	N	0.112	0.12913	-1.0155	0.25175	T	0.065	0.26807	T	9	0.12221953	0.23181	T	0.001318	0.01860	T	0.103	0.29403	0.607	0.73945	0.401185642668	0.39728	0.4003490902152311	0.39949	0.624851547064	0.56675	0.518446981907	0.41407	T	0.004262	0.03670	T	-0.259796	0.12923	T	-0.610955	0.11908	T	0.635404407978058	0.37843	D	0.772323	0.40326	T	0.1512922	0.34401	0.1494629	0.35289	0.1512922	0.34400	0.1494629	0.35288	-5.883	0.45290	T	.	.	0.118	0.29228	B	.;.	.;.	1.959313	0.24885	16.56	0.96022710991951976	0.28480	0.00319	0.01677	N	AEFBI	0.047518	0.08009	N	-0.894190267116978	0.10980	0.5274662	-1.11379519759152	0.07436	0.3616913	1.65588008074204E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	0.046	0.046	0.13572	-0.987000	0.03854	-2.019000	0.04336	0.139000	0.17671	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	.	.	.	632	0.64850	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	977.98	36	chr17	5137127	.	G	A	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=814;ExcessHet=0.0000;FS=4.122;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=1.69;SOR=1.222	GT:AD:DP:GQ:PL	0/1:54,37:91:99:992,0,1409	20	0	1	0
chr17	7580115	7580115	G	A	exonic	CD68	.	nonsynonymous SNV	CD68:NM_001040059:exon2:c.G274A:p.A92T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.001	B	0.006	B	.	.	1.000	N	0.11	N	1.44	T	-0.960	T	0.029	T	0.204	1.208	9.904	-7.13	-1.247	-0.264	8.661	0.022	0.0154466429848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.02495	T	1.0	0.01155	T	0.001	0.07471	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.235	0.09667	N	1.44	0.32722	T	0.42	0.03352	N	0.028	0.00942	-0.9600	0.39181	T	0.029	0.12234	T	9	0.022825927	0.00580	T	0.015447	0.36188	T	0.022	0.04323	0.407	0.44066	0.185906805712	0.18197	0.406610917296042	0.40577	0.101639587163	0.11499	0.204516500235	0.00600	T	0.098091	0.40157	T	-0.263357	0.12511	T	-0.616071	0.11497	T	0.124516799449829	0.14865	T	0.60024	0.23205	T	0.03725211	0.04739	0.05914303	0.11051	0.03725211	0.04738	0.05914303	0.11050	-4.144	0.32121	T	.	.	0.062	0.02118	B	.;.;.	.;.;.	-0.018326	0.04159	0.998	0.7543691481177246	0.11075	0.01056	0.03928	N	AEFDGBHCI	0.327462	0.42842	N	-1.46333754266101	0.02114	0.09301216	-1.47573564260165	0.02544	0.117214	0.9999999999884	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.459711	0.06710	0	0.735409	0.98432	0	.	.	5.22	-7.13	0.01379	-0.601000	0.05783	-1.348000	0.05654	-0.153000	0.12021	0.002000	0.15269	0.000000	0.08366	0.948000	0.49324	0.7055:0.0:0.1706:0.124	8.661	0.33253	483	0.77230	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3213.98	33	chr17	7580115	.	G	A	3213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.772e+00;DP=983;ExcessHet=0.0000;FS=2.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=-1.020e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/1:147,127:274:99:3228,0,3901	20	0	1	0
chr17	7846865	7846865	-	ACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACC:p.P264_L265insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:1,63,0,0,0,0:66:99:2793,171,0,2672,278,3036,2672,278,3036,3036,2672,278,3036,3036,3036,2672,278,3036,3036,3036,3036	0	14	0	0
chr17	7846865	7846865	-	ACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACC:p.P264_L265insPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:1,63,0,0,0,0:66:99:2793,171,0,2672,278,3036,2672,278,3036,3036,2672,278,3036,3036,3036,2672,278,3036,3036,3036,3036	0	14	0	0
chr17	7846865	7846865	-	ACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACC:p.P264_L265insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:1,63,0,0,0,0:66:99:2793,171,0,2672,278,3036,2672,278,3036,3036,2672,278,3036,3036,3036,2672,278,3036,3036,3036,3036	0	14	0	0
chr17	7846865	7846865	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:1,63,0,0,0,0:66:99:2793,171,0,2672,278,3036,2672,278,3036,3036,2672,278,3036,3036,3036,2672,278,3036,3036,3036,3036	0	14	0	0
chr17	9022757	9022757	C	G	exonic	NTN1	.	nonsynonymous SNV	NTN1:NM_004822:exon2:c.C384G:p.F128L,	.	.	424	1097	1	0	0	1	0.000455581	.	.	2757460	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.004	B	0.000	D	1.000	D	0.345	N	-0.97	T	-0.830	T	0.211	T	0.305	1.685	11.59	4.81	2.218	1.976	17.469	0.167	0.0458100868723	.	0.000399361	0.0002	0	0	0	0	0	0	0.0013	0.0001164	18	154602	rs571334142	9.125e-05	9.098e-05	5.323e-05	0.0001	0.0015	7.846e-05	7.327e-05	0.0013	0.0012	0	0	0	0	0	0.0002	2.701e-06	1.66e-05	0.0015	1.97e-05	1.969e-05	0	4.031e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.018e-05	0	0	0	0	0	0	0	0	0	0.0006	0.645	0.04928	T	0.634	0.07105	T	0.0	0.02946	B	0.004	0.10090	B	0.000002	0.62929	D	0.059557	0.999979	0.53665	D	-0.205	0.04094	N	-0.97	0.75670	T	-1.09	0.28290	N	0.327	0.36779	-0.8299	0.53308	T	0.211	0.57147	T	10	0.029969305	0.01123	T	0.04581	0.62157	D	0.167	0.42761	0.693	0.83032	0.775718912632	0.77366	0.6918174826752812	0.69121	.	.	0.797733008862	0.81618	T	0.43677	0.78304	T	-0.35417	0.04470	T	-0.316895	0.42913	T	0.0554417762743812	0.06431	T	0.740526	0.35940	T	0.4641763	0.64931	0.3322638	0.59076	0.4641763	0.64931	0.3322638	0.59076	-7.801	0.59706	D	.	.	0.675	0.71921	P	.	.	2.777471	0.36477	20.3	0.9393932255473495	0.23993	0.94408	0.61070	D	AEFDGBCI	0.468830	0.51546	N	-0.293210988030162	0.29409	1.630652	-0.0783452303999893	0.36287	2.109839	0.999999999999955	0.74766	0.652421	0.48094	0	0.609123	0.50646	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.81	4.81	0.61401	2.084000	0.41249	0.105000	0.14702	0.572000	0.28966	1.000000	0.71638	0.199000	0.23556	0.996000	0.76049	0.0:1.0:0.0:0.0	17.469	0.87534	938	0.14419	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3240.98	37	chr17	9022757	.	C	G	3240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.170e-01;DP=931;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=1.69;SOR=0.719	GT:AD:DP:GQ:PL	0/1:95,127:222:99:3255,0,2434	20	0	1	0
chr17	11664948	11664948	A	C	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon15:c.A2711C:p.K904T,	.	.	417	1102	3	0	0	3	0.00135931	.	.	1436216	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.61	T	0.001	B	0.002	B	0.004	N	1.000	D	1.24	L	1.75	T	-1.091	T	0.046	T	0.555	1.001	9.086	4.48	0.950	4.255	11.188	0.137	0.0160767779393	.	.	0.0001	0	8.639e-05	0	0	0	0.0011	0.0010	0.0001229	19	154602	rs563643312	4.79e-05	4.788e-05	2.724e-05	6.878e-05	0.0008	3.861e-05	3.541e-05	0.0006	0.0006	0	0	0	0	0	0.0002	8.996e-07	4.969e-05	0.0008	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.633	0.05372	T	.	.	.	0.001	0.07471	B	0.002	0.06944	B	0.004390	0.33795	N	0.273464	0.854467	0.35278	D	2.325	0.66631	M	1.75	0.26737	T	-1.26	0.39692	N	0.637	0.65159	-1.0914	0.05303	T	0.046	0.19879	T	10	0.12796912	0.24340	T	0.016077	0.37157	T	0.137	0.36984	0.511	0.60846	0.408172294925	0.40431	0.4884469145763177	0.48764	0.104621109096	0.11836	0.513882637024	0.40766	T	0.023651	0.18014	T	-0.379645	0.03132	T	-0.386932	0.34911	T	0.118804813066266	0.14313	T	0.931307	0.74459	D	0.12338052	0.28972	0.098131746	0.23384	0.12338052	0.28971	0.098131746	0.23383	-3.084	0.11113	T	.	.	0.114	0.22789	B	.;.	.;.	3.255190	0.44492	21.9	0.93449685195642906	0.23231	0.95586	0.65314	D	AEFBI	0.731557	0.67859	D	-0.25298705191668	0.30985	1.732935	-0.0677723879419451	0.36731	2.141377	0.00100838574497673	0.08115	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.56	4.48	0.53973	4.184000	0.58121	8.056000	0.76378	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9283:0.0:0.0717:0.0	11.188	0.47896	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1229.98	35	chr17	11664948	.	A	C	1229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.844e+00;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-7.800e-02;SOR=0.628	GT:AD:DP:GQ:PL	0/1:36,51:87:99:1244,0,902	20	0	1	0
chr17	11769290	11769290	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon38:c.G7513A:p.V2505M,	.	.	.	.	.	.	.	.	.	.	.	1881216	not_provided|Ciliary_dyskinesia,_primary,_40	MedGen:CN517202|MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.983	D	0.000	D	1.000	D	1.885	L	0.76	T	-0.585	T	0.256	T	0.585	4.219	21.9	4.42	2.696	6.624	15.044	0.258	0.0218419782163	.	.	.	.	.	.	.	.	.	.	.	.	.	rs61744697	2.532e-05	2.668e-05	2.587e-05	2.476e-05	3.058e-05	1.868e-05	1.631e-05	2.201e-05	1.942e-05	0	2.238e-05	0	0	0	0	3.058e-05	3.312e-05	0	1.973e-05	1.97e-05	1.285e-05	2.693e-05	4.413e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.983	0.75793	D	0.000045	0.53742	D	0.072443	0.999383	0.46865	D	2.25	0.63811	M	0.76	0.49919	T	-2.67	0.57599	D	0.769	0.76666	-0.5845	0.65439	T	0.256	0.62654	T	10	0.7352324	0.74574	D	0.021842	0.44662	T	0.258	0.56959	.	.	0.774474433012	0.77239	0.3179891463867298	0.31711	0.347852433776	0.36664	0.746689200401	0.73958	T	0.075061	0.35088	T	-0.0657462	0.42004	T	-0.249351	0.49880	T	0.984724402427673	0.75940	D	0.962504	0.85970	D	0.5966305	0.72510	0.6325674	0.78560	0.5966305	0.72511	0.6325674	0.78561	-8.182	0.62303	D	.	.	0.431	0.61224	A	.;.	.;.	4.649747	0.74108	26.1	0.99897938953681575	0.97048	0.98265	0.81073	D	AEFBI	0.792719	0.72093	D	0.755908847488631	0.83290	7.978672	0.73215705160511	0.84821	8.399915	0.028323419212433	0.13824	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	4.42	0.52775	6.844000	0.75184	5.773000	0.49755	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.0722:0.0:0.9278:0.0	15.044	0.71475	837	0.37933	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	8001.18	33	chr17	11769290	.	G	A,T	8001.18	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.81;DP=1102;ExcessHet=0.0082;FS=1.185;InbreedingCoeff=0.4474;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=17.43;ReadPosRankSum=0.478;SOR=0.568	GT:AD:DP:GQ:PL	0/2:111,0,84:195:99:2046,2379,5328,0,2949,2698	18	0	0	0
chr17	16353372	16353372	G	C	exonic	CENPV	.	nonsynonymous SNV	CENPV:NM_181716:exon1:c.C65G:p.A22G,	.	.	493	451	356	217	5	795	0.466903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.002	B	0.018	N	0.995	P	.	.	.	.	-1.045	T	0.000	T	0.13	-0.711	0.937	-5.31	-0.962	-0.654	7.385	0.005	0.0196258658988	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs149829221	7.149e-05	0.0003	7.417e-05	6.858e-05	0.0004	5.819e-05	5.381e-05	9.822e-05	5.577e-05	0	0.0004	0	0.0002	0	0	7.546e-05	2.353e-05	0	0.0001	0.0002	0.0002	0.0001	0.0004	9.954e-05	8.437e-05	0.0001	9.132e-05	7.305e-05	0	6.661e-05	0	0.0004	0.0001	0.0034	0.0002	0	0.0002	0.561	0.06361	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.018135	0.01481	N	4.295950	1	0.23375	P	.	.	.	.	.	.	0.16	0.05217	N	0.077	0.05162	-1.0452	0.15767	T	0.000	0.00011	T	7	0.019916922	0.00451	T	0.019626	0.42042	T	0.005	0.00259	.	.	0.0884992946249	0.08302	0.0786799102888714	0.07802	1.08031386052	0.77120	0.761266052723	0.76117	T	.	.	.	-0.513494	0.00480	T	-0.57513	0.14982	T	0.0382244026170994	0.03372	T	0.321768	0.06536	T	.	.	.	.	.	.	.	.	-4.474	0.30547	T	.	.	0.062	0.01367	B	.	.	0.600789	0.09695	6.463	0.46967313541535144	0.03803	0.01035	0.03875	N	AEFDGBHCI	0.040505	0.06034	N	-1.72508104807624	0.00756	0.03267343	-1.84943526281674	0.00613	0.02726113	0.99999999998593	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.66	-5.31	0.02519	0.072000	0.14482	-2.522000	0.03652	0.272000	0.18543	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.3102:0.4876:0.2022	7.385	0.26048	688	0.59122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	6610.61	16	chr17	16353372	.	G	GCGGAGGCCC,C	6610.61	.	AC=23,1;AF=0.548,0.024;AN=42;BaseQRankSum=0.00;DP=327;ExcessHet=0.2438;FS=3.230;InbreedingCoeff=0.2106;MLEAC=23,1;MLEAF=0.548,0.024;MQ=60.00;MQRankSum=0.00;QD=28.25;ReadPosRankSum=0.231;SOR=0.929	GT:AD:DP:GQ:PL	1/1:0,6,0:6:18:270,18,0,270,18,270	5	7	8	0
chr17	21415358	21415358	C	T	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.C16T:p.R6W,	.	.	387	1134	1	0	0	1	0.000440723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.986	D	0.040	U	1.000	D	1.905	M	0.03	T	-0.273	T	0.373	T	0.503	3.158	16.56	1.92	0.588	0.477	13.825	0.468	0.0769429119803	.	.	0.0004	0.0004	0	0.0005	0	0.0001	0	0.0019	0.0003428	53	154602	rs782819037	9.612e-05	0.0003	7.242e-05	0.0001	0.0009	8.272e-05	7.811e-05	0.0008	0.0007	0.0001	2.238e-05	0	0.0001	0	0.0003	3.778e-05	0.0001	0.0009	0.0002	0.0004	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	0.0003	0	0.0001	0	0.0002	0	0	0.0001	0.0005	0.0025	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.986	0.76916	D	0.039897	0.24120	U	0.295815	0.999633	0.47961	D	2.85	0.82803	M	0.03	0.62183	T	-3.3	0.65858	D	0.519	0.66187	-0.2727	0.75738	T	0.373	0.73175	T	10	0.20611995	0.36862	T	0.076943	0.72652	D	0.468	0.76289	.	.	0.566263476786	0.56289	0.7827122592200036	0.78222	0.406438075735	0.41517	0.630226612091	0.57177	T	0.046739	0.27515	T	0.0441939	0.57593	T	-0.174295	0.57049	T	0.904336750507355	0.55777	D	0.876112	0.58827	D	0.47457573	0.65570	0.4012821	0.64641	0.47457573	0.65571	0.4012821	0.64641	-6.666	0.51554	T	.	.	0.206	0.44240	B	.;.	.;.	4.562965	0.71921	25.7	0.99810150184983093	0.89442	0.86434	0.45713	D	AEFDGBI	0.656639	0.62855	D	0.177295619030289	0.50109	3.204212	0.115782204112393	0.45355	2.800175	0.999991953472621	0.74766	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.33	1.92	0.24912	0.126000	0.15597	1.004000	0.23282	-0.322000	0.05848	0.979000	0.35152	0.999000	0.35428	0.936000	0.47498	0.5672:0.4328:0.0:0.0	13.825	0.62839	856	0.34373	Potassium channel, inwardly rectifying, Kir, N-terminal;Potassium channel, inwardly rectifying, Kir, 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	0.02381	1767.98	292	chr17	21415358	.	C	T	1767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=6656;ExcessHet=0.0000;FS=1.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.16;MQRankSum=-7.056e+00;QD=4.94;ReadPosRankSum=0.331;SOR=0.807	GT:AD:DP:GQ:PL	0/1:272,86:358:99:1782,0,9717	20	0	1	0
chr17	32206965	32206965	T	C	exonic	RHOT1	.	nonsynonymous SNV	RHOT1:NM_001033566:exon17:c.T1472C:p.V491A	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.045	B	0.099	B	0.000	D	1.000	D	1.685	L	0.02	T	-0.790	T	0.196	T	0.563	1.922	12.38	4.56	2.155	2.066	7.529	0.256	0.0166371201288	7.7e-05	0.00139776	0.0009	0	0	0	0	0.0002	0.0033	0.0058	0.0008538	132	154602	rs138851743	0.0006	0.0006	0.0005	0.0007	0.0046	0.0006	0.0005	0.0043	0.0041	3e-05	2.24e-05	3.832e-05	0	0	0.0016	0.0004	0.0005	0.0046	0.0003	0.0003	0.0003	0.0004	0.0062	0.0003	0.0002	0.0045	0.0039	7.216e-05	0	0	0	0	0	0	0.0003	0	0.0062	0.098	0.32929	T	0.123	0.38016	T	0.016	0.21781	B	0.099	0.30579	B	0.000052	0.53742	D	0.163445	1	0.81001	D	2.185	0.61350	M	0.02	0.62318	T	-3.1	0.63782	D	0.322	0.39861	-0.7904	0.55706	T	0.196	0.54985	T	10	0.010995269	0.00242	T	0.016637	0.37992	T	0.256	0.56694	.	.	0.759690669517	0.75750	0.6345731515009615	0.63391	0.71487367527	0.61908	0.547850489616	0.45554	T	0.417837	0.77036	T	-0.306642	0.08047	T	-0.211604	0.53542	T	0.0492299178485417	0.05365	T	0.90121	0.65680	D	0.4260584	0.62493	0.19060078	0.42472	0.4260584	0.62494	0.19060078	0.42471	-10.737	0.81490	D	.	.	0.190	0.51437	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.523557	0.49401	22.8	0.95451264331303054	0.26971	0.88282	0.48140	D	AEFDGBIJ	0.066282	0.12973	N	-0.046330674765726	0.39766	2.350443	0.110858520662703	0.45101	2.779496	0.981931811428335	0.30329	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.635259	0.50027	0	.	.	5.66	4.56	0.55644	2.058000	0.41001	4.957000	0.46318	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.18:0.0:0.82	7.529	0.26837	952	0.10565	MIRO domain;.;.;MIRO domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1160.98	45	chr17	32206965	.	T	C	1160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=860;ExcessHet=0.0000;FS=3.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=1.39;SOR=0.966	GT:AD:DP:GQ:PL	0/1:66,49:115:99:1175,0,1584	20	0	1	0
chr17	35750235	35750235	G	A	exonic	GAS2L2	.	nonsynonymous SNV	GAS2L2:NM_139285:exon2:c.C469T:p.R157W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.938	D	0.027	N	0.999	D	2.495	M	-3.61	D	0.669	D	0.859	D	0.653	3.893	19.79	1.8	0.540	3.267	4.006	0.664	0.173307095203	.	.	1.65e-05	0	8.642e-05	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs782579678	6.158e-06	6.157e-06	1.362e-06	1.1e-05	0.0001	2.9e-06	2.1e-06	5.398e-05	4.044e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.938	0.67350	D	0.027491	0.25748	N	0.334860	0.999102	0.46078	D	2.675	0.78361	M	-3.61	0.95043	D	.	.	.	0.633	0.64733	0.669	0.92786	D	0.859	0.95298	D	10	0.7744996	0.77348	D	0.173307	0.85004	D	.	.	0.724	0.85850	0.968726937471	0.96838	0.6944754438080788	0.69388	.	.	0.711376070976	0.68793	T	0.728254	0.92373	D	0.114852	0.65851	D	0.131	0.78944	D	0.795745448173567	0.46067	D	0.949005	0.81930	D	0.13787499	0.31908	0.12505463	0.30135	0.13787499	0.31908	0.12505463	0.30135	-10.985	0.79577	D	.	.	0.188	0.40473	B	.;.;.	.;.;.	4.685250	0.75020	26.3	0.9991021368416928	0.97949	0.88421	0.48341	D	AEFDBHCIJ	0.497238	0.53184	N	0.425902962031496	0.62850	4.508	0.321723667441635	0.56817	3.84584	0.991456473592574	0.32494	0.59774	0.34471	0	0.563428	0.19063	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	5.11	1.8	0.24069	3.374000	0.52132	3.727000	0.39605	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0794:0.1388:0.5017:0.2801	4.006	0.09092	456	0.79013	Calponin homology domain|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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3613.98	33	chr17	35750235	.	G	A	3613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.198;DP=1250;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-6.310e-01;SOR=0.683	GT:AD:DP:GQ:PL	0/1:119,149:268:99:3628,0,2725	20	0	1	0
chr17	36167565	36167565	G	T	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon12:c.C1060A:p.Q354K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.972	D	0.633	P	0.001	N	0.998	N	-0.08	N	3.07	T	-1.008	T	0.011	T	0.013	-2.289	0.004	.	0.172	0.427	.	0.092	0.00438524663176	.	.	0	.	.	.	.	.	.	.	.	.	.	rs306818	0.0004	0.0034	0.0004	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0002	5.407e-05	0.0010	0.0003	0.0010	0	0.0004	0.0004	2.203e-05	0.0014	0.0045	0.0014	0.0014	0.0025	0.0012	0.0012	0.0014	0.0013	0.0008	0.0088	0.0008	0.0021	0.0005	0.0043	0	0.0017	0	0.0025	.	.	.	0.46	0.12597	T	0.972	0.57405	D	0.633	0.51840	P	0.000949	0.40932	N	0.201240	0.997874	0.22465	N	0.315	0.10303	N	.	.	.	.	.	.	0.037	0.01135	-1.0085	0.27385	T	0.011	0.04274	T	8	0.004332632	0.00088	T	0.004385	0.10687	T	.	.	.	.	0.043077524339	0.03247	0.03486470633420488	0.03433	.	.	0.636937975883	0.58130	T	0.002727	0.02115	T	-0.327125	0.06332	T	-0.707669	0.05416	T	0.0190569054030232	0.00613	T	0.561944	0.19701	T	0.18691014	0.40121	0.09165506	0.21561	0.18691014	0.40121	0.09165506	0.21561	-5.659	0.43327	T	.	.	0.083	0.09385	B	.	.	-0.201008	0.03086	0.485	0.23630957227149563	0.01008	0.00097	0.00633	N	AEFI	0.021065	0.00898	N	-0.975851801036936	0.09121	0.4303983	-1.17772079884045	0.06283	0.3019641	1.18947969782771E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	0.554000	0.23113	-1.524000	0.05246	0.232000	0.18153	0.008000	0.17931	0.000000	0.08366	0.039000	0.14166	.	.	.	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	37.77	13	chr17	36167565	.	G	T	37.77	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.200e+00;DP=181;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0590;MLEAC=1;MLEAF=0.025;MQ=24.74;MQRankSum=2.20;QD=4.20;ReadPosRankSum=-2.200e+00;SOR=0.132	GT:AD:DP:GQ:PL	0/1:7,2:9:51:51,0,148	19	0	1	1
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.796	P	0.741	P	0.000	D	1.000	D	1.91	M	-1.57	D	0.107	D	0.637	D	0.898	4.574	24.8	5.93	2.826	7.818	19.342	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12960.74	97	chr17	37257713	.	C	T	12960.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.586;DP=2083;ExcessHet=54.0936;FS=453.130;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=6.37;ReadPosRankSum=-7.710e-01;SOR=14.039	GT:AD:DP:GQ:PL	0/1:55,60:115:99:602,0,594	0	0	21	0
chr17	37274294	37274294	G	A	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon7:c.C622T:p.R208C	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.019	B	0.064	B	0.021	N	1.000	D	1.445	L	-4.67	D	0.586	D	0.846	D	0.096	2.623	14.73	2.91	0.833	2.247	9.819	0.292	0.0270252479827	.	.	2.473e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs748194912	3.422e-05	3.557e-05	2.724e-05	4.127e-05	0.0002	2.633e-05	2.376e-05	7.999e-05	6.237e-05	0	8.944e-05	0	0	0	0.0002	2.879e-05	1.656e-05	0.0001	5.253e-05	5.25e-05	3.855e-05	6.714e-05	0.0002	2.556e-05	1.829e-05	3.244e-05	1.911e-05	9.63e-05	0	6.536e-05	0	0.0002	0	0	2.94e-05	0	0	.	.	.	0.068	0.44501	T	0.001	0.17989	B	0.003	0.27215	B	0.020802	0.26961	N	0.414749	0.999922	0.51308	D	1.5	0.37844	L	.	.	.	.	.	.	0.279	0.31590	0.586	0.91719	D	0.846	0.94860	D	10	0.16101277	0.30213	T	0.027025	0.49884	D	.	.	0.363	0.36874	0.231005064126	0.22704	0.8395033718791014	0.83910	.	.	0.253177762032	0.04109	T	0.494436	0.81758	T	-0.345826	0.04995	T	-0.50883	0.21437	T	0.185382990510192	0.19568	T	.	.	.	0.08937249	0.20880	0.06216139	0.12118	0.08937249	0.20879	0.06216139	0.12117	-9.153	0.73003	D	.	.	0.073	0.07554	B	.;.;.;.	.;.;.;.	3.569166	0.50261	22.9	0.99353605072807438	0.60697	0.76968	0.37794	D	AEFGBCI	0.279846	0.39380	N	-0.15364468157664	0.35080	2.01042	-0.00822369062392288	0.39343	2.331199	0.999645472450082	0.41316	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	2.91	0.32903	2.298000	0.43262	2.518000	0.33107	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.2231:0.0:0.7769:0.0	9.819	0.40035	693	0.58582	.;.;Biotin carboxylation domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1310.98	36	chr17	37274294	.	G	A	1310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.610e+00;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-1.502e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1325,0,1368	20	0	1	0
chr17	37710610	37710610	T	C	exonic	HNF1B	.	nonsynonymous SNV	HNF1B:NM_000458:exon5:c.A1099G:p.S367G	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Renal cysts and diabetes syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.01	B	0.000	D	1.000	D	1.78	L	-4.44	D	0.453	D	0.822	D	0.261	2.208	13.34	5.7	2.179	3.244	11.095	0.389	0.0606768328108	.	.	4.134e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs752182450	1.984e-05	1.984e-05	8.168e-06	3.163e-05	0.0003	1.392e-05	1.203e-05	0.0002	0.0002	0	0	0	0	0	0	0	3.313e-05	0.0003	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.411	0.23570	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	D	0.036625	0.999891	0.50595	D	0.91	0.23283	L	.	.	.	.	.	.	0.324	0.39962	0.453	0.89879	D	0.822	0.94026	D	10	0.14148974	0.26883	T	0.060677	0.68080	D	.	.	0.468	0.54052	0.403974779092	0.40011	0.6134989243307271	0.61281	.	.	0.456156849861	0.32785	T	0.497043	0.81908	T	-0.310914	0.07669	T	-0.379835	0.35741	T	0.13492747168581	0.15830	T	.	.	.	0.34695324	0.56829	0.42662102	0.66433	0.34695324	0.56830	0.42662102	0.66433	-4.95	0.36720	T	.	.	0.080	0.19919	B	.;.;.;.;.	.;.;.;.;.	3.243004	0.44281	21.9	0.99256783788431835	0.57055	0.86664	0.45993	D	ALL	0.577430	0.57903	D	-0.0910221782393488	0.37786	2.203382	0.0990115258372517	0.44500	2.730507	0.999999999999999	0.74766	0.556989	0.30585	1	0.487994	0.07600	2	0.488094	0.07640	1	0.616919	0.45865	0	.	.	5.7	5.7	0.88690	3.252000	0.51162	7.900000	0.73503	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0741:0.0:0.9259	11.095	0.47359	0	0.99858	Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1302.98	33	chr17	37710610	.	T	C	1302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.617;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-3.310e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:50,52:102:99:1317,0,1225	20	0	1	0
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3885.87	242	chr17	41041286	.	G	T,*	3885.87	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=2.73;DP=3812;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=59.30;MQRankSum=-1.165e+01;QD=1.29;ReadPosRankSum=4.68;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:276,28,0:304:99:0|1:41041286_G_T:345,0,11092,1176,11177,12352:41041286	10	0	10	0
chr17	41041297	41041297	G	0	exonic	KRTAP1-1	.	.	.	.	.	0	91	122	0	13	135	0.401316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2306.36	255	chr17	41041297	.	G	*,C	2306.36	.	AC=1,9;AF=0.025,0.225;AN=40;BaseQRankSum=2.19;DP=3862;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3496;MLEAC=1,10;MLEAF=0.025,0.250;MQ=59.29;MQRankSum=-1.141e+01;QD=0.84;ReadPosRankSum=4.87;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:270,0,28:298:99:0|1:41041286_G_T:363,1176,12144,0,10969,10884:41041286	10	0	1	1
chr17	41041341	41041341	G	0	exonic	KRTAP1-1;KRTAP9-7	.	.	.	.	.	423	805	280	0	14	294	0.148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	2496.32	253	chr17	41041341	.	G	T,*	2496.32	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.535;DP=3198;ExcessHet=3.5521;FS=0.766;InbreedingCoeff=-0.2364;MLEAC=7,1;MLEAF=0.167,0.024;MQ=59.31;MQRankSum=-1.146e+01;QD=1.14;ReadPosRankSum=-1.843e+00;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:270,25,0:295:99:.:.:100,0,10822,912,10898,11810	13	0	7	0
chr17	41255418	41255418	-	ACATGCTGCAGGACC	exonic	KRTAP9-9	.	nonframeshift insertion	KRTAP9-9:NM_030975:exon1:c.33_34insACATGCTGCAGGACC:p.C18_W19insCRTTC,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0003	0.0004	0	0.0002	0	0.0016	.	.	.	.	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	9.887e-05	0	0.0006	0	0.0003	9.047e-05	0.0002	0.0006	0.0003	0.0002	0.0002	0.0004	0.0009	0.0002	0.0002	0.0003	0.0003	9.301e-05	0	0	0	0	0	0	0.0006	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	31242.72	98	chr17	41255418	.	T	TACCTGCTGCAGGACC,TACATGCTGCAGGACC	31242.72	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.14;DP=2539;ExcessHet=0.0001;FS=5.599;InbreedingCoeff=0.7311;MLEAC=26,1;MLEAF=0.619,0.024;MQ=52.57;MQRankSum=-1.273e+00;QD=33.81;ReadPosRankSum=-3.744e+00;SOR=1.018	GT:AD:DP:GQ:PL	1/1:0,67,0:67:99:2846,196,0,2852,201,2857	6	11	3	0
chr17	42585200	42585200	G	A	exonic	RETREG3	.	nonsynonymous SNV	RETREG3:NM_178126:exon6:c.C652T:p.R218W,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.007	B	0.003	B	0.000	N	0.640	D	0.97	L	0.73	T	-1.074	T	0.071	T	0.222	2.969	15.90	-1.38	0.107	1.211	5.442	0.062	0.0113516658516	7.7e-05	.	4.128e-05	9.654e-05	0	0	0	1.502e-05	0.0011	0.0001	3.23e-05	5	154602	rs141899496	3.216e-05	3.215e-05	2.723e-05	3.713e-05	0.0003	2.478e-05	2.221e-05	7.997e-05	6.236e-05	0	4.472e-05	0	0	1.88e-05	0.0003	2.338e-05	6.623e-05	0.0001	2.629e-05	2.627e-05	2.57e-05	2.69e-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	0.032	0.44694	D	0.08	0.41913	T	0.007	0.14184	B	0.003	0.08700	B	0.000102	0.50451	N	0.198275	0.639631	0.32864	D	.	.	.	0.73	0.50721	T	-3.8	0.71762	D	0.217	0.24260	-1.0739	0.08577	T	0.071	0.28936	T	10	0.18567318	0.33998	T	0.011352	0.28886	T	0.062	0.17934	.	.	0.62963637804	0.62661	0.7292832344568468	0.72873	0.141534643291	0.15957	0.366162985563	0.20280	T	0.257642	0.62870	T	-0.36192	0.04022	T	-0.48335	0.24090	T	0.128796949592394	0.15269	T	0.870113	0.57669	D	0.17021275	0.37583	0.16731478	0.38607	0.17021275	0.37582	0.16731478	0.38606	-5.936	0.45741	T	.	.	0.077	0.06387	B	.;.	.;.	2.619339	0.34034	19.51	0.98761628478383401	0.45816	0.80801	0.40347	D	AEFGBI	0.534146	0.55331	D	-0.600941943430809	0.18916	0.9859436	-0.47928621528193	0.22725	1.235741	0.999987349774759	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	-1.38	0.08554	1.223000	0.32131	-0.069000	0.12322	-0.119000	0.14319	0.819000	0.29975	0.000000	0.08366	0.997000	0.79791	0.2934:0.0:0.3853:0.3213	5.442	0.15813	207	0.91931	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2270.98	40	chr17	42585200	.	G	A	2270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=1031;ExcessHet=0.0000;FS=1.183;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.742;SOR=0.574	GT:AD:DP:GQ:PL	0/1:81,94:175:99:2285,0,1810	20	0	1	0
chr17	44075448	44075448	C	G	exonic	G6PC3	.	nonsynonymous SNV	G6PC3:NM_001319945:exon4:c.C555G:p.F185L	Dursun syndrome, Autosomal recessive;Neutropenia, severe congenital 4, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	646077	Autosomal_recessive_severe_congenital_neutropenia_due_to_G6PC3_deficiency|not_provided	MONDO:MONDO:0012930,MedGen:C2751630,OMIM:612541,Orphanet:331176|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.998	D	0.87	P	0.000	D	1.000	D	1.385	L	-1.19	T	-0.160	T	0.468	T	0.621	3.769	19.14	5.4	2.818	0.967	12.253	0.392	0.138668397353	.	.	5.766e-05	0	8.637e-05	0	0	0	0.0022	0.0002	4.53e-05	7	154602	rs748442084	2.052e-05	2.052e-05	8.167e-06	3.3e-05	0.0003	1.456e-05	1.264e-05	0.0002	0.0002	0	0	0	0	0	0.0002	0	1.656e-05	0.0003	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.092	0.31682	T	0.089	0.41742	T	0.998	0.73220	D	0.87	0.61806	P	0.000016	0.62929	D	0.116963	0.999553	0.47544	D	1.24	0.30952	L	-1.19	0.78427	T	-1.68	0.40082	N	0.468	0.50418	-0.1600	0.78671	T	0.468	0.79503	T	10	0.4047981	0.55817	T	0.138668	0.82116	D	0.392	0.70764	0.472	0.54699	0.818344994045	0.81663	0.4343471302665221	0.43351	0.870047324024	0.69367	0.548586666584	0.45658	T	0.455172	0.79443	T	-0.143806	0.29286	T	-0.152195	0.59048	T	0.593245267868042	0.36134	D	0.729427	0.46271	T	0.123832405	0.29069	0.08757043	0.20363	0.123832405	0.29069	0.08757043	0.20362	-10.784	0.78460	D	0.6271685244747202	0.69615	0.243	0.52696	B	.;.	.;.	4.488142	0.70083	25.5	0.98869831370796768	0.47632	0.38728	0.26054	N	AEFGBCI	0.235429	0.35803	N	0.3756152218726	0.60102	4.195729	0.352009135359422	0.58628	4.034538	0.99998680396493	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	0.945000	0.28654	7.727000	0.67598	0.599000	0.40250	0.004000	0.16614	1.000000	0.68203	0.990000	0.65344	0.0:0.8295:0.1705:0.0	12.253	0.53923	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2033.98	34	chr17	44075448	.	C	G	2033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.974;DP=896;ExcessHet=0.0000;FS=1.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-2.830e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/1:84,80:164:99:2048,0,1966	20	0	1	0
chr17	48121356	48121356	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C637A:p.P213T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.001	B	0.001	B	0.519	N	1.000	N	1.39	L	-0.11	T	-0.942	T	0.149	T	0.222	2.276	13.57	1.38	0.459	0.170	3.471	0.043	0.0159330116532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.72154	D	0.047	0.48855	D	0.0	0.02946	B	0.001	0.04355	B	0.519184	0.11761	N	0.791293	1	0.08975	N	0.83	0.20963	L	-0.12	0.64630	T	-2.48	0.54059	N	0.051	0.07535	-0.9422	0.42266	T	0.149	0.47646	T	10	0.05349794	0.05550	T	0.015933	0.36930	T	0.043	0.11576	0.245	0.17984	0.484037581386	0.48037	0.20804343813926002	0.20720	0.119574652239	0.13463	0.277193725109	0.07105	T	0.018771	0.15074	T	-0.154878	0.27551	T	-0.460248	0.26572	T	0.0746949621828903	0.09294	T	0.636336	0.25296	T	0.056769192	0.11213	0.04533935	0.06077	0.056769192	0.11213	0.04533935	0.06077	-4.775	0.34298	T	.	.	0.086	0.10449	B	.;.;.;.;.;.	.;.;.;.;.;.	1.571688	0.20120	14.60	0.88267484273534103	0.17844	0.12360	0.17221	N	AEFBCI	0.058696	0.11030	N	-0.874749041110592	0.11446	0.5523798	-0.865441052805161	0.12917	0.6672158	1.15678767451762E-4	0.05269	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	1.38	0.21262	0.184000	0.16748	-0.242000	0.10582	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.702000	0.34203	0.1396:0.5611:0.1359:0.1634	3.471	0.07134	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	183.11	33	chr17	48121356	.	C	A	183.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.254e+00;DP=1038;ExcessHet=0.1072;FS=125.490;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.50;ReadPosRankSum=2.61;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,19:196:99:0|1:48121356_C_A:133,0,7230:48121356	19	0	2	0
chr17	48121357	48121357	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C638A:p.P213H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.043	B	0.01	B	0.519	N	1.000	N	1.39	L	-0.16	T	-0.860	T	0.190	T	0.245	3.061	16.22	4.07	1.609	0.183	11.497	0.103	0.0380915237209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.006	0.70582	D	0.003	0.11197	B	0.006	0.12133	B	0.519184	0.11761	N	0.791293	1	0.08975	N	1.525	0.38595	L	-0.16	0.65378	T	-1.8	0.42384	N	0.072	0.07811	-0.8604	0.51234	T	0.190	0.54108	T	10	0.08495718	0.14292	T	0.038092	0.58018	D	0.103	0.29403	0.238	0.16912	0.628906646486	0.62587	0.19977760881024514	0.19894	0.348915321359	0.36754	0.285802483559	0.08314	T	0.020125	0.15899	T	-0.0926007	0.37648	T	-0.370791	0.36796	T	0.627367913722992	0.37509	D	0.654835	0.26791	T	0.122885406	0.28868	0.19311786	0.42863	0.122885406	0.28867	0.19311786	0.42862	-5.551	0.42342	T	.	.	0.126	0.26731	B	.;.;.;.;.;.	.;.;.;.;.;.	2.348791	0.30108	18.34	0.98115172472137657	0.38383	0.09630	0.15343	N	AEFBCI	0.042106	0.06491	N	-0.555678256585635	0.20306	1.069478	-0.525915723664836	0.21451	1.160465	0.00168031574263526	0.08770	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	4.07	0.46726	0.201000	0.17074	1.213000	0.24921	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.687000	0.33748	0.3268:0.6732:0.0:0.0	11.497	0.49664	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	183.11	33	chr17	48121357	.	C	A	183.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.150e-01;DP=1039;ExcessHet=0.1072;FS=125.490;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.50;ReadPosRankSum=2.58;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,19:196:99:0|1:48121356_C_A:133,0,7230:48121356	19	0	2	0
chr17	50353853	50353853	G	A	exonic	XYLT2	.	nonsynonymous SNV	XYLT2:NM_022167:exon2:c.G359A:p.R120H,	Spondyloocular syndrome, Autosomal recessive	.	406	1112	3	1	0	5	0.00224316	.	.	704219	Osteogenesis_imperfecta|not_provided|XYLT2-related_disorder	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.006	B	0.001	B	0.000	D	0.898	D	0.69	N	3.59	T	-0.993	T	0.011	T	0.128	2.257	13.50	4.38	2.286	1.483	8.656	0.183	.	0.0067	0.00259585	0.0087	0.0025	0.0033	0	0.0089	0.0138	0.0063	0.0007	0.0053816	832	154602	rs145954495	0.0069	0.0069	0.0071	0.0066	0.0083	0.0068	0.0067	0.0081	0.0081	0.0010	0.0028	0.0009	5.075e-05	0.0058	0.0010	0.0083	0.0045	0.0009	0.0051	0.0051	0.0055	0.0046	0.0086	0.0048	0.0046	0.0080	0.0078	0.0014	0.0132	0.0028	0	0	0.0062	0	0.0086	0.0028	0.0004	0.085	0.32769	T	0.066	0.47336	T	0.006	0.13644	B	0.001	0.04355	B	0.000009	0.62929	D	0.116067	0.897779	0.36099	D	0.665	0.16292	N	3.59	0.08810	T	0.02	0.07299	N	0.189	0.20660	-0.9925	0.31959	T	0.011	0.04042	T	10	0.0050898492	0.00110	T	.	.	.	0.183	0.45592	.	.	0.154104182512	0.14974	0.1832588949246109	0.18244	0.514521517315	0.49394	0.683131456375	0.64717	T	0.054186	0.29652	T	-0.625774	0.00102	T	-0.664408	0.07972	T	0.01238613396136	0.00202	T	0.878012	0.60121	D	0.06173446	0.12818	0.03941164	0.04027	0.06534882	0.13957	0.03941164	0.04026	-4.995	0.36786	T	0.21769232335749944	0.29303	0.101	0.17615	B	.;.	.;.	3.918577	0.57191	23.8	0.99691822765160176	0.79977	0.85361	0.44486	D	AEFDBCI	0.299699	0.40869	N	-0.302589738578482	0.29050	1.607545	-0.134123289503132	0.34024	1.95263	0.994266792254848	0.33559	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.38	4.38	0.52019	1.906000	0.39518	9.720000	0.81362	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1587:0.0:0.8413:0.0	8.656	0.33226	930	0.16408	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1714.98	33	chr17	50353853	.	G	A	1714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.649;DP=852;ExcessHet=0.0000;FS=6.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=1.34;SOR=1.259	GT:AD:DP:GQ:PL	0/1:62,68:130:99:1729,0,1485	20	0	1	0
chr17	57979244	57979258	TGCTGCTGCTGCTGC	-	exonic	VEZF1	.	nonframeshift deletion	VEZF1:NM_007146:exon5:c.1032_1046del:p.Q350_Q354del	.	.	.	.	.	.	.	.	.	.	.	2808061	VEZF1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1173190330	0.0032	0.0032	0.0032	0.0031	0.0036	0.0031	0.0031	0.0035	0.0034	0.0009	0.0013	0.0033	0.0004	0.0011	0.0014	0.0036	0.0023	0.0032	0.0022	0.0022	0.0024	0.0020	0.0042	0.0020	0.0019	0.0028	0.0027	0.0010	0.0022	0.0008	0.0041	0.0008	0.0017	0.0034	0.0032	0.0014	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/3:67,0,0,51:123:99:1845,2174,5146,2174,5146,5146,0,2528,2528,2251	15	1	1	0
chr17	57979256	57979258	TGC	-	exonic	VEZF1	.	nonframeshift deletion	VEZF1:NM_007146:exon5:c.1032_1034del:p.Q354del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/3:67,0,0,51:123:99:1845,2174,5146,2174,5146,5146,0,2528,2528,2251	15	1	1	0
chr17	57979258	57979258	-	TGC	exonic	VEZF1	.	nonframeshift insertion	VEZF1:NM_007146:exon5:c.1031_1032insGCA:p.Q354_H355insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/3:67,0,0,51:123:99:1845,2174,5146,2174,5146,5146,0,2528,2528,2251	15	1	1	0
chr17	62010836	62010836	A	G	exonic	MED13	.	nonsynonymous SNV	MED13:NM_005121:exon9:c.T1681C:p.Y561H,	.	.	422	1095	5	0	0	5	0.0022779	.	.	3212295	MED13-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.994	D	0.000	D	1.000	D	1.975	M	-0.91	T	-0.155	T	0.504	D	0.295	1.569	11.20	4.94	1.087	8.129	12.221	0.373	0.0766067936641	8.3e-05	0.000199681	0.0003	0	0.0003	0	0	0.0001	0.0011	0.0012	0.000207	32	154602	rs373796910	0.0002	0.0002	0.0001	0.0002	0.0033	0.0002	0.0001	0.0022	0.0018	0	8.944e-05	0	0	0	0.0033	5.306e-05	0.0004	0.0016	0.0001	0.0001	0.0001	0.0001	0.0012	8.162e-05	6.719e-05	0.0005	0.0004	2.406e-05	0	0.0003	0	0	0	0	7.349e-05	0.0009	0.0012	0.026	0.46910	D	0.001	0.83351	D	0.999	0.77913	D	0.994	0.82059	D	0.000006	0.62929	D	0.110970	0.999984	0.54805	D	2.165	0.60562	M	-0.91	0.75001	T	-1.41	0.34795	N	0.774	0.77132	-0.1546	0.78803	T	0.504	0.81295	D	10	0.25547162	0.42940	T	0.076607	0.72573	D	0.373	0.69188	.	.	0.424463159835	0.42065	0.4099128670844817	0.40907	0.840773140511	0.68051	0.792129397392	0.80767	T	0.225351	0.59005	T	-0.297553	0.08893	T	-0.219205	0.52814	T	0.0935145069661999	0.11628	T	0.929307	0.73951	D	0.12230217	0.28743	0.109002374	0.26264	0.12230217	0.28743	0.109002374	0.26263	-3.262	0.13252	T	.	.	0.322	0.54653	B	.	.	4.597109	0.72769	25.9	0.95017384593321652	0.25998	0.98965	0.89272	D	AEDGBI	0.855953	0.77312	D	0.264548452038356	0.54362	3.601987	0.332133515729618	0.57437	3.909442	0.862688314009017	0.25256	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.02	4.94	0.64645	8.185000	0.89651	9.290000	0.79784	-0.065000	0.16512	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9337:0.0:0.0663:0.0	12.221	0.53745	233	0.90919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2324.98	40	chr17	62010836	.	A	G	2324.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.08;DP=854;ExcessHet=0.0000;FS=2.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=1.23;SOR=0.725	GT:AD:DP:GQ:PL	0/1:77,77:154:99:2339,0,2069	20	0	1	0
chr17	62690725	62690725	C	T	exonic	MRC2	.	nonsynonymous SNV	MRC2:NM_006039:exon27:c.C3976T:p.R1326W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.926	D	0.032	N	0.983	D	1.935	M	2.13	T	-1.070	T	0.090	T	0.599	3.592	18.29	3.11	2.134	0.397	6.284	0.204	0.0125535380362	.	.	2.575e-05	0	0	0	0	1.543e-05	0	0.0001	1.94e-05	3	154602	rs182449556	5.617e-05	5.609e-05	5.18e-05	6.059e-05	0.0002	4.616e-05	4.242e-05	9.838e-05	7.874e-05	0	2.256e-05	0	0	0	0	5.579e-05	8.291e-05	0.0002	3.285e-05	3.283e-05	1.285e-05	5.381e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.41e-05	0	0.0002	0.01	0.63226	D	0.023	0.64786	D	0.998	0.90584	D	0.88	0.66095	P	0.032208	0.25061	N	0.377312	0.982808	0.39936	D	1.07	0.27075	L	2.13	0.19588	T	-2.66	0.69950	D	0.33	0.50508	-1.0702	0.09370	T	0.090	0.34655	T	10	0.242055	0.41394	T	0.012554	0.31222	T	0.204	0.49076	.	.	0.292174397486	0.28832	.	.	0.405131685381	0.41401	0.437565952539	0.30245	T	0.230466	0.59654	T	-0.266327	0.12170	T	-0.383668	0.35292	T	0.330849346964283	0.26259	T	0.931607	0.74555	D	0.15653433	0.35320	0.10675124	0.25688	0.15653433	0.35319	0.10675124	0.25688	-7.168	0.55251	T	.	.	0.126	0.36614	B	.;.	.;.	4.109018	0.61334	24.3	0.99917325129933121	0.98518	0.63612	0.32144	D	AEFBCI	0.487707	0.52634	N	0.39592288243726	0.61201	4.318025	0.327674539758301	0.57172	3.882067	3.66130926514905E-4	0.06707	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.14	3.11	0.34883	0.478000	0.21922	1.473000	0.26767	0.524000	0.24156	0.982000	0.35529	0.982000	0.30508	0.978000	0.57271	0.3617:0.4828:0.1554:0.0	6.284	0.20229	552	0.72024	C-type lectin-like|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1400.98	43	chr17	62690725	.	C	T	1400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.420e-01;DP=913;ExcessHet=0.0000;FS=1.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-4.190e-01;SOR=0.550	GT:AD:DP:GQ:PL	0/1:46,58:104:99:1415,0,1072	20	0	1	0
chr17	63821099	63821099	C	T	exonic	FTSJ3	.	nonsynonymous SNV	FTSJ3:NM_017647:exon17:c.G1903A:p.G635S,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.001	B	0.018	B	0.054	N	1.000	N	0	N	1.58	T	-0.997	T	0.026	T	0.116	1.825	12.06	-0.723	-0.226	-0.134	4.568	0.025	0.0117991507534	0.0015	0.000599042	0.0012	9.617e-05	0.0011	0	0	0.0018	0.0022	6.056e-05	0.0011902	184	154602	rs141577537	0.0016	0.0016	0.0016	0.0015	0.0023	0.0015	0.0015	0.0018	0.0018	0.0002	0.0016	0	2.519e-05	0.0002	0.0023	0.0019	0.0014	0.0002	0.0011	0.0011	0.0013	0.0008	0.0025	0.0009	0.0009	0.0019	0.0016	0.0003	0	0.0025	0	0	0	0.0102	0.0015	0.0009	0.0004	0.112	0.28900	T	0.223	0.25670	T	0.001	0.07471	B	0.018	0.18489	B	0.053740	0.22783	N	0.451424	1	0.08975	N	-0.69	0.01958	N	1.58	0.29085	T	-0.9	0.24244	N	0.133	0.12913	-0.9965	0.30892	T	0.026	0.11043	T	10	0.0062654614	0.00141	T	0.011799	0.29782	T	0.025	0.05312	.	.	0.0954503805726	0.09146	0.18640597565947625	0.18558	0.121329938237	0.13659	0.279026985168	0.07357	T	0.004547	0.03958	T	-0.634101	0.00090	T	-0.68761	0.06529	T	0.0098035085188515	0.00129	T	0.662834	0.27173	T	0.05132606	0.09410	0.036287997	0.03045	0.05132606	0.09410	0.036287997	0.03044	-3.207	0.12567	T	.	.	0.091	0.13315	B	.	.	0.540778	0.09093	5.877	0.80731038771122732	0.13342	0.26645	0.23052	N	AEFBHCI	0.096506	0.19480	N	-1.24828473503414	0.04323	0.1948577	-1.24639359731755	0.05185	0.2464233	0.999987612497294	0.51787	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.86	-0.723	0.10617	-0.430000	0.07043	-1.739000	0.04815	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.4971:0.1527:0.3502	4.568	0.11590	856	0.34373	Ribosomal RNA methyltransferase, Spb1, 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	1	0	0	0	0.02381	1718.98	35	chr17	63821099	.	C	T	1718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.140e-01;DP=872;ExcessHet=0.0000;FS=0.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=-4.210e-01;SOR=0.774	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1733,0,1944	20	0	1	0
chr17	73387941	73387941	G	C	exonic	SDK2	.	nonsynonymous SNV	SDK2:NM_001144952:exon30:c.C4289G:p.S1430C,	.	.	425	1081	15	1	0	17	0.00780174	.	.	3221649	SDK2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.739	P	0.534	P	0.000	D	1.000	D	2.725	M	0.49	T	-0.781	T	0.035	T	0.371	3.863	19.63	4.61	2.116	9.119	17.021	0.486	.	0.0059	0.0257588	0.0177	0.0343	0.0049	0.1610	0.0154	0.0016	0.0063	0.0077	0.0075355	1165	154602	rs2270724	0.0036	0.0036	0.0036	0.0035	0.0782	0.0035	0.0034	0.0758	0.0749	0.0204	0.0012	0.0040	0.0782	0.0050	0.0060	0.0003	0.0060	0.0049	0.0092	0.0092	0.0084	0.0099	0.0873	0.0088	0.0086	0.0806	0.0780	0.0183	0	0.0022	0.0037	0.0873	0.0062	0	0.0003	0.0080	0.0062	0.003	0.68238	D	0.0	0.92824	D	0.739	0.42933	P	0.534	0.48679	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.085	0.87354	M	0.49	0.55775	T	-3.42	0.68880	D	0.891	0.89020	-0.7810	0.56246	T	0.035	0.14943	T	10	0.0038103163	0.00071	T	.	.	.	0.486	0.77464	.	.	0.738802388025	0.73646	0.5958097826839873	0.59510	0.352155026023	0.37058	0.680533111095	0.64345	T	0.166649	0.51297	T	-0.347331	0.04897	T	-0.20402	0.54265	T	0.0725339815045578	0.09002	T	0.914109	0.69400	D	0.50747746	0.67532	0.35324672	0.60889	0.50747746	0.67533	0.35324672	0.60889	-13.705	0.92058	D	.	.	0.493	0.69448	A	.;.	.;.	4.619927	0.73354	26.0	0.99101227642148582	0.52471	0.99622	0.98079	D	AEFDGBI	0.869338	0.78981	D	0.4893290483055	0.66463	4.953683	0.521166715714731	0.69415	5.357315	0.999999890296304	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.61	4.61	0.56724	9.330000	0.96411	11.497000	0.92950	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	17.021	0.86306	467	0.78285	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	781.98	35	chr17	73387941	.	G	C	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.679e+00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.90;ReadPosRankSum=-2.083e+00;SOR=0.756	GT:AD:DP:GQ:PL	0/1:43,36:79:99:796,0,1192	20	0	1	0
chr17	74729265	74729265	G	T	exonic	RAB37	.	nonsynonymous SNV	RAB37:NM_175738:exon2:c.G82T:p.V28L,	.	.	435	1061	25	1	0	27	0.012564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.01	B	0.019	B	.	.	1.000	D	-0.305	N	-1.03	T	-0.746	T	0.225	T	0.431	2.507	14.34	5.09	2.400	7.164	16.350	0.306	0.0689948728007	0.0005	0.000599042	0.0009	0.0002	0.0021	0	0	0.0012	0.0033	0.0004	0.0009379	145	154602	rs140336944	0.0007	0.0007	0.0006	0.0007	0.0170	0.0006	0.0006	0.0143	0.0133	0.0010	0.0014	0.0022	0	1.872e-05	0.0170	0.0005	0.0014	0.0006	0.0008	0.0008	0.0008	0.0008	0.0020	0.0007	0.0006	0.0015	0.0013	0.0003	0	0.0020	0.0035	0	0	0.0136	0.0008	0.0038	0.0004	0.526	0.08067	T	0.251	0.23638	T	0.004	0.12183	B	0.01	0.14941	B	.	.	.	.	0.726816	0.29868	N	.	.	.	-1.03	0.76430	T	0.65	0.02332	N	0.636	0.66358	-0.7455	0.58170	T	0.225	0.58982	T	9	0.044011146	0.03312	T	0.068995	0.70606	D	0.306	0.62729	0.668	0.80602	0.557953424633	0.55455	.	.	.	.	.	.	.	.	.	.	-0.290497	0.09587	T	-0.220135	0.52724	T	0.0432263566364833	0.04278	T	0.950905	0.81786	D	.	.	.	.	.	.	.	.	-3.385	0.14855	T	.	.	0.461	0.62767	A	.;.	.;.	2.323430	0.29754	18.22	0.98899618855865357	0.48163	0.97683	0.76388	D	AEFGBI	0.853886	0.77088	D	-0.0638143658952433	0.38988	2.292037	0.170692603264838	0.48248	3.04338	0.999999999964245	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	7.362000	0.78764	6.482000	0.55739	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	16.350	0.83035	586	0.69252	Small GTP-binding protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1449.98	36	chr17	74729265	.	G	T	1449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.328e+00;DP=821;ExcessHet=0.0000;FS=0.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.093e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/1:64,62:126:99:1464,0,1610	20	0	1	0
