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	NSWES942-M	WT	HH	HZ	NC
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	0/1:17,39:56:99:891,0,323	18	0	3	0
chr1	1520597	1520597	T	C	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon7:c.T730C:p.W244R	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	.	415	1085	22	0	0	22	0.0100365	.	.	2839839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.85	T	0.001	B	0.008	B	0.000	N	1.000	D	1.225	L	1.0	T	-0.307	T	0.620	D	0.461	-1.952	0.007	3.28	0.184	3.672	11.643	0.071	0.332367645262	.	.	0.0002	9.625e-05	8.643e-05	0	0	0.0001	0	0.0005	1.94e-05	3	154602	rs2767468	0.0004	0.0006	0.0004	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	0.0002	0.0002	0	0.0002	0	0.0035	0.0004	0.0004	0.0005	0.0002	0.0009	0.0001	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	0.0003	0	0.0002	0	0.0002	0	0.0034	0.0001	0	0.0017	0.839	0.02825	T	0.841	0.04965	T	0.001	0.07471	B	0.008	0.13708	B	0.000002	0.62929	N	0.063421	0.999913	0.53665	D	0.995	0.25082	L	-3.0	0.93352	D	-6.95	0.94352	D	0.479	0.51494	-0.3070	0.74790	T	0.620	0.86618	D	10	0.19466835	0.35287	T	0.332368	0.91787	D	0.336	0.65816	0.583	0.70990	0.784197563543	0.78219	0.8997627746519212	0.89948	0.593987100731	0.54729	0.550479531288	0.45925	T	0.122339	0.44593	T	0.0944643	0.63688	D	-0.102085	0.63236	T	0.0701929091246324	0.08678	T	0.535446	0.17943	T	0.3268352	0.55211	0.39737242	0.64354	0.415586	0.61797	0.40001217	0.64549	-4.84	0.48149	T	0.20377204074795494	0.27139	0.351	0.61755	A	.;.;.	.;.;.	2.661937	0.34679	19.69	0.20906440186603245	0.00773	0.88584	0.48580	D	AEFGBI	0.341212	0.43777	N	-0.949316226723773	0.09707	0.4606452	-0.820431655846448	0.14000	0.7293059	0.128589634574862	0.17043	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.42	3.28	0.36691	3.387000	0.52240	4.879000	0.45646	-0.872000	0.02536	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0804:0.0:0.9196	11.643	0.50502	846	0.36215	.;ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523;.	.	.	.	.	.	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	86.98	35	chr1	1520597	.	T	C	86.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.540e-01;DP=994;ExcessHet=0.0000;FS=22.086;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.08;MQRankSum=-1.362e+01;QD=0.33;ReadPosRankSum=-1.774e+00;SOR=2.379	GT:AD:DP:GQ:PL	0/1:232,31:263:99:101,0,6376	20	0	1	0
chr1	1752908	1752908	-	CCTCCT	exonic	NADK	.	nonframeshift insertion	NADK:NM_001198995:exon10:c.1240_1241insAGGAGG:p.E413_G414insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0013	0.0013	0.0016	0	0.0018	0.0093	0.0161	0.0003074	8	26028	rs150880809	0.0039	0.0041	0.0034	0.0044	0.0211	0.0038	0.0038	0.0203	0.0200	0.0040	0.0042	0.0015	0.0026	0.0003	0.0130	0.0028	0.0048	0.0211	0.0044	0.0045	0.0041	0.0047	0.0232	0.0041	0.0040	0.0197	0.0184	0.0042	0.0111	0.0037	0.0012	0.0042	0.0006	0.0171	0.0038	0.0107	0.0232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22075.32	36	chr1	1752908	.	C	CCCT,CCCTCCT	22075.32	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-6.990e-01;DP=1313;ExcessHet=0.1361;FS=0.555;InbreedingCoeff=0.2741;MLEAC=14,1;MLEAF=0.333,0.024;MQ=59.91;MQRankSum=0.00;QD=26.12;ReadPosRankSum=0.088;SOR=0.757	GT:AD:DP:GQ:PL	0/1:37,32,0:69:99:1205,0,1431,1317,1527,2844	10	3	7	0
chr1	2606283	2606283	T	A	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon8:c.A715T:p.N239Y,	.	.	415	1102	4	1	0	6	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.949	P	0.516	P	0.000	D	1.000	D	2.015	M	-0.79	T	-0.177	T	0.392	T	0.357	3.361	17.33	4.76	1.766	3.621	13.456	0.399	.	.	0.00199681	0.0021	0	8.67e-05	0	0	0	0.0067	0.0152	0.0017529	271	154602	rs533316401	0.0010	0.0010	0.0006	0.0015	0.0162	0.0010	0.0010	0.0155	0.0152	2.987e-05	4.472e-05	0	2.519e-05	0	0.0007	4.137e-05	0.0010	0.0162	0.0005	0.0006	0.0003	0.0008	0.0162	0.0004	0.0004	0.0133	0.0122	2.406e-05	0	0	0	0	0	0	1.471e-05	0.0009	0.0162	0.02	0.49613	D	0.052	0.47581	T	0.949	0.53761	P	0.516	0.48072	P	0.000045	0.53742	D	0.160044	0.999804	0.81001	D	2.175	0.60977	M	-0.79	0.73739	T	-2.29	0.50992	N	0.697	0.70175	-0.1775	0.78243	T	0.392	0.74575	T	10	0.029409438	0.01068	T	.	.	.	0.399	0.71321	0.575	0.69957	0.856652639049	0.85527	0.7386314533236433	0.73808	0.70065952119	0.61107	0.502461075783	0.39171	T	0.318181	0.68957	T	-0.319883	0.06908	T	-0.219942	0.52743	T	0.0724176210184724	0.08987	T	0.756224	0.37950	T	0.17608139	0.38501	0.1801663	0.40799	0.17608139	0.38501	0.1801663	0.40798	-7.204	0.55510	T	.	.	0.225	0.45665	B	.	.	6.698036	0.95608	35	0.99304733670285694	0.58759	0.88838	0.48962	D	AEFBI	0.598690	0.59199	D	0.30776831473035	0.56545	3.819512	0.268869553611754	0.53730	3.540605	0.971514724104596	0.29294	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.76	4.76	0.60189	5.544000	0.66938	4.822000	0.45127	0.640000	0.52149	1.000000	0.71638	1.000000	0.68203	0.386000	0.26469	0.0:0.0:0.0:1.0	13.456	0.60649	842	0.36989	Peptidase M13, N-terminal domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1246.98	34	chr1	2606283	.	T	A	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.208e+00;DP=833;ExcessHet=0.0000;FS=3.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=0.324;SOR=0.851	GT:AD:DP:GQ:PL	0/1:71,58:129:99:1261,0,1716	20	0	1	0
chr1	2611305	2611305	T	G	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon4:c.A268C:p.T90P,	.	.	.	.	.	.	.	.	.	.	.	3457493	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.007	B	0.013	B	0.362	N	0.999	D	1.665	L	-1.57	D	-0.322	T	0.415	T	0.652	1.947	12.47	2.66	1.717	1.595	8.721	0.462	0.512412969835	.	.	5.767e-05	0	0	0	0	0	0	0.0004	2.59e-05	4	154602	rs770298035	3.027e-05	3.078e-05	1.535e-05	4.546e-05	0.0005	2.281e-05	2.027e-05	0.0004	0.0003	3.173e-05	0	0	0	0	0	0	1.708e-05	0.0005	1.316e-05	1.314e-05	0	2.695e-05	0.0004	2.19e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	0.102	0.53900	T	0.211	0.26631	T	0.007	0.14184	B	0.013	0.16460	B	0.362399	0.13650	N	0.707040	0.999489	0.47237	D	1.47	0.36993	L	-1.57	0.81900	D	-2.17	0.49018	N	0.449	0.48689	-0.3222	0.74360	T	0.415	0.76218	T	10	0.3808394	0.54181	T	0.512413	0.95322	D	0.462	0.75889	0.392	0.41606	0.68083381961	0.67812	0.7646848045696039	0.76417	0.706614473469	0.61453	0.487788408995	0.37133	T	0.534415	0.83945	D	-0.0743089	0.40637	T	-0.0441921	0.67417	D	0.0981658282019208	0.12154	T	0.659534	0.36032	T	0.4142778	0.61708	0.5274414	0.72697	0.4142778	0.61709	0.5274414	0.72697	-11.516	0.82414	D	.	.	0.092	0.33687	B	.;.	.;.	3.284015	0.45011	22.0	0.97548436440061859	0.34555	0.76328	0.37426	D	ALL	0.481519	0.52278	N	-0.354627254600918	0.27103	1.48433	-0.300205540819873	0.28093	1.563627	0.976444975880345	0.29725	0.443343	0.08805	1	0.578056	0.33634	0	0.666236	0.60216	0	0.604944	0.38103	0	.	.	3.77	2.66	0.30672	1.769000	0.38152	1.636000	0.27766	0.640000	0.52149	1.000000	0.71638	1.000000	0.68203	0.093000	0.17941	0.0:0.0983:0.0:0.9017	8.721	0.33600	842	0.36989	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	749.98	38	chr1	2611305	.	T	G	749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.583;DP=843;ExcessHet=0.0000;FS=1.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.98;ReadPosRankSum=1.89;SOR=0.842	GT:AD:DP:GQ:PL	0/1:59,35:94:99:764,0,1439	20	0	1	0
chr1	2641664	2641664	G	A	exonic	TTC34	.	nonsynonymous SNV	TTC34:NM_001242672:exon8:c.C2944T:p.R982C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	.	.	.	.	0.698	U	0.962	N	-0.55	N	0.99	T	-1.036	T	0.036	T	0.137	0.045	4.249	1.38	0.058	0.529	3.227	0.020	0.00995942131	.	0.00139776	0.0003	0	0	0	0	0	0	0.0004	8.41e-05	13	154602	rs545565598	0.0001	0.0001	0.0001	0.0001	0.0018	0.0001	0.0001	0.0014	0.0013	9.5e-05	0	0	0.0018	0	0.0004	4.265e-05	0.0002	0.0007	0.0002	0.0002	0.0001	0.0003	0.0050	0.0002	0.0001	0.0035	0.0030	0	0	0	0	0.0050	0	0	2.941e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.698236	0.10116	U	0.853808	0.971307	0.26099	N	-0.345	0.03330	N	.	.	.	.	.	.	.	.	-1.0362	0.18481	T	0.036	0.15726	T	8	0.004797101	0.00101	T	0.009959	0.25923	T	0.020	0.03691	0.542	0.65446	0.366659145958	0.36277	0.2367700363662724	0.23592	.	.	0.443857967854	0.31104	T	0.008537	0.07834	T	-0.62341	0.00105	T	-0.663977	0.08001	T	0.017942775474669	0.00520	T	0.248475	0.03691	T	0.048379026	0.08423	0.04485265	0.05903	0.048379026	0.08422	0.04485265	0.05903	-3.662	0.18759	T	.	.	0.072	0.05145	B	.;.	.;.	1.321670	0.17257	13.06	0.85989730381820351	0.16241	0.03056	0.07957	N	AEFDBHCI	0.048031	0.08154	N	-0.997261971277257	0.08662	0.4069965	-1.03376588385426	0.09048	0.4480441	0.999997108725669	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.505578	0.09266	0	0.604944	0.38103	0	.	.	3.85	1.38	0.21262	-0.058000	0.11707	2.457000	0.32838	-0.059000	0.16651	0.002000	0.15269	1.000000	0.68203	0.032000	0.13371	0.671:0.0:0.1186:0.2105	3.227	0.06336	.	.	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	759.98	33	chr1	2641664	.	G	A	759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.52;ReadPosRankSum=-2.200e-02;SOR=0.616	GT:AD:DP:GQ:PL	0/1:19,27:46:99:774,0,450	20	0	1	0
chr1	3494421	3494421	G	A	exonic	MEGF6	.	nonsynonymous SNV	MEGF6:NM_001409:exon32:c.C4079T:p.T1360M,	.	.	421	1099	2	0	0	2	0.000909091	.	.	2340857	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.992	D	0.024	U	1.000	N	3.095	M	1.39	T	-0.762	T	0.252	T	0.332	1.235	10.01	2.65	0.686	4.010	12.456	0.115	0.0464234641605	0.0003	0.000399361	0.0012	0.0020	0	0	0	0.0010	0.0058	0.0014	0.0002781	43	154602	rs369605349	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0006	0.0002	0	2.793e-05	2.483e-05	0.0009	0.0003	0.0005	0.0008	0.0004	0.0004	0.0003	0.0004	0.0006	0.0003	0.0003	0.0003	0.0003	0.0005	0	0.0003	0	0	0	0	0.0004	0.0005	0.0006	0.043	0.59928	D	0.009	0.66756	D	1.0	0.90584	D	0.954	0.80445	D	0.023715	0.26392	U	0.356855	1	0.08975	N	3.495	0.92709	M	1.39	0.33842	T	-5.37	0.84882	D	0.495	0.52829	-0.7620	0.57296	T	0.252	0.62142	T	10	0.09761405	0.17592	T	0.046423	0.62452	D	0.115	0.32236	.	.	0.37550373646	0.37164	0.33723940004229913	0.33636	0.530034928815	0.50556	0.481380909681	0.36246	T	0.08297	0.36949	T	-0.371182	0.03534	T	-0.362301	0.37785	T	0.113025641101455	0.13734	T	0.823718	0.48487	T	0.17333926	0.38076	0.16201071	0.37655	0.17333926	0.38076	0.16201071	0.37654	-6.505	0.52380	T	.	.	0.155	0.34205	B	.;.	.;.	3.309566	0.45468	22.1	0.99695119602782367	0.80248	0.78706	0.38872	D	AEFBI	0.287778	0.39984	N	0.174880854504501	0.49995	3.193935	-0.0693837955541418	0.36662	2.136531	0.998807558846388	0.37711	0.634777	0.41761	0	0.588066	0.40923	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	3.58	2.65	0.30588	3.640000	0.54086	3.772000	0.39758	0.676000	0.76740	0.809000	0.29839	0.730000	0.26410	0.008000	0.08271	0.0:0.3226:0.6774:0.0	12.456	0.55043	982	0.03397	.;Laminin EGF domain|EGF-like 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	1	0	0	0	0	0	0	0	0	0	0	0.02381	1107.98	38	chr1	3494421	.	G	A	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.890;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.78;ReadPosRankSum=-1.804e+00;SOR=0.634	GT:AD:DP:GQ:PL	0/1:18,41:59:99:1122,0,352	20	0	1	0
chr1	6555409	6555409	G	C	exonic	TAS1R1	.	nonsynonymous SNV	TAS1R1:NM_138697:exon1:c.G36C:p.Q12H	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.222	B	0.043	B	0.038	N	0.999	N	0.69	N	-2.46	D	-0.680	T	0.109	T	0.189	3.108	16.38	1.17	0.481	0.712	4.612	0.242	.	0.0002	0.0113818	0.0057	0.0002	0	0.0733	0	2.634e-05	0.0039	0.0007	0.0035252	545	154602	rs75881102	0.0016	0.0016	0.0017	0.0015	0.0513	0.0016	0.0015	0.0495	0.0487	0	6.806e-05	0	0.0513	0	0.0002	3.425e-05	0.0039	0.0005	0.0020	0.0020	0.0018	0.0022	0.0509	0.0018	0.0017	0.0459	0.0439	0	0	0.0017	0	0.0509	0	0	4.409e-05	0.0024	0.0006	0.005	0.91255	D	0.168	0.34359	T	0.012	0.16265	B	0.006	0.12133	B	0.037741	0.01838	N	2.257320	0.999148	0.21576	N	.	.	.	-2.46	0.91192	D	-0.34	0.22294	N	0.189	0.27673	-0.6805	0.61349	T	0.109	0.39462	T	10	0.0036830604	0.00068	T	.	.	.	0.242	0.54781	0.487	0.57098	0.551009825273	0.54757	0.5893080090986877	0.58860	0.15539898781	0.17539	0.395897090435	0.24498	T	0.047341	0.27694	T	-0.310079	0.07740	T	-0.180939	0.56437	T	0.0777268205650559	0.09693	T	0.640436	0.25296	T	0.072656915	0.16180	0.096488826	0.22929	0.072656915	0.16180	0.096488826	0.22928	-3.658	0.18700	T	.	.	0.159	0.35119	B	.;.	.;.	0.950609	0.13269	9.768	0.9864516869967761	0.44110	0.47496	0.27996	N	AEFDGBCIJ	0.080929	0.16368	N	-0.855265901914736	0.11921	0.5780545	-0.770268785450118	0.15225	0.7996643	0.999988284130698	0.51787	0.403107	0.06075	0	0.541556	0.11502	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.46	1.17	0.19998	0.729000	0.25696	2.052000	0.30351	-0.734000	0.03706	0.990000	0.36992	0.999000	0.35428	0.007000	0.07825	0.1089:0.0:0.4765:0.4146	4.612	0.11796	851	0.35303	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	702.98	40	chr1	6555409	.	G	C	702.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.480e+00;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=1.83;SOR=0.712	GT:AD:DP:GQ:PL	0/1:32,29:61:99:717,0,910	20	0	1	0
chr1	6632889	6632889	C	T	exonic	THAP3	.	nonsynonymous SNV	THAP3:NM_001195752:exon5:c.C529T:p.H177Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.996	D	0.991	D	0.007	N	1.000	D	2.095	M	-3.99	D	0.968	D	0.909	D	0.581	3.782	19.20	4.05	2.071	4.389	11.575	0.640	0.397860294551	.	.	.	.	.	.	.	.	.	.	.	.	.	rs968143932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.993	0.68779	D	0.979	0.79672	D	0.006697	0.31864	N	0.211412	0.99762	0.81001	D	2.085	0.57729	M	-3.99	0.96308	D	-4.48	0.77965	D	0.652	0.67650	0.968	0.96669	D	0.909	0.96986	D	10	0.797339	0.79189	D	0.39786	0.93332	D	0.640	0.86283	0.349	0.34598	0.913766752971	0.91290	0.4809612143496493	0.48016	1.13332111402	0.78691	0.672153413296	0.63144	T	0.193725	0.54928	T	0.233683	0.77067	D	0.0978926	0.76768	D	0.989117324352264	0.79372	D	0.80342	0.45053	T	0.42294854	0.62287	0.49044633	0.70520	0.42294854	0.62288	0.49044633	0.70521	-7.247	0.56480	T	.	.	0.717	0.73934	P	.;.	.;.	4.709019	0.75631	26.4	0.99716318213912158	0.81703	0.91187	0.53031	D	AEFDBCI	0.628351	0.61047	D	0.556172317222219	0.70459	5.504556	0.489561293977961	0.67298	5.065126	0.999972958123827	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.05	4.05	0.46415	4.711000	0.61570	7.544000	0.60141	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	11.575	0.50113	739	0.53257	.;.	.	.	.	.	.	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	1788.98	37	chr1	6632889	.	C	T	1788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.650e-01;DP=876;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=-7.170e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:67,72:139:99:1803,0,1656	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|1:143,25:168:91:0|1:10326244_G_C:91,0,5235:10326244	8	0	13	0
chr1	10660248	10660248	A	G	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.T794C:p.V265A	.	.	424	1071	26	1	0	28	0.0129032	.	.	695947	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.084	N	1.000	N	-0.55	N	.	.	-0.985	T	0.015	T	0.012	-2.557	0.003	1.3	0.082	0.831	3.961	0.029	.	0.0069	0.00299521	0.0073	0.0010	0.0046	0	0.0017	0.0115	0.0056	0.0022	0.0069469	1074	154602	rs138985539	0.0081	0.0081	0.0082	0.0080	0.0104	0.0080	0.0079	0.0087	0.0086	0.0016	0.0059	0.0313	0	0.0021	0.0104	0.0088	0.0088	0.0024	0.0070	0.0070	0.0075	0.0065	0.0102	0.0066	0.0065	0.0096	0.0094	0.0015	0	0.0095	0.0297	0.0002	0.0011	0.0306	0.0102	0.0114	0.0021	0.908	0.02477	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.083835	0.20731	N	0.492755	1	0.08975	N	-0.345	0.03330	N	.	.	.	0.52	0.02853	N	0.052	0.02366	-0.9854	0.33735	T	0.015	0.05801	T	9	0.0022799373	0.00033	T	.	.	.	0.029	0.06676	.	.	0.043077524339	0.03247	0.08958754732725842	0.08891	.	.	0.458169311285	0.33059	T	0.111085	0.42630	T	-0.703405	0.00035	T	-0.771493	0.02719	T	0.000453725176605205	0.00004	T	0.349165	0.07749	T	0.0205099	0.00611	0.024355443	0.00453	0.026193097	0.01646	0.024355443	0.00453	-2.53	0.06004	T	.	.	0.051	0.00234	B	.;.	.;.	-0.290436	0.02660	0.340	0.20271689420521952	0.00722	0.04523	0.10152	N	AEFBI	0.045906	0.07563	N	-1.40019804897115	0.02638	0.1167413	-1.31256629560817	0.04267	0.2008946	0.777367603031914	0.23775	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	1.3	0.20778	0.977000	0.29072	0.320000	0.17174	-0.745000	0.03636	0.582000	0.27602	0.000000	0.08366	0.047000	0.14932	0.4216:0.0:0.4186:0.1597	3.961	0.08906	778	0.48011	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2997.11	33	chr1	10660248	.	A	G	2997.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.17;DP=1009;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=1.41;SOR=0.701	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1057,0,1233	19	0	2	0
chr1	13318598	13318598	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G191A:p.R64H,	.	.	405	1091	26	0	0	26	0.0117754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.002	B	0.002	B	0.074	N	1.000	N	.	.	2.79	T	-1.004	T	0.017	T	0.07	-1.859	0.009	-2.1	-2.222	-0.392	0.380	0.031	0.0369774697323	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472959485	0.0003	0.0067	0.0003	0.0003	0.0013	0.0003	0.0003	0.0007	0.0006	0.0005	0.0002	0.0002	0.0009	9.573e-05	0.0013	0.0003	0.0003	0.0005	0.0003	0.0025	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0035	6.657e-05	0	0.0006	0.0002	0	0.0002	0.0005	0.0004	0.525	0.07140	T	0.575	0.08654	T	.	.	.	.	.	.	0.074092	0.02283	N	1.881130	1	0.08975	N	.	.	.	2.79	0.11189	T	-0.55	0.16799	N	0.044	0.01658	-1.0293	0.20681	T	0.015	0.05946	T	8	0.023069829	0.00593	T	0.001222	0.01608	T	.	.	.	.	0.0297737177859	0.01360	0.23243132047722803	0.23158	.	.	0.456076145172	0.32774	T	.	.	.	-0.42041	0.01700	T	-0.841667	0.01074	T	0.0221624638565028	0.00927	T	0.152485	0.01303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	-0.306877	0.02587	0.318	0.3247514774469345	0.01884	0.00112	0.00708	N	AEFI	0.021848	0.01021	N	-1.54749839839041	0.01549	0.06767291	-1.73690248014379	0.00983	0.04406507	1.1847666085279E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	-2.29	0.06419	-0.600000	0.05789	-8.133000	0.01022	-3.802000	0.00059	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2401:0.3173:0.2441:0.1984	0.434	0.00444	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	906.68	50	chr1	13318598	.	G	A	906.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.608;DP=1464;ExcessHet=0.3300;FS=10.291;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=36.78;MQRankSum=-1.888e+00;QD=1.52;ReadPosRankSum=-1.951e+00;SOR=2.070	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,17:179:99:0|1:13318598_G_A:206,0,6676:13318598	18	0	3	0
chr1	13318601	13318601	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G194A:p.R65H,	.	.	406	1103	13	0	0	13	0.00585849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.009	B	0.006	B	0.213	N	1.000	N	.	.	2.79	T	-0.966	T	0.017	T	0.062	-0.778	0.738	-0.162	-0.693	-0.526	6.180	0.027	0.0336539354214	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416469108	5.572e-05	0.0019	5.475e-05	5.67e-05	0.0009	4.569e-05	4.179e-05	0.0003	0.0002	8.969e-05	2.244e-05	0.0004	2.52e-05	1.877e-05	0.0009	3.437e-05	8.326e-05	0.0002	0.0001	0.0007	0.0002	0.0001	0.0006	9.796e-05	8.303e-05	0.0002	9.119e-05	9.639e-05	0	6.588e-05	0.0003	0	9.445e-05	0	0.0002	0.0005	0.0006	0.204	0.20078	T	0.542	0.09690	T	.	.	.	.	.	.	0.212854	0.03399	N	1.582610	1	0.08975	N	.	.	.	2.79	0.11189	T	-2.67	0.57110	D	0.089	0.06720	-0.9832	0.34258	T	0.043	0.18576	T	8	0.088977695	0.15370	T	0.001103	0.01312	T	.	.	.	.	0.0297737177859	0.01360	0.23248738235852817	0.23163	.	.	0.376942545176	0.21821	T	.	.	.	-0.398143	0.02381	T	-0.809682	0.01672	T	0.115081892617503	0.13942	T	0.555844	0.19272	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	0.481113	0.08503	5.267	0.62407952715295867	0.06955	0.00427	0.02100	N	AEFI	0.022775	0.01181	N	-1.00019295008573	0.08600	0.4038423	-1.23786836837196	0.05313	0.2528468	1.09865888659562E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	0.144	0.14120	-0.846000	0.04444	-10.921000	0.00652	-0.668000	0.04312	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2396:0.0:0.7604:0.0	4.502	0.11278	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	868.68	50	chr1	13318601	.	G	A	868.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.06;DP=1442;ExcessHet=0.3300;FS=13.380;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=36.67;MQRankSum=-1.868e+00;QD=1.46;ReadPosRankSum=-2.094e+00;SOR=2.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,16:177:99:0|1:13318598_G_A:187,0,6658:13318598	18	0	3	0