chr17	75749023	75749023	C	0	exonic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	718.03	79	chr17	75749023	.	C	T,*	718.03	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=-5.624e+00;DP=1348;ExcessHet=0.1072;FS=217.263;InbreedingCoeff=-0.1201;MLEAC=1,1;MLEAF=0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=2.92;ReadPosRankSum=4.14;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,36,0:134:99:0|1:75749023_C_T:730,0,3631,1022,3736,4759:75749023	14	0	1	5
chr17	75749025	75749025	C	G	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon26:c.C3296G:p.T1099S	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.763	P	0.000	D	0.998	D	0.975	L	1.41	T	-1.056	T	0.091	T	0.272	0.604	7.256	4.26	1.192	2.964	10.148	0.068	0.0303834520516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.424e-05	0.0015	9.185e-05	7.66e-05	9.909e-05	7.176e-05	6.712e-05	8.354e-05	7.787e-05	9.227e-05	0	0	0	0	0	9.909e-05	8.496e-05	5.863e-05	3.31e-05	6.589e-05	1.294e-05	5.42e-05	0.0002	1.268e-05	8.03e-06	4.91e-06	1.84e-06	2.421e-05	0	0	0	0	9.634e-05	0	2.956e-05	0	0.0002	0.002	0.72154	D	0.01	0.66756	D	0.902	0.56408	P	0.585	0.56556	P	0.000127	0.49741	D	0.135690	0.99842	0.44899	D	1.7	0.43825	L	1.41	0.33412	T	-1.84	0.43149	N	0.548	0.57433	-1.0563	0.12698	T	0.091	0.34820	T	10	0.48247474	0.60513	T	0.030383	0.52709	D	0.068	0.19811	0.275	0.22687	0.769952734743	0.76784	0.5578496369941545	0.55711	0.292936544315	0.31716	0.440746605396	0.30679	T	0.17119	0.51922	T	-0.14281	0.29444	T	-0.442913	0.28482	T	0.830028891563416	0.48532	D	0.711829	0.32778	T	0.48351398	0.66113	0.23997939	0.49361	0.48351398	0.66113	0.23997939	0.49360	-5.715	0.44338	T	0.5097648672697275	0.58368	0.123	0.25882	B	.;.;.;.	.;.;.;.	3.029679	0.40581	21.2	0.38500852697330945	0.02600	0.97196	0.73256	D	AEFBI	0.571759	0.57561	D	0.0815504541283303	0.45603	2.814062	0.0276339862330141	0.41003	2.45617	0.997117847965658	0.35288	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	5.24	4.26	0.49832	3.022000	0.49342	5.871000	0.50535	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.026000	0.12556	0.0:0.7874:0.1385:0.0741	10.148	0.41952	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	1195.72	80	chr17	75749025	.	C	G,*	1195.72	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-3.858e+00;DP=1686;ExcessHet=0.3300;FS=363.745;InbreedingCoeff=-0.2923;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.49;ReadPosRankSum=3.95;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:98,26,0:132:99:.:.:660,0,3665,676,3760,4372	5	0	2	13
chr17	75749025	75749025	C	0	exonic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1195.72	80	chr17	75749025	.	C	G,*	1195.72	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-3.858e+00;DP=1686;ExcessHet=0.3300;FS=363.745;InbreedingCoeff=-0.2923;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.49;ReadPosRankSum=3.95;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:98,26,0:132:99:.:.:660,0,3665,676,3760,4372	5	0	2	13
chr17	75749026	75749026	C	0	exonic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1267.21	80	chr17	75749026	.	C	G,*	1267.21	.	AC=2,1;AF=0.111,0.056;AN=18;BaseQRankSum=-3.986e+00;DP=1663;ExcessHet=0.3300;FS=369.875;InbreedingCoeff=-0.2730;MLEAC=3,2;MLEAF=0.167,0.111;MQ=60.00;MQRankSum=0.00;QD=3.60;ReadPosRankSum=4.10;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,36,0:133:99:0|1:75749023_C_T:733,0,3598,1022,3704,4726:75749023	6	0	2	12
chr17	75749027	75749027	A	G	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon26:c.A3298G:p.I1100V	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.001	B	0.005	B	0.065	N	1.000	N	-0.255	N	1.86	T	-0.961	T	0.021	T	0.111	-0.309	2.530	-1.46	-0.019	0.434	10.078	0.009	0.0093230332651	.	.	8.858e-06	0	0	0	0	0	0	6.332e-05	6.5e-06	1	154602	rs754732749	7.125e-06	0.0003	8.531e-06	5.712e-06	3.103e-05	3.6e-06	2.63e-06	3.9e-06	1.76e-06	3.103e-05	0	0	0	0	0	6.562e-06	0	2.349e-05	0	6.661e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.849	0.02746	T	0.809	0.04181	T	0.0	0.07471	B	0.002	0.11217	B	0.065166	0.21900	N	0.445414	0.999584	0.20930	N	-1.15	0.00907	N	1.86	0.24285	T	-0.03	0.07444	N	0.247	0.30233	-0.9613	0.38936	T	0.021	0.08824	T	10	0.033866435	0.01575	T	0.009323	0.24459	T	0.009	0.00846	0.347	0.34274	0.238705975628	0.23479	0.35367653431977275	0.35281	0.239067160317	0.26460	0.284727245569	0.08161	T	0.053934	0.29583	T	-0.388524	0.02750	T	-0.695234	0.06090	T	0.0165865860176989	0.00419	T	0.564644	0.19916	T	0.041757572	0.06208	0.027220517	0.00859	0.041757572	0.06208	0.027220517	0.00859	-3.025	0.10719	T	0.07366712146606559	0.03127	0.061	0.02285	B	.;.;.;.	.;.;.;.	-0.703055	0.01314	0.071	0.21339881658324758	0.00809	0.01218	0.04323	N	AEFBI	0.107465	0.21410	N	-1.52727890269447	0.01672	0.07316043	-1.46805690100194	0.02610	0.1203548	0.806248547502662	0.24275	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	5.24	-1.46	0.08338	0.466000	0.21731	-0.520000	0.08695	-1.306000	0.01239	0.111000	0.23011	0.000000	0.08366	0.026000	0.12556	0.5122:0.0:0.4878:0.0	10.078	0.41546	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1875	1272.43	80	chr17	75749027	.	A	G,*	1272.43	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-2.281e+00;DP=1730;ExcessHet=0.3300;FS=368.723;InbreedingCoeff=-0.3049;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=3.98;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,36,0:132:99:0|1:75749023_C_T:736,0,3561,1022,3667,4689:75749023	5	0	2	13
chr17	75749027	75749027	A	0	exonic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1272.43	80	chr17	75749027	.	A	G,*	1272.43	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-2.281e+00;DP=1730;ExcessHet=0.3300;FS=368.723;InbreedingCoeff=-0.3049;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=3.98;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,36,0:132:99:0|1:75749023_C_T:736,0,3561,1022,3667,4689:75749023	5	0	2	13
chr17	76293040	76293040	G	T	exonic	QRICH2	.	nonsynonymous SNV	QRICH2:NM_032134:exon4:c.C1189A:p.P397T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.999	D	.	.	1.000	N	2.05	M	3.06	T	-1.103	T	0.054	T	0.342	2.404	14.00	2.63	2.229	0.342	8.124	0.069	0.00909022539385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.005	0.72224	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.999905	0.19694	N	2.8	0.81625	M	3.06	0.08634	T	-3.8	0.71762	D	0.23	0.25867	-1.1033	0.03714	T	0.054	0.22731	T	9	0.2626834	0.43738	T	0.00909	0.23917	T	0.069	0.20116	0.313	0.28774	0.119812018005	0.11559	0.09347663894107576	0.09279	0.7053372141	0.61386	0.237684071064	0.02586	T	0.057012	0.30448	T	-0.201754	0.20551	T	-0.527582	0.19528	T	0.901643434169367	0.55442	D	0.529047	0.17505	T	0.094897635	0.22321	0.083165675	0.19037	0.094897635	0.22321	0.083165675	0.19037	-6.645	0.51395	T	.	.	0.14	0.30686	B	.;.	.;.	1.364895	0.17740	13.34	0.99010606688062608	0.50356	0.28269	0.23507	N	AEFGBCI	0.072829	0.14547	N	0.171656790390704	0.49841	3.180163	0.0244093556272297	0.40849	2.444632	7.76597501073896E-4	0.07793	0.615465	0.37627	0	0.486142	0.07564	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.83	2.63	0.30420	-0.523000	0.06316	.	.	-0.914000	0.02241	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0932:0.1609:0.7459:0.0	8.124	0.30149	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4922.98	253	chr17	76293040	.	G	T	4922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.536;DP=2241;ExcessHet=0.0000;FS=8.358;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=1.17;SOR=0.428	GT:AD:DP:GQ:PL	0/1:196,179:375:99:4937,0,5459	20	0	1	0
chr17	79784292	79784292	G	T	exonic	CBX2	.	nonsynonymous SNV	CBX2:NM_005189:exon5:c.G849T:p.K283N,	.	.	0	1520	2	0	0	2	0.000657462	.	.	715771	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.956	P	0.527	P	0.552	N	0.951	D	0.805	L	.	.	-1.015	T	0.087	T	0.206	2.162	13.19	3.42	1.337	0.616	8.020	0.110	0.0357920586237	0.0042	0.000998403	0.0032	0.0015	0.0003	0	0.0091	0.0046	0.0035	0.0007	0.0033247	514	154602	rs149210919	0.0043	0.0043	0.0044	0.0043	0.0050	0.0043	0.0042	0.0049	0.0049	0.0007	0.0009	0.0004	2.519e-05	0.0079	0	0.0050	0.0032	0.0006	0.0036	0.0036	0.0037	0.0034	0.0052	0.0033	0.0032	0.0048	0.0046	0.0010	0.0044	0.0016	0	0	0.0101	0	0.0052	0.0028	0.0010	0.002	0.72154	D	0.136	0.34009	T	0.956	0.54666	P	0.527	0.48453	P	0.552469	0.05377	N	1.201010	0.999908	0.19694	N	1.75	0.45442	L	.	.	.	-1.31	0.32791	N	0.336	0.37717	-1.0151	0.25304	T	0.087	0.33830	T	9	0.006760508	0.00153	T	0.035792	0.56579	D	0.110	0.31079	0.221	0.14371	0.303174742685	0.29934	0.2899101585974234	0.28904	0.106865737165	0.12070	0.430297017097	0.29249	T	0.10812	0.42088	T	-0.448046	0.01160	T	-0.405975	0.32690	T	0.0123809355320039	0.00202	T	0.788521	0.42806	T	0.16106519	0.36090	0.11861816	0.28633	0.16106519	0.36090	0.11861816	0.28632	-4.248	0.27441	T	0.29062539405284354	0.38712	0.401	0.59611	A	.	.	2.346204	0.30070	18.32	0.99707197684814619	0.81074	0.77985	0.38411	D	AEFDBCI	0.174687	0.30184	N	-0.123190696150763	0.36385	2.102375	-0.115995364821325	0.34745	2.002094	0.998402648368864	0.36906	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.52	3.42	0.38259	1.254000	0.32500	3.851000	0.40089	-0.113000	0.14837	0.964000	0.33853	1.000000	0.68203	0.061000	0.16044	0.1448:0.1328:0.7223:0.0	8.020	0.29563	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2149.98	47	chr17	79784292	.	G	T	2149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.24;DP=956;ExcessHet=0.0000;FS=1.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-1.614e+00;SOR=0.554	GT:AD:DP:GQ:PL	0/1:89,86:175:99:2164,0,1895	20	0	1	0
chr17	80090233	80090233	A	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3576.28	72	chr17	80090233	.	A	G,*	3576.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-1.180e+00;DP=2625;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=57.83;MQRankSum=6.42;QD=7.12;ReadPosRankSum=0.826;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,73,0:138:99:.:.:1651,0,1572,1845,1789,3634	18	0	2	0
chr17	81653166	81653166	A	C	exonic	PDE6G	.	nonsynonymous SNV	PDE6G:NM_001365724:exon2:c.T140G:p.V47G	Retinitis pigmentosa 57, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1083797	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.582	P	0.493	P	0.016	N	1.000	D	.	.	0.7	T	-0.717	T	0.198	T	0.485	3.917	19.93	5.41	2.058	7.164	15.068	0.298	0.350908352029	.	0.00139776	0.0005	9.638e-05	0	0	0	0	0.0022	0.0033	0.000414	64	154602	rs535048114	0.0002	0.0002	0.0001	0.0003	0.0034	0.0002	0.0002	0.0031	0.0030	8.961e-05	0	0	0	0	0	8.993e-07	0.0004	0.0034	0.0002	0.0002	0.0001	0.0002	0.0054	0.0001	0.0001	0.0038	0.0033	0	0	0	0	0	0	0	0	0	0.0054	0.001	0.78490	D	0.004	0.79402	D	0.582	0.38854	P	0.493	0.47443	P	0.016169	0.28049	N	0.388460	1	0.81001	D	.	.	.	0.7	0.51474	T	-5.3	0.84387	D	0.348	0.44570	-0.7169	0.59615	T	0.198	0.55301	T	9	0.013780117	0.00291	T	0.350908	0.92265	D	0.298	0.61843	0.554	0.67133	0.813207589168	0.81144	.	.	0.166535353928	0.18790	0.559820532799	0.47243	T	0.392733	0.75232	T	-0.312719	0.07511	T	-0.225026	0.52253	T	0.201336476870421	0.20489	T	0.825517	0.48813	T	0.8394171	0.86567	0.8479324	0.91365	0.8394171	0.86568	0.8479324	0.91366	-3.094	0.11227	T	.	.	0.842	0.79364	P	.;.;.;.	.;.;.;.	4.728957	0.76146	26.5	0.99175090666760735	0.54498	0.99586	0.97719	D	AEFDBI	0.882892	0.81137	D	0.395100283886715	0.61156	4.312991	0.466567749163946	0.65788	4.868235	0.999999999998708	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.459711	0.06710	0	0.444512	0.06955	0	.	.	5.41	5.41	0.78313	7.268000	0.77870	11.024000	0.84988	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	1.0:0.0:0.0:0.0	15.068	0.71679	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1225.98	34	chr17	81653166	.	A	C	1225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.451e+00;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=1.73;SOR=0.693	GT:AD:DP:GQ:PL	0/1:68,54:122:99:1240,0,1833	20	0	1	0
chr18	2937701	2937701	T	C	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon7:c.A1159G:p.K387E	Majeed syndrome	.	0	1479	38	5	0	48	0.0159681	.	.	103705	not_specified|not_provided|Autoinflammatory_syndrome|Psoriasis|Majeed_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0005083,MedGen:C0033860,OMIM:PS177900|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.469	P	0.169	B	0.000	D	1.000	D	2.175	M	-1.46	T	-0.324	T	0.429	T	0.883	3.639	18.51	5.74	2.193	5.006	14.621	0.525	.	0.0006	0.00678914	0.0043	0.0001	0.0009	0	0	0.0012	0.0056	0.0257	0.003771	583	154602	rs104895501	0.0023	0.0023	0.0016	0.0031	0.0260	0.0023	0.0022	0.0251	0.0247	0.0003	0.0013	0.0002	5.038e-05	9.37e-05	0.0095	0.0008	0.0025	0.0260	0.0017	0.0017	0.0012	0.0023	0.0295	0.0016	0.0015	0.0255	0.0240	0.0001	0	0.0016	0.0003	0	9.423e-05	0.0034	0.0012	0.0033	0.0295	0.106	0.29688	T	0.365	0.16717	T	0.469	0.36524	P	0.169	0.35248	B	0.000000	0.84330	D	0.042032	0.999997	0.58761	D	2.455	0.71248	M	-1.46	0.80983	T	-2.09	0.47683	N	0.513	0.54409	-0.3239	0.74313	T	0.429	0.77147	T	10	0.008249849	0.00187	T	.	.	.	0.525	0.79886	.	.	0.655422639558	0.65255	0.4558067673782812	0.45498	0.476885664701	0.46806	0.49358445406	0.37935	T	0.096917	0.39921	T	-0.00843234	0.50486	T	0.234708	0.84894	D	0.0146289846892014	0.00302	T	0.927307	0.73215	D	0.23034674	0.45788	0.22966772	0.48045	0.23515597	0.46347	0.27323538	0.53240	-5.471	0.41596	T	0.3718643203656596	0.46728	0.601	0.68900	P	.	.	3.146632	0.42582	21.6	0.99700605470064441	0.80591	0.99098	0.91196	D	AEFBI	0.605472	0.59617	D	0.21220550750028	0.51791	3.357567	0.319439671550726	0.56681	3.831987	0.999999995646822	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	5.225000	0.65124	6.120000	0.53774	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:0.0:1.0	14.621	0.68184	741	0.52966	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	1479.11	36	chr18	2937701	.	T	C	1479.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.46;DP=775;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=0.379;SOR=0.754	GT:AD:DP:GQ:PL	0/1:13,28:41:99:809,0,272	19	0	2	0
chr18	5891639	5891639	G	A	exonic	TMEM200C	.	nonsynonymous SNV	TMEM200C:NM_001080209:exon3:c.C425T:p.P142L,	.	.	174	1347	1	0	0	1	0.000371058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.1	B	0.028	B	0.917	N	1.000	N	0	N	.	.	-1.013	T	0.049	T	0.061	0.378	6.054	2.05	0.403	0.837	7.555	0.027	0.0120530318721	.	0.000599042	0.0003	0	0	0	0	0	0	0.0020	0.0002329	36	154602	rs557850782	0.0001	0.0001	5.991e-05	0.0002	0.0017	9.808e-05	9.223e-05	0.0014	0.0014	2.987e-05	0	0	0	0	0.0003	7.196e-06	0.0002	0.0017	5.255e-05	5.249e-05	2.571e-05	8.061e-05	0.0014	2.557e-05	1.83e-05	0.0007	0.0005	2.407e-05	0	0	0	0	0	0	0	0	0.0014	0.047	0.40319	D	0.019	0.59159	D	0.1	0.25713	B	0.028	0.21332	B	0.916664	0.07450	N	1.044460	1	0.08975	N	1.39	0.34934	L	.	.	.	-2.27	0.50666	N	0.07	0.12913	-1.0134	0.25848	T	0.049	0.20711	T	9	0.0071727037	0.00163	T	0.012053	0.30270	T	0.027	0.05988	0.347	0.34274	0.110078149338	0.10416	0.608271343251214	0.60759	.	.	0.442171126604	0.30873	T	0.008112	0.07462	T	-0.547912	0.00300	T	-0.578829	0.14650	T	0.016599787707992	0.00421	T	0.530047	0.17581	T	0.05813361	0.11658	0.078810215	0.17684	0.05813361	0.11657	0.078810215	0.17684	-5.002	0.36861	T	.	.	0.120	0.24666	B	.;.	.;.	2.063007	0.26232	17.04	0.97312670728358919	0.33337	0.24693	0.22472	N	AEFDGBCI	0.196175	0.32317	N	-0.941682691222677	0.09881	0.4696229	-0.94798153812883	0.10970	0.555981	0.999950675411126	0.48110	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.620976	0.48614	0	.	.	3.88	2.05	0.25860	1.375000	0.33900	4.867000	0.45528	0.613000	0.49114	0.003000	0.16062	0.992000	0.31684	0.027000	0.12703	0.0907:0.1659:0.7434:0.0	7.555	0.26986	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2087.98	38	chr18	5891639	.	G	A	2087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.35;DP=988;ExcessHet=0.0000;FS=1.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=1.40;SOR=0.591	GT:AD:DP:GQ:PL	0/1:86,79:165:99:2102,0,1946	20	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	89848.01	520	chr18	9887397	.	C	T,*	89848.01	.	AC=14,15;AF=0.333,0.357;AN=42;BaseQRankSum=1.52;DP=12043;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=14,15;MLEAF=0.333,0.357;MQ=59.66;MQRankSum=-1.550e-01;QD=11.05;ReadPosRankSum=-6.600e-02;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:378,256,0:634:99:.:.:5842,0,9871,7527,10975,21145	3	2	4	0
chr18	9887405	9887414	CCAAGGAGGG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:584,0,131:715:99:0|1:9887405_CCAAGGAGGG_C:1553,3382,26978,0,23716,23964:9887405	7	3	4	6
chr18	9887406	9887414	CAAGGAGGG	-	exonic	TXNDC2	.	nonframeshift deletion	TXNDC2:NM_001098529:exon2:c.927_935del:p.K310_G312del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.676e-05	1.869e-05	1.541e-05	1.814e-05	5.184e-05	1.006e-05	7.98e-06	7.41e-06	5.4e-06	5.184e-05	0	0	3.629e-05	7.729e-05	0	1.466e-05	0	1.809e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:584,0,131:715:99:0|1:9887405_CCAAGGAGGG_C:1553,3382,26978,0,23716,23964:9887405	7	3	4	6
chr18	9887415	9887434	TGACATCCCCAAGTCCCCAG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:557,6,131:694:99:0|1:9887405_CCAAGGAGGG_C:1395,3118,25267,0,22094,26183:9887405	7	3	8	2
chr18	9887416	9887434	GACATCCCCAAGTCCCCAG	-	exonic	TXNDC2	.	frameshift deletion	TXNDC2:NM_001098529:exon2:c.937_955del:p.D313Kfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.788e-06	8.288e-06	8.77e-06	6.777e-06	5.157e-05	3.24e-06	2.08e-06	2.14e-06	1.55e-06	5.157e-05	0	0	3.633e-05	0	0	7.303e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:557,6,131:694:99:0|1:9887405_CCAAGGAGGG_C:1395,3118,25267,0,22094,26183:9887405	7	3	8	2
chr18	13056590	13056590	A	C	exonic	CEP192	.	nonsynonymous SNV	CEP192:NM_032142:exon19:c.A4000C:p.N1334H,	.	.	434	1087	1	0	0	1	0.00045977	.	.	3296721	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.874	P	0.639	P	0.595	N	1.000	N	1.39	L	3.33	T	-0.997	T	0.022	T	0.09	0.563	7.044	-3.22E-5	-0.005	-0.068	5.160	0.029	0.0175344935606	.	0.000399361	0.0001	0	0	0	0	0	0	0.0010	0.0001229	19	154602	rs575049700	7.114e-05	7.114e-05	6.126e-05	8.113e-05	0.0011	5.98e-05	5.588e-05	0.0009	0.0008	0	0	0	2.519e-05	0	0.0002	8.993e-07	0.0001	0.0011	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.228	0.18434	T	0.116	0.48594	T	.	.	.	.	.	.	0.595347	0.11010	N	0.808498	1	0.08975	N	.	.	.	1.86	0.24285	T	-1.06	0.27669	N	0.207	0.22998	-0.9967	0.30838	T	0.022	0.09238	T	10	0.01314044	0.00280	T	0.017534	0.39265	T	0.029	0.06676	0.187	0.09646	0.282179105231	0.27821	0.20111368834490978	0.20028	0.352744523456	0.37098	0.257003635168	0.04540	T	0.016437	0.14658	T	-0.583724	0.00183	T	-0.661697	0.08151	T	0.113018080592155	0.13734	T	0.677032	0.30590	T	0.043468136	0.06778	0.029881135	0.01377	0.043468136	0.06778	0.029881135	0.01376	-3.919	0.22587	T	.	.	0.079	0.14062	B	.;.;.	.;.;.	1.496043	0.19239	14.16	0.96705495471224601	0.30792	0.13290	0.17772	N	AEFBI	0.069773	0.13825	N	-0.648167812464546	0.17514	0.901876	-0.789723440887692	0.14747	0.7721494	0.52584193734344	0.21135	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	-3.22E-5	0.13363	-0.033000	0.12196	2.133000	0.30793	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.6246:0.1429:0.2325:0.0	5.160	0.14384	466	0.78352	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3028.98	40	chr18	13056590	.	A	C	3028.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=938;ExcessHet=0.0000;FS=0.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=1.45;SOR=0.743	GT:AD:DP:GQ:PL	0/1:96,114:210:99:3043,0,2449	20	0	1	0
chr18	31008467	31008467	G	A	exonic	DSC3	.	nonsynonymous SNV	DSC3:NM_001941:exon10:c.C1322T:p.A441V	.	.	0	1517	4	1	0	6	0.00197368	.	.	3244704	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.208	B	0.102	B	0.086	N	0.596	D	1.705	L	1.14	T	-1.050	T	0.058	T	0.07	0.270	5.461	-2.43	-0.608	-0.744	3.337	0.040	0.00582004707971	7.7e-05	.	0.0002	9.61e-05	0.0002	0.0001	0	0.0001	0	0.0007	0.0001552	24	154602	rs148206392	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	5.974e-05	0.0001	0	0	0	0.0002	9.712e-05	8.279e-05	0.0012	6.574e-05	6.568e-05	7.71e-05	5.384e-05	0.0004	3.518e-05	2.618e-05	7.29e-05	3.029e-05	2.414e-05	0	0	0	0	0	0	7.35e-05	0.0010	0.0004	0.156	0.24090	T	0.199	0.42614	T	0.014	0.29916	B	0.045	0.30857	B	0.085775	0.20623	N	0.251445	0.595808	0.32495	D	0.935	0.23595	L	1.14	0.38397	T	-2.75	0.60665	D	0.148	0.17828	-1.0503	0.14313	T	0.058	0.24354	T	10	0.04462415	0.03441	T	0.00582	0.15131	T	0.040	0.10527	.	.	0.409937222855	0.40610	0.4818951796779853	0.48109	0.0390414745784	0.04153	0.310805082321	0.12028	T	0.158319	0.50129	T	-0.605425	0.00135	T	-0.692869	0.06224	T	0.0141876776715411	0.00279	T	0.721628	0.34357	T	0.057401687	0.11417	0.1019169	0.24411	0.052300792	0.09734	0.100260064	0.23966	-7.667	0.58778	D	.	.	0.077	0.06617	B	.;.	.;.	-0.013025	0.04192	1.019	0.88551949544905084	0.18066	0.03171	0.08147	N	AEFBI	0.051271	0.09043	N	-1.48100215101884	0.01984	0.08714321	-1.54736575667985	0.01994	0.09110107	0.00504880602106957	0.10808	0.549168	0.22868	0	0.627178	0.54094	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.34	-2.43	0.06145	-0.305000	0.08227	-0.015000	0.13005	-1.462000	0.01081	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.4766:0.1015:0.307:0.1148	3.337	0.06690	848	0.35897	Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1752.98	35	chr18	31008467	.	G	A	1752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.270;DP=840;ExcessHet=0.0000;FS=0.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=1.00;SOR=0.794	GT:AD:DP:GQ:PL	0/1:71,67:138:99:1767,0,1799	20	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T,	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	-0.92	T	0.372	D	0.658	D	0.592	5.198	33	5.86	2.937	6.565	20.563	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4762	4225.93	56	chr18	31541297	.	G	A	4225.93	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-4.940e-01;DP=1248;ExcessHet=43.6797;FS=377.368;InbreedingCoeff=-0.9302;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.76;ReadPosRankSum=0.537;SOR=12.605	GT:AD:DP:GQ:PL	0/1:31,33:64:99:306,0,572	1	0	20	0
chr18	50055305	50055305	C	T	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon2:c.G101A:p.G34E,	Microvillus inclusion disease, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.387	B	0.168	B	0.000	D	1.000	D	1.755	L	-1.81	D	-0.006	T	0.536	D	0.838	3.916	19.92	5.94	2.822	5.429	17.853	0.498	0.0387836426394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.124	0.35455	T	0.387	0.34533	B	0.072	0.28043	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.625	0.76847	M	-1.81	0.83970	D	-4.92	0.81675	D	0.644	0.65587	-0.0063	0.82125	T	0.536	0.82854	D	10	0.6602489	0.70111	D	0.038784	0.58429	D	0.498	0.78226	0.357	0.35897	0.897803160187	0.89679	0.7046846277495213	0.70410	0.736849980006	0.63023	0.559933781624	0.47258	T	0.317911	0.68933	T	0.300417	0.83000	D	0.193752	0.82780	D	0.980592966079712	0.73444	D	0.910509	0.68253	D	0.50828314	0.67579	0.53716415	0.73253	0.50828314	0.67580	0.53716415	0.73254	-6.223	0.48109	T	0.3670030217326714	0.46290	0.190	0.40810	B	.	.	3.930829	0.57454	23.9	0.99439832832992603	0.64720	0.95524	0.65064	D	AEFBI	0.802277	0.72775	D	0.217813982425596	0.52063	3.38292	0.348767097297266	0.58434	4.013784	0.999999981356878	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.94	5.94	0.96165	5.771000	0.68535	7.609000	0.61840	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	17.853	0.88666	848	0.35897	Myosin, N-terminal, SH3-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2408.98	35	chr18	50055305	.	C	T	2408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.454e+00;DP=899;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=0.165;SOR=0.672	GT:AD:DP:GQ:PL	0/1:97,101:198:99:2423,0,2391	20	0	1	0
chr18	50251764	50251764	C	T	exonic	CFAP53	.	nonsynonymous SNV	CFAP53:NM_145020:exon4:c.G494A:p.R165H,	Heterotaxy, visceral, 6, autosomal recessive, Autosomal recessive	.	10	1505	6	1	0	8	0.00265076	.	.	532304	CFAP53-related_disorder|not_provided|Heterotaxy,_visceral,_6,_autosomal	.|MedGen:C3661900|MONDO:MONDO:0013887,MedGen:C3553676,OMIM:614779,Orphanet:450	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	2.045	M	2.0	T	-0.959	T	0.138	T	0.802	4.844	27.6	5.32	2.493	4.430	16.508	0.172	0.0213929974462	0.0022	0.000798722	0.0024	0.0001	0.0009	0.0003	0.0020	0.0034	0.0033	0.0022	0.0023027	356	154602	rs138848935	0.0034	0.0034	0.0035	0.0033	0.0036	0.0033	0.0033	0.0033	0.0033	0.0005	0.0011	0.0170	0.0003	0.0011	0.0036	0.0034	0.0061	0.0024	0.0021	0.0021	0.0022	0.0020	0.0028	0.0019	0.0018	0.0025	0.0024	0.0004	0	0.0009	0.0199	0	0.0010	0	0.0028	0.0009	0.0017	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	.	.	.	2.0	0.21473	T	-3.76	0.71276	D	0.67	0.67822	-0.9586	0.39442	T	0.138	0.45508	T	10	0.006061405	0.00136	T	0.021393	0.44151	T	0.172	0.43662	.	.	0.422040124859	0.41822	0.2729855434709832	0.27211	0.417745085427	0.42384	0.480702579021	0.36153	T	0.127136	0.45396	T	-0.23062	0.16567	T	-0.107097	0.62841	T	0.0315478441424417	0.02234	T	0.740126	0.35895	T	0.64005506	0.74834	0.58659947	0.76023	0.67406607	0.76652	0.57435787	0.75345	-9.088	0.68261	D	0.7115408867780539	0.79183	0.130	0.27851	B	.	.	4.562850	0.71921	25.7	0.99947543505911152	0.99913	0.91836	0.54368	D	AEFBI	0.551048	0.56327	D	0.701475539506123	0.79728	7.139553	0.670113134032248	0.80114	7.227928	0.999996717444784	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	3.868000	0.55768	4.017000	0.41215	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.975000	0.56047	0.0:1.0:0.0:0.0	16.508	0.84124	896	0.25515	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2429.11	33	chr18	50251764	.	C	T	2429.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.19;DP=861;ExcessHet=0.1072;FS=7.922;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.060;SOR=1.276	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1316,0,1062	19	0	2	0
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.14	M	0.8	T	-0.471	T	0.319	T	0.142	4.835	27.5	5.97	2.836	7.818	19.210	0.315	0.0371233782211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170539047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.8	0.48769	T	-4.82	0.80851	D	0.665	0.72299	-0.4713	0.69679	T	0.319	0.68874	T	10	0.70792806	0.72858	D	0.037123	0.57424	D	0.315	0.63694	0.411	0.44723	0.803544974683	0.80170	.	.	1.72979365526	0.90724	0.81810438633	0.84738	D	0.45612	0.79501	T	-0.0908589	0.37934	T	-0.368289	0.37088	T	0.994576918359117	0.85946	D	0.979702	0.93682	D	0.72907937	0.79671	0.6503769	0.79545	0.72907937	0.79673	0.6503769	0.79545	-7.331	0.56415	T	.	.	0.945	0.86363	P	.;.	.;.	5.416801	0.90641	31	0.99916025942671016	0.98379	0.99021	0.90073	D	AEFBI	0.899214	0.84335	D	0.898058628751112	0.91662	10.99954	0.896553768688559	0.95422	13.60534	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	1330.19	111	chr18	51177115	.	C	T,G	1330.19	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=-4.762e+00;DP=2221;ExcessHet=0.6776;FS=112.002;InbreedingCoeff=-0.1305;MLEAC=3,1;MLEAF=0.075,0.025;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.366;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,40,0:154:99:0|1:51177113_A_G:508,0,3603,849,3717,4567:51177113	16	0	3	1
chr18	51177115	51177115	C	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216C:p.D406H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	2.14	M	0.75	T	-0.482	T	0.319	T	0.948	4.171	21.6	5.97	2.836	7.818	19.210	0.484	0.0331809939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.75	0.50192	T	-6.75	0.92692	D	0.812	0.80767	-0.4817	0.69305	T	0.319	0.68822	T	10	0.7835201	0.78052	D	0.033181	0.54798	D	0.484	0.77335	0.424	0.46857	0.840214349164	0.83868	.	.	1.91785441749	0.92971	0.830285191536	0.86606	D	0.50707	0.82498	D	0.312169	0.83907	D	0.210633	0.83698	D	0.990333229866762	0.80552	D	0.973803	0.91457	D	0.8829649	0.89912	0.8398288	0.90827	0.8829649	0.89914	0.8398288	0.90828	-12.355	0.86537	D	.	.	0.996	0.96051	P	.;.	.;.	5.487575	0.91449	32	0.99644427409600334	0.76881	0.99289	0.94010	D	AEFBI	0.907600	0.86183	D	0.896449868337804	0.91583	10.95824	0.895090889778716	0.95356	13.54367	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1330.19	111	chr18	51177115	.	C	T,G	1330.19	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=-4.762e+00;DP=2221;ExcessHet=0.6776;FS=112.002;InbreedingCoeff=-0.1305;MLEAC=3,1;MLEAF=0.075,0.025;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.366;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,40,0:154:99:0|1:51177113_A_G:508,0,3603,849,3717,4567:51177113	16	0	3	1
chr18	59273010	59273010	C	G	exonic	RAX	.	nonsynonymous SNV	RAX:NM_013435:exon1:c.G197C:p.R66T,	Microphthalmia, isolated 3, Autosomal recessive	.	0	1507	15	0	0	15	0.00495213	.	.	488356	Isolated_microphthalmia_3|RAX-related_disorder|not_provided	MONDO:MONDO:0012604,MedGen:C5774181,OMIM:611038,Orphanet:2542|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.433	B	0.11	B	0.001	D	0.901	D	0.805	L	-0.25	T	0.081	D	0.483	T	0.77	3.652	18.57	5.4	2.539	1.040	12.122	0.424	0.885887126186	.	.	0.0008	0	0	0	0	0.0004	0	0.0011	0.000401	62	154602	rs536765190	0.0038	0.0036	0.0039	0.0037	0.0053	0.0037	0.0037	0.0044	0.0043	0.0008	0.0007	3.983e-05	0	0.0022	0.0053	0.0045	0.0029	0.0012	0.0025	0.0025	0.0028	0.0022	0.0047	0.0023	0.0022	0.0043	0.0041	0.0006	0	0.0008	0.0003	0	0.0012	0.0034	0.0047	0.0005	0.0006	0.005	0.63226	D	0.032	0.53426	D	0.08	0.24543	B	0.023	0.19966	B	0.000638	0.42799	D	0.269995	0.900619	0.36163	D	2.125	0.59049	M	-0.26	0.88455	T	-5.44	0.85397	D	0.69	0.69562	0.081	0.83831	D	0.483	0.80270	T	10	0.037849545	0.02164	T	0.885887	0.99133	D	0.424	0.73226	.	.	0.993989602311	0.99392	0.7186332259311994	0.71806	1.13218365852	0.78658	0.832016348839	0.86872	D	0.112314	0.42848	T	-0.140094	0.29875	T	0.025844	0.72008	D	0.0526722523432095	0.05963	T	0.665033	0.27384	T	0.18607499	0.40000	0.20751755	0.45013	0.1932929	0.41033	0.22319286	0.47189	-4.787	0.34440	T	.	.	0.223	0.45409	B	.;.;.	.;.;.	2.183915	0.27838	17.60	0.95000546132480412	0.25960	0.60861	0.31317	D	AEFDBHCI	0.103794	0.20785	N	-0.0870985073548945	0.37959	2.215962	0.0597019761330204	0.42542	2.575024	0.999999992995475	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.4	5.4	0.77957	-0.097000	0.11010	2.587000	0.33447	0.522000	0.23927	0.000000	0.06391	0.993000	0.31925	0.537000	0.29868	0.0:0.9167:0.0:0.0833	12.122	0.53201	903	0.23940	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	906.98	34	chr18	59273010	.	C	G	906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.430e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.55;ReadPosRankSum=-3.560e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:53,42:95:99:921,0,1301	20	0	1	0
chr18	63917505	63917505	A	-	exonic	SERPINB10	.	frameshift deletion	SERPINB10:NM_005024:exon3:c.218delA:p.R76Gfs*7,	.	.	505	1000	17	0	0	17	0.00842836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0293	.	0.0081	0.0051	0.0100	0.0086	0.0055	0.0092	0.0093	0.0057	0.0002305	6	26028	rs779494900	0.0011	0.0039	0.0011	0.0011	0.0016	0.0011	0.0010	0.0013	0.0012	0.0007	0.0016	0.0005	0.0004	0.0002	0.0010	0.0012	0.0009	0.0009	0.0003	0.0003	0.0004	0.0002	0.0006	0.0003	0.0002	0.0005	0.0004	0.0002	0	6.724e-05	0	0	0	0	0.0006	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	34.55	31	chr18	63917504	.	GA	G	34.55	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.170e-01;DP=508;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.0944;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.197;SOR=0.822	GT:AD:DP:GQ:PL	0/1:19,3:22:24:24,0,486	17	0	4	0
chr18	63918068	63918068	C	A	exonic	SERPINB10	.	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.C338A:p.A113E,	.	.	437	1065	19	0	1	20	0.00884132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.503	P	0.165	B	0.104	N	1.000	N	2.14	M	-1.87	D	-0.336	T	0.499	T	0.355	1.183	9.811	3.07	0.805	1.850	9.162	0.340	.	.	0.00259585	0.0018	0.0003	0.0006	0	0	0.0009	0.0022	0.0089	0.0015653	242	154602	rs150764677	0.0011	0.0011	0.0007	0.0014	0.0102	0.0010	0.0010	0.0096	0.0094	0.0001	0.0002	0.0006	0	1.875e-05	0.0050	0.0005	0.0012	0.0102	0.0007	0.0007	0.0005	0.0009	0.0089	0.0006	0.0005	0.0068	0.0061	9.638e-05	0	0.0005	0.0014	0	9.454e-05	0	0.0006	0.0019	0.0089	0.007	0.59928	D	0.016	0.60972	D	0.503	0.37206	P	0.165	0.35019	B	0.103519	0.19744	N	0.534882	1	0.08975	N	2.365	0.68172	M	-1.87	0.84415	D	0.62	0.02442	N	0.256	0.28965	-0.3362	0.73953	T	0.499	0.81033	T	10	0.0140993595	0.00297	T	.	.	.	0.340	0.66202	0.82	0.93328	0.768827659172	0.76671	0.5855384913771153	0.58482	0.0360439460579	0.03809	.	.	.	0.14396	0.48034	T	-0.307592	0.07963	T	-0.207504	0.53934	T	0.0177004433797873	0.00501	T	0.872113	0.57861	D	0.083175056	0.19196	0.16915773	0.38929	0.083175056	0.19196	0.16915773	0.38928	-6.628	0.51267	T	.	.	0.349	0.56501	A	.;.	.;.	1.472428	0.18966	14.02	0.88662443902899091	0.18154	0.02507	0.06998	N	AEFDGBIJ	0.035576	0.04603	N	-0.511846940848905	0.21696	1.153322	-0.585779298301498	0.19863	1.067659	0.999977401777019	0.50053	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.83	3.07	0.34476	0.841000	0.27267	3.512000	0.38846	-0.184000	0.09925	0.001000	0.13787	0.744000	0.26502	0.221000	0.22489	0.0779:0.2951:0.627:0.0	9.162	0.36189	960	0.08626	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	0.04762	2036.11	33	chr18	63918068	.	C	A	2036.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.68;DP=954;ExcessHet=0.1072;FS=1.570;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.80;ReadPosRankSum=1.67;SOR=0.581	GT:AD:DP:GQ:PL	0/1:99,68:167:99:1642,0,2318	19	0	2	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.073	N	0.983	D	-3.46	N	1.84	T	-0.904	T	0.008	T	0.124	-0.621	1.242	3.76	1.045	2.422	13.494	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	4590.35	69	chr18	65824683	.	C	G	4590.35	.	AC=20;AF=0.500;AN=40;BaseQRankSum=0.297;DP=1960;ExcessHet=43.6797;FS=200.513;InbreedingCoeff=-0.9189;MLEAC=20;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=1.02;SOR=12.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,25:62:99:.:.:219,0,395	0	0	20	1
chr18	75288133	75288133	G	A	exonic	TSHZ1	.	nonsynonymous SNV	TSHZ1:NM_001308210:exon2:c.G2726A:p.R909Q	Aural atresia, congenital, Autosomal dominant	.	0	1510	11	1	0	13	0.00428619	.	.	347847	TSHZ1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.886	P	0.000	D	0.974	D	1.78	L	2.5	T	-1.165	T	0.083	T	0.599	1.608	11.34	4.96	-0.022	9.420	18.576	0.270	0.0333185130125	0.0017	0.00139776	0.0013	0.0003	0.0004	0	0.0005	0.0022	0	0.0002	0.0014165	219	154602	rs150180967	0.0022	0.0022	0.0022	0.0021	0.0028	0.0021	0.0021	0.0026	0.0025	0.0004	0.0012	0.0002	2.519e-05	0.0011	0.0028	0.0026	0.0017	0.0003	0.0017	0.0017	0.0018	0.0016	0.0027	0.0016	0.0015	0.0024	0.0023	0.0005	0	0.0024	0	0	0.0010	0	0.0027	0.0024	0.0008	0.166	0.23183	T	0.281	0.21612	T	0.999	0.77913	D	0.886	0.62898	P	0.000000	0.84330	D	0.000000	0.711541	0.39095	D	1.67	0.42885	L	2.5	0.17271	T	-1.39	0.34397	N	0.832	0.89465	-1.1651	0.00640	T	0.083	0.32470	T	10	0.08307493	0.13781	T	0.033319	0.54896	D	0.270	0.58507	.	.	0.550531271145	0.54709	0.5011832761362598	0.50040	1.04679910713	0.75980	0.70103085041	0.67292	T	0.242204	0.61089	T	-0.388504	0.02751	T	-0.331991	0.41246	T	0.0435036070396752	0.04330	T	0.930707	0.74322	D	0.32810152	0.55315	0.24138081	0.49534	0.3416828	0.56413	0.24574144	0.50067	-12.334	0.86676	D	.	.	0.127	0.26917	B	.;.	.;.	4.379710	0.67501	25.1	0.98630640282254034	0.43906	0.97104	0.72712	D	AEFDBI	0.721868	0.67198	D	0.337999683614596	0.58108	3.981362	0.316969315280537	0.56536	3.817114	0.626375401283448	0.21929	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	9.602000	0.97623	8.748000	0.78215	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:1.0:0.0	18.576	0.91110	1000	0.00083	.;Homeobox domain|Homeobox domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1886.98	35	chr18	75288133	.	G	A	1886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=913;ExcessHet=0.0000;FS=0.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-7.180e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/1:78,70:148:99:1901,0,1929	20	0	1	0
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,68,0,0:68:99:.:.:2775,194,0,2783,203,2791,2783,203,2791,2791	1	10	5	0
chr19	2251248	2251248	A	G	exonic	AMH	.	nonsynonymous SNV	AMH:NM_000479:exon5:c.A974G:p.Q325R,	Persistent Mullerian duct syndrome, type I, Autosomal recessive	.	5	1488	27	2	0	31	0.0103093	.	.	377366	not_specified|not_provided|Persistent_Mullerian_duct_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009857,MedGen:C1849930,OMIM:261550,Orphanet:2856	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.78	T	0.948	P	0.507	P	0.002	U	0.999	N	1.87	L	-1.55	D	-0.661	T	0.264	T	0.162	0.628	7.378	4.11	1.514	4.544	7.503	0.425	.	.	0.00479233	0.0084	0.0054	0.0222	0	.	0.0284	0.0086	0.0014	0.0010414	161	154602	rs140765565	0.0025	0.0025	0.0025	0.0026	0.0245	0.0025	0.0024	0.0218	0.0213	0.0233	0.0030	0.0435	0	2.985e-05	0.0245	0.0010	0.0071	0.0013	0.0091	0.0091	0.0094	0.0088	0.0244	0.0087	0.0086	0.0231	0.0226	0.0244	0	0.0051	0.0430	0	0.0002	0.0347	0.0014	0.0147	0.0023	0.83	0.02884	T	0.054	0.47097	T	0.948	0.53620	P	0.507	0.47859	P	0.002188	0.37053	U	0.230895	0.99918	0.21543	N	2.25	0.63811	M	-1.55	0.81727	D	-1.55	0.37566	N	0.698	0.70263	-0.6606	0.62249	T	0.264	0.63512	T	10	0.0093874335	0.00212	T	.	.	.	0.425	0.73299	.	.	0.844910197176	0.84342	0.29810499824377995	0.29723	1.82600149433	0.92012	0.874897897243	0.93261	D	0.485823	0.81257	T	-0.370304	0.03578	T	-0.285095	0.46281	T	0.0270123198030899	0.01546	T	0.482752	0.14626	T	0.12263969	0.28815	0.09077527	0.21305	0.12263969	0.28815	0.09077527	0.21304	-2.308	0.04599	T	.	.	0.150	0.33179	B	.	.	3.246013	0.44328	21.9	0.65532530357541507	0.07799	0.63927	0.32243	D	AEFDBCI	0.409307	0.48064	N	0.099763491502891	0.46449	2.885275	0.0820088008310457	0.43643	2.661927	0.997868075121286	0.36124	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.620976	0.48614	0	.	.	4.11	4.11	0.47350	3.649000	0.54157	7.544000	0.60141	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.522000	0.29520	0.8952:0.0:0.1048:0.0	7.503	0.26699	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	0.04762	458.11	39	chr19	2251248	.	A	G	458.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.000e-01;DP=693;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.04;ReadPosRankSum=-9.600e-01;SOR=0.708	GT:AD:DP:GQ:PL	0/1:17,8:25:99:197,0,563	19	0	2	0
chr19	4328687	4328687	T	C	exonic	STAP2	.	nonsynonymous SNV	STAP2:NM_001013841:exon6:c.A578G:p.Q193R	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.822	P	0.709	P	0.000	U	0.998	D	2.33	M	.	.	-0.314	T	0.341	T	0.709	3.412	17.53	4.47	1.654	4.033	11.732	0.314	0.311539714638	.	.	0.0006	0	0	0	0	7.261e-05	0.0024	0.0024	0.000194	30	154602	rs755997585	0.0001	0.0001	5.865e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	0	2.237e-05	0	1.15e-05	5.673e-05	0.0018	6.786e-05	6.72e-05	6.631e-05	6.948e-05	0.0016	3.625e-05	2.795e-05	0.0008	0.0005	0	0	0	0	0.0002	0	0	2.994e-05	0	0.0016	.	.	.	0.0	0.92824	D	0.822	0.45767	P	0.709	0.54472	P	0.000000	0.84330	U	0.000000	0.997875	0.44275	D	2.77	0.80896	M	1.55	0.54149	T	.	.	.	0.822	0.81758	-0.3136	0.74603	T	0.341	0.70688	T	9	0.29356146	0.46930	T	0.31154	0.91200	D	.	.	.	.	0.504357364658	0.50072	0.7592584248365785	0.75873	0.976763722486	0.73591	0.548436164856	0.45637	T	0.756603	0.93372	D	-0.227793	0.16941	T	-0.106461	0.62893	T	0.279473833623046	0.24149	T	0.791221	0.43725	T	0.6440041	0.75044	0.62360483	0.78065	0.6440041	0.75045	0.62360483	0.78066	-10.374	0.76473	D	.	.	0.556	0.67060	A	.;.	.;.	3.913299	0.57078	23.8	0.98157034519179709	0.38738	0.32003	0.24478	N	ALL	0.631943	0.61274	D	0.150841502445081	0.48852	3.092392	0.0771912684438208	0.43405	2.642836	0.999999999999927	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.47	4.47	0.53770	2.417000	0.44307	5.794000	0.49890	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.627000	0.32078	0.0:0.0:0.0:1.0	11.732	0.51011	934	0.15400	.;SH2 domain|STAP2, SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	542.98	34	chr19	4328687	.	T	C	542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.063;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.647;SOR=0.760	GT:AD:DP:GQ:PL	0/1:30,23:53:99:557,0,753	20	0	1	0
chr19	4433154	4433154	G	A	exonic	CHAF1A	.	nonsynonymous SNV	CHAF1A:NM_005483:exon13:c.G2288A:p.R763Q,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.559	P	0.044	B	.	.	0.757	D	0.46	N	1.44	T	-1.033	T	0.034	T	0.076	1.449	10.79	3.09	0.446	2.474	5.814	0.092	0.00813085509188	0.0017	0.00119808	0.0010	0.0024	0.0003	0	0	0.0008	0.0011	0.0023	0.0009702	150	154602	rs115461571	0.0012	0.0012	0.0012	0.0013	0.0032	0.0012	0.0012	0.0027	0.0025	0.0032	0.0003	0	0	5.625e-05	0.0009	0.0012	0.0008	0.0026	0.0013	0.0013	0.0014	0.0011	0.0029	0.0011	0.0011	0.0022	0.0021	0.0026	0	0.0005	0	0.0002	0	0	0.0009	0.0005	0.0029	0.495	0.07870	T	0.87	0.03314	T	0.559	0.38332	P	0.044	0.24394	B	.	.	.	.	0.756755	0.33991	D	1.11	0.28643	L	1.44	0.32722	T	-0.56	0.17003	N	0.186	0.20262	-1.0330	0.19490	T	0.034	0.14726	T	9	0.011091024	0.00244	T	0.008131	0.21547	T	0.092	0.26621	.	.	0.521601789199	0.51804	0.26881349841204827	0.26794	0.247651168362	0.27319	0.231635138392	0.02091	T	0.022199	0.17156	T	-0.592972	0.00161	T	-0.628218	0.10550	T	0.00569897016772493	0.00062	T	0.860114	0.55285	D	0.035497636	0.04190	0.108564064	0.26153	0.035497636	0.04190	0.108564064	0.26152	-2.227	0.04173	T	.	.	0.066	0.02285	B	.	.	2.153823	0.27432	17.46	0.98502756966827276	0.42240	0.57910	0.30501	D	AEFGBCI	0.076165	0.15316	N	-0.213003287981331	0.32600	1.840222	-0.128477567451202	0.34247	1.967863	0.999972136790529	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.33	3.09	0.34677	2.496000	0.45006	3.791000	0.39830	0.676000	0.76740	0.967000	0.34061	1.000000	0.68203	0.963000	0.52385	0.5575:0.0:0.4425:0.0	5.814	0.17742	825	0.40060	Chromatin assembly factor 1 subunit A, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1776.98	35	chr19	4433154	.	G	A	1776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.867;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=-1.951e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/1:55,67:122:99:1791,0,1318	20	0	1	0
chr19	4501975	4501975	C	T	exonic	HDGFL2	.	nonsynonymous SNV	HDGFL2:NM_001001520:exon16:c.C1981T:p.R661W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.353	B	0.907	N	1.000	N	0.805	L	0.76	T	-0.979	T	0.107	T	0.307	2.839	15.46	4.48	2.036	2.786	12.664	0.096	0.039416342392	.	.	7.891e-05	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs753630006	2.354e-05	2.805e-05	2.175e-05	2.537e-05	0.0001	1.703e-05	1.458e-05	5.307e-05	3.825e-05	0	0	0	0.0001	9.777e-05	0	1.31e-05	3.54e-05	0.0001	5.259e-05	5.254e-05	5.14e-05	5.384e-05	0.0006	2.558e-05	1.831e-05	0.0002	9.003e-05	0	0	0	0	0.0004	9.414e-05	0	2.941e-05	0	0.0006	.	.	.	0.01	0.74150	D	.	.	.	.	.	.	0.907331	0.07393	N	1.058350	0.999999	0.08975	N	0.975	0.24501	L	.	.	.	.	.	.	0.308	0.36884	-0.9794	0.35139	T	0.107	0.38955	T	10	0.13629308	0.25931	T	0.039416	0.58796	D	.	.	.	.	0.110392049598	0.10638	0.045575637916317996	0.04501	.	.	0.338731706142	0.16248	T	0.02501	0.18784	T	-0.0821665	0.39361	T	-0.355803	0.38538	T	0.554393231868744	0.34642	D	0.867613	0.56877	D	0.074596435	0.16751	0.058631267	0.10868	0.074596435	0.16751	0.058631267	0.10867	-7.038	0.54310	T	.	.	0.092	0.66639	B	.;.;.	.;.;.	3.483243	0.48648	22.6	0.9895171034358009	0.49150	0.27541	0.23306	N	AEFDBI	0.166188	0.29274	N	-0.231479058736437	0.31848	1.790015	-0.333924759492304	0.27011	1.495887	0.850466440412902	0.25034	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	4.783000	0.62096	3.235000	0.36931	0.596000	0.33519	0.249000	0.24839	0.084000	0.22431	0.016000	0.10718	0.0:1.0:0.0:0.0	12.664	0.56194	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	673.98	37	chr19	4501975	.	C	T	673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-01;DP=843;ExcessHet=0.0000;FS=5.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.37;ReadPosRankSum=-5.760e-01;SOR=0.306	GT:AD:DP:GQ:PL	0/1:39,26:65:99:688,0,1055	20	0	1	0
chr19	4511635	4511635	C	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	177671.52	322	chr19	4511635	.	C	G,*	177671.52	.	AC=25,1;AF=0.833,0.033;AN=30;BaseQRankSum=-7.580e-01;DP=10056;ExcessHet=0.2174;FS=0.730;InbreedingCoeff=0.2169;MLEAC=32,1;MLEAF=1.00,0.033;MQ=57.70;MQRankSum=-7.188e+00;QD=24.86;ReadPosRankSum=1.56;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,372,0:372:99:.:.:11565,1114,0,12286,1141,14468	0	10	4	6
chr19	4511713	4511713	T	0	exonic	PLIN4	.	.	.	.	.	34	3	109	74	6	263	0.977186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	139194.31	100	chr19	4511713	.	T	C,*	139194.31	.	AC=22,1;AF=0.846,0.038;AN=26;BaseQRankSum=1.87;DP=8565;ExcessHet=0.0976;FS=2.619;InbreedingCoeff=0.3015;MLEAC=31,1;MLEAF=1.00,0.038;MQ=56.56;MQRankSum=-1.881e+00;QD=32.62;ReadPosRankSum=-5.445e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,316,0:316:99:1|1:4511713_T_C:12562,953,0,11162,972,11353:4511713	0	9	3	8
chr19	4511718	4511718	T	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	139161.99	105	chr19	4511718	.	T	*,C	139161.99	.	AC=1,18;AF=0.038,0.692;AN=26;BaseQRankSum=2.11;DP=8846;ExcessHet=2.2649;FS=2.542;InbreedingCoeff=-0.0055;MLEAC=1,25;MLEAF=0.038,0.962;MQ=56.65;MQRankSum=-5.673e+00;QD=32.12;ReadPosRankSum=0.575;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,305:305:99:1|1:4511713_T_C:12195,10749,10719,920,912,0:4511713	0	0	0	8