chr1	13319836	13319836	A	0	exonic	PRAMEF15	.	.	.	.	.	432	909	136	0	45	181	0.0696008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	989.28	40	chr1	13319836	.	A	G,*	989.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.654e+00;DP=2161;ExcessHet=0.3300;FS=6.894;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=31.09;MQRankSum=-5.001e+00;QD=0.84;ReadPosRankSum=2.87;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:329,65,0:394:99:.:.:442,0,8090,1428,8285,9712	18	0	2	0
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.073	B	0.06	B	0.141	N	1.000	N	0.895	L	4.64	T	-0.936	T	0.014	T	0.276	1.481	10.90	1.3	0.164	-0.009	4.527	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	596.83	142	chr1	15518245	.	C	T	596.83	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.421e+00;DP=1813;ExcessHet=1.7912;FS=165.634;InbreedingCoeff=-0.1592;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.402;SOR=11.152	GT:AD:DP:GQ:PL	0/1:114,37:151:64:64,0,2608	15	0	6	0
chr1	15559540	15559540	G	C	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon7:c.G102C:p.K34N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.998	D	0.852	P	0.000	D	0.979	N	1.955	M	2.29	T	-1.078	T	0.076	T	0.404	2.415	14.03	4.1	0.866	2.104	9.034	0.109	0.0328347890655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0033	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.11e-05	2.242e-05	0.0002	0.0002	0.0002	0	0.0003	0.0002	6.995e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.40832	T	0.002	0.83351	D	0.998	0.73220	D	0.852	0.60758	P	0.000001	0.84330	D	0.092863	0.978976	0.25213	N	2.62	0.76659	M	2.29	0.17113	T	-1.14	0.29323	N	0.808	0.81658	-1.0776	0.07821	T	0.076	0.30492	T	10	0.615474	0.67681	D	0.032835	0.54554	D	0.109	0.30843	0.288	0.24761	0.361160317528	0.35726	0.7971393182230749	0.79666	0.675634459511	0.59719	0.593763709068	0.52025	T	0.024746	0.32281	T	-0.129001	0.31658	T	-0.423077	0.30724	T	0.763135969638824	0.44033	D	0.957038	0.84692	D	0.17311552	0.38042	0.10023495	0.23959	0.17311552	0.38041	0.10023495	0.23958	-3.109	0.43915	T	.	.	0.535	0.66159	A	.;.;.;.	.;.;.;.	4.221675	0.63864	24.6	0.99651966654979685	0.77380	0.89772	0.50455	D	AEFDGBCI	0.332943	0.43219	N	0.165367727067141	0.49541	3.153414	0.114872783977894	0.45307	2.796318	0.999975053923645	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.95	4.1	0.47196	2.185000	0.42215	3.965000	0.40779	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.2241:0.0:0.7759:0.0	9.034	0.35440	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	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	0.1071	64.26	74	chr1	15559540	.	G	C	64.26	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-4.176e+00;DP=2293;ExcessHet=0.3300;FS=213.033;InbreedingCoeff=-0.1831;MLEAC=4;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=0.759;SOR=10.704	GT:AD:DP:GQ:PL	0/1:97,29:126:35:35,0,2062	11	0	3	7
chr1	15725495	15725495	G	C	exonic	PLEKHM2	.	nonsynonymous SNV	PLEKHM2:NM_015164:exon8:c.G891C:p.E297D,	.	.	419	1090	12	1	0	14	0.00638104	.	.	447354	Dilated_Cardiomyopathy,_Recessive	MedGen:CN239222	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.31	T	0.001	B	0.003	B	0.298	N	1.000	N	0.695	N	0.81	T	-1.052	T	0.050	T	0.078	0.661	7.545	-0.213	-0.309	0.234	7.309	0.029	.	0.0042	0.00239617	0.0091	0.0008	0.0171	0	0.0183	0.0152	0	0.0013	0.0032212	498	154602	rs61738982	0.0043	0.0043	0.0043	0.0044	0.0047	0.0042	0.0042	0.0046	0.0046	0.0007	0.0038	0.0094	0	0.0034	0.0032	0.0047	0.0044	0.0016	0.0034	0.0034	0.0036	0.0032	0.0052	0.0032	0.0031	0.0048	0.0046	0.0008	0	0.0027	0.0089	0	0.0040	0.0102	0.0052	0.0047	0.0006	0.166	0.23183	T	0.365	0.16717	T	0.001	0.07471	B	0.003	0.08700	B	0.297958	0.14650	N	0.673698	0.999997	0.08975	N	1.78	0.46185	L	0.81	0.48769	T	-0.13	0.14193	N	0.098	0.09772	-1.0525	0.13709	T	0.050	0.21456	T	10	0.0027320385	0.00042	T	.	.	.	0.029	0.06676	0.092	0.01108	0.187945064343	0.18414	0.04548187094265733	0.04492	0.136916518323	0.15440	0.369736731052	0.20794	T	0.012511	0.10987	T	-0.601717	0.00142	T	-0.634351	0.10086	T	0.00112805250531267	0.00011	T	0.587941	0.21745	T	0.05514608	0.10677	0.050879143	0.08074	0.05514608	0.10676	0.050879143	0.08074	-4.44	0.30096	T	.	.	0.084	0.11172	B	.;.;.	.;.;.	0.488346	0.08577	5.343	0.98370892766588502	0.40750	0.12125	0.17075	N	AEFDBI	0.089372	0.18115	N	-1.16558310143289	0.05529	0.2522628	-1.16605404051323	0.06484	0.312281	0.933966873701734	0.27151	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.35	-0.213	0.12517	0.269000	0.18354	0.730000	0.21079	-0.118000	0.14412	0.008000	0.17931	0.113000	0.22817	0.300000	0.24500	0.2754:0.4223:0.3023:0.0	7.309	0.25639	756	0.51065	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1276.98	35	chr1	15725495	.	G	C	1276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.609;DP=802;ExcessHet=0.0000;FS=0.720;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-6.210e-01;SOR=0.619	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1291,0,1203	20	0	1	0
chr1	15929667	15929667	C	T	exonic	SPEN	.	nonsynonymous SNV	SPEN:NM_015001:exon11:c.C3427T:p.R1143C,	.	.	431	1083	8	0	0	8	0.00367985	.	.	3208072	SPEN-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.002	B	0.001	B	.	.	1.000	N	-1.1	N	3.09	T	-0.958	T	0.008	T	0.065	0.215	5.159	3.13	0.585	2.229	4.939	0.059	0.00323857580161	0.0004	0.000399361	0.0005	9.988e-05	0.0003	0	0	0.0007	0.0011	0.0008	0.0004722	73	154602	rs145802445	0.0003	0.0003	0.0002	0.0003	0.0024	0.0003	0.0003	0.0015	0.0012	5.976e-05	0.0002	0	0	0	0.0024	0.0003	0.0005	0.0010	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	4.815e-05	0	0	0	0	0	0	0.0004	0.0005	0.0010	0.132	0.26519	T	0.306	0.19972	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.999984	0.18198	N	0	0.06538	N	3.09	0.08371	T	-1.59	0.38345	N	0.08	0.05542	-0.9583	0.39497	T	0.008	0.02884	T	9	0.013141364	0.00280	T	0.003239	0.07147	T	0.059	0.16972	.	.	0.082315109003	0.07666	0.10271011754872392	0.10201	0.314982508774	0.33775	0.218506008387	0.01225	T	0.57242	0.85865	D	-0.626132	0.00101	T	-0.744977	0.03685	T	0.01737310426068	0.00475	T	0.80372	0.45098	T	0.06449365	0.13690	0.048732556	0.07301	0.06449365	0.13690	0.048732556	0.07300	-7.142	0.55064	T	.	.	0.075	0.05579	B	.	.	2.811054	0.37005	20.4	0.80941301008218236	0.13442	0.68108	0.33678	D	AEFBCIJ	0.067842	0.13355	N	-0.473013561037891	0.22967	1.230	-0.242927380161229	0.30014	1.686425	0.00591882869419845	0.11077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	3.13	0.35090	2.856000	0.48040	2.831000	0.35021	0.599000	0.40250	0.998000	0.41325	0.698000	0.26216	0.988000	0.63387	0.0:0.6445:0.2198:0.1356	4.939	0.13305	419	0.81524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	12453.11	293	chr1	15929667	.	C	T	12453.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=6.19;DP=5124;ExcessHet=0.1072;FS=3.263;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=0.050;SOR=0.938	GT:AD:DP:GQ:PL	0/1:250,206:456:99:5585,0,6205	19	0	2	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	0/1:495,95:590:99:1508,0,14239	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	0/1:680,101:781:99:777,0,19197	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|1:680,107:787:99:0|1:16564107_T_G:2384,0,27991:16564107	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|1:665,107:772:99:0|1:16564107_T_G:2388,0,27414:16564107	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	0/1:394,186:580:99:4214,0,12690	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	0/1:409,145:554:99:3013,0,13793	1	0	20	0
chr1	16585649	16585649	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	444	1072	6	0	0	6	0.0027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0132	0.0064	0.0087	0.0063	0.0178	0.0172	0.0154	0.0063	3.84e-05	1	26028	rs758865423	0.0004	0.0031	0.0004	0.0004	0.0021	0.0004	0.0004	0.0010	0.0008	0.0002	4.516e-05	0.0002	0.0002	0.0002	0.0021	0.0005	0.0003	0.0003	0.0001	0.0006	0.0002	5.375e-05	0.0002	7.578e-05	6.282e-05	0.0001	8.889e-05	4.809e-05	0	6.54e-05	0	0	9.429e-05	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1015.11	143	chr1	16585649	.	G	A	1015.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.90;DP=3017;ExcessHet=0.1072;FS=1.823;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=36.53;MQRankSum=1.83;QD=2.54;ReadPosRankSum=0.597;SOR=0.931	GT:AD:DP:GQ:PL	0/1:224,24:248:99:123,0,6228	19	0	2	0
chr1	16591991	16591991	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	383	1060	79	0	0	79	0.0359254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0129792	0.0297	0.0079	0.0171	0.0005	0.0368	0.0429	0.0268	0.0118	0.0239389	3701	154602	rs199564458	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	2.238e-05	3.831e-05	0	0	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.003590405	0.00065	T	.	.	.	.	.	.	.	.	.	0.05074882340970097	0.05016	.	.	0.617227673531	0.55337	T	.	.	.	-0.342333	0.05228	T	-0.729514	0.04349	T	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-7.512	0.57695	D	.	.	0.081	0.08465	B	.;.	.;.	-0.110497	0.03581	0.696	0.68576904222900414	0.08701	0.00301	0.01603	N	AEFDBHCIJ	0.037390	0.05136	N	.	.	.	.	.	.	0.99999989870109	0.74766	0.205481	0.04072	1	0.188433	0.04229	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-1.13	0.09274	-3.599000	0.00468	-6.832000	0.01295	-4.637000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1619.68	818	chr1	16591991	.	C	T	1619.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.34;DP=7507;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=56.14;MQRankSum=-1.550e+00;QD=0.81;ReadPosRankSum=-6.030e-01;SOR=0.640	GT:AD:DP:GQ:PL	0/1:565,86:651:99:647,0,14544	18	0	3	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	0/1:316,85:401:99:1443,0,8752	12	0	9	0
chr1	16758952	16758952	G	A	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon10:c.C1244T:p.P415L,	.	.	333	1136	53	0	0	53	0.0227957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	B	0.015	B	0.591	N	.	.	.	.	.	.	-1.000	T	0.058	T	0.188	0.530	6.869	.	-0.000	1.307	5.818	0.050	.	.	.	0.0252	0.0141	0.0169	0	0.0352	0.0336	0.0278	0.0134	0.0211511	3270	154602	rs202225848	0.0008	0.0071	0.0008	0.0008	0.0009	0.0008	0.0007	0.0009	0.0009	0.0003	0.0003	0.0004	0	0.0003	0.0005	0.0009	0.0006	0.0007	0.0021	0.0095	0.0020	0.0022	0.0031	0.0019	0.0018	0.0024	0.0021	0.0006	0.0023	0.0031	0.0024	0	0.0047	0	0.0025	0.0025	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	101.0	541	chr1	16758952	.	G	A	101.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.380e-01;DP=10480;ExcessHet=0.0000;FS=5.893;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=48.90;MQRankSum=-2.328e+00;QD=0.17;ReadPosRankSum=-3.040e-01;SOR=1.249	GT:AD:DP:GQ:PL	0/1:544,68:612:99:115,0,17500	20	0	1	0
chr1	16759377	16759377	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon8:c.T949C:p.W317R,	.	.	399	1097	25	1	0	27	0.0121567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.002	N	.	.	.	.	.	.	-1.006	T	0.026	T	0.088	-1.910	0.008	.	-0.000	1.935	2.124	0.133	.	.	.	0.0065	0.0094	0.0043	0.0021	0.0065	0.0062	0.0037	0.0104	0.000461	12	26028	rs1806514	0.0001	0.0022	9.6e-05	0.0001	0.0004	9.186e-05	8.712e-05	0.0002	0.0002	0.0004	6.771e-05	7.747e-05	0.0002	7.612e-05	0.0002	9.597e-05	0.0002	8.16e-05	0.0007	0.0055	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0010	0.0012	0.0009	0	0	0.0006	0	0.0005	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	349.12	123	chr1	16759377	.	A	G	349.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.33;DP=2661;ExcessHet=0.1072;FS=7.810;InbreedingCoeff=-0.0498;MLEAC=2;MLEAF=0.048;MQ=54.31;MQRankSum=-8.349e+00;QD=0.83;ReadPosRankSum=-1.964e+00;SOR=1.492	GT:AD:DP:GQ:PL	0/1:181,20:201:21:21,0,4756	19	0	2	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26,	.	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	13930.12	129	chr1	16759590	.	G	GC	13930.12	.	AC=26;AF=0.619;AN=42;BaseQRankSum=5.56;DP=1816;ExcessHet=4.5793;FS=24.066;InbreedingCoeff=-0.2117;MLEAC=26;MLEAF=0.619;MQ=45.00;MQRankSum=-3.164e+00;QD=9.41;ReadPosRankSum=-3.895e+00;SOR=1.240	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1338,117,0	2	7	12	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H,	.	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.001	D	.	.	.	.	.	.	-0.445	T	0.276	T	0.209	2.959	15.86	.	0.502	5.217	6.740	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	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	0.1905	3282.72	39	chr1	16760446	.	C	T	3282.72	.	AC=8;AF=0.190;AN=42;BaseQRankSum=2.49;DP=5013;ExcessHet=3.5521;FS=14.600;InbreedingCoeff=-0.2395;MLEAC=8;MLEAF=0.190;MQ=45.78;MQRankSum=-1.759e+00;QD=1.55;ReadPosRankSum=-3.770e-01;SOR=2.106	GT:AD:DP:GQ:PL	0/1:297,67:364:99:992,0,7687	13	0	8	0
chr1	19243991	19243991	G	A	exonic	EMC1	.	nonsynonymous SNV	EMC1:NM_001271427:exon3:c.C245T:p.T82M	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	216792	Inborn_genetic_diseases|not_specified|Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation%3B|not_provided|EMC1-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0014811,MedGen:C4225172,OMIM:616875|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.13	T	0.994	D	0.828	P	0.000	D	1.000	D	1.5	L	0.89	T	-0.931	T	0.172	T	0.369	4.428	23.5	5.08	2.873	4.740	15.580	0.148	0.0121936954801	.	.	.	.	.	.	.	.	.	.	.	.	.	rs869320625	2.189e-05	2.189e-05	2.45e-05	1.925e-05	2.698e-05	1.584e-05	1.356e-05	1.914e-05	1.661e-05	0	0	0	0	0	0	2.698e-05	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.50676	D	0.186	0.28860	T	0.988	0.66517	D	0.828	0.59497	P	0.000006	0.62929	D	0.143658	0.996625	0.81001	D	1.67	0.42885	L	0.89	0.45636	T	-1.18	0.31576	N	0.816	0.81162	-0.9312	0.43963	T	0.172	0.51484	T	10	0.7221659	0.73735	D	0.012194	0.30540	T	0.148	0.39182	.	.	0.77875509527	0.77672	0.46665215934089405	0.46584	0.97207340511	0.73401	0.499712109566	0.38788	T	0.015148	0.12759	T	-0.151847	0.28022	T	-0.35904	0.38163	T	0.768307268619537	0.44338	D	0.966103	0.87544	D	0.048998058	0.08630	0.061029535	0.11720	0.05895431	0.11923	0.061029535	0.11720	-7.445	0.57243	T	.	.	0.089	0.25462	B	.;.	.;.	4.771348	0.77247	26.7	0.99878478987883057	0.95491	0.97402	0.74521	D	AEFBI	0.477328	0.52036	N	0.599481369089772	0.73143	5.918114	0.636163549955684	0.77583	6.707588	0.974983052718382	0.29592	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	5.08	0.68373	4.929000	0.63156	8.532000	0.77460	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:0.1379:0.862:0.0	15.580	0.76171	754	0.51307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1347.98	37	chr1	19243991	.	G	A	1347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.470e-01;DP=862;ExcessHet=0.0000;FS=4.143;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=-1.140e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/1:74,60:134:99:1362,0,1830	20	0	1	0
chr1	21887447	21887447	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon8:c.G931A:p.E311K	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	3166520	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.480	N	1.000	N	0.225	N	-3.69	D	-0.243	T	0.618	D	0.348	-1.072	0.170	-0.024	0.287	-0.928	8.236	0.352	0.0186821916866	.	.	8.265e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs200992640	8.893e-06	8.893e-06	9.53e-06	8.251e-06	1.079e-05	4.96e-06	3.82e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.656e-05	0	6.57e-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	0.806	0.03068	T	0.888	0.03152	T	0.0	0.02946	B	0.0	0.01387	B	0.480481	0.04978	N	1.376210	1	0.08975	N	-0.085	0.04774	N	-3.69	0.95317	D	0.28	0.04233	N	0.102	0.08506	-0.2433	0.76540	T	0.618	0.86535	D	10	0.054083526	0.05703	T	0.018682	0.40822	T	0.352	0.67326	0.491	0.57732	0.426084969639	0.42228	0.28324127350891165	0.28237	0.225619827505	0.25111	0.231754183769	0.02101	T	0.308387	0.68048	T	-0.0822328	0.39352	T	-0.18677	0.55893	T	0.0125637296587229	0.00209	T	0.788921	0.42853	T	0.04890592	0.08599	0.04576617	0.06232	0.04890592	0.08599	0.04576617	0.06231	-7.351	0.56558	T	.	.	0.060	0.00904	B	.	.	0.404490	0.07755	4.440	0.52620086053490323	0.04782	0.05690	0.11609	N	AEFDBCI	0.019896	0.00734	N	-1.36308495391848	0.02992	0.1329453	-1.29019578717665	0.04562	0.2154723	0.998196650023082	0.36560	0.67177	0.52595	0	0.633656	0.55848	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.09	-0.0238	0.13267	-0.780000	0.04759	-0.314000	0.10017	-0.167000	0.11441	0.000000	0.06391	0.000000	0.08366	0.572000	0.30699	0.0:0.3433:0.0:0.6567	8.236	0.30787	775	0.48401	Low-density lipoprotein (LDL) receptor class A, conserved site|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	2400.98	35	chr1	21887447	.	C	T	2400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.22;ReadPosRankSum=-1.097e+00;SOR=0.727	GT:AD:DP:GQ:PL	0/1:59,89:148:99:2415,0,1371	20	0	1	0
chr1	21983722	21983722	C	T	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon5:c.C391T:p.R131C,	.	.	425	1085	12	0	0	12	0.00549954	.	.	718664	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.823	P	0.100	N	1.000	N	1.965	M	-2.51	D	-0.244	T	0.468	T	0.712	1.792	11.95	2.43	0.355	-0.466	10.963	0.532	.	0.0011	0.0173722	0.0096	0.0010	0.0008	0.0251	0.0002	0.0004	0.0133	0.0540	0.0082923	1282	154602	rs149805485	0.0042	0.0042	0.0027	0.0058	0.0533	0.0041	0.0041	0.0520	0.0514	0.0008	0.0003	0	0.0204	7.489e-05	0.0038	0.0003	0.0055	0.0533	0.0031	0.0031	0.0022	0.0041	0.0567	0.0029	0.0028	0.0512	0.0490	0.0011	0	0.0004	0	0.0247	0	0.0034	0.0002	0.0024	0.0567	0.019	0.50132	D	0.028	0.54934	D	1.0	0.90584	D	0.823	0.59197	P	0.100394	0.19889	N	0.488930	0.999999	0.08975	N	2.59	0.75718	M	-2.51	0.89293	D	-5.75	0.87760	D	0.464	0.50056	-0.2436	0.76532	T	0.468	0.79476	T	10	0.003702402	0.00068	T	.	.	.	0.532	0.80307	.	.	0.399889258716	0.39604	0.6047300115706986	0.60404	0.738108888405	0.63096	0.457349479198	0.32947	T	0.41845	0.77079	T	-0.211407	0.19182	T	-0.0369708	0.67906	D	0.0491754289312339	0.05354	T	0.918108	0.70532	D	0.19427396	0.41170	0.27008674	0.52896	0.19427396	0.41170	0.27008674	0.52895	-10.02	0.74032	D	.	.	0.415	0.60399	A	.;.	.;.	3.340982	0.46033	22.2	0.99582197117975779	0.73099	0.06319	0.12316	N	AEFBI	0.240755	0.36248	N	-0.389966078087591	0.25826	1.40482	-0.597886246141452	0.19547	1.04929	1.53145191743026E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.42	2.43	0.28797	-0.359000	0.07683	0.703000	0.20862	-1.365000	0.01177	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.3509:0.6491:0.0:0.0	10.963	0.46608	772	0.48957	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6259.11	108	chr1	21983722	.	C	T	6259.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=3028;ExcessHet=0.1072;FS=1.754;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=49.99;MQRankSum=-3.390e-01;QD=14.10;ReadPosRankSum=-2.600e-02;SOR=0.562	GT:AD:DP:GQ:PL	0/1:93,109:202:99:2662,0,2236	19	0	2	0
chr1	22511813	22511813	A	C	exonic	ZBTB40	.	nonsynonymous SNV	ZBTB40:NM_001330398:exon9:c.A1804C:p.T602P	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.001	B	0.990	N	1.000	N	0.695	N	-0.94	T	-0.933	T	0.189	T	0.074	2.095	12.96	-7.03	-1.235	-0.015	9.161	0.153	0.0147998039284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.18434	T	0.126	0.36765	T	0.0	0.02946	B	0.001	0.04355	B	0.989794	0.08038	N	0.994717	1	0.08975	N	0.55	0.14455	N	-0.94	0.75325	T	-1.2	0.32791	N	0.103	0.15046	-0.9333	0.43650	T	0.189	0.54064	T	10	0.044253767	0.03361	T	0.015	0.35150	T	0.153	0.40148	0.116	0.02439	0.379193981924	0.37526	0.14638626159737997	0.14560	0.150298648537	0.16954	0.278579056263	0.07295	T	0.024018	0.18227	T	-0.223312	0.17542	T	-0.558548	0.16513	T	0.0359694212675095	0.02976	T	0.462854	0.13445	T	0.074280046	0.16658	0.09294639	0.21929	0.074280046	0.16658	0.09294639	0.21929	-3.297	0.13698	T	.	.	0.070	0.12181	B	.;.;.	.;.;.	1.257594	0.16549	12.61	0.28703041354361669	0.01487	0.14688	0.18534	N	AEFBI	0.183408	0.31073	N	-1.37546185883262	0.02869	0.1273322	-1.45491284814855	0.02726	0.1259007	0.0252566081396356	0.13636	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.73	-7.03	0.01428	-0.177000	0.09789	-0.042000	0.12656	-0.095000	0.16041	0.019000	0.19563	0.000000	0.08366	0.228000	0.22680	0.2375:0.3156:0.4469:0.0	9.161	0.36185	858	0.34001	.;.;.	.	.	.	.	.	Uncertain significance	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	1654.98	37	chr1	22511813	.	A	C	1654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.360e-01;DP=855;ExcessHet=0.0000;FS=0.626;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-2.743e+00;SOR=0.633	GT:AD:DP:GQ:PL	0/1:68,70:138:99:1669,0,1677	20	0	1	0