chr19	6432101	6432101	G	A	exonic	SLC25A41	.	nonsynonymous SNV	SLC25A41:NM_173637:exon2:c.C311T:p.A104V,	.	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.994	D	0.846	P	0.000	D	1.000	D	1.725	L	-1.37	T	0.052	D	0.480	T	0.653	4.533	24.4	4.62	2.396	7.196	16.375	0.681	.	0.0067	0.00419329	0.0069	0.0017	0.0027	0.0001	0.0065	0.0104	0.0045	0.0025	0.006921	1070	154602	rs150991235	0.0090	0.0090	0.0092	0.0088	0.0105	0.0088	0.0088	0.0104	0.0103	0.0012	0.0032	0.0033	0	0.0063	0.0021	0.0105	0.0080	0.0035	0.0064	0.0064	0.0069	0.0058	0.0110	0.0060	0.0059	0.0103	0.0101	0.0014	0	0.0048	0.0020	0.0002	0.0059	0	0.0110	0.0047	0.0025	0.08	0.33585	T	0.035	0.52389	D	0.994	0.66517	D	0.846	0.60472	P	0.000019	0.62929	D	0.066049	1	0.81001	D	1.745	0.45235	L	-1.37	0.80214	T	-3.15	0.64132	D	0.684	0.69037	0.052	0.83272	D	0.480	0.80124	T	10	0.016352922	0.00344	T	.	.	.	0.681	0.88300	.	.	0.631438196984	0.62842	0.4244616758032431	0.42363	0.221065688482	0.24653	0.522127866745	0.41926	T	0.20593	0.56513	T	-0.178185	0.24006	T	-0.018339	0.69138	D	0.00936161113568234	0.00120	T	0.982702	0.94130	D	0.3212692	0.54747	0.29901394	0.55934	0.3212692	0.54746	0.29901394	0.55934	-8.083	0.61635	D	.	.	0.214	0.44358	B	.	.	4.307601	0.65821	24.9	0.99927452651785742	0.99163	0.97203	0.73298	D	AEFBI	0.877814	0.80268	D	0.555245156009932	0.70402	5.496262	0.515638785235919	0.69041	5.30412	0.999995669123339	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.667671	0.60360	0	0.567892	0.33627	0	.	.	4.62	4.62	0.56946	7.932000	0.87091	4.393000	0.43220	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.0:0.0:1.0:0.0	16.375	0.83215	818	0.41518	.	.	.	.	.	rs150991235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2399.11	111	chr19	6432101	.	G	A	2399.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.44;DP=897;ExcessHet=0.1072;FS=1.047;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=0.366;SOR=0.611	GT:AD:DP:GQ:PL	0/1:64,49:113:99:1134,0,1551	19	0	2	0
chr19	6734221	6734221	G	A	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon5:c.C461T:p.P154L,	.	.	410	1101	10	0	1	11	0.0045208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.894	P	0.258	B	0.853	U	0.999	D	2.24	M	1.93	T	-0.957	T	0.049	T	0.303	3.548	18.10	3.05	2.032	1.707	9.814	0.079	.	0.0048	0.00419329	0.0038	0.0009	0.0022	0.0003	0.0009	0.0046	0	0.0067	0.0040232	622	154602	rs139348331	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0071	0.0009	0.0021	0.0001	7.557e-05	0.0011	0.0043	0.0072	0.0058	0.0065	0.0037	0.0037	0.0038	0.0035	0.0073	0.0034	0.0033	0.0054	0.0052	0.0012	0.0055	0.0032	0	0.0008	0.0009	0.0034	0.0059	0.0019	0.0073	0.22	0.18956	T	0.158	0.31629	T	0.894	0.49185	P	0.258	0.39350	B	0.853454	0.07072	U	1.085260	0.999493	0.47278	D	2.05	0.56469	M	1.93	0.22881	T	-1.02	0.26843	N	0.337	0.37820	-0.9572	0.39699	T	0.049	0.20868	T	10	0.00436759	0.00089	T	.	.	.	0.079	0.23065	.	.	0.484182897458	0.48051	0.26909468916475454	0.26822	0.233007264821	0.25837	0.354487329721	0.18580	T	0.012394	0.10902	T	-0.496014	0.00602	T	-0.481819	0.24253	T	0.0128035230507367	0.00218	T	0.663934	0.27277	T	0.036734853	0.04575	0.046493825	0.06491	0.036734853	0.04575	0.046493825	0.06491	-4.569	0.31779	T	.	.	0.074	0.05231	B	.	.	1.745668	0.22210	15.53	0.99745819510724698	0.83852	0.62166	0.31700	D	ALL	0.044639	0.07208	N	-0.107655233281546	0.37058	2.150687	-0.209886074529591	0.31180	1.762182	0.999999999976254	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.591603	0.36755	0	.	.	3.05	3.05	0.34272	1.814000	0.38610	0.852000	0.22147	0.662000	0.56354	0.972000	0.34453	0.348000	0.24457	0.028000	0.12845	0.0:0.0:1.0:0.0	9.814	0.40010	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2970.11	39	chr19	6734221	.	G	A	2970.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.69;DP=955;ExcessHet=0.1072;FS=1.135;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=0.505;SOR=0.576	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1524,0,1328	19	0	2	0
chr19	6734281	6734281	T	C	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon5:c.A401G:p.Q134R,	.	.	406	1106	9	1	0	11	0.00494827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.941	P	0.413	B	0.734	U	1.000	D	2.075	M	1.88	T	-1.068	T	0.050	T	0.211	2.471	14.22	3.92	1.648	2.137	9.065	0.100	.	0.0049	0.00419329	0.0039	0.0011	0.0023	0.0004	0.0010	0.0047	0	0.0068	0.0040038	619	154602	rs144129725	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0070	0.0010	0.0021	0.0001	7.557e-05	0.0011	0.0042	0.0072	0.0058	0.0065	0.0037	0.0037	0.0038	0.0035	0.0075	0.0034	0.0033	0.0055	0.0052	0.0013	0.0055	0.0032	0	0.0008	0.0009	0.0034	0.0059	0.0019	0.0075	0.495	0.07870	T	0.493	0.11443	T	0.941	0.52883	P	0.413	0.44885	B	0.734258	0.09829	U	0.828605	1	0.81001	D	2.48	0.72069	M	1.88	0.23884	T	-1.57	0.37955	N	0.454	0.49146	-1.0682	0.09813	T	0.050	0.21261	T	10	0.0070121586	0.00160	T	.	.	.	0.100	0.28662	.	.	0.390687800842	0.38684	0.6046379522053114	0.60394	0.247364135573	0.27283	0.458822876215	0.33148	T	0.040168	0.25436	T	-0.533994	0.00364	T	-0.536514	0.18641	T	0.0191371003437567	0.00621	T	0.70113	0.31087	T	0.11732288	0.27659	0.08351023	0.19142	0.11732288	0.27659	0.08351023	0.19142	-3.365	0.14589	T	.	.	0.242	0.47622	B	.	.	2.495277	0.32200	18.97	0.99421346354934392	0.63790	0.75056	0.36733	D	AEFDGBHCI	0.103538	0.20740	N	0.0426731223370819	0.43806	2.666421	-0.00611738651292093	0.39437	2.33837	0.999999999913197	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.591603	0.36755	0	.	.	3.92	3.92	0.44525	1.011000	0.29513	4.645000	0.44172	-0.123000	0.13640	0.986000	0.36153	1.000000	0.68203	0.016000	0.10718	0.0:0.0:0.0:1.0	9.065	0.35621	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1341.11	39	chr19	6734281	.	T	C	1341.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.252e+00;DP=846;ExcessHet=0.1072;FS=0.782;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.569;SOR=0.591	GT:AD:DP:GQ:PL	0/1:21,34:55:99:838,0,560	19	0	2	0
chr19	7019288	7019288	G	A	exonic	MBD3L2B	.	nonsynonymous SNV	MBD3L2B:NM_001364674:exon2:c.C488T:p.P163L,	.	.	483	1003	32	4	0	40	0.0195503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	0.117	N	1.000	N	.	.	.	.	-1.006	T	0.081	T	.	0.377	6.049	-4.51	-0.971	-0.413	3.179	0.064	.	.	0.00658946	0.0150	0.0012	0.0115	0.0065	0	0.0128	0.0114	0.0197	0.0019728	305	154602	rs377522880	0.0050	0.0045	0.0038	0.0059	0.0179	0.0048	0.0048	0.0170	0.0166	0.0006	0.0020	0.0244	0.0016	9.31e-05	0.0097	0.0025	0.0068	0.0179	0.0028	0.0029	0.0025	0.0031	0.0178	0.0025	0.0025	0.0146	0.0134	0.0003	0	0.0045	0.0260	0.0039	9.854e-05	0.0034	0.0020	0.0045	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	0.117193	0.02692	N	2.156950	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0059	0.28186	T	0.081	0.31854	T	6	0.004792005	0.00101	T	.	.	.	.	.	.	.	.	.	0.31987110972752	0.31900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454655	0.12977	T	0.04363344	0.06835	0.07398557	0.16137	0.04363344	0.06834	0.07398557	0.16137	-3.597	0.17813	T	.	.	0.086	0.10739	B	.;.	.;.	0.840878	0.12126	8.677	0.513626325724442	0.04549	0.00220	0.01242	N	AEFBI	.	.	.	-0.808078894078884	0.13103	0.6432139	-1.05272047173043	0.08650	0.4263698	1.99783207891912E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0429863	0.02266	2.25	-4.51	0.03237	-0.349000	0.07779	-4.649000	0.02051	0.489000	0.22316	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2104:0.0:0.3435:0.4461	3.179	0.06185	964	0.07719	Methyl-CpG binding protein 2/3, C-terminal domain;Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	356.04	9	chr19	7019288	.	G	A	356.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.848;DP=245;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0288;MLEAC=1;MLEAF=0.024;MQ=43.10;MQRankSum=0.669;QD=16.18;ReadPosRankSum=0.635;SOR=0.836	GT:AD:DP:GQ:PL	0/1:9,13:22:99:370,0,229	20	0	1	0
chr19	7032755	7032755	C	T	exonic	MBD3L5	.	nonsynonymous SNV	MBD3L5:NM_001136507:exon2:c.C488T:p.P163L,	.	.	939	570	12	1	0	14	0.0121317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.008	B	0.008	B	0.117	N	1.000	N	1.525	L	.	.	-1.037	T	0.088	T	0.168	-0.702	0.967	-3.3	-1.207	-0.481	3.650	0.032	0.00362205767171	.	.	0.0018	0	0	0	0	0.0030	0	0.0012	6.5e-06	1	154602	rs775760035	0.0031	0.0022	0.0024	0.0037	0.0104	0.0029	0.0029	0.0096	0.0093	0.0003	0.0013	0.0111	0.0003	0	0.0096	0.0020	0.0035	0.0104	0.0023	0.0014	0.0017	0.0030	0.0157	0.0019	0.0017	0.0078	0.0057	0	0	0.0030	0.0225	0	0	0.0128	0.0018	0.0031	0.0157	0.079	0.33753	T	0.048	0.48594	D	0.008	0.14655	B	0.008	0.13708	B	0.117193	0.02692	N	2.156950	0.999999	0.08975	N	0.695	0.17993	N	.	.	.	-2.02	0.46503	N	0.218	0.24385	-1.0373	0.18140	T	0.088	0.33968	T	9	0.004570663	0.00095	T	0.003622	0.08309	T	0.032	0.07718	0.342	0.33464	0.0551355673512	0.04727	0.39057892685247886	0.38972	.	.	0.436823695898	0.30144	T	0.039963	0.25369	T	-0.559425	0.00256	T	-0.568533	0.15585	T	0.00697805741738573	0.00079	T	0.454655	0.12977	T	0.050567735	0.09154	0.048343748	0.07162	0.050567735	0.09154	0.048343748	0.07161	-3.6	0.17857	T	.	.	0.076	0.06114	B	.	.	0.715101	0.10842	7.519	0.43210924728789046	0.03238	0.00115	0.00727	N	AEFI	0.020338	0.00793	N	-1.33596277550651	0.03273	0.1459117	-1.50080691978968	0.02339	0.1074006	9.90148809100885E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.65	-3.3	0.04692	-0.491000	0.06555	-2.587000	0.03577	0.401000	0.20554	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3034:0.4941:0.0:0.2025	3.650	0.07736	964	0.07719	Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	74.65	13	chr19	7032755	.	C	T	74.65	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.82;DP=97;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0503;MLEAC=1;MLEAF=0.031;MQ=29.97;MQRankSum=-1.803e+00;QD=7.46;ReadPosRankSum=2.82;SOR=1.329	GT:AD:DP:GQ:PL	0/1:6,4:10:85:85,0,176	15	0	1	5
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	.	.	.	.	.	.	0.996	N	0	N	.	.	-0.998	T	0.035	T	0.085	0.963	8.927	0.534	0.295	1.986	5.982	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	769.34	89	chr19	7871678	.	G	C	769.34	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-3.686e+00;DP=1708;ExcessHet=6.1002;FS=184.238;InbreedingCoeff=-0.3275;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=0.814;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,18:82:25:.:.:25,0,1374	10	0	10	1
chr19	8324457	8324457	C	T	exonic	KANK3	.	nonsynonymous SNV	KANK3:NM_198471:exon10:c.G2374A:p.D792N,	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.052	B	0.014	B	.	.	1.000	N	0.345	N	1.69	T	-1.013	T	0.033	T	0.028	0.800	8.211	3.57	1.074	0.370	7.286	0.031	0.00764050621881	.	0.00139776	0.0016	0.0002	0	0	0.0006	0.0006	0.0027	0.0056	0.0006145	95	154602	rs74322373	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0034	0.0032	0.0001	2.35e-05	0	0	0.0001	0.0009	7.504e-05	0.0003	0.0037	0.0001	0.0001	0.0001	0.0002	0.0031	9.141e-05	7.697e-05	0.0019	0.0015	7.215e-05	0	0	0	0	9.413e-05	0.0034	0	0.0005	0.0031	0.535	0.06913	T	0.523	0.10967	T	0.052	0.22494	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.69	0.27032	T	0.21	0.04776	N	0.162	0.17691	-1.0128	0.26038	T	0.033	0.14160	T	9	0.00474447	0.00100	T	0.007641	0.20272	T	0.031	0.07369	0.172	0.07774	0.223146558224	0.21909	0.11353299386998926	0.11281	.	.	0.303341627121	0.10901	T	0.003642	0.03050	T	-0.696001	0.00039	T	-0.774007	0.02639	T	0.0192864773054423	0.00634	T	0.375462	0.08961	T	0.069757245	0.15311	0.07369581	0.16044	0.069757245	0.15310	0.07369581	0.16044	-4.769	0.34228	T	.	.	0.076	0.09868	B	.;.	.;.	0.644247	0.10126	6.872	0.74874219935048658	0.10860	0.14610	0.18494	N	AEFDBHCI	0.095398	0.19274	N	-0.900765921511601	0.10824	0.5191996	-0.87980800796481	0.12573	0.6475249	0.999999824720997	0.74766	0.67177	0.52595	0	0.289287	0.05216	2	0.779548	0.98927	0	0.711	0.71501	0	.	.	4.64	3.57	0.40014	-0.195000	0.09546	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8693:0.0:0.1307	7.286	0.25514	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	541.98	40	chr19	8324457	.	C	T	541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=818;ExcessHet=0.0000;FS=5.345;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.69;ReadPosRankSum=-1.073e+00;SOR=1.458	GT:AD:DP:GQ:PL	0/1:59,22:81:99:556,0,1671	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.702	14.99	1.01	0.786	-0.955	7.596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	9208.93	410	chr19	8888803	.	G	A	9208.93	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.183e+00;DP=10099;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2685;MLEAC=9;MLEAF=0.214;MQ=57.32;MQRankSum=-7.194e+00;QD=2.03;ReadPosRankSum=1.87;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:473,61:534:78:.:.:78,0,18090	12	0	9	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	23587.18	358	chr19	8888822	.	GCTTT	G,*,TCTTT	23587.18	.	AC=17,3,1;AF=0.405,0.071,0.024;AN=42;BaseQRankSum=1.15;DP=9724;ExcessHet=54.0936;FS=9.916;InbreedingCoeff=-1.0000;MLEAC=17,3,1;MLEAF=0.405,0.071,0.024;MQ=57.12;MQRankSum=-1.109e+01;QD=2.75;ReadPosRankSum=0.578;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:291,100,57,0:462:99:.:.:3983,0,12154,1774,10092,14058,4889,12555,14329,17444	0	0	17	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1541.22	352	chr19	8888826	.	T	*,TCCGA	1541.22	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=2.89;DP=8436;ExcessHet=43.6797;FS=10.909;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.52;MQRankSum=-9.389e+00;QD=0.19;ReadPosRankSum=0.933;SOR=1.413	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:302,97,57:456:99:.:.:3184,0,12379,1700,10308,14209	1	0	19	0
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A,	.	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.982	D	.	.	.	.	1.825	L	4.5	T	-1.049	T	0.019	T	0.119	0.149	4.800	1.42	1.067	0.380	6.239	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	1286.53	209	chr19	8908637	.	C	G	1286.53	.	AC=6;AF=0.167;AN=36;BaseQRankSum=2.54;DP=3325;ExcessHet=1.7912;FS=9.333;InbreedingCoeff=-0.2165;MLEAC=7;MLEAF=0.194;MQ=58.51;MQRankSum=-1.077e+01;QD=1.08;ReadPosRankSum=0.914;SOR=1.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:194,25:219:99:.:.:431,0,8071	12	0	6	3
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H,	.	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.553	P	0.146	B	.	.	.	.	1.115	L	4.53	T	-0.965	T	0.005	T	0.122	-0.518	1.634	-2.84	-0.932	-2.451	2.526	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1579	1251.42	202	chr19	8908644	.	C	G	1251.42	.	AC=6;AF=0.158;AN=38;BaseQRankSum=2.54;DP=3367;ExcessHet=1.7912;FS=9.055;InbreedingCoeff=-0.2014;MLEAC=6;MLEAF=0.158;MQ=58.24;MQRankSum=-1.070e+01;QD=1.05;ReadPosRankSum=1.39;SOR=1.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:194,24:218:99:.:.:424,0,8033	13	0	6	2
chr19	9342305	9342305	C	T	exonic	ZNF559	.	nonsynonymous SNV	ZNF559:NM_001202406:exon6:c.C1046T:p.A349V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.011	B	0.001	B	.	.	1.000	N	0.87	L	2.49	T	-0.961	T	0.019	T	0.124	0.258	5.396	-1.73	-0.354	-2.144	3.195	0.007	0.00146812790569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.389e-06	1.368e-06	0	2.795e-06	2.436e-05	2.3e-07	9e-08	4.04e-06	1.51e-06	0	0	0	0	0	0	0	0	2.436e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	0.05341	T	0.259	0.30926	T	0.011	0.15914	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.265	0.09922	N	2.49	0.14531	T	-0.68	0.19509	N	0.101	0.08366	-0.9611	0.38974	T	0.019	0.07986	T	9	0.054489344	0.05810	T	0.001468	0.02241	T	0.007	0.00512	0.279	0.23323	0.1749357433	0.17121	0.00554059669286404	0.00524	0.0144773795761	0.01372	0.207297354937	0.00702	T	0.00608	0.05517	T	-0.370134	0.03587	T	-0.769449	0.02786	T	0.0214476033566154	0.00847	T	0.412159	0.10706	T	0.02541744	0.01478	0.03017111	0.01440	0.02541744	0.01478	0.03017111	0.01440	-3.748	0.20029	T	.	.	0.248	0.48303	B	.;.;.;.	.;.;.;.	-0.652149	0.01435	0.086	0.68061921000604308	0.08543	0.00002	0.00064	N	AEFDGBHCI	0.053306	0.09594	N	-1.41721061236727	0.02487	0.1099089	-1.51610887683272	0.02220	0.1017697	0.00149038263820066	0.08576	0.693126	0.56070	0	0.659464	0.62310	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.99	-1.73	0.07646	-2.388000	0.01137	.	.	-0.427000	0.05212	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.2056:0.5127:0.0:0.2818	3.195	0.06236	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2100.98	40	chr19	9342305	.	C	T	2100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.181e+00;DP=990;ExcessHet=0.0000;FS=2.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=0.820;SOR=0.643	GT:AD:DP:GQ:PL	0/1:101,89:190:99:2115,0,2812	20	0	1	0
chr19	10089677	10089677	G	C	exonic	SHFL	.	nonsynonymous SNV	SHFL:NM_001308277:exon4:c.G216C:p.K72N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.447	B	0.21	B	0.603	N	0.969	N	0.345	N	.	.	-1.020	T	0.048	T	0.129	0.766	8.053	-3.02	-0.358	-0.269	8.877	0.060	0.00835452894133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.23e-05	0.0007	0.0001	8.388e-05	0.0001	7.937e-05	7.411e-05	9.867e-05	9.266e-05	3.012e-05	0	3.881e-05	2.554e-05	0	0	0.0001	5.025e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.096	0.31088	T	0.144	0.92824	T	.	.	.	.	.	.	0.602986	0.10940	N	0.778374	0.969116	0.25769	N	.	.	.	.	.	.	-2.3	0.51157	N	0.451	0.54409	-1.0203	0.23616	T	0.048	0.20355	T	9	0.11713013	0.22113	T	0.008355	0.22105	T	0.060	0.17295	0.149	0.05238	0.257342827899	0.25358	0.7671544330350812	0.76664	1.27764482569	0.82445	.	.	.	.	.	.	-0.228678	0.16824	T	-0.566257	0.15794	T	0.318100303411484	0.25744	T	0.765923	0.40183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.81635	P	.;.;.;.;.	.;.;.;.;.	0.889740	0.12634	9.157	0.94812326393072077	0.25574	0.63549	0.32124	D	AEFDBCI	0.495824	0.53103	N	-0.944719638248053	0.09811	0.4660345	-0.912159081172477	0.11806	0.6037553	0.999561478255562	0.40425	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.07	-3.02	0.05116	-0.259000	0.08742	0.264000	0.16579	-0.855000	0.02678	0.979000	0.35152	0.967000	0.29559	0.342000	0.25479	0.5074:0.0:0.4926:0.0	8.877	0.34512	883	0.28872	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	207.46	82	chr19	10089677	.	G	C	207.46	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.463e+00;DP=2074;ExcessHet=1.7912;FS=272.777;InbreedingCoeff=-0.1689;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=0.605;SOR=12.318	GT:AD:DP:GQ:PL	0/1:67,25:92:4:4,0,1480	15	0	6	0
chr19	10093450	10093450	C	T	exonic	ANGPTL6	.	nonsynonymous SNV	ANGPTL6:NM_001321411:exon5:c.G1121A:p.R374H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.47	M	-1.22	T	0.668	D	0.711	D	0.624	4.713	26.2	4.47	2.360	2.428	16.118	0.725	0.152227399701	7.7e-05	.	1.649e-05	9.63e-05	8.639e-05	0	0	0	0	0	1.29e-05	2	154602	rs141758652	1.163e-05	1.163e-05	6.806e-06	1.65e-05	0.0002	7.08e-06	5.79e-06	8.35e-06	3.88e-06	0	4.472e-05	0	5.038e-05	0	0.0002	9.892e-06	1.656e-05	0	1.314e-05	1.313e-05	2.57e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.007	0.69154	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.67	0.94359	H	-1.22	0.78752	T	-4.52	0.78302	D	0.595	0.61426	0.668	0.92772	D	0.711	0.90086	D	10	0.76511407	0.76643	D	0.152227	0.83368	D	0.725	0.90324	.	.	0.855464098089	0.85406	0.6731081414823962	0.67248	.	.	0.566321253777	0.48158	T	0.134576	0.76200	T	-0.0103794	0.50212	T	-0.0160172	0.69292	D	0.814988203550835	0.47405	D	0.937606	0.76517	D	0.8520877	0.87490	0.71676236	0.83281	0.8520877	0.87492	0.71676236	0.83282	-9.943	0.73570	D	.	.	0.363	0.62489	A	.;.;.	.;.;.	5.148056	0.86218	28.8	0.99953693462403714	0.99963	0.25310	0.22660	N	AEFDGBHCI	0.863287	0.78179	D	0.733928169279595	0.81858	7.62129	0.625978405126618	0.76832	6.564289	0.999999999999923	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.47	4.47	0.53770	1.614000	0.36522	4.889000	0.45745	0.545000	0.25583	0.920000	0.31959	1.000000	0.68203	0.954000	0.50415	0.0:1.0:0.0:0.0	16.118	0.81133	888	0.27761	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1821.98	33	chr19	10093450	.	C	T	1821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=833;ExcessHet=0.0000;FS=1.295;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=0.013;SOR=0.864	GT:AD:DP:GQ:PL	0/1:74,74:148:99:1836,0,1595	20	0	1	0
chr19	10284465	10284465	G	A	exonic	ICAM1	.	nonsynonymous SNV	ICAM1:NM_000201:exon5:c.G988A:p.V330M,	.	.	0	1508	13	1	0	15	0.00494886	.	.	727843	not_provided|ICAM1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.998	D	0.913	D	0.034	N	1.000	N	2.43	M	2.78	T	-1.118	T	0.059	T	0.333	2.798	15.32	1.76	1.068	1.025	5.135	0.078	0.00794922490352	0.0016	0.00159744	0.0021	0	0.0012	0	0.0003	0.0023	0.0045	0.0050	0.0018758	290	154602	rs146134321	0.0015	0.0015	0.0014	0.0017	0.0055	0.0015	0.0014	0.0040	0.0038	0.0002	0.0010	0.0036	0	0.0002	0.0055	0.0014	0.0017	0.0043	0.0013	0.0013	0.0013	0.0013	0.0043	0.0011	0.0011	0.0029	0.0024	0.0002	0	0.0008	0.0046	0.0002	0.0002	0.0034	0.0019	0.0028	0.0043	0.001	0.78490	D	0.002	0.79402	D	0.987	0.73220	D	0.913	0.64886	D	0.033892	0.24840	N	0.192276	0.999989	0.18198	N	2.145	0.60081	M	2.78	0.11298	T	-2.69	0.58733	D	0.344	0.38541	-1.1178	0.02476	T	0.059	0.24760	T	10	0.006626159	0.00150	T	0.007949	0.21084	T	0.078	0.22779	.	.	0.608747212676	0.60560	0.39170349706882157	0.39085	0.652655157273	0.58445	0.453022837639	0.32357	T	0.148967	0.48776	T	-0.472956	0.00815	T	-0.451467	0.27535	T	0.0384687512636429	0.03416	T	0.775622	0.40735	T	0.4935675	0.66715	0.3004436	0.56078	0.4935675	0.66716	0.3004436	0.56077	-7.803	0.59720	D	.	.	0.275	0.51165	B	.;.	.;.	2.936750	0.39031	20.9	0.99699861672834467	0.80522	0.42960	0.26993	N	AEFDBCI	0.137429	0.25841	N	-0.000210577087281644	0.41845	2.510376	-0.21386782100428	0.31037	1.752842	0.266614902363048	0.18848	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	4.1	1.76	0.23776	1.339000	0.33489	4.162000	0.42217	0.676000	0.76740	0.820000	0.29989	1.000000	0.68203	0.003000	0.05239	0.1171:0.2129:0.6701:0.0	5.135	0.14262	592	0.68746	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	0.02381	1983.98	40	chr19	10284465	.	G	A	1983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.150e-01;DP=953;ExcessHet=0.0000;FS=1.984;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=0.445;SOR=0.663	GT:AD:DP:GQ:PL	0/1:79,79:158:99:1998,0,1980	20	0	1	0
chr19	10552121	10552121	G	C	exonic	ATG4D	.	nonsynonymous SNV	ATG4D:NM_001281504:exon8:c.G933C:p.E311D	.	.	426	1076	20	0	0	20	0.0092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.771	P	0.348	B	0.000	D	1.000	D	0.895	L	0.99	T	-1.095	T	0.084	T	0.355	2.583	14.60	4.12	1.305	7.012	14.217	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1524.98	35	chr19	10552121	.	G	C	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.001e+00;DP=879;ExcessHet=0.0000;FS=2.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.882e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/1:68,69:137:99:1539,0,1698	20	0	1	0
chr19	11447529	11447531	GAG	-	exonic	PRKCSH	.	nonframeshift deletion	PRKCSH:NM_001289102:exon10:c.940_942del:p.E325del	Polycystic liver disease 1, Autosomal dominant	.	0	61	87	26	52	191	0.532567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	61194.9	119	chr19	11447525	.	AGAGGAG	A,AGAG	61194.9	.	AC=5,21;AF=0.119,0.500;AN=42;BaseQRankSum=-4.730e-01;DP=3206;ExcessHet=4.5793;FS=1.171;InbreedingCoeff=-0.2115;MLEAC=5,21;MLEAF=0.119,0.500;MQ=60.00;MQRankSum=0.00;QD=26.39;ReadPosRankSum=0.563;SOR=0.619	GT:AD:DP:GQ:PL	0/2:64,3,73:140:99:2717,2836,5818,0,2536,2360	2	0	2	0
chr19	11906039	11906039	G	C	exonic	ZNF69	.	nonsynonymous SNV	ZNF69:NM_001364730:exon4:c.G1642C:p.V548L	.	.	420	1099	2	1	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	.	.	.	.	.	.	1.000	N	.	.	2.5	T	-0.941	T	0.013	T	0.053	-1.063	0.180	-2.71	-0.768	-12.541	4.032	0.001	0.000324943837177	.	0.000599042	0.0003	0	0	0	0	6.033e-05	0	0.0020	0.0002587	40	154602	rs202060545	0.0001	0.0001	6.809e-05	0.0002	0.0026	0.0001	0.0001	0.0016	0.0013	0	2.244e-05	0	0	0	0.0026	1.709e-05	0.0003	0.0015	8.566e-05	8.541e-05	7.735e-05	9.436e-05	0.0021	4.971e-05	3.973e-05	0.0011	0.0009	0	0	0	0	0	0	0	4.417e-05	0	0.0021	0.432	0.09486	T	0.53	0.10103	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.265	0.03777	N	2.5	0.14408	T	-0.14	0.09135	N	0.07	0.04307	-0.9412	0.42426	T	0.013	0.04890	T	6	0.010077745	0.00226	T	3.25E-4	0.00031	T	0.001	0.00016	0.43	0.47843	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.003593	0.03000	T	-0.738297	0.00021	T	-0.857916	0.00865	T	0.0142603744471639	0.00283	T	0.0534947	0.00382	T	0.029335935	0.02411	0.033787157	0.02332	0.029335935	0.02411	0.033787157	0.02332	-2.501	0.05788	T	.	.	0.340	0.55923	A	.	.	-0.895926	0.00932	0.035	0.40174222169369039	0.02819	0.00001	0.00044	N	AEFBHCI	.	.	.	-1.79734192705202	0.00551	0.02375106	-2.02492024328055	0.00271	0.01196185	7.19797375346599E-4	0.07685	0.553676	0.25195	0	0.588015	0.36545	0	0.575934	0.27490	0	0.567892	0.33627	0	.	.	1.35	-2.71	0.05633	-7.972000	0.00034	.	.	-2.836000	0.00176	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2021:0.0:0.6025:0.1954	4.032	0.09197	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2400.98	42	chr19	11906039	.	G	C	2400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=882;ExcessHet=0.0000;FS=6.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=1.02;SOR=0.850	GT:AD:DP:GQ:PL	0/1:93,84:177:99:2415,0,2496	20	0	1	0
chr19	12145436	12145436	C	A	exonic	ZNF625	.	nonsynonymous SNV	ZNF625:NM_145233:exon4:c.G980T:p.G327V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	1.000	D	2.87	M	4.74	T	-1.119	T	0.024	T	0.387	3.231	16.83	1.13	0.933	0.526	8.135	0.070	0.00921356210122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.81001	D	.	.	.	4.74	0.01604	T	-8.08	0.96650	D	0.322	0.36254	-1.1190	0.02395	T	0.024	0.10058	T	9	0.28117174	0.45693	T	0.009214	0.24201	T	0.070	0.20419	.	.	0.387202362727	0.38337	0.014718027190246539	0.01428	1.46662889	0.86454	0.307346314192	0.11506	T	.	.	.	-0.152395	0.27938	T	-0.456682	0.26962	T	0.978127121925354	0.72173	D	0.070293	0.00512	T	.	.	.	.	.	.	.	.	-9.698	0.72084	D	.	.	0.889	0.82035	P	.	.	1.943143	0.24678	16.49	0.9938517383676313	0.62068	0.13413	0.17842	N	AEFBHCI	0.086592	0.17557	N	-0.082708758537272	0.38151	2.230083	-0.37715886009903	0.25679	1.413684	0.784413555268316	0.23903	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	1.13	1.13	0.19758	0.292000	0.18766	.	.	0.313000	0.19204	0.000000	0.06391	0.000000	0.08366	0.632000	0.32210	0.0:1.0:0.0:0.0	8.135	0.30210	929	0.16858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2249.98	46	chr19	12145436	.	C	A	2249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.205e+00;DP=946;ExcessHet=0.0000;FS=1.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=0.860;SOR=0.572	GT:AD:DP:GQ:PL	0/1:122,91:213:99:2264,0,3303	20	0	1	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	57518.43	140	chr19	12430730	.	A	C,*	57518.43	.	AC=18,3;AF=0.429,0.071;AN=42;BaseQRankSum=-2.194e+00;DP=3284;ExcessHet=2.0051;FS=0.000;InbreedingCoeff=-0.0476;MLEAC=18,3;MLEAF=0.429,0.071;MQ=58.31;MQRankSum=-5.036e+00;QD=22.67;ReadPosRankSum=-5.040e-01;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,63,0:159:99:0|1:12430718_C_A:2301,0,3841,2590,4031,6621:12430718	5	4	10	0
chr19	12737528	12737528	G	C	exonic	GET3	.	nonsynonymous SNV	GET3:NM_004317:exon1:c.G23C:p.W8S	.	.	.	.	.	.	.	.	.	.	.	3258260	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	0.02	B	0.007	B	0.000	D	1.000	D	0	N	1.03	T	-1.075	T	0.051	T	0.531	2.997	15.99	4.44	2.468	2.159	10.110	0.118	0.00880770338183	.	.	0.0003	0.0002	0.0012	0	0	0.0002	0	0.0002	0.0001358	21	154602	rs138730527	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	0.0003	0.0003	0.0003	0	8.184e-05	0.0002	0.0002	8.883e-05	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0004	7.572e-05	6.277e-05	7.285e-05	4.239e-05	0.0001	0	6.539e-05	0	0	9.413e-05	0	0.0001	0.0005	0.0004	0.221	0.18889	T	0.02	0.58613	D	0.02	0.18235	B	0.007	0.12992	B	0.000011	0.62929	D	0.000000	0.999938	0.51612	D	0.345	0.11182	N	1.03	0.40469	T	0.18	0.05035	N	0.378	0.49420	-1.0755	0.08246	T	0.051	0.21844	T	10	0.052227944	0.05225	T	0.008808	0.23245	T	0.118	0.32913	.	.	0.245660935333	0.24156	0.8350229382743952	0.83461	1.09219383268	0.77473	0.650475859642	0.60053	T	0.275755	0.64830	T	-0.316226	0.07211	T	-0.364053	0.37583	T	0.0535659979425459	0.06115	T	0.509849	0.16238	T	0.099374495	0.23451	0.15846443	0.37004	0.099374495	0.23451	0.15846443	0.37003	0.55	0.00203	T	.	.	0.137	0.30555	B	.;.;.	.;.;.	3.031185	0.40599	21.2	0.9675835927569777	0.30990	0.95770	0.66080	D	ALL	0.549763	0.56251	D	-0.26297512599319	0.30588	1.707021	-0.0523371076160095	0.37390	2.188525	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.44	4.44	0.53164	3.094000	0.49919	.	.	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.094:0.0:0.906:0.0	10.110	0.41728	671	0.60868	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1353.98	35	chr19	12737528	.	G	C	1353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.378e+00;DP=861;ExcessHet=0.0000;FS=1.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.34;ReadPosRankSum=2.03;SOR=0.640	GT:AD:DP:GQ:PL	0/1:84,61:145:99:1368,0,2198	20	0	1	0
chr19	12930703	12930703	G	A	exonic	FARSA	.	nonsynonymous SNV	FARSA:NM_004461:exon2:c.C194T:p.A65V,	.	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.01	B	0.006	B	0.040	N	1.000	N	1.125	L	0.46	T	-0.895	T	0.194	T	0.291	1.978	12.57	5.51	2.598	1.366	18.179	0.082	0.020955006997	0.0002	0.000399361	0.0005	9.747e-05	8.661e-05	0	0	0.0003	0.0056	0.0021	0.0004334	67	154602	rs201642345	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0003	0.0018	0.0017	2.987e-05	8.944e-05	0.0018	2.519e-05	1.928e-05	0.0023	0.0002	0.0005	0.0020	0.0003	0.0003	0.0003	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	4.81e-05	0	6.539e-05	0.0014	0	0	0	0.0004	0.0005	0.0010	0.136	0.26085	T	0.143	0.34359	T	0.01	0.15535	B	0.002	0.06944	B	0.039545	0.24158	N	0.450467	1	0.08975	N	0.955	0.23872	L	-0.11	0.64445	T	-1.45	0.38345	N	0.175	0.25745	-0.8955	0.48437	T	0.194	0.54797	T	10	0.012088835	0.00261	T	0.020955	0.43652	T	0.082	0.23913	.	.	0.756655250323	0.75444	0.25911981937470524	0.25825	0.386860189921	0.39976	0.281586050987	0.07714	T	0.028012	0.44393	T	-0.419198	0.01731	T	-0.38171	0.35523	T	0.0379564754746051	0.03324	T	0.758124	0.38892	T	0.12382867	0.29069	0.11492115	0.27742	0.12382867	0.29069	0.11492115	0.27742	-7.046	0.54368	T	.	.	0.098	0.20391	B	.;.;.;.	.;.;.;.	2.162986	0.27555	17.50	0.99634633784691795	0.76264	0.22384	0.21728	N	AEFDGBCI	0.085465	0.17325	N	-0.422838770681668	0.24670	1.333755	-0.33891322304696	0.26854	1.486053	0.999988222606924	0.51787	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.51	5.51	0.81769	1.391000	0.34083	.	.	-0.109000	0.15193	0.003000	0.16062	0.792000	0.26872	0.945000	0.48827	0.0:0.0:1.0:0.0	18.179	0.89702	568	0.70638	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	988.98	35	chr19	12930703	.	G	A	988.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.338;DP=831;ExcessHet=0.0000;FS=3.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.31;ReadPosRankSum=-7.230e-01;SOR=1.078	GT:AD:DP:GQ:PL	0/1:77,42:119:99:1003,0,2061	20	0	1	0
chr19	13207871	13207876	CTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6963del:p.Q2324_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,0,7,0,0,0,0:26:99:0|1:13207856_C_T:185,242,976,0,735,714,242,976,735,976,242,976,735,976,976,242,976,735,976,976,976,242,976,735,976,976,976,976:13207856	2	3	6	0
chr19	13207874	13207876	CTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6960del:p.Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,0,7,0,0,0,0:26:99:0|1:13207856_C_T:185,242,976,0,735,714,242,976,735,976,242,976,735,976,976,242,976,735,976,976,976,242,976,735,976,976,976,976:13207856	2	3	6	0
chr19	13207876	13207876	-	CTG	exonic	CACNA1A	.	nonframeshift insertion	CACNA1A:NM_001127222:exon47:c.6957_6958insCAG:p.Q2325_A2326insQ,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,0,7,0,0,0,0:26:99:0|1:13207856_C_T:185,242,976,0,735,714,242,976,735,976,242,976,735,976,976,242,976,735,976,976,976,242,976,735,976,976,976,976:13207856	2	3	6	0
chr19	13207868	13207876	CTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6966del:p.Q2323_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,0,7,0,0,0,0:26:99:0|1:13207856_C_T:185,242,976,0,735,714,242,976,735,976,242,976,735,976,976,242,976,735,976,976,976,242,976,735,976,976,976,976:13207856	2	3	6	0
chr19	13207862	13207876	CTGCTGCTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6972del:p.Q2321_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,0,7,0,0,0,0:26:99:0|1:13207856_C_T:185,242,976,0,735,714,242,976,735,976,242,976,735,976,976,242,976,735,976,976,976,242,976,735,976,976,976,976:13207856	2	3	6	0
chr19	14054360	14054360	C	A	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1114T:p.V372L	.	.	384	1132	6	0	0	6	0.00264317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.002	B	0.002	B	.	.	1.000	N	1.04	L	1.47	T	-1.007	T	0.039	T	0.092	1.497	10.95	-3.89	-0.601	-0.918	2.021	0.005	0.011933800318	0.0033	0.000599042	0.0052	0.0004	0	0	0.0006	0.0073	0	0.0059	0.0014424	223	154602	rs144226401	0.0038	0.0037	0.0037	0.0039	0.0053	0.0037	0.0037	0.0049	0.0047	0.0007	0.0008	0.0116	2.798e-05	0.0016	0.0021	0.0039	0.0035	0.0053	0.0025	0.0025	0.0027	0.0023	0.0040	0.0023	0.0022	0.0036	0.0035	0.0005	0	0.0004	0.0127	0	0.0016	0.0102	0.0040	0.0019	0.0033	0.224	0.18691	T	0.782	0.04302	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	1.47	0.31987	T	-0.3	0.11913	N	0.047	0.01911	-1.0067	0.27943	T	0.039	0.16806	T	9	0.0069954395	0.00159	T	0.011934	0.30037	T	0.005	0.00259	0.279	0.23323	0.0138822411134	0.00435	0.017054241873843388	0.01660	.	.	0.260060727596	0.04897	T	0.003566	0.02970	T	-0.650173	0.00072	T	-0.705063	0.05554	T	0.000726427621433598	0.00007	T	0.370463	0.08742	T	0.056113504	0.10997	0.036067363	0.02980	0.056113504	0.10997	0.036067363	0.02980	-5.083	0.37727	T	.	.	0.149	0.32922	B	.	.	-0.194749	0.03116	0.497	0.86575495546673287	0.16628	0.06423	0.12427	N	AEFBI	0.153171	0.27798	N	-1.15127304052652	0.05759	0.2633808	-1.24393473734267	0.05222	0.248273	4.9271765366373E-4	0.07150	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.22	-3.89	0.03916	-1.394000	0.02624	-3.831000	0.02508	-0.236000	0.07595	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1407:0.3968:0.2761:0.1864	2.021	0.03295	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2376.98	47	chr19	14054360	.	C	A	2376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=1593;ExcessHet=0.0000;FS=4.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-1.373e+00;SOR=0.572	GT:AD:DP:GQ:PL	0/1:97,95:192:99:2391,0,2241	20	0	1	0
chr19	14054594	14054594	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G880C:p.E294Q	.	.	377	1138	7	0	0	7	0.00306614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.998	D	0.917	D	0.000	D	1.000	N	1.65	L	0.61	T	-0.961	T	0.182	T	0.475	3.278	17.00	2.78	0.496	3.190	7.079	0.201	0.0536577490514	0.0026	0.000599042	0.0047	0	0	0	0	0.0063	0	0.0060	0.0013066	202	154602	rs199511171	0.0034	0.0032	0.0033	0.0035	0.0056	0.0033	0.0033	0.0051	0.0050	0.0007	0.0007	0.0092	2.798e-05	0.0011	0.0023	0.0035	0.0031	0.0056	0.0022	0.0022	0.0024	0.0020	0.0037	0.0020	0.0019	0.0031	0.0030	0.0005	0	0.0004	0.0095	0	0.0009	0.0102	0.0035	0.0014	0.0037	0.0	0.91255	D	0.011	0.64786	D	0.998	0.73220	D	0.917	0.65306	D	0.000005	0.62929	D	0.000000	0.999678	0.20721	N	2.39	0.68882	M	0.61	0.53516	T	-1.1	0.28497	N	0.418	0.45803	-0.9613	0.38936	T	0.182	0.53011	T	10	0.007216245	0.00164	T	0.053658	0.65554	D	0.201	0.48592	.	.	0.110078149338	0.10416	0.1866732163542712	0.18585	.	.	0.600860118866	0.53025	T	0.018438	0.14866	T	-0.36797	0.03698	T	-0.299421	0.44785	T	0.0324353875312854	0.02377	T	0.787921	0.42712	T	0.51312715	0.67862	0.27808836	0.53766	0.51312715	0.67863	0.27808836	0.53765	-6.644	0.51388	T	.	.	0.413	0.60270	A	.	.	4.219136	0.63804	24.6	0.99691951931259748	0.79977	0.92582	0.56051	D	AEFDBI	0.535296	0.55398	D	0.280278859310989	0.55148	3.679251	0.216521193391981	0.50764	3.265031	0.00214477393774695	0.09188	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.92	2.78	0.31702	-0.011000	0.12659	5.909000	0.50995	0.469000	0.21855	0.013000	0.18845	1.000000	0.68203	0.944000	0.48669	0.0:0.7163:0.0:0.2837	7.079	0.24400	824	0.40336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1239.98	47	chr19	14054594	.	C	G	1239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=900;ExcessHet=0.0000;FS=2.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-1.055e+00;SOR=0.422	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1254,0,1167	20	0	1	0
chr19	14089297	14089297	T	0	exonic	SAMD1	.	.	.	.	.	421	931	119	12	39	182	0.0713217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1349.48	33	chr19	14089297	.	T	C,A,*	1349.48	.	AC=1,1,2;AF=0.024,0.024,0.048;AN=42;BaseQRankSum=-1.173e+00;DP=850;ExcessHet=0.0082;FS=7.035;InbreedingCoeff=0.4474;MLEAC=1,1,2;MLEAF=0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=6.96;ReadPosRankSum=1.09;SOR=0.361	GT:AD:DP:GQ:PL	0/1:38,50,0,0:88:99:1000,0,1010,1113,1155,2269,1113,1155,2269,2269	18	0	1	0
chr19	14565825	14565825	G	T	exonic	TECR	.	nonsynonymous SNV	TECR:NM_138501:exon13:c.G881T:p.R294L	Mental retardation, autosomal recessive 14, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.738	P	0.299	B	0.000	D	1.000	D	1.67	L	1.55	T	-1.059	T	0.080	T	0.578	3.083	16.30	4.67	2.158	2.969	15.044	0.136	0.0467973206598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.074e-06	4.104e-06	2.749e-06	1.391e-06	1.181e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	9.041e-07	1.675e-05	1.181e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.179	0.29540	T	0.441	0.35913	B	0.299	0.41006	B	0.000004	0.62929	D	0.062531	0.999994	0.58761	D	1.975	0.53506	M	1.55	0.29866	T	-2.73	0.58085	D	0.588	0.60833	-1.0589	0.12032	T	0.080	0.31824	T	10	0.27323818	0.44872	T	0.046797	0.62625	D	0.136	0.36778	.	.	0.206203607746	0.20212	0.8199194047453828	0.81948	1.89753283995	0.92781	0.587484359741	0.51139	T	0.760	0.93480	D	-0.0683684	0.41588	T	-0.335983	0.40800	T	0.941821694374084	0.61543	D	0.968603	0.90064	D	0.6326973	0.74442	0.41830006	0.65858	0.60582805	0.73005	0.48429114	0.70147	-9.648	0.71778	D	0.343706349741354	0.44132	0.531	0.67077	A	.;.;.	.;.;.	4.062637	0.60307	24.2	0.99690692898536659	0.79909	0.88845	0.48972	D	AEFGBCI	0.652452	0.62584	D	0.114828299077531	0.47155	2.945131	0.181496436204628	0.48834	3.094083	0.999999836839846	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.67	4.67	0.58089	3.779000	0.55085	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.044	0.71475	964	0.07719	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal;3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal;3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1470.98	41	chr19	14565825	.	G	T	1470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.744;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.01;MQRankSum=-1.050e-01;QD=17.10;ReadPosRankSum=0.192;SOR=0.746	GT:AD:DP:GQ:PL	0/1:37,49:86:99:1485,0,1023	20	0	1	0
chr19	14592312	14592312	C	G	exonic	CLEC17A	.	nonsynonymous SNV	CLEC17A:NM_001204118:exon4:c.C231G:p.D77E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.972	D	0.899	P	.	.	1.000	N	-0.345	N	0.04	T	-0.959	T	0.139	T	0.155	0.830	8.347	-2.39	-0.769	-0.665	4.785	0.152	0.0054505841751	.	.	1.624e-05	0	0	0	0	2.935e-05	0	0	3.84e-05	1	26028	rs764674868	2.067e-06	2.052e-06	2.739e-06	1.387e-06	1.179e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	3.33e-05	1.179e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.36310	T	0.31	0.19721	T	0.972	0.57405	D	0.899	0.63802	P	.	.	.	.	1	0.18198	N	0.345	0.11182	N	0.04	0.62051	T	-1.11	0.28703	N	0.394	0.43514	-0.9586	0.39442	T	0.139	0.45791	T	9	0.20563331	0.36797	T	0.005451	0.14015	T	0.152	0.39956	0.127	0.03251	0.412587454835	0.40873	0.015112828977275122	0.01467	3.0674637903	0.99317	0.54123032093	0.44619	T	0.005108	0.04549	T	-0.176971	0.24187	T	-0.491983	0.23182	T	0.188233132688362	0.19740	T	0.515049	0.16594	T	0.06892516	0.15058	0.0551257	0.09611	0.06892516	0.15058	0.0551257	0.09610	-8.719	0.65870	D	.	.	0.808	0.77674	P	.;.	.;.	0.850171	0.12221	8.767	0.94017464690985053	0.24123	0.12213	0.17130	N	AEFBCI	0.034107	0.04168	N	-0.899872830590646	0.10845	0.5203105	-1.07414639793762	0.08212	0.4027593	3.62218883781903E-5	0.03775	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.2	-2.39	0.06223	-1.006000	0.03781	.	.	-0.694000	0.04098	0.800000	0.29721	0.000000	0.08366	0.122000	0.19250	0.0:0.3669:0.0:0.6331	4.785	0.12588	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1412.98	34	chr19	14592312	.	C	G	1412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.313;DP=804;ExcessHet=0.0000;FS=0.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.64;MQRankSum=2.30;QD=11.77;ReadPosRankSum=-1.264e+00;SOR=0.573	GT:AD:DP:GQ:PL	0/1:65,55:120:99:1427,0,1770	20	0	1	0
chr19	15934266	15934266	A	T	exonic	CYP4F11	.	nonsynonymous SNV	CYP4F11:NM_021187:exon1:c.T143A:p.L48H	.	.	408	1080	31	3	0	37	0.0168411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.036	U	1.000	N	2.045	M	-4.34	D	0.437	D	0.876	D	0.342	1.853	12.16	1.15	0.283	4.594	5.460	0.346	.	0.0028	0.00299521	0.0046	0.0006	0.0018	0	0.0006	0.0044	0.0099	0.0135	0.0041979	649	154602	rs144570608	0.0046	0.0046	0.0042	0.0050	0.0144	0.0045	0.0044	0.0132	0.0129	0.0007	0.0019	0.0031	2.519e-05	0.0007	0.0144	0.0044	0.0052	0.0138	0.0029	0.0030	0.0031	0.0028	0.0108	0.0027	0.0026	0.0085	0.0076	0.0008	0.0055	0.0021	0.0038	0	0.0005	0.0137	0.0044	0.0024	0.0108	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.036421	0.24525	U	0.316936	1	0.08975	N	3.755	0.95055	H	-4.34	0.97267	D	-5.28	0.88839	D	0.526	0.55540	0.437	0.89649	D	0.876	0.95898	D	10	0.005805701	0.00130	T	.	.	.	0.346	0.66769	.	.	0.542187413537	0.53871	0.7430607826194562	0.74252	0.220839230322	0.24634	0.446682691574	0.31490	T	0.428567	0.77766	T	-0.13998	0.29893	T	0.0253141	0.71974	D	0.119659566035645	0.14397	T	0.911709	0.68863	D	0.23202594	0.45984	0.27280214	0.53194	0.23202594	0.45984	0.27280214	0.53193	-14.393	0.94264	D	.	.	0.622	0.69767	P	.;.;.;.	.;.;.;.	3.131093	0.42311	21.5	0.97493538681267755	0.34256	0.34168	0.25003	N	AEFDBCI	0.268574	0.38504	N	-0.0686690424743155	0.38772	2.276047	-0.331987048678435	0.27071	1.499678	0.998000120437217	0.36301	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.18	1.15	0.19876	2.134000	0.41725	.	.	0.584000	0.30380	0.017000	0.19353	1.000000	0.68203	0.001000	0.02609	0.8435:0.0:0.1565:0.0	5.460	0.15909	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	0.02381	2590.98	34	chr19	15934266	.	A	T	2590.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.587e+00;DP=928;ExcessHet=0.0000;FS=0.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=1.39;SOR=0.745	GT:AD:DP:GQ:PL	0/1:110,113:223:99:2605,0,2658	20	0	1	0
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	4780.38	36	chr19	17286684	.	G	T,*	4780.38	.	AC=7,9;AF=0.175,0.225;AN=40;BaseQRankSum=-8.400e-01;DP=1119;ExcessHet=4.5793;FS=8.883;InbreedingCoeff=-0.2478;MLEAC=7,9;MLEAF=0.175,0.225;MQ=59.96;MQRankSum=0.00;QD=8.55;ReadPosRankSum=0.894;SOR=0.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,35,0:49:99:.:.:1222,0,312,1264,417,1682	6	0	6	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1476.26	36	chr19	17286686	.	GTGTGTT	*,G,TTGTGTT	1476.26	.	AC=9,2,4;AF=0.214,0.048,0.095;AN=42;BaseQRankSum=0.195;DP=1111;ExcessHet=3.1640;FS=2.719;InbreedingCoeff=-0.1486;MLEAC=9,2,4;MLEAF=0.214,0.048,0.095;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=0.928;SOR=0.500	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:36,0,3,7:46:93:.:.:93,196,1582,94,1463,1471,0,1376,1249,1375	8	1	7	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	4769.66	36	chr19	17286688	.	GTGTT	*,G,TTGTT	4769.66	.	AC=11,10,1;AF=0.262,0.238,0.024;AN=42;BaseQRankSum=0.035;DP=1122;ExcessHet=8.0185;FS=14.083;InbreedingCoeff=-0.3339;MLEAC=11,10,1;MLEAF=0.262,0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=7.34;ReadPosRankSum=0.733;SOR=0.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:5,3,38,0:46:49:.:.:1333,1239,1471,0,90,49,1342,1452,175,1539	3	1	6	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	2703.98	18	chr19	17286690	.	GTT	*,G	2703.98	.	AC=19,8;AF=0.452,0.190;AN=42;BaseQRankSum=-1.400e-01;DP=1116;ExcessHet=3.1640;FS=12.346;InbreedingCoeff=-0.0816;MLEAC=19,7;MLEAF=0.452,0.167;MQ=59.97;MQRankSum=0.00;QD=4.53;ReadPosRankSum=0.510;SOR=0.209	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,38,0:46:49:.:.:1333,0,49,1342,175,1539	2	3	9	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	2556.62	16	chr19	17286692	.	T	*,G	2556.62	.	AC=29,9;AF=0.690,0.214;AN=42;BaseQRankSum=-3.190e-01;DP=1109;ExcessHet=0.6776;FS=2.075;InbreedingCoeff=-0.1052;MLEAC=29,9;MLEAF=0.690,0.214;MQ=59.98;MQRankSum=0.00;QD=3.57;ReadPosRankSum=1.19;SOR=0.451	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:5,41,0:46:6:.:.:1900,6,0,1744,177,1982	0	10	3	0
chr19	17301511	17301511	C	T	exonic	ABHD8	.	nonsynonymous SNV	ABHD8:NM_024527:exon2:c.G106A:p.V36I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.243	B	0.097	B	0.000	D	0.932	D	0.895	L	1.21	T	-1.044	T	0.067	T	0.178	3.134	16.47	5.24	2.456	1.452	12.094	0.038	0.012002826869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	1.368e-06	1.364e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.152	0.41074	T	0.243	0.30970	B	0.097	0.30390	B	0.000153	0.49130	D	0.136542	0.931935	0.37005	D	2.125	0.59049	M	1.21	0.37230	T	-0.07	0.08033	N	0.266	0.30118	-1.0441	0.16089	T	0.067	0.27399	T	10	0.17251524	0.32029	T	0.012003	0.30173	T	0.038	0.09825	0.205	0.12076	0.043077524339	0.03247	0.37210292206754014	0.37124	0.801550311502	0.66277	0.764395534992	0.76584	T	0.025579	0.19097	T	-0.167046	0.25681	T	-0.477726	0.24689	T	0.523666322231293	0.33500	D	0.872813	0.58002	D	0.096961536	0.22848	0.06732709	0.13913	0.096961536	0.22847	0.06732709	0.13913	-4.433	0.30001	T	.	.	0.093	0.52351	B	.;.;.	.;.;.	3.278169	0.44906	22.0	0.99764565443977093	0.85335	0.92541	0.55954	D	AEFBI	0.289607	0.40121	N	-0.0617100502342355	0.39081	2.299004	0.10365698285848	0.44734	2.749563	0.999973089649347	0.50053	0.651	0.46895	0	0.643519	0.57511	0	0.606735	0.37207	0	0.683762	0.67416	0	.	.	5.24	5.24	0.72863	1.496000	0.35246	7.584000	0.61047	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.8263:0.1737:0.0	12.094	0.53044	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	890.98	33	chr19	17301511	.	C	T	890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.517e+00;DP=818;ExcessHet=0.0000;FS=3.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.075;SOR=0.500	GT:AD:DP:GQ:PL	0/1:43,35:78:99:905,0,1197	20	0	1	0
chr19	18173892	18173892	G	-	exonic	IFI30	.	frameshift deletion	IFI30:NM_006332:exon1:c.51delG:p.D18Tfs*15,	.	.	396	1111	13	1	1	16	0.00670541	.	.	2811840	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	.	0.0010	0	0.0074	0	0	0.0007	0.0149	0.0010	0.000207	32	154602	rs764788458	0.0005	0.0005	0.0005	0.0006	0.0163	0.0005	0.0005	0.0137	0.0127	6.329e-05	0.0021	0.0005	0	6.196e-05	0.0163	0.0004	0.0011	0.0015	0.0006	0.0006	0.0005	0.0006	0.0025	0.0005	0.0004	0.0019	0.0017	0.0001	0	0.0025	0	0	9.407e-05	0.0068	0.0004	0.0019	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2108.94	40	chr19	18173891	.	TG	T	2108.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.940e-01;DP=929;ExcessHet=0.0000;FS=3.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=2.65;SOR=0.458	GT:AD:DP:GQ:PL	0/1:83,69:152:99:2123,0,2638	20	0	1	0
chr19	19500171	19500171	T	C	exonic	GATAD2A	.	nonsynonymous SNV	GATAD2A:NM_001384537:exon9:c.T1250C:p.L417P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	36.98	57	chr19	19500171	.	T	C	36.98	.	AC=2;AF=0.091;AN=22;DP=57;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3700;MLEAC=2;MLEAF=0.091;MQ=60.00;QD=18.49;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	10	1	0	10
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18756.49	70	chr19	20624371	.	G	GA,*	18756.49	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=0.690;DP=1784;ExcessHet=0.5115;FS=0.701;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.42;MQRankSum=-3.529e+00;QD=16.03;ReadPosRankSum=1.59;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,37,0:129:99:0|1:20624371_G_GA:1253,0,3727,1530,3838,5368:20624371	0	4	3	7
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18081.55	70	chr19	20624379	.	C	T,*	18081.55	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=-4.660e-01;DP=1782;ExcessHet=0.5115;FS=0.686;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.41;MQRankSum=-3.245e+00;QD=15.23;ReadPosRankSum=-4.350e-01;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,44,0:139:99:0|1:20624371_G_GA:1192,0,3805,1478,3921,5399:20624371	0	4	3	7
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2164.49	46	chr19	21383393	.	G	T,*	2164.49	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=0.252;DP=1021;ExcessHet=0.1217;FS=4.260;InbreedingCoeff=0.2222;MLEAC=3,3;MLEAF=0.071,0.071;MQ=59.82;MQRankSum=0.00;QD=6.66;ReadPosRankSum=0.637;SOR=0.514	GT:AD:DP:GQ:PL	0/2:56,0,48:104:99:1780,1949,4300,0,2351,2196	16	0	2	0
chr19	22314444	22314444	A	G	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.A1027G:p.T343A,	.	.	430	1085	5	0	2	7	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	.	.	1.63	L	5.48	T	-0.968	T	0.005	T	0.21	0.307	5.664	-0.855	-0.618	2.523	4.317	0.086	0.00225949283744	.	.	0.0002	0.0001	0.0003	0	0.0002	0.0002	0	0	0.0001229	19	154602	rs764887966	0.0028	0.0041	0.0026	0.0030	0.0085	0.0027	0.0027	0.0078	0.0075	0.0006	0.0074	0.0019	0.0085	0.0053	0.0030	0.0020	0.0041	0.0072	0.0018	0.0040	0.0016	0.0019	0.0051	0.0016	0.0015	0.0035	0.0032	0.0002	0	0.0044	0.0003	0.0008	0.0019	0	0.0022	0.0010	0.0051	.	.	.	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9	0.50570	L	5.48	0.00939	T	.	.	.	0.196	0.21580	-0.9677	0.37673	T	0.005	0.01506	T	6	0.0062211454	0.00140	T	0.002259	0.04314	T	.	.	.	.	0.0297737177859	0.01360	0.006950557827424315	0.00662	0.0117517464384	0.01108	0.406716108322	0.26003	T	0.013321	0.11547	T	-0.600712	0.00144	T	-0.630952	0.10343	T	0.00283690446206348	0.00030	T	0.00827695	0.00038	T	0.054282665	0.10392	0.09702577	0.23077	0.054282665	0.10391	0.09702577	0.23077	-7.621	0.58457	D	.	.	0.091	0.13080	B	.	.	1.310056	0.17132	12.98	0.43167113511087324	0.03231	0.35119	0.25227	N	AEFBCI	0.071668	0.14277	N	-0.7708437796746	0.14074	0.6981655	-0.983818581312014	0.10148	0.5092959	1.31273438236576E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.428	-0.855	0.10158	1.106000	0.30712	.	.	0.221000	0.18078	0.006000	0.17386	0.000000	0.08366	0.095000	0.18041	0.513:0.0:0.0:0.487	4.317	0.10440	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	453.11	35	chr19	22314444	.	A	G	453.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=5.96;DP=893;ExcessHet=0.1072;FS=4.011;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.02;MQRankSum=-9.618e+00;QD=1.96;ReadPosRankSum=-3.277e+00;SOR=1.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,15:108:99:0|1:22314389_T_A:350,0,3860:22314389	19	0	2	0
chr19	22314450	22314450	A	G	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.A1033G:p.K345E,	.	.	440	1076	5	0	1	6	0.00231803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	.	.	-1.17	N	5.2	T	-0.936	T	0.001	T	0.053	-1.942	0.007	-0.855	-0.363	0.838	4.972	0.033	0.00333158294545	.	.	5.541e-05	0	0.0002	0	0	6.6e-05	0	0	0.0003816	59	154602	rs752366075	0.0029	0.0037	0.0026	0.0031	0.0086	0.0028	0.0027	0.0079	0.0076	0.0007	0.0078	0.0018	0.0086	0.0051	0.0034	0.0020	0.0040	0.0077	0.0015	0.0026	0.0015	0.0016	0.0041	0.0014	0.0013	0.0032	0.0029	0.0002	0	0.0041	0.0003	0.0004	0.0020	0	0.0018	0.0010	0.0038	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.41	0.02942	N	5.2	0.01165	T	.	.	.	0.122	0.11340	-0.9363	0.43195	T	0.001	0.00438	T	6	0.004689902	0.00099	T	0.003332	0.07421	T	.	.	.	.	0.0297737177859	0.01360	0.0051363204341247	0.00484	0.00843398898925	0.00763	0.340432047844	0.16503	T	0.001359	0.00832	T	-0.709598	0.00032	T	-0.787219	0.02242	T	0.0043571927721879	0.00046	T	0.0333967	0.00218	T	0.04407289	0.06981	0.07494415	0.16448	0.04407289	0.06980	0.07494415	0.16447	-3.21	0.12603	T	.	.	0.055	0.00375	B	.	.	-0.312286	0.02564	0.312	0.10639762865508966	0.00139	0.00464	0.02234	N	AEFBCI	0.022318	0.01100	N	-1.38802286606169	0.02749	0.1218538	-1.50363747807456	0.02316	0.106327	2.22081306905671E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.428	-0.855	0.10158	1.281000	0.32819	.	.	0.221000	0.18078	0.916000	0.31843	0.000000	0.08366	0.072000	0.16771	0.4601:0.0:0.5399:0.0	4.972	0.13467	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	525.11	35	chr19	22314450	.	A	G	525.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.04;DP=899;ExcessHet=0.1072;FS=8.298;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.11;MQRankSum=-9.696e+00;QD=2.22;ReadPosRankSum=-2.666e+00;SOR=1.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,16:111:99:0|1:22314389_T_A:386,0,3941:22314389	19	0	2	0
chr19	22314465	22314465	C	T	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.C1048T:p.R350C,	.	.	472	1044	5	0	1	6	0.00238892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	.	.	-4.015	N	3.71	T	-0.921	T	0.001	T	0.145	-2.236	0.005	-0.74	-0.976	2.845	4.927	0.185	0.0184740447539	.	.	0.0002	0	0.0013	0	0	8.252e-05	0	0	0.0003234	50	154602	rs201406037	0.0033	0.0040	0.0030	0.0036	0.0097	0.0032	0.0032	0.0089	0.0086	0.0007	0.0097	0.0019	0.0092	0.0060	0.0032	0.0023	0.0044	0.0092	0.0019	0.0027	0.0018	0.0020	0.0048	0.0017	0.0016	0.0034	0.0031	0.0003	0	0.0043	0.0006	0.0007	0.0019	0	0.0024	0.0016	0.0048	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.02	0.00000	N	3.71	0.04046	T	.	.	.	0.156	0.16168	-0.9207	0.45458	T	0.001	0.00467	T	6	0.0044113398	0.00090	T	0.018474	0.40544	T	.	.	.	.	0.0401082797425	0.02173	0.020438225714581044	0.01996	0.00840729258209	0.00763	0.414145559072	0.27030	T	0.018832	0.15112	T	-0.644589	0.00078	T	-0.693979	0.06161	T	0.0142267395408211	0.00281	T	0.0223978	0.00128	T	0.08629841	0.20053	0.05714741	0.10338	0.08629841	0.20052	0.05714741	0.10338	5.204	0.00003	T	.	.	0.061	0.01109	B	.	.	-0.208399	0.03048	0.470	0.070424718442111081	0.00034	0.01043	0.03895	N	AEFBCI	0.015277	0.00283	N	-1.6186583232605	0.01174	0.05103847	-1.57158557712141	0.01831	0.08343255	3.89720637538446E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	-0.74	0.10555	2.277000	0.43076	.	.	-1.104000	0.01503	0.987000	0.36337	0.000000	0.08366	0.007000	0.07825	0.0:0.2175:0.0:0.7825	4.927	0.13252	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	782.11	35	chr19	22314465	.	C	T	782.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.18;DP=905;ExcessHet=0.1072;FS=10.712;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.14;MQRankSum=-9.070e+00;QD=3.27;ReadPosRankSum=-1.365e+00;SOR=1.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,20:117:99:0|1:22314389_T_A:541,0,3996:22314389	19	0	2	0
chr19	23146384	23146384	C	T	exonic	ZNF730	.	nonsynonymous SNV	ZNF730:NM_001277403:exon4:c.C1340T:p.T447I,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.708	D	2.35	M	.	.	-0.400	T	0.273	T	0.19	2.506	14.34	0.819	0.283	1.398	8.541	0.063	0.00154795890084	.	0.000199681	0.0002	0	0	0	0	0.0004	0.0023	0	0.0001876	29	154602	rs200645540	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	7.546e-05	0	0	0.0067	0	0	0.0005	2.518e-05	0.0003	0.0001	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0001	.	.	0	0	0	0.0081	0	0	0	1.475e-05	0.0014	0.0002	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	0.707781	0.33487	D	2.54	0.74080	M	1.78	0.25678	T	.	.	.	0.189	0.20660	-0.3996	0.72039	T	0.273	0.64515	T	6	0.00902316	0.00204	T	0.001548	0.02445	T	.	.	.	.	0.119812018005	0.11559	0.013660163864844126	0.01324	0.0202108672299	0.01983	0.570133268833	0.48696	T	0.079542	0.36154	T	-0.38658	0.02830	T	-0.556404	0.16716	T	0.118052012502486	0.14238	T	0.312169	0.06100	T	0.17069332	0.37660	0.14562543	0.34530	0.17069332	0.37659	0.14562543	0.34529	-7.648	0.58645	D	.	.	0.338	0.55754	B	.	.	2.015776	0.25613	16.83	0.9847695711006631	0.41931	0.48382	0.28194	N	AEFDBHCI	0.116848	0.22916	N	-0.3965796541187	0.25591	1.390296	-0.618870336866138	0.19008	1.018006	0.0159708278108529	0.12776	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	0.819	0.819	0.17926	0.796000	0.26646	.	.	-0.761000	0.03509	0.258000	0.24929	0.000000	0.08366	0.006000	0.07323	0.0:1.0:0.0:0.0	8.541	0.32556	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1540.98	39	chr19	23146384	.	C	T	1540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.930e-01;DP=952;ExcessHet=0.0000;FS=4.679;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.823;QD=9.40;ReadPosRankSum=0.923;SOR=1.052	GT:AD:DP:GQ:PL	0/1:99,65:164:99:1555,0,2573	20	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X,	.	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	8.340	40	4.72	2.174	8.944	17.685	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2050.0	174	chr19	32999679	.	G	A	2050.0	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.491e+00;DP=3802;ExcessHet=4.7172;FS=2.492;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=54.90;MQRankSum=-6.014e+00;QD=1.13;ReadPosRankSum=2.20;SOR=0.676	GT:AD:DP:GQ:PL	0/1:196,38:234:99:241,0,5377	12	0	9	0
chr19	34685134	34685134	A	G	exonic	ZNF302	.	nonsynonymous SNV	ZNF302:NM_001012320:exon5:c.A1097G:p.K366R	.	.	416	1095	11	0	0	11	0.00499773	.	.	704917	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.515	P	0.108	B	.	.	1.000	N	1.03	L	2.07	T	-1.036	T	0.016	T	0.013	-0.312	2.516	0.967	0.686	4.259	6.111	0.080	.	0.0075	0.00638978	0.0031	0.0218	0.0040	0	0	0.0015	0.0011	0.0006	0.0028913	447	154602	rs116552744	0.0015	0.0015	0.0016	0.0014	0.0182	0.0014	0.0014	0.0170	0.0165	0.0182	0.0047	0.0091	0	0	0.0131	0.0007	0.0037	0.0005	0.0062	0.0062	0.0063	0.0061	0.0182	0.0059	0.0058	0.0171	0.0167	0.0182	0	0.0045	0.0084	0	0	0.0170	0.0009	0.0113	0.0002	0.0	0.91255	D	0.086	0.83351	T	0.515	0.37421	P	0.108	0.31289	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.07	0.20387	T	-1.02	0.26843	N	0.103	0.11626	-1.0358	0.18606	T	0.016	0.06664	T	9	0.005551189	0.00123	T	.	.	.	0.080	0.23350	.	.	0.180583059064	0.17676	0.007357891255814509	0.00701	0.0474061202709	0.05171	0.308032184839	0.11610	T	0.048564	0.28053	T	-0.631509	0.00094	T	-0.6643	0.07979	T	0.0696614205693027	0.08604	T	0.241376	0.03802	T	.	.	.	.	.	.	.	.	-5.335	0.40288	T	.	.	0.082	0.12228	B	.;.;.;.;.;.	.;.;.;.;.;.	2.568531	0.33279	19.29	0.97247868348400479	0.33029	0.60667	0.31261	D	AEFGBCI	.	.	.	-0.549955337796814	0.20484	1.080221	-0.627682558336319	0.18782	1.004916	0.629236055889213	0.21953	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	0.967	0.967	0.18792	3.140000	0.50281	2.198000	0.31263	0.393000	0.20503	1.000000	0.71638	0.114000	0.22828	0.566000	0.30555	1.0:0.0:0.0:0.0	6.111	0.19321	484	0.77165	Zinc finger C2H2-type;Zinc finger C2H2-type;.;.;.;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2743.98	42	chr19	34685134	.	A	G	2743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.380e-01;DP=1019;ExcessHet=0.0000;FS=5.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.845;SOR=0.537	GT:AD:DP:GQ:PL	0/1:113,105:218:99:2758,0,3006	20	0	1	0
chr19	35033703	35033703	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_001037:exon3:c.G412A:p.V138I	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	.	0	1497	25	0	0	25	0.00828089	.	.	178737	Generalized_epilepsy_with_febrile_seizures_plus,_type_1|Brugada_syndrome_5|Cardiovascular_phenotype|not_specified|Long_QT_syndrome|not_provided	MONDO:MONDO:0011416,MedGen:C1858672,OMIM:604233,Orphanet:36387|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.933	P	0.438	B	0.058	N	0.989	D	0.345	N	-2.23	D	0.604	D	0.795	D	0.096	3.990	20.4	4.22	2.351	1.347	12.276	0.262	.	0.0002	0.0209665	0.0117	0.0011	0.0008	0.0057	0	0.0001	0.0155	0.0804	0.0103621	1602	154602	rs72558029	0.0052	0.0052	0.0031	0.0072	0.0784	0.0051	0.0050	0.0768	0.0762	0.0007	0.0003	0	0.0030	1.872e-05	0.0035	8.453e-05	0.0086	0.0784	0.0034	0.0035	0.0020	0.0049	0.0882	0.0032	0.0031	0.0813	0.0785	0.0009	0	0.0002	0	0.0085	0	0	5.88e-05	0.0052	0.0882	0.398	0.26085	T	0.643	0.24477	T	0.279	0.52105	B	0.013	0.45631	B	0.058319	0.22412	N	0.436536	0.989249	0.40915	D	0.445	0.12748	N	-4.53	0.97713	D	-0.53	0.16393	N	0.041	0.01421	0.604	0.91953	D	0.795	0.93057	D	10	0.0017569363	0.00023	T	.	.	.	0.262	0.57482	.	.	.	.	0.6908096357470496	0.69020	0.712814376389	0.61783	0.553019821644	0.46284	T	0.075724	0.35245	T	-0.332975	0.05890	T	-0.191892	0.55411	T	0.00667188954088941	0.00075	T	0.755224	0.39577	T	0.068868704	0.15040	0.051318746	0.08236	0.089256935	0.20848	0.051318746	0.08236	-3.791	0.29312	T	0.11411305614658733	0.10062	0.075	0.26638	B	.;.;.;.;.	.;.;.;.;.	2.971009	0.39600	21.0	0.99838461454441818	0.91886	0.75004	0.36706	D	AEFBI	0.187454	0.31475	N	-0.0515020911810638	0.39536	2.333031	0.0647403313162013	0.42791	2.594436	0.958561964384985	0.28371	0.706548	0.73137	0	0.610034	0.51514	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	2.945000	0.48735	5.616000	0.49070	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	12.276	0.54054	895	0.25842	.;.;.;.;.	.	.	.	.	.	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	0.04762	6878.11	34	chr19	35033703	.	G	A	6878.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.56;DP=1299;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=-1.130e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/1:182,150:332:99:3570,0,4250	19	0	2	0
chr19	35527135	35527135	C	T	exonic	SBSN	.	nonsynonymous SNV	SBSN:NM_001166034:exon1:c.G1147A:p.A383T,	.	.	411	1109	2	0	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.939	P	0.687	P	.	.	1.000	N	1.04	L	0.76	T	-1.013	T	0.135	T	0.21	1.367	10.50	1.95	1.979	-0.324	10.466	0.089	.	.	0.00299521	0.0044	0.0005	0	0.0027	0	0	0	0.0097	0.000608	94	154602	rs561422483	0.0005	0.0005	0.0003	0.0008	0.0088	0.0005	0.0005	0.0083	0.0081	3.167e-05	2.811e-05	0	0	0	0.0005	0	0.0005	0.0088	0.0002	0.0003	0.0002	0.0003	0.0073	0.0002	0.0002	0.0054	0.0048	0	0	0	0	0.0002	0	0	0	0	0.0073	0.089	0.32141	T	0.208	0.26883	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.12	0.08593	N	0.76	0.49919	T	-0.74	0.20791	N	0.048	0.01999	-1.0127	0.26070	T	0.135	0.44971	T	9	0.004301995	0.00087	T	.	.	.	0.089	0.25827	0.418	0.45873	0.531146924565	0.52762	0.005684572858177928	0.00538	0.851614069957	0.68559	0.226981937885	0.01752	T	0.00531	0.04761	T	-0.574297	0.00209	T	-0.591175	0.13563	T	0.0778758044329252	0.09712	T	0.518348	0.16810	T	0.029413184	0.02432	0.057489067	0.10459	0.029413184	0.02431	0.057489067	0.10458	-3.6	0.17857	T	.	.	0.078	0.06896	B	.	.	0.174503	0.05627	2.081	0.88813781023329608	0.18277	0.06083	0.12057	N	AEFDBI	0.042375	0.06568	N	-0.31027758455136	0.28758	1.588825	-0.456995581347013	0.23351	1.272934	0.00118753857532252	0.08314	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.4	1.95	0.25130	-0.618000	0.05674	-0.389000	0.09488	-0.277000	0.06564	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.6953:0.3047:0.0	10.466	0.43798	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3253.98	169	chr19	35527135	.	C	T	3253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=2429;ExcessHet=0.0000;FS=1.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=0.162;SOR=0.800	GT:AD:DP:GQ:PL	0/1:116,125:241:99:3268,0,2730	20	0	1	0
chr19	35845476	35845476	C	T	exonic	NPHS1	.	nonsynonymous SNV	NPHS1:NM_004646:exon14:c.G1822A:p.V608I,	Nephrotic syndrome, type 1, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	549351	Finnish_congenital_nephrotic_syndrome|Congenital_nephrotic_syndrome|Focal_segmental_glomerulosclerosis|not_specified|not_provided	MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|Human_Phenotype_Ontology:HP:0008677,MONDO:MONDO:0002350,MeSH:C535761,MedGen:C3501848,OMIM:PS256300|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.7	T	0.021	B	0.008	B	0.001	N	0.976	N	1.5	L	-2.09	D	-0.773	T	0.419	T	0.061	1.351	10.44	1.15	0.233	0.206	7.767	0.152	0.14240506107	0.0002	0.000399361	0.0008	0.0001	8.876e-05	0	0	9.332e-05	0.0012	0.0050	0.0006015	93	154602	rs367976914	0.0003	0.0003	0.0001	0.0004	0.0046	0.0003	0.0003	0.0042	0.0041	0	2.237e-05	0	2.519e-05	0	0	2.698e-06	0.0004	0.0046	0.0002	0.0002	0.0002	0.0002	0.0048	0.0001	0.0001	0.0033	0.0028	0	0	0	0	0	0	0	8.82e-05	0	0.0048	0.155	0.30375	T	0.042	0.50809	D	0.021	0.18474	B	0.008	0.13708	B	0.001297	0.39521	N	0.215178	0.975791	0.25413	N	1.395	0.35261	L	-2.09	0.86077	D	0.34	0.03824	N	0.084	0.10340	-0.7732	0.56681	T	0.419	0.76510	T	10	0.009359419	0.00211	T	0.142405	0.82478	D	0.152	0.39956	.	.	0.774140406758	0.77206	0.3686244551593497	0.36776	0.757713701711	0.64085	0.511465907097	0.40427	T	0.327829	0.69830	T	-0.466517	0.00894	T	-0.442355	0.28545	T	0.0128940511416644	0.00221	T	0.669833	0.27843	T	0.085722625	0.19895	0.10824601	0.26072	0.08858965	0.20670	0.09542237	0.22630	-4.851	0.35385	T	0.17195395320445972	0.21703	0.076	0.05979	B	.;.	.;.	1.613968	0.20623	14.83	0.97531160262914396	0.34459	0.37818	0.25848	N	ALL	0.098439	0.19836	N	-0.727764048005726	0.15244	0.7665619	-0.689412544612348	0.17225	0.914936	0.999999964716469	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.56	1.15	0.19876	-0.215000	0.09284	0.438000	0.18395	0.597000	0.34315	0.007000	0.17678	0.825000	0.27162	0.599000	0.31363	0.0:0.7009:0.0:0.2991	7.767	0.28151	824	0.40336	CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1743.98	36	chr19	35845476	.	C	T	1743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.220e-01;DP=847;ExcessHet=0.0000;FS=4.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.00;ReadPosRankSum=-6.540e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/1:39,70:109:99:1758,0,838	20	0	1	0
chr19	37127439	37127439	C	T	exonic	ZNF420	.	stopgain	ZNF420:NM_001329516:exon4:c.C448T:p.R150X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.592	25.0	2.19	1.660	-1.542	8.448	.	.	.	.	8.245e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	.	2.736e-06	2.736e-06	2.723e-06	2.75e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.873e-05	0	2.698e-06	0	0	6.572e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374357	0.88344	D	0.299962	0.88197	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	6.411126	0.95167	34	0.99740776001665898	0.83482	0.00011	0.00159	N	AEFGBCI	0.052108	0.09270	N	0.320207789040213	0.57188	3.885	0.0677518563367714	0.42938	2.606087	0.0270494672820356	0.13750	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.28	2.19	0.26890	-1.833000	0.01789	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.0:0.8743:0.0:0.1257	8.448	0.32013	646	0.63441	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	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1125.98	34	chr19	37127439	.	C	T	1125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.144;DP=801;ExcessHet=0.0000;FS=2.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-2.910e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:58,46:104:99:1140,0,1485	20	0	1	0
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.001	B	.	.	1.000	N	0	N	1.1	T	-1.038	T	0.044	T	0.146	0.505	6.738	0.383	0.403	-0.759	2.678	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	6132.23	64	chr19	37887095	.	C	T	6132.23	.	AC=15;AF=0.500;AN=30;BaseQRankSum=-4.055e+00;DP=2145;ExcessHet=17.4423;FS=296.629;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.600;MQ=60.00;MQRankSum=0.00;QD=3.74;ReadPosRankSum=1.29;SOR=12.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,25:105:99:0|1:37887095_C_T:303,0,2762:37887095	0	0	15	6
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.213	B	0.033	B	.	.	1.000	N	0	N	1.06	T	-1.038	T	0.045	T	0.239	-0.012	3.951	2.35	0.269	1.921	5.276	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	5559.48	64	chr19	37887096	.	A	G	5559.48	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.174e+00;DP=2173;ExcessHet=17.4423;FS=266.005;InbreedingCoeff=-0.7148;MLEAC=18;MLEAF=0.563;MQ=60.00;MQRankSum=0.00;QD=3.41;ReadPosRankSum=1.27;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,25:105:99:0|1:37887095_C_T:303,0,2762:37887095	1	0	15	5
chr19	38130615	38130615	G	A	exonic	SIPA1L3	.	nonsynonymous SNV	SIPA1L3:NM_015073:exon10:c.G2986A:p.A996T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	3.3	M	0.68	T	-0.036	T	0.403	T	0.922	5.523	35	5.33	2.659	9.813	18.161	0.655	0.0464206908229	.	.	1.659e-05	0	0	0.0001	0	1.513e-05	0	0	1.29e-05	2	154602	rs778892254	1.437e-05	1.436e-05	1.634e-05	1.238e-05	2.519e-05	9.24e-06	7.84e-06	9.31e-06	7.61e-06	0	2.236e-05	0	2.519e-05	0	0	1.529e-05	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.36	0.91202	M	0.68	0.51952	T	-3.75	0.71157	D	0.911	0.91276	-0.0356	0.81513	T	0.403	0.75366	T	10	0.89164686	0.88508	D	0.046421	0.62452	D	0.655	0.87035	.	.	0.447589709634	0.44379	0.855686072523831	0.85531	1.27804198574	0.82459	0.726612210274	0.71012	T	0.494895	0.81785	T	0.269504	0.80394	D	0.246202	0.85441	D	0.984099626541138	0.75523	D	0.982402	0.94055	D	0.5939542	0.72364	0.5748821	0.75373	0.5939542	0.72365	0.5748821	0.75374	-11.042	0.79888	D	.	.	0.999	0.97949	P	.	.	5.538539	0.91939	32	0.99933622954937273	0.99488	0.99759	0.99257	D	AEFDBHI	0.885590	0.81623	D	1.00155207177554	0.95791	13.96967	0.926854006633419	0.96639	14.95051	0.999999999982858	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.33	5.33	0.75683	10.003000	0.99689	11.791000	0.96374	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.463000	0.28185	0.0:0.0:1.0:0.0	18.161	0.89640	633	0.64743	PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1712.98	33	chr19	38130615	.	G	A	1712.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.420e-01;DP=819;ExcessHet=0.0000;FS=3.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=0.181;SOR=0.853	GT:AD:DP:GQ:PL	0/1:52,69:121:99:1727,0,1235	20	0	1	0
chr19	38911045	38911045	C	T	exonic	CCER2	.	nonsynonymous SNV	CCER2:NM_001243212:exon4:c.G229A:p.E77K,	.	.	422	1097	3	0	0	3	0.0013655	.	.	2908936	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0046	0.1	0	0	0	0	.	0	0.0003622	56	154602	rs76594356	0.0005	0.0005	0.0006	0.0005	0.0194	0.0005	0.0005	0.0181	0.0176	0.0194	0.0005	0	0.0001	6.525e-05	0.0004	2.195e-05	0.0009	0.0004	0.0045	0.0045	0.0048	0.0043	0.0158	0.0043	0.0041	0.0148	0.0144	0.0158	0	0.0011	0	0	0	0	8.819e-05	0.0033	0.0006	.	.	.	0.09	0.40267	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.153	0.15749	.	.	.	.	.	.	.	0.0030425787	0.00050	T	.	.	.	.	.	.	.	0.191931220699	0.18833	0.028666652913993583	0.02816	0.0196899890321	0.01931	.	.	.	0.055142	0.29924	T	-0.630779	0.00095	T	-0.663251	0.08048	T	.	.	.	.	.	.	0.022388231	0.00899	0.06007532	0.11381	0.022388231	0.00899	0.06007532	0.11381	-4.429	0.29948	T	.	.	0.070	0.03301	B	.	.	0.288304	0.06649	3.146	0.98824000113660249	0.46836	0.02618	0.07200	N	AEFBI	0.119853	0.23373	N	.	.	.	.	.	.	0.00235059025720876	0.09341	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.94	0.195	0.14431	-0.084000	0.11233	-0.708000	0.07763	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.0:0.5863:0.149:0.2647	5.116	0.14168	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	786.98	34	chr19	38911045	.	C	T	786.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.824;DP=766;ExcessHet=0.0000;FS=3.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-5.850e-01;SOR=1.292	GT:AD:DP:GQ:PL	0/1:27,31:58:99:801,0,627	20	0	1	0
chr19	39515516	39515516	C	T	exonic	SELENOV	.	unknown	UNKNOWN,	.	.	386	1127	8	1	0	10	0.00441696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.003	B	0.004	B	.	.	1.000	N	1.28	L	0.56	T	-1.005	T	0.079	T	0.085	2.612	14.69	0.541	0.241	0.726	5.769	0.028	.	.	0.00199681	0.0042	0.0010	0	0	0.0667	0.0075	0	0.0020	0.0015071	233	154602	rs191574540	0.0082	0.0079	0.0085	0.0079	0.0097	0.0081	0.0080	0.0095	0.0095	0.0014	0.0008	0.0013	2.798e-05	0.0104	0.0019	0.0097	0.0045	0.0021	0.0056	0.0056	0.0057	0.0055	0.0095	0.0053	0.0052	0.0089	0.0087	0.0015	0	0.0020	0.0003	0	0.0094	0	0.0095	0.0028	0.0017	0.367	0.14843	T	0.016	0.62352	D	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	0.56	0.54728	T	-2.44	0.54059	N	0.33	0.37093	-1.0047	0.28547	T	0.079	0.31314	T	9	0.004009843	0.00077	T	.	.	.	0.028	0.06331	.	.	0.0611884634855	0.05136	.	.	0.581582476292	0.53953	0.536685943604	0.43978	T	0.038021	0.24688	T	-0.591359	0.00165	T	-0.615542	0.11539	T	0.0136076707393609	0.00252	T	0.447055	0.12542	T	0.06190288	0.12872	0.10301053	0.24705	0.06190288	0.12871	0.10301053	0.24704	.	.	.	.	.	0.133	0.30423	B	.;.;.	.;.;.	1.416614	0.18325	13.68	0.99412204737360155	0.63358	0.04088	0.09549	N	ALL	0.044105	0.07055	N	-0.996890770180758	0.08670	0.4073853	-1.08363377828632	0.08022	0.3926623	0.99999872813711	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	2.81	0.541	0.16359	0.533000	0.22791	.	.	0.541000	0.25215	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6766:0.2:0.1234	5.769	0.17507	814	0.42100	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1357.98	39	chr19	39515516	.	C	T	1357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=808;ExcessHet=0.0000;FS=2.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-1.460e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1372,0,1536	20	0	1	0
chr19	39883386	39883386	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon19:c.G8449A:p.V2817I,	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.001	B	0.001	B	.	.	1.000	N	0.11	N	3.58	T	-0.904	T	0.007	T	0.059	-1.367	0.026	-0.569	-0.126	0.238	4.229	0.004	0.00150558332203	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248057548	0.0004	0.0003	0.0002	0.0006	0.0053	0.0004	0.0003	0.0049	0.0048	0	0	0	0	0	0.0007	0	0.0004	0.0053	0.0002	0.0002	2.631e-05	0.0003	0.0050	0.0001	0.0001	0.0034	0.0029	5.225e-05	0	0	0	0	0	0	0	0	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3054.98	48	chr19	39883386	.	C	T	3054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.233e+00;DP=1783;ExcessHet=0.0000;FS=2.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.96;MQRankSum=-3.123e+00;QD=5.22;ReadPosRankSum=0.800;SOR=0.967	GT:AD:DP:GQ:PL	0/1:409,176:585:99:3069,0,9523	20	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	778.0	37	chr19	40667990	.	CTGT	*,C	778.0	.	AC=25,1;AF=0.595,0.024;AN=42;DP=1037;ExcessHet=0.3152;FS=2.665;InbreedingCoeff=0.2195;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;QD=0.91;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,36,0:36:99:1|1:40667975_C_T:1546,108,0,1546,108,1546:40667975	4	8	8	0
chr19	42375658	42375658	G	A	exonic	MEGF8	.	nonsynonymous SNV	MEGF8:NM_001410:exon41:c.G7220A:p.R2407H	Carpenter syndrome 2, Autosomal recessive	.	427	1075	20	0	0	20	0.00921659	.	.	470314	MEGF8-related_disorder|MEGF8-related_Carpenter_syndrome|not_provided	.|MONDO:MONDO:0013998,MedGen:C3554247,OMIM:614976,Orphanet:65759|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	0.000	D	1.000	D	1.04	L	1.95	T	-1.066	T	0.073	T	0.772	4.955	28.8	4.92	2.451	7.359	17.274	0.277	0.0282121564353	0.0034	0.00259585	0.0050	0.0012	0.0043	0	0.0007	0.0063	0.0033	0.0064	0.0038939	602	154602	rs45623135	0.0051	0.0051	0.0050	0.0052	0.0075	0.0050	0.0050	0.0057	0.0054	0.0012	0.0040	0.0067	7.575e-05	0.0003	0.0075	0.0056	0.0052	0.0053	0.0032	0.0032	0.0035	0.0030	0.0064	0.0030	0.0029	0.0046	0.0043	0.0014	0	0.0032	0.0026	0	9.418e-05	0.0068	0.0049	0.0033	0.0064	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	1.95	0.22474	T	-2.25	0.55501	N	0.359	0.62611	-1.0660	0.10316	T	0.073	0.29451	T	10	0.0077979267	0.00177	T	0.028212	0.50918	D	0.277	0.59375	.	.	0.128874641272	0.12493	0.7386281207333032	0.73807	1.64111292471	0.89373	0.742534101009	0.73346	T	0.204572	0.56338	T	-0.237178	0.15711	T	-0.110854	0.62543	T	0.0203347846755005	0.00733	T	0.914409	0.72946	D	0.24428602	0.47375	0.19751547	0.43537	0.27979955	0.51029	0.18761678	0.42004	-6.094	0.47059	T	.	.	0.250	0.51201	B	.;.;.	.;.;.	5.595620	0.92415	32	0.9994919472077709	0.99931	0.96926	0.71697	D	AEFDBI	0.861296	0.77934	D	0.675632153586274	0.78035	6.791304	0.681636737364255	0.80986	7.422312	0.999999995654211	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	7.400000	0.79189	9.878000	0.82178	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	17.274	0.86995	553	0.71930	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2395.98	34	chr19	42375658	.	G	A	2395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.971;DP=893;ExcessHet=0.0000;FS=1.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=1.29;SOR=0.596	GT:AD:DP:GQ:PL	0/1:77,101:178:99:2410,0,1630	20	0	1	0
chr19	42738888	42738888	A	G	exonic	PSG3	.	nonsynonymous SNV	PSG3:NM_021016:exon2:c.T266C:p.I89T,	.	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.008	B	0.072	B	.	.	1.000	N	1.11	L	-0.09	T	-0.983	T	0.120	T	0.098	-3.187	0.001	-2.79	-1.954	-2.336	2.418	0.072	0.00196530866471	.	.	0.0001	0	0	0	0	1.498e-05	0	0.0007	8.41e-05	13	154602	rs760635644	2.668e-05	2.668e-05	9.529e-06	4.4e-05	0.0004	1.997e-05	1.754e-05	0.0003	0.0003	0	0	0	0	0	0.0002	8.993e-07	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	0.04302	T	0.665	0.06406	T	0.0	0.02946	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	0.79	0.19579	N	-0.09	0.64086	T	-1.12	0.28906	N	0.132	0.13484	-0.9827	0.34375	T	0.120	0.41907	T	9	0.02538395	0.00734	T	0.001965	0.03509	T	0.072	0.21020	0.321	0.30064	0.143124449307	0.13826	0.06946648230740182	0.06884	0.00312182529261	0.00269	0.394799530506	0.24343	T	0.00417	0.13960	T	-0.514773	0.00471	T	-0.627781	0.10584	T	0.033826452315636	0.02608	T	0.144486	0.02052	T	0.03834021	0.05089	0.047848016	0.06980	0.03834021	0.05089	0.047848016	0.06980	-5.197	0.38911	T	.	.	0.121	0.26700	B	.;.;.	.;.;.	-0.196891	0.03105	0.493	0.1013112951104046	0.00120	0.00081	0.00551	N	AEI	0.017634	0.00476	N	-1.72401411525614	0.00760	0.03282354	-1.85807254057788	0.00591	0.0262326	0.0022244019735121	0.09245	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.39	-2.79	0.05494	-1.900000	0.01690	-20.000000	0.00162	-0.469000	0.05095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.411:0.0:0.2692:0.3198	2.418	0.04169	496	0.76301	Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	7916.98	34	chr19	42738888	.	A	G	7916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=1336;ExcessHet=0.0000;FS=0.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=0.00;QD=13.33;ReadPosRankSum=5.000e-03;SOR=0.628	GT:AD:DP:GQ:PL	0/1:297,297:594:99:7931,0,7635	20	0	1	0
chr19	42868780	42868780	C	T	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001330524:exon3:c.G685A:p.D229N	.	.	10	1474	36	0	2	38	0.0120643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.022	B	0.134	B	.	.	1.000	N	2.745	M	2.84	T	-0.902	T	0.035	T	0.134	-1.253	0.050	0.676	0.080	1.980	4.490	0.086	.	.	.	0.0020	0.0213	0.0006	0	0	6.284e-05	0.0012	0.0003	0.0014683	227	154602	rs17420655	0.0007	0.0039	0.0004	0.0010	0.0011	0.0006	0.0006	0.0008	0.0008	0.0009	0.0011	0.0019	0	0.0002	0.0007	0.0007	0.0007	0.0010	0.0031	0.0056	0.0030	0.0032	0.0110	0.0029	0.0028	0.0101	0.0098	0.0110	0	0.0008	0	0	0	0	0.0001	0.0005	0.0002	0.845	0.44029	T	0.361	0.32355	T	0.001	0.18677	B	0.029	0.27321	B	.	.	.	.	0.999996	0.08975	N	2.025	0.55430	M	2.84	0.10674	T	-2.75	0.71639	D	0.347	0.42050	-0.9024	0.47739	T	0.035	0.15117	T	9	0.007892251	0.00179	T	.	.	.	0.086	0.25016	.	.	0.126345400529	0.12197	0.03387732316318568	0.03335	0.00987268019295	0.00898	.	.	.	0.010277	0.10839	T	-0.307771	0.07946	T	-0.679868	0.06991	T	0.00946674713678386	0.00122	T	0.729327	0.49484	T	0.08315202	0.19188	0.08771763	0.20407	0.08315202	0.19188	0.08771763	0.20406	-6.515	0.50425	T	.	.	0.082	0.20741	B	.;.;.;.;.;.	.;.;.;.;.;.	1.353802	0.17619	13.27	0.20392931264867589	0.00731	0.33297	0.24794	N	AEFI	0.037230	0.05088	N	-0.909708983635535	0.10614	0.508056	-0.994187267957953	0.09914	0.4961313	1.20336686153666E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.79	0.676	0.17125	0.384000	0.20396	0.453000	0.18541	-0.806000	0.03109	0.859000	0.30595	0.001000	0.17328	0.012000	0.09680	0.0:0.7829:0.0:0.2171	4.490	0.11220	326	0.86709	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;.;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	0.04762	491.14	35	chr19	42868780	.	C	T	491.14	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.482e+00;DP=2491;ExcessHet=0.1072;FS=2.717;InbreedingCoeff=-0.0513;MLEAC=2;MLEAF=0.048;MQ=51.06;MQRankSum=-1.102e+01;QD=0.61;ReadPosRankSum=-2.533e+00;SOR=1.053	GT:AD:DP:GQ:PL	0/1:346,45:391:99:157,0,9869	19	0	2	0
chr19	43071754	43071754	G	C	exonic	PSG2	.	nonsynonymous SNV	PSG2:NM_031246:exon4:c.C910G:p.R304G,	.	.	10	1508	4	0	0	4	0.0013245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.942	P	0.715	P	.	.	1.000	N	2.135	M	2.61	T	-1.053	T	0.051	T	0.262	0.651	7.492	0.146	0.659	0.124	3.058	0.026	0.000753579947189	.	0.000998403	0.0015	0.0003	0.0008	0.0002	0	0.0015	0.0033	0.0041	0.0012807	198	154602	rs143041939	0.0016	0.0016	0.0015	0.0016	0.0034	0.0015	0.0015	0.0031	0.0030	0.0003	0.0012	0.0018	0.0002	0.0002	0.0005	0.0016	0.0015	0.0034	0.0013	0.0013	0.0013	0.0013	0.0035	0.0012	0.0011	0.0023	0.0018	0.0004	0	0.0012	0.0014	0.0002	0	0	0.0021	0.0009	0.0035	0.105	0.29823	T	0.13	0.34716	T	0.942	0.52977	P	0.715	0.54683	P	.	.	.	.	1	0.08975	N	1.96	0.53105	M	2.61	0.13095	T	-2.52	0.54702	D	0.222	0.24883	-1.0529	0.13601	T	0.051	0.21533	T	9	0.020207375	0.00462	T	7.54E-4	0.00529	T	0.026	0.05648	.	.	0.271763555656	0.26798	0.1005504750690156	0.09986	0.0207818090016	0.02049	0.222210258245	0.01441	T	0.018751	0.15062	T	-0.584043	0.00182	T	-0.613503	0.11703	T	0.038150171744756	0.03359	T	0.829517	0.49484	T	0.12704152	0.29739	0.11887486	0.28695	0.12704152	0.29739	0.11887486	0.28694	-7.761	0.59430	D	.	.	0.216	0.44566	B	.	.	1.681062	0.21424	15.19	0.95561819963271788	0.27241	0.01229	0.04349	N	AEFDI	0.047252	0.07937	N	-0.449872193651092	0.23744	1.277243	-0.740167009202191	0.15964	0.8422206	1.65125136356796E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.26	0.146	0.14129	0.187000	0.16806	.	.	0.347000	0.19874	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.328:0.0:0.672:0.0	3.058	0.05818	726	0.54788	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	7815.98	34	chr19	43071754	.	G	C	7815.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=1243;ExcessHet=0.0000;FS=3.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.99;ReadPosRankSum=1.59;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,205:460:99:0|1:43071753_C_T:7830,0,9948:43071753	20	0	1	0
chr19	43176069	43176069	T	G	exonic	PSG5	.	nonsynonymous SNV	PSG5:NM_001130014:exon3:c.A510C:p.E170D	.	.	11	1445	66	0	0	66	0.0223275	.	.	2340841	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.948	P	0.911	D	.	.	1.000	N	1.405	L	2.67	T	-1.031	T	0.038	T	0.182	0.369	6.004	0.1	0.527	-1.036	2.779	0.066	0.000670184073519	.	.	2.475e-05	9.716e-05	0	0	0	3.001e-05	0	0	3.84e-05	1	26028	rs200537553	2.743e-06	0.0003	1.365e-06	4.136e-06	9.005e-07	6.4e-07	4.3e-07	.	.	0	0	0	0	5.652e-05	0	9.005e-07	0	0	2.651e-05	0.0007	3.885e-05	1.358e-05	6.632e-05	8.2e-06	5.18e-06	4.91e-06	1.84e-06	0	0	6.632e-05	0	0	0	0	2.958e-05	0.0005	0	0.826	0.02913	T	0.283	0.21612	T	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.71	0.44315	L	2.67	0.12473	T	-0.85	0.23156	N	0.162	0.25377	-1.0311	0.20099	T	0.038	0.16548	T	9	0.05737266	0.06580	T	6.7E-4	0.00383	T	0.066	0.19193	0.698	0.83499	0.16115917748	0.15686	0.10525158950099638	0.10455	0.0238137571014	0.02414	.	.	.	0.002523	0.01914	T	-0.313722	0.07424	T	-0.688417	0.06481	T	0.120045120196503	0.14434	T	0.564843	0.19943	T	0.06523243	0.13921	0.056585502	0.10137	0.06523243	0.13920	0.056585502	0.10137	-5.305	0.39993	T	.	.	0.203	0.44682	B	.;.;.;.;.	.;.;.;.;.	0.243443	0.06232	2.687	0.96375077285061395	0.29597	0.00284	0.01530	N	AEFI	0.034589	0.04311	N	-0.999019992406806	0.08625	0.4051179	-1.174052176649	0.06346	0.3051872	1.09731146299496E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.23	0.1	0.13817	-0.869000	0.04340	.	.	0.476000	0.22017	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.3406:0.0:0.6594	2.779	0.05026	798	0.45050	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2897.11	56	chr19	43176069	.	T	G	2897.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.991e+00;DP=3442;ExcessHet=0.1072;FS=0.793;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=52.47;MQRankSum=-1.000e+01;QD=2.76;ReadPosRankSum=4.81;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:458,68:526:99:0|1:43176063_C_T:1436,0,18641:43176063	19	0	2	0
chr19	43176083	43176083	C	G	exonic	PSG5	.	nonsynonymous SNV	PSG5:NM_001130014:exon3:c.G496C:p.A166P	.	.	12	1476	34	0	0	34	0.0113865	.	.	2330906	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.664	P	0.71	P	.	.	1.000	N	2.47	M	2.66	T	-1.058	T	0.073	T	0.491	1.192	9.844	0.652	0.630	-1.921	.	0.125	0.00113651897482	.	.	1.649e-05	0	8.642e-05	0	0	1.5e-05	0	0	3.84e-05	1	26028	rs142461950	1.783e-05	0.0002	1.91e-05	1.654e-05	8.955e-05	1.24e-05	1.054e-05	2.987e-05	1.806e-05	0	8.955e-05	0	0	3.762e-05	0	1.621e-05	1.661e-05	1.161e-05	5.961e-05	0.0003	7.765e-05	4.07e-05	0.0002	3.1e-05	2.226e-05	2.288e-05	9.17e-06	4.887e-05	0	0.0001	0	0	0	0	4.433e-05	0.0005	0.0002	0.116	0.28395	T	0.182	0.29740	T	0.152	0.28062	B	0.303	0.41149	B	.	.	.	.	1	0.08975	N	2.47	0.71715	M	2.66	0.12575	T	-2.32	0.51478	N	0.245	0.35301	-1.0577	0.12337	T	0.073	0.29451	T	8	0.12919632	0.24581	T	0.001137	0.01410	T	0.125	0.34456	.	.	0.101711395817	0.09552	0.3601559712871728	0.35929	0.0801815698632	0.09021	.	.	.	0.010933	0.09820	T	-0.35202	0.04601	T	-0.546457	0.17668	T	0.234928263496648	0.22185	T	0.787421	0.42665	T	0.6860694	0.77298	0.6370779	0.78808	0.6860694	0.77299	0.6370779	0.78809	-8.509	0.64488	D	.	.	0.227	0.47535	B	.;.;.;.;.	.;.;.;.;.	-0.007313	0.04232	1.041	0.98644097184687929	0.44096	0.00577	0.02607	N	AEFI	0.057581	0.10738	N	-0.726610116541622	0.15276	0.7684609	-0.977350988520557	0.10295	0.5175824	1.48299913005432E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.652	0.652	0.16995	-1.711000	0.01987	.	.	-1.404000	0.01138	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	798	0.45050	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1652.11	56	chr19	43176083	.	C	G	1652.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.196e+00;DP=3377;ExcessHet=0.1072;FS=0.777;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=54.11;MQRankSum=-1.170e+01;QD=1.72;ReadPosRankSum=0.211;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:417,64:481:99:.:.:242,0,12619	19	0	2	0
chr19	43475466	43475466	T	C	exonic	PHLDB3	.	nonsynonymous SNV	PHLDB3:NM_198850:exon16:c.A1867G:p.M623V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.002	B	0.011	B	0.000	N	1.000	D	2.38	M	-0.94	T	-0.509	T	0.337	T	0.49	2.948	15.83	3.33	1.009	5.655	8.458	0.452	0.0386895780091	.	.	1.668e-05	0.0001	0	0	0	0	0	6.066e-05	1.29e-05	2	154602	rs775325878	2.739e-06	2.736e-06	1.363e-06	4.13e-06	3.479e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	2.99e-05	0	0	0	0	0	0	0	3.479e-05	1.316e-05	1.314e-05	0	2.693e-05	4.828e-05	2.19e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.046	0.49120	D	0.002	0.09854	B	0.011	0.15521	B	0.000013	0.62929	N	0.062558	0.999993	0.58761	D	2.645	0.77386	M	-0.94	0.75325	T	-3.49	0.68056	D	0.325	0.36569	-0.5089	0.68327	T	0.337	0.70363	T	10	0.32264537	0.49612	T	0.03869	0.58371	D	0.452	0.75211	0.752	0.88237	0.604058420995	0.60089	0.6027615936755477	0.60207	0.117044079981	0.13196	0.547243475914	0.45468	T	0.542099	0.84340	D	-0.108921	0.34946	T	-0.157565	0.58571	T	0.415118098258972	0.29509	T	0.908009	0.67517	D	0.26284975	0.49348	0.34393567	0.60097	0.26284975	0.49348	0.34393567	0.60097	-13.103	0.89782	D	.	.	0.266	0.50063	B	.	.	3.671188	0.52203	23.2	0.97575857875612837	0.34708	0.84642	0.43727	D	ALL	0.628352	0.61047	D	-0.0464530302733078	0.39761	2.350029	0.0427592085181693	0.41723	2.511452	1.0	0.98316	0.789315	0.99827	0	0.768056	0.99558	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	4.35	3.33	0.37245	5.060000	0.64142	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0943:0.0:0.9057	8.458	0.32074	884	0.28482	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|PHLDB1/2/3, PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1653.98	45	chr19	43475466	.	T	C	1653.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.700;DP=917;ExcessHet=0.0000;FS=3.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.47;ReadPosRankSum=1.22;SOR=1.027	GT:AD:DP:GQ:PL	0/1:86,72:158:99:1668,0,2053	20	0	1	0
chr19	44157362	44157362	C	T	exonic	ZNF234	.	nonsynonymous SNV	ZNF234:NM_001144824:exon6:c.C1346T:p.A449V	.	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.103	B	0.047	B	.	.	1.000	N	0.44	N	3.45	T	-0.929	T	0.011	T	0.029	-0.142	3.304	0.606	0.413	-0.677	4.926	0.028	0.00217007983397	.	0.00119808	0.0007	0	8.654e-05	0	0	0	0	0.0048	0.0005757	89	154602	rs200416333	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0040	0.0039	0	0	0	0	0	0.0003	8.994e-07	0.0003	0.0044	0.0002	0.0002	3.857e-05	0.0003	0.0050	0.0001	9.7e-05	0.0034	0.0029	2.407e-05	0	0	0	0	0	0	0	0	0.0050	1.0	0.00964	T	0.346	0.17696	T	0.103	0.25884	B	0.047	0.24832	B	.	.	.	.	1	0.08975	N	-0.915	0.01320	N	3.45	0.05311	T	1.56	0.00685	N	0.047	0.01911	-0.9288	0.44313	T	0.011	0.03949	T	9	0.0058014393	0.00129	T	0.00217	0.04071	T	0.028	0.06331	.	.	0.285316908763	0.28143	0.018705925976338113	0.01824	0.430749926923	0.43306	0.26630923152	0.05666	T	0.001439	0.00900	T	-0.747373	0.00018	T	-0.845785	0.01015	T	0.0518936223871702	0.05829	T	0.851815	0.53646	D	0.016544238	0.00205	0.09570097	0.22708	0.016544238	0.00205	0.09570097	0.22708	-0.672	0.00700	T	.	.	0.202	0.42635	B	.;.	.;.	0.515701	0.08847	5.624	0.88922531383391779	0.18364	0.04653	0.10326	N	AEFBI	0.031485	0.03379	N	-0.864144567652344	0.11704	0.5662627	-0.858409223411678	0.13085	0.6768871	0.0018049377738828	0.08901	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.04	0.606	0.16736	-0.489000	0.06570	.	.	0.531000	0.24825	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.0:0.5969:0.1817:0.2214	4.926	0.13244	851	0.35303	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	0	0	0	0	0	0	0	1	0	0	0	0.04762	3147.11	44	chr19	44157362	.	C	T	3147.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.31;DP=980;ExcessHet=0.1072;FS=0.973;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.189;SOR=0.789	GT:AD:DP:GQ:PL	0/1:61,65:126:99:1721,0,1606	19	0	2	0
chr19	44916256	44916257	AC	-	exonic	APOC1	.	frameshift deletion	APOC1:NM_001321065:exon3:c.125_126del:p.L44Gfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.124e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs756665290	2.394e-05	2.394e-05	6.806e-06	4.125e-05	0.0004	1.738e-05	1.539e-05	0.0003	0.0002	0	0	0	0	0	0	0	6.623e-05	0.0004	6.579e-06	6.568e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3238.94	37	chr19	44916255	.	AAC	A	3238.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=961;ExcessHet=0.0000;FS=5.327;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.30;ReadPosRankSum=-4.900e-01;SOR=0.910	GT:AD:DP:GQ:PL	0/1:90,87:177:99:3253,0,3366	20	0	1	0