chr1	22953111	22953111	C	T	exonic	LACTBL1	.	nonsynonymous SNV	LACTBL1:NM_001289974:exon8:c.G1672A:p.D558N,	.	.	474	1042	6	0	0	6	0.00287081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0063	0	0	0	0.0427	0.0033	0.0625	0	0.0006145	95	154602	rs183423016	0.0044	0.0033	0.0045	0.0044	0.0047	0.0043	0.0043	0.0046	0.0046	0.0006	0.0021	0.0016	0	0.0095	0.0031	0.0047	0.0029	0.0006	0.0033	0.0033	0.0030	0.0036	0.0044	0.0031	0.0030	0.0040	0.0038	0.0008	0	0.0018	0.0003	0	0.0125	0.0034	0.0044	0.0024	0.0004	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	2.16	0.60381	M	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.008165479	0.00185	T	.	.	.	.	.	.	.	0.39694197178	0.39312	0.6323432629744559	0.63168	.	.	.	.	.	0.004782	0.04195	T	-0.501457	0.00561	T	-0.49158	0.23225	T	.	.	.	0.936106	0.76057	D	0.11265751	0.26614	0.28331494	0.54324	0.11265751	0.26613	0.28331494	0.54323	-3.972	0.23383	T	.	.	0.673	0.71868	P	.;.	.;.	4.717928	0.75867	26.4	0.86755802676307481	0.16751	0.97941	0.78296	D	AEFDBI	0.605307	0.59607	D	.	.	.	.	.	.	0.999511076539664	0.40117	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.67	3.68	0.41359	5.477000	0.66525	5.489000	0.48743	0.505000	0.23025	1.000000	0.71638	1.000000	0.68203	0.270000	0.23768	0.0:0.8232:0.1767:0.0	11.964	0.52315	781	0.47532	.;.	.	.	.	.	.	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	3555.11	37	chr1	22953111	.	C	T	3555.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.028;DP=945;ExcessHet=0.1072;FS=0.966;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.457;SOR=0.788	GT:AD:DP:GQ:PL	0/1:50,67:117:99:1676,0,1210	19	0	2	0
chr1	25837515	25837516	GG	-	exonic	AUNIP	.	frameshift deletion	AUNIP:NM_001287490:exon2:c.117_118del:p.L40Sfs*7	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	0	0	0	0.0002	0.0004	0	6.061e-05	0.0002005	31	154602	rs762902706	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0002	2.236e-05	0.0008	0	0.0004	0	0.0008	0.0007	0.0002	0.0005	0.0005	0.0006	0.0004	0.0010	0.0004	0.0004	0.0008	0.0008	0.0002	0	0.0001	0.0009	0	9.411e-05	0	0.0010	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	750.94	33	chr1	25837514	.	AGG	A	750.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.501;DP=740;ExcessHet=0.0000;FS=6.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=0.183;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,20:45:99:0|1:25837514_AGG_A:765,0,990:25837514	20	0	1	0
chr1	25837518	25837518	G	-	exonic	AUNIP	.	frameshift deletion	AUNIP:NM_001287490:exon2:c.115delC:p.L39Sfs*65	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	0	0	0	0.0002	0.0004	0	6.061e-05	1.29e-05	2	154602	rs761229800	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0002	2.237e-05	0.0008	0	0.0004	0	0.0008	0.0007	0.0002	0.0005	0.0005	0.0006	0.0004	0.0010	0.0005	0.0004	0.0008	0.0008	0.0002	0	0.0001	0.0009	0	9.414e-05	0	0.0010	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	750.94	33	chr1	25837517	.	AG	A	750.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.823;DP=739;ExcessHet=0.0000;FS=6.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=0.023;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,20:45:99:0|1:25837514_AGG_A:765,0,990:25837514	20	0	1	0
chr1	26058484	26058484	A	T	exonic	TRIM63	.	nonsynonymous SNV	TRIM63:NM_032588:exon5:c.T737A:p.I246N,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.207	B	0.106	B	0.000	D	0.983	D	2.215	M	0.89	T	-1.001	T	0.112	T	0.506	2.353	13.83	3.15	0.369	1.991	7.353	0.200	0.0259062497016	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs751834690	4.788e-05	4.788e-05	3.947e-05	5.638e-05	0.0003	3.86e-05	3.54e-05	0.0001	0.0001	2.987e-05	0	0	0	0	0.0003	4.047e-05	4.967e-05	0.0002	3.943e-05	3.94e-05	2.57e-05	5.381e-05	0.0002	1.716e-05	1.13e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0.0002	0.048	0.40068	D	0.057	0.46406	T	0.207	0.29891	B	0.106	0.31143	B	0.000010	0.62929	D	0.149749	0.982539	0.39903	D	2.215	0.62545	M	0.89	0.45636	T	-3.16	0.64246	D	0.786	0.78262	-1.0011	0.29602	T	0.112	0.40075	T	10	0.64110816	0.69062	D	0.025906	0.48854	D	0.200	0.48430	0.502	0.59460	0.395289904662	0.39143	0.7605954958857244	0.76007	0.657483067834	0.58699	0.639129638672	0.58441	T	0.715226	0.91908	D	-0.282996	0.10352	T	-0.352132	0.38960	T	0.289428681135178	0.24566	T	0.776522	0.40874	T	0.5796899	0.71592	0.33347118	0.59183	0.5796899	0.71593	0.33347118	0.59183	-9.859	0.73063	D	.	.	0.225	0.45702	B	.	.	3.154724	0.42722	21.6	0.97486123199336694	0.34214	0.88036	0.47792	D	AEFGBI	0.410139	0.48113	N	-0.238672972915784	0.31558	1.770739	-0.148059369265145	0.33482	1.915774	0.987068973636989	0.31178	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.5	3.15	0.35301	1.989000	0.40328	4.736000	0.44580	-0.054000	0.16847	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.8005:0.0:0.0709:0.1286	7.353	0.25873	720	0.55521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1239.98	34	chr1	26058484	.	A	T	1239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.940e-01;DP=789;ExcessHet=0.0000;FS=1.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.600;SOR=0.869	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1254,0,1304	20	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33415.17	33	chr1	26282323	.	A	G,*	33415.17	.	AC=30,8;AF=0.714,0.190;AN=42;BaseQRankSum=0.532;DP=976;ExcessHet=0.6776;FS=0.923;InbreedingCoeff=-0.1053;MLEAC=30,8;MLEAF=0.714,0.190;MQ=60.00;MQRankSum=0.00;QD=31.59;ReadPosRankSum=-6.110e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,22,6:28:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1156,252,186,880,0,856:26282320	0	9	4	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9122.57	35	chr1	26282334	.	TGGGGCCG	*,T	9122.57	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=0.857;DP=1017;ExcessHet=1.5101;FS=6.482;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-6.330e-01;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,6,23:29:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1204,958,948,252,0,183:26282320	8	0	0	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9155.21	37	chr1	26282344	.	ACCGGGACCGGGACTGGG	*,A	9155.21	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=1.27;DP=1066;ExcessHet=1.5101;FS=6.447;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-2.630e-01;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,6,23:29:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1202,958,990,249,0,180:26282320	8	0	0	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	11163.93	50	chr1	26282357	.	CTGGGGCCGGG	C,*	11163.93	.	AC=10,16;AF=0.238,0.381;AN=42;BaseQRankSum=0.187;DP=1169;ExcessHet=10.5502;FS=6.433;InbreedingCoeff=-0.4135;MLEAC=10,16;MLEAF=0.238,0.381;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.857;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,23:29:69:1|1:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1022,1028,1051,69,72,0:26282320	1	0	7	0
chr1	27332098	27332098	C	T	exonic	TMEM222	.	nonsynonymous SNV	TMEM222:NM_032125:exon3:c.C308T:p.A103V,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.0	B	0.002	B	0.002	N	0.754	N	0.41	N	.	.	-1.063	T	0.057	T	0.427	2.325	13.73	3.62	1.472	2.090	7.102	0.150	0.00156299132547	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs139728654	4.104e-06	4.104e-06	4.084e-06	4.125e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.993e-07	4.967e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.28026	T	0.275	0.22761	T	0.0	0.02946	B	0.002	0.06944	B	0.001845	0.37840	N	0.297439	0.753868	0.29610	N	0.245	0.09735	N	.	.	.	-0.57	0.17417	N	0.303	0.34228	-1.0633	0.10950	T	0.057	0.23866	T	9	0.20928231	0.37285	T	0.001563	0.02471	T	0.150	0.39571	.	.	0.241078983079	0.23725	0.5804440348877591	0.57973	0.332720288705	0.35319	0.544475197792	0.45078	T	0.040032	0.25393	T	-0.057566	0.43286	T	-0.320466	0.42524	T	0.2146901740664	0.21195	T	0.807219	0.71908	T	0.02531691	0.01457	0.06087116	0.11664	0.02531691	0.01457	0.06087116	0.11664	-3.854	0.21614	T	.	.	0.127	0.36275	B	.;.;.;.;.;.	.;.;.;.;.;.	2.796809	0.36783	20.3	0.96920574873995491	0.31617	0.84558	0.43641	D	AEFBI	0.253612	0.37307	N	-0.278093749289238	0.29995	1.668494	-0.0730372287814144	0.36509	2.125614	0.965940508322886	0.28867	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.81	3.62	0.40616	2.164000	0.42013	2.163000	0.30996	-0.178000	0.10482	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.6827:0.0:0.3173	7.102	0.24523	451	0.79296	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1556.98	33	chr1	27332098	.	C	T	1556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.488;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.357;SOR=0.694	GT:AD:DP:GQ:PL	0/1:75,63:138:99:1571,0,1925	20	0	1	0
chr1	35746954	35746954	G	T	exonic	CLSPN	.	nonsynonymous SNV	CLSPN:NM_001190481:exon14:c.C2474A:p.A825D	.	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.41	B	0.07	B	0.013	N	0.730	D	1.01	L	1.73	T	-1.025	T	0.051	T	0.071	3.192	16.69	5.17	1.574	4.322	16.838	0.040	0.00764341559897	.	0.000599042	7.413e-05	0	0	0	0	0	0	0.0005	7.76e-05	12	154602	rs534927658	3.626e-05	3.625e-05	2.45e-05	4.813e-05	0.0009	2.828e-05	2.565e-05	0.0003	0.0002	5.974e-05	0	0	0	0	0.0009	6.295e-06	9.935e-05	0.0004	4.597e-05	4.593e-05	5.14e-05	4.028e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	4.812e-05	0	0	0	0	0	0	0	0	0.0010	0.061	0.61437	T	0.222	0.34477	T	0.256	0.35064	B	0.058	0.27859	B	0.012656	0.29101	N	0.406109	0.730193	0.33710	D	0.805	0.20218	L	1.68	0.27184	T	-1.78	0.43149	N	0.167	0.19995	-1.0254	0.21952	T	0.051	0.21728	T	10	0.020097435	0.00458	T	0.007643	0.20272	T	0.040	0.10527	0.22	0.14224	0.102598925029	0.09809	0.20164741232760422	0.20081	0.138008884758	0.15561	0.38619530201	0.23132	T	0.018607	0.14973	T	-0.505654	0.00531	T	-0.60332	0.12534	T	0.0444744267734707	0.04506	T	0.671533	0.28809	T	0.22756429	0.45460	0.3683398	0.62126	0.22756429	0.45460	0.3683398	0.62125	-3.939	0.22888	T	.	.	0.098	0.21428	B	.;.;.;.	.;.;.;.	3.318068	0.45624	22.2	0.99252396540917254	0.56924	0.96824	0.71137	D	AEFDBI	0.437166	0.49708	N	0.0574567241906632	0.44486	2.721787	0.216023813836379	0.50737	3.262537	0.998677923555027	0.37434	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	6.09	5.17	0.70848	4.866000	0.62702	6.917000	0.56917	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8703:0.1297	16.838	0.85827	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	0	0	0	0	0.02381	2814.98	34	chr1	35746954	.	G	T	2814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.378e+00;DP=927;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=1.21;SOR=0.657	GT:AD:DP:GQ:PL	0/1:91,116:207:99:2829,0,2280	20	0	1	0
chr1	36178424	36178424	G	T	exonic	MAP7D1	.	nonsynonymous SNV	MAP7D1:NM_001286365:exon9:c.G1603T:p.A535S	.	.	411	1106	5	0	0	5	0.0022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.649	P	0.275	B	0.002	N	1.000	D	0.69	N	3.63	T	-0.995	T	0.022	T	0.147	1.994	12.63	2.59	1.152	2.240	9.024	0.041	0.00880160566495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.744e-06	2.736e-06	0	5.518e-06	0.0004	6.4e-07	4.3e-07	7.056e-05	2.942e-05	0	0	0	0	0	0.0004	9.001e-07	1.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.34621	T	0.363	0.18125	T	0.419	0.40609	B	0.275	0.40079	B	0.001694	0.38271	N	0.000000	1	0.81001	D	1.79	0.46772	L	2.64	0.12780	T	-1.01	0.28906	N	0.218	0.24385	-0.9949	0.31326	T	0.022	0.09238	T	10	0.10526258	0.19447	T	0.008802	0.23221	T	0.041	0.10877	0.175	0.08135	0.161926535498	0.15789	0.1592408061750861	0.15845	0.431555471661	0.43355	0.425890386105	0.28647	T	0.006707	0.06137	T	-0.237887	0.15619	T	-0.579484	0.14592	T	0.210925922063062	0.21001	T	0.848715	0.53056	T	0.079965174	0.18299	0.0939751	0.22222	0.079965174	0.18298	0.0939751	0.22221	-3.861	0.21794	T	.	.	0.085	0.10062	B	.;.;.	.;.;.	2.910457	0.38601	20.8	0.98677189039939472	0.44554	0.85996	0.45198	D	AEFDBCI	0.145189	0.26834	N	-0.397833627590146	0.25546	1.387534	-0.382412573233495	0.25522	1.404013	0.999973243865281	0.50053	0.72623	0.87236	0	0.702456	0.74545	0	0.594344	0.31042	0	0.711	0.71501	0	.	.	4.68	2.59	0.30091	1.091000	0.30526	3.192000	0.36708	0.676000	0.76740	0.208000	0.24400	1.000000	0.68203	0.354000	0.25750	0.0963:0.1568:0.7469:0.0	9.024	0.35380	152	0.94023	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	692.98	33	chr1	36178424	.	G	T	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.020e-01;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=1.33;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,20:64:99:0|1:36178424_G_T:707,0,1787:36178424	20	0	1	0
chr1	36178425	36178425	C	T	exonic	MAP7D1	.	nonsynonymous SNV	MAP7D1:NM_001286365:exon9:c.C1604T:p.A535V	.	.	412	1105	5	0	0	5	0.00225734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.787	P	0.275	B	0.002	N	1.000	D	0.69	N	3.77	T	-1.080	T	0.028	T	0.28	3.472	17.77	4.68	2.429	4.227	16.315	0.059	0.00952563922711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.058e-06	2.736e-06	0	4.138e-06	0.0004	5.5e-07	1.5e-07	7.048e-05	2.939e-05	0	0	0	0	0	0.0004	0	1.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.57480	D	0.14	0.34959	T	0.59	0.44504	P	0.275	0.40079	B	0.001694	0.38271	N	0.000000	0.550373	0.81001	D	1.79	0.46772	L	2.54	0.13916	T	-1.57	0.42575	N	0.138	0.13626	-1.0796	0.07426	T	0.028	0.11882	T	10	0.13770357	0.26194	T	0.009526	0.24947	T	0.059	0.16972	0.249	0.18602	0.102598925029	0.09809	0.19402327189147608	0.19320	0.526218639335	0.50253	0.45193707943	0.32209	T	0.013469	0.11642	T	-0.172023	0.24929	T	-0.484876	0.23930	T	0.816351711750031	0.47504	D	0.885211	0.61002	D	0.1693656	0.37448	0.17590159	0.40087	0.1693656	0.37448	0.17590159	0.40087	-5.237	0.39774	T	.	.	0.090	0.12702	B	.;.;.	.;.;.	3.816944	0.55095	23.6	0.99871579071747996	0.94902	0.93919	0.59572	D	AEFDBCI	0.481727	0.52290	N	-0.0832575852697836	0.38127	2.228298	-0.0575215193603278	0.37165	2.172503	0.999999999997304	0.74766	0.72623	0.87236	0	0.702456	0.74545	0	0.594344	0.31042	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	3.465000	0.52828	4.795000	0.44928	0.599000	0.40250	0.248000	0.24829	1.000000	0.68203	0.359000	0.25863	0.0:1.0:0.0:0.0	16.315	0.82749	152	0.94023	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	692.98	33	chr1	36178425	.	C	T	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.382;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=1.23;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,20:64:99:0|1:36178424_G_T:707,0,1787:36178424	20	0	1	0
chr1	39310999	39310999	A	G	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon25:c.A3284G:p.E1095G,	.	.	430	1086	6	0	0	6	0.00275482	0.8309	0.846	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.979	D	.	.	1.000	D	2.135	M	-0.08	T	0.763	D	0.800	D	0.848	4.926	28.5	5.64	2.149	9.274	15.873	0.662	0.23801608769	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1008774166	5.483e-06	5.472e-06	2.727e-06	8.267e-06	0.0007	2.36e-06	1.71e-06	0.0002	0.0001	0	0	0	0	0	0.0007	2.7e-06	0	1.165e-05	6.568e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.048	0.76473	D	0.907	0.50062	P	0.574	0.49998	P	.	.	.	.	0.944403	0.41895	D	.	.	.	-0.29	0.88533	T	-6.43	0.93366	D	0.524	0.59053	0.763	0.93952	D	0.800	0.93248	D	9	0.7536801	0.75823	D	0.238016	0.88569	D	0.662	0.87381	0.261	0.20473	0.86476991348	0.86345	0.26161540624014595	0.26074	.	.	0.509648442268	0.40174	T	0.172124	0.88079	T	0.38793	0.89203	D	0.319458	0.89067	D	0.988248679572791	0.78603	D	0.959604	0.87634	D	0.4489126	0.63972	0.6944314	0.82011	0.4489126	0.63972	0.6944314	0.82012	-8.965	0.67659	D	.	.	0.252	0.48654	B	.;.;.;.;.;.	.;.;.;.;.;.	4.405645	0.68111	25.2	0.99916924930059536	0.98449	0.99886	0.99947	D	AEFBI	0.917979	0.88639	D	0.767122628802243	0.84016	8.171224	0.763115421097482	0.87136	9.118418	0.999999988731413	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.64	5.64	0.86480	9.322000	0.95579	11.248000	0.90647	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	15.873	0.78922	570	0.70478	.;.;.;.;.;.	.	.	.	.	.	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	435.98	34	chr1	39310999	.	A	G	435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e+00;DP=681;ExcessHet=0.0000;FS=1.399;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.446;SOR=0.432	GT:AD:DP:GQ:PL	0/1:18,17:35:99:450,0,544	20	0	1	0
chr1	39511904	39511905	GG	-	exonic;splicing	BMP8A;BMP8A	.	frameshift deletion	BMP8A:NM_181809:exon3:c.673delG:p.H226Tfs*40,	.	.	546	26	383	566	1	1516	0.966816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284964917	3.274e-06	4.184e-06	2.207e-06	4.319e-06	3.209e-05	8.7e-07	2.4e-07	5.1e-07	1.9e-07	0	3.209e-05	0	0	0	0	3.046e-06	0	0	9.616e-06	1.344e-05	0	2.033e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	7775.32	8	chr1	39511903	.	CGG	TGG,C	7775.32	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=2.52;DP=302;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2724;MLEAC=32,1;MLEAF=0.762,0.024;MQ=26.98;MQRankSum=0.00;QD=26.63;ReadPosRankSum=0.072;SOR=3.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,6,0:13:99:.:.:151,0,183,173,201,374	0	12	8	0
chr1	40307755	40307755	C	A	exonic	COL9A2	.	nonsynonymous SNV	COL9A2:NM_001852:exon18:c.G902T:p.G301V,	Epiphyseal dysplasia, multiple, 2, Autosomal dominant	.	0	225	1	0	0	1	0.00221729	0.0193	0.08	1486100	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.964	D	0.784	P	0.000	D	1.000	D	4.09	H	-6.29	D	1.002	D	0.989	D	0.853	2.149	13.14	5.64	2.666	5.340	17.191	0.887	0.772824508068	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372191928	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.964	0.55854	D	0.784	0.57456	P	0.000000	0.84330	D	0.047985	1	0.81001	D	4.495	0.98962	H	-6.29	0.99632	D	-7.58	0.95276	D	0.873	0.87049	1.002	0.97223	D	0.989	0.99701	D	10	0.99255085	0.99791	D	0.772825	0.98205	D	0.887	0.96725	0.869	0.96265	0.973521263946	0.97323	0.9417514987636503	0.94156	1.00163694838	0.74428	0.717937231064	0.69746	T	0.401803	0.75900	T	0.496798	0.94191	D	0.475839	0.94114	D	0.999542832374573	0.97846	D	0.989957	0.96858	D	0.9298715	0.94224	0.8306375	0.90226	0.9298715	0.94225	0.8306375	0.90226	-14.464	0.94467	D	.	.	0.640	0.70507	P	.	.	3.723659	0.53221	23.3	0.97556424223569482	0.34598	0.98706	0.85820	D	AEFDBI	0.762252	0.69972	D	0.785788468520018	0.85207	8.508282	0.667844402789374	0.79948	7.191116	0.999995534054997	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.64	5.64	0.86480	5.410000	0.66123	7.572000	0.60737	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.112000	0.18829	0.0:1.0:0.0:0.0	17.191	0.86761	413	0.81939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1346.98	35	chr1	40307755	.	C	A	1346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.574;DP=818;ExcessHet=0.0000;FS=0.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.20;ReadPosRankSum=-1.065e+00;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,37:74:99:0|1:40307755_C_A:1361,0,1433:40307755	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|1:6,6,0:12:99:0|1:41382209_C_CGGGACGCCCGCCTACTTCGGCGGCTG:234,0,234,252,252,504:41382209	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|1:6,6,0:12:99:0|1:41382209_C_CGGGACGCCCGCCTACTTCGGCGGCTG:234,0,234,252,252,504:41382209	19	0	1	0
chr1	43156285	43156285	G	A	exonic	FAM183A	.	stopgain	FAM183A:NM_001101376:exon4:c.G377A:p.W126X,	.	.	.	.	.	.	.	.	.	.	.	1325538	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	N	0.980	D	.	.	.	.	.	.	.	.	.	1.153	9.695	4.07	2.568	2.512	12.070	.	.	0.0018	0.000399361	0.0009	0.0001	0.0003	0	0.0006	0.0013	0	0.0005	0.0009314	144	154602	rs149435229	0.0016	0.0016	0.0017	0.0016	0.0019	0.0016	0.0015	0.0019	0.0018	0.0002	0.0006	7.652e-05	0	0.0005	0.0003	0.0019	0.0014	0.0006	0.0012	0.0012	0.0014	0.0010	0.0024	0.0011	0.0010	0.0021	0.0020	0.0002	0	0.0002	0	0	0.0006	0	0.0024	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.40652	N	0.000000	0.980041	0.39625	D	.	.	.	.	.	.	.	.	.	0.089	0.07673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253972	0.78971	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;Low	7.648845	0.96726	36	0.97406878149552589	0.33805	0.84425	0.43507	D	AEFDGBI	0.038151	0.05356	N	0.604688180851144	0.73471	5.971443	0.395382275877115	0.61278	4.325893	0.824809765041219	0.24588	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.07	4.07	0.46726	2.644000	0.46279	4.214000	0.42550	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	12.070	0.52912	435	0.80441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1656.11	36	chr1	43156285	.	G	A	1656.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.33;DP=816;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=1.27;SOR=0.745	GT:AD:DP:GQ:PL	0/1:40,41:81:99:1070,0,948	19	0	2	0