chr19	45067377	45067377	C	G	exonic	CLASRP	.	nonsynonymous SNV	CLASRP:NM_001278439:exon13:c.C1264G:p.R422G	.	.	408	1108	6	0	0	6	0.00270027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.699	P	0.115	B	0.011	U	0.997	D	0.55	N	1.4	T	-1.034	T	0.070	T	0.515	2.247	13.47	4.26	2.200	0.424	12.031	0.087	.	.	.	0.0012	0	0.025	0	.	0	0	0.0014	0.0001035	16	154602	rs750603149	0.0001	0.0001	5.441e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	0	0	0.0017	5.58e-06	0.0002	0.0018	5.912e-05	5.906e-05	3.857e-05	8.06e-05	0.0017	3.076e-05	2.209e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0.0005	0.0017	0.0	0.91255	D	0.024	0.67890	D	0.535	0.37805	P	0.065	0.27321	B	0.010615	0.29855	U	0.000000	0.993879	0.43273	D	.	.	.	1.34	0.51474	T	-0.69	0.20358	N	0.501	0.54845	-1.0336	0.19300	T	0.070	0.28577	T	10	0.005859554	0.00131	T	.	.	.	0.087	0.25287	0.39	0.41279	0.0934897674506	0.08844	0.39008001604490766	0.38923	0.936903531846	0.72053	0.686215758324	0.65160	T	0.007529	0.06930	T	-0.353803	0.04493	T	-0.29422	0.45332	T	0.169071553520808	0.18517	T	0.808619	0.45852	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.24733	B	.;.;.	.;.;.	4.140320	0.62030	24.4	0.98252199007354524	0.39585	0.58685	0.30708	D	AEFDBCI	0.251558	0.37140	N	-0.102027689505958	0.37304	2.168422	0.0180791251639932	0.40554	2.422148	0.573323092548285	0.21510	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	4.26	4.26	0.49832	1.213000	0.32011	3.992000	0.40997	0.596000	0.33519	0.963000	0.33788	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	12.031	0.52691	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	278.98	20	chr19	45067377	.	C	G	278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.116e+00;DP=433;ExcessHet=0.0000;FS=1.906;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=1.61;SOR=1.473	GT:AD:DP:GQ:PL	0/1:13,12:25:99:293,0,354	20	0	1	0
chr19	45396182	45396182	C	G	exonic	PPP1R13L	.	nonsynonymous SNV	PPP1R13L:NM_001142502:exon6:c.G889C:p.G297R	.	.	414	1099	9	0	0	9	0.00407793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	1.0	D	0.999	D	0.094	N	0.869	N	0.205	N	0.42	T	-0.931	T	0.170	T	0.618	2.631	14.76	4.92	2.276	2.216	13.588	0.242	0.127887727024	.	0.000199681	0.0006	0	0.0006	0	0	7.085e-05	0.0018	0.0029	0.0003105	48	154602	rs529746041	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	5.987e-05	0	0	0	0	0.0003	4.591e-05	0.0002	0.0031	7.88e-05	7.873e-05	5.14e-05	0.0001	0.0019	4.494e-05	3.51e-05	0.0010	0.0007	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0019	0.033	0.44358	D	0.546	0.09555	T	1.0	0.90584	D	0.998	0.88582	D	0.094048	0.20192	N	0.505078	0.869327	0.28232	N	1.01	0.25309	L	0.42	0.56937	T	-0.9	0.24244	N	0.472	0.50868	-0.9308	0.44021	T	0.170	0.51117	T	10	0.02683872	0.00841	T	0.127888	0.80975	D	0.242	0.54781	0.267	0.21418	0.758340695981	0.75614	0.2775715320548507	0.27670	0.628732072962	0.56933	0.873609244823	0.93081	D	0.099645	0.40465	T	-0.326427	0.06385	T	-0.24597	0.50214	T	0.113460265917684	0.13779	T	0.659534	0.26859	T	0.22299524	0.44910	0.1473918	0.34882	0.22299524	0.44910	0.1473918	0.34881	-4.937	0.36148	T	.	.	0.495	0.64339	A	.;.	.;.	2.642721	0.34393	19.61	0.99552035792337346	0.71211	0.88427	0.48350	D	AEFDBI	0.368405	0.45552	N	0.218877275095976	0.52114	3.387724	0.252231669834242	0.52776	3.450251	0.999992360278357	0.74766	0.72623	0.87236	0	0.694456	0.67091	0	0.594344	0.31042	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	0.956000	0.28799	5.610000	0.49052	0.443000	0.21123	0.154000	0.23713	1.000000	0.68203	0.164000	0.20782	0.0:1.0:0.0:0.0	13.588	0.61407	836	0.38045	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	858.98	33	chr19	45396182	.	C	G	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.540e-01;DP=777;ExcessHet=0.0000;FS=3.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.724;SOR=1.292	GT:AD:DP:GQ:PL	0/1:35,34:69:99:873,0,971	20	0	1	0
chr19	45765743	45765743	C	T	exonic	SIX5	.	nonsynonymous SNV	SIX5:NM_175875:exon3:c.G1978A:p.A660T,	Branchiootorenal syndrome 2	.	0	1520	2	0	0	2	0.000657462	.	.	1254753	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.279	B	0.034	B	0.350	N	1.000	N	0	N	-2.84	D	-0.488	T	0.422	T	0.183	2.504	14.33	0.515	0.398	0.893	2.671	0.204	0.13006633139	.	0.00159744	0.0008	0	0	0	0	4.673e-05	0	0.0055	0.0006856	106	154602	rs549777158	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0047	0.0001	0	0	5.038e-05	0	0.0005	8.094e-06	0.0005	0.0052	0.0002	0.0002	0.0001	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0060	0.353	0.12187	T	0.449	0.27679	T	0.279	0.32056	B	0.034	0.22546	B	0.349550	0.04237	N	1.396620	1	0.08975	N	0	0.06538	N	-2.84	0.91305	D	-0.31	0.12099	N	0.193	0.21188	-0.4882	0.69072	T	0.422	0.76690	T	10	0.0054204166	0.00119	T	0.130066	0.81218	D	0.204	0.49076	0.166	0.07071	0.853836839074	0.85242	0.17199938041361743	0.17119	0.0855303882618	0.09661	0.646423339844	0.59477	T	0.103917	0.41301	T	-0.357427	0.04278	T	-0.285518	0.46237	T	0.00944237649314539	0.00121	T	0.781022	0.41604	T	0.031028708	0.02870	0.02948552	0.01292	0.034057472	0.03749	0.033114202	0.02154	-4.392	0.29448	T	.	.	0.094	0.28721	B	.;.;.	.;.;.	1.229050	0.16235	12.41	0.99682846346504583	0.79373	0.07527	0.13541	N	AEFDBCIJ	0.057635	0.10753	N	-0.860023842335185	0.11804	0.5716886	-0.884489780978249	0.12461	0.6411017	0.999942194116028	0.47345	0.741868	0.97996	0	0.694456	0.67091	0	0.774882	0.98623	0	0.683762	0.67416	0	.	.	4.19	0.515	0.16211	1.484000	0.35116	1.984000	0.30047	0.599000	0.40250	0.069000	0.22043	0.961000	0.29326	0.260000	0.23518	0.1876:0.5226:0.1826:0.1072	2.671	0.04752	799	0.44747	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1954.98	33	chr19	45765743	.	C	T	1954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.392;DP=1262;ExcessHet=0.0000;FS=0.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=1.36;SOR=0.810	GT:AD:DP:GQ:PL	0/1:62,79:141:99:1969,0,1444	20	0	1	0
chr19	46755970	46755970	A	T	exonic	FKRP	.	nonsynonymous SNV	FKRP:NM_001039885:exon4:c.A520T:p.S174C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	102004	Cardiovascular_phenotype|Walker-Warburg_congenital_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1|Muscular_dystrophy-dystroglycanopathy_type_B5|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5	MedGen:CN230736|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orphanet:34515|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612,Orphanet:52428|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,Orphanet:588,Orphanet:899	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	0.000	D	0.902	D	0.345	N	-6.08	D	0.786	D	0.895	D	0.701	2.034	12.76	3.52	0.745	3.374	8.011	0.614	.	0.0006	0.00579073	0.0118	0.0027	0	0	0	0.0058	0	0.0161	0.002044	316	154602	rs200990647	0.0023	0.0023	0.0020	0.0027	0.0144	0.0022	0.0022	0.0138	0.0135	0.0002	0.0006	0.0010	0.0011	0.0002	0.0007	0.0017	0.0026	0.0144	0.0015	0.0015	0.0013	0.0017	0.0190	0.0014	0.0013	0.0159	0.0147	0.0004	0	0.0008	0.0012	0.0021	0.0002	0	0.0014	0	0.0190	0.02	0.49613	D	0.005	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.000094	0.51296	D	0.170964	0.902163	0.36198	D	0.345	0.11182	N	-6.08	0.99517	D	-2.6	0.55983	D	0.491	0.74280	0.786	0.94236	D	0.895	0.96512	D	10	0.009832382	0.00221	T	.	.	.	0.614	0.84932	.	.	0.839388427273	0.83785	0.7137535700374018	0.71318	1.29733811053	0.82933	0.929733991623	0.98973	D	0.527196	0.83572	D	-0.0854319	0.38827	T	0.116183	0.77981	D	0.0284877121389715	0.01759	T	0.807619	0.45757	T	0.49096623	0.66561	0.2004119	0.43971	0.559256	0.70470	0.28949234	0.54969	-6.403	0.49533	T	0.446524041138075	0.53109	0.675	0.72091	P	.;.;.	.;.;.	3.434349	0.47750	22.5	0.98427601384636587	0.41354	0.88752	0.48831	D	AEFDBI	0.400106	0.47512	N	-0.434184271767077	0.24279	1.309852	-0.308591873975597	0.27819	1.54648	0.998100821236895	0.36433	0.700653	0.57754	0	0.694456	0.67091	0	0.717052	0.78885	0	0.669	0.65921	0	.	.	4.55	3.52	0.39415	1.737000	0.37821	8.870000	0.78330	0.658000	0.54486	0.962000	0.33725	1.000000	0.68203	0.617000	0.31819	0.6732:0.0:0.0:0.3268	8.011	0.29516	934	0.15400	.;.;.	.	.	.	.	.	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	0.04762	3075.11	33	chr19	46755970	.	A	T	3075.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.372;DP=1067;ExcessHet=0.1072;FS=1.917;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=1.26;SOR=0.829	GT:AD:DP:GQ:PL	0/1:81,53:134:99:1209,0,2020	19	0	2	0
chr19	47680071	47680071	C	T	exonic	BICRA	.	nonsynonymous SNV	BICRA:NM_015711:exon6:c.C901T:p.L301F,	.	.	.	.	.	.	.	.	.	.	.	2818486	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	0.976	D	0.853	P	.	.	0.992	D	1.59	L	0.89	T	-0.861	T	0.165	T	0.463	1.316	10.31	3.17	2.186	2.698	11.538	0.109	0.116390165964	.	.	0.0009	0	0.0021	0	0	0	0	0.0026	0.0001682	26	154602	rs748949915	0.0001	0.0001	5.063e-05	0.0002	0.0018	9.435e-05	8.949e-05	0.0016	0.0015	0	0	0	0	0	0.0002	0	0.0001	0.0018	6.566e-05	6.562e-05	3.855e-05	9.4e-05	0.0021	3.514e-05	2.614e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.073	0.34800	T	0.052	0.47581	T	0.976	0.58310	D	0.853	0.60815	P	.	.	.	.	0.991557	0.41416	D	.	.	.	0.89	0.45636	T	-2.0	0.46146	N	0.417	0.45709	-0.8607	0.51213	T	0.165	0.50225	T	9	0.023692131	0.00628	T	0.11639	0.79586	D	0.109	0.30843	0.237	0.16760	0.161926535498	0.15789	0.5791745933888623	0.57846	1.25605872944	0.81899	0.897307217121	0.96136	D	0.095121	0.39557	T	-0.399465	0.02334	T	-0.376659	0.36114	T	0.160743685876379	0.17926	T	0.769823	0.39947	T	0.09856365	0.23249	0.13388865	0.32095	0.09856365	0.23248	0.13388865	0.32094	-5.414	0.41054	T	.	.	0.293	0.55348	B	.;.	.;.	3.161126	0.42834	21.6	0.97184619808767503	0.32736	0.40348	0.26417	N	AEFDBI	0.089358	0.18113	N	0.408941531086339	0.61914	4.399035	0.368455953356687	0.59625	4.142172	0.408726502297523	0.20193	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.25	3.17	0.35510	1.925000	0.39705	3.883000	0.40251	0.547000	0.25779	0.731000	0.28933	0.999000	0.35428	0.853000	0.40368	0.0:0.9066:0.0:0.0934	11.538	0.49901	686	0.59327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1297.98	37	chr19	47680071	.	C	T	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.610e-01;DP=1062;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=-4.290e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1312,0,1429	20	0	1	0
chr19	48970958	48970958	C	T	exonic	GYS1	.	nonsynonymous SNV	GYS1:NM_001161587:exon12:c.G1423A:p.E475K	Glycogen storage disease 0, muscle, Autosomal recessive	YES	0	1505	17	0	0	17	0.00561612	.	.	334021	Neuroferritinopathy|Hereditary_hyperferritinemia_with_congenital_cataracts|Glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency|not_provided|GYS1-related_disorder	MONDO:MONDO:0011638,MedGen:C1853578,OMIM:606159,Orphanet:157846|MONDO:MONDO:0010952,MedGen:C1833213,OMIM:600886,Orphanet:163|MONDO:MONDO:0012693,MedGen:C1969054,OMIM:611556,Orphanet:137625|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.788	P	0.542	P	0.000	D	1.000	D	1.335	L	-0.19	T	-0.704	T	0.250	T	0.913	5.087	31	5.34	2.676	2.871	16.920	0.384	0.0243825774406	.	0.000399361	0.0010	0	0.0009	0	0	0.0001	0.0055	0.0059	0.0008021	124	154602	rs561646250	0.0005	0.0005	0.0003	0.0007	0.0064	0.0004	0.0004	0.0059	0.0058	0.0001	0.0002	0	0	0	0.0021	6.566e-05	0.0005	0.0064	0.0003	0.0003	0.0002	0.0004	0.0048	0.0002	0.0002	0.0033	0.0028	0	0	0.0003	0	0	0	0	0.0002	0.0005	0.0048	0.06	0.59928	T	0.315	0.19421	T	0.788	0.44546	P	0.472	0.46817	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.125	0.59049	M	-0.19	0.65931	T	-1.55	0.40850	N	0.639	0.65159	-0.7035	0.60270	T	0.250	0.61993	T	10	0.0136882365	0.00290	T	0.024383	0.47367	T	0.384	0.70112	0.635	0.77142	0.70587948629	0.70331	0.8152619720347196	0.81482	1.46970682267	0.86517	0.840509355068	0.88171	D	0.42792	0.77723	T	-0.0279745	0.47710	T	0.189652	0.82549	D	0.0642511732591454	0.07820	T	0.965203	0.87125	D	0.37449655	0.58914	0.32205808	0.58149	0.4041045	0.61016	0.3100395	0.57015	-8.129	0.61946	D	0.1734996223189777	0.21984	0.399	0.60783	A	.;.	.;.	5.222600	0.87654	29.3	0.99886871607356864	0.96204	0.82114	0.41392	D	AEFDGBHCI	0.694402	0.65342	D	0.318329892580858	0.57088	3.875081	0.403424435936439	0.61777	4.382758	1.0	0.98316	0.675202	0.55065	0	0.67197	0.64623	0	0.779548	0.98927	0	0.636	0.56748	0	.	.	5.34	5.34	0.75982	2.684000	0.46618	3.885000	0.40262	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.920	0.86029	704	0.57414	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	943.98	34	chr19	48970958	.	C	T	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.950e-01;DP=760;ExcessHet=0.0000;FS=2.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=0.079;SOR=0.416	GT:AD:DP:GQ:PL	0/1:30,39:69:99:958,0,725	20	0	1	0
chr19	49539123	49539123	C	A	exonic	RCN3	.	nonsynonymous SNV	RCN3:NM_020650:exon5:c.C623A:p.T208N,	.	.	420	1098	2	0	2	4	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	1.000	D	3.805	H	0.51	T	0.210	D	0.496	T	0.485	5.081	31	5.62	2.642	7.273	18.440	0.429	0.0632501554934	.	0.00139776	0.0008	0	0	0	0	1.528e-05	0.0023	0.0062	0.0006404	99	154602	rs146820947	0.0004	0.0004	0.0002	0.0006	0.0063	0.0004	0.0004	0.0059	0.0057	3.036e-05	0	0	0	0	0.0005	1.354e-05	0.0003	0.0063	0.0003	0.0003	0.0001	0.0005	0.0093	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0	0	0	0	0	0.0093	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.735	0.94896	H	0.51	0.55439	T	-4.79	0.80595	D	0.638	0.65074	0.210	0.86076	D	0.496	0.80898	T	10	0.016086698	0.00338	T	0.06325	0.68910	D	0.429	0.73590	0.509	0.60540	0.828220907165	0.82659	0.8560512115026256	0.85568	0.143643508487	0.16218	0.710219860077	0.68626	T	0.04416	0.26730	T	-0.297343	0.08912	T	-0.198936	0.54747	T	0.282199269112914	0.24264	T	0.975769	0.91515	D	0.8890181	0.90423	0.80407566	0.88526	0.8890181	0.90424	0.80407566	0.88527	-13.102	0.89778	D	.	.	0.902	0.82891	P	.	.	4.585776	0.72484	25.8	0.9943878319814371	0.64670	0.99612	0.97981	D	AEFBI	0.878990	0.80461	D	1.01679493174289	0.96238	14.45877	0.938472833945389	0.97041	15.50372	0.999999999999984	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	2.970000	0.48932	7.118000	0.57587	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.899000	0.43558	0.0:1.0:0.0:0.0	18.440	0.90611	846	0.36215	EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	703.98	34	chr19	49539123	.	C	A	703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.519;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,28:57:99:1|0:49539114_T_C:718,0,1113:49539114	20	0	1	0
chr19	52016813	52016813	T	C	exonic	ZNF614	.	nonsynonymous SNV	ZNF614:NM_025040:exon5:c.A785G:p.N262S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.001	B	.	.	1.000	N	-0.055	N	1.67	T	-1.029	T	0.025	T	0.003	-2.169	0.005	-7.53	-3.381	-7.165	7.578	0.030	0.00109771484624	7.7e-05	.	5.783e-05	0	0	0	0	6.012e-05	0	0.0002	5.17e-05	8	154602	rs374687937	4.173e-05	4.173e-05	3.539e-05	4.813e-05	0.0002	3.311e-05	3.001e-05	5.396e-05	4.042e-05	0	0	0	2.52e-05	0	0.0002	3.867e-05	0.0001	0.0001	1.315e-05	1.315e-05	1.286e-05	1.346e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	0.865	0.03361	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.775	0.01662	N	1.67	0.27331	T	-0.26	0.11185	N	0.031	0.00770	-1.0293	0.20681	T	0.025	0.10509	T	9	0.03149745	0.01285	T	0.001098	0.01312	T	0.030	0.07022	.	.	0.223146558224	0.21909	0.008372651243346766	0.00801	0.0967634086437	0.10922	0.212112039328	0.00904	T	9.02E-4	0.00463	T	-0.635149	0.00089	T	-0.890445	0.00572	T	0.0133221228782114	0.00239	T	0.0149985	0.00083	T	0.017791152	0.00303	0.027464708	0.00901	0.017791152	0.00303	0.027464708	0.00901	-3.837	0.21358	T	.	.	0.06	0.00934	B	.	.	-1.717567	0.00187	0.003	0.13268510744211651	0.00256	0.00548	0.02514	N	AEFBCI	0.018929	0.00614	N	-2.41604406422306	0.00025	0.001076475	-2.4921474431776	0.00024	0.001064354	0.999250501740003	0.38906	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.76	-7.53	0.01194	-4.575000	0.00246	.	.	-2.480000	0.00270	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1808:0.2095:0.0:0.6097	7.578	0.27115	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2313.98	34	chr19	52016813	.	T	C	2313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=1568;ExcessHet=0.0000;FS=1.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-1.822e+00;SOR=0.556	GT:AD:DP:GQ:PL	0/1:124,91:215:99:2328,0,3200	20	0	1	0
chr19	52366275	52366275	G	T	exonic	ZNF610	.	nonsynonymous SNV	ZNF610:NM_001161427:exon5:c.G768T:p.E256D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.004	B	0.009	B	.	.	1.000	N	-0.165	N	3.19	T	-0.940	T	0.010	T	0.158	0.903	8.671	-1.73	-0.626	-2.819	3.686	0.012	0.000839819610407	.	.	3.298e-05	0	0	0	0	1.5e-05	0	0.0002	2.59e-05	4	154602	rs764199008	6.16e-06	6.158e-06	4.086e-06	8.256e-06	0.0001	2.9e-06	2.1e-06	5.4e-05	4.045e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.13699	T	0.314	0.23501	T	0.004	0.12183	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	-0.395	0.03011	N	3.19	0.07353	T	-1.43	0.35194	N	0.078	0.09207	-0.9397	0.42664	T	0.010	0.03492	T	9	0.04455164	0.03424	T	8.4E-4	0.00713	T	0.012	0.01476	0.413	0.45052	0.152612264143	0.14878	0.03872964355357358	0.03818	0.153038685903	0.17271	0.314237058163	0.12548	T	0.018505	0.14904	T	-0.519721	0.00442	T	-0.72464	0.04574	T	0.0323744715172096	0.02367	T	0.0330967	0.00215	T	0.06533104	0.13951	0.05812045	0.10685	0.06533104	0.13951	0.05812045	0.10684	-5.155	0.40318	T	.	.	0.52	0.66155	A	.;.;.;.;.;.	.;.;.;.;.;.	0.098886	0.05008	1.563	0.98218028497201193	0.39272	0.04584	0.10234	N	AEFBHCI	0.040683	0.06085	N	-1.40194746959504	0.02622	0.1160284	-1.47975363708956	0.02510	0.1155865	8.00979823044355E-4	0.07826	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	1.41	-1.73	0.07646	-2.917000	0.00762	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2725:0.2102:0.5173:0.0	3.686	0.07863	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1604.98	56	chr19	52366275	.	G	T	1604.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.970e-01;DP=1441;ExcessHet=0.0000;FS=0.724;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=0.312;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,57:116:99:0|1:52366275_G_T:1619,0,1616:52366275	20	0	1	0
chr19	52706548	52706548	T	C	exonic	ZNF611	.	nonsynonymous SNV	ZNF611:NM_001161500:exon5:c.A507G:p.I169M	.	.	424	1075	22	1	0	24	0.0110396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.382	B	0.091	B	.	.	1.000	N	0.57	N	3.13	T	-0.975	T	0.012	T	0.085	0.946	8.859	-2.67	-0.514	-4.246	0.085	0.100	.	0.0002	0.00359425	0.0026	9.634e-05	0.0002	0	0	0.0003	0.0044	0.0173	0.0022186	343	154602	rs144112352	0.0013	0.0013	0.0008	0.0019	0.0182	0.0013	0.0012	0.0175	0.0172	0	6.708e-05	0.0004	0	0	0.0040	0.0002	0.0011	0.0182	0.0007	0.0007	0.0004	0.0010	0.0182	0.0006	0.0006	0.0152	0.0140	7.218e-05	0	0	0.0003	0	0	0	0.0002	0.0009	0.0182	0.163	0.23450	T	0.167	0.30729	T	0.382	0.34403	B	0.091	0.29943	B	.	.	.	.	1	0.08975	N	0.135	0.08676	N	3.0	0.09167	T	-1.68	0.40082	N	0.099	0.12770	-0.9754	0.36037	T	0.012	0.04747	T	9	0.0049054027	0.00105	T	.	.	.	0.100	0.28662	.	.	0.236890367714	0.23314	0.009135773118130991	0.00876	0.0313130348955	0.03250	0.278263747692	0.07251	T	0.00501	0.04439	T	-0.691886	0.00041	T	-0.752343	0.03395	T	0.0189043657137932	0.00600	T	0.039696	0.00534	T	0.064182214	0.13591	0.07291574	0.15787	0.064182214	0.13590	0.07291574	0.15786	-5.676	0.47679	T	.	.	0.092	0.19720	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.483718	0.08529	5.294	0.96142836402236942	0.28841	0.00196	0.01131	N	AEFBI	0.034691	0.04341	N	-1.25834124146927	0.04191	0.1886737	-1.41213788856454	0.03130	0.1454012	3.01479565530475E-5	0.03498	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	1.99	-2.67	0.05703	0.617000	0.24053	.	.	0.515000	0.23462	0.001000	0.13787	0.000000	0.08366	0.017000	0.10941	0.2482:0.1854:0.251:0.3154	0.085	0.00032	923	0.18507	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4971.98	37	chr19	52706548	.	T	C	4971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=1436;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.75;MQRankSum=-2.558e+00;QD=13.22;ReadPosRankSum=-4.660e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/1:184,192:376:99:4986,0,4756	20	0	1	0
chr19	53068417	53068417	C	T	exonic	ZNF160	.	nonsynonymous SNV	ZNF160:NM_001322136:exon5:c.G2117A:p.R706Q	.	.	389	1124	8	1	0	10	0.0044287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.92	P	0.24	B	.	.	1.000	N	0.015	N	2.34	T	-1.013	T	0.016	T	0.081	1.949	12.48	-1.62	-0.708	-2.003	4.335	0.054	0.0035749140982	.	0.00139776	0.0005	0	8.637e-05	0	0	0.0001	0	0.0035	0.0005239	81	154602	rs201073674	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	0.0001	2.259e-05	0.0004	2.527e-05	0	0.0017	6.842e-05	0.0004	0.0040	0.0002	0.0002	0.0002	0.0002	0.0045	0.0001	0.0001	0.0030	0.0025	0	0	0	0.0003	0	0	0	0.0001	0	0.0045	0.055	0.38407	T	0.023	0.57104	D	0.92	0.51019	P	0.24	0.38599	B	.	.	.	.	1	0.08975	N	-0.665	0.02058	N	2.34	0.16351	T	-0.9	0.24244	N	0.053	0.05037	-1.0131	0.25943	T	0.016	0.06569	T	9	0.00477618	0.00101	T	0.003575	0.08154	T	0.054	0.15330	.	.	0.0611884634855	0.05136	0.05949815375872261	0.05889	0.85370292488	0.68666	0.188015937805	0.00192	T	0.011652	0.10368	T	-0.67794	0.00049	T	-0.747747	0.03575	T	0.060510937932735	0.07249	T	0.0288971	0.00180	T	0.043433998	0.06768	0.044326358	0.05718	0.043433998	0.06768	0.044326358	0.05718	-4.391	0.29435	T	.	.	0.104	0.18663	B	.;.;.;.	.;.;.;.	2.465692	0.31770	18.84	0.9651195513354982	0.30083	0.00008	0.00134	N	AEFDBHCI	0.014886	0.00256	N	-1.05160917809189	0.07556	0.3514047	-1.20855477284168	0.05771	0.2759463	3.70278043212291E-4	0.06707	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.47	-1.62	0.07926	-1.186000	0.03179	.	.	-0.314000	0.05961	0.000000	0.06391	0.000000	0.08366	0.950000	0.49671	0.0:0.3236:0.1704:0.5059	4.335	0.10520	994	0.00715	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1917.98	35	chr19	53068417	.	C	T	1917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.796;DP=1060;ExcessHet=0.0000;FS=0.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-1.950e+00;SOR=0.784	GT:AD:DP:GQ:PL	0/1:86,77:163:99:1932,0,2093	20	0	1	0
chr19	54075021	54075021	C	A	exonic	TARM1	.	nonsynonymous SNV	TARM1:NM_001135686:exon3:c.G164T:p.G55V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.912	P	0.703	P	.	.	1.000	N	0.55	N	2.69	T	-1.000	T	0.029	T	0.135	2.063	12.85	-0.246	-0.080	-1.461	6.225	0.082	0.00616360545823	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1421534426	4.288e-06	4.104e-06	4.23e-06	4.346e-06	3.786e-05	1.54e-06	1.01e-06	1.005e-05	4.79e-06	0	2.801e-05	0	0	0	0	0	3.448e-05	3.786e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21801	T	0.078	0.42261	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.69	0.12268	T	-1.99	0.45949	N	0.13	0.12627	-0.9998	0.29973	T	0.029	0.12234	T	9	0.14525536	0.27555	T	0.006164	0.16141	T	0.082	0.23913	0.539	0.65018	0.0482279557977	0.04254	0.30484211880805745	0.30397	.	.	0.212783306837	0.00935	T	.	.	.	-0.360167	0.04120	T	-0.755132	0.03290	T	0.113807623792927	0.13814	T	0.39586	0.09952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.52752	B	.;.	.;.	-0.090159	0.03699	0.754	0.97402476256484505	0.33780	0.01602	0.05196	N	AEFBI	0.038795	0.05544	N	-0.846276691561601	0.12141	0.5900385	-1.02624385806498	0.09210	0.45693	1.66524452167889E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.6	-0.246	0.12380	-1.465000	0.02463	.	.	-1.691000	0.00771	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3844:0.0:0.6156	6.225	0.19913	994	0.00715	Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1091.98	36	chr19	54075021	.	C	A	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.614e+00;DP=894;ExcessHet=0.0000;FS=1.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=-3.120e-01;SOR=0.890	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1106,0,1260	20	0	1	0
chr19	54633108	54633108	T	C	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.T1051C:p.W351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.005	B	0.000	N	1.000	N	0.64	N	4.11	T	-0.937	T	0.006	T	0.074	-0.437	1.968	-4.16	-1.178	-4.299	2.666	0.016	0.000983764574232	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs765206177	1.262e-05	1.321e-05	1.117e-05	1.408e-05	0.0002	7.89e-06	6.51e-06	0.0001	8.812e-05	3.147e-05	0	0	0	0	0	0	3.399e-05	0.0002	2.098e-05	2.088e-05	2.735e-05	1.431e-05	0.0007	5.58e-06	2.55e-06	0.0002	9.61e-05	0	0	0	0	0	0	0	0	0	0.0007	0.426	0.09746	T	0.473	0.12281	T	0.0	0.02946	B	0.002	0.06944	B	0.000057	0.00387	N	14.826600	1	0.08975	N	.	.	.	4.11	0.02916	T	-1.47	0.45042	N	0.058	0.03175	-0.9373	0.43041	T	0.006	0.02168	T	10	0.032902986	0.01452	T	9.84E-4	0.01026	T	0.016	0.02506	0.42	0.46200	0.355658859761	0.35178	0.06504777047916012	0.06443	0.0951957454739	0.10748	0.260372936726	0.04935	T	0.003953	0.03423	T	-0.602758	0.00140	T	-0.799049	0.01926	T	0.0297089204965355	0.01945	T	0.0123321	0.00111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48827	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.464652	0.01982	0.173	0.27383360219759167	0.01357	0.00158	0.00946	N	AEFDBHCI	0.036166	0.04774	N	-2.07763132330582	0.00143	0.006134361	-2.16231796484525	0.00136	0.005972342	0.998419139002024	0.36924	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	-4.16	0.03606	-3.674000	0.00445	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3566:0.2413:0.0:0.4021	2.666	0.04739	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	75915.23	337	chr19	54633108	.	T	G,C	75915.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=1.38;DP=7609;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.07;MQRankSum=-1.416e+01;QD=10.13;ReadPosRankSum=3.92;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:147,0,170:317:99:.:.:3892,4332,8456,0,4124,3617	1	0	19	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T	.	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	2.195	M	7.25	T	-0.797	T	0.003	T	0.159	-2.076	0.006	-0.836	-3.588	-0.374	0.314	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	11817.48	33	chr19	54739533	.	C	A	11817.48	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.378e+00;DP=7438;ExcessHet=20.9642;FS=1.551;InbreedingCoeff=-0.6399;MLEAC=16;MLEAF=0.400;MQ=55.59;MQRankSum=1.01;QD=1.92;ReadPosRankSum=1.26;SOR=0.542	GT:AD:DP:GQ:PL	0/1:404,47:451:99:126,0,11965	4	0	16	1
chr19	54742019	54742019	C	T	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.181	B	0.069	B	.	.	1.000	N	2.52	M	5.76	T	-1.016	T	0.017	T	0.347	0.259	5.400	0.507	0.253	1.801	5.886	0.076	0.00102173653182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.394e-07	7.092e-07	0	1.485e-06	2.396e-05	0	0	.	.	0	2.396e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.181	0.29111	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.56	0.74772	M	3.95	0.03382	T	-6.54	0.91786	D	0.223	0.25006	-1.0164	0.24884	T	0.017	0.06807	T	9	0.12389034	0.23525	T	0.001022	0.01120	T	0.076	0.22200	0.37	0.38013	0.335164054921	0.33125	0.19209035572317168	0.19127	1.791941562	0.91524	.	.	.	0.020233	0.15966	T	-0.175002	0.24481	T	-0.489154	0.23479	T	0.20912588440861	0.20907	T	.	.	.	0.17275815	0.37985	0.1681736	0.38757	0.17275815	0.37985	0.1681736	0.38756	-8.822	0.66544	D	.	.	0.125	0.26514	B	.	.	1.590162	0.20337	14.70	0.57320471306848364	0.05743	0.01560	0.05104	N	AEFI	0.030433	0.03063	N	-1.06537834965913	0.07289	0.338164	-1.21954413589658	0.05596	0.2670848	1.74798417143001E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	0.507	0.16168	1.859000	0.39058	.	.	0.303000	0.18983	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.6648:0.3352:0.0	5.886	0.18127	964	0.07719	Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	38391.65	39	chr19	54742019	.	C	G,T	38391.65	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-4.248e+00;DP=5023;ExcessHet=10.5502;FS=2.011;InbreedingCoeff=-0.4135;MLEAC=15,1;MLEAF=0.357,0.024;MQ=49.81;MQRankSum=0.016;QD=8.38;ReadPosRankSum=0.547;SOR=0.509	GT:AD:DP:GQ:PL	0/1:206,96,0:302:99:1908,0,6524,2527,6811,9337	6	0	14	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D,	.	.	438	644	313	127	0	567	0.30566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.953	D	.	.	1.000	N	1.66	L	7.17	T	-0.907	T	0.003	T	0.251	0.161	4.868	-1.94	-0.713	0.615	4.008	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	21150.31	340	chr19	54752378	.	A	T	21150.31	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-3.320e+00;DP=5262;ExcessHet=5.2939;FS=0.000;InbreedingCoeff=-0.2512;MLEAC=17;MLEAF=0.425;MQ=55.87;MQRankSum=-1.639e+01;QD=5.39;ReadPosRankSum=2.32;SOR=0.699	GT:AD:DP:GQ:PL	0/1:220,61:281:99:914,0,6204	6	2	12	1
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T,	.	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.073	B	.	.	1.000	N	1.885	L	7.21	T	-0.958	T	0.001	T	0.079	-0.731	0.875	-2.12	-2.428	-1.068	4.380	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	28617.15	340	chr19	54752434	.	G	C	28617.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.210e+00;DP=6144;ExcessHet=5.2939;FS=7.479;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.79;MQRankSum=-1.832e+01;QD=6.00;ReadPosRankSum=1.58;SOR=1.014	GT:AD:DP:GQ:PL	0/1:289,57:346:99:1295,0,8294	6	2	12	1
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C,	.	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.006	B	0.003	B	.	.	1.000	N	1.1	L	7.14	T	-0.946	T	0.001	T	0.168	-0.325	2.456	-1.82	-2.219	0.300	4.091	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	33791.15	340	chr19	54752445	.	C	T	33791.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.020e-01;DP=6238;ExcessHet=5.2939;FS=10.711;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.95;MQRankSum=-1.853e+01;QD=6.90;ReadPosRankSum=-2.400e-01;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,55:356:99:0|1:54752445_C_T:1383,0,12332:54752445	6	2	12	1
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T,	.	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.004	B	.	.	1.000	N	0.74	N	7.07	T	-0.942	T	0.001	T	0.034	-1.003	0.256	-0.268	-0.552	-0.743	3.096	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	17127.06	73	chr19	54752485	.	T	C	17127.06	.	AC=15;AF=0.375;AN=40;BaseQRankSum=1.81;DP=4524;ExcessHet=3.6553;FS=28.218;InbreedingCoeff=-0.1733;MLEAC=16;MLEAF=0.400;MQ=57.11;MQRankSum=-1.853e+01;QD=4.19;ReadPosRankSum=-2.676e+00;SOR=2.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:320,29:349:99:0|1:54752482_T_C:255,0,13233:54752482	7	2	11	1
chr19	54760437	54760437	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	404	1115	3	0	0	3	0.00134348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	1.94e-05	3	154602	rs557379946	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	2.387e-05	0.0011	0	0	0.0003	4.427e-05	0.0003	0.0016	8.745e-05	0.0001	5.261e-05	0.0001	0.0019	5.17e-05	4.05e-05	0.0010	0.0007	0	0	0	0.0003	0	0	0	4.512e-05	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2572.98	37	chr19	54760437	.	T	C	2572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=5193;ExcessHet=0.0000;FS=0.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.11;MQRankSum=4.47;QD=5.35;ReadPosRankSum=-4.940e-01;SOR=0.790	GT:AD:DP:GQ:PL	0/1:349,132:481:99:2587,0,8835	20	0	1	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	10320.24	37	chr19	54760643	.	A	G	10320.24	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.066e+00;DP=4116;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4489;MLEAC=13;MLEAF=0.310;MQ=53.53;MQRankSum=-6.940e+00;QD=3.09;ReadPosRankSum=-1.857e+00;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:370,29:399:99:0|1:54760643_A_G:104,0,15312:54760643	8	0	13	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11917.16	37	chr19	54760651	.	G	C	11917.16	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.207e+00;DP=4125;ExcessHet=11.8493;FS=0.785;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=54.02;MQRankSum=-7.539e+00;QD=3.52;ReadPosRankSum=-5.850e-01;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,32:406:99:0|1:54760643_A_G:218,0,15585:54760643	8	0	13	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	5323.44	37	chr19	54760659	.	G	A	5323.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.612e+00;DP=4063;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=53.72;MQRankSum=-6.027e+00;QD=3.24;ReadPosRankSum=-3.710e-01;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:378,36:414:99:0|1:54760643_A_G:374,0,15764:54760643	16	0	5	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	14816.48	37	chr19	54760665	.	T	C	14816.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.128e+00;DP=4120;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=54.82;MQRankSum=-8.959e+00;QD=3.99;ReadPosRankSum=1.59;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,37:411:99:0|1:54760643_A_G:428,0,15593:54760643	7	0	14	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15285.48	37	chr19	54760676	.	T	A	15285.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.658e+00;DP=4024;ExcessHet=14.4320;FS=0.732;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=55.58;MQRankSum=-9.713e+00;QD=4.21;ReadPosRankSum=2.84;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:361,37:398:99:0|1:54760643_A_G:467,0,15047:54760643	7	0	14	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15714.52	37	chr19	54760692	.	A	G	15714.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.369e+00;DP=3836;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.22;MQRankSum=-1.158e+01;QD=4.47;ReadPosRankSum=4.04;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:351,37:388:99:0|1:54760643_A_G:497,0,14586:54760643	7	0	14	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15927.52	37	chr19	54760695	.	T	C	15927.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.378e+00;DP=3798;ExcessHet=14.4320;FS=0.728;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.26;MQRankSum=-1.138e+01;QD=4.62;ReadPosRankSum=4.12;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:345,37:382:99:0|1:54760643_A_G:515,0,14328:54760643	7	0	14	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	59730.09	38	chr19	54767353	.	A	C,*	59730.09	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=-1.860e+00;DP=4843;ExcessHet=0.1361;FS=0.529;InbreedingCoeff=0.2741;MLEAC=13,2;MLEAF=0.310,0.048;MQ=58.91;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.166;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:303,265,0:568:99:.:.:6107,0,7701,7608,9089,19823	10	4	5	0
chr19	54775321	54775321	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A527G:p.K176R	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.001	B	.	.	1.000	N	-0.105	N	1.98	T	-1.002	T	0.021	T	0.246	-0.452	1.906	-0.528	0.045	0.507	3.540	0.018	.	.	0.0285543	.	.	.	.	.	.	.	.	0.0054941	143	26028	rs551912555	8.066e-07	3.135e-06	0	1.627e-06	1.358e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.358e-05	0	9.404e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.991	0.02359	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.98	0.21865	T	-0.69	0.19933	N	0.037	0.01135	-1.0019	0.29372	T	0.021	0.09101	T	9	0.004271269	0.00086	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.019697881130799132	0.01922	0.286032070692	0.31010	0.328735619783	0.14742	T	0.004251	0.03660	T	-0.268425	0.11932	T	-0.62335	0.10925	T	0.097581160795981	0.12089	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04159	B	.;.	.;.	0.196263	0.05818	2.258	0.65962790167702579	0.07922	0.00008	0.00134	N	AEFBI	0.015820	0.00321	N	-1.50332710389849	0.01828	0.08013823	-1.56523357978012	0.01873	0.08537886	1.69642889776649E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.528	0.11310	0.180000	0.16672	.	.	-1.221000	0.01338	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2906:0.0:0.7094:0.0	3.540	0.07364	976	0.04745	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	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:365,0,90:455:99:0|1:54775315_G_T:2680,3779,19016,0,15237,14966:54775315	14	0	1	0
chr19	54775321	54775321	A	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:365,0,90:455:99:0|1:54775315_G_T:2680,3779,19016,0,15237,14966:54775315	14	0	1	0
chr19	54775322	54775322	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G528C:p.K176N	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.375	B	0.035	B	.	.	1.000	N	1.405	L	1.96	T	-1.032	T	0.034	T	0.215	0.284	5.538	-0.175	0.019	-1.768	4.925	0.019	.	.	0.0201677	.	.	.	.	.	.	.	.	0.0038804	101	26028	rs142432377	2.414e-06	7.05e-06	0	4.87e-06	4.068e-05	6.4e-07	1.8e-07	1.08e-05	5e-06	0	0	0	0	0	0	0	0	4.068e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.226	0.26467	T	0.375	0.34209	B	0.035	0.22741	B	.	.	.	.	1	0.08975	N	.	.	.	1.96	0.22270	T	-0.52	0.16187	N	0.087	0.12484	-1.0322	0.19745	T	0.034	0.14509	T	9	0.004861355	0.00104	T	.	.	.	0.019	0.03383	0.372	0.38340	0.227934060464	0.22382	0.025502537409497105	0.02501	0.404161105383	0.41326	0.335895627737	0.15823	T	0.004204	0.03611	T	-0.284357	0.10210	T	-0.646235	0.09220	T	0.0611866430199818	0.07353	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.42052	B	.;.	.;.	-0.534999	0.01758	0.133	0.94203204982077993	0.24439	0.00039	0.00329	N	AEFBI	0.018778	0.00597	N	-1.06418851789445	0.07312	0.3392801	-1.222503267997	0.05550	0.2647508	1.6514964015941E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.175	0.12662	-4.523000	0.00254	.	.	-2.710000	0.00207	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5946:0.4054:0.0	4.925	0.13239	976	0.04745	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	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:365,0,90:455:99:0|1:54775315_G_T:2680,3779,19016,0,15237,14966:54775315	14	0	1	0
chr19	54775322	54775322	G	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:365,0,90:455:99:0|1:54775315_G_T:2680,3779,19016,0,15237,14966:54775315	14	0	1	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S	.	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.008	B	.	.	1.000	N	-1.335	N	5.92	T	-0.965	T	0.001	T	0.053	-2.647	0	-2.83	-1.271	-4.121	6.440	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	8919.01	37	chr19	54805015	.	T	C	8919.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.270e-01;DP=3894;ExcessHet=4.7172;FS=2.661;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.185e+01;QD=3.49;ReadPosRankSum=0.485;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:327,31:358:99:0|1:54805015_T_C:317,0,13591:54805015	12	0	9	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L	.	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.542	P	0.333	B	.	.	1.000	N	1.725	L	5.83	T	-0.970	T	0.003	T	0.121	1.105	9.508	-2.7	-0.974	-0.428	2.255	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	8818.01	37	chr19	54805016	.	T	A	8818.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-7.130e-01;DP=3903;ExcessHet=4.7172;FS=3.895;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.197e+01;QD=3.42;ReadPosRankSum=0.322;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:328,31:359:99:0|1:54805015_T_C:314,0,13656:54805015	12	0	9	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R	.	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.025	B	0.014	B	0.900	U	1.000	N	1.445	L	5.78	T	-0.926	T	0.003	T	0.132	0.330	5.790	-0.942	-0.378	-0.780	4.279	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2381	10370.19	37	chr19	54805024	.	A	G	10370.19	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-4.070e-01;DP=4027;ExcessHet=6.1002;FS=3.749;InbreedingCoeff=-0.2989;MLEAC=9;MLEAF=0.214;MQ=59.11;MQRankSum=-1.124e+01;QD=3.60;ReadPosRankSum=0.390;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:327,33:360:99:0|1:54805015_T_C:381,0,13529:54805015	11	0	10	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I	.	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.004	B	0.005	B	0.591	U	1.000	N	1.77	L	2.55	T	-0.987	T	0.033	T	0.099	-0.227	2.901	-2.28	-1.442	-2.050	6.335	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	11569.11	37	chr19	54805033	.	C	T	11569.11	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.870e-01;DP=4523;ExcessHet=9.6308;FS=5.420;InbreedingCoeff=-0.4114;MLEAC=12;MLEAF=0.286;MQ=59.15;MQRankSum=-1.246e+01;QD=3.36;ReadPosRankSum=-4.370e-01;SOR=1.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:328,39:367:99:0|1:54805015_T_C:566,0,13414:54805015	9	0	12	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V	.	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.011	B	0.009	B	0.168	N	1.000	N	0.08	N	2.74	T	-1.017	T	0.015	T	0.072	-2.393	0.003	-0.275	-0.112	-0.220	3.173	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3421	12807.67	37	chr19	54805068	.	A	G	12807.67	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.640e+00;DP=4275;ExcessHet=11.8493;FS=4.752;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.368;MQ=58.95;MQRankSum=-1.149e+01;QD=3.70;ReadPosRankSum=0.620;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:279,49:328:99:.:.:796,0,7572	6	0	13	2
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F	.	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.198	B	0.327	B	.	.	1.000	N	2.125	M	5.76	T	-0.946	T	0.005	T	0.221	0.808	8.245	-0.172	-0.120	0.024	3.728	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	9084.15	108	chr19	54805957	.	A	T	9084.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.15;DP=4262;ExcessHet=11.8493;FS=0.848;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.77;MQRankSum=-1.667e+01;QD=2.69;ReadPosRankSum=1.69;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,26:316:99:0|1:54805940_TCTC_T:219,0,12099:54805940	8	0	13	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G	.	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.007	B	0.006	B	.	.	1.000	N	0.675	N	5.81	T	-0.937	T	0.002	T	0.192	0.190	5.025	-1.55	-0.654	-0.494	4.324	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	9747.15	108	chr19	54805960	.	A	G	9747.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.407;DP=4341;ExcessHet=11.8493;FS=1.800;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.74;MQRankSum=-1.688e+01;QD=2.82;ReadPosRankSum=1.56;SOR=0.860	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:298,27:325:99:0|1:54805940_TCTC_T:237,0,12432:54805940	8	0	13	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S	.	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.001	B	0.001	N	1.000	N	-2.79	N	2.73	T	-0.875	T	0.006	T	0.022	-2.303	0.004	-0.047	-0.086	0.239	3.134	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	15353.15	108	chr19	54805974	.	A	T	15353.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.50;DP=4725;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.65;MQRankSum=-1.628e+01;QD=4.01;ReadPosRankSum=0.664;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:320,36:356:99:0|1:54805940_TCTC_T:463,0,13259:54805940	8	0	13	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q	.	.	421	659	441	1	0	443	0.251562	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.02	B	0.001	B	0.465	N	1.000	N	-2.62	N	2.75	T	-0.952	T	0.004	T	0.043	-2.074	0.006	-1.94	-0.822	-1.007	1.446	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	19196.15	108	chr19	54805981	.	G	A	19196.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=2.63;DP=5055;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.67;MQRankSum=-1.608e+01;QD=4.63;ReadPosRankSum=-2.990e-01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:338,49:387:99:0|1:54805940_TCTC_T:734,0,13713:54805940	8	0	13	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K	.	.	416	603	500	3	0	506	0.295561	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.077	B	0.073	B	0.219	U	1.000	N	2.025	M	2.69	T	-1.014	T	0.041	T	0.15	-0.307	2.540	-2.07	-1.920	-1.601	4.213	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	25116.68	292	chr19	54806034	.	C	A	25116.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.535e+00;DP=7277;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.67;MQRankSum=-1.709e+01;QD=5.20;ReadPosRankSum=1.71;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:412,68:480:99:0|1:54806034_C_A:1615,0,16978:54806034	8	0	12	1
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R	.	.	417	602	500	3	0	506	0.295906	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.02	B	0.219	N	1.000	N	-0.195	N	2.67	T	-0.982	T	0.015	T	0.086	-2.553	0.003	-1.76	-1.632	0.104	6.415	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	25188.68	292	chr19	54806035	.	A	G	25188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.795e+00;DP=7269;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.69;MQRankSum=-1.721e+01;QD=5.19;ReadPosRankSum=1.92;SOR=0.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:414,69:483:99:0|1:54806034_C_A:1651,0,17059:54806034	8	0	12	1
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M	.	.	413	617	488	4	0	496	0.286705	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.022	B	0.06	B	0.022	N	1.000	N	-0.28	N	2.71	T	-0.951	T	0.016	T	0.09	-4.753	0.001	-2.09	-4.463	-0.751	4.6	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3158	22542.15	292	chr19	54806051	.	C	G	22542.15	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.004e+00;DP=7737;ExcessHet=9.6308;FS=2.445;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.342;MQ=57.95;MQRankSum=-1.708e+01;QD=4.53;ReadPosRankSum=3.86;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:431,64:495:99:0|1:54806034_C_A:1390,0,17905:54806034	7	0	12	2
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3	.	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	24607.11	292	chr19	54806072	.	GGA	G	24607.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.628;DP=7660;ExcessHet=11.8493;FS=3.525;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.97;MQRankSum=-1.728e+01;QD=4.45;ReadPosRankSum=2.39;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:454,54:508:99:0|1:54806034_C_A:901,0,18901:54806034	8	0	13	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78	.	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	28945.47	292	chr19	54806075	.	A	AGG	28945.47	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-5.960e-01;DP=7796;ExcessHet=14.4320;FS=3.507;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=57.86;MQRankSum=-1.730e+01;QD=4.78;ReadPosRankSum=2.42;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:450,55:505:99:0|1:54806034_C_A:955,0,18730:54806034	6	0	14	1