chr1	43930190	43930190	G	A	exonic	ST3GAL3	.	nonsynonymous SNV	ST3GAL3:NM_001270462:exon8:c.G662A:p.R221H	Epileptic encephalopathy, early infantile, 15, Autosomal recessive;Mental retardation, autosomal recessive 12, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	206817	Inborn_genetic_diseases|not_specified|Early_infantile_epileptic_encephalopathy_with_suppression_bursts	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.009	B	0.012	B	0.028	N	1.000	N	.	.	1.56	T	-0.935	T	0.142	T	0.236	1.246	10.06	-2.07	-0.231	-0.055	11.032	0.021	0.0211494722741	.	0.000199681	8.238e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs572958701	3.01e-05	3.01e-05	2.042e-05	3.988e-05	0.0004	2.282e-05	2.032e-05	0.0002	0.0001	2.987e-05	2.236e-05	7.652e-05	2.519e-05	0	0.0004	1.169e-05	4.969e-05	0.0002	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	9.416e-05	0	0	0	0.0002	0.155	0.32769	T	0.069	0.50514	T	0.006	0.15093	B	0.003	0.16012	B	0.028253	0.25631	N	0.415063	1	0.20249	N	.	.	.	1.56	0.65006	T	-0.74	0.20791	N	0.232	0.26111	-0.9352	0.43364	T	0.142	0.46294	T	9	0.056435257	0.06326	T	0.021149	0.43873	T	0.021	0.04004	0.62	0.75461	0.652461687722	0.64956	.	.	0.719543112965	0.62140	0.226073414087	0.01690	T	0.097858	0.40111	T	-0.278459	0.10831	T	-0.43511	0.29355	T	0.289073288440704	0.24551	T	0.775622	0.56644	T	0.01991817	0.00534	0.026841143	0.00797	0.01991817	0.00534	0.026841143	0.00796	-4.215	0.32347	T	0.17744362050500495	0.22694	0.079	0.26042	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.039193	0.14197	10.77	0.96700769070920733	0.30773	0.03873	0.09239	N	AEFGBCIJ	0.069104	0.13663	N	-0.937332622458763	0.09978	0.474737	-0.965098834218254	0.10575	0.5334674	0.999938417842289	0.46732	0.743674	0.98306	0	0.630245	0.54622	0	0.779548	0.98927	0	0.584449	0.35598	0	.	.	4.5	-2.07	0.06873	0.040000	0.13791	-0.543000	0.08571	-0.895000	0.02364	0.000000	0.06391	0.000000	0.08366	0.647000	0.32611	0.4454:0.0:0.5546:0.0	11.032	0.46995	143	0.94301	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1539.98	38	chr1	43930190	.	G	A	1539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.454e+00;DP=886;ExcessHet=0.0000;FS=1.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-1.297e+00;SOR=0.896	GT:AD:DP:GQ:PL	0/1:52,62:114:99:1554,0,1308	20	0	1	0
chr1	46511063	46511063	T	A	exonic	DMBX1	.	nonsynonymous SNV	DMBX1:NM_147192:exon3:c.T477A:p.D159E	.	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.084	N	1.000	N	-0.145	N	-3.07	D	-0.627	T	0.393	T	0.019	-0.105	3.485	-0.24	0.087	-0.281	1.561	0.211	0.0913191228614	.	.	0.0004	0	0	0	0	0.0003	0	0.0015	0.0003105	48	154602	rs200899250	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	0	4.473e-05	0.0019	0	0	0.0012	0.0001	0.0005	0.0017	0.0002	0.0002	0.0001	0.0003	0.0015	0.0001	0.0001	0.0007	0.0005	2.406e-05	0	0.0005	0.0023	0	0	0.0034	7.35e-05	0	0.0015	0.565	0.06282	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.084077	0.20717	N	0.553031	0.999731	0.20771	N	-0.205	0.04094	N	-3.07	0.92938	D	0.11	0.05706	N	0.086	0.07673	-0.6266	0.63714	T	0.393	0.74656	T	10	0.006982118	0.00159	T	0.091319	0.75684	D	0.211	0.50185	0.158	0.06178	0.344740032716	0.34089	0.2479999156111008	0.24713	0.32656759674	0.34803	0.417535930872	0.27499	T	0.077742	0.35726	T	-0.509524	0.00505	T	-0.523687	0.19922	T	0.00951277754141228	0.00123	T	0.579842	0.22366	T	0.031391006	0.02970	0.034634586	0.02566	0.031391006	0.02969	0.034634586	0.02566	-2.896	0.09264	T	.	.	0.075	0.05360	B	.;.	.;.	0.066546	0.04760	1.382	0.74093178379257119	0.10567	0.10295	0.15841	N	AEFBI	0.121889	0.23677	N	-1.31706171184087	0.03480	0.15551	-1.22721476300897	0.05476	0.2610475	0.0132203857542701	0.12433	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.32	-0.24	0.12403	-0.262000	0.08706	-1.628000	0.05030	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.372000	0.26156	0.1386:0.4024:0.1542:0.3048	1.561	0.02438	85	0.96447	.;.	.	.	.	.	.	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	1037.98	38	chr1	46511063	.	T	A	1037.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=933;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-6.910e-01;SOR=0.606	GT:AD:DP:GQ:PL	0/1:42,40:82:99:1052,0,1006	20	0	1	0
chr1	47068677	47068677	G	T	exonic	CYP4Z1	.	nonsynonymous SNV	CYP4Z1:NM_178134:exon2:c.G233T:p.C78F,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.998	D	0.942	D	0.029	U	0.997	N	0.975	L	-0.31	T	-0.830	T	0.265	T	0.401	0.482	6.616	2.83	1.581	3.993	9.276	0.168	0.00343735832487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.691	0.04289	T	0.695	0.05825	T	0.998	0.73220	D	0.942	0.67772	D	0.029331	0.25470	U	0.305869	0.996905	0.22861	N	1.87	0.49600	L	-0.31	0.68030	T	-2.02	0.46503	N	0.426	0.46555	-0.8303	0.53282	T	0.265	0.63630	T	10	0.31479478	0.48917	T	0.003437	0.07755	T	0.168	0.42943	0.255	0.19533	0.483670899158	0.47999	0.3433297364309384	0.34245	0.0796842656283	0.08968	0.365582019091	0.20196	T	0.015771	0.13166	T	-0.0564041	0.43466	T	-0.318797	0.42706	T	0.649656653404236	0.38447	D	0.158684	0.01414	T	0.19412911	0.41151	0.14794268	0.34991	0.19412911	0.41151	0.14794268	0.34990	-3.807	0.20909	T	.	.	0.135	0.29255	B	.	.	2.814133	0.37057	20.4	0.82719912944435248	0.14339	0.90590	0.51892	D	AEFGBI	0.256679	0.37556	N	0.0156972215958806	0.42570	2.567372	-0.0814783398956545	0.36155	2.100578	1.81307151160965E-4	0.05844	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.83	2.83	0.32150	2.819000	0.47749	3.158000	0.36555	0.487000	0.22268	0.995000	0.38783	0.964000	0.29435	0.017000	0.10941	0.0:0.0:1.0:0.0	9.276	0.36859	445	0.79730	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1214.98	33	chr1	47068677	.	G	T	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.610e-01;DP=811;ExcessHet=0.0000;FS=2.334;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=-3.110e-01;SOR=0.481	GT:AD:DP:GQ:PL	0/1:69,54:123:99:1229,0,1762	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	1|2:0,13,10:23:99:1|0:50419101_CCGGCGG_C:969,320,360,543,0,498:50419101	0	2	0	0
chr1	52238481	52238481	G	A	exonic	ZFYVE9	.	nonsynonymous SNV	ZFYVE9:NM_004799:exon4:c.G1064A:p.C355Y	.	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.631	P	0.332	B	0.849	N	1.000	N	0.55	N	0.8	T	-1.019	T	0.062	T	0.305	-0.827	0.606	0.501	0.190	1.106	5.226	0.036	0.00745861454519	0.0015	0.00119808	0.0017	0.0005	0.0009	0	0.0041	0.0023	0.0011	0.0009	0.00163	252	154602	rs150425258	0.0015	0.0015	0.0014	0.0016	0.0111	0.0015	0.0014	0.0089	0.0081	0.0006	0.0011	0.0161	0	0.0021	0.0111	0.0012	0.0025	0.0011	0.0018	0.0018	0.0018	0.0018	0.0022	0.0016	0.0015	0.0016	0.0014	0.0003	0.0077	0.0022	0.0150	0	0.0031	0.0102	0.0018	0.0033	0.0008	0.053	0.41096	T	0.394	0.16134	T	0.148	0.30574	B	0.049	0.31143	B	0.848682	0.07043	N	1.077970	1	0.08975	N	0.895	0.22405	L	0.8	0.48769	T	-1.74	0.41239	N	0.287	0.40264	-1.0194	0.23910	T	0.062	0.25815	T	10	0.0066120327	0.00150	T	0.007459	0.19792	T	0.036	0.09122	.	.	0.128874641272	0.12493	0.19580028617862139	0.19497	0.191457487141	0.21472	0.302525669336	0.10778	T	0.009153	0.08348	T	-0.452483	0.01092	T	-0.43	0.29935	T	0.010937583888807	0.00157	T	0.529847	0.17555	T	0.06562438	0.14042	0.09003683	0.21091	0.06562438	0.14041	0.09003683	0.21090	-3.876	0.21943	T	.	.	0.070	0.17573	B	.;.;.	.;.;.	1.239124	0.16346	12.48	0.67762937216443309	0.08452	0.26054	0.22881	N	AEFDGBCI	0.072578	0.14489	N	-0.574075614779124	0.19735	1.035197	-0.577896067599742	0.20069	1.079664	0.999999986388764	0.74766	0.730579	0.87903	0	0.588066	0.40923	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	4.88	0.501	0.16130	1.142000	0.31152	1.584000	0.27491	0.676000	0.76740	0.899000	0.31403	0.356000	0.24496	0.581000	0.30918	0.2596:0.2835:0.4569:0.0	5.226	0.14714	335	0.86220	.;.;.	.	.	.	.	.	Uncertain significance	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	1646.98	40	chr1	52238481	.	G	A	1646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.771;DP=921;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-2.200e-02;SOR=0.760	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1661,0,1491	20	0	1	0
chr1	77935995	77935995	G	C	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232C:p.R411T	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3414299	Hypertrophic_cardiomyopathy_2	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.47	T	0.973	D	0.648	P	0.000	D	1.000	D	1.735	L	0.31	T	-0.963	T	0.154	T	0.348	4.133	21.3	6.03	2.868	6.514	13.716	0.138	0.0164858304763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.56456	D	0.046	0.49120	D	0.973	0.57599	D	0.585	0.50320	P	0.000023	0.55875	D	0.000000	0.905979	0.36288	D	2.015	0.55033	M	0.19	0.60236	T	-1.01	0.29933	N	0.455	0.49237	-0.9629	0.38625	T	0.154	0.48378	T	10	0.34226173	0.51261	T	0.016486	0.37771	T	0.138	0.37187	0.392	0.41606	0.693294191124	0.69065	0.13722819317445287	0.13646	0.192239442232	0.21553	0.485696047544	0.36842	T	0.018272	0.14759	T	-0.0193476	0.48946	T	-0.265568	0.48267	T	0.786236812373274	0.45445	D	0.978102	0.92255	D	0.10524542	0.24882	0.1166717	0.28166	0.10524542	0.24882	0.1166717	0.28165	-6.321	0.50449	T	0.2120513649046057	0.28444	0.679	0.72087	P	.;.	.;.	4.374991	0.67387	25.1	0.9810877380999008	0.38334	0.98337	0.81764	D	AEFBI	0.814499	0.73671	D	0.543291857114929	0.69675	5.390713	0.620374817542519	0.76421	6.487894	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2105	335.55	22	chr1	77935995	.	G	C,A	335.55	.	AC=4,4;AF=0.105,0.105;AN=38;BaseQRankSum=-2.969e+00;DP=769;ExcessHet=3.5521;FS=215.270;InbreedingCoeff=-0.2726;MLEAC=4,4;MLEAF=0.105,0.105;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=0.238;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,0,8:27:91:0|1:77935995_G_A:91,147,777,0,630,607:77935995	11	0	4	2
chr1	77935995	77935995	G	A	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232A:p.R411K	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.148	B	0.021	B	0.000	D	1.000	D	0.085	N	0.45	T	-1.052	T	0.041	T	0.151	1.673	11.55	6.03	2.868	6.514	13.716	0.094	0.00665660799398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.06847	T	0.764	0.04571	T	0.091	0.25247	B	0.016	0.17743	B	0.000023	0.55875	D	0.000000	0.606987	0.32587	D	0.975	0.24501	L	0.33	0.58323	T	0.77	0.02558	N	0.142	0.18103	-1.0525	0.13709	T	0.041	0.17488	T	10	0.12635311	0.24020	T	0.006657	0.17585	T	0.094	0.27141	0.272	0.22210	0.520586239559	0.51704	0.08362847643912337	0.08296	0.0483182337376	0.05281	0.503688514233	0.39341	T	0.007706	0.07099	T	-0.128727	0.31703	T	-0.422684	0.30769	T	0.675288915634155	0.39574	D	0.80142	0.44736	T	0.070407756	0.15505	0.08730277	0.20284	0.070407756	0.15505	0.08730277	0.20284	-3.317	0.14523	T	0.06871425045942398	0.02517	0.166	0.36554	B	.;.	.;.	2.462804	0.31732	18.83	0.92583887767275952	0.22042	0.94464	0.61249	D	AEFBI	0.704557	0.66024	D	-0.142333935333806	0.35562	2.044219	0.133413881396926	0.46268	2.875634	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2105	335.55	22	chr1	77935995	.	G	C,A	335.55	.	AC=4,4;AF=0.105,0.105;AN=38;BaseQRankSum=-2.969e+00;DP=769;ExcessHet=3.5521;FS=215.270;InbreedingCoeff=-0.2726;MLEAC=4,4;MLEAF=0.105,0.105;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=0.238;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,0,8:27:91:0|1:77935995_G_A:91,147,777,0,630,607:77935995	11	0	4	2
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	0/1:106,68:174:99:1590,0,2767	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	0/1:79,67:146:99:1769,0,2121	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|1:60,20:80:99:0|1:85158755_A_G:191,0,1542:85158755	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	0/1:60,12:77:99:.:.:128,0,1556	1	0	17	3
chr1	86489017	86489017	A	G	exonic	CLCA1	.	nonsynonymous SNV	CLCA1:NM_001285:exon8:c.A1204G:p.T402A,	.	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.955	P	0.714	P	0.002	N	1.000	N	0.925	L	-0.18	T	-0.978	T	0.119	T	0.234	1.198	9.867	5.7	2.158	1.758	7.798	0.175	0.0216330771167	0.0012	0.000798722	0.0015	0.0003	0.0009	0	0	0.0020	0.0022	0.0022	0.0014165	219	154602	rs138472865	0.0013	0.0013	0.0012	0.0015	0.0033	0.0013	0.0013	0.0022	0.0018	0.0002	0.0007	0.0148	0	0.0004	0.0033	0.0010	0.0019	0.0022	0.0010	0.0010	0.0009	0.0010	0.0029	0.0008	0.0008	0.0018	0.0014	9.62e-05	0	0.0003	0.0153	0	9.434e-05	0.0034	0.0010	0.0005	0.0029	0.302	0.14400	T	0.505	0.11004	T	0.955	0.54515	P	0.714	0.54635	P	0.002154	0.37138	N	0.269718	1	0.08975	N	2.28	0.64929	M	-0.18	0.65747	T	-2.26	0.50502	N	0.35	0.39659	-0.9777	0.35526	T	0.119	0.41778	T	10	0.012068808	0.00261	T	0.021633	0.44424	T	0.175	0.44197	.	.	0.633545781819	0.63054	0.5853350931980922	0.58463	0.349758134559	0.36824	0.358265161514	0.19133	T	0.034696	0.23426	T	-0.430367	0.01475	T	-0.396827	0.33754	T	0.0706591572256433	0.08744	T	0.647535	0.25853	T	0.25249124	0.48265	0.15313177	0.35997	0.25249124	0.48265	0.15313177	0.35996	-5.525	0.42101	T	.	.	0.087	0.11269	B	.;.	.;.	3.168620	0.42966	21.6	0.97089024586738559	0.32315	0.40016	0.26342	N	AEFBCI	0.151706	0.27624	N	-0.150724483928656	0.35204	2.019106	-0.205261017013835	0.31346	1.773141	0.15622048438188	0.17521	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.7	5.7	0.88690	3.185000	0.50635	9.288000	0.79769	0.756000	0.94297	0.639000	0.28076	1.000000	0.68203	0.158000	0.20581	0.7222:0.1417:0.0:0.1361	7.798	0.28324	746	0.52331	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1250.98	34	chr1	86489017	.	A	G	1250.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.151;DP=808;ExcessHet=0.0000;FS=6.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-1.041e+00;SOR=0.445	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1265,0,1103	20	0	1	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,231,0,0:231:99:.:.:9835,696,0,9835,696,9835,9835,696,9835,9835	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,231,0,0:231:99:.:.:9835,696,0,9835,696,9835,9835,696,9835,9835	0	12	6	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.913	P	0.503	P	0.002	N	0.999	D	1.525	L	1.57	T	-1.113	T	0.049	T	0.261	3.205	16.73	5.8	2.216	7.642	16.134	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4048	7236.94	34	chr1	99884396	.	T	C	7236.94	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-4.178e+00;DP=2325;ExcessHet=25.1139;FS=198.804;InbreedingCoeff=-0.6802;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=3.71;ReadPosRankSum=1.56;SOR=12.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,26:107:99:0|1:99884396_T_C:479,0,2765:99884396	4	0	17	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.043	B	0.045	B	0.000	D	0.997	D	0	N	1.65	T	-1.054	T	0.016	T	0.371	2.784	15.27	5.8	2.216	5.903	16.134	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3571	4473.53	34	chr1	99884400	.	T	C	4473.53	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.868e+00;DP=2293;ExcessHet=17.4423;FS=183.125;InbreedingCoeff=-0.5526;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.55;ReadPosRankSum=1.66;SOR=12.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,23:107:99:0|1:99884396_T_C:154,0,3102:99884396	6	0	15	0
chr1	109250116	109250116	-	CGC	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.37_38insCGC:p.P16_L17insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,41,0:41:99:1824,123,0,1824,123,1824	1	11	8	0
chr1	109250114	109250116	CGC	-	exonic	CELSR2	.	nonframeshift deletion	CELSR2:NM_001408:exon1:c.35_37del:p.P16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	3.557e-05	7.286e-06	5.903e-06	3.316e-05	3.11e-06	2.25e-06	8.9e-07	6e-07	3.316e-05	0	0	2.792e-05	0	0	3.793e-06	3.555e-05	1.259e-05	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,41,0:41:99:1824,123,0,1824,123,1824	1	11	8	0
chr1	109251971	109251971	C	T	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon1:c.C1892T:p.T631M,	.	.	415	1101	6	0	0	6	0.00271739	.	.	731546	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	.	.	1.000	D	2.255	M	4.08	T	-1.176	T	0.029	T	0.797	2.919	15.73	4.95	2.600	4.776	15.587	0.249	0.0084220510358	0.0033	0.00119808	0.0039	0.0013	0.0016	0.0001	0.0014	0.0061	0.0033	0.0015	0.0041655	644	154602	rs41279706	0.0053	0.0053	0.0054	0.0052	0.0064	0.0052	0.0052	0.0062	0.0062	0.0008	0.0024	0.0001	7.557e-05	0.0019	0.0040	0.0064	0.0050	0.0017	0.0034	0.0034	0.0035	0.0033	0.0057	0.0032	0.0031	0.0053	0.0051	0.0011	0	0.0029	0	0.0004	0.0021	0	0.0057	0.0028	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999927	0.51308	D	2.295	0.65404	M	4.08	0.03003	T	-4.15	0.75297	D	0.798	0.79406	-1.1757	0.00437	T	0.029	0.12453	T	9	0.023953468	0.00643	T	0.008422	0.22282	T	0.249	0.55752	.	.	0.526083527127	0.52256	0.444074245375542	0.44325	1.21388553281	0.80903	0.695509850979	0.66496	T	0.414316	0.76791	T	-0.263966	0.12439	T	-0.143984	0.59770	T	0.0311747803452138	0.02174	T	0.872813	0.58002	D	0.33937046	0.56229	0.34981853	0.60601	0.33937046	0.56229	0.34981853	0.60601	-9.774	0.72547	D	0.2583078757250682	0.34901	0.085	0.10400	B	.	.	5.225226	0.87703	29.3	0.99883443126596039	0.95892	0.88632	0.48651	D	AEFBCI	0.476490	0.51988	N	0.739437953857987	0.82215	7.708061	0.696107921546824	0.82082	7.680004	0.99999999896488	0.74766	0.736574	0.97449	0	0.626922	0.53725	0	0.732669	0.93749	0	0.616125	0.45549	0	.	.	4.95	4.95	0.64894	3.381000	0.52188	4.105000	0.41886	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.997000	0.79791	0.0:0.8625:0.1375:0.0	15.587	0.76240	764	0.49969	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	3735.98	157	chr1	109251971	.	C	T	3735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.05;DP=3435;ExcessHet=0.0000;FS=0.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=0.103;SOR=0.729	GT:AD:DP:GQ:PL	0/1:156,138:294:99:3750,0,3704	20	0	1	0
chr1	109608722	109608722	C	T	exonic	GNAT2	.	nonsynonymous SNV	GNAT2:NM_005272:exon4:c.G370A:p.V124M	Achromatopsia 4	.	0	1512	9	1	0	11	0.00362438	.	.	194412	not_specified|GNAT2-related_disorder|not_provided|Achromatopsia_4	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0013465,MedGen:C1841721,OMIM:613856,Orphanet:49382	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.99	D	0.738	P	0.006	N	0.868	D	2.335	M	-2.43	D	0.530	D	0.714	D	0.453	3.993	20.5	4.69	2.600	2.345	17.774	0.335	0.0446554630595	0.0045	0.00259585	0.0054	0.0009	0.0021	0	0.0032	0.0075	0.0066	0.0061	0.0055821	863	154602	rs41280330	0.0069	0.0069	0.0070	0.0069	0.0079	0.0068	0.0068	0.0077	0.0077	0.0010	0.0022	0.0036	0	0.0042	0.0059	0.0079	0.0067	0.0061	0.0044	0.0044	0.0045	0.0043	0.0075	0.0041	0.0040	0.0065	0.0063	0.0012	0	0.0032	0.0020	0.0004	0.0030	0	0.0071	0.0043	0.0075	0.046	0.40573	D	0.065	0.44702	T	0.99	0.63424	D	0.738	0.55619	P	0.005516	0.32736	N	0.287924	0.868387	0.35516	D	1.63	0.41750	L	-2.43	0.88689	D	-0.41	0.14000	N	0.426	0.46555	0.530	0.90961	D	0.714	0.90196	D	10	0.008829892	0.00200	T	0.044655	0.61597	D	0.335	0.65718	.	.	0.921974883161	0.92118	0.8104456628994533	0.80999	0.354423072536	0.37217	0.497574865818	0.38490	T	0.423673	0.77435	T	-0.23169	0.16426	T	-0.096188	0.63691	T	0.0494856905650249	0.05409	T	0.973003	0.90263	D	0.19789441	0.41672	0.24691439	0.50211	0.18797	0.40274	0.24691439	0.50210	-5.791	0.44496	T	0.2074948243035606	0.27734	0.243	0.47697	B	.	.	4.155617	0.62368	24.4	0.99895602382781312	0.96895	0.91798	0.54285	D	AEFBI	0.437475	0.49726	N	0.562450296784154	0.70845	5.56152	0.525014713537541	0.69678	5.394781	0.99998920776304	0.51787	0.421363	0.06395	0	0.550933	0.16991	0	0.491513	0.07944	0	0.664235	0.64389	0	.	.	4.69	4.69	0.58546	2.020000	0.40630	7.667000	0.64568	0.599000	0.40250	0.897000	0.31356	1.000000	0.68203	0.842000	0.39752	0.0:1.0:0.0:0.0	17.774	0.88411	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2432.98	38	chr1	109608722	.	C	T	2432.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=922;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-1.690e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:98,98:196:99:2447,0,2184	20	0	1	0