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P	.	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.024	B	0.044	B	.	.	1.000	N	0.83	L	5.72	T	-0.892	T	0.002	T	0.193	-1.464	0.019	-1.46	-2.181	-4.220	0.244	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	29384.38	292	chr19	54806086	.	T	C	29384.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.199e+00;DP=7767;ExcessHet=17.4423;FS=4.575;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.83;MQRankSum=-1.735e+01;QD=4.51;ReadPosRankSum=0.065;SOR=1.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:438,55:493:99:0|1:54806034_C_A:991,0,18226:54806034	6	0	15	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V	.	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	N	1.000	N	-1.53	N	2.72	T	-0.970	T	0.008	T	0.063	-3.538	0.001	-0.854	-3.514	-0.448	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	24913.38	292	chr19	54806109	.	A	G	24913.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.236e+00;DP=7520;ExcessHet=17.4423;FS=7.542;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=58.03;MQRankSum=-1.656e+01;QD=3.98;ReadPosRankSum=-3.141e+00;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:411,57:468:99:0|1:54806034_C_A:1156,0,17086:54806034	6	0	15	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D	.	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.012	B	0.024	B	0.006	U	1.000	N	0.765	N	2.53	T	-0.990	T	0.026	T	0.033	-0.167	3.186	-0.795	-0.445	-1.162	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	9512.01	292	chr19	54806112	.	A	G	9512.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.490e-01;DP=7263;ExcessHet=4.7172;FS=5.109;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.76;MQRankSum=-1.587e+01;QD=2.63;ReadPosRankSum=-2.764e+00;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:412,56:468:99:0|1:54806034_C_A:1111,0,17131:54806034	12	0	9	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S	.	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.006	B	0.003	B	0.046	U	1.000	N	0.13	N	7.15	T	-0.925	T	0.001	T	0.11	-1.679	0.012	-1.7	-1.068	-0.084	2.159	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	25713.48	41	chr19	54808838	.	C	T	25713.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=3.86;DP=5771;ExcessHet=14.4320;FS=0.714;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.82;MQRankSum=-1.875e+01;QD=4.71;ReadPosRankSum=0.460;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:361,48:409:99:0|1:54808838_C_T:929,0,14928:54808838	7	0	14	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5	.	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28348.44	41	chr19	54808850	.	TGG	T	28348.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.40;DP=6077;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=4.95;ReadPosRankSum=0.095;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:379,54:433:99:0|1:54808838_C_T:1127,0,15731:54808838	7	0	14	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15	.	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28654.44	41	chr19	54808853	.	C	CAT	28654.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.62;DP=6070;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=5.01;ReadPosRankSum=-1.110e-01;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,54:428:99:0|1:54808838_C_T:1142,0,15521:54808838	7	0	14	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S	.	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.491	U	1.000	N	-1.24	N	7.38	T	-0.982	T	0.000	T	0.081	-2.864	0	-1.7	-0.659	-3.350	3.991	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	29056.48	41	chr19	54808875	.	T	C	29056.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.156;DP=6159;ExcessHet=14.4320;FS=1.502;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.16;MQRankSum=-1.759e+01;QD=5.05;ReadPosRankSum=-6.680e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/1:381,53:434:99:1082,0,10536	7	0	14	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	15952.71	34	chr19	54847203	.	T	C,*	15952.71	.	AC=11,6;AF=0.262,0.143;AN=42;BaseQRankSum=-1.075e+00;DP=8145;ExcessHet=25.1139;FS=1.133;InbreedingCoeff=-0.6800;MLEAC=11,6;MLEAF=0.262,0.143;MQ=59.51;MQRankSum=-4.222e+00;QD=2.08;ReadPosRankSum=-1.400e-01;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:366,116,0:482:99:.:.:1932,0,11496,3031,11843,14874	4	0	11	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F	.	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.957	D	0.987	U	1.000	N	1.885	L	5.76	T	-0.914	T	0.007	T	0.13	2.147	13.14	-0.254	-0.134	-1.675	3.712	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	20296.38	88	chr19	54855625	.	A	T	20296.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-8.030e-01;DP=5048;ExcessHet=17.4423;FS=6.158;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.76;MQRankSum=-1.439e+01;QD=4.26;ReadPosRankSum=0.340;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,35:330:99:0|1:54855608_TCTC_T:582,0,12265:54855608	6	0	15	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G	.	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.99	D	0.407	U	1.000	N	0.715	N	5.81	T	-0.864	T	0.005	T	0.109	0.702	7.744	0.993	0.705	-1.951	4.242	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	19524.38	88	chr19	54855628	.	A	G	19524.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.458e+00;DP=5081;ExcessHet=17.4423;FS=6.361;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.81;MQRankSum=-1.448e+01;QD=4.07;ReadPosRankSum=0.351;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,33:334:99:0|1:54855608_TCTC_T:480,0,12498:54855608	6	0	15	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R	.	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	-0.69	N	7.32	T	-0.976	T	0.001	T	0.094	-0.882	0.475	-0.763	-1.126	-1.523	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31702.71	90	chr19	54865810	.	T	C	31702.71	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.293e+00;DP=3755;ExcessHet=14.4320;FS=1.258;InbreedingCoeff=-0.5016;MLEAC=14;MLEAF=0.333;MQ=58.31;MQRankSum=-9.487e+00;QD=9.30;ReadPosRankSum=1.76;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,50:245:99:0|1:54865794_T_C:1513,0,8038:54865794	7	0	14	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I	.	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.259	B	0.269	B	.	.	1.000	N	0.7	N	7.31	T	-0.975	T	0.001	T	0.028	-1.590	0.014	-1.58	-0.698	-0.374	3.986	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.35	30212.51	90	chr19	54865825	.	G	A	30212.51	.	AC=14;AF=0.350;AN=40;BaseQRankSum=0.417;DP=3951;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=58.36;MQRankSum=-1.018e+01;QD=8.39;ReadPosRankSum=2.06;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,52:258:99:0|1:54865794_T_C:1563,0,8493:54865794	6	0	14	1
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A	.	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.988	D	0.985	D	0.029	N	1.000	N	0.125	N	7.27	T	-0.917	T	0.002	T	0.051	-1.319	0.034	-1.58	-1.598	-0.458	5.878	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31525.16	90	chr19	54865847	.	T	C	31525.16	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.74;DP=3983;ExcessHet=14.4320;FS=0.597;InbreedingCoeff=-0.5108;MLEAC=14;MLEAF=0.333;MQ=58.27;MQRankSum=-1.006e+01;QD=8.70;ReadPosRankSum=0.977;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,54:261:99:0|1:54865794_T_C:1644,0,8529:54865794	7	0	14	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I	.	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.521	N	1.000	N	-2.6	N	7.41	T	-0.951	T	0.000	T	0.186	-2.169	0.005	-0.556	-1.246	-2.075	1.833	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	28126.08	90	chr19	54865852	.	T	A	28126.08	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.146e+00;DP=3964;ExcessHet=11.8493;FS=0.602;InbreedingCoeff=-0.4757;MLEAC=13;MLEAF=0.325;MQ=58.29;MQRankSum=-1.050e+01;QD=8.38;ReadPosRankSum=0.494;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,53:259:99:0|1:54865794_T_C:1605,0,8490:54865794	7	0	13	1
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I	.	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.021	B	0.026	N	1.000	N	-0.145	N	7.01	T	-0.867	T	0.001	T	0.124	-3.306	0.001	-1.51	-3.388	-1.355	6.404	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26881.91	90	chr19	54865864	.	C	A	26881.91	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.450e-01;DP=3884;ExcessHet=11.8493;FS=0.608;InbreedingCoeff=-0.4745;MLEAC=13;MLEAF=0.325;MQ=58.33;MQRankSum=-9.748e+00;QD=8.20;ReadPosRankSum=-7.570e-01;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,52:258:99:0|1:54865794_T_C:1563,0,8493:54865794	7	0	13	1
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F	.	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.997	D	0.959	U	1.000	N	1.445	L	6.74	T	-0.940	T	0.004	T	0.25	0.087	4.467	-1.58	-0.826	-0.444	2.405	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26642.8	90	chr19	54865870	.	C	T	26642.8	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.75;DP=3832;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=58.31;MQRankSum=-9.500e+00;QD=8.27;ReadPosRankSum=-1.440e+00;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,51:248:99:0|1:54865794_T_C:1548,0,8118:54865794	7	0	13	1
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H	.	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.008	B	0.001	N	1.000	N	-2.525	N	7.27	T	-0.904	T	0.000	T	0.061	-2.893	0.001	-0.356	-0.649	-0.514	4.953	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	23642.28	90	chr19	54865885	.	T	C	23642.28	.	AC=13;AF=0.325;AN=40;BaseQRankSum=3.17;DP=3617;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4940;MLEAC=14;MLEAF=0.350;MQ=58.28;MQRankSum=-9.078e+00;QD=7.87;ReadPosRankSum=-1.919e+00;SOR=0.730	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,42:235:99:0|1:54865794_T_C:1183,0,7978:54865794	7	0	13	1
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C	.	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.997	D	0.003	U	1.000	N	1.9	L	7.01	T	-0.926	T	0.005	T	0.315	0.191	5.027	0.792	0.706	-0.531	4.875	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	22402.2	90	chr19	54865888	.	C	T	22402.2	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.84;DP=3561;ExcessHet=11.8493;FS=0.626;InbreedingCoeff=-0.4886;MLEAC=14;MLEAF=0.350;MQ=58.25;MQRankSum=-9.209e+00;QD=7.57;ReadPosRankSum=-1.902e+00;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,42:231:99:0|1:54865794_T_C:1192,0,7805:54865794	7	0	13	1
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C	.	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.005	U	1.000	N	2.56	M	7.16	T	-0.938	T	0.005	T	0.423	0.755	7.999	0.792	0.706	0.774	4.875	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	21734.24	90	chr19	54865893	.	G	C	21734.24	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.60;DP=3482;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4768;MLEAC=13;MLEAF=0.325;MQ=58.20;MQRankSum=-8.978e+00;QD=7.60;ReadPosRankSum=-2.084e+00;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,39:225:99:0|1:54865794_T_C:1075,0,7659:54865794	7	0	13	1
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E	.	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	.	.	1.000	N	-1.735	N	7.23	T	-0.988	T	0.000	T	0.038	-2.832	0	-1.86	-0.450	0.343	6.644	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	15435.48	140	chr19	54866420	.	C	G	15435.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.889e+00;DP=4431;ExcessHet=14.4320;FS=9.928;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.11;MQRankSum=-1.691e+01;QD=3.94;ReadPosRankSum=1.08;SOR=0.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:276,30:306:99:0|1:54866416_T_C:429,0,11499:54866416	7	0	14	0
chr19	54888106	54888106	A	C	exonic	FCAR	.	nonsynonymous SNV	FCAR:NM_133277:exon2:c.A134C:p.D45A	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.938	D	0.050	N	1.000	N	2.475	M	2.74	T	-1.092	T	0.078	T	0.485	1.890	12.28	1.8	0.457	2.710	5.910	0.092	0.00200652602765	.	0.00119808	0.0006	0	8.643e-05	0	0	0.0002	0.0011	0.0037	0.0005433	84	154602	rs587716380	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	2.236e-05	0	0	0	0.0009	4.407e-05	0.0003	0.0035	0.0002	0.0002	7.709e-05	0.0003	0.0040	0.0001	0.0001	0.0026	0.0022	2.407e-05	0	0	0	0	0	0	7.351e-05	0.0005	0.0040	0.071	0.49613	T	0.011	0.70582	D	1.0	0.90584	D	0.915	0.65091	D	0.050035	0.23108	N	0.213208	1	0.08975	N	2.325	0.66631	M	2.74	0.11730	T	-5.32	0.84525	D	0.358	0.47857	-1.0924	0.05144	T	0.078	0.30982	T	10	0.009690106	0.00218	T	0.002007	0.03642	T	0.092	0.26621	.	.	0.382087116544	0.37822	0.24075395532340407	0.23989	0.384340615699	0.39735	0.327450782061	0.14550	T	0.128474	0.45615	T	-0.468983	0.00862	T	-0.449174	0.27787	T	0.116993089604471	0.14132	T	.	.	.	0.19766687	0.41640	0.15770476	0.36863	0.19766687	0.41640	0.15770476	0.36862	-7.569	0.58094	D	.	.	0.777	0.76259	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.483547	0.32028	18.92	0.97628642511042008	0.35006	0.03771	0.09087	N	AEFDBI	0.076210	0.15325	N	-0.154619093703237	0.35039	2.007581	-0.411335869221592	0.24664	1.351907	0.0010995341888054	0.08217	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.86	1.8	0.24069	1.670000	0.37118	.	.	0.665000	0.62972	0.010000	0.18352	0.001000	0.17328	0.098000	0.18187	0.7272:0.2728:0.0:0.0	5.910	0.18265	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2499.98	37	chr19	54888106	.	A	C	2499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.843;DP=904;ExcessHet=0.0000;FS=1.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=0.538;SOR=0.843	GT:AD:DP:GQ:PL	0/1:102,98:200:99:2514,0,2676	20	0	1	0
chr19	54983154	54983154	G	A	exonic	NLRP2	.	nonsynonymous SNV	NLRP2:NM_001174082:exon5:c.G1390A:p.G464R	.	.	0	1512	10	0	0	10	0.00329598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.007	B	0.009	B	0.144	N	1.000	N	-1.525	N	-0.68	T	-0.958	T	0.102	T	0.132	-1.997	0.007	-0.647	-0.181	-0.113	4.584	0.075	0.00799687025029	.	.	8.415e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs763292353	6.362e-05	6.362e-05	4.22e-05	8.526e-05	0.0008	5.295e-05	4.911e-05	0.0007	0.0006	0	0	0	0	0	0	1.529e-05	9.936e-05	0.0008	3.295e-05	3.944e-05	3.864e-05	2.699e-05	0.0006	1.264e-05	8e-06	0.0002	9.018e-05	0	0	0	0	0	0	0	1.471e-05	0.0005	0.0006	0.828	0.03085	T	1.0	0.01155	T	0.004	0.13644	B	0.004	0.14300	B	0.143755	0.02906	N	2.038200	1	0.08975	N	-0.77	0.01674	N	-0.74	0.73523	T	0.28	0.04233	N	0.103	0.09207	-0.9583	0.39497	T	0.102	0.37644	T	10	0.034043938	0.01599	T	0.007997	0.21213	T	0.075	0.21907	0.645	0.78224	0.377097596864	0.37317	0.2596106878981499	0.25875	0.0507363999243	0.05571	0.265839934349	0.05606	T	0.006125	0.05559	T	-0.448486	0.01153	T	-0.51091	0.21221	T	0.00660901908416001	0.00074	T	.	.	.	0.035241693	0.04110	0.040200043	0.04289	0.035241693	0.04110	0.040200043	0.04289	-1.649	0.02099	T	.	.	0.095	0.21466	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.096339	0.03663	0.736	0.13865412546281899	0.00287	0.00314	0.01657	N	AEFDBI	0.048887	0.08390	N	-1.63767121474068	0.01088	0.04722539	-1.62435684516255	0.01514	0.06854422	9.7624206563711E-5	0.04910	0.706298	0.61202	0	0.709663	0.81188	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	1.9	-0.647	0.10892	0.148000	0.16042	.	.	-0.341000	0.05685	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.5258:0.0:0.4742:0.0	4.584	0.11668	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2319.98	40	chr19	54983154	.	G	A	2319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.273;DP=2080;ExcessHet=0.0000;FS=4.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.81;MQRankSum=-9.160e-01;QD=9.71;ReadPosRankSum=-7.700e-01;SOR=0.482	GT:AD:DP:GQ:PL	0/1:138,101:239:99:2334,0,3465	20	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1402.14	99	chr19	55358524	.	C	*,T	1402.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2198;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.80;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,85,0:85:99:.:.:3741,262,0,3741,262,3741	0	18	2	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1530.14	99	chr19	55358535	.	T	*,C	1530.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2199;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.88;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,85,0:85:99:.:.:3741,262,0,3741,262,3741	0	18	2	0
chr19	55818012	55818012	C	T	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001385451:exon4:c.G163A:p.V55M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.024	B	0.046	B	.	.	1.000	N	-0.345	N	0.82	T	-1.030	T	0.045	T	0.079	-0.899	0.440	-5.68	-4.082	-1.905	0.689	0.038	0.00278344543637	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs200170935	2.669e-05	2.668e-05	2.451e-05	2.889e-05	8.116e-05	1.998e-05	1.754e-05	3.766e-05	2.662e-05	0	0	0	2.519e-05	0	0	2.609e-05	3.313e-05	8.116e-05	1.314e-05	1.313e-05	1.285e-05	1.344e-05	6.543e-05	2.18e-06	8.2e-07	.	.	0	0	6.543e-05	0	0	9.427e-05	0	0	0	0	.	.	.	0.041	0.50514	D	0.024	0.19075	B	0.046	0.24676	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	0.82	0.48142	T	.	.	.	0.081	0.05670	-1.0296	0.20583	T	0.045	0.19194	T	9	0.040356904	0.02598	T	0.002783	0.05781	T	.	.	0.464	0.53404	0.263140351381	0.25927	0.1392132602502698	0.13844	.	.	0.325153976679	0.14201	T	0.004815	0.04227	T	-0.477476	0.00765	T	-0.75451	0.03313	T	0.0440322914597304	0.04426	T	0.586841	0.21439	T	0.02555867	0.01508	0.04921767	0.07475	0.02555867	0.01507	0.04921767	0.07474	-2.963	0.09788	T	.	.	0.116	0.23360	B	.;.	.;.	-0.803313	0.01100	0.049	0.59045724391387311	0.06132	0.00080	0.00545	N	AEFBI	0.016709	0.00393	N	-2.24302593330208	0.00061	0.002630156	-2.33641839341886	0.00055	0.002415393	0.999988122175511	0.51787	0.487112	0.14033	0	0.491513	0.07743	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.84	-5.68	0.02240	-1.614000	0.02160	-1.279000	0.05831	-1.951000	0.00483	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2006:0.2902:0.2304:0.2788	0.689	0.00832	792	0.45996	.;DAPIN domain|DAPIN domain|DAPIN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1455.98	33	chr19	55818012	.	C	T	1455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.756;DP=841;ExcessHet=0.0000;FS=1.432;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=1.36;SOR=0.566	GT:AD:DP:GQ:PL	0/1:69,55:124:99:1470,0,1777	20	0	1	0
chr20	3027761	3027761	A	G	exonic	PTPRA	.	nonsynonymous SNV	PTPRA:NM_001385318:exon15:c.A1423G:p.I475V	.	.	.	.	.	.	.	.	.	.	.	3318507	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.005	B	0.000	U	1.000	D	-0.965	N	-1.72	D	-0.750	T	0.191	T	0.283	-0.040	3.808	5.58	2.122	4.307	11.291	0.263	0.0195860573925	.	.	0.0002	0	0	0	0	0.0001	0	0.0008	0.0001358	21	154602	rs774971415	7.593e-05	7.593e-05	5.309e-05	9.901e-05	0.0029	6.423e-05	6.004e-05	0.0019	0.0015	0	4.472e-05	0	0	0	0.0029	8.993e-06	9.935e-05	0.0009	4.599e-05	4.594e-05	2.571e-05	6.719e-05	0.0010	2.109e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	0.000186	0.48115	U	0.178902	0.999552	0.47544	D	-1.375	0.00634	N	-1.72	0.83241	D	0.65	0.02332	N	0.14	0.13911	-0.7502	0.57925	T	0.191	0.54315	T	10	0.02626133	0.00797	T	0.019586	0.41992	T	0.263	0.57612	.	.	0.398365109743	0.39450	0.19829515695027	0.19746	0.536254817001	0.50962	0.550503432751	0.45928	T	0.313618	0.68535	T	-0.309203	0.07818	T	-0.28168	0.46632	T	0.0472043434979194	0.05001	T	0.830117	0.49576	T	0.07147833	0.15828	0.06362573	0.12630	0.07147833	0.15828	0.06362573	0.12629	-1.333	0.01455	T	.	.	0.057	0.00658	B	.;.;.;.;.	.;.;.;.;.	4.329708	0.66332	24.9	0.66262342534938024	0.08007	0.93189	0.57558	D	AEFBI	0.420160	0.48710	N	-0.43831147218636	0.24138	1.301246	-0.134086876237936	0.34026	1.952733	0.416655640886429	0.20257	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	3.639000	0.54079	9.142000	0.78915	0.756000	0.94297	0.997000	0.40164	1.000000	0.68203	0.999000	0.91618	0.7199:0.2801:0.0:0.0	11.291	0.48487	632	0.64850	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.;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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1178.98	39	chr20	3027761	.	A	G	1178.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.199;DP=880;ExcessHet=0.0000;FS=0.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=-1.229e+00;SOR=0.680	GT:AD:DP:GQ:PL	0/1:68,49:117:99:1193,0,1818	20	0	1	0
chr20	3223417	3223417	G	A	exonic	ITPA	.	nonsynonymous SNV	ITPA:NM_001324236:exon7:c.G203A:p.G68E	Epileptic encephalopathy, early infantile, 35, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	716898	Inosine_triphosphatase_deficiency|not_provided	MONDO:MONDO:0013461,MedGen:C0342800,OMIM:613850|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000599042	0.0009	0	0	0.0034	0.0035	0.0007	0.0023	0.0006	0.0008279	128	154602	rs202174987	0.0004	0.0004	0.0004	0.0004	0.0032	0.0004	0.0004	0.0028	0.0026	2.987e-05	0	0	0.0032	0.0036	0.0002	0.0001	0.0006	0.0007	0.0004	0.0004	0.0003	0.0005	0.0021	0.0003	0.0003	0.0012	0.0009	0	0	0	0	0.0021	0.0038	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1367.98	36	chr20	3223417	.	G	A	1367.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.440e-01;DP=959;ExcessHet=0.0000;FS=1.474;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-1.415e+00;SOR=0.538	GT:AD:DP:GQ:PL	0/1:57,60:117:99:1382,0,1365	20	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.805	M	1.81	T	-0.672	T	0.200	T	0.989	4.476	23.9	5.24	2.630	7.128	16.698	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	3189.23	101	chr20	3803192	.	G	C	3189.23	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.821e+00;DP=2547;ExcessHet=20.9642;FS=188.196;InbreedingCoeff=-0.6177;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=1.63;SOR=13.596	GT:AD:DP:GQ:PL	0/1:58,58:124:99:565,0,869	5	0	16	0
chr20	20017437	20017437	G	A	exonic	NAA20	.	nonsynonymous SNV	NAA20:NM_016100:exon1:c.G41A:p.R14H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	B	0.008	B	0.002	N	1.000	D	2.06	M	0.51	T	-0.886	T	0.165	T	0.353	3.879	19.71	4.29	2.214	5.030	15.718	0.100	0.699449972589	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1194110162	6.853e-07	1.368e-06	1.364e-06	0	1.162e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.50676	D	0.073	0.43159	T	0.004	0.12183	B	0.001	0.04355	B	0.002339	0.36766	N	0.233413	0.997408	0.81001	D	2.24	0.63355	M	0.5	0.55608	T	-2.86	0.62151	D	0.141	0.34659	-0.8861	0.49265	T	0.165	0.50258	T	9	0.39552882	0.55198	T	0.69945	0.97538	D	0.100	0.28662	0.469	0.54214	0.69951871678	0.69692	0.6935256555611444	0.69293	0.63298484887	0.57209	0.835363745689	0.87386	D	0.187538	0.54117	T	-0.0368187	0.46421	T	-0.290664	0.45705	T	0.817478745044665	0.47586	D	0.983635	0.94447	D	0.5021117	0.67219	0.34344915	0.60056	0.5021117	0.67220	0.34344915	0.60055	-7.105	0.54797	T	.	.	0.116	0.35992	B	.;.	.;.	4.497563	0.70319	25.5	0.9984592392225532	0.92576	0.50920	0.28775	D	AEFGBHCIJ	0.768544	0.70408	D	0.032237101026788	0.43327	2.627723	0.156499977898535	0.47486	2.978205	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.29	4.29	0.50359	4.220000	0.58364	11.604000	0.93497	0.489000	0.22316	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	15.718	0.77447	630	0.65016	GNAT domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2169.98	33	chr20	20017437	.	G	A	2169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.810e-01;DP=915;ExcessHet=0.0000;FS=3.453;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.275;SOR=0.513	GT:AD:DP:GQ:PL	0/1:84,93:177:99:2184,0,1942	20	0	1	0
chr20	20047818	20047818	T	C	exonic	CRNKL1	.	nonsynonymous SNV	CRNKL1:NM_001278628:exon5:c.A569G:p.N190S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.129	B	0.041	B	0.000	D	1.000	D	2.205	M	2.99	T	-1.140	T	0.040	T	0.202	3.295	17.07	5.62	2.145	8.040	15.829	0.099	0.020320052778	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs769203360	6.156e-06	6.156e-06	6.806e-06	5.5e-06	1.159e-05	2.9e-06	2.1e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.34621	T	0.081	0.42086	T	0.129	0.27048	B	0.041	0.23986	B	0.000002	0.62929	D	0.161948	1	0.81001	D	1.435	0.35949	L	2.99	0.09262	T	-2.68	0.57762	D	0.843	0.92200	-1.1401	0.01354	T	0.040	0.17020	T	10	0.67370474	0.70865	D	0.02032	0.42890	T	0.099	0.28413	0.429	0.47680	0.415955377315	0.41215	0.5421553398577006	0.54140	0.227101430586	0.25262	0.757947444916	0.75624	T	0.107725	0.56426	T	-0.189089	0.22391	T	-0.50939	0.21379	T	0.477486995248927	0.31805	T	0.959304	0.84657	D	0.59608364	0.72480	0.49756303	0.70947	0.59608364	0.72481	0.49756303	0.70948	-8.887	0.66966	D	.	.	0.110	0.25978	B	.;.;.	.;.;.	4.101968	0.61177	24.3	0.99233907690411483	0.56310	0.98961	0.89215	D	AEFBI	0.909890	0.86711	D	0.245071571557751	0.53396	3.508579	0.390163425024364	0.60956	4.289417	0.999994886025521	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.017000	0.88732	7.946000	0.75701	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.829	0.78510	783	0.47268	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1106.98	33	chr20	20047818	.	T	C	1106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=817;ExcessHet=0.0000;FS=7.173;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.93;ReadPosRankSum=-1.061e+00;SOR=1.322	GT:AD:DP:GQ:PL	0/1:77,47:124:99:1121,0,1830	20	0	1	0
chr20	21396326	21396326	G	A	exonic	NKX2-4	.	nonsynonymous SNV	NKX2-4:NM_033176:exon2:c.C650T:p.P217L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.95	P	0.988	D	0.000	U	1.000	D	1.625	L	-3.91	D	0.971	D	0.885	D	0.487	4.250	22.1	3.19	1.781	8.876	14.459	0.779	0.81902537112	.	.	1.052e-05	0	0	0	0	0	0	7.339e-05	6.5e-06	1	154602	rs755804118	1.378e-06	1.368e-06	0	2.771e-06	2.358e-05	2.3e-07	9e-08	3.91e-06	1.47e-06	0	0	0	0	0	0	0	0	2.358e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.95	0.53885	P	0.988	0.77976	D	0.000012	0.62929	U	0.000000	1	0.81001	D	0.71	0.18616	N	-3.91	0.96047	D	-9.9	0.98740	D	0.508	0.53972	0.971	0.96710	D	0.885	0.96199	D	10	0.82785296	0.81957	D	0.819025	0.98592	D	0.779	0.92623	0.476	0.55342	0.969224263665	0.96889	0.6809694742161203	0.68035	.	.	0.930470347404	0.99014	D	0.724321	0.92233	D	0.0951191	0.63761	D	0.0822465	0.75727	D	0.819455443737845	0.47732	D	0.922208	0.71716	D	0.8818358	0.89819	0.85161215	0.91612	0.8818358	0.89820	0.85161215	0.91612	-12.147	0.85560	D	.	.	0.984	0.91905	P	.	.	4.929801	0.81271	27.5	0.99888901335128821	0.96359	0.98441	0.82810	D	AEFDBHCI	0.849519	0.76634	D	0.592755631490774	0.72721	5.850572	0.526696148920176	0.69792	5.411239	0.999999999996582	0.74766	0.59774	0.34471	0	0.475579	0.06741	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	3.19	3.19	0.35720	9.274000	0.94942	11.291000	0.92027	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.094000	0.17991	0.0:0.0:1.0:0.0	14.459	0.67013	616	0.66398	Homeobox domain|Homeobox domain, metazoa|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	0	0	0	0	0	0	0	0	0	0	0	0.02381	2231.98	35	chr20	21396326	.	G	A	2231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=912;ExcessHet=0.0000;FS=1.160;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-2.495e+00;SOR=0.605	GT:AD:DP:GQ:PL	0/1:88,90:178:99:2246,0,2070	20	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	1.935	M	1.98	T	-1.040	T	0.128	T	0.791	4.250	22.1	6.17	2.941	5.778	13.996	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	4553.08	146	chr20	34852409	.	G	C	4553.08	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-3.218e+00;DP=3222;ExcessHet=36.0830;FS=276.126;InbreedingCoeff=-0.8285;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=1.76;ReadPosRankSum=0.755;SOR=12.688	GT:AD:DP:GQ:PL	0/1:97,44:151:59:59,0,1717	2	0	19	0
chr20	36829181	36829181	T	C	exonic	SOGA1	.	nonsynonymous SNV	SOGA1:NM_080627:exon3:c.A944G:p.K315R	.	.	422	1091	9	0	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.856	P	0.774	P	0.000	D	1.000	D	0.55	N	2.24	T	-1.105	T	0.044	T	0.096	2.962	15.88	4.53	1.889	2.055	7.801	0.080	0.00633547319676	0.0005	.	0.0009	0.0002	0.0001	0	0	0.0014	0.0033	0.0009	0.0005692	88	154602	rs61729266	0.0005	0.0005	0.0004	0.0005	0.0029	0.0004	0.0004	0.0019	0.0015	2.99e-05	9.011e-05	0.0131	0	0	0.0029	0.0002	0.0012	0.0006	0.0005	0.0005	0.0004	0.0006	0.0010	0.0004	0.0004	0.0004	0.0003	4.812e-05	0	0	0.0130	0	0	0	0.0003	0.0005	0.0010	0.03	0.45393	D	0.035	0.52389	D	.	.	.	.	.	.	0.000089	0.51296	D	0.123888	0.989786	0.24254	N	.	.	.	2.24	0.18414	T	0.28	0.04233	N	0.197	0.21710	-1.1054	0.03497	T	0.044	0.18742	T	10	0.008246005	0.00187	T	0.006335	0.16639	T	0.080	0.23350	.	.	0.043077524339	0.03247	0.08768593272028911	0.08701	0.767873632347	0.64612	0.313371151686	0.12417	T	0.007267	0.06685	T	-0.503342	0.00547	T	-0.6224	0.10998	T	0.0500016242068254	0.05501	T	0.914809	0.84201	D	.	.	.	.	.	.	.	.	-4.559	0.31652	T	.	.	0.085	0.10400	B	.;.	.;.	3.655761	0.51903	23.2	0.99720943335864465	0.82054	0.90041	0.50913	D	AEFGBI	0.196492	0.32347	N	0.224647338575517	0.52397	3.41402	0.264335883384077	0.53470	3.515671	0.999782238829899	0.43007	0.719381	0.83141	0	0.519925	0.08708	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	4.53	4.53	0.55009	1.692000	0.37350	7.893000	0.73158	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0952:0.0:0.9048	7.801	0.28338	751	0.51694	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	861.98	34	chr20	36829181	.	T	C	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.880e-01;DP=774;ExcessHet=0.0000;FS=4.556;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=0.617;SOR=1.019	GT:AD:DP:GQ:PL	0/1:36,34:70:99:876,0,1009	20	0	1	0
chr20	44258422	44258422	C	T	exonic	GDAP1L1	.	nonsynonymous SNV	GDAP1L1:NM_001256737:exon3:c.C419T:p.A140V,	.	.	420	1101	1	0	0	1	0.000453926	0	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.000798722	0.0005	0.0047	0	0.0029	0	0	0	0	0.0001423	22	154602	rs372238773	9.681e-05	0.0001	0.0001	8.292e-05	0.0033	8.342e-05	7.79e-05	0.0028	0.0026	0.0033	0.0002	0	0	0	0	4.644e-06	0.0003	1.266e-05	0.0009	0.0009	0.0009	0.0009	0.0032	0.0008	0.0007	0.0028	0.0026	0.0032	0	0.0002	0	0	0	0	0	0	0	.	.	.	0.558	0.09175	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.173	0.18512	.	.	.	.	.	.	.	0.0074842274	0.00170	T	.	.	.	.	.	.	.	0.329540904979	0.32555	0.2965728742624957	0.29570	.	.	0.550864338875	0.45979	T	.	.	.	-0.501558	0.00560	T	-0.496595	0.22701	T	.	.	.	0.266073	0.04370	T	.	.	.	.	.	.	.	.	-4.124	0.25643	T	.	.	0.092	0.13597	B	.	.	1.700264	0.21659	15.29	0.88808531602799734	0.18272	0.00931	0.03609	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.00296240864714853	0.09834	0.085967	0.02239	2	0.063388	0.01293	0	0.174137	0.04171	1	0.062806	0.01542	0	0.152869	0.27579	4.98	-3.82	0.04000	0.862000	0.27553	-0.652000	0.08023	-1.673000	0.00797	0.000000	0.06391	0.000000	0.08366	0.466000	0.28252	0.0:0.5725:0.0:0.4275	11.556	0.50004	530	0.73653	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	727.98	34	chr20	44258422	.	C	T	727.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e-02;DP=773;ExcessHet=0.0000;FS=0.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=-2.270e-01;SOR=0.824	GT:AD:DP:GQ:PL	0/1:41,30:71:99:742,0,1071	20	0	1	0
chr20	44406139	44406139	G	A	exonic	HNF4A	.	nonsynonymous SNV	HNF4A:NM_000457:exon2:c.G197A:p.R66Q	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	905806	Monogenic_diabetes|Maturity_onset_diabetes_mellitus_in_young|not_provided	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.895	L	-4.3	D	1.093	D	0.937	D	0.685	5.409	34	5.17	2.414	7.928	18.735	0.879	0.944980692852	.	0.000199681	2.479e-05	0	8.655e-05	0	0	0	0.0011	6.062e-05	2.59e-05	4	154602	rs561302824	2.395e-05	2.463e-05	1.362e-05	3.438e-05	0.0003	1.739e-05	1.539e-05	0.0002	0.0002	0	0	0	0	0	0	5.396e-06	3.313e-05	0.0003	6.565e-06	6.561e-06	1.285e-05	0	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.003	0.76473	D	0.999	0.90584	D	0.972	0.77976	D	0.000238	0.47286	D	0.179482	0.999999	0.81001	D	1.365	0.34158	L	-4.3	0.97172	D	-3.49	0.68178	D	0.694	0.70527	1.093	0.99361	D	0.937	0.97934	D	10	0.91567564	0.90928	D	0.944981	0.99615	D	0.879	0.96428	0.759	0.88811	0.949233291065	0.94869	0.8825320018872927	0.88221	2.66830213671	0.98481	0.829861462116	0.86541	D	0.36787	0.99074	T	0.130951	0.67453	D	0.224625	0.84405	D	0.836733818054199	0.49063	D	0.968203	0.88767	D	0.82653296	0.85663	0.70704275	0.82726	0.82653296	0.85665	0.70704275	0.82727	-13.431	0.92375	D	0.6685701204761059	0.74318	0.768	0.77367	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	6.614376	0.95486	35	0.99950005326567803	0.99938	0.93985	0.59767	D	AEFDBCI	0.959759	0.98024	D	0.796528212300067	0.85890	8.712809	0.778689173862747	0.88275	9.521488	0.999999999999816	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.17	5.17	0.70848	8.054000	0.89239	11.769000	0.95814	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.735	0.91714	386	0.83455	.;.;.;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;.;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1245.98	40	chr20	44406139	.	G	A	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=875;ExcessHet=0.0000;FS=3.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-5.190e-01;SOR=0.579	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1260,0,1058	20	0	1	0
chr20	47651122	47651122	A	0	exonic	NCOA3	.	.	.	.	.	356	888	231	20	27	298	0.132389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4251.95	38	chr20	47651122	.	A	G,*	4251.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=-1.168e+00;DP=1198;ExcessHet=0.6776;FS=2.493;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=1.98;SOR=0.529	GT:AD:DP:GQ:PL	0/1:64,61,0:125:99:1586,0,1821,1672,1984,4057	17	0	3	0
chr20	50738061	50738061	A	G	exonic	PARD6B	.	nonsynonymous SNV	PARD6B:NM_032521:exon2:c.A271G:p.I91V,	.	.	442	1070	9	1	0	11	0.0051139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.011	B	0.000	N	0.994	D	0.55	N	1.92	T	-1.075	T	0.019	T	0.094	0.028	4.162	5.02	1.108	2.528	11.890	0.047	.	0.0066	0.00439297	0.0062	0.0018	0.0020	0	0.0103	0.0088	0.0056	0.0031	0.0063583	983	154602	rs142921418	0.0082	0.0082	0.0083	0.0081	0.0094	0.0080	0.0080	0.0092	0.0092	0.0013	0.0021	0.0049	0	0.0100	0.0040	0.0094	0.0064	0.0032	0.0062	0.0061	0.0061	0.0062	0.0094	0.0058	0.0057	0.0088	0.0085	0.0013	0.0647	0.0033	0.0040	0	0.0086	0.0068	0.0094	0.0052	0.0037	0.587	0.05862	T	0.601	0.09425	T	0.0	0.02946	B	0.011	0.15521	B	0.000012	0.62929	N	0.110103	0.993702	0.42026	D	0.655	0.16177	N	1.92	0.23082	T	-0.39	0.13611	N	0.117	0.19190	-1.0753	0.08287	T	0.019	0.07986	T	10	0.0058921874	0.00132	T	.	.	.	0.047	0.12962	.	.	0.138757226776	0.13463	0.3899317708589102	0.38908	0.272749980587	0.29779	0.580203175545	0.50115	T	0.031695	0.22156	T	-0.604373	0.00137	T	-0.631521	0.10299	T	0.00658088937206584	0.00074	T	0.790321	0.43084	T	0.07281682	0.16227	0.06673828	0.13711	0.07281682	0.16227	0.06673828	0.13710	-0.823	0.35701	T	.	.	0.126	0.34383	B	.;.	.;.	2.435978	0.31345	18.71	0.73037053756398296	0.10184	0.81229	0.40677	D	AEFBCI	0.393482	0.47111	N	-0.347672708174574	0.27358	1.500341	-0.120459690892231	0.34567	1.989761	0.999996817449049	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.14	5.02	0.66742	2.524000	0.45250	5.452000	0.48648	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.9318:0.0:0.0682:0.0	11.890	0.51906	871	0.31377	PB1 domain|PB1 domain|PB1 domain|Partitioning defective protein 6, PB1 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	753.98	39	chr20	50738061	.	A	G	753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.744;DP=816;ExcessHet=0.0000;FS=2.941;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.02;ReadPosRankSum=-4.680e-01;SOR=1.127	GT:AD:DP:GQ:PL	0/1:60,34:94:99:768,0,1514	20	0	1	0
chr20	51516833	51516833	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223C:p.G408A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.68	T	0.381	D	0.611	D	0.933	4.885	28.0	5.25	2.455	7.813	18.871	0.869	0.202108400602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.732e-05	0.0017	0.0001	8.733e-05	0.0001	8.384e-05	7.919e-05	0.0001	9.607e-05	6.032e-05	0	3.84e-05	2.523e-05	0	0	0.0001	6.668e-05	2.326e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	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	2.9	0.83903	M	-0.68	0.72568	T	-5.56	0.86296	D	0.901	0.91505	0.381	0.88810	D	0.611	0.86246	D	10	0.8972913	0.89084	D	0.202108	0.86802	D	0.869	0.96059	0.673	0.81101	0.917666431197	0.91683	0.8047902846343375	0.80433	1.22105697637	0.81090	0.817002594471	0.84569	D	0.649316	0.89339	D	0.387933	0.89203	D	0.319463	0.89067	D	0.996825218200684	0.90159	D	0.999309	0.99724	D	0.9031787	0.91670	0.80110663	0.88338	0.9031787	0.91671	0.80110663	0.88339	-12.7	0.88324	D	.	.	0.999	0.99219	P	.;.;.;.;.;.	.;.;.;.;.;.	5.269992	0.88488	29.6	0.99874407340726401	0.95160	0.98728	0.86094	D	AEFDBHI	0.894554	0.83366	D	0.910105444057895	0.92245	11.31442	0.843453264125031	0.92626	11.53706	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	465.47	36	chr20	51516833	.	C	G,T	465.47	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=-2.239e+00;DP=1071;ExcessHet=0.3300;FS=333.363;InbreedingCoeff=-0.0909;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=2.02;ReadPosRankSum=0.064;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:61,3,15:79:99:.:.:160,167,1910,0,1757,1738	17	0	1	1
chr20	51516833	51516833	C	T	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223A:p.G408D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.7	T	0.381	D	0.611	D	0.957	5.041	29.8	5.25	2.455	7.813	18.871	0.893	0.262073555344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.882e-07	2.056e-06	0	1.383e-06	9.057e-07	0	0	.	.	0	0	0	0	0	0	9.057e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	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	2.9	0.83903	M	-0.7	0.72785	T	-6.5	0.91609	D	0.94	0.95608	0.381	0.88810	D	0.611	0.86246	D	10	0.9135088	0.90714	D	0.262074	0.89547	D	0.893	0.96947	0.711	0.84691	0.919610210409	0.91879	0.8600597117562743	0.85969	1.36751619527	0.84468	0.868866324425	0.92406	D	0.671936	0.90273	D	0.38892	0.89260	D	0.32088	0.89126	D	0.997196435928345	0.90986	D	0.999049	0.99552	D	0.9028719	0.91642	0.8530377	0.91708	0.9028719	0.91643	0.8530377	0.91709	-13.698	0.92426	D	.	.	1.000	0.99795	P	.;.;.;.;.;.	.;.;.;.;.;.	5.517230	0.91744	32	0.99867588980001254	0.94547	0.98253	0.80960	D	AEFDBHI	0.905011	0.85599	D	0.910254360952043	0.92253	11.31834	0.843558426454481	0.92633	11.54079	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	465.47	36	chr20	51516833	.	C	G,T	465.47	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=-2.239e+00;DP=1071;ExcessHet=0.3300;FS=333.363;InbreedingCoeff=-0.0909;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=2.02;ReadPosRankSum=0.064;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:61,3,15:79:99:.:.:160,167,1910,0,1757,1738	17	0	1	1
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.72	T	0.381	D	0.611	D	0.955	5.001	29.4	5.25	2.455	7.813	18.871	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3182	1110.73	33	chr20	51516834	.	C	G	1110.73	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.139e+00;DP=1283;ExcessHet=2.5830;FS=294.373;InbreedingCoeff=-0.4045;MLEAC=10;MLEAF=0.455;MQ=60.00;MQRankSum=0.00;QD=2.00;ReadPosRankSum=-4.600e-02;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,18:79:99:.:.:185,0,1735	4	0	7	10
chr20	62813277	62813277	A	0	exonic	OGFR	.	.	.	.	.	523	886	20	13	80	126	0.0253025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	2213.86	12	chr20	62813277	.	A	*,G	2213.86	.	AC=3,6;AF=0.079,0.158;AN=38;BaseQRankSum=-1.555e+00;DP=527;ExcessHet=0.1022;FS=5.579;InbreedingCoeff=0.2459;MLEAC=2,7;MLEAF=0.053,0.184;MQ=54.26;MQRankSum=0.052;QD=19.25;ReadPosRankSum=-3.440e-01;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:12,0,7:19:99:.:.:214,249,630,0,381,360	12	1	1	2
chr20	64211316	64211316	C	T	exonic	MYT1	.	nonsynonymous SNV	MYT1:NM_004535:exon8:c.C1402T:p.H468Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	-0.755	N	0.81	T	-0.518	T	0.155	T	0.814	3.809	19.34	4.71	2.298	7.662	18.045	0.479	0.0892521268977	.	.	0.0002	0	0	0	0	0	0	0.0018	0.0002005	31	154602	rs556404142	8.485e-05	8.482e-05	5.991e-05	0.0001	0.0013	7.211e-05	6.798e-05	0.0011	0.0010	0	0	0	0	0	0	0	0.0002	0.0013	6.568e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.016	0.53900	D	0.098	0.83351	T	0.999	0.90584	D	0.996	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.715	0.01801	N	0.81	0.55090	T	-5.25	0.84035	D	0.855	0.89242	-0.5183	0.67977	T	0.155	0.48670	T	10	0.21356282	0.37852	T	0.089252	0.75290	D	0.479	0.77012	0.462	0.53079	0.23798241625	0.23396	.	.	1.9046218175	0.92852	0.833943963051	0.87167	D	0.152315	0.96454	T	-0.165583	0.25905	T	-0.0296387	0.68392	D	0.227939558760363	0.21853	T	0.891911	0.88939	D	0.71498936	0.78883	0.5548905	0.74256	0.71498936	0.78884	0.5548905	0.74257	-14.428	0.94503	D	.	.	0.929	0.88480	P	.;.;.;.	.;.;.;.	5.076996	0.84710	28.4	0.9956207845734214	0.71831	0.98056	0.79226	D	AEFGBI	0.924658	0.90301	D	0.453256914264761	0.64388	4.692178	0.524209270899684	0.69622	5.386925	0.999999999996672	0.74766	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.71	4.71	0.59010	7.839000	0.85040	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.045	0.89254	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1543.98	37	chr20	64211316	.	C	T	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.099e+00;DP=819;ExcessHet=0.0000;FS=1.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-4.150e-01;SOR=0.918	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1558,0,1596	20	0	1	0
chr21	10602079	10602079	G	A	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon17:c.G964A:p.D322N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.982	D	0.001	D	1.000	N	2.595	M	-1.86	D	-0.155	T	0.684	D	0.666	1.337	10.39	1.35	0.508	0.891	4.818	0.487	0.000596350037285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.48963	.	.	.	.	.	.	.	0.27862158	0.45432	T	.	.	.	.	.	.	.	.	.	0.7661654524240642	0.76565	.	.	.	.	.	0.236856	0.60442	T	.	.	.	.	.	.	.	.	.	0.487251	0.14908	T	.	.	.	.	.	.	.	.	-4.805	0.35339	T	.	.	0.081	0.10883	B	.;.;.;.	.;.;.;.	1.650685	0.21061	15.03	.	.	.	.	.	.	0.033500	0.03990	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.309000	0.33145	0.968000	0.23038	-0.329000	0.05792	0.568000	0.27489	0.494000	0.25168	0.004000	0.06068	.	.	.	.	.	.;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	911.98	33	chr21	10602079	.	G	A	911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.322;DP=1216;ExcessHet=0.0000;FS=0.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=0.129;QD=1.83;ReadPosRankSum=-4.430e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/1:419,79:498:99:926,0,11128	20	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S,	.	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	1.0	D	0.937	D	.	.	1.000	N	1.445	L	1.66	T	-0.997	T	0.095	T	0.13	0.280	5.514	-0.732	-0.424	-1.528	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	80837.62	225	chr21	13610565	.	G	A	80837.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.08;DP=4336;ExcessHet=0.5132;FS=0.571;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=53.68;MQRankSum=-8.647e+00;QD=20.17;ReadPosRankSum=-1.350e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/1:152,154:306:99:3870,0,3781	6	6	9	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V,	.	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	P	-1.67	N	0.69	T	-1.046	T	0.001	T	0.1	-2.566	0.003	-2.58	-1.089	-2.921	5.628	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	59193.62	215	chr21	13610631	.	A	G	59193.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.130e-01;DP=3704;ExcessHet=0.5132;FS=4.353;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=48.41;MQRankSum=-1.386e+01;QD=17.52;ReadPosRankSum=0.974;SOR=1.008	GT:AD:DP:GQ:PL	0/1:150,109:259:99:2656,0,3894	6	6	9	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V,	.	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.053	B	0.007	B	.	.	1.000	N	1.335	L	2.51	T	-0.946	T	0.021	T	0.32	0.122	4.658	2.1	0.975	1.396	3.884	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	43117.62	207	chr21	13641414	.	A	G	43117.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.110e+00;DP=2761;ExcessHet=0.5132;FS=0.565;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=58.03;MQRankSum=-1.526e+00;QD=17.27;ReadPosRankSum=0.159;SOR=0.606	GT:AD:DP:GQ:PL	0/1:98,87:185:99:2016,0,2396	6	6	9	0
chr21	29042073	29042073	C	G	exonic	USP16	.	nonsynonymous SNV	USP16:NM_001001992:exon11:c.C1088G:p.T363S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.997	D	0.000	D	1.000	D	0.955	L	1.53	T	-0.980	T	0.136	T	0.26	4.109	21.2	5.12	2.668	4.946	18.763	0.165	0.0127488241123	.	.	2.524e-05	0	8.845e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs776708140	2.738e-06	2.736e-06	0	5.503e-06	4.64e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.64e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.36310	T	0.078	0.42436	T	0.98	0.60733	D	0.839	0.60107	P	0.000000	0.84330	D	0.048588	0.999991	0.81001	D	1.925	0.51371	L	1.53	0.30401	T	-3.23	0.65056	D	0.413	0.45898	-0.9804	0.34909	T	0.136	0.45145	T	10	0.49888223	0.61430	T	0.012749	0.31594	T	0.165	0.42395	0.396	0.42262	0.337378238328	0.33340	0.36532169287987665	0.36446	0.423011330703	0.42780	0.641618788242	0.58794	T	0.218704	0.58150	T	-0.26936	0.11828	T	-0.421094	0.30949	T	0.932539224624634	0.59865	D	0.887811	0.61653	D	0.35218808	0.57236	0.34341204	0.60053	0.35218808	0.57236	0.34341204	0.60052	-5.774	0.45639	T	.	.	0.207	0.43325	B	.;.;.	.;.;.	4.131654	0.61838	24.4	0.99618876215296437	0.75293	0.97779	0.77072	D	AEFBI	0.601799	0.59391	D	0.555346330868584	0.70409	5.497162	0.58516737349985	0.73877	6.042719	0.99999518068758	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.12	5.12	0.69459	5.009000	0.63753	7.639000	0.63104	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.763	0.91826	943	0.12886	.;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1578.98	34	chr21	29042073	.	C	G	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.411;DP=829;ExcessHet=0.0000;FS=2.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.839;SOR=0.988	GT:AD:DP:GQ:PL	0/1:57,64:121:99:1593,0,1322	20	0	1	0