chr1	109689279	109689279	T	C	exonic	GSTM1	.	nonsynonymous SNV	GSTM1:NM_000561:exon5:c.T314C:p.M105T	.	.	982	537	0	3	0	6	0.00555556	.	.	695968	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.773	P	0.459	P	0.000	U	1.000	D	2.92	M	4.54	T	-1.096	T	0.014	T	0.447	-1.045	0.201	2.02	0.419	1.179	6.059	0.162	0.00678492829244	.	.	3.588e-05	0	0	0	0	0	0.0049	0	5.17e-05	8	154602	rs202002774	5.605e-06	0.0016	5.601e-06	5.609e-06	3.859e-05	1.31e-06	8.9e-07	6.4e-06	2.39e-06	0	0	0	0	0	0	3.849e-06	0	3.859e-05	3.734e-05	0.0034	2.426e-05	5.114e-05	0.0003	9.92e-06	4.75e-06	4.63e-05	1.915e-05	0	0	0.0003	0	0	0.0002	0	0	0	0	0.057	0.39097	T	0.284	0.22084	T	0.773	0.44016	P	0.459	0.46380	P	0.000002	0.62929	U	0.055508	0.989061	0.81001	D	3.345	0.91022	M	4.54	0.03809	T	-5.25	0.84035	D	0.412	0.49146	-1.0963	0.04569	T	0.014	0.05465	T	10	0.3916999	0.54938	T	0.006785	0.17925	T	0.162	0.41843	.	.	0.221734844693	0.21761	0.5243859957062466	0.52362	1.16759706748	0.79672	0.455572098494	0.32704	T	0.314375	0.68606	T	-0.100377	0.36361	T	-0.381961	0.35493	T	0.258686060816388	0.23258	T	0.424358	0.12156	T	0.74832326	0.80771	0.5330875	0.73020	0.74832326	0.80772	0.5330875	0.73021	-6.657	0.62168	T	.	.	0.286	0.51840	B	.;.;.;.;.	.;.;.;.;.	1.642350	0.20957	14.99	0.69312899407550344	0.08932	0.77746	0.38263	D	AEFGBI	0.250440	0.37048	N	-0.312240552772623	0.28683	1.584075	-0.430811864685018	0.24098	1.317746	0.846920786302177	0.24971	0.660085	0.49399	0	0.662677	0.63036	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	3.17	2.02	0.25641	1.663000	0.37045	-0.229000	0.10694	0.660000	0.55035	1.000000	0.71638	0.001000	0.17328	0.021000	0.11733	0.0:0.1286:0.0:0.8714	6.059	0.19054	824	0.40336	Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;.	.	.	.	.	chr1:110231901	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	0.2	98.5	307	chr1	109689279	.	T	C	98.5	.	AC=4;AF=0.200;AN=20;DP=307;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8135;MLEAC=4;MLEAF=0.200;MQ=56.67;QD=23.96;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:109689279_T_C:90,6,0:109689279	8	2	0	11
chr1	109689287	109689288	CA	-	exonic	GSTM1	.	frameshift deletion	GSTM1:NM_000561:exon5:c.322_323del:p.H108Yfs*13	.	.	988	531	0	3	0	6	0.00561798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183423000	2.809e-06	0.0005	0	5.622e-06	3.859e-06	4.7e-07	1.8e-07	6.4e-07	2.4e-07	0	0	0	0	0	0	3.859e-06	0	0	2.475e-05	0.0023	0	5.095e-05	0.0001	4.11e-06	1.54e-06	.	.	0	0	0.0001	0	0	0.0002	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	77.81	306	chr1	109689286	.	CCA	C	77.81	.	AC=2;AF=0.111;AN=18;DP=306;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=56.50;QD=28.24;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:109689279_T_C:90,6,0:109689279	8	1	0	12
chr1	109689289	109689289	-	GG	exonic	GSTM1	.	frameshift insertion	GSTM1:NM_000561:exon5:c.324_325insGG:p.M109Gfs*6	.	.	989	530	0	3	0	6	0.00562852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1241704212	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.729e-05	0.0023	0	7.672e-05	0.0003	9.9e-06	4.75e-06	4.625e-05	1.913e-05	0	0	0.0003	0	0	0.0002	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	77.81	306	chr1	109689289	.	T	TGG	77.81	.	AC=2;AF=0.111;AN=18;DP=306;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=56.50;QD=27.23;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:109689279_T_C:90,6,0:109689279	8	1	0	12
chr1	109689300	109689300	G	T	exonic	GSTM1	.	nonsynonymous SNV	GSTM1:NM_000561:exon5:c.G335T:p.G112V	.	.	990	529	0	3	0	6	0.0056391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.006	B	0.194	N	1.000	N	-1.405	N	3.96	T	-1.050	T	0.001	T	0.487	-2.106	0.006	-6.34	-2.318	-4.127	5.922	0.136	0.00254084323904	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1179816349	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.48e-05	0.0020	2.416e-05	2.547e-05	0.0001	4.12e-06	1.54e-06	.	.	3.525e-05	0	0.0001	0	0	0	0	0	0	0	0.972	0.02568	T	1.0	0.05727	T	0.001	0.07471	B	0.006	0.12133	B	0.193539	0.16783	N	0.517604	1	0.08975	N	-0.695	0.01866	N	3.96	0.03624	T	1.55	0.01787	N	0.221	0.24758	-1.0500	0.14397	T	0.001	0.00222	T	10	0.024888337	0.00701	T	0.002541	0.05093	T	0.136	0.36778	0.372	0.38340	0.0846915920261	0.08053	0.37431931498027177	0.37345	1.22941327989	0.81299	0.297374427319	0.10010	T	0.025902	0.19278	T	-0.263541	0.12489	T	-0.616335	0.11475	T	0.0328750871121883	0.02450	T	0.50475	0.19406	T	0.15011089	0.34189	0.087273456	0.20275	0.15011089	0.34189	0.087273456	0.20275	-3.923	0.33598	T	.	.	0.223	0.45458	B	.;.;.;.;.	.;.;.;.;.	-2.059496	0.00088	0.002	0.40153318879898264	0.02816	0.00211	0.01201	N	AEFDGBI	0.040038	0.05899	N	-2.43387908591156	0.00023	0.0009779129	-2.44140761310503	0.00031	0.001386376	0.995926402434481	0.34412	0.660085	0.49399	0	0.662677	0.63036	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	3.17	-6.34	0.01808	-2.119000	0.01411	-20.000000	0.00162	-0.841000	0.02792	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2701:0.2566:0.4732	5.922	0.18327	824	0.40336	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1111	77.89	306	chr1	109689300	.	G	T	77.89	.	AC=2;AF=0.111;AN=18;DP=306;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=56.50;QD=32.90;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:109689279_T_C:90,6,0:109689279	8	1	0	12
chr1	109689314	109689314	A	C	exonic	GSTM1	.	nonsynonymous SNV	GSTM1:NM_000561:exon5:c.A349C:p.N117H	.	.	995	526	0	1	0	2	0.00189753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.953	P	0.541	P	0.727	U	1.000	N	2.58	M	4.47	T	-0.986	T	0.013	T	0.225	2.271	13.55	2.03	0.425	2.732	6.008	0.164	0.0035593207228	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1363667431	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.238e-05	0.0008	0	2.543e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	0.007	0.61437	D	0.027	0.57104	D	0.953	0.54283	P	0.541	0.48869	P	0.726851	0.06346	U	1.173350	1	0.81001	D	2.535	0.73915	M	4.47	0.04228	T	-2.55	0.56787	D	0.214	0.30233	-0.9856	0.33687	T	0.013	0.05321	T	10	0.23352018	0.40371	T	0.003559	0.08123	T	0.164	0.42212	0.534	0.64293	0.224531998449	0.22054	0.4104308232327156	0.40959	1.06697471988	0.76656	0.264495611191	0.05438	T	0.137855	0.47102	T	-0.193259	0.21780	T	-0.51538	0.20763	T	0.415729910135269	0.29532	T	0.352565	0.08297	T	0.33059093	0.55519	0.15954101	0.37203	0.33059093	0.55519	0.15954101	0.37203	-9.012	0.72693	D	.	.	0.111	0.21728	B	.;.;.;.;.	.;.;.;.;.	2.041384	0.25950	16.94	0.9905595212720979	0.51367	0.87273	0.46762	D	AEFDGBI	0.292070	0.40304	N	-0.258970255628518	0.30745	1.71732	-0.390145311047094	0.25288	1.389861	0.799511939276101	0.24161	0.660085	0.49399	0	0.662677	0.63036	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	3.17	2.03	0.25714	2.245000	0.42784	2.689000	0.34074	0.750000	0.87069	0.958000	0.33488	0.003000	0.18671	0.004000	0.06068	0.871:0.0:0.129:0.0	6.008	0.18785	824	0.40336	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-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	0.1111	77.89	306	chr1	109689314	.	A	C	77.89	.	AC=2;AF=0.111;AN=18;DP=306;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=56.50;QD=36.74;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:109689314_A_C:90,6,0:109689314	8	1	0	12
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	0/1:88,40:149:61:61,0,1272	0	0	21	0
chr1	117092779	117092779	G	A	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon18:c.G2854A:p.E952K,	.	.	422	1084	16	0	0	16	0.00732601	.	.	706616	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.48	T	1.0	D	0.998	D	0.002	N	1.000	D	2.255	M	-2.29	D	0.222	D	0.691	D	0.278	3.719	18.89	5.06	2.632	8.751	13.794	0.500	.	0.0078	0.00479233	0.0072	0.0012	0.0043	0	0.0020	0.0113	0.0066	0.0024	0.0071215	1101	154602	rs41306197	0.0078	0.0078	0.0077	0.0079	0.0121	0.0077	0.0076	0.0099	0.0090	0.0014	0.0050	0.0384	0	0.0015	0.0121	0.0082	0.0099	0.0022	0.0069	0.0069	0.0075	0.0063	0.0096	0.0065	0.0064	0.0090	0.0088	0.0015	0.0636	0.0065	0.0366	0	0.0008	0.0102	0.0096	0.0133	0.0019	0.039	0.42487	D	0.128	0.34959	T	1.0	0.90584	D	0.998	0.88582	D	0.001813	0.37945	N	0.000000	1	0.81001	D	2.91	0.84121	M	-2.29	0.87591	D	-1.37	0.33998	N	0.647	0.65844	0.222	0.86288	D	0.691	0.89345	D	10	0.009188026	0.00208	T	.	.	.	0.500	0.78350	.	.	0.94980648375	0.94927	0.40208463991760734	0.40124	0.774771022593	0.64964	0.594895720482	0.52183	T	0.023315	0.17820	T	-0.230493	0.16584	T	-0.0928324	0.63949	T	0.0267691115987556	0.01512	T	0.935306	0.75759	D	0.1221448	0.28709	0.118917234	0.28704	0.1221448	0.28708	0.118917234	0.28703	-12.071	0.85195	D	.	.	0.270	0.50370	B	.	.	4.847000	0.79187	27.1	0.99905566058912054	0.97651	0.98527	0.83734	D	AEFDGBCIJ	0.901852	0.84905	D	0.630458009251532	0.75108	6.24836	0.56580612014504	0.72504	5.820292	0.999999999999484	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.06	5.06	0.67838	8.857000	0.91856	11.537000	0.93115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.253000	0.23340	0.0:0.0:1.0:0.0	13.794	0.62652	895	0.25842	.	.	.	.	.	.	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	2106.98	36	chr1	117092779	.	G	A	2106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.020e-01;DP=878;ExcessHet=0.0000;FS=1.167;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=1.28;SOR=0.601	GT:AD:DP:GQ:PL	0/1:85,91:176:99:2121,0,2022	20	0	1	0
chr1	119422169	119422169	T	C	exonic	HSD3B2	.	nonsynonymous SNV	HSD3B2:NM_000198:exon4:c.T668C:p.V223A	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.815	P	0.679	P	0.000	D	1.000	D	2.46	M	-2.59	D	0.253	D	0.629	D	0.529	3.239	16.86	3.98	1.463	4.520	7.169	0.682	0.108876548008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.086	0.40909	T	0.815	0.45525	P	0.679	0.53442	P	0.000002	0.62929	D	0.058872	0.999986	0.54805	D	2.67	0.78151	M	-2.59	0.89822	D	-2.93	0.61284	D	0.486	0.52029	0.253	0.86788	D	0.629	0.86985	D	9	0.8173064	0.80959	D	0.108877	0.78560	D	0.682	0.88348	0.814	0.92925	0.999896452263	0.99989	0.5181679192019256	0.51739	0.576694450929	0.53618	0.60534620285	0.53659	T	0.757609	0.93407	D	0.108683	0.65214	D	-0.0816607	0.64782	T	0.964553475379944	0.66993	D	0.714229	0.32652	T	0.39722496	0.60540	0.30491844	0.56520	0.39722496	0.60540	0.30491844	0.56519	-5.316	0.40101	T	0.30838737677218514	0.40616	0.271	0.54041	B	.;.	.;.	4.177712	0.62865	24.5	0.99707693567709055	0.81074	0.96474	0.69319	D	AEFI	0.544154	0.55919	D	0.285675610912907	0.55421	3.706261	0.230980790095606	0.51573	3.338813	0.163765464656093	0.17633	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.98	3.98	0.45383	4.414000	0.59555	4.842000	0.45294	0.366000	0.20181	1.000000	0.71638	1.000000	0.68203	0.561000	0.30436	0.0:0.1041:0.0:0.8959	7.169	0.24885	687	0.59234	3-beta hydroxysteroid dehydrogenase/isomerase;3-beta hydroxysteroid dehydrogenase/isomerase	.	.	.	.	.	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	1469.98	33	chr1	119422169	.	T	C	1469.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-2.243e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/1:71,53:124:99:1484,0,1857	20	0	1	0
chr1	119967490	119967490	G	T	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_001200001:exon8:c.C1396A:p.Q466K	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	.	1	1498	23	0	0	23	0.00761842	.	.	138707	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	.	.	.	.	.	.	.	.	0.38	T	0.997	D	0.992	D	0.052	N	1.000	D	1.465	L	-1.54	D	-0.213	T	0.470	T	0.395	4.568	24.8	4.78	1.387	6.347	14.919	0.490	0.0540084363161	0.0002	0.00159744	0.0012	0	0.0002	0	0	0.0012	0.0011	0.0039	0.0010608	164	154602	rs141935585	0.0008	0.0008	0.0006	0.0009	0.0051	0.0007	0.0007	0.0047	0.0045	5.975e-05	0.0004	0.0119	7.559e-05	0	0.0024	0.0002	0.0016	0.0051	0.0006	0.0006	0.0006	0.0006	0.0046	0.0005	0.0005	0.0031	0.0026	2.405e-05	0	0.0001	0.0118	0	0	0.0068	0.0003	0.0014	0.0046	0.05	0.39575	D	0.165	0.30926	T	0.997	0.70673	D	0.992	0.80445	D	0.051790	0.22951	N	0.218587	1	0.81001	D	1.54	0.38927	L	-1.54	0.81640	D	-2.89	0.60665	D	0.275	0.31140	-0.2133	0.77327	T	0.470	0.79605	T	10	0.015744537	0.00331	T	0.054008	0.65690	D	0.490	0.77720	.	.	0.794429864761	0.79251	0.8310143140814363	0.83060	0.724846526864	0.62416	0.630724787712	0.57248	T	0.762811	0.93588	D	-0.260944	0.12791	T	-0.147338	0.59479	T	0.0276478020861148	0.01636	T	0.808919	0.45897	T	0.40501353	0.61078	0.21972813	0.46722	0.4237735	0.62342	0.24696754	0.50216	-6.274	0.48516	T	0.16123221376884006	0.19725	0.099	0.16713	B	.;.	.;.	2.909045	0.38583	20.8	0.99497629346689553	0.67859	0.97994	0.78718	D	AEFBI	0.693048	0.65251	D	0.182510541799373	0.50359	3.226697	0.29721799957346	0.55377	3.700765	0.999999999179144	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	4.78	0.60666	5.468000	0.66473	8.322000	0.76964	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8497:0.1503	14.919	0.70467	861	0.33516	EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like calcium-binding, 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	2347.98	36	chr1	119967490	.	G	T	2347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.664;DP=871;ExcessHet=0.0000;FS=4.472;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-3.580e-01;SOR=0.441	GT:AD:DP:GQ:PL	0/1:81,92:173:99:2362,0,1972	20	0	1	0
chr1	146134258	146134258	G	C	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon9:c.C1314G:p.D438E	.	.	432	1070	19	1	0	21	0.00971772	.	.	3409357	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381967314	0.0049	0.0064	0.0049	0.0048	0.0088	0.0048	0.0047	0.0066	0.0058	0.0005	0.0046	0.0007	2.522e-05	0.0058	0.0088	0.0054	0.0046	0.0032	0.0042	0.0048	0.0042	0.0042	0.0058	0.0040	0.0039	0.0053	0.0051	0.0011	0	0.0051	0.0009	0.0002	0.0078	0.0102	0.0058	0.0074	0.0035	.	.	.	0.265	0.22694	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.06	0.39781	T	.	.	.	0.072	0.04547	.	.	.	.	.	.	.	0.011097819	0.00244	T	.	.	.	.	.	.	.	.	.	0.061565213573734096	0.06096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472753	0.14054	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.50490	B	.	.	-0.323164	0.02517	0.299	.	.	.	.	.	.	0.030114	0.02969	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.791000	0.04705	.	.	-0.696000	0.04083	0.005000	0.17040	.	.	0.002000	0.04165	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	715.33	45	chr1	146134258	.	G	C	715.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.060e+00;DP=916;ExcessHet=0.0000;FS=0.592;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=50.28;MQRankSum=-9.777e+00;QD=3.67;ReadPosRankSum=-1.128e+00;SOR=0.755	GT:AD:DP:GQ:PL	0/1:143,52:195:99:729,0,3825	19	0	1	1
chr1	147908652	147908652	C	T	exonic	GJA8	.	nonsynonymous SNV	GJA8:NM_005267:exon2:c.C697T:p.R233W,	Cataract 1, multiple types, Autosomal dominant	.	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.936	D	0.000	D	1.000	D	0.975	L	-4.56	D	1.062	D	0.907	D	0.65	3.246	16.89	4.4	2.267	5.842	17.139	0.690	0.294019697902	0.0002	0.000199681	0.0001	0	0.0007	0	0	2.998e-05	0	0.0002	9.7e-05	15	154602	rs140512440	5.952e-05	5.951e-05	6.126e-05	5.775e-05	0.0005	4.883e-05	4.561e-05	0.0004	0.0003	0	0.0005	0	0	0	0.0003	3.867e-05	0.0001	0.0001	3.94e-05	3.937e-05	5.14e-05	2.686e-05	0.0002	1.714e-05	1.129e-05	4.88e-06	1.83e-06	0	0	6.538e-05	0	0	0	0	2.94e-05	0.0009	0.0002	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.936	0.67150	D	0.000007	0.62929	D	0.065730	0.999997	0.58761	D	2.045	0.56016	M	-4.56	0.97772	D	-2.26	0.50502	N	0.698	0.70263	1.062	0.98396	D	0.907	0.96932	D	10	0.7287819	0.74154	D	0.29402	0.90660	D	0.690	0.88726	.	.	0.92797645703	0.92724	0.860726395076712	0.86036	.	.	0.451628297567	0.32167	T	0.667243	0.90083	D	0.0264538	0.55249	T	0.162133	0.80936	D	0.339203149080276	0.26592	T	0.89951	0.64815	D	0.3365709	0.56005	0.37050173	0.62298	0.3365709	0.56005	0.37050173	0.62298	-5.668	0.43408	T	0.3295728582200184	0.42763	0.099	0.16626	B	.	.	4.530834	0.71121	25.6	0.99877832547744616	0.95491	0.98995	0.89700	D	AEFDBI	0.908584	0.86409	D	0.351339474185347	0.58810	4.055636	0.29695467454901	0.55361	3.699242	0.9999994761575	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.4	4.4	0.52402	4.962000	0.63395	2.677000	0.33989	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:1.0:0.0:0.0	17.139	0.86625	952	0.10565	.	.	.	.	.	.	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	2477.98	35	chr1	147908652	.	C	T	2477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=939;ExcessHet=0.0000;FS=4.353;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-1.651e+00;SOR=1.038	GT:AD:DP:GQ:PL	0/1:86,92:178:99:2492,0,2030	20	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C	.	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	4.24	T	-0.912	T	0.002	T	0.328	-0.960	0.324	0.43	-1.589	-0.069	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	30341.43	581	chr1	149075685	.	C	A	30341.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.56;DP=9689;ExcessHet=43.6797;FS=6.799;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.24;MQRankSum=-6.707e+00;QD=3.24;ReadPosRankSum=-1.735e+00;SOR=1.328	GT:AD:DP:GQ:PL	0/1:253,56:309:99:814,0,6688	1	0	20	0
chr1	151851098	151851098	G	A	exonic	THEM5	.	nonsynonymous SNV	THEM5:NM_182578:exon3:c.C419T:p.S140L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.996	D	0.692	P	0.000	D	0.634	N	1.85	L	2.09	T	-1.088	T	0.036	T	0.501	2.241	13.45	4.99	1.478	3.290	12.997	0.121	0.0147365966189	.	.	1.65e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs200369753	1.3e-05	1.3e-05	1.089e-05	1.513e-05	8.115e-05	8.31e-06	6.7e-06	3.765e-05	2.662e-05	2.987e-05	0	0	2.519e-05	1.872e-05	0	5.396e-06	4.967e-05	8.115e-05	6.566e-06	6.562e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.313	0.13879	T	0.152	0.32249	T	0.996	0.68779	D	0.692	0.53862	P	0.000002	0.62929	D	0.060066	0.63433	0.30671	N	2.485	0.72352	M	2.09	0.20122	T	-1.09	0.28290	N	0.698	0.70263	-1.0877	0.05925	T	0.036	0.15465	T	10	0.6055141	0.67152	D	0.014737	0.35052	T	0.139	0.37390	0.318	0.29581	0.37262878642	0.36876	0.3398375260303536	0.33896	0.378730719423	0.39278	0.474958658218	0.35364	T	0.003366	0.02768	T	-0.181744	0.23478	T	-0.401985	0.33153	T	0.954387187957764	0.64252	D	0.844815	0.52285	T	0.39320245	0.60259	0.124181315	0.29936	0.39320245	0.60259	0.124181315	0.29935	-6.366	0.49244	T	.	.	0.346	0.56317	A	.	.	3.641685	0.51634	23.1	0.99698970098183159	0.80453	0.73129	0.35775	D	AEFDGBI	0.168903	0.29570	N	0.235913486812584	0.52945	3.46588	0.221393259659165	0.51035	3.289717	0.999996792003761	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.59522	0.37078	0	.	.	5.91	4.99	0.65942	3.235000	0.51027	8.345000	0.77002	0.648000	0.52827	0.997000	0.40164	1.000000	0.68203	0.260000	0.23518	0.0:0.162:0.838:0.0	12.997	0.58056	577	0.69927	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	35	chr1	151851098	.	G	A	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-6.380e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1284,0,1021	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|2:146,0,14:160:99:0|1:152214821_T_A:146,586,6604,0,6019,5976:152214821	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|2:146,0,14:160:99:0|1:152214821_T_A:146,586,6604,0,6019,5976:152214821	8	0	3	0
chr1	152218845	152218845	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2784C:p.Q928H,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.995	D	0.839	P	.	.	1.000	N	1.495	L	4.54	T	-0.885	T	0.007	T	0.077	0.530	6.870	2.81	1.924	-0.258	9.460	0.039	0.00277398207892	.	0.000199681	0.0004	0	8.637e-05	0.0001	0	0.0001	0.0011	0.0021	0.000304	47	154602	rs199549819	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0014	0.0013	0	2.236e-05	0	5.04e-05	0	0.0012	8.993e-05	0.0002	0.0016	0.0001	0.0001	0.0001	0.0001	0.0015	7.582e-05	6.286e-05	0.0007	0.0005	2.409e-05	0	0	0	0	0	0.0034	0.0001	0	0.0015	0.014	0.53172	D	0.121	0.35840	T	0.995	0.67487	D	0.839	0.60107	P	.	.	.	.	1	0.08975	N	2.215	0.62545	M	4.54	0.01963	T	-1.48	0.36189	N	0.108	0.09349	-0.8849	0.49365	T	0.007	0.02598	T	9	0.022691846	0.00574	T	0.002774	0.05752	T	0.039	0.10176	0.283	0.23961	0.509228182784	0.50563	0.008687222983592115	0.00832	.	.	0.514081060886	0.40794	T	0.019604	0.15585	T	-0.637546	0.00086	T	-0.707582	0.05421	T	0.0308943800628185	0.02129	T	0.304669	0.05813	T	0.06817321	0.14829	0.06522582	0.13188	0.06817321	0.14829	0.06522582	0.13188	-6.271	0.48493	T	.	.	0.190	0.40794	B	.	.	1.155514	0.15440	11.85	0.57709566375960941	0.05829	0.07031	0.13058	N	AEFBI	0.035298	0.04519	N	-0.200597682536222	0.33109	1.874776	-0.400489424023735	0.24982	1.371237	1.05634643418225E-4	0.05123	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.76	2.81	0.31971	-0.145000	0.10248	.	.	-0.307000	0.06116	0.000000	0.06391	.	.	0.042000	0.14466	0.0:0.8868:0.0:0.1132	9.460	0.37943	570	0.70478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4723.98	273	chr1	152218845	.	C	G	4723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.840;DP=4654;ExcessHet=0.0000;FS=0.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=-1.131e+00;QD=10.64;ReadPosRankSum=0.523;SOR=0.764	GT:AD:DP:GQ:PL	0/1:250,194:444:99:4738,0,6333	20	0	1	0