chr21	29342679	29342679	G	A	exonic	BACH1	.	nonsynonymous SNV	BACH1:NM_001186:exon5:c.G2057A:p.G686E	.	.	424	1097	1	0	0	1	0.000455581	.	.	2395983	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.001	B	0.002	B	0.042	N	1.000	N	0.895	L	-0.59	T	-0.958	T	0.176	T	0.062	0.326	5.767	0.289	0.118	0.729	8.490	0.062	0.0386532302757	.	0.000199681	0.0001	0	8.675e-05	0	0	0.0002	0	0.0001	9.06e-05	14	154602	rs538792166	7.867e-05	7.867e-05	6.67e-05	9.075e-05	0.0016	6.666e-05	6.201e-05	0.0008	0.0006	5.974e-05	0.0002	0	0	0	0.0016	7.374e-05	0.0002	4.637e-05	0.0001	0.0001	0.0001	8.056e-05	0.0003	6.506e-05	5.319e-05	9.047e-05	7.012e-05	0	0	0.0003	0	0	0	0	0.0002	0.0005	0	0.131	0.26629	T	0.307	0.19908	T	0.001	0.07471	B	0.002	0.06944	B	0.042060	0.23883	N	0.388911	1	0.08975	N	1.7	0.43825	L	-0.59	0.71543	T	0.1	0.05810	N	0.015	0.00339	-0.9575	0.39644	T	0.176	0.52068	T	10	0.034733474	0.01693	T	0.038653	0.58353	D	0.062	0.17934	0.115	0.02372	0.640098834198	0.63713	0.37402064878483154	0.37316	0.118431318235	0.13333	0.287531048059	0.08563	T	0.029447	0.21097	T	-0.381082	0.03067	T	-0.510874	0.21226	T	0.0253217433933805	0.01315	T	0.411659	0.10685	T	0.03989837	0.05595	0.05935603	0.11125	0.03989837	0.05595	0.05935603	0.11125	-2.493	0.05734	T	.	.	0.073	0.06896	B	.;.	.;.	0.857738	0.12299	8.841	0.72732636536348605	0.10076	0.04303	0.09851	N	ALL	0.046939	0.07849	N	-0.927925278422129	0.10193	0.4859258	-0.958368303826247	0.10730	0.542265	0.99999999999997	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.693117	0.63056	0	0.654926	0.60358	0	.	.	5.12	0.289	0.14974	0.460000	0.21635	0.000000	0.13247	0.676000	0.76740	0.001000	0.13787	0.720000	0.26347	0.066000	0.16387	0.135:0.0:0.728:0.137	8.490	0.32258	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	831.98	33	chr21	29342679	.	G	A	831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=829;ExcessHet=0.0000;FS=2.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=-1.002e+00;SOR=0.655	GT:AD:DP:GQ:PL	0/1:56,32:88:99:846,0,1579	20	0	1	0
chr21	34370648	34370648	T	C	exonic	KCNE2	.	nonsynonymous SNV	KCNE2:NM_172201:exon2:c.T170C:p.I57T,	Atrial fibrillation, familial, 4;Long QT syndrome 6, Autosomal dominant	.	0	1494	28	0	0	28	0.00928382	.	.	21093	not_provided|Cardiac_arrhythmia|Long_QT_syndrome_6|Atrial_fibrillation,_familial,_4|Cardiovascular_phenotype|KCNE2-related_disorder	MedGen:C3661900|EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MONDO:MONDO:0013370,MedGen:C3150953,OMIM:613693,Orphanet:101016,Orphanet:768|MONDO:MONDO:0012677,MedGen:C1862394,OMIM:611493|MedGen:CN230736|MedGen:CN239320	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.918	D	0.000	D	0.999	D	1.5	L	-3.06	D	0.631	D	0.747	D	0.982	4.449	23.7	5.66	2.147	6.820	15.564	0.863	0.154582131025	0.0004	0.000798722	0.0009	0.0002	0.0010	0	0.0002	0.0011	0.0055	0.0009	0.0008603	133	154602	rs74315448	0.0007	0.0007	0.0006	0.0007	0.0146	0.0006	0.0006	0.0121	0.0111	0.0007	0.0019	0.0012	0	3.744e-05	0.0146	0.0005	0.0016	0.0011	0.0007	0.0007	0.0008	0.0006	0.0027	0.0006	0.0005	0.0020	0.0018	0.0002	0	0.0027	0.0012	0	9.413e-05	0.0238	0.0005	0.0038	0.0006	0.002	0.72154	D	0.008	0.67890	D	0.999	0.77913	D	0.918	0.65394	D	0.000018	0.62929	D	0.065041	0.999357	0.46766	A	2.43	0.70455	M	-3.06	0.92457	D	-3.39	0.66896	D	0.966	0.97643	0.631	0.92307	D	0.747	0.91369	D	10	0.32147172	0.49510	T	0.154582	0.83566	D	0.863	0.95839	.	.	0.958984558582	0.95854	0.8779840351295785	0.87765	0.569522344587	0.53130	0.822051405907	0.85343	D	0.898239	0.97984	D	0.125338	0.66905	D	0.400479	0.92130	D	0.0407778404361376	0.03832	T	0.831417	0.49863	T	0.56191885	0.70616	0.6588679	0.80018	0.5716259	0.71151	0.679703	0.81183	-3.971	0.23368	T	0.3489375475400014	0.44627	0.196	0.41798	B	.	.	4.601744	0.72891	25.9	0.99858453994482799	0.93729	0.96130	0.67670	D	AEFDGBIJ	0.746935	0.68915	D	0.659055776744708	0.76957	6.582887	0.666716435196437	0.79861	7.172661	0.999999999989957	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.66	5.66	0.87293	6.808000	0.74994	7.790000	0.68871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	15.564	0.76018	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	9568.98	33	chr21	34370648	.	T	C	9568.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=1574;ExcessHet=0.0000;FS=1.090;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=0.138;SOR=0.604	GT:AD:DP:GQ:PL	0/1:343,363:706:99:9583,0,8631	20	0	1	0
chr21	36246628	36246628	G	A	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon19:c.G4648A:p.D1550N	.	.	434	1084	4	0	0	4	0.00184162	.	.	3247711	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.999	D	0.000	D	1.000	D	2.535	M	0.76	T	-0.408	T	0.349	T	0.2	4.986	29.2	5.86	2.778	9.357	20.177	0.328	0.0276248879961	0.0002	.	0.0002	0	0.0003	0	0	0.0002	0	0.0006	0.0001811	28	154602	rs138558529	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0005	0	0.0003	3.826e-05	0	0	0.0010	0.0001	0.0002	0.0007	5.914e-05	5.91e-05	6.423e-05	5.381e-05	0.0008	3.077e-05	2.21e-05	0.0003	0.0002	0	0.0011	0	0	0	0	0	5.879e-05	0	0.0008	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.645	0.77386	M	0.76	0.49919	T	-3.74	0.71042	D	0.747	0.74644	-0.4079	0.71777	T	0.349	0.71344	T	10	0.62138194	0.67997	D	0.027625	0.50416	D	0.328	0.65026	.	.	0.689615988429	0.68695	0.5810519021200039	0.58034	0.714330807097	0.61881	0.676035404205	0.63701	T	0.234358	0.60137	T	-0.319984	0.06898	T	-0.336617	0.40726	T	0.240035337655121	0.22421	T	0.927207	0.73169	D	0.63442624	0.74534	0.66146135	0.80162	0.63442624	0.74535	0.66146135	0.80163	-8.048	0.61397	D	.	.	0.34	0.55909	A	.	.	4.942835	0.81587	27.6	0.99927489235890288	0.99163	0.97058	0.72445	D	AEFDGBCIJ	0.877617	0.80238	D	0.959064967703674	0.94338	12.68133	0.94117795124582	0.97130	15.63479	1.0	0.98316	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.86	5.86	0.93936	9.483000	0.96898	11.907000	0.99503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.177	0.98183	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2654.98	37	chr21	36246628	.	G	A	2654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.108;DP=1002;ExcessHet=0.0000;FS=1.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=0.065;SOR=0.613	GT:AD:DP:GQ:PL	0/1:112,111:223:99:2669,0,2702	20	0	1	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10995.83	42	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	A,*	10995.83	.	AC=12,6;AF=0.333,0.167;AN=36;BaseQRankSum=0.289;DP=1413;ExcessHet=0.4630;FS=5.341;InbreedingCoeff=0.1091;MLEAC=13,7;MLEAF=0.361,0.194;MQ=59.77;MQRankSum=-6.950e-01;QD=17.79;ReadPosRankSum=0.619;SOR=0.413	GT:AD:DP:GQ:PL	1/2:0,20,43:63:99:2238,1466,1509,816,0,1813	5	1	7	3
chr21	43690435	43690435	G	A	exonic	RRP1B	.	nonsynonymous SNV	RRP1B:NM_015056:exon14:c.G2014A:p.V672I,	.	.	416	1080	24	2	0	28	0.0127971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.672	P	0.041	B	0.517	N	1.000	N	1.39	L	5.35	T	-0.902	T	0.004	T	0.034	0.126	4.678	2.15	0.230	-0.519	4.223	0.069	0.00795754443368	0.0002	0.00159744	0.0015	9.638e-05	0.0005	0	0	0.0005	0.0033	0.0085	0.0012354	191	154602	rs142326213	0.0007	0.0007	0.0005	0.0009	0.0082	0.0007	0.0007	0.0077	0.0075	8.962e-05	0.0005	0.0013	5.038e-05	5.617e-05	0.0060	0.0002	0.0007	0.0082	0.0004	0.0004	0.0003	0.0005	0.0066	0.0003	0.0003	0.0048	0.0042	0.0001	0	0.0001	0.0003	0.0002	0.0002	0.0034	0.0003	0	0.0066	.	.	.	0.753	0.04754	T	0.672	0.41203	P	0.041	0.23986	B	0.516562	0.05178	N	1.270780	1	0.08975	N	1.59	0.40313	L	5.35	0.01058	T	-0.18	0.09796	N	0.045	0.01740	-0.9017	0.47814	T	0.004	0.01226	T	10	0.0057523847	0.00128	T	0.007958	0.21110	T	0.069	0.20116	.	.	0.265929055128	0.26215	0.06834235276416198	0.06772	0.279175888564	0.30399	0.305982500315	0.11300	T	0.012483	0.10966	T	-0.722659	0.00027	T	-0.804428	0.01794	T	0.00880056850071434	0.00109	T	0.29847	0.05558	T	0.04093284	0.05935	0.030841341	0.01592	0.04093284	0.05935	0.030841341	0.01592	-5.674	0.43461	T	.	.	0.077	0.06387	B	.	.	0.313189	0.06882	3.417	0.24843930670115211	0.01118	0.05291	0.11136	N	AEFDGBCI	0.038740	0.05526	N	-0.618019420490096	0.18404	0.9551687	-0.71542264073988	0.16576	0.8775833	0.999999830660732	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.01	2.15	0.26590	-0.375000	0.07532	-4.008000	0.02397	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.0847:0.3064:0.4624:0.1466	4.223	0.10021	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4316.11	39	chr21	43690435	.	G	A	4316.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.945;DP=1047;ExcessHet=0.1072;FS=4.203;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.614;SOR=0.516	GT:AD:DP:GQ:PL	0/1:88,88:176:99:2123,0,2226	19	0	2	0
chr21	44331928	44331928	C	T	exonic	CFAP410	.	nonsynonymous SNV	CFAP410:NM_001271440:exon5:c.G460A:p.G154S	.	.	378	1137	7	0	0	7	0.00306883	.	.	742684	not_provided|CFAP410-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.76	T	0.01	B	0.002	B	0.029	N	1.000	N	-0.145	N	1.76	T	-1.068	T	0.030	T	0.166	0.707	7.769	-1.3	-0.528	-0.031	1.183	0.009	0.00551238391852	7.7e-05	0.000599042	0.0010	0	0	0	0	0.0001	0.0024	0.0064	0.0007633	118	154602	rs377579876	0.0004	0.0004	0.0002	0.0006	0.0064	0.0004	0.0004	0.0059	0.0057	0.0001	0	0	0	0	0.0017	2.069e-05	0.0004	0.0064	0.0005	0.0005	0.0004	0.0006	0.0041	0.0004	0.0004	0.0027	0.0023	4.809e-05	0.0526	0	0	0.0002	0	0	2.939e-05	0	0.0041	0.427	0.09629	T	0.409	0.14588	T	0.001	0.07471	B	0.0	0.01387	B	0.029143	0.01697	N	2.109080	1	0.08975	N	.	.	.	1.73	0.32722	T	0.37	0.03761	N	0.071	0.04668	-1.0677	0.09926	T	0.030	0.12717	T	10	0.004271686	0.00086	T	0.005512	0.14197	T	0.009	0.00846	.	.	0.119812018005	0.11559	0.16648742747243706	0.16568	0.0657666337503	0.07340	.	.	.	0.003414	0.02819	T	-0.597115	0.00152	T	-0.627184	0.10628	T	0.00919018953730051	0.00116	T	0.366763	0.08556	T	0.037275612	0.04748	0.03296603	0.02115	0.02501678	0.01392	0.029821888	0.01364	-2.841	0.10159	T	0.09201288251395097	0.05900	0.075	0.05668	B	.;.;.	.;.;.	0.080231	0.04866	1.456	0.68493253382960051	0.08675	0.03540	0.08735	N	AEFDBHCI	0.051305	0.09051	N	-1.46776666855986	0.02081	0.09151854	-1.46274668924659	0.02657	0.1225782	0.999999803414918	0.74766	0.660377	0.49826	0	0.606735	0.50208	0	0.606735	0.37207	0	0.592323	0.36904	0	.	.	4.54	-1.3	0.08777	0.006000	0.13051	-0.108000	0.11862	-0.644000	0.04415	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.406:0.1502:0.2971:0.1467	1.183	0.01736	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	0	0	0.02381	990.98	34	chr21	44331928	.	C	T	990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.511e+00;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-7.480e-01;SOR=0.756	GT:AD:DP:GQ:PL	0/1:45,42:87:99:1005,0,1209	20	0	1	0
chr21	44558616	44558616	T	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	99920.15	123	chr21	44558616	.	T	G,*	99920.15	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=0.718;DP=2610;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.23;MQRankSum=-1.477e+00;QD=30.87;ReadPosRankSum=0.806;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,134,0:134:99:1|1:44558616_T_G:5976,403,0,5976,403,5976:44558616	0	17	3	0
chr21	44558620	44558620	G	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	97991.64	126	chr21	44558620	.	G	A,*	97991.64	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=1.53;DP=2612;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.24;MQRankSum=-8.900e-01;QD=32.40;ReadPosRankSum=0.868;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,133,0:133:99:1|1:44558616_T_G:5932,400,0,5932,400,5932:44558616	0	17	3	0
chr21	44592106	44592106	A	0	exonic	KRTAP10-6	.	.	.	.	.	444	939	103	35	1	174	0.0843491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	4312.68	36	chr21	44592106	.	A	G,*	4312.68	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=7.63;DP=2486;ExcessHet=0.9430;FS=27.882;InbreedingCoeff=0.0102;MLEAC=8,1;MLEAF=0.190,0.024;MQ=47.62;MQRankSum=-8.105e+00;QD=2.89;ReadPosRankSum=-1.139e+00;SOR=2.591	GT:AD:DP:GQ:PL	0/1:180,34,0:214:99:578,0,4455,1116,4557,5673	13	0	7	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	11119.76	311	chr21	44637708	.	TGTCTGCTGTGTGCCC	T,*	11119.76	.	AC=2,21;AF=0.050,0.525;AN=40;DP=7560;ExcessHet=2.9564;FS=0.000;InbreedingCoeff=-0.1019;MLEAC=2,22;MLEAF=0.050,0.550;MQ=59.91;QD=2.06;SOR=0.752	GT:AD:DP:GQ:PL	0/2:156,0,162:320:99:6150,6715,14285,0,7137,6594	3	1	0	1
chr21	46287125	46287125	-	A	splicing	YBEY	NM_001314026:exon2:c.210+2->A;NM_001006114:exon2:c.210+2->A;NM_001314022:exon2:c.210+2->A;NM_001314025:exon2:c.210+2->A;NM_058181:exon2:c.210+2->A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs530846715	0.0005	0.0032	0.0004	0.0005	0.0018	0.0004	0.0004	0.0014	0.0012	0.0018	0.0010	0.0006	0.0015	0.0004	0.0012	0.0003	0.0005	0.0012	0.0005	0.0005	0.0004	0.0005	0.0013	0.0004	0.0003	0.0010	0.0009	0.0012	0	6.661e-05	0	0.0008	0.0002	0	7.419e-05	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8455.27	32	chr21	46287125	.	T	TAAAAAA,TAAAAA,TA	8455.27	.	AC=7,7,1;AF=0.167,0.167,0.024;AN=42;BaseQRankSum=-1.320e+00;DP=957;ExcessHet=0.1361;FS=1.223;InbreedingCoeff=0.2741;MLEAC=7,7,1;MLEAF=0.167,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.35;ReadPosRankSum=-9.300e-02;SOR=0.767	GT:AD:DP:GQ:PL	0/1:29,9,8,0:46:29:488,0,1157,29,1027,1186,414,1209,1237,1577	10	0	3	0
chr22	17548817	17548817	G	A	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290046:exon17:c.G3038A:p.R1013H	.	.	426	1065	30	1	0	32	0.0148011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.996	D	0.000	D	0.803	D	1.725	L	1.58	T	-0.804	T	0.135	T	0.442	3.273	16.99	3.07	1.064	4.067	8.031	0.092	.	0.0007	0.00579073	0.0043	0.0003	0.0006	0.0002	0	0.0009	0.0022	0.0266	0.0036351	562	154602	rs200418423	0.0022	0.0022	0.0014	0.0029	0.0267	0.0021	0.0021	0.0258	0.0255	0.0002	0.0005	0.0047	2.519e-05	0	0.0085	0.0004	0.0029	0.0267	0.0014	0.0014	0.0010	0.0018	0.0256	0.0012	0.0012	0.0219	0.0205	0.0002	0	0.0008	0.0052	0.0002	0	0.0034	0.0007	0.0019	0.0256	0.0	0.91255	D	0.007	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.000123	0.49741	D	0.000000	0.802596	0.34531	D	2.485	0.72352	M	1.58	0.29085	T	-1.73	0.41046	N	0.455	0.49237	-0.8044	0.54885	T	0.135	0.45029	T	10	0.0065469146	0.00148	T	.	.	.	0.092	0.26621	.	.	0.522664700966	0.51911	0.3080170032615043	0.30714	.	.	0.470560133457	0.34757	T	0.097323	0.40003	T	-0.400013	0.02315	T	-0.326418	0.41865	T	0.0489526375774208	0.05315	T	0.957304	0.83911	D	0.07036674	0.15493	0.07400179	0.16143	0.07036674	0.15493	0.07400179	0.16143	-2.476	0.05620	T	.	.	0.079	0.10159	B	.;.;.;.	.;.;.;.	3.736716	0.53487	23.4	0.99944137029088442	0.99868	0.89588	0.50148	D	AEFDBI	0.311219	0.41702	N	0.457077275495663	0.64607	4.718927	0.386242642175001	0.60714	4.262352	0.356995313021246	0.19739	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.11	3.07	0.34476	3.345000	0.51899	6.595000	0.56038	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.446000	0.27806	0.0856:0.1618:0.7527:0.0	8.031	0.29624	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	8518.11	307	chr22	17548817	.	G	A	8518.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.15;DP=1461;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=1.24;SOR=0.694	GT:AD:DP:GQ:PL	0/1:159,199:358:99:4858,0,3723	19	0	2	0
chr22	17588025	17588025	G	A	exonic	SLC25A18	.	nonsynonymous SNV	SLC25A18:NM_001303484:exon8:c.G676A:p.V226M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.025	B	0.027	B	0.840	N	1.000	N	1.29	L	-1.33	T	-0.895	T	0.267	T	0.231	0.482	6.618	-5.73	-1.094	-1.209	1.522	0.130	0.010170895584	7.7e-05	.	0.0001	9.61e-05	8.639e-05	0	0	4.495e-05	0	0.0006	0.0001035	16	154602	rs371516757	5.746e-05	5.746e-05	3.131e-05	8.388e-05	0.0008	4.743e-05	4.366e-05	0.0006	0.0006	0.0002	0	0	5.038e-05	0	0.0002	4.496e-06	1.656e-05	0.0008	0.0001	0.0001	8.994e-05	0.0001	0.0012	6.513e-05	5.324e-05	0.0005	0.0004	0.0002	0	0	0	0.0002	0	0	2.94e-05	0	0.0012	0.109	0.29288	T	0.151	0.32355	T	0.025	0.19245	B	0.027	0.21085	B	0.839628	0.06991	N	1.078840	1	0.08975	N	1.27	0.32069	L	-1.33	0.79854	T	-0.78	0.21644	N	0.186	0.22870	-0.8952	0.48465	T	0.267	0.63791	T	10	0.031377405	0.01271	T	0.010171	0.26390	T	0.130	0.35528	.	.	0.337868961071	0.33390	0.48480206602974163	0.48400	0.202693740654	0.22690	0.284728050232	0.08161	T	0.118728	0.43975	T	-0.368153	0.03688	T	-0.405808	0.32710	T	0.00631482080656587	0.00070	T	0.877412	0.59112	D	0.02996821	0.02580	0.05034871	0.07882	0.02996821	0.02579	0.05034871	0.07882	-5.333	0.40268	T	.	.	0.081	0.08176	B	.;.	.;.	-0.877347	0.00964	0.038	0.90552087030780415	0.19807	0.03655	0.08911	N	AEFBI	0.211494	0.33727	N	-1.35374587861508	0.03087	0.13732	-1.45836763682679	0.02695	0.1244413	0.632146964077484	0.21977	0.660377	0.49826	0	0.547309	0.14657	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	4.83	-5.73	0.02204	-1.680000	0.02040	-3.351000	0.02854	-0.697000	0.04075	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3454:0.2261:0.3137:0.1149	1.522	0.02365	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1775.98	40	chr22	17588025	.	G	A	1775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.224e+00;DP=875;ExcessHet=0.0000;FS=3.650;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-3.390e-01;SOR=0.444	GT:AD:DP:GQ:PL	0/1:82,82:164:99:1790,0,1856	20	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R	.	.	0	170	630	722	0	2074	0.859155	.	.	1159081	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.094	N	0.999	P	.	.	-0.92	T	-0.991	T	0.000	T	0.068	-1.216	0.065	2.88	0.250	3.683	6.438	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.6905	64105.31	193	chr22	18925165	.	A	G	64105.31	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.553e+00;DP=3080;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.574;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:98,78:176:99:.:.:1795,0,2558	3	11	7	0
chr22	20566529	20566529	-	CAG	exonic	MED15	.	nonframeshift insertion	MED15:NM_001293236:exon6:c.540_541insCAG:p.Q191_A192insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4877.26	33	chr22	20566526	.	ACAG	ACAGCAG,A	4877.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-6.180e-01;DP=1022;ExcessHet=1.7912;FS=8.693;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-1.950e-01;SOR=0.415	GT:AD:DP:GQ:PL	0/2:44,0,5:49:71:71,203,1881,0,1678,1663	15	0	5	0
chr22	21962480	21962480	C	T	exonic	TOP3B	.	nonsynonymous SNV	TOP3B:NM_001282112:exon13:c.G1474A:p.D492N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.929	D	0.000	D	1.000	D	1.69	L	1.97	T	-1.017	T	0.119	T	0.192	4.392	23.2	5.12	2.368	5.693	18.560	0.232	0.0168176085784	7.7e-05	.	4.971e-05	0.0002	0	0	0	0	0	0.0002	3.88e-05	6	154602	rs139678669	3.079e-05	3.147e-05	2.587e-05	3.576e-05	0.0001	2.348e-05	2.095e-05	5.395e-05	4.042e-05	5.974e-05	0	0	2.519e-05	0	0	2.788e-05	3.312e-05	0.0001	7.222e-05	7.218e-05	5.14e-05	9.396e-05	9.62e-05	3.968e-05	3.125e-05	3.242e-05	1.91e-05	9.62e-05	0	6.534e-05	0	0	0	0	7.351e-05	0.0005	0	0.067	0.35918	T	0.222	0.25748	T	0.999	0.77913	D	0.929	0.66367	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.685	0.43254	L	1.97	0.22067	T	-3.72	0.70793	D	0.715	0.71854	-1.0174	0.24560	T	0.119	0.41604	T	10	0.785005	0.78171	D	0.016818	0.38254	T	0.232	0.53354	.	.	0.764601811582	0.76245	0.6864675046414583	0.68586	0.619345605956	0.56287	0.782431066036	0.79295	T	0.189051	0.54316	T	-0.336861	0.05609	T	-0.484985	0.23917	T	0.239473159368361	0.22395	T	0.940906	0.77861	D	0.61317044	0.73398	0.35776076	0.61265	0.61317044	0.73399	0.35776076	0.61264	-9.466	0.70647	D	.	.	0.163	0.36012	B	.;.	.;.	4.377929	0.67463	25.1	0.99888738592570692	0.96359	0.93630	0.58745	D	AEFDBCI	0.665521	0.63431	D	0.561717374471421	0.70798	5.554813	0.525867796676204	0.69737	5.403184	0.999999999999988	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	5.772000	0.68543	.	.	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.293000	0.24333	0.0:1.0:0.0:0.0	18.560	0.91051	695	0.58372	DNA topoisomerase, type IA, central|DNA topoisomerase, type IA, DNA-binding domain|DNA topoisomerase, type IA, central;DNA topoisomerase, type IA, central|DNA topoisomerase, type IA, DNA-binding domain|DNA topoisomerase, type IA, central	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1944.98	34	chr22	21962480	.	C	T	1944.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e+00;DP=867;ExcessHet=0.0000;FS=0.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.963;SOR=0.634	GT:AD:DP:GQ:PL	0/1:71,84:155:99:1959,0,1644	20	0	1	0
chr22	24523618	24523618	G	A	splicing	UPB1	NM_016327:exon9:c.917-1G>A	.	.	Beta-ureidopropionase deficiency, Autosomal recessive	YES	0	1513	9	0	0	9	0.0029654	0.9999	0.94	439218	UPB1-related_disorder|Deficiency_of_beta-ureidopropionase|Inborn_genetic_diseases|not_provided	.|MONDO:MONDO:0013164,MedGen:C1291512,OMIM:613161,Orphanet:65287|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.141	13.12	5.54	2.606	9.583	18.468	.	.	0.0022	0.000399361	0.0019	0.0006	0.0004	0	0.0012	0.0029	0.0022	0.0011	0.0017658	273	154602	rs143493067	0.0019	0.0019	0.0019	0.0019	0.0022	0.0019	0.0018	0.0021	0.0021	0.0003	0.0006	0.0037	0	0.0021	0.0012	0.0022	0.0014	0.0008	0.0016	0.0017	0.0018	0.0015	0.0029	0.0015	0.0014	0.0026	0.0024	0.0004	0	0.0005	0.0049	0	0.0007	0	0.0029	0.0014	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303191	0.83221	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.163252	0.94702	34	0.99179398220485526	0.54643	0.99703	0.98807	D	AEFBI	.	.	.	1.10783014298156	0.98277	17.85154	0.918486039870524	0.96329	14.56562	0.999999999999898	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.060301	0.00762	0	0.041896	0.00087	0	0.980806	0.86204	5.54	5.54	0.82907	9.745000	0.98071	11.596000	0.93440	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.119000	0.19126	0.0:0.0:1.0:0.0	18.468	0.90711	495	0.76383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1941.98	34	chr22	24523618	.	G	A	1941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.296;DP=862;ExcessHet=0.0000;FS=2.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.106;SOR=0.941	GT:AD:DP:GQ:PL	0/1:85,77:162:99:1956,0,2132	20	0	1	0
chr22	25205316	25205316	C	T	exonic	CRYBB3	.	nonsynonymous SNV	CRYBB3:NM_004076:exon5:c.C424T:p.H142Y,	Cataract 22, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.003	B	0.032	B	0.000	D	1.000	D	0.33	N	-0.84	T	-0.821	T	0.217	T	0.447	1.692	11.62	5.2	2.423	4.198	17.303	0.178	0.0384985558967	7.7e-05	.	4.135e-05	0.0003	0	0	0	1.503e-05	0	6.101e-05	3.88e-05	6	154602	rs367987690	1.231e-05	1.231e-05	6.806e-06	1.788e-05	0.0001	7.7e-06	6.35e-06	6.246e-05	4.757e-05	2.987e-05	0	0	0	0	0	4.496e-06	3.312e-05	0.0001	1.972e-05	1.97e-05	2.57e-05	1.346e-05	7.246e-05	5.24e-06	2.45e-06	1.921e-05	1.032e-05	7.246e-05	0	0	0	0	0	0	0	0	0	0.712	0.04020	T	0.977	0.02440	T	0.003	0.11197	B	0.032	0.22131	B	0.000071	0.52346	D	0.166816	0.999979	0.81001	D	0.31	0.10265	N	-0.84	0.74265	T	-1.61	0.38734	N	0.486	0.52029	-0.8213	0.53852	T	0.217	0.57889	T	10	0.22823018	0.39722	T	0.038499	0.58257	D	0.178	0.44724	.	.	0.747191721737	0.74491	0.5724628390700662	0.57174	0.186666295219	0.20973	0.692737162113	0.66099	T	0.027877	0.20317	T	-0.20379	0.20259	T	-0.251072	0.49712	T	0.117280386388302	0.14161	T	0.835916	0.50694	T	0.6575739	0.75769	0.45411414	0.68257	0.6575739	0.75770	0.45411414	0.68257	-2.384	0.05035	T	0.0774174358338645	0.03625	0.109	0.20663	B	.	.	2.787704	0.36639	20.3	0.97376031086558335	0.33647	0.91429	0.53515	D	AEFDI	0.514565	0.54188	D	-0.23924542900263	0.31536	1.769223	-0.0210156757449827	0.38766	2.288766	0.991230435931694	0.32418	0.614807	0.35715	0	0.573888	0.26702	0	0.616094	0.41390	0	0.491896	0.07777	0	.	.	5.2	5.2	0.71720	4.284000	0.58776	1.326000	0.25636	0.596000	0.33519	1.000000	0.71638	0.736000	0.26449	0.998000	0.85391	0.0:1.0:0.0:0.0	17.303	0.87074	964	0.07719	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1741.98	39	chr22	25205316	.	C	T	1741.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.623e+00;DP=1008;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.17;ReadPosRankSum=-7.320e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/1:112,78:190:99:1756,0,2889	20	0	1	0
chr22	27983494	27983494	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6173C:p.G2058A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.996	D	0.001	D	1.000	D	1.1	L	-3.55	D	0.873	D	0.854	D	0.534	3.865	19.64	4.62	2.497	5.622	17.344	0.409	0.092232836446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.158e-06	1.3e-05	4.259e-06	0	2.79e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.79e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.382	0.15890	T	0.999	0.77913	D	0.996	0.84481	D	0.000562	0.43250	D	0.231958	0.999998	0.58761	D	2.005	0.54552	M	-3.55	0.94834	D	-1.3	0.32590	N	0.603	0.62103	0.873	0.95310	D	0.854	0.95149	D	10	0.3825744	0.54304	T	0.092233	0.75853	D	0.409	0.72099	0.19	0.10039	0.813956147583	0.81220	0.39497344297316855	0.39412	.	.	0.577225387096	0.49695	T	0.029009	0.20885	T	0.212969	0.75111	D	0.0681383	0.74787	D	0.896070539951324	0.54772	D	0.984702	0.94722	D	0.313312	0.54071	0.39437744	0.64133	0.313312	0.54071	0.39437744	0.64133	-2.954	0.09694	T	.	.	0.597	0.68768	P	.;.	.;.	4.504296	0.70476	25.5	0.99803016321568272	0.88728	0.97027	0.72267	D	AEFDBI	0.627685	0.61005	D	0.584171606304849	0.72186	5.766284	0.570052008804894	0.72802	5.867747	0.999999815894828	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	5.680000	0.67831	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.344	0.87192	958	0.09170	.;.	.	.	.	.	.	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	0.2333	768.61	106	chr22	27983494	.	C	G	768.61	.	AC=7;AF=0.233;AN=30;BaseQRankSum=-3.655e+00;DP=1981;ExcessHet=2.5830;FS=182.420;InbreedingCoeff=-0.3157;MLEAC=9;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=1.25;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,16:132:99:0|1:27983493_C_G:275,0,3867:27983493	8	0	7	6
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.001	N	1.000	D	1.1	L	-3.6	D	0.805	D	0.837	D	0.769	4.020	20.6	3.6	1.253	7.418	12.290	0.600	0.158398177192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	N	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.6	0.95009	D	-2.8	0.59226	D	0.789	0.78546	0.805	0.94474	D	0.837	0.94553	D	10	0.61998546	0.67922	D	0.158398	0.83880	D	0.600	0.84183	0.239	0.17065	0.750618531641	0.74836	0.5121720383386701	0.51139	.	.	0.657954216003	0.61117	T	0.095784	0.39692	T	0.353062	0.86712	D	0.269372	0.86538	D	0.99226039648056	0.82702	D	0.987934	0.95926	D	0.3778262	0.59159	0.5174505	0.72120	0.3778262	0.59159	0.5174505	0.72120	-4.333	0.28637	T	.	.	0.962	0.88285	P	.;.	.;.	4.774876	0.77330	26.7	0.9991599844056599	0.98379	0.99519	0.96998	D	AEFDBI	0.922723	0.89811	D	0.528874973212774	0.68806	5.26799	0.494853380951096	0.67649	5.112284	0.99999983332082	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	3.6	0.40374	7.481000	0.80171	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9161:0.0:0.0839	12.290	0.54132	958	0.09170	.;.	.	.	.	.	.	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	0.4375	796.84	106	chr22	27983495	.	C	G	796.84	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-2.082e+00;DP=1886;ExcessHet=2.5830;FS=182.420;InbreedingCoeff=-0.4724;MLEAC=12;MLEAF=0.750;MQ=60.00;MQRankSum=0.00;QD=1.07;ReadPosRankSum=1.34;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,16:132:99:.:.:275,0,3867	1	0	7	13
chr22	30538899	30538899	G	A	exonic	SEC14L6	.	nonsynonymous SNV	SEC14L6:NM_001193336:exon2:c.C58T:p.R20W,	.	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	D	3.485	M	-2.33	D	0.314	D	0.699	D	0.398	3.282	17.02	0.844	-0.080	2.330	6.911	0.421	.	.	0.00279553	0.0073	0.0010	0.0021	0	0.0252	0.0062	0.0081	0.0078	0.0002305	6	26028	rs9608973	0.0051	0.0051	0.0050	0.0052	0.0211	0.0050	0.0050	0.0180	0.0169	0.0007	0.0025	0.0053	8.366e-05	0.0206	0.0211	0.0045	0.0050	0.0077	0.0049	0.0049	0.0043	0.0055	0.0060	0.0046	0.0045	0.0052	0.0050	0.0010	0	0.0022	0.0060	0.0002	0.0212	0.0170	0.0056	0.0038	0.0060	0.0	0.91255	D	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	0.99669	0.43358	D	4.245	0.98026	H	-2.33	0.87910	D	-5.68	0.87223	D	0.342	0.38335	0.314	0.87775	D	0.699	0.89624	D	7	0.008291423	0.00188	T	.	.	.	0.421	0.73005	.	.	0.914993449436	0.91413	0.8568166193691308	0.85644	0.0275583687716	0.02819	0.291940420866	0.09204	T	0.340345	0.70938	T	-0.214602	0.18737	T	-0.0730754	0.65406	T	0.129227198938751	0.15310	T	0.915608	0.69895	D	0.11142177	0.26330	0.13525529	0.32390	0.11142177	0.26330	0.13525529	0.32389	-11.409	0.81853	D	.	.	0.179	0.39029	B	.	.	2.048454	0.26042	16.98	0.99846715317920354	0.92663	0.74829	0.36616	D	AEFDBI	0.328558	0.42918	N	-0.127875198169098	0.36181	2.08796	-0.331579613762432	0.27085	1.500486	0.298767655284456	0.19166	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.33	0.844	0.18083	2.404000	0.44192	-0.340000	0.09823	0.618000	0.50648	0.929000	0.32243	0.000000	0.08366	0.007000	0.07825	0.1088:0.0:0.725:0.1662	6.911	0.23515	340	0.86005	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4259.68	91	chr22	30538899	.	G	A	4259.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.590e-01;DP=1745;ExcessHet=0.3300;FS=0.845;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.688;SOR=0.622	GT:AD:DP:GQ:PL	0/1:57,65:122:99:1610,0,2188	18	0	3	0
chr22	32224400	32224400	C	T	exonic	SLC5A4	.	nonsynonymous SNV	SLC5A4:NM_014227:exon13:c.G1532A:p.C511Y,	.	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.525	H	-0.08	T	0.158	D	0.513	D	0.985	1.862	12.18	3.85	1.273	7.470	10.889	0.619	0.0301074895197	.	0.000399361	0.0002	0	0	0	0	1.506e-05	0.0045	0.0009	0.0001423	22	154602	rs370978314	0.0001	0.0001	7.626e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	0	1.873e-05	0.0009	1.799e-05	0.0001	0.0018	7.224e-05	7.218e-05	7.71e-05	6.715e-05	0.0008	3.969e-05	3.126e-05	0.0003	0.0002	0	0	0	0	0	0.0002	0	5.88e-05	0.0005	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.865	0.95877	H	-0.08	0.63911	T	-10.49	0.99052	D	0.975	0.98563	0.158	0.85196	D	0.513	0.81729	D	10	0.8695377	0.86213	D	0.030107	0.52487	D	0.619	0.85196	0.838	0.94479	0.793244452484	0.79132	0.811987578086241	0.81154	0.858024298663	0.68841	0.680139780045	0.64288	T	0.241144	0.60962	T	0.0694526	0.60783	D	0.30236	0.88306	D	0.546501338481903	0.34346	D	0.926707	0.72990	D	0.93585163	0.94826	0.8286818	0.90100	0.93585163	0.94826	0.8286818	0.90100	-12.672	0.87967	D	.	.	0.870	0.80861	P	.	.	4.132097	0.61838	24.4	0.90920817515698849	0.20169	0.97544	0.75443	D	AEFBI	0.906354	0.85903	D	0.373711710504068	0.60000	4.184556	0.165589027191998	0.47975	3.019761	0.852016894688889	0.25062	0.638212	0.43195	0	0.59043	0.45803	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	4.86	3.85	0.43556	7.723000	0.83751	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.188000	0.21541	0.0:0.9085:0.0:0.0915	10.889	0.46190	265	0.89590	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1371.98	46	chr22	32224400	.	C	T	1371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.520e-01;DP=924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=1.34;SOR=0.681	GT:AD:DP:GQ:PL	0/1:66,58:124:99:1386,0,1638	20	0	1	0
chr22	36316560	36316560	G	C	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon12:c.C1337G:p.S446C,	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.839	P	0.211	B	0.000	D	1.000	D	2.625	M	-2.36	D	0.426	D	0.660	D	0.853	4.564	24.7	5.1	2.538	9.869	18.547	0.692	0.324217944934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	8.688e-05	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.113	0.36901	T	0.839	0.46454	P	0.211	0.37346	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	-2.36	0.88143	D	-4.71	0.79915	D	0.878	0.87590	0.426	0.89483	D	0.660	0.88197	D	10	0.9259001	0.91938	D	0.324218	0.91564	D	0.692	0.88820	0.645	0.78224	0.961098647398	0.96068	0.8395035233604805	0.83910	2.00279492732	0.93841	0.889070630074	0.95144	D	0.822647	0.95680	D	0.384396	0.88989	D	0.314382	0.88851	D	0.996383428573608	0.89236	D	0.944506	0.78979	D	0.92190284	0.93432	0.7688183	0.86348	0.92190284	0.93433	0.7688183	0.86349	-11.156	0.80506	D	0.8877937243935591	0.94347	0.351	0.56631	A	.	.	4.590653	0.72606	25.9	0.99319532239500308	0.59317	0.97062	0.72468	D	AEFBHCI	0.962230	0.98376	D	0.558250758971841	0.70586	5.523309	0.579599439697102	0.73481	5.977167	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.1	5.1	0.68917	10.003000	0.99689	7.593000	0.61311	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:0.0:1.0:0.0	18.547	0.91003	492	0.76569	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	1924.07	73	chr22	36316560	.	G	C	1924.07	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.731e+00;DP=1544;ExcessHet=1.7912;FS=261.121;InbreedingCoeff=-0.1672;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=1.93;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,21:91:99:0|1:36316559_G_T:219,0,2558:36316559	15	0	6	0
chr22	36504640	36504640	G	C	exonic	FOXRED2	.	nonsynonymous SNV	FOXRED2:NM_001102371:exon3:c.C654G:p.I218M	.	.	.	.	.	.	.	.	.	.	.	3250766	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.4	M	1.38	T	-0.699	T	0.209	T	0.695	3.450	17.68	4.7	1.419	4.025	9.144	0.341	0.0353998290457	.	.	1.65e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs373581384	7.525e-06	7.524e-06	6.806e-06	8.25e-06	0.0001	4.04e-06	2.95e-06	5.395e-05	4.042e-05	0	0	0	0	0	0	0	3.311e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999903	0.50806	D	3.405	0.91733	M	1.38	0.34050	T	-2.86	0.60188	D	0.842	0.86404	-0.6994	0.60467	T	0.209	0.56839	T	10	0.8152267	0.80768	D	0.035	0.56317	D	0.341	0.66297	0.685	0.82271	0.52468985305	0.52114	0.8568864522848941	0.85651	1.75915494578	0.91099	0.699204266071	0.67029	T	0.128952	0.45692	T	-0.0588678	0.43086	T	-0.119682	0.61830	T	0.981242537498474	0.73802	D	0.930207	0.74183	D	0.6713132	0.76503	0.4871106	0.70318	0.6713132	0.76504	0.4871106	0.70318	-9.625	0.71634	D	.	.	0.578	0.67973	P	.;.;.	.;.;.	3.935247	0.57545	23.9	0.99703288963442249	0.80798	0.97290	0.73825	D	AEFDBI	0.579961	0.58056	D	0.671328642898546	0.77755	6.736002	0.625317097632616	0.76784	6.555155	0.999999167783128	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.71	4.7	0.58776	4.111000	0.57577	4.080000	0.41731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2167:0.0:0.7833:0.0	9.144	0.36081	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2458.98	41	chr22	36504640	.	G	C	2458.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=1193;ExcessHet=0.0000;FS=4.196;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=3.56;SOR=0.983	GT:AD:DP:GQ:PL	0/1:93,95:188:99:2473,0,2308	20	0	1	0
chr22	37002111	37002111	G	A	exonic	TEX33	.	nonsynonymous SNV	TEX33:NM_001163857:exon3:c.C215T:p.P72L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.358	B	0.051	B	0.094	N	1.000	N	1.355	L	.	.	-1.064	T	0.071	T	0.11	2.786	15.28	-11.3	-2.134	-1.978	11.405	0.071	0.00381259216298	.	.	3.658e-05	0	0	0	0	7.278e-05	0	0	3.84e-05	1	26028	rs755846995	3.324e-05	3.489e-05	1.539e-05	5.149e-05	0.0004	2.561e-05	2.295e-05	0.0003	0.0003	0	0	0	0	0	0.0002	9.198e-06	0	0.0004	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	0	0	1.47e-05	0	0.0002	0.125	0.27310	T	0.135	0.34124	T	0.358	0.33818	B	0.051	0.25434	B	0.093534	0.02478	N	1.981510	1	0.08975	N	1.65	0.42232	L	.	.	.	-3.36	0.66549	D	0.281	0.31814	-1.0640	0.10784	T	0.071	0.29001	T	9	0.06597665	0.08980	T	0.003813	0.08899	T	0.071	0.20720	0.096	0.01287	0.0138822411134	0.00435	0.07079285326276982	0.07016	0.191457487141	0.21472	0.2495842278	0.03724	T	0.038402	0.24828	T	-0.494255	0.00616	T	-0.663026	0.08063	T	0.0712509518025063	0.08825	T	0.433757	0.11839	T	0.032406062	0.03259	0.05007463	0.07785	0.032406062	0.03258	0.05007463	0.07785	-4.217	0.26997	T	.	.	0.074	0.05231	B	.;.	.;.	-1.090489	0.00652	0.018	0.87360531043218315	0.17171	0.01370	0.04678	N	AEFDBI	0.041671	0.06366	N	-1.55437755188258	0.01509	0.06590014	-1.74083273180912	0.00968	0.04337123	0.99997933156093	0.50053	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.67	-11.3	0.00084	-1.768000	0.01892	-3.048000	0.03108	-1.893000	0.00531	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1657:0.5584:0.2758	11.405	0.49133	958	0.09170	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2313.98	33	chr22	37002111	.	G	A	2313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=954;ExcessHet=0.0000;FS=0.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=0.041;SOR=0.791	GT:AD:DP:GQ:PL	0/1:76,84:160:99:2328,0,1989	20	0	1	0
chr22	37182540	37182540	G	A	exonic	C1QTNF6	.	nonsynonymous SNV	C1QTNF6:NM_031910:exon3:c.C485T:p.T162M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.991	D	0.871	P	0.099	N	0.998	N	2.44	M	1.84	T	-0.427	T	0.497	T	0.117	1.989	12.61	4.12	1.178	5.795	9.81	0.199	0.0391997635784	.	0.000199681	9.09e-05	0	0	0	0	6.014e-05	0	0.0004	0.0001035	16	154602	rs528699550	9.303e-05	9.303e-05	7.351e-05	0.0001	0.0005	8.025e-05	7.518e-05	0.0004	0.0003	0	2.236e-05	3.826e-05	2.519e-05	0	0	8.004e-05	1.656e-05	0.0005	6.562e-05	6.561e-05	7.705e-05	5.368e-05	0.0004	3.512e-05	2.613e-05	7.282e-05	3.339e-05	0	0	6.531e-05	0	0	0	0	0.0001	0	0.0004	0.078	0.33923	T	0.065	0.44702	T	.	.	.	.	.	.	0.099103	0.19949	N	0.535457	0.998656	0.22513	N	.	.	.	1.84	0.24656	T	-2.41	0.52938	N	0.099	0.08088	-0.4268	0.71170	T	0.497	0.80951	T	10	0.13401908	0.25505	T	0.039	0.58670	D	0.199	0.48268	.	.	0.518199804421	0.51461	0.25343470944618324	0.25257	0.663015556434	0.59004	0.288943350315	0.08768	T	.	.	.	-0.415231	0.01836	T	-0.533903	0.18899	T	0.406121701002121	0.29172	T	0.734827	0.35112	T	0.05271134	0.09870	0.099288106	0.23701	0.05271134	0.09870	0.099288106	0.23700	-7.672	0.58813	D	.	.	0.099	0.16886	B	.;.	.;.	3.849565	0.55755	23.6	0.99579000995987543	0.72861	0.93389	0.58086	D	AEFDBI	0.539416	0.55640	D	0.268378549014206	0.54553	3.620616	0.184165073608386	0.48979	3.10681	0.998272750205199	0.36679	0.656854	0.48797	0	0.633656	0.55848	0	0.67347	0.61138	0	0.683762	0.67416	0	.	.	5.14	4.12	0.47504	5.899000	0.69584	7.606000	0.61733	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.363000	0.25954	0.0816:0.1424:0.7759:0.0	9.81	0.39985	946	0.12043	C1q domain|C1q domain|C1q domain|C1q domain;C1q domain|C1q domain|C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2932.98	33	chr22	37182540	.	G	A	2932.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.92;DP=1377;ExcessHet=0.0000;FS=1.061;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=0.718;SOR=0.637	GT:AD:DP:GQ:PL	0/1:100,111:211:99:2947,0,2240	20	0	1	0
chr22	37734879	37734879	C	T	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon9:c.C4543T:p.P1515S,	Deafness, autosomal recessive 28, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.013	B	0.005	B	.	.	1.000	N	0	N	1.79	T	-1.000	T	0.025	T	0.103	1.982	12.58	-1.2	-0.118	-0.099	3.203	0.015	0.00268867332216	.	0.000199681	9.5e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs543930307	2.807e-05	2.805e-05	1.498e-05	4.128e-05	0.0004	2.088e-05	1.879e-05	0.0003	0.0003	0	0	0	0	0	0	5.396e-06	0	0.0004	2.626e-05	2.625e-05	0	5.372e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.084	0.32929	T	0.03	0.54159	D	0.013	0.16609	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	1.79	0.25509	T	-1.76	0.41618	N	0.072	0.04547	-1.0004	0.29803	T	0.025	0.10733	T	9	0.012620121	0.00271	T	0.002689	0.05521	T	0.015	0.02232	0.151	0.05441	0.159798565429	0.15598	0.050505282665217366	0.04993	0.119354016186	0.13438	0.25077688694	0.03850	T	0.039937	0.25359	T	-0.55523	0.00271	T	-0.685894	0.06629	T	0.0165254141508409	0.00415	T	0.344566	0.07542	T	0.027532468	0.01959	0.04448949	0.05774	0.027532468	0.01959	0.04448949	0.05774	-3.188	0.12334	T	.	.	0.079	0.07177	B	.;.	.;.	0.775831	0.11457	8.064	0.71187607348657644	0.09545	0.02536	0.07051	N	AEFDBI	0.042033	0.06468	N	-1.41933678058739	0.02469	0.1090759	-1.39816721035065	0.03272	0.1522717	0.999949623872696	0.47345	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	5.75	-1.2	0.09062	-0.103000	0.10909	-2.183000	0.04091	-0.827000	0.02907	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2963:0.3739:0.0:0.3298	3.203	0.06260	911	0.21964	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1713.98	38	chr22	37734879	.	C	T	1713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.32;DP=891;ExcessHet=0.0000;FS=3.123;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.166;SOR=0.446	GT:AD:DP:GQ:PL	0/1:73,62:135:99:1728,0,1824	20	0	1	0
chr22	38221563	38221563	C	T	exonic	TMEM184B	.	nonsynonymous SNV	TMEM184B:NM_001195071:exon9:c.G1130A:p.R377H	.	.	409	1109	4	0	0	4	0.00180018	.	.	2194882	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.986	D	0.346	B	0.004	N	1.000	D	1.1	L	0.9	T	-1.036	T	0.087	T	0.216	2.868	15.55	4.05	1.138	2.089	13.463	0.073	0.0113301963412	0.0031	0.00119808	0.0015	0.0011	0.0012	0	0	0.0023	0	0.0004	0.0016623	257	154602	rs150283064	0.0027	0.0027	0.0027	0.0027	0.0032	0.0026	0.0026	0.0032	0.0031	0.0005	0.0011	0.0006	2.519e-05	0.0004	0.0024	0.0032	0.0027	0.0008	0.0019	0.0019	0.0020	0.0019	0.0036	0.0017	0.0017	0.0032	0.0031	0.0007	0	0.0006	0	0	0.0002	0.0034	0.0036	0.0028	0.0002	0.084	0.32929	T	0.441	0.13290	T	0.986	0.61523	D	0.346	0.42645	B	0.003524	0.34820	N	0.237036	0.999932	0.51612	D	1.04	0.26193	L	0.9	0.45248	T	0.06	0.06253	N	0.076	0.05037	-1.0359	0.18575	T	0.087	0.33690	T	10	0.006246507	0.00141	T	0.01133	0.28845	T	0.073	0.21317	.	.	0.117191471859	0.11215	0.5835769452281616	0.58286	0.671977429293	0.59500	0.453005433083	0.32354	T	0.016315	0.13508	T	-0.518953	0.00446	T	-0.517263	0.20572	T	0.0204998444280178	0.00750	T	0.714229	0.32652	T	0.050892256	0.09264	0.046544123	0.06509	0.050892256	0.09264	0.046544123	0.06509	-3.65	0.18582	T	.	.	0.082	0.08948	B	.;.	.;.	3.165806	0.42909	21.6	0.99827029942759327	0.90939	0.88959	0.49146	D	AEFDGBI	0.515624	0.54250	D	0.0904768894995676	0.46019	2.848896	0.0982664578753695	0.44462	2.72749	0.999999622955764	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.07	4.05	0.46415	2.137000	0.41754	4.867000	0.45528	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.366000	0.26021	0.0:0.9239:0.0:0.0761	13.463	0.60692	336	0.86165	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2141.98	34	chr22	38221563	.	C	T	2141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.548;DP=855;ExcessHet=0.0000;FS=1.222;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-7.100e-02;SOR=0.640	GT:AD:DP:GQ:PL	0/1:73,89:162:99:2156,0,1601	20	0	1	0
chr22	39102563	39102563	G	A	exonic	APOBEC3H	.	nonsynonymous SNV	APOBEC3H:NM_001166003:exon5:c.G595A:p.E199K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	0	N	-0.16	T	-0.972	T	0.110	T	0.14	1.134	9.622	.	0.159	0.199	.	0.017	0.00542564958919	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431539199	1.236e-05	1.431e-05	7.671e-06	1.637e-05	0.0001	5.14e-06	3.3e-06	5.221e-05	3.667e-05	0	0	0	0	0	0	0	0	0.0001	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.69	0.16971	N	-0.16	0.65378	T	0.58	0.02598	N	0.186	0.20262	-0.9722	0.36734	T	0.110	0.39723	T	5	0.08421749	0.14091	T	0.005426	0.13923	T	0.017	0.02790	0.39	0.41279	0.043077524339	0.03247	0.37176273620319306	0.37090	0.339098575111	0.35870	0.490690737963	0.37535	T	0.004447	0.03857	T	-0.289297	0.09707	T	-0.457029	0.26924	T	0.111729703539011	0.13601	T	0.505449	0.15971	T	0.14846885	0.33894	0.23244797	0.48406	0.14846885	0.33894	0.23244797	0.48405	-4.148	0.25995	T	.	.	0.122	0.25462	B	.;.	.;.	0.839744	0.12115	8.666	0.97691588887594683	0.35376	0.00360	0.01845	N	AEFDI	0.030877	0.03191	N	-0.86548336924955	0.11671	0.5644994	-1.04762807585438	0.08756	0.4320877	0.0150358391746337	0.12667	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	.	.	.	0.199000	0.17037	0.667000	0.20560	0.217000	0.18040	0.104000	0.22875	0.196000	0.23534	0.106000	0.18562	.	.	.	314	0.87270	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	562.98	34	chr22	39102563	.	G	A	562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.098e+00;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=-2.010e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/1:37,25:62:99:577,0,978	20	0	1	0
chr22	39513595	39513595	G	A	exonic	MIEF1	.	nonsynonymous SNV	MIEF1:NM_001304564:exon6:c.G664A:p.D222N	.	.	416	1098	8	0	0	8	0.00362976	.	.	2822212	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.684	P	0.5	P	0.000	D	1.000	D	1.975	M	3.1	T	-1.226	T	0.043	T	0.152	4.454	23.8	6.07	2.884	7.874	16.051	0.176	0.00398576918541	0.0022	0.000798722	0.0027	0.0006	0.0010	0	0.0003	0.0030	0.0033	0.0061	0.0027425	424	154602	rs138446352	0.0029	0.0029	0.0028	0.0031	0.0068	0.0029	0.0028	0.0059	0.0057	0.0004	0.0013	0.0047	0	0.0003	0.0068	0.0030	0.0023	0.0063	0.0022	0.0022	0.0022	0.0022	0.0039	0.0020	0.0019	0.0030	0.0029	0.0006	0.0055	0.0019	0.0037	0	0.0002	0.0068	0.0034	0.0033	0.0039	0.004	0.68238	D	0.007	0.69154	D	0.684	0.41517	P	0.5	0.47649	P	0.000001	0.84330	D	0.126579	0.998673	0.45259	D	2.375	0.68372	M	3.1	0.08283	T	-2.44	0.53420	N	0.649	0.66016	-1.2257	0.00038	T	0.043	0.18285	T	10	0.010844678	0.00240	T	0.003986	0.09431	T	0.176	0.44373	.	.	0.610735333248	0.60760	0.6501875904085627	0.64954	0.519585128678	0.49787	0.832304000854	0.86915	D	0.052605	0.29209	T	-0.491669	0.00636	T	-0.476552	0.24814	T	0.0348281721890081	0.02780	T	0.958404	0.84340	D	0.6891166	0.77464	0.6608541	0.80128	0.6891166	0.77465	0.6608541	0.80129	-4.804	0.34638	T	.	.	0.203	0.42735	B	.;.;.	.;.;.	4.335055	0.66457	25.0	0.99904953837129651	0.97576	0.98909	0.88484	D	AEFDBI	0.942117	0.94628	D	0.575323907249772	0.71638	5.681228	0.670959388944183	0.80180	7.241852	0.999999999993547	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.639134	0.45391	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	8.000000	0.88004	11.853000	0.98135	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.1333:0.8667:0.0	16.051	0.80567	900	0.24599	Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2435.98	35	chr22	39513595	.	G	A	2435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.060e-01;DP=867;ExcessHet=0.0000;FS=3.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.52;ReadPosRankSum=-1.100e-01;SOR=0.450	GT:AD:DP:GQ:PL	0/1:68,89:157:99:2450,0,1764	20	0	1	0