chr1	152308312	152308312	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A6574G:p.K2192E,	Ichthyosis vulgaris, Autosomal dominant	.	0	796	719	6	1	732	0.314679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.1	N	4.69	T	-0.977	T	0.001	T	0.055	0.459	6.492	1.99	-0.043	0.245	5.49	0.020	0.00691589360876	.	.	0.0001	0	0	0	0	7.497e-05	0.0011	0.0005	3.84e-05	1	26028	rs66954353	6.506e-05	6.501e-05	5.314e-05	7.711e-05	0.0003	5.434e-05	5.047e-05	0.0002	0.0001	0	0	0	0	0	0.0003	6.12e-05	6.632e-05	0.0002	3.965e-05	3.949e-05	5.161e-05	2.709e-05	8.841e-05	1.723e-05	1.135e-05	3.769e-05	2.58e-05	0	0	0	0	0	0	0	8.841e-05	0	0	0.358	0.11994	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.69	0.01694	T	0.47	0.03090	N	0.081	0.05670	-0.9769	0.35705	T	0.001	0.00188	T	9	0.027516663	0.00896	T	0.006916	0.18289	T	0.020	0.03691	0.3	0.26683	0.130388298395	0.12655	0.016309325306619656	0.01586	.	.	0.271451950073	0.06331	T	0.020219	0.15960	T	-0.62899	0.00097	T	-0.830759	0.01249	T	0.0464902013553936	0.04873	T	0.277072	0.04771	T	0.060441438	0.12404	0.05331553	0.08958	0.060441438	0.12404	0.05331553	0.08957	-3.692	0.19200	T	.	.	0.087	0.11124	B	.	.	0.351483	0.07246	3.845	0.59927330293800163	0.06340	0.00148	0.00897	N	AEFBI	0.014498	0.00233	N	-1.55397975177907	0.01512	0.06600387	-1.49818149083929	0.02359	0.1083893	1.85635635730227E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.99	1.99	0.25423	-0.351000	0.07760	.	.	-1.790000	0.00639	0.000000	0.06391	0.004000	0.18990	0.000000	0.00833	0.0:0.2239:0.546:0.2301	5.49	0.16063	563	0.71062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	79746.79	67	chr1	152308312	.	T	G,C	79746.79	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-5.400e-01;DP=8463;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=58.40;MQRankSum=-1.301e+01;QD=10.85;ReadPosRankSum=2.95;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:245,0,261:506:99:.:.:6842,7576,14641,0,7065,6282	10	0	10	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	10818.93	25	chr1	152910506	.	C	CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG,G,*	10818.93	.	AC=18,2,2;AF=0.474,0.053,0.053;AN=38;BaseQRankSum=-2.960e-01;DP=998;ExcessHet=1.5433;FS=1.193;InbreedingCoeff=-0.0466;MLEAC=19,2,2;MLEAF=0.500,0.053,0.053;MQ=55.69;MQRankSum=0.00;QD=23.78;ReadPosRankSum=-1.521e+00;SOR=0.793	GT:AD:DP:GQ:PL	0/3:17,0,0,6:23:99:160,211,809,211,809,809,0,598,598,572	3	4	8	2
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	0/1:55,44:99:99:224,0,624	6	0	15	0
chr1	154869726	154869726	-	GCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGC:p.Q80_P81insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,1,31,0,0,0,0:32:57:1725,1175,1073,117,57,0,1498,1154,120,1423,1498,1154,120,1423,1423,1498,1154,120,1423,1423,1423,1498,1154,120,1423,1423,1423,1423	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746397332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,1,31,0,0,0,0:32:57:1725,1175,1073,117,57,0,1498,1154,120,1423,1498,1154,120,1423,1423,1498,1154,120,1423,1423,1423,1498,1154,120,1423,1423,1423,1423	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,1,31,0,0,0,0:32:57:1725,1175,1073,117,57,0,1498,1154,120,1423,1498,1154,120,1423,1423,1498,1154,120,1423,1423,1423,1498,1154,120,1423,1423,1423,1423	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGC:p.Q80_P81insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,1,31,0,0,0,0:32:57:1725,1175,1073,117,57,0,1498,1154,120,1423,1498,1154,120,1423,1423,1498,1154,120,1423,1423,1423,1498,1154,120,1423,1423,1423,1423	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,1,31,0,0,0,0:32:57:1725,1175,1073,117,57,0,1498,1154,120,1423,1498,1154,120,1423,1423,1498,1154,120,1423,1423,1423,1498,1154,120,1423,1423,1423,1423	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|1:86,26,0:112:99:0|1:156011822_G_A:391,0,2864,644,2940,3583:156011822	3	0	10	7
chr1	156011827	156011827	G	A	exonic	SSR2	.	stopgain	SSR2:NM_003145:exon5:c.C424T:p.R142X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	3.843	19.52	3.24	0.516	1.520	12.276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.942	0.94904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	9.926211	0.99439	44	0.99213921751579504	0.55685	0.88238	0.48077	D	AEFGBI	0.118731	0.23204	N	0.572417952431753	0.71458	5.653797	0.410843908091509	0.62240	4.436054	0.999968225531357	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	3.24	0.36257	1.712000	0.37560	0.938000	0.22831	0.618000	0.50648	1.000000	0.71638	0.996000	0.32793	0.982000	0.59238	0.0:0.0:0.6097:0.3903	12.276	0.54054	196	0.92420	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	423.11	36	chr1	156011827	.	G	A	423.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.019e+00;DP=1075;ExcessHet=0.1072;FS=184.231;InbreedingCoeff=-0.0501;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.20;ReadPosRankSum=-7.000e-03;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,26:109:99:0|1:156011822_G_A:399,0,2829:156011822	19	0	2	0
chr1	156930528	156930528	G	C	splicing	LRRC71	NM_144702:exon12:c.1241-1G>C	.	.	.	.	423	1087	11	1	0	13	0.00594422	1.0000	0.948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.945	15.82	5.29	2.741	2.462	14.303	.	.	0.0011	0.00379393	0.0070	0.0008	0.0040	0	0	0.0032	0.0038	0.0163	0.0020957	324	154602	rs147334331	0.0028	0.0028	0.0025	0.0032	0.0153	0.0028	0.0027	0.0146	0.0143	0.0003	0.0010	0.0028	0	0.0006	0.0039	0.0023	0.0023	0.0153	0.0018	0.0018	0.0016	0.0019	0.0151	0.0016	0.0015	0.0123	0.0113	0.0003	0	0.0008	0.0043	0	0.0006	0	0.0023	0	0.0151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.101625	0.36157	T	0.0935698	0.76483	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.960962	0.94191	33	0.9949467236067302	0.67687	0.84566	0.43649	D	AEFBCI	.	.	.	1.00135432233439	0.95784	13.96329	0.831559637646466	0.91895	11.12489	0.999999971560932	0.74766	0.080785	0.02172	0	0.109994	0.03358	0	0.059349	0.00372	0	0.10565	0.03146	0	0.973784	0.76300	5.29	5.29	0.74430	2.501000	0.45049	9.733000	0.81406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	14.303	0.65922	432	0.80690	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1683.11	36	chr1	156930528	.	G	C	1683.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.522;DP=834;ExcessHet=0.1072;FS=0.562;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.46;ReadPosRankSum=-7.060e-01;SOR=0.608	GT:AD:DP:GQ:PL	0/1:50,30:80:99:731,0,1301	19	0	2	0
chr1	157544364	157544364	T	C	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon5:c.A742G:p.T248A	.	.	436	1077	9	0	0	9	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.006	B	0.007	B	0.006	N	1.000	N	-0.385	N	2.69	T	-0.976	T	0.003	T	0.072	0.645	7.463	-8.6	-2.544	-2.287	1.389	0.003	0.00233255892326	0.0002	0.000199681	0.0014	0.0002	0.0059	0	0	0.0005	0.0066	0.0036	0.001119	173	154602	rs150471028	0.0005	0.0005	0.0004	0.0007	0.0037	0.0005	0.0005	0.0034	0.0033	0	0.0023	3.826e-05	0	0.0001	0.0017	0.0003	0.0007	0.0037	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0002	0.0013	0.0010	0	0	0.0003	0	0	0	0	0.0005	0	0.0023	0.312	0.32141	T	0.246	0.23984	T	0.006	0.13644	B	0.007	0.12992	B	0.005592	0.01086	N	3.156860	1	0.08975	N	-0.02	0.05091	N	2.69	0.12268	T	-0.52	0.16187	N	0.039	0.01577	-0.9764	0.35816	T	0.003	0.00897	T	10	0.0052937865	0.00116	T	0.002333	0.04507	T	0.003	0.00094	.	.	0.0138822411134	0.00435	0.12379366770929005	0.12305	0.0670969358633	0.07497	0.2436953336	0.03133	T	0.002525	0.01914	T	-0.702593	0.00035	T	-0.784108	0.02331	T	0.0185076876855515	0.00566	T	0.157784	0.02071	T	0.013218225	0.00053	0.012743719	0.00000	0.013218225	0.00053	0.012743719	0.00000	-4.475	0.30705	T	.	.	0.067	0.08802	B	.;.;.	.;.;.	-1.381155	0.00374	0.007	0.35035392882797511	0.02176	0.00710	0.03005	N	AEFBI	0.055559	0.10200	N	-2.12225312794012	0.00114	0.004894654	-2.18613977114946	0.00120	0.005281627	0.998474159038588	0.37033	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.3	-8.6	0.00773	-2.409000	0.01119	-3.779000	0.02542	-1.084000	0.01555	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2864:0.0881:0.2148:0.4107	1.389	0.02112	840	0.37365	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	0.02381	1170.98	39	chr1	157544364	.	T	C	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=894;ExcessHet=0.0000;FS=0.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=-5.220e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:72,48:120:99:1185,0,1774	20	0	1	0
chr1	159015883	159015883	G	A	exonic	IFI16	.	nonsynonymous SNV	IFI16:NM_001206567:exon3:c.G277A:p.A93T	.	.	428	1078	15	1	0	17	0.00782329	.	.	2806089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.73	P	0.263	B	.	.	1.000	N	-0.75	N	3.69	T	-1.023	T	0.004	T	0.149	-0.164	3.199	-0.242	-0.006	-0.902	2.325	0.014	0.00359428024699	0.0052	0.00239617	0.0054	0.0013	0.0030	0	0.0023	0.0077	0.0066	0.0049	0.005401	835	154602	rs116270651	0.0063	0.0064	0.0063	0.0064	0.0073	0.0062	0.0062	0.0071	0.0071	0.0007	0.0044	0.0003	0	0.0027	0.0043	0.0073	0.0060	0.0049	0.0053	0.0053	0.0055	0.0052	0.0085	0.0050	0.0049	0.0079	0.0077	0.0014	0.0197	0.0067	0	0	0.0019	0.0068	0.0085	0.0080	0.0046	1.0	0.05262	T	1.0	0.05995	T	0.73	0.42641	P	0.263	0.39594	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	2.03	0.20959	T	1.4	0.03352	N	0.083	0.05929	-1.0226	0.22866	T	0.004	0.01295	T	9	0.004086405	0.00080	T	0.003594	0.08216	T	0.014	0.01968	.	.	0.191931220699	0.18833	0.044521644251599775	0.04396	0.466751589387	0.46072	0.2459654212	0.03355	T	0.001824	0.03242	T	-0.625759	0.00102	T	-0.663674	0.08021	T	0.00388578336838126	0.00041	T	0.320668	0.06474	T	0.018096011	0.00331	0.031434305	0.01732	0.018096011	0.00331	0.031434305	0.01732	-3.758	0.20178	T	.	.	0.066	0.09675	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.392076	0.02242	0.229	0.56921182028626138	0.05656	0.00037	0.00318	N	AEFGBCI	0.024370	0.01498	N	-1.58288373110136	0.01352	0.05892081	-1.59270044912762	0.01699	0.07721843	0.999999767281762	0.74766	0.730579	0.87903	0	0.52208	0.09955	0	0.59043	0.30614	0	0.648885	0.59868	0	.	.	2.7	-0.242	0.12396	-1.397000	0.02617	-3.098000	0.03063	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6094:0.0:0.1503:0.2403	2.325	0.03961	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1151.98	36	chr1	159015883	.	G	A	1151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.470e-01;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=0.589;SOR=0.751	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1166,0,1316	20	0	1	0
chr1	159205894	159205894	C	T	exonic	ACKR1	.	nonsynonymous SNV	ACKR1:NM_001122951:exon2:c.C461T:p.S154F	.	.	425	1081	15	0	1	16	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.887	P	0.595	P	0.306	N	0.988	N	-0.345	N	1.79	T	-1.075	T	0.023	T	0.34	3.003	16.02	2.07	0.677	1.436	7.494	0.127	.	0.0006	0.00259585	0.0021	0.0002	0.0003	0.0001	0.0002	0.0006	0.0011	0.0122	0.0018499	286	154602	rs147620003	0.0012	0.0012	0.0008	0.0015	0.0129	0.0011	0.0011	0.0123	0.0120	5.974e-05	0.0004	0.0002	2.519e-05	1.876e-05	0.0036	0.0004	0.0016	0.0129	0.0007	0.0007	0.0007	0.0008	0.0108	0.0006	0.0006	0.0084	0.0076	0.0001	0	0.0003	0	0	9.413e-05	0.0068	0.0006	0.0009	0.0108	0.086	0.33753	T	0.196	0.27943	T	0.887	0.48784	P	0.595	0.50587	P	0.306457	0.14508	N	0.506511	0.988358	0.24419	N	0.345	0.11182	N	1.34	0.34841	T	-0.81	0.22294	N	0.189	0.20660	-1.0754	0.08266	T	0.023	0.09696	T	10	0.008168638	0.00185	T	.	.	.	0.127	0.34888	.	.	0.349204839081	0.34528	0.39414579003088923	0.39329	0.0841297862296	0.09485	0.289785712957	0.08891	T	0.135551	0.46743	T	-0.497793	0.00588	T	-0.477434	0.24720	T	0.0270945296656597	0.01557	T	0.956904	0.83579	D	0.074649796	0.16766	0.08336655	0.19101	0.049851336	0.08915	0.09092037	0.21347	-0.764	0.00772	T	0.2587923289367664	0.34963	0.125	0.26263	B	.;.;.;.	.;.;.;.	3.444626	0.47939	22.5	0.99267088559129502	0.57423	0.28566	0.23589	N	AEFDBCI	0.047740	0.08073	N	-0.218723826749293	0.32365	1.824523	-0.143904829437812	0.33644	1.926659	0.992795635449124	0.32971	0.600919	0.35232	0	0.596877	0.49441	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.23	2.07	0.26004	0.969000	0.28967	2.470000	0.32893	-0.184000	0.09925	0.916000	0.31843	0.999000	0.35428	0.413000	0.27073	0.0:0.1704:0.5089:0.3206	7.494	0.26648	824	0.40336	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1713.98	39	chr1	159205894	.	C	T	1713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=851;ExcessHet=0.0000;FS=10.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.49;ReadPosRankSum=0.612;SOR=1.204	GT:AD:DP:GQ:PL	0/1:18,52:70:99:1728,0,465	20	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N	.	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.168	N	1.000	N	0.14	N	3.07	T	-0.940	T	0.010	T	0.017	-0.308	2.533	2.21	0.223	-1.239	2.806	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	5512.66	190	chr1	161048864	.	C	G	5512.66	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-5.721e+00;DP=4354;ExcessHet=20.9642;FS=217.040;InbreedingCoeff=-0.6084;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.61;ReadPosRankSum=1.77;SOR=13.867	GT:AD:DP:GQ:PL	0/1:141,67:214:99:619,0,2685	5	0	16	0
chr1	161599670	161599670	C	T	exonic	FCGR2C	.	unknown	UNKNOWN,	Thrombocytopenic purpura, autoimmune, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002329	36	154602	rs867055986	1.853e-05	3.63e-05	2.185e-05	1.518e-05	0.0004	1.269e-05	1.088e-05	6.149e-05	3.965e-05	0	0.0001	0	0	0	0.0004	1.623e-05	0	1.167e-05	3.534e-05	5.299e-05	4.114e-05	2.918e-05	7.265e-05	1.334e-05	8.51e-06	1.215e-05	6.37e-06	2.708e-05	0	7.265e-05	0	0	0	0	4.577e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.079868704	0.12898	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	.	.	.	.	.	.	.	.	.	.	-0.0334465	0.46913	T	-0.28582	0.46205	T	.	.	.	0.568443	0.20183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08368	B	.	.	-0.138058	0.03420	0.623	0.79083217762414237	0.12583	0.00016	0.00195	N	AEFI	0.028309	0.02470	N	.	.	.	.	.	.	2.43240643371598E-4	0.06141	0.262962	0.04601	0	0.304816	0.05638	0	0.083675	0.02720	0	0.058706	0.01089	0	.	.	0.41	-0.82	0.10280	-2.061000	0.01478	-1.350000	0.05649	-2.483000	0.00269	0.010000	0.18352	0.000000	0.08366	0.003000	0.05239	.	.	.	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	362.98	34	chr1	161599670	.	C	T	362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.81;DP=837;ExcessHet=0.0000;FS=2.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=33.34;MQRankSum=-6.360e-01;QD=5.85;ReadPosRankSum=2.30;SOR=1.262	GT:AD:DP:GQ:PL	0/1:45,17:62:99:377,0,1122	20	0	1	0
chr1	169550696	169550696	G	A	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon9:c.C1340T:p.P447L,	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	.	0	1520	1	0	1	2	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.857	P	0.002	N	0.926	D	1.82	L	-5.09	D	1.082	D	0.938	D	0.724	3.599	18.32	5.49	2.739	6.096	10.878	0.618	0.399480711972	7.7e-05	.	3.298e-05	0	0	0	0	4.498e-05	0	6.058e-05	2.59e-05	4	154602	rs368387623	1.437e-05	1.437e-05	1.361e-05	1.513e-05	2.987e-05	9.23e-06	7.84e-06	5.75e-06	4.55e-06	2.987e-05	0	0	2.52e-05	0	0	1.079e-05	9.935e-05	1.159e-05	2.629e-05	2.627e-05	0	5.382e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.41e-05	0	0	0.028	0.46513	D	0.08	0.42086	T	0.997	0.70673	D	0.857	0.61067	P	0.002315	0.36806	N	0.302332	0.999991	0.81001	D	2.585	0.75554	M	-5.09	0.98684	D	-7.03	0.93810	D	0.392	0.43320	1.082	0.98947	D	0.938	0.97954	D	9	0.569925	0.65261	D	0.399481	0.93366	D	0.618	0.85144	.	.	0.912855958394	0.91197	0.852963332444918	0.85258	0.381810344723	0.39529	0.591434836388	0.51697	T	0.431246	0.77943	T	0.249648	0.78567	D	0.228483	0.84594	D	0.836836218833923	0.49071	D	0.880112	0.60710	D	0.12226369	0.28735	0.17847614	0.40520	0.12226369	0.28734	0.17847614	0.40519	-5.715	0.43827	T	0.8736941785216383	0.93362	0.652	0.71022	P	.;.	.;.	3.607858	0.50997	23.0	0.99741095185605277	0.83482	0.88234	0.48071	D	AEFGBCI	0.770964	0.70574	D	0.729697727500512	0.81579	7.555479	0.737095285657593	0.85188	8.507144	0.997104245415345	0.35279	0.533608	0.22052	0	0.615948	0.52940	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	5.49	5.49	0.81022	5.365000	0.65866	11.744000	0.95258	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1155:0.0:0.8845:0.0	10.878	0.46133	770	0.49152	.;.	.	.	.	.	.	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	810.98	34	chr1	169550696	.	G	A	810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=769;ExcessHet=0.0000;FS=0.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-8.930e-01;SOR=0.880	GT:AD:DP:GQ:PL	0/1:40,33:73:99:825,0,1002	20	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	21772.6	79	chr1	175160810	.	C	T,*	21772.6	.	AC=20,9;AF=0.476,0.214;AN=42;BaseQRankSum=0.238;DP=1529;ExcessHet=1.3217;FS=0.603;InbreedingCoeff=-0.0027;MLEAC=20,9;MLEAF=0.476,0.214;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=1.92;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,30,0:67:99:1|0:175160788_C_CCTT:818,0,1332,930,1422,2351:175160788	2	5	6	0
chr1	175403578	175403578	T	G	exonic	TNR	.	nonsynonymous SNV	TNR:NM_003285:exon4:c.A538C:p.N180H,	.	.	415	1091	16	0	0	16	0.00727934	.	.	226705	Parkinson_disease|not_provided	MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600,Orphanet:319705|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.19	T	0.996	D	0.823	P	0.000	D	0.992	D	2.165	M	-0.23	T	-0.348	T	0.333	T	0.264	4.213	21.9	6.02	2.311	7.901	16.206	0.235	0.015143269266	0.0040	0.00219649	0.0043	0.0014	0.0017	0	0.0006	0.0049	0.0033	0.0099	0.0043208	668	154602	rs61731112	0.0055	0.0055	0.0053	0.0056	0.0103	0.0054	0.0053	0.0098	0.0095	0.0007	0.0020	0.0008	0	0.0006	0.0040	0.0059	0.0049	0.0103	0.0034	0.0034	0.0036	0.0033	0.0108	0.0032	0.0031	0.0085	0.0076	0.0010	0	0.0017	0.0009	0	0.0011	0	0.0056	0.0043	0.0108	0.059	0.37536	T	0.004	0.74150	D	0.943	0.53072	P	0.646	0.52296	P	0.000002	0.62929	D	0.099447	0.991967	0.41520	D	2.635	0.77114	M	-0.23	0.66652	T	-3.04	0.62863	D	0.45	0.53181	-0.3481	0.73608	T	0.333	0.70051	T	10	0.012104988	0.00261	T	0.015143	0.35698	T	0.235	0.53788	.	.	0.680615255321	0.67789	0.30089657972397504	0.30002	0.594975163302	0.54791	0.480174928904	0.36081	T	0.706665	0.91599	D	-0.35142	0.04638	T	-0.270886	0.47730	T	0.0187850564752614	0.00590	T	0.90061	0.65471	D	0.3260392	0.55144	0.29151744	0.55177	0.3260392	0.55144	0.29151744	0.55176	-6.494	0.50240	T	.	.	0.151	0.33342	B	.;.	.;.	4.181553	0.62951	24.5	0.99696345106303663	0.80316	0.99641	0.98258	D	AEFDBI	0.943134	0.94859	D	0.711461017713127	0.80383	7.282298	0.738660711939347	0.85306	8.541781	0.738967395217989	0.23180	0.553676	0.25195	0	0.563428	0.19063	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.02	6.02	0.97559	7.882000	0.85748	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.206	0.81949	874	0.30607	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1502.98	33	chr1	175403578	.	T	G	1502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.167e+00;DP=780;ExcessHet=0.0000;FS=1.879;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.70;ReadPosRankSum=-2.540e-01;SOR=0.996	GT:AD:DP:GQ:PL	0/1:34,56:90:99:1517,0,915	20	0	1	0
chr1	179087996	179087996	C	T	exonic	TOR3A	.	nonsynonymous SNV	TOR3A:NM_022371:exon4:c.C725T:p.P242L,	.	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.989	D	0.791	P	0.000	D	1.000	D	3.07	M	1.4	T	-0.658	T	0.202	T	0.324	2.808	15.35	4.42	1.241	2.357	8.342	0.227	0.0974155190817	.	0.000199681	0.0001	0	0	0	0.0003	6.03e-05	0	0.0004	9.06e-05	14	154602	rs546288971	8.006e-05	8.14e-05	2.723e-05	0.0001	0.0008	6.803e-05	6.357e-05	0.0007	0.0006	0	0	0	0	0.0003	0.0005	1.709e-05	0.0001	0.0008	7.221e-05	7.217e-05	3.854e-05	0.0001	0.0006	3.968e-05	3.125e-05	0.0002	8.985e-05	0	0	0	0	0	0.0005	0	4.41e-05	0	0.0006	0.005	0.63226	D	0.011	0.64786	D	0.989	0.62824	D	0.791	0.57754	P	0.000097	0.51296	D	0.174679	1	0.81001	D	3.54	0.93167	H	1.4	0.33630	T	-6.96	0.93509	D	0.234	0.29429	-0.6584	0.62346	T	0.202	0.55933	T	10	0.19838926	0.35807	T	0.097416	0.76770	D	0.227	0.52620	0.573	0.69695	0.570790795014	0.56744	0.6678901037297662	0.66727	0.303287657907	0.32650	0.439022421837	0.30443	T	0.303937	0.67627	T	-0.352006	0.04602	T	-0.355113	0.38618	T	0.380610548070494	0.28206	T	0.845015	0.52334	T	0.19701724	0.41550	0.1848789	0.41567	0.19701724	0.41550	0.1848789	0.41567	-8.427	0.66138	D	.	.	0.106	0.26451	B	.;.;.	.;.;.	3.549879	0.49897	22.9	0.99684273013473856	0.79507	0.80646	0.40230	D	AEFDBHCI	0.584701	0.58342	D	0.400768499213686	0.61464	4.347979	0.279115994315909	0.54321	3.597486	0.999999999999284	0.74766	0.730579	0.87903	0	0.698795	0.70079	0	0.749866	0.98131	0	0.648885	0.59868	0	.	.	5.33	4.42	0.52775	1.931000	0.39763	4.001000	0.41074	-0.176000	0.10722	0.193000	0.24225	0.999000	0.35428	0.571000	0.30675	0.153:0.7685:0.0:0.0785	8.342	0.31413	488	0.76887	.;.;.	.	.	.	.	.	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	798.98	35	chr1	179087996	.	C	T	798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.050e-01;DP=799;ExcessHet=0.0000;FS=1.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.50;ReadPosRankSum=-4.930e-01;SOR=0.531	GT:AD:DP:GQ:PL	0/1:56,38:94:99:813,0,1400	20	0	1	0