chr22	40365025	40365025	C	A	exonic	ADSL	.	nonsynonymous SNV	ADSL:NM_000026:exon12:c.C1337A:p.P446H	Adenylosuccinase deficiency, Autosomal recessive	YES	0	1517	5	0	0	5	0.00164528	.	.	446422	not_provided|Adenylosuccinate_lyase_deficiency	MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050,Orphanet:46	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	1.000	D	4.215	H	-4.28	D	1.074	D	0.972	D	0.881	4.653	25.6	5.35	2.687	6.884	19.444	0.927	0.110084740249	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs755964863	1.847e-05	1.915e-05	1.225e-05	2.475e-05	0.0002	1.265e-05	1.084e-05	0.0002	0.0001	0	0	0	0	0	0	2.698e-06	4.968e-05	0.0002	2.629e-05	2.627e-05	0	5.382e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	4.829e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.085	0.97236	H	.	.	.	.	.	.	0.919	0.94196	1.074	0.98704	D	0.972	0.99129	D	10	0.9424708	0.93572	D	0.110085	0.78732	D	0.927	0.98229	0.805	0.92301	0.904220992348	0.90326	0.9063602156136374	0.90609	1.08385655912	0.77218	0.572724163532	0.49062	T	0.942047	0.99098	D	0.248876	0.78496	D	0.411866	0.92491	D	0.992155134677887	0.82567	D	0.985721	0.95129	D	0.9737396	0.98597	0.95870954	0.98902	0.9737396	0.98597	0.95870954	0.98902	-10.055	0.74240	D	0.5848813047494815	0.65168	0.601	0.68937	P	.;.;.	.;.;.	4.951556	0.81797	27.6	0.9967317079599769	0.78717	0.99825	0.99703	D	AEFBI	0.830654	0.74933	D	1.02760771081814	0.96531	14.81082	0.925350633482175	0.96585	14.88017	0.999999999999236	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.35	5.35	0.76297	6.959000	0.75826	7.641000	0.63200	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	19.444	0.94833	647	0.63344	Adenylosuccinate lyase C-terminal|Adenylosuccinate lyase C-terminal;Adenylosuccinate lyase C-terminal|Adenylosuccinate lyase C-terminal;Adenylosuccinate lyase C-terminal|Adenylosuccinate lyase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1107.98	42	chr22	40365025	.	C	A	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.072e+00;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=0.067;SOR=0.719	GT:AD:DP:GQ:PL	0/1:50,45:95:99:1122,0,1441	20	0	1	0
chr22	41910521	41910521	G	A	exonic	SHISA8	.	nonsynonymous SNV	SHISA8:NM_001207020:exon3:c.C698T:p.S233L	.	.	398	1120	4	0	0	4	0.00178253	.	.	2755697	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs756513515	4.116e-05	7.935e-05	3.497e-05	4.796e-05	0.0009	3.138e-05	2.8e-05	0.0006	0.0005	0	0	0	0	0	0.0003	2.256e-05	4.575e-05	0.0009	3.95e-05	3.939e-05	2.576e-05	5.385e-05	0.0012	1.718e-05	1.131e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	.	.	.	0.728	0.05203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.18376	.	.	.	.	.	.	.	0.084609896	0.14200	T	.	.	.	.	.	.	.	0.577039446349	0.57373	0.4123819860216839	0.41154	.	.	0.559238791466	0.47161	T	.	.	.	-0.153105	0.27828	T	-0.457701	0.26851	T	.	.	.	0.616438	0.23595	T	0.152166	0.34555	0.25777754	0.51499	0.152166	0.34555	0.25777754	0.51498	-2.86	0.08749	T	.	.	0.083	0.08997	B	.	.	1.834529	0.23309	15.97	0.86643063377808394	0.16674	0.08936	0.14788	N	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999985738955244	0.51787	0.206829	0.04106	0	0.332779	0.05852	0	0.080604	0.02511	2	0.109499	0.03221	0	0.0697475	0.16433	5.12	2.91	0.32903	0.860000	0.27527	5.698000	0.49367	0.562000	0.28470	0.028000	0.20300	0.990000	0.31317	0.014000	0.10232	0.2239:0.0:0.7761:0.0	7.491	0.26631	131	0.94738	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	359.98	30	chr22	41910521	.	G	A	359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=518;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-1.260e+00;SOR=0.671	GT:AD:DP:GQ:PL	0/1:16,18:34:99:374,0,288	20	0	1	0
chr22	43159360	43159360	C	G	exonic	TSPO	.	nonsynonymous SNV	TSPO:NM_000714:exon2:c.C122G:p.S41W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.084	B	0.078	B	0.000	N	1.000	D	1.485	L	0.79	T	-0.966	T	0.122	T	0.44	1.284	10.20	3.15	0.973	5.521	13.965	0.160	0.0447408954227	.	.	6.466e-05	0	0	0	0	0	0.0066	0	6.5e-06	1	154602	rs750994845	2.153e-06	2.052e-06	0	4.366e-06	3.806e-05	5.7e-07	1.6e-07	1.011e-05	4.8e-06	0	0	0	0	0	0	0	0	3.806e-05	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.075	0.34444	T	0.079	0.42086	T	0.084	0.24799	B	0.078	0.28627	B	0.000476	0.44119	N	0.204155	1	0.81001	D	.	.	.	0.79	0.49068	T	-3.76	0.71276	D	0.336	0.37820	-0.9658	0.38053	T	0.122	0.42399	T	10	0.43339592	0.57637	T	0.044741	0.61641	D	0.160	0.41473	0.534	0.64293	0.364730456448	0.36084	0.5411575182425582	0.54040	0.419516345353	0.42505	0.540383219719	0.44500	T	0.052278	0.29116	T	-0.170877	0.25100	T	-0.352779	0.38886	T	0.485880255699158	0.32113	T	0.909609	0.68017	D	0.40002418	0.60734	0.36301994	0.61696	0.40002418	0.60735	0.36301994	0.61696	-4.837	0.35019	T	.	.	0.134	0.29172	B	.;.;.;.	.;.;.;.	2.987286	0.39869	21.1	0.96412986838680548	0.29730	0.87947	0.47667	D	AEFBCI	0.740241	0.68455	D	-0.323075593074233	0.28274	1.558135	-0.294654726661163	0.28275	1.575124	0.999987128324607	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.18	3.15	0.35301	5.374000	0.65920	3.988000	0.40963	0.581000	0.30040	0.717000	0.28791	0.414000	0.24773	0.261000	0.23543	0.0:0.847:0.153:0.0	13.965	0.63712	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	641.98	34	chr22	43159360	.	C	G	641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.137;DP=768;ExcessHet=0.0000;FS=1.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-4.760e-01;SOR=0.467	GT:AD:DP:GQ:PL	0/1:28,26:54:99:656,0,718	20	0	1	0
chr22	46262935	46262935	C	T	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.G388A:p.V130M,	.	.	438	1000	78	6	0	90	0.0430622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.002	B	0.0	B	.	.	1.000	N	0	N	1.04	T	-1.051	T	0.039	T	0.072	1.492	10.94	-5.51	-1.491	-1.306	0.949	0.024	0.00750178425146	.	0.00119808	0	.	.	.	.	.	.	.	0.0022284	58	26028	rs555983963	0.0073	0.0059	0.0070	0.0077	0.0364	0.0072	0.0071	0.0300	0.0276	0.0007	0.0055	0.0241	0	0.0008	0.0364	0.0069	0.0095	0.0298	0.0057	0.0056	0.0057	0.0056	0.0273	0.0053	0.0052	0.0235	0.0220	0.0012	0	0.0060	0.0207	0.0004	0.0002	0.0144	0.0070	0.0103	0.0273	0.106	0.29688	T	0.129	0.34837	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.04	0.40218	T	-0.34	0.12661	N	0.085	0.06190	-1.0511	0.14092	T	0.039	0.16849	T	9	0.003783077	0.00071	T	0.007502	0.19899	T	0.024	0.04979	.	.	0.144782658237	0.14088	0.1122755194000412	0.11156	.	.	0.766550064087	0.76907	T	0.129762	0.45823	T	-0.643599	0.00079	T	-0.690155	0.06380	T	0.0338523007500729	0.02613	T	0.283372	0.04986	T	0.029207122	0.02378	0.06186876	0.12017	0.029207122	0.02377	0.06186876	0.12016	-6.417	0.49642	T	.	.	0.315	0.54160	B	.	.	0.317506	0.06923	3.465	0.90352359249839387	0.19616	0.00728	0.03057	N	AEFDBCIJ	0.024055	0.01430	N	-1.43408809024655	0.02345	0.1034341	-1.54963673240453	0.01979	0.09036567	0.999999410641253	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	2.75	-5.51	0.02366	-1.631000	0.02128	-0.250000	0.10515	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.1501:0.1918:0.2983:0.3599	0.949	0.01285	945	0.12563	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	389.69	9	chr22	46262935	.	C	T	389.69	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.00;DP=421;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0772;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=8.47;ReadPosRankSum=0.339;SOR=0.776	GT:AD:DP:GQ:PL	0/1:11,6:17:99:135,0,281	18	0	3	0
chr22	49922288	49922325	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	.	435	791	175	16	105	312	0.115707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	9259.9	36	chr22	49922288	.	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	C,*	9259.9	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=1.32;DP=1395;ExcessHet=0.0303;FS=0.551;InbreedingCoeff=0.3824;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=16.13;ReadPosRankSum=-6.650e-01;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,127,0:127:99:1|1:49922284_CG_C:5075,382,0,5075,382,5075:49922284	15	1	2	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	17831.26	36	chr22	49922304	.	C	T,*	17831.26	.	AC=10,8;AF=0.238,0.190;AN=42;BaseQRankSum=2.03;DP=1611;ExcessHet=1.2156;FS=0.561;InbreedingCoeff=0.0278;MLEAC=10,8;MLEAF=0.238,0.190;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.644;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,127:127:99:1|1:49922284_CG_C:5075,5075,5075,382,382,0:49922284	7	1	7	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1933.0	36	chr22	49922325	.	G	C,*	1933.0	.	AC=1,7;AF=0.025,0.175;AN=40;BaseQRankSum=1.19;DP=1482;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3872;MLEAC=1,7;MLEAF=0.025,0.175;MQ=60.00;MQRankSum=0.00;QD=3.70;ReadPosRankSum=1.36;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,127:127:99:1|1:49922284_CG_C:5075,5075,5075,382,382,0:49922284	14	0	1	1
chr22	50266287	50266287	C	T	exonic	MAPK11	.	nonsynonymous SNV	MAPK11:NM_002751:exon9:c.G701A:p.R234H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.359	B	0.044	B	0.000	U	1.000	D	1.165	L	-0.2	T	-0.901	T	0.137	T	0.523	2.927	15.75	4.37	2.016	1.332	8.318	0.231	0.0381893486455	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200495263	9.618e-06	1.573e-05	8.196e-06	1.106e-05	5.052e-05	5.58e-06	4.37e-06	8.37e-06	3.13e-06	0	2.265e-05	0	5.052e-05	0	0	5.409e-06	4.992e-05	2.348e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.467	0.12351	T	0.359	0.33845	B	0.044	0.24394	B	0.000000	0.84330	U	0.000000	0.999999	0.81001	D	1.495	0.37439	L	-0.2	0.66113	T	-3.17	0.64363	D	0.231	0.25989	-0.9010	0.47889	T	0.137	0.45356	T	10	0.22515908	0.39338	T	0.038189	0.58072	D	0.231	0.53208	0.438	0.49157	0.686079328405	0.68339	0.608319583184939	0.60763	0.994184421241	0.74165	0.863263785839	0.91592	D	0.34313	0.71181	T	-0.0128976	0.49858	T	-0.256303	0.49193	T	0.619496285915375	0.37185	D	.	.	.	0.58685356	0.71981	0.4632513	0.68840	0.58685356	0.71982	0.4632513	0.68841	-9.983	0.73810	D	.	.	0.137	0.29968	B	.	.	4.844746	0.79132	27.0	0.99699059910291143	0.80522	0.76229	0.37371	D	AEFBI	0.219843	0.34467	N	-0.0794091195089987	0.38296	2.24081	0.0359321588933407	0.41396	2.486347	0.999375639789982	0.39355	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.37	4.37	0.51830	1.320000	0.33272	2.613000	0.33588	0.547000	0.25779	0.566000	0.27473	0.992000	0.31684	0.998000	0.85391	0.0:0.8897:0.0:0.1103	8.318	0.31272	624	0.65661	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1180.98	33	chr22	50266287	.	C	T	1180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.019;DP=902;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-3.770e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:41,51:92:99:1195,0,911	20	0	1	0
chrX	6533750	6533750	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G556A:p.V186M,	.	.	434	1062	26	0	0	26	0.012093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.982	D	0.729	P	.	.	1.000	N	0	N	2.01	T	-1.044	T	0.046	T	0.148	1.382	10.55	0.463	0.480	0.607	.	0.057	.	.	.	0.0109	0.0078	0.0053	0	0.0141	0.0140	0.0103	0.0102	0.0002135	33	154602	rs74393938	0.0014	0.0055	0.0019	0.0003	0.0017	0.0013	0.0013	0.0014	0.0013	0.0008	0.0008	0.0047	0.0002	0.0033	0.0003	0.0012	0.0022	0.0017	0.0030	0.0069	0.0041	0	0.0035	0.0027	0.0026	0.0028	0.0026	0.0035	0	0.0018	0.0029	0.0003	0.0071	0	0.0028	0.0055	0.0017	0.0	0.91255	D	0.101	0.38596	T	0.982	0.60036	D	0.729	0.55225	P	.	.	.	.	0.999973	0.19072	N	0.695	0.17993	N	1.91	0.23283	T	0.14	0.05405	N	0.075	0.25867	-1.0439	0.16148	T	0.046	0.19800	T	8	0.0052250326	0.00114	T	.	.	.	0.057	0.16321	.	.	.	.	0.010725019350369076	0.01033	0.268142659766	0.29341	0.496027678251	0.38275	T	0.001791	0.01214	T	-0.39512	0.02492	T	-0.805339	0.01772	T	0.0207467507570982	0.00774	T	0.432757	0.11777	T	0.15995844	0.35904	0.15014142	0.35422	0.15995844	0.35904	0.15014142	0.35422	-4.895	0.35678	T	.	.	0.144	0.33573	B	.;.;.	.;.;.	0.449974	0.08202	4.937	0.85326322252058417	0.15823	0.04088	0.09549	N	AEFI	.	.	.	.	.	.	.	.	.	7.46993312473294E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.463	0.15912	-0.735000	0.04992	0.109000	0.14755	0.173000	0.17773	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	1586.35	41	chrX	6533750	.	C	T	1586.35	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.74;DP=3712;ExcessHet=0.3300;FS=8.040;InbreedingCoeff=-0.0877;MLEAC=3;MLEAF=0.071;MQ=54.96;MQRankSum=-4.348e+00;QD=1.38;ReadPosRankSum=-3.580e+00;SOR=1.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,25:248:99:0|1:6533736_G_C:368,0,9283:6533736	18	0	3	0
chrX	6533758	6533758	-	GTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.547_548insCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAAC:p.E182_L183insPLSQESQVEEPLSQESEMEE,	.	.	425	1048	35	4	10	53	0.0201029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0059	0.0058	0.0016	0.0098	0.0043	0.0043	0.0088	0.0085	0.0014	0.0046	0.0098	0.0098	0.0174	0.0058	0.0036	0.0063	0.0023	0.0017	0.0036	0.0022	0.0003	0.0021	0.0015	0.0014	0.0018	0.0016	0.0007	0	0.0020	0.0041	0.0021	0.0012	0.0104	0.0021	0.0030	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5291.07	41	chrX	6533758	.	A	AGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	5291.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.51;DP=3436;ExcessHet=0.1072;FS=70.926;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=50.03;MQRankSum=0.786;QD=12.87;ReadPosRankSum=4.64;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,97:126:99:1|0:6533736_G_C:3703,0,909:6533736	19	0	2	0
chrX	6533824	6533883	TCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	-	exonic	VCX3A	.	nonframeshift deletion	VCX3A:NM_016379:exon3:c.423_482del:p.V160_E179del,	.	.	45	125	45	1	10	57	0.158249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0009	0.0006	6.599e-05	0.0042	0.0004	0.0004	0.0031	0.0027	0.0003	0.0005	0.0028	0.0042	0.0009	0.0014	0.0003	0.0010	0.0004	0.0044	0.0088	0.0058	0	0.0074	0.0039	0.0038	0.0043	0.0039	0.0053	0.0028	0.0055	0.0040	0.0074	0.0053	0.0227	0.0036	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4493.37	298	chrX	6533823	.	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	C,TTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT,*	4493.37	.	AC=1,6,1;AF=0.050,0.300,0.050;AN=20;BaseQRankSum=0.473;DP=4867;ExcessHet=4.6500;FS=6.509;InbreedingCoeff=-0.3114;MLEAC=2,9,2;MLEAF=0.100,0.450,0.100;MQ=47.84;MQRankSum=1.25;QD=4.70;ReadPosRankSum=2.24;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:38,0,20,0:58:99:0|1:6533736_G_C:715,829,2425,0,1596,1535,829,2425,1596,2425:6533736	2	0	1	11
chrX	6533823	6533883	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	0	exonic	VCX3A	.	.	.	.	.	627	586	269	6	34	315	0.193393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4493.37	298	chrX	6533823	.	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	C,TTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT,*	4493.37	.	AC=1,6,1;AF=0.050,0.300,0.050;AN=20;BaseQRankSum=0.473;DP=4867;ExcessHet=4.6500;FS=6.509;InbreedingCoeff=-0.3114;MLEAC=2,9,2;MLEAF=0.100,0.450,0.100;MQ=47.84;MQRankSum=1.25;QD=4.70;ReadPosRankSum=2.24;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:38,0,20,0:58:99:0|1:6533736_G_C:715,829,2425,0,1596,1535,829,2425,1596,2425:6533736	2	0	1	11
chrX	6533831	6533831	C	0	exonic	VCX3A	.	.	.	.	.	520	916	66	3	17	89	0.0378151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	721.15	177	chrX	6533831	.	C	G,*	721.15	.	AC=1,3;AF=0.031,0.094;AN=32;BaseQRankSum=-2.512e+00;DP=3673;ExcessHet=0.6776;FS=4.344;InbreedingCoeff=-0.1831;MLEAC=1,4;MLEAF=0.031,0.125;MQ=39.27;MQRankSum=2.06;QD=2.63;ReadPosRankSum=2.74;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,20,0:52:99:0|1:6533736_G_C:733,0,1283,829,1344,2173:6533736	12	0	1	5
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,51,0,0:88:99:0|1:7843976_C_T:1421,0,651,1532,804,2336,1532,804,2336,2336:7843976	0	8	6	4
chrX	7843976	7843976	-	AGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.581_582insAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT:p.S195Gfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0.0002	0	0	0	0	0	0	.	.	.	.	3.738e-06	8.672e-06	5.615e-06	0	6.53e-05	6.2e-07	2.3e-07	.	.	0	6.53e-05	0	0	0	0	2.552e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,51,0,0:88:99:0|1:7843976_C_T:1421,0,651,1532,804,2336,1532,804,2336,2336:7843976	0	8	6	4
chrX	8796329	8796329	C	T	exonic	FAM9A	.	nonsynonymous SNV	FAM9A:NM_001171186:exon6:c.G427A:p.A143T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.983	D	0.736	P	.	.	1.000	N	0.69	N	.	.	-1.037	T	0.051	T	0.08	0.229	5.235	-0.327	-0.205	0.178	.	0.109	.	0.0035	0.00291391	0.0034	0.0012	0.0013	0	0.0049	0.0055	0.0021	0.0007	0.0030918	478	154602	rs148031370	0.0059	0.0060	0.0061	0.0056	0.0072	0.0058	0.0058	0.0070	0.0069	0.0008	0.0011	0.0013	0	0.0036	0.0012	0.0072	0.0043	0.0008	0.0036	0.0036	0.0039	0.0030	0.0063	0.0033	0.0032	0.0057	0.0055	0.0009	0	0.0013	0.0015	0	0.0028	0.0047	0.0063	0.0020	0.0008	0.156	0.24090	T	0.551	0.09393	T	0.983	0.60381	D	0.736	0.55529	P	.	.	.	.	1	0.08975	N	0.345	0.11182	N	.	.	.	-1.35	0.33598	N	0.044	0.01658	-1.0371	0.18202	T	0.051	0.21806	T	7	0.0074426234	0.00169	T	.	.	.	0.109	0.30843	.	.	0.338592109245	0.33472	0.010700589535231167	0.01031	0.311760668889	0.33482	.	.	.	0.009438	0.08594	T	-0.698652	0.00037	T	-0.772616	0.02683	T	0.0210366418829909	0.00804	T	0.445455	0.12454	T	0.16291358	0.36398	0.19529615	0.43199	0.16291358	0.36398	0.19529615	0.43198	-4.12	0.25584	T	.	.	0.259	0.49412	B	.;.	.;.	1.307216	0.17096	12.96	0.74744612736666527	0.10811	0.00634	0.02782	N	AEFGI	.	.	.	.	.	.	.	.	.	0.499832219760755	0.20933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.678	-0.327	0.12064	0.626000	0.24185	-2.526000	0.03647	0.326000	0.19454	0.958000	0.33488	0.000000	0.08366	0.032000	0.13371	.	.	.	987	0.02648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2888.08	35	chrX	8796329	.	C	T	2888.08	.	AC=2;AF=0.048;AN=42;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.72;SOR=1.396	GT:AD:DP:GQ:PL	1/1:0,94:94:99:2916,282,0	20	1	0	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,22,0:90:99:0|1:10469688_G_A:387,0,2196,590,2260,2850:10469688	10	0	10	0
chrX	10469688	10469688	G	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294G:p.L432V	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.056298643	0.06289	T	.	.	.	.	.	.	.	0.327401308167	0.32341	.	.	.	.	.	.	.	0.002243	0.01642	T	-0.246398	0.14543	T	-0.59171	0.13519	T	.	.	.	0.329867	0.06895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20391	B	.	.	2.708854	0.35399	19.89	0.75207624297957498	0.10986	0.17709	0.19954	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,22,0:90:99:0|1:10469688_G_A:387,0,2196,590,2260,2850:10469688	10	0	10	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2895	2549.41	154	chrX	10469690	.	T	C	2549.41	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.832e+00;DP=2194;ExcessHet=7.7275;FS=128.174;InbreedingCoeff=-0.4080;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.463;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,22:90:99:0|1:10469688_G_A:387,0,2196:10469688	8	0	11	2
chrX	12885765	12885765	A	T	exonic	TLR7	.	nonsynonymous SNV	TLR7:NM_016562:exon3:c.A257T:p.H86L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.0	B	0.002	B	0.092	N	1.000	N	0.49	N	4.38	T	-0.907	T	0.006	T	0.318	0.585	7.160	-3.25	-0.233	0.001	8.054	0.033	0.00574518385078	.	.	1.14e-05	0	0	0	0	0	0	9.882e-05	6.5e-06	1	154602	rs200654867	1.002e-05	1.002e-05	4.084e-06	2.2e-05	0.0001	5.37e-06	3.93e-06	7.331e-05	5.269e-05	0	0	0	0	0	0	0	6.508e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.321	0.19073	T	0.0	0.02946	B	0.002	0.06944	B	0.091930	0.02463	N	1.783810	1	0.08975	N	0.4	0.12274	N	4.38	0.02255	T	-1.91	0.44471	N	0.069	0.04188	-0.9072	0.47191	T	0.006	0.02055	T	10	0.055446893	0.06063	T	0.005745	0.14892	T	0.033	0.08068	0.369	0.37850	0.218628672733	0.21463	0.3884372418017107	0.38758	0.858969444807	0.68879	0.30810546875	0.11621	T	0.144956	0.48184	T	-0.585803	0.00178	T	-0.78305	0.02362	T	0.0444310689700682	0.04499	T	0.747625	0.36808	T	0.113075316	0.26709	0.12222741	0.29485	0.113075316	0.26709	0.12222741	0.29484	-2.795	0.08138	T	.	.	0.071	0.03773	B	.	.	0.276105	0.06533	3.017	0.82222494587878137	0.14081	0.08941	0.14792	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999909739842815	0.45458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.79	-3.25	0.04765	-0.000000	0.12910	0.097000	0.14596	0.743000	0.86499	0.000000	0.06391	0.000000	0.08366	0.916000	0.45140	0.5508:0.2011:0.248:0.0	8.054	0.29757	728	0.54609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4223.08	45	chrX	12885765	.	A	T	4223.08	.	AC=2;AF=0.048;AN=42;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.74;SOR=0.876	GT:AD:DP:GQ:PL	1/1:0,129:129:99:4251,387,0	20	1	0	0
chrX	45069832	45069832	C	T	exonic	KDM6A	.	nonsynonymous SNV	KDM6A:NM_001291418:exon15:c.C1940T:p.T647M	Kabuki syndrome 2, X-linked dominant	.	1	1240	187	92	2	373	0.13013	.	.	380059	not_specified|Kabuki_syndrome_2|not_provided	MedGen:CN169374|MONDO:MONDO:0010465,MedGen:C3275495,OMIM:300867,Orphanet:2322|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.646	P	0.097	B	0.209	N	1.000	P	0	N	0.76	T	-1.067	T	0.055	T	0.202	0.353	5.916	-2.48	-0.616	-0.793	15.541	0.062	0.153986145614	.	.	0.0002	0	0.0006	0	0	0.0002	0	0.0002	0.0001423	22	154602	rs2230018	0.0003	0.0003	0.0002	0.0003	0.0012	0.0002	0.0002	0.0005	0.0003	0	0.0003	5.159e-05	9.944e-05	0	0.0012	0.0003	0.0003	0.0005	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0002	0.0002	3.259e-05	0	9.522e-05	0	0	0	0	0.0003	0.0007	0.0008	0.139	0.25768	T	0.09	0.40267	T	0.646	0.40549	P	0.097	0.30390	B	0.208580	0.16421	N	0.640382	0.999966	0.18878	P	0.345	0.11182	N	0.76	0.49919	T	0.81	0.01839	N	0.052	0.15187	-1.0668	0.10131	T	0.055	0.23110	T	9	0.03868887	0.02304	T	0.153986	0.83517	D	0.062	0.17934	.	.	0.193917141947	0.19028	0.24952797713721842	0.24866	0.11190476299	0.12625	0.237911581993	0.02605	T	0.015006	0.34128	T	-0.617003	0.00115	T	-0.779121	0.02480	T	0.0065993512139926	0.00074	T	0.863414	0.55914	D	0.040850677	0.05909	0.09863973	0.23522	0.053731814	0.10210	0.1197753	0.28907	-5.446	0.41359	T	0.1269424636613506	0.12910	0.068	0.03093	B	.;.;.;.;.	.;.;.;.;.	-1.081137	0.00663	0.018	0.8421640515683424	0.15163	0.07799	0.13795	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999952254868068	0.48110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.82	-2.48	0.06052	-0.985000	0.03861	-4.604000	0.02073	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.943000	0.48514	0.0:0.7711:0.0:0.2289	15.541	0.75790	611	0.66908	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.2381	28040.68	33	chrX	45069832	.	C	A,T	28040.68	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=4.41;DP=1938;ExcessHet=0.0097;FS=0.544;InbreedingCoeff=0.4750;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=19.89;ReadPosRankSum=-1.040e-01;SOR=0.755	GT:AD:DP:GQ:PL	1/1:0,106,0:106:99:3651,318,0,3651,318,3651	14	3	3	0
chrX	49332776	49332776	A	T	exonic	GAGE13;GAGE2D;GAGE2E;GAGE8	.	nonsynonymous SNV	GAGE2D:NM_001098407:exon2:c.A39T:p.R13S	.	.	548	918	55	1	0	57	0.0301109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.626	P	0.34	B	.	.	1.000	N	0.995	L	2.43	T	-1.027	T	0.034	T	0.13	1.685	11.59	0.78	0.561	0.553	.	0.009	0.0963211805793	.	.	0.0021	0	0	0.0870	0	0	0	0.0127	.	.	.	rs782197330	0.0004	0.0024	0.0006	1.027e-05	0.0011	0.0004	0.0004	0.0008	0.0007	0.0002	0.0011	0.0007	0.0004	0.0004	0.0006	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0	0	0	0	0.0015	0	0.0005	0	0	.	.	.	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.179	0.19325	-1.0272	0.21363	T	0.034	0.14639	T	8	0.10150775	0.18551	T	0.096321	0.76582	D	.	.	.	.	0.0551355673512	0.04727	0.044374252869738985	0.04381	.	.	0.481666773558	0.36287	T	0.023792	0.18095	T	-0.449224	0.01141	T	-0.883056	0.00629	T	0.489776283502579	0.32256	T	0.334567	0.07109	T	0.41984916	0.62081	0.30143943	0.56176	0.41984916	0.62082	0.30143943	0.56175	-4.846	0.35123	T	.	.	0.287	0.51951	B	.	.	1.310242	0.17132	12.98	0.98174813158402829	0.38890	0.00875	0.03461	N	AEFI	.	.	.	.	.	.	.	.	.	1.42886845054689E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.78	0.17701	-0.334000	0.07927	-1.097000	0.06340	-0.565000	0.04808	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	53	0.97589	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1316	161.85	21	chrX	49332776	.	A	T	161.85	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.195e+00;DP=273;ExcessHet=0.0454;FS=4.060;InbreedingCoeff=0.1396;MLEAC=5;MLEAF=0.132;MQ=29.40;MQRankSum=-1.559e+00;QD=4.37;ReadPosRankSum=2.20;SOR=0.136	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	15	1	3	2
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X	.	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	0.974	N	.	.	.	.	.	.	.	.	.	2.938	15.79	0.637	0.126	1.026	4.504	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.6429	358994.42	659	chrX	55146104	.	G	A	358994.42	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.384;DP=14798;ExcessHet=17.4423;FS=0.000;InbreedingCoeff=-0.5620;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=25.13;ReadPosRankSum=0.159;SOR=0.675	GT:AD:DP:GQ:PL	0/1:93,690:783:99:18441,0,326	0	6	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I	.	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0	N	1.2	T	-0.995	T	0.031	T	0.047	-0.165	3.194	-3.2	-1.373	-0.117	6.324	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3824	41642.18	636	chrX	55146139	.	G	A	41642.18	.	AC=13;AF=0.382;AN=34;BaseQRankSum=0.241;DP=14777;ExcessHet=12.7758;FS=1.317;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.564;SOR=0.591	GT:AD:DP:GQ:PL	0/1:621,189:810:99:3490,0,16998	4	0	13	4
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S	.	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.013	B	.	.	1.000	N	0	N	1.03	T	-1.045	T	0.046	T	0.044	2.192	13.29	0.635	0.130	1.087	4.527	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	44724.71	464	chrX	55146173	.	G	A	44724.71	.	AC=16;AF=0.400;AN=40;BaseQRankSum=1.44;DP=14192;ExcessHet=22.9655;FS=0.657;InbreedingCoeff=-0.6471;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.95;ReadPosRankSum=0.470;SOR=0.810	GT:AD:DP:GQ:PL	0/1:599,171:770:99:3139,0,17350	4	0	16	1
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X	.	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	0.067	U	1.000	D	.	.	.	.	.	.	.	.	.	1.559	11.17	1.6	1.084	1.600	6.091	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	41330.81	464	chrX	55146197	.	G	A	41330.81	.	AC=17;AF=0.405;AN=42;BaseQRankSum=1.21;DP=12738;ExcessHet=25.1139;FS=0.664;InbreedingCoeff=-0.6768;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-3.990e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/1:528,142:670:99:2680,0,16076	4	0	17	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N	.	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.001	B	0.171	N	1.000	P	-0.345	N	1.04	T	-1.045	T	0.035	T	0.025	-1.501	0.017	-1.04	-0.355	-0.019	4.225	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	279484.49	466	chrX	55146212	.	C	T	279484.49	.	AC=22;AF=0.524;AN=42;BaseQRankSum=2.82;DP=11864;ExcessHet=43.6797;FS=1.429;InbreedingCoeff=-0.9104;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=25.15;ReadPosRankSum=1.65;SOR=0.530	GT:AD:DP:GQ:PL	0/1:83,508:591:99:16146,0,833	0	1	20	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S	.	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.988	D	0.986	D	0.181	N	1.000	N	-0.08	N	1.06	T	-1.010	T	0.074	T	0.096	-0.199	3.032	0.436	0.049	0.532	2.954	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	12630.32	397	chrX	55146242	.	C	T	12630.32	.	AC=8;AF=0.190;AN=42;BaseQRankSum=0.806;DP=9077;ExcessHet=3.5521;FS=0.686;InbreedingCoeff=-0.2394;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=3.42;ReadPosRankSum=0.420;SOR=0.625	GT:AD:DP:GQ:PL	0/1:410,71:481:99:942,0,13632	13	0	8	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R	.	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.991	D	0.182	U	1.000	N	1.385	L	0.49	T	-0.956	T	0.213	T	0.424	2.149	13.14	1.6	1.084	1.915	6.091	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	30065.86	352	chrX	55146247	.	G	C	30065.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.033e+00;DP=8964;ExcessHet=20.9642;FS=0.691;InbreedingCoeff=-0.6153;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.83;ReadPosRankSum=-4.230e-01;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:371,84:455:99:0|1:55146247_G_C:2346,0,15107:55146247	5	0	16	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13	.	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	29505.39	352	chrX	55146252	.	A	AT,G	29505.39	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.83;DP=8656;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6799;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=-5.690e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:357,83,0:440:99:0|1:55146247_G_C:2355,0,14667,3429,14917,18347:55146247	4	0	16	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G	.	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.18	B	0.062	B	0.023	N	1.000	N	1.445	L	0.62	T	-1.046	T	0.083	T	0.07	1.063	9.342	-0.917	-0.353	0.231	4.198	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	144900.84	345	chrX	55146254	.	T	C	144900.84	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-1.022e+00;DP=8618;ExcessHet=43.6797;FS=5.118;InbreedingCoeff=-0.9301;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=18.14;ReadPosRankSum=-9.060e-01;SOR=0.494	GT:AD:DP:GQ:PL	0/1:151,272:423:99:7594,0,5170	0	1	20	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8	.	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27841.82	280	chrX	55146255	.	TG	T	27841.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.845;DP=7945;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.80;ReadPosRankSum=-9.670e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:349,79:428:99:0|1:55146247_G_C:2265,0,14410:55146247	5	0	16	0
chrX	55146256	55146256	G	0	exonic	FAM104B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:349,79,0:428:99:0|1:55146247_G_C:2265,0,14410,3315,14648,17963:55146247	5	0	15	0
chrX	55146256	55146256	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C179A:p.A60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.712	P	0.402	B	0.061	U	1.000	N	1.04	L	0.84	T	-1.050	T	0.077	T	0.217	0.319	5.727	-0.582	-0.288	-0.780	2.532	0.029	0.00436554593426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.012	0.63918	D	0.712	0.42110	P	0.116	0.44547	B	0.061012	0.22205	U	0.310110	1	0.08975	N	1.295	0.32453	L	0.84	0.47477	T	-2.3	0.51157	N	0.257	0.29313	-1.0498	0.14453	T	0.077	0.30828	T	10	0.053805858	0.05630	T	0.004366	0.10624	T	0.029	0.06676	0.355	0.35571	0.156986980423	0.15292	0.24595024861261647	0.24509	0.191270352614	0.21451	0.305318623781	0.11200	T	0.047192	0.27649	T	-0.370384	0.03574	T	-0.769807	0.02774	T	0.165286540985107	0.18253	T	0.779322	0.41328	T	0.17303388	0.38027	0.2548788	0.51160	0.17303388	0.38027	0.2548788	0.51160	-2.801	0.10719	T	.	.	0.213	0.44174	B	.;.;.;.;.	.;.;.;.;.	0.380615	0.07526	4.173	0.39602496394885089	0.02743	0.01150	0.04159	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999987547343258	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.582	0.11122	-0.412000	0.07197	-3.618000	0.02653	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.900000	0.43643	0.2511:0.3045:0.4444:0.0	2.532	0.04420	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:349,79,0:428:99:0|1:55146247_G_C:2265,0,14410,3315,14648,17963:55146247	5	0	15	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L	.	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.127	B	0.271	B	0.153	U	1.000	N	1.495	L	0.27	T	-0.863	T	0.155	T	0.217	0.481	6.608	-1.26	-0.432	0.511	4.529	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	145728.82	278	chrX	55146275	.	T	G	145728.82	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-5.160e-01;DP=6743;ExcessHet=43.6797;FS=12.602;InbreedingCoeff=-0.9267;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=23.59;ReadPosRankSum=-3.687e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/1:63,271:334:99:8238,0,918	0	1	20	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	.	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.0	B	0.264	N	0.950	D	1.545	L	3.03	T	-1.071	T	0.025	T	0.431	0.577	7.117	4.55	1.072	2.664	13.469	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	280.42	34	chrX	74591813	.	G	A	280.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-2.189e+00;DP=1340;ExcessHet=1.1607;FS=0.872;InbreedingCoeff=-0.1196;MLEAC=3;MLEAF=0.071;MQ=58.73;MQRankSum=-7.437e+00;QD=0.60;ReadPosRankSum=-3.262e+00;SOR=0.852	GT:AD:DP:GQ:PL	0/1:49,8:57:99:122,0,1700	16	0	5	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	.	9	1217	293	0	3	296	0.107444	.	.	706313	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.22	T	0.842	P	0.1	B	0.514	U	1.000	N	0	N	-1.96	D	-0.795	T	0.216	T	0.391	-2.619	0	0.088	0.675	0.068	3.724	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.3095	5960.15	34	chrX	74591904	.	A	G	5960.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.726e+00;DP=3755;ExcessHet=11.8493;FS=3.151;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=58.85;MQRankSum=-1.351e+01;QD=1.72;ReadPosRankSum=3.78;SOR=0.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,33:179:99:0|1:74591902_T_A:946,0,6000:74591902	8	0	13	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4: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	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.017	N	1.000	N	0.895	L	-1.6	D	-0.872	T	0.310	T	0.192	-1.096	0.146	4.1	1.077	-0.129	7.602	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	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	1974.03	34	chrX	74591957	.	C	T	1974.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.777e+00;DP=2767;ExcessHet=1.7912;FS=2.136;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=59.08;MQRankSum=-1.348e+01;QD=1.28;ReadPosRankSum=-2.514e+00;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,26:221:99:0|1:74591902_T_A:505,0,8067:74591902	15	0	6	0
chrX	74740311	74740311	G	A	exonic	NEXMIF	.	nonsynonymous SNV	NEXMIF:NM_001008537:exon3:c.C4246T:p.P1416S,	.	.	0	1488	19	15	0	49	0.0161983	.	.	209184	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.28	T	0.003	B	0.003	B	0.950	N	1.000	N	-0.145	N	1.4	T	-1.011	T	0.041	T	0.191	-0.099	3.513	0.953	0.072	1.139	5.072	0.024	.	0.0025	0.00423841	0.0042	0.0002	0.0025	0	0.0009	0.0032	0.0047	0.0183	0.0041461	641	154602	rs143577015	0.0037	0.0037	0.0033	0.0045	0.0210	0.0036	0.0036	0.0179	0.0175	0.0004	0.0030	0.0036	0	0.0006	0.0210	0.0030	0.0045	0.0189	0.0030	0.0031	0.0030	0.0028	0.0187	0.0027	0.0026	0.0146	0.0131	0.0005	0	0.0021	0.0019	0	0.0010	0.0186	0.0042	0.0046	0.0187	0.164	0.23360	T	0.537	0.09863	T	0.003	0.11197	B	0.003	0.08700	B	0.950024	0.07650	N	1.020200	1	0.08975	N	.	.	.	1.4	0.33630	T	-0.26	0.11185	N	0.043	0.01577	-1.0113	0.26510	T	0.041	0.17446	T	10	0.005046755	0.00109	T	.	.	.	0.043	0.11576	.	.	0.110392049598	0.10638	0.05384120559567808	0.05326	0.225443782394	0.25087	0.246586099267	0.03417	T	0.026208	0.19441	T	-0.671795	0.00054	T	-0.723484	0.04629	T	0.0017482905982906	0.00018	T	0.627737	0.24333	T	0.033257518	0.03508	0.07495811	0.16451	0.03067696	0.02771	0.060889095	0.11667	-2.562	0.06220	T	.	.	0.087	0.11414	B	.;.;.	.;.;.	1.128051	0.15144	11.62	0.79036634721978738	0.12562	0.63772	0.32194	D	AEFBI	.	.	.	.	.	.	.	.	.	1.02528459067012E-4	0.05123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	0.953	0.18714	2.789000	0.47504	3.723000	0.39593	-0.169000	0.11342	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.1589:0.2892:0.4622:0.0896	5.072	0.13946	103	0.95740	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.07143	5724.66	35	chrX	74740311	.	G	A	5724.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.485e+00;DP=974;ExcessHet=0.0000;FS=0.420;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=17.89;ReadPosRankSum=-7.000e-03;SOR=0.731	GT:AD:DP:GQ:PL	1/1:0,90:90:99:2862,270,0	19	1	1	0
chrX	80677318	80677318	G	T	exonic	BRWD3	.	nonsynonymous SNV	BRWD3:NM_153252:exon41:c.C4700A:p.P1567H,	Mental retardation, X-linked 93, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.001	B	0.340	N	0.941	D	-0.345	N	0.59	T	-1.054	T	0.070	T	0.137	0.191	5.028	3.26	1.930	2.163	13.652	0.039	0.0143731987452	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs763361602	1.097e-05	1.093e-05	1.09e-05	1.11e-05	1.428e-05	5.85e-06	4.62e-06	7.61e-06	6.01e-06	0	0	0	0	0	0	1.428e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.129	0.34837	T	0.002	0.09854	B	0.001	0.04355	B	0.339864	0.13980	N	0.678240	0.941319	0.37329	D	0.895	0.22405	L	0.59	0.53943	T	-0.67	0.19297	N	0.132	0.12770	-1.0540	0.13305	T	0.070	0.28511	T	9	0.08959046	0.15533	T	0.014373	0.34441	T	0.039	0.10176	0.194	0.10571	0.29893580763	0.29502	0.13990613607825672	0.13913	0.450389580777	0.44803	0.363233447075	0.19856	T	0.138255	0.47164	T	-0.295826	0.09058	T	-0.66271	0.08085	T	0.253372947875857	0.23023	T	0.659934	0.26896	T	0.33116236	0.55566	0.41290745	0.65480	0.33116236	0.55566	0.41290745	0.65480	-3.949	0.23038	T	0.201912599211606	0.26839	0.076	0.06024	B	.	.	1.917717	0.24354	16.37	0.84188529928660194	0.15147	0.83960	0.43049	D	AEFBI	.	.	.	.	.	.	.	.	.	4.23864935852499E-4	0.06935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.22	3.26	0.36471	2.211000	0.42465	3.636000	0.39331	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8335:0.1665	13.652	0.61792	681	0.59854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1416.08	37	chrX	80677318	.	G	T	1416.08	.	AC=2;AF=0.048;AN=42;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.50;SOR=1.067	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1444,144,0	20	1	0	0
chrX	107545825	107545825	T	C	exonic	FRMPD3	.	nonsynonymous SNV	FRMPD3:NM_032428:exon6:c.T485C:p.V162A,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.030	N	0.794	N	1.73	L	1.93	T	-0.973	T	0.091	T	0.293	2.498	14.31	4.83	2.088	5.888	10.686	0.083	0.028669019063	.	0.0013245	0.0002	0	0.0001	0.0008	0	2.426e-05	0.0019	0.0011	0.0002135	33	154602	rs138678310	5.219e-05	5.191e-05	3.406e-05	8.931e-05	0.0008	4.078e-05	3.724e-05	0.0005	0.0005	0	0	0	0.0008	0	0	3.582e-06	8.72e-05	0.0005	0.0001	0.0001	0.0001	8.792e-05	0.0022	6.102e-05	4.8e-05	0.0011	0.0008	0	0	0	0	0.0022	0	0	0	0	0.0015	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	0.029679	0.25420	N	0.392252	0.793873	0.29194	N	1.83	0.48079	L	1.93	0.22881	T	-3.4	0.67014	D	0.17	0.18103	-0.9729	0.36583	T	0.091	0.34710	T	8	0.019956738	0.00452	T	0.028669	0.51308	D	0.083	0.24192	.	.	0.544172096265	0.54071	0.400329796995948	0.39947	0.160037289134	0.18055	.	.	.	0.077605	0.36659	T	-0.504852	0.00537	T	-0.543513	0.17954	T	0.172954783850779	0.18779	T	0.588541	0.21576	T	0.52183765	0.68365	0.5555045	0.74291	0.52183765	0.68366	0.5555045	0.74292	-5.201	0.38952	T	.	.	0.197	0.41962	B	.;.	.;.	3.063472	0.41146	21.3	0.99654735504151826	0.77505	0.93039	0.57172	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.998045561928054	0.36353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.17	4.83	0.61880	5.927000	0.69800	1.780000	0.28708	0.665000	0.62972	1.000000	0.71638	0.947000	0.28924	0.914000	0.44937	0.0:0.0891:0.0:0.9109	10.686	0.45039	33	0.98110	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2366.08	37	chrX	107545825	.	T	C	2366.08	.	AC=2;AF=0.048;AN=42;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.33;SOR=0.855	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2394,234,0	20	1	0	0
chrX	120379482	120379482	A	T	exonic	ATP1B4	.	nonsynonymous SNV	ATP1B4:NM_001142447:exon8:c.A922T:p.T308S	.	.	430	1034	30	28	0	86	0.0399257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.711	P	0.41	B	0.000	D	1.000	D	0.49	N	1.56	T	-1.091	T	0.060	T	0.166	2.429	14.08	5.72	1.911	4.079	14.033	0.094	.	0.0014	0.00529801	0.0038	0.0005	0.0005	0	0.0022	0.0024	0.0082	0.0223	0.0036804	569	154602	rs138577504	0.0023	0.0023	0.0018	0.0032	0.0288	0.0022	0.0022	0.0245	0.0230	0.0002	0.0008	0.0005	3.334e-05	0.0015	0.0288	0.0013	0.0036	0.0195	0.0018	0.0019	0.0016	0.0024	0.0190	0.0016	0.0015	0.0148	0.0133	0.0001	0.0044	0.0019	0.0004	0.0006	0.0011	0.0327	0.0019	0.0033	0.0190	0.208	0.19782	T	0.2	0.27591	T	0.711	0.42090	P	0.41	0.44785	B	0.000000	0.84330	D	0.047345	0.999845	0.49770	D	0.995	0.25082	L	1.56	0.29602	T	-1.65	0.39692	N	0.067	0.07398	-1.0910	0.05367	T	0.060	0.24981	T	10	0.009136409	0.00206	T	.	.	.	0.094	0.27141	.	.	0.516770950016	0.51320	0.7401097463312105	0.73955	0.433384082707	0.43495	0.614305377007	0.54924	T	0.016557	0.13660	T	-0.654293	0.00068	T	-0.697686	0.05953	T	0.0296468893722377	0.01935	T	0.79512	0.43772	T	0.40518048	0.61089	0.34659722	0.60326	0.40518048	0.61090	0.34659722	0.60325	-5.61	0.43210	T	.	.	0.194	0.52177	B	.;.;.	.;.;.	2.149820	0.27382	17.44	0.99072733689664194	0.51762	0.84846	0.43938	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999872186014163	0.44625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.72	5.72	0.89380	4.136000	0.57766	11.011000	0.84858	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	1.0:0.0:0.0:0.0	14.033	0.64149	924	0.18029	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1578.66	33	chrX	120379482	.	A	T	1578.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.075;DP=656;ExcessHet=0.0000;FS=4.401;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.93;ReadPosRankSum=1.35;SOR=0.244	GT:AD:DP:GQ:PL	1/1:0,18:18:54:580,54,0	19	1	1	0
chrX	124381186	124381186	C	T	exonic	TENM1	.	nonsynonymous SNV	TENM1:NM_014253:exon31:c.G7528A:p.G2510R	.	.	438	1074	6	4	0	14	0.00647549	.	.	3219800	TENM1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.257	B	0.075	B	0.008	N	1.000	D	0	N	-1.91	D	-0.467	T	0.321	T	0.309	1.003	9.096	5.83	2.460	3.028	12.633	0.181	0.631605782772	9.5e-05	0.0018543	0.0009	0.0001	0.0001	0	0	0.0001	0.0016	0.0065	0.0008603	133	154602	rs185277810	0.0004	0.0004	0.0003	0.0007	0.0060	0.0004	0.0004	0.0054	0.0052	0	2.841e-05	0	0	0	0.0053	9.62e-05	0.0002	0.0060	0.0002	0.0002	0.0001	0.0003	0.0056	0.0001	0.0001	0.0034	0.0028	3.239e-05	0	9.43e-05	0	0	0	0	7.517e-05	0.0007	0.0056	0.106	0.32141	T	0.422	0.14034	T	0.121	0.26708	B	0.032	0.22131	B	0.008427	0.30846	N	0.368500	0.945292	0.37482	D	0.41	0.12415	N	-1.94	0.84919	D	-0.96	0.25986	N	0.098	0.07949	-0.4671	0.69827	T	0.321	0.69047	T	10	0.006038189	0.00136	T	0.631606	0.96837	D	0.181	0.45247	0.331	0.31681	0.444231683744	0.44045	0.719846219959831	0.71927	0.580046561263	0.53860	0.462271302938	0.33623	T	0.025284	0.18938	T	-0.369102	0.03640	T	-0.301462	0.44571	T	0.0253142472057662	0.01314	T	0.918508	0.70719	D	0.25603557	0.48641	0.2613046	0.51905	0.25603557	0.48641	0.2613046	0.51905	-3.491	0.16306	T	.	.	0.076	0.06024	B	.;.	.;.	2.730058	0.35734	19.98	0.94815166607115187	0.25580	0.91590	0.53847	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999536500128956	0.40238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.83	5.83	0.93059	3.091000	0.49896	4.063000	0.41603	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.2887:0.7113:0.0:0.0	12.633	0.56027	974	0.05496	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2241.08	34	chrX	124381186	.	C	T	2241.08	.	AC=2;AF=0.048;AN=42;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.48;SOR=0.925	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2269,195,0	20	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.741	P	0.621	P	0.000	D	0.998	D	2.095	M	1.12	T	-0.845	T	0.185	T	0.728	2.907	15.69	4.88	2.356	4.577	16.741	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	903.93	74	chrX	135580144	.	G	C	903.93	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.040e+00;DP=1536;ExcessHet=20.9642;FS=227.873;InbreedingCoeff=-0.6099;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.503;SOR=12.634	GT:AD:DP:GQ:PL	0/1:32,18:50:60:60,0,471	5	0	16	0
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7105	95143.29	325	chrX	141906385	.	C	G,*	95143.29	.	AC=25,3;AF=0.658,0.079;AN=38;BaseQRankSum=1.37;DP=4666;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6889;MLEAC=27,3;MLEAF=0.711,0.079;MQ=57.01;MQRankSum=-5.940e-01;QD=25.67;ReadPosRankSum=0.391;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,225,0:226:99:.:.:6879,635,0,6882,675,6922	4	11	2	2
chrY	9467257	9467257	G	A	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.G257A:p.R86Q	.	.	1147	333	32	10	0	52	0.0724234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.982	D	0.543	P	.	.	.	.	0.345	N	1.55	T	-1.042	T	0.020	T	0.125	-1.151	0.102	.	-0.000	-1.449	.	0.052	.	.	.	0.1667	.	.	0	.	.	.	0.2	3.84e-05	1	26028	rs777840135	0.0001	0.0005	.	0.0001	0.0011	9.158e-05	8.115e-05	0.0007	0.0006	0	0	0	0	0.0001	0	6.671e-05	8.002e-05	0.0011	3.003e-05	0.0002	.	3.003e-05	0.0007	0	0	.	.	0	0	0	0	0.0007	0	0	0	0	0	0.413	0.10052	T	0.586	0.15059	T	0.942	0.58077	P	0.102	0.43842	B	.	.	.	.	.	.	.	1.24	0.30952	L	1.55	0.29866	T	0.29	0.04161	N	0.051	0.04790	-1.0424	0.16592	T	0.020	0.08500	T	5	0.0024063885	0.00036	T	.	.	.	0.052	0.14661	.	.	0.15556083564	0.15200	0.056038622022919246	0.05544	.	.	.	.	.	0.009498	0.08644	T	-0.450626	0.01120	T	-0.885069	0.00613	T	0.039082858610258	0.03525	T	0.458954	0.13262	T	0.09309585	0.21857	0.15247531	0.35872	0.09309585	0.21857	0.15247531	0.35871	-3.152	0.11903	T	.	.	0.072	0.09578	B	.;.	.;.	0.182618	0.05701	2.146	0.81828080224814892	0.13880	0.00167	0.00991	N	AEF	.	.	.	.	.	.	.	.	.	1.11426519872457E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.090000	0.11129	.	.	0.221000	0.18078	0.946000	0.32893	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.07143	264.27	81	chrY	9467257	.	G	A	264.27	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.53;DP=81;ExcessHet=0.0000;FS=4.419;MLEAC=2;MLEAF=0.143;MQ=34.78;MQRankSum=-7.960e-01;QD=12.58;ReadPosRankSum=0.776;SOR=1.897	GT:AD:DP:GQ:PL	0/1:10,11:21:99:269,0,193	6	0	1	14