chr1	180183935	180183935	T	C	exonic	QSOX1	.	nonsynonymous SNV	QSOX1:NM_001004128:exon7:c.T772C:p.F258L	.	.	426	1095	1	0	0	1	0.000456413	.	.	3308379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.63	T	0.414	B	0.302	B	0.000	D	0.926	D	2.085	M	3.65	T	-1.086	T	0.044	T	0.427	0.844	8.410	3.02	0.970	3.721	6.912	0.174	0.00537943265676	7.7e-05	.	9.084e-05	0	8.637e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs377358722	6.774e-05	6.772e-05	5.31e-05	8.252e-05	0.0010	5.671e-05	5.261e-05	0.0005	0.0003	0	2.237e-05	0	0	0	0.0010	6.117e-05	9.936e-05	0.0002	6.57e-05	6.567e-05	3.854e-05	9.412e-05	0.0001	3.516e-05	2.616e-05	6.804e-05	5.087e-05	0	0	6.54e-05	0	0	0	0	0.0001	0	0	0.117	0.34095	T	0.192	0.33109	T	0.322	0.35185	B	0.302	0.41118	B	0.000002	0.62929	D	0.140005	0.925755	0.36814	D	2.23	0.63091	M	3.65	0.15843	T	-4.32	0.76655	D	0.302	0.41459	-1.0860	0.06227	T	0.044	0.18783	T	10	0.24672094	0.41941	T	0.005379	0.13801	T	0.174	0.44019	0.413	0.45052	0.239305524855	0.23518	0.6316733159188503	0.63101	0.226845316457	0.25228	0.598880887032	0.52746	T	0.230147	0.59614	T	-0.29542	0.09098	T	-0.425459	0.30451	T	0.401188284158707	0.28987	T	0.688631	0.29780	T	0.4697587	0.65275	0.2551407	0.51192	0.4697587	0.65276	0.2551407	0.51191	-8.59	0.65241	D	.	.	0.725	0.74005	P	.;.	.;.	3.559732	0.50079	22.9	0.75496995653812093	0.11098	0.86389	0.45659	D	AEFDBI	0.222481	0.34697	N	-0.521760001378241	0.21377	1.134048	-0.524155859448656	0.21497	1.163239	0.602208084490153	0.21735	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	3.02	0.33970	3.830000	0.55469	4.072000	0.41672	-0.157000	0.11712	1.000000	0.71638	1.000000	0.68203	0.090000	0.17789	0.0:0.0821:0.1529:0.765	6.912	0.23520	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	936.98	41	chr1	180183935	.	T	C	936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.388;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=0.983;SOR=0.672	GT:AD:DP:GQ:PL	0/1:66,42:108:99:951,0,1624	20	0	1	0
chr1	182527656	182527656	T	G	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon11:c.T2009G:p.I670S	.	.	438	1074	10	0	0	10	0.00463392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0079	0.00658946	0.0040	0.0207	0.0024	0	0	0.0033	0	0.0001	0.0011449	177	154602	rs112168593	0.0013	0.0013	0.0014	0.0012	0.0242	0.0013	0.0012	0.0228	0.0222	0.0242	0.0031	0.0120	0	0	0.0214	0.0003	0.0033	0.0002	0.0074	0.0074	0.0079	0.0070	0.0232	0.0071	0.0069	0.0220	0.0215	0.0232	0	0.0040	0.0138	0	0	0.0306	0.0005	0.0057	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.015	0.00187	N	4.66	0.01756	T	1.36	0.00878	N	0.067	0.03956	.	.	.	.	.	.	.	0.002305597	0.00034	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	0.16437672724921135	0.16357	.	.	0.313681006432	0.12463	T	1.22E-4	0.00015	T	-0.681751	0.00047	T	-0.734479	0.04127	T	.	.	.	0.135986	0.01074	T	0.044344943	0.07074	0.059720792	0.11255	0.044344943	0.07073	0.059720792	0.11255	-2.989	0.10063	T	.	.	0.071	0.04002	B	.	.	-1.334697	0.00410	0.008	0.27816065459680284	0.01399	0.00167	0.00991	N	AEFBI	0.023133	0.01247	N	.	.	.	.	.	.	0.99797975429368	0.36262	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.36	-8.71	0.00734	-3.871000	0.00389	-3.290000	0.02902	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.439000	0.27649	0.2699:0.3354:0.1355:0.2593	1.035	0.01449	819	0.41190	RGS 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	563.98	35	chr1	182527656	.	T	G	563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.470e-01;DP=783;ExcessHet=0.0000;FS=0.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.71;ReadPosRankSum=1.93;SOR=0.910	GT:AD:DP:GQ:PL	0/1:56,28:84:99:578,0,1443	20	0	1	0
chr1	182530821	182530821	C	T	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon13:c.C2275T:p.H759Y	.	.	433	1079	10	0	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00658946	0.0038	0.0203	0.0024	0	0	0.0031	0	0.0001	0.000925	143	154602	rs144974547	0.0013	0.0012	0.0013	0.0012	0.0240	0.0012	0.0012	0.0225	0.0220	0.0240	0.0030	0.0120	0	0	0.0194	0.0003	0.0031	0.0002	0.0073	0.0073	0.0077	0.0068	0.0226	0.0069	0.0068	0.0214	0.0209	0.0226	0	0.0040	0.0138	0	0	0.0272	0.0005	0.0057	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	1.95	0.22474	T	-0.86	0.23372	N	0.132	0.12770	.	.	.	.	.	.	.	0.004850656	0.00103	T	.	.	.	.	.	.	.	0.154104182512	0.14974	0.12006430632421262	0.11933	.	.	0.235803753138	0.02425	T	0.004882	0.04301	T	-0.681519	0.00047	T	-0.734146	0.04142	T	.	.	.	0.19598	0.02159	T	0.038350973	0.05092	0.0516819	0.08365	0.038350973	0.05092	0.0516819	0.08364	-3.663	0.18773	T	.	.	0.072	0.04356	B	.	.	-0.711441	0.01294	0.069	0.20450242423031911	0.00736	0.02532	0.07044	N	AEFGBI	0.030228	0.03004	N	.	.	.	.	.	.	1.04305301671019E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	-2.39	0.06223	0.255000	0.18102	-0.308000	0.10061	-0.798000	0.03190	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.1256:0.4565:0.1231:0.2948	2.042	0.03335	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	1665.98	35	chr1	182530821	.	C	T	1665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.285;DP=780;ExcessHet=0.0000;FS=3.055;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.36;ReadPosRankSum=-1.226e+00;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,43:78:99:0|1:182530821_C_T:1680,0,1340:182530821	20	0	1	0
chr1	182530822	182530822	A	G	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon13:c.A2276G:p.H759R	.	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00658946	0.0038	0.0203	0.0024	0	0	0.0031	0	0.0001	0.0009379	145	154602	rs147958249	0.0013	0.0012	0.0013	0.0012	0.0239	0.0012	0.0012	0.0225	0.0219	0.0239	0.0030	0.0120	2.804e-05	0	0.0194	0.0003	0.0031	0.0002	0.0073	0.0073	0.0077	0.0068	0.0226	0.0069	0.0068	0.0214	0.0209	0.0226	0	0.0040	0.0138	0	0	0.0272	0.0005	0.0057	0.0008	0.664	0.04643	T	0.781	0.04316	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.955	0.01252	N	2.07	0.20387	T	1.04	0.01332	N	0.051	0.02272	.	.	.	.	.	.	.	0.0041003823	0.00081	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.11975255764603225	0.11902	.	.	0.23224376142	0.02138	T	1.98E-4	0.00034	T	-0.780794	0.00011	T	-0.876747	0.00681	T	.	.	.	0.133387	0.01053	T	0.022936882	0.00993	0.02663198	0.00763	0.022936882	0.00993	0.02663198	0.00763	-3.896	0.22243	T	.	.	0.055	0.00412	B	.	.	-1.467085	0.00315	0.005	0.33398853155839092	0.01987	0.00148	0.00897	N	AEFGBI	0.014112	0.00213	N	.	.	.	.	.	.	0.00893469739416133	0.11767	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	-5.75	0.02190	-1.406000	0.02596	-2.018000	0.04337	-0.671000	0.04298	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2943:0.1926:0.2978:0.2152	0.432	0.00441	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	1665.98	35	chr1	182530822	.	A	G	1665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.659;DP=780;ExcessHet=0.0000;FS=3.055;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.36;ReadPosRankSum=-1.156e+00;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,43:78:99:0|1:182530821_C_T:1680,0,1340:182530821	20	0	1	0
chr1	182551123	182551123	G	A	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon18:c.G2957A:p.R986H	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0117285555729	0.0009	0.000399361	0.0014	0	0	0	0	0.0032	0	0.0004	0.0003169	49	154602	rs182399502	0.0006	0.0006	0.0005	0.0006	0.0165	0.0006	0.0005	0.0138	0.0128	0.0002	0.0011	0.0122	0	0	0.0165	0.0002	0.0014	0.0004	0.0007	0.0007	0.0007	0.0007	0.0010	0.0006	0.0006	0.0006	0.0005	4.811e-05	0	0.0010	0.0138	0	0	0.0272	0.0005	0.0019	0.0002	0.106	0.29688	T	0.008	0.67890	D	0.27	0.31762	B	0.039	0.23607	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	1.85	0.24472	T	-1.19	0.30346	N	0.075	0.04913	.	.	.	.	.	.	.	0.0045185685	0.00093	T	0.011729	0.29644	T	.	.	.	.	0.0884992946249	0.08302	0.15745488202864302	0.15666	.	.	0.197746396065	0.00394	T	0.005563	0.05012	T	-0.55625	0.00267	T	-0.633785	0.10130	T	.	.	.	0.50295	0.15803	T	0.02917472	0.02370	0.038722366	0.03805	0.02917472	0.02370	0.038722366	0.03804	-1.357	0.01496	T	.	.	0.081	0.08129	B	.	.	0.014488	0.04385	1.132	0.90745433001771636	0.19995	0.01856	0.05735	N	AEFBHCI	0.014699	0.00246	N	.	.	.	.	.	.	3.1799352647016E-4	0.06498	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	4.68	-2.24	0.06518	-1.438000	0.02523	-1.338000	0.05679	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.5079:0.1629:0.3292:0.0	4.975	0.13484	748	0.52143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	558.98	33	chr1	182551123	.	G	A	558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.827e+00;DP=749;ExcessHet=0.0000;FS=1.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=0.699;SOR=0.515	GT:AD:DP:GQ:PL	0/1:33,27:60:99:573,0,796	20	0	1	0
chr1	183227547	183227547	A	G	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon10:c.A1318G:p.I440V	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	.	0	1491	31	0	0	31	0.0102887	.	.	267281	Junctional_epidermolysis_bullosa|not_provided	MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.44	T	0.983	D	0.672	P	0.019	N	1.000	N	0.345	N	2.49	T	-1.012	T	0.027	T	0.118	0.151	4.811	0.531	-0.157	0.901	5.653	0.032	0.00705583072782	0.0011	0.000599042	0.0015	9.61e-05	0.0025	0	0	0.0020	0.0022	0.0008	0.0013842	214	154602	rs147889360	0.0011	0.0011	0.0010	0.0011	0.0277	0.0010	0.0010	0.0242	0.0229	0.0008	0.0023	0.0167	0	0	0.0277	0.0006	0.0023	0.0009	0.0014	0.0014	0.0012	0.0015	0.0027	0.0012	0.0012	0.0021	0.0019	0.0002	0	0.0027	0.0181	0	0	0.0306	0.0011	0.0033	0.0012	0.89	0.02575	T	0.37	0.16473	T	0.002	0.45051	B	0.007	0.42549	B	0.018984	0.27357	N	0.342667	1	0.08975	N	1.04	0.26193	L	2.49	0.16351	T	0.07	0.06138	N	0.251	0.29889	-1.0117	0.26385	T	0.027	0.11751	T	10	0.004930675	0.00106	T	0.007056	0.18704	T	0.032	0.07718	.	.	0.181679512989	0.17746	0.3558394956187867	0.35497	0.0928677804986	0.10486	0.367219299078	0.20432	T	0.045062	0.27007	T	-0.628756	0.00097	T	-0.682108	0.06855	T	0.0260152463091466	0.01408	T	0.572443	0.20452	T	0.017570067	0.00283	0.022053603	0.00238	0.020624548	0.00627	0.021753127	0.00217	-2.714	0.07421	T	0.13715153916806236	0.15064	0.067	0.02609	B	.;.	.;.	0.861831	0.12343	8.882	0.62781003598174046	0.07051	0.22980	0.21926	N	AEFGBCI	0.349449	0.44323	N	-0.759392715148493	0.14379	0.7158105	-0.756529567948807	0.15562	0.8190704	0.999908789422852	0.45458	0.706298	0.61202	0	0.491513	0.07743	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	5.57	0.531	0.16303	0.570000	0.23357	0.438000	0.18395	-0.076000	0.16278	0.000000	0.06391	0.433000	0.24865	0.963000	0.52385	0.559:0.2425:0.1985:0.0	5.653	0.16903	498	0.76166	.;EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1565.98	33	chr1	183227547	.	A	G	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.238e+00;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=1.49;SOR=0.655	GT:AD:DP:GQ:PL	0/1:55,71:126:99:1580,0,1250	20	0	1	0
chr1	183542209	183542209	G	A	exonic	SMG7	.	nonsynonymous SNV	SMG7:NM_001174061:exon13:c.G1423A:p.A475T	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	0.561	N	1.000	N	0.205	N	2.26	T	-0.950	T	0.022	T	0.208	0.759	8.020	0.237	-0.225	0.537	5.898	0.076	0.00243736764433	.	.	4.127e-05	0	0	0.0002	0	4.505e-05	0	0	3.23e-05	5	154602	rs762238851	2.052e-05	2.052e-05	2.178e-05	1.925e-05	0.0002	1.456e-05	1.264e-05	2.194e-05	1.43e-05	0	0	0	7.558e-05	0	0.0002	1.709e-05	3.311e-05	5.797e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.413	0.13699	T	1.0	0.07568	T	0.0	0.02946	B	0.0	0.01387	B	0.561311	0.11333	N	0.828915	1	0.08975	N	-0.345	0.03330	N	2.25	0.22678	T	0.23	0.11185	N	0.043	0.02462	-0.9496	0.41040	T	0.022	0.09559	T	10	0.026864976	0.00844	T	0.002437	0.04813	T	0.076	0.22200	0.164	0.06842	0.258436476835	0.25460	0.12941891495100005	0.12866	0.129818777364	0.14634	0.250475764275	0.03818	T	0.010948	0.09827	T	-0.493049	0.00626	T	-0.645684	0.09260	T	0.00566275116164346	0.00062	T	0.79972	0.44511	T	0.020865012	0.00661	0.0334215	0.02234	0.020865012	0.00661	0.0334215	0.02234	-3.563	0.17871	T	.	.	0.062	0.02639	B	.;.;.;.;.;.	.;.;.;.;.;.	0.838812	0.12104	8.656	0.86540434697327595	0.16605	0.06901	0.12927	N	AEFBI	0.047227	0.07929	N	-0.984698222213357	0.08929	0.4206251	-0.924479713625084	0.11517	0.587208	0.0567898707025779	0.15068	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	0.237	0.14737	0.559000	0.23190	0.812000	0.21762	0.676000	0.76740	0.000000	0.06391	0.116000	0.22850	0.994000	0.71098	0.3348:0.0:0.5477:0.1175	5.898	0.18190	470	0.78111	.;.;.;.;.;.	.	.	.	.	.	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	902.98	33	chr1	183542209	.	G	A	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.070e+00;DP=762;ExcessHet=0.0000;FS=1.022;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=-1.226e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/1:27,32:59:99:917,0,776	20	0	1	0
chr1	184754587	184754587	T	G	exonic	EDEM3	.	nonsynonymous SNV	EDEM3:NM_001319960:exon1:c.A60C:p.R20S	.	.	429	1044	48	1	0	50	0.0233863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.0	B	0.0	B	0.139	N	1.000	D	0	N	-0.61	T	-1.061	T	0.042	T	0.17	1.465	10.84	4.76	1.231	1.683	10.384	0.094	.	.	0.0119808	0.0072	0.0013	0.0020	0.0414	0.0005	0.0026	0.0076	0.0151	0.0052781	816	154602	rs193034365	0.0030	0.0030	0.0027	0.0033	0.0248	0.0029	0.0029	0.0235	0.0230	0.0005	0.0011	0.0068	0.0248	7.626e-05	0.0128	0.0014	0.0058	0.0135	0.0028	0.0028	0.0029	0.0028	0.0357	0.0026	0.0025	0.0315	0.0299	0.0005	0	0.0016	0.0069	0.0357	0.0002	0.0034	0.0016	0.0052	0.0110	0.987	0.01979	T	0.745	0.04895	T	0.0	0.02946	B	0.0	0.01387	B	0.139084	0.18355	N	0.501789	0.999987	0.18198	N	0	0.06538	N	-0.61	0.71779	T	0.53	0.02808	N	0.111	0.09772	-1.0611	0.11483	T	0.042	0.18076	T	10	0.007667631	0.00174	T	.	.	.	0.094	0.27141	0.619	0.75347	0.5688587536	0.56550	0.2612104138876145	0.26034	0.174374383467	0.19631	0.731880187988	0.71781	T	0.019733	0.15664	T	-0.374854	0.03356	T	-0.279093	0.46896	T	0.039269934940123	0.03559	T	0.305069	0.05837	T	0.09925845	0.23422	0.115757614	0.27944	0.1345001	0.31247	0.115757614	0.27943	-4.335	0.28664	T	.	.	0.104	0.19032	B	.	.	2.720633	0.35583	19.94	0.80142828398531007	0.13064	0.00895	0.03516	N	ALL	.	.	.	-0.544015440680604	0.20671	1.091455	-0.319936607149643	0.27455	1.52358	0.999999999999222	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	4.76	4.76	0.60189	1.851000	0.38978	8.248000	0.76859	-0.128000	0.13240	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:0.8045:0.1955	10.384	0.43312	583	0.69484	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1268.98	39	chr1	184754587	.	T	G	1268.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.830e-01;DP=882;ExcessHet=0.0000;FS=0.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=-9.880e-01;SOR=0.783	GT:AD:DP:GQ:PL	0/1:67,56:123:99:1283,0,1670	20	0	1	0
chr1	186326198	186326200	TCA	-	exonic	TPR	.	nonframeshift deletion	TPR:NM_003292:exon41:c.5925_5927del:p.D1975del,	.	.	421	1093	6	0	2	8	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0001	0	8.237e-05	0	0.0005	0.0001294	20	154602	rs748538527	8.108e-05	0.0002	6.566e-05	9.665e-05	0.0006	6.899e-05	6.449e-05	0.0005	0.0005	3.003e-05	8.975e-05	0	0.0002	3.758e-05	0	3.796e-05	0.0001	0.0006	4.601e-05	4.597e-05	3.856e-05	5.382e-05	9.653e-05	2.11e-05	1.527e-05	3.249e-05	1.915e-05	9.653e-05	0	6.55e-05	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3503.94	34	chr1	186326197	.	TTCA	T	3503.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.410e-01;DP=920;ExcessHet=0.0000;FS=6.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.98;ReadPosRankSum=0.619;SOR=0.369	GT:AD:DP:GQ:PL	0/1:77,90:167:99:3518,0,2916	20	0	1	0
chr1	196673944	196673944	T	A	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon3:c.T332A:p.V111E	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	.	1	1518	3	0	0	3	0.000987167	.	.	1392763	not_provided|Factor_H_deficiency|Basal_laminar_drusen|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|Age_related_macular_degeneration_4	MedGen:C3661900|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	1.0	D	0.982	D	.	.	0.578	D	0.655	N	0.01	T	-0.783	T	0.212	T	0.786	2.069	12.88	4.3	2.088	1.751	8.814	0.350	0.313858652385	.	0.000399361	0.0001	0	0	0	0	0	0	0.0009	0.00011	17	154602	rs576819823	4.729e-05	4.788e-05	3.683e-05	5.784e-05	0.0007	3.801e-05	3.482e-05	0.0006	0.0005	0	0	0	0	0	0	9.012e-07	9.95e-05	0.0007	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.014e-05	0	0	0	0	0	0	0	0	0	0.0006	0.218	0.19090	T	0.278	0.21812	T	0.959	0.55135	D	0.44	0.45726	B	.	.	.	.	0.578384	0.32353	D	.	.	.	0.01	0.62459	T	-2.4	0.59059	N	0.407	0.44761	-0.7829	0.56138	T	0.212	0.57241	T	9	0.18481752	0.33874	T	0.313859	0.91268	D	0.350	0.67142	0.654	0.79172	0.936195021678	0.93553	0.869237624239863	0.86888	0.320435136763	0.34251	0.426937609911	0.28790	T	0.028569	0.20668	T	-0.15196	0.28005	T	-0.076562	0.65155	T	0.165661890906554	0.18280	T	0.625137	0.26417	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.42563	B	.;.;.	.;.;.	4.246316	0.64416	24.7	0.97701422969332063	0.35436	0.67313	0.33388	D	AEFBI	0.771579	0.70617	D	-0.00422194402697867	0.41664	2.496153	0.0996153952888516	0.44530	2.732971	0.00167385162477552	0.08770	0.706298	0.61202	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.47	4.3	0.50540	2.435000	0.44469	4.994000	0.46548	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1663:0.0:0.0:0.8337	8.814	0.34144	545	0.72614	.;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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	710.98	38	chr1	196673944	.	T	A	710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.057e+00;DP=843;ExcessHet=0.0000;FS=0.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=0.889;SOR=0.520	GT:AD:DP:GQ:PL	0/1:37,33:70:99:725,0,902	20	0	1	0
chr1	201209837	201209837	-	GGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4944_4945insGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG:p.S1650_G1651insKASFRDGLGGSGEMGSVNEAGYRKDLGAPKGMGS,	.	.	516	555	409	0	42	451	0.269256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0008	0	0	.	.	.	.	1.544e-05	0.0005	2.273e-05	7.867e-06	0.0002	7.64e-06	4.8e-06	6.16e-06	3.39e-06	0	0	0	0.0002	0	0	1.436e-05	5.053e-05	0	5.356e-05	0.0009	5.097e-05	5.641e-05	5.625e-05	8.87e-06	3.32e-06	.	.	0	0	0	0	0	0.0004	0	5.625e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14067.83	177	chr1	201209837	.	A	G,AGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	14067.83	.	AC=3,4;AF=0.214,0.286;AN=14;BaseQRankSum=1.99;DP=7537;ExcessHet=3.1160;FS=2.726;InbreedingCoeff=-0.4173;MLEAC=5,7;MLEAF=0.357,0.500;MQ=52.14;MQRankSum=-6.885e+00;QD=7.29;ReadPosRankSum=-1.433e+01;SOR=0.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,60,0:180:99:0|1:201209837_A_G:1811,0,4643,2172,4823,6995:201209837	0	0	3	14
chr1	203049733	203049733	C	T	exonic	PPFIA4	.	stopgain	PPFIA4:NM_001304331:exon13:c.C1477T:p.R493X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.068	U	1.000	D	.	.	.	.	.	.	.	.	.	3.344	17.26	4.67	2.419	2.479	12.656	.	.	.	.	3.169e-05	0	0	0.0002	0	0	0	0.0001	1.29e-05	2	154602	rs767596639	7.667e-06	9.577e-06	5.543e-06	9.817e-06	2.439e-05	4.11e-06	3.01e-06	4.05e-06	2.79e-06	0	0	0	0	0	0	8.198e-06	0	2.439e-05	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	.	.	.	.	.	.	.	.	.	.	.	.	0.067956	0.21706	U	0.221425	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.418	0.45803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0999489	0.64288	D	-0.0942068	0.63843	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant;.	High;.	9.347047	0.98806	40	0.99771366348730284	0.85918	0.91220	0.53096	D	AEFDBI	0.215136	0.34052	N	0.0825186690553071	0.45650	2.817864	0.166245378547797	0.48010	3.022786	0.999987995918358	0.51787	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.67	4.67	0.58089	1.090000	0.30514	4.785000	0.44861	0.594000	0.32500	0.942000	0.32722	1.000000	0.68203	0.995000	0.73285	0.2076:0.7924:0.0:0.0	12.656	0.56149	804	0.43891	.;.	.	.	.	.	.	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	1190.98	36	chr1	203049733	.	C	T	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-3.070e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1205,0,1117	20	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.999	D	0.985	D	0.000	D	0.998	D	1.7	L	0.01	T	-0.652	T	0.334	T	0.955	4.229	22.0	5.98	2.837	2.643	14.830	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	2825.06	151	chr1	204444146	.	C	T	2825.06	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-4.450e+00;DP=2570;ExcessHet=7.7275;FS=223.489;InbreedingCoeff=-0.3719;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=1.35;SOR=12.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,45:133:99:.:.:604,0,1800	10	0	11	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.985	D	0.000	D	1.000	D	1.005	L	0.14	T	-0.723	T	0.246	T	0.971	3.959	20.3	5.98	2.288	3.844	10.472	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1053.66	151	chr1	204444147	.	A	G	1053.66	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.399e+00;DP=2661;ExcessHet=3.5521;FS=172.132;InbreedingCoeff=-0.2533;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=1.46;SOR=11.360	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,35:134:99:.:.:101,0,2937	12	0	8	1
chr1	205620327	205620327	G	A	exonic	ELK4	.	nonsynonymous SNV	ELK4:NM_001973:exon3:c.C719T:p.T240I	.	.	428	1090	4	0	0	4	0.0018315	.	.	3238940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.001	B	0.458	N	1.000	N	0	N	1.74	T	-1.002	T	0.039	T	0.02	-0.019	3.916	-0.806	-0.161	0.461	6.300	0.027	0.00485244182574	0.0002	.	0.0002	0	8.637e-05	0	0	0.0003	0	6.056e-05	0.0001811	28	154602	rs146453123	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0003	0	4.472e-05	0.0049	2.519e-05	0	0.0010	4.137e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	8.82e-05	0.0001	9.694e-05	3.762e-05	2.575e-05	0	0	6.535e-05	0.0043	0	0	0.0068	8.82e-05	0.0005	0	0.066	0.49613	T	0.2	0.46632	T	0.0	0.02946	B	0.0	0.04355	B	0.458014	0.04852	N	1.272640	1	0.08975	N	1.5	0.37844	L	1.74	0.31731	T	-1.28	0.32185	N	0.028	0.00618	-1.0018	0.29401	T	0.039	0.16978	T	10	0.0050910413	0.00110	T	0.004852	0.12161	T	0.027	0.05988	.	.	0.224531998449	0.22054	0.18705025350684212	0.18623	0.14465064476	0.16340	.	.	.	0.33817	0.70746	T	-0.555061	0.00272	T	-0.742935	0.03768	T	0.0195704961100207	0.00660	T	0.486851	0.16939	T	0.030451909	0.02712	0.047192045	0.06744	0.030451909	0.02712	0.047192045	0.06744	-3.937	0.22858	T	.	.	0.075	0.10159	B	.;.	.;.	0.937911	0.13134	9.636	0.94497110314111188	0.24967	0.11866	0.16912	N	AEFBI	0.062387	0.11989	N	-1.18915013707969	0.05163	0.2347327	-1.1800873126502	0.06243	0.2998965	0.795611876203697	0.24093	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	-0.806	0.10327	1.501000	0.35301	3.327000	0.37595	-0.153000	0.12021	0.004000	0.16614	0.437000	0.24884	0.074000	0.16894	0.2547:0.3465:0.3988:0.0	6.300	0.20315	730	0.54327	.;.	.	.	.	.	.	Uncertain significance	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	1370.98	36	chr1	205620327	.	G	A	1370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=0.106;SOR=0.701	GT:AD:DP:GQ:PL	0/1:75,57:132:99:1385,0,1878	20	0	1	0
chr1	207717539	207717539	G	A	exonic	CR1L	.	nonsynonymous SNV	CR1L:NM_175710:exon11:c.G1490A:p.G497E,	.	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.962	D	.	.	0.902	N	3.115	M	-0.65	T	-0.351	T	0.465	T	0.513	2.981	15.94	3.01	1.639	4.125	10.123	0.424	0.0240218992012	0.0028	0.000798722	0.0022	0.0003	0.0007	0	0.0008	0.0031	0.0022	0.0027	0.0021022	325	154602	rs186427145	0.0025	0.0025	0.0025	0.0025	0.0028	0.0024	0.0024	0.0027	0.0027	0.0002	0.0007	0.0028	2.519e-05	0.0010	0.0009	0.0028	0.0022	0.0026	0.0017	0.0017	0.0021	0.0014	0.0031	0.0015	0.0015	0.0028	0.0026	0.0003	0	0.0005	0.0023	0	0.0011	0	0.0031	0.0019	0.0017	0.003	0.68238	D	0.0	0.92824	D	0.998	0.73220	D	0.962	0.70672	D	.	.	.	.	0.901532	0.27690	N	3.365	0.91266	M	-0.65	0.72237	T	-5.48	0.85692	D	0.671	0.67908	-0.3510	0.73524	T	0.465	0.79340	T	9	0.060646117	0.07482	T	0.024022	0.47001	T	0.424	0.73226	.	.	0.542808479177	0.53935	0.256220782512593	0.25536	0.662919153663	0.59002	0.32508045435	0.14191	T	0.049615	0.28359	T	-0.259814	0.12921	T	-0.149659	0.59275	T	0.0453611331822632	0.04668	T	0.535446	0.17943	T	0.38793644	0.59885	0.36811057	0.62107	0.38793644	0.59886	0.36811057	0.62106	-11.068	0.80029	D	.	.	0.157	0.34624	B	.	.	3.402943	0.47165	22.4	0.99374803517158505	0.61628	0.88545	0.48522	D	AEFBI	0.231576	0.35478	N	0.415654329274182	0.62281	4.441589	0.22934265178221	0.51481	3.330362	0.00471475255160148	0.10684	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.01	3.01	0.33872	4.379000	0.59342	5.361000	0.48400	0.368000	0.20244	1.000000	0.71638	1.000000	0.68203	0.301000	0.24523	0.0:0.0:1.0:0.0	10.123	0.41804	884	0.28482	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2157.98	34	chr1	207717539	.	G	A	2157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.040;DP=930;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.29;MQRankSum=3.78;QD=10.90;ReadPosRankSum=-8.570e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/1:105,93:198:99:2172,0,2612	20	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	1.0	D	0.998	D	0.000	D	0.999	D	1.795	L	-0.64	T	-0.354	T	0.438	T	0.77	3.715	18.87	4.24	0.943	5.925	12.458	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	789.99	105	chr1	212100360	.	A	G	789.99	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.330e+00;DP=2216;ExcessHet=1.1607;FS=79.885;InbreedingCoeff=-0.1403;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=1.42;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,17:113:99:0|1:212100360_A_G:108,0,3744:212100360	15	0	5	1
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	1.0	D	0.996	D	0.000	D	0.989	D	1.795	L	-0.53	T	-0.381	T	0.393	T	0.433	3.843	19.52	3.55	0.781	1.239	11.901	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2105	1408.15	87	chr1	212100361	.	C	G	1408.15	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.253e+00;DP=2254;ExcessHet=3.5521;FS=100.771;InbreedingCoeff=-0.2600;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=1.54;ReadPosRankSum=1.61;SOR=10.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,17:113:99:0|1:212100360_A_G:108,0,3744:212100360	11	0	8	2
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	1.0	D	0.998	D	0.000	D	1.000	D	1.845	L	-0.74	T	-0.175	T	0.536	D	0.259	3.999	20.5	5.41	2.697	4.959	19.553	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	1127.66	57	chr1	212100362	.	C	G	1127.66	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.580e+00;DP=1907;ExcessHet=2.5830;FS=91.638;InbreedingCoeff=-0.1887;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.46;ReadPosRankSum=1.70;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,17:113:99:0|1:212100360_A_G:108,0,3744:212100360	14	0	7	0
chr1	214645556	214645556	A	G	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.A5986G:p.S1996G,	Stromme syndrome, Autosomal recessive	.	421	1098	2	1	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.0	B	0.506	N	1.000	N	-0.805	N	0.78	T	-1.033	T	0.053	T	0.103	-1.080	0.162	-2.13	-0.271	-0.077	13.061	0.057	0.00307557025383	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420651187	4.104e-06	4.104e-06	5.445e-06	2.75e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-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	0.402	0.10412	T	0.394	0.15305	T	.	.	.	.	.	.	0.506143	0.05120	N	1.366580	1	0.08975	N	.	.	.	0.78	0.49358	T	-1.06	0.27669	N	0.103	0.08646	-1.0330	0.19490	T	0.053	0.22655	T	10	0.043306947	0.03165	T	0.003076	0.06636	T	0.057	0.16321	.	.	0.0482279557977	0.04254	0.015535985324263656	0.01509	0.0497193645507	0.05451	0.249759674072	0.03742	T	.	.	.	-0.314934	0.07320	T	-0.674671	0.07313	T	0.0314089257149707	0.02212	T	0.489851	0.15048	T	0.026220506	0.01653	0.033440735	0.02239	0.026220506	0.01653	0.033440735	0.02239	-4.957	0.36370	T	.	.	0.056	0.00496	B	.	.	-0.330764	0.02486	0.290	0.60498897640054228	0.06478	0.01885	0.05793	N	AEFBCI	0.021908	0.01031	N	-1.42816029369839	0.02394	0.105666	-1.40199971513235	0.03232	0.150352	0.834263486472987	0.24748	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	-2.13	0.06745	-0.281000	0.08489	0.053000	0.14027	-0.168000	0.11412	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4817:0.0:0.5183:0.0	13.061	0.58416	901	0.24189	.	.	.	.	.	.	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	1192.98	67	chr1	214645556	.	A	G	1192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.540e-01;DP=1401;ExcessHet=0.0000;FS=2.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=0.083;SOR=0.468	GT:AD:DP:GQ:PL	0/1:59,49:108:99:1207,0,1459	20	0	1	0
chr1	215680331	215680331	T	C	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon62:c.A12112G:p.T4038A,	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	0	1516	5	1	0	7	0.00230339	.	.	858903	Usher_syndrome_type_2A|Inborn_genetic_diseases|not_provided|Retinitis_pigmentosa_39	MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.69	T	0.992	D	0.887	P	0.000	D	1.000	N	1.39	L	0.4	T	-0.736	T	0.216	T	0.559	0.702	7.744	5.26	1.991	1.880	15.186	0.243	0.322929554422	.	.	3.299e-05	0	0	0	0	5.996e-05	0	0	2.59e-05	4	154602	rs754979740	4.583e-05	4.583e-05	5.717e-05	3.438e-05	0.0010	3.661e-05	3.347e-05	0.0005	0.0003	0	0	0	0	0	0.0010	4.946e-05	9.934e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	6.551e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.551e-05	0	0	0	0	4.41e-05	0	0	0.137	0.25979	T	0.058	0.46182	T	0.992	0.64738	D	0.887	0.62952	P	0.000296	0.46274	D	0.000000	0.526296	0.31528	N	1.76	0.45711	L	0.4	0.57261	T	-2.37	0.52289	N	0.094	0.07398	-0.7363	0.58642	T	0.216	0.57745	T	10	0.61584055	0.67700	D	0.32293	0.91528	D	0.243	0.54921	.	.	0.837083782604	0.83553	0.4737459772398402	0.47293	0.0335984887463	0.03527	0.322042942047	0.13731	T	0.095618	0.39657	T	-0.157273	0.27182	T	-0.307322	0.43947	T	0.133371478305574	0.15690	T	0.552645	0.19087	T	0.14400096	0.33072	0.17915915	0.40633	0.14400096	0.33072	0.17915915	0.40632	-5.196	0.38901	T	0.457450626276204	0.54020	0.073	0.04558	B	.	.	0.802268	0.11727	8.307	0.90258052451502069	0.19528	0.90504	0.51735	D	AEFBI	0.260781	0.37886	N	0.0634956574525399	0.44764	2.744671	-0.0032997096804105	0.39566	2.347937	0.0170806997554493	0.12909	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	5.26	0.73479	1.880000	0.39263	0.137000	0.15122	0.665000	0.62972	0.963000	0.33788	0.000000	0.08366	0.088000	0.17685	0.0:0.0:0.0:1.0	15.186	0.72687	656	0.62345	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2038.98	34	chr1	215680331	.	T	C	2038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.627;DP=834;ExcessHet=0.0000;FS=3.218;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.56;ReadPosRankSum=1.71;SOR=0.448	GT:AD:DP:GQ:PL	0/1:54,77:131:99:2053,0,1273	20	0	1	0
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.954	D	0.000	D	1.000	D	1.975	M	0.6	T	-0.423	T	0.324	T	0.434	5.220	33	5.46	2.579	8.461	18.965	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	396.55	55	chr1	220074013	.	G	A	396.55	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.491e+00;DP=1720;ExcessHet=2.5830;FS=279.111;InbreedingCoeff=-0.3038;MLEAC=9;MLEAF=0.281;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=0.665;SOR=11.761	GT:AD:DP:GQ:PL	0/1:60,20:80:35:35,0,1067	9	0	7	5
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S,	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.918	P	0.243	B	0.000	D	0.990	D	0.83	L	1.55	T	-1.120	T	0.056	T	0.262	3.544	18.08	5.73	2.861	6.815	20.260	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	372.12	113	chr1	220154029	.	G	C	372.12	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-2.626e+00;DP=1942;ExcessHet=7.7275;FS=214.208;InbreedingCoeff=-0.3437;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=0.39;ReadPosRankSum=-8.540e-01;SOR=12.523	GT:AD:DP:GQ:PL	0/1:50,23:81:49:49,0,686	10	0	11	0
chr1	221739728	221739728	A	G	exonic	DUSP10	.	nonsynonymous SNV	DUSP10:NM_007207:exon2:c.T17C:p.L6S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.986	D	0.842	N	1.000	D	0.805	L	3.6	T	-1.111	T	0.037	T	0.879	4.227	22.0	5.61	2.147	8.962	15.801	0.360	0.0391790014194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.917e-07	1.368e-06	0	1.395e-06	9.076e-07	0	0	.	.	0	0	0	0	0	0	9.076e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.986	0.76916	D	0.841643	0.07003	N	1.077800	1	0.81001	D	0.975	0.24501	L	3.6	0.04494	T	-0.59	0.17624	N	0.899	0.89912	-1.1115	0.02944	T	0.037	0.16160	T	10	0.7444325	0.75186	D	0.039179	0.58658	D	0.360	0.68052	0.11	0.02049	0.550885202691	0.54745	0.8136111555073962	0.81317	1.28636609278	0.82672	0.773925364017	0.78013	T	0.183662	0.53607	T	0.183493	0.72364	D	0.025799	0.72006	D	0.92934376001358	0.59335	D	0.805419	0.45334	T	0.2390642	0.46793	0.32787758	0.58681	0.2390642	0.46793	0.32787758	0.58681	-2.867	0.08818	T	.	.	0.643	0.70658	P	.	.	4.921596	0.81058	27.5	0.99854874203353206	0.93368	0.95059	0.63288	D	AEFDBHCI	0.897757	0.84029	D	0.687929479768234	0.78842	6.953603	0.725470477654434	0.84313	8.257233	0.999999999999695	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.687403	0.62504	0	0.616125	0.45549	0	.	.	5.61	5.61	0.85347	8.947000	0.92735	11.299000	0.92274	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.801	0.78227	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	0	0	0	0	0	0	0	0.02381	1791.98	37	chr1	221739728	.	A	G	1791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.500e-01;DP=935;ExcessHet=0.0000;FS=0.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-1.081e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/1:65,71:136:99:1806,0,1659	20	0	1	0
chr1	222628373	222628373	G	A	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.G1153A:p.D385N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.985	D	.	.	1.000	N	2.045	M	2.53	T	-0.571	T	0.293	T	0.042	5.409	34	5.06	2.499	5.701	17.745	0.206	0.0327850061945	.	0.000599042	0.0007	0	0	0	0	0	0.0011	0.0050	0.0005563	86	154602	rs564848897	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0043	0	0	0	2.52e-05	0	0.0002	2.698e-06	0.0004	0.0049	0.0001	0.0001	6.424e-05	0.0002	0.0044	9.142e-05	7.699e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0044	0.008	0.58626	D	0.353	0.70582	T	0.997	0.70673	D	0.921	0.65636	D	.	.	.	.	0.892925	0.35993	D	.	.	.	2.53	0.48769	T	-2.12	0.57275	N	0.243	0.52386	-0.5713	0.65963	T	0.293	0.66460	T	9	0.0072318614	0.00165	T	0.032785	0.54518	D	0.206	0.49396	0.344	0.33788	0.514072065251	0.51050	0.0495651754555107	0.04899	0.351519266258	0.36992	0.327500760555	0.14557	T	0.01311	0.11397	T	-0.555503	0.00270	T	-0.570314	0.15420	T	0.0733242928020612	0.09110	T	0.812519	0.47330	T	0.14263871	0.32817	0.17161663	0.39356	0.14263871	0.32817	0.17161663	0.39356	-4.372	0.29174	T	.	.	0.141	0.30817	B	.;.	.;.	4.028209	0.59550	24.1	0.99912468621328032	0.98167	0.99041	0.90363	D	AEFBI	0.502646	0.53497	D	0.442057289607951	0.63752	4.615298	0.348523991174695	0.58418	4.012244	0.999999997284595	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	4.753000	0.61880	5.641000	0.49149	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	17.745	0.88328	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1415.98	85	chr1	222628373	.	G	A	1415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=905;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=1.29;SOR=0.606	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1430,0,1012	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	0/1:13,9,0:22:99:339,0,499,378,526,904	8	0	12	0
chr1	227654936	227654936	G	T	exonic	ZNF678	.	nonsynonymous SNV	ZNF678:NM_001367911:exon3:c.G758T:p.R253I	.	.	.	.	.	.	.	.	.	.	.	2376244	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.199	B	0.033	B	.	.	1.000	N	2.34	M	1.83	T	-1.030	T	0.056	T	0.252	-0.335	2.414	-1.01	-0.551	-1.273	6.072	0.045	0.00260076746766	.	0.000199681	3.33e-05	0.0001	0	0	0	0	0	0.0002	3.88e-05	6	154602	rs527431317	1.301e-05	1.3e-05	9.537e-06	1.651e-05	0.0002	8.32e-06	6.71e-06	9.799e-05	7.844e-05	0	2.249e-05	0	2.524e-05	0	0	2.699e-06	0	0.0002	3.294e-05	3.284e-05	3.866e-05	2.696e-05	0.0002	1.263e-05	8e-06	3.248e-05	1.914e-05	9.646e-05	0	0	0	0	0	0	0	0	0.0002	0.334	0.12961	T	0.152	0.32249	T	0.199	0.29618	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	2.22	0.62911	M	1.83	0.24841	T	-1.28	0.32185	N	0.224	0.25253	-1.0300	0.20454	T	0.056	0.23753	T	9	0.08205789	0.13502	T	0.002601	0.05263	T	0.045	0.12272	0.723	0.85761	0.0846915920261	0.08053	0.020901992842201875	0.02043	0.0186665029899	0.01818	0.261111110449	0.05024	T	0.020573	0.16172	T	-0.411796	0.01934	T	-0.592625	0.13439	T	0.0256272535771132	0.01355	T	0.171083	0.01625	T	0.05159733	0.09499	0.07518834	0.16528	0.05159733	0.09499	0.07518834	0.16528	-6.692	0.51750	T	.	.	0.152	0.42506	B	.;.	.;.	0.804121	0.11749	8.324	0.62820814821451154	0.07061	0.00002	0.00064	N	AEFDBHCI	0.027752	0.02323	N	-1.25634944958282	0.04216	0.1898775	-1.42867694910006	0.02969	0.1376006	4.37243023116353E-4	0.06970	0.566229	0.32551	0	0.653731	0.59785	0	0.575934	0.27490	0	0.674467	0.66132	0	.	.	1.62	-1.01	0.09650	-0.423000	0.07102	.	.	-1.280000	0.01269	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3312:0.0:0.6688:0.0	6.072	0.19115	710	0.56735	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	1177.98	34	chr1	227654936	.	G	T	1177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.530e-01;DP=760;ExcessHet=0.0000;FS=0.931;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.59;ReadPosRankSum=-6.690e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/1:27,44:71:99:1192,0,651	20	0	1	0
chr1	228259762	228259762	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001271223:exon17:c.G5123A:p.R1708H,	.	.	0	1489	33	0	0	33	0.0109598	.	.	2816140	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.28	T	.	.	.	.	.	.	1.000	N	.	.	3.56	T	-0.972	T	0.011	T	0.106	-0.038	3.818	-2.54	-0.511	-1.194	12.965	0.014	.	0.0080	0.00239617	0.0084	0.0018	0.0030	0	0.0036	0.0133	0.0056	0.0024	0.0078783	1218	154602	rs147633098	0.0093	0.0093	0.0093	0.0093	0.0220	0.0092	0.0091	0.0189	0.0177	0.0016	0.0045	0.0283	0.0001	0.0060	0.0220	0.0102	0.0099	0.0026	0.0067	0.0067	0.0071	0.0063	0.0103	0.0064	0.0062	0.0097	0.0094	0.0017	0.0241	0.0046	0.0202	0	0.0051	0.0272	0.0103	0.0071	0.0017	.	.	.	0.081	0.41742	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.20609	N	.	.	.	3.56	0.04696	T	.	.	.	0.073	0.04668	-0.9723	0.36712	T	0.011	0.04321	T	6	0.003629744	0.00066	T	.	.	.	.	.	.	.	0.256793551483	0.25290	0.16994627065651727	0.16914	0.115633920596	0.13049	0.202615946531	0.00537	T	.	.	.	-0.695139	0.00039	T	-0.760908	0.03080	T	0.00463822941397851	0.00050	T	0.20008	0.02257	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	-0.010789	0.04210	1.027	0.81329423621141439	0.13632	0.01331	0.04588	N	AEFDBI	0.063747	0.12339	N	-0.793613011190379	0.13475	0.6641176	-0.938894624292241	0.11182	0.5680889	1.9642407017775E-4	0.05898	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.25	-2.54	0.05941	-1.658000	0.02079	-20.000000	0.00162	-0.887000	0.02411	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.6034:0.0:0.3966:0.0	12.965	0.57880	452	0.79239	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	TRIM11|RP11-245P10.4|TRIM17|GUK1|TRIM11	Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Skin_Sun_Exposed_Lower_leg	.	.	.	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	3071.98	33	chr1	228259762	.	G	A	3071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.672e+00;DP=905;ExcessHet=0.0000;FS=7.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.52;ReadPosRankSum=-6.500e-01;SOR=0.354	GT:AD:DP:GQ:PL	0/1:77,109:186:99:3086,0,2132	20	0	1	0
chr1	229486489	229486489	G	A	exonic	NUP133	.	nonsynonymous SNV	NUP133:NM_018230:exon11:c.C1382T:p.P461L,	.	.	432	1083	7	0	0	7	0.00322135	.	.	2058436	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.65	T	0.901	P	0.475	P	0.000	N	1.000	D	2.015	M	1.04	T	-1.044	T	0.035	T	0.419	3.550	18.11	4.3	1.321	6.520	13.987	0.303	.	0.0111	0.00998403	0.0034	0.0310	0.0023	0	0	0.0008	0.0022	0.0010	0.0033117	512	154602	rs35442997	0.0014	0.0015	0.0016	0.0013	0.0350	0.0014	0.0014	0.0334	0.0327	0.0350	0.0027	0.0045	0	0	0.0092	0.0004	0.0026	0.0013	0.0096	0.0096	0.0101	0.0090	0.0322	0.0092	0.0090	0.0308	0.0302	0.0322	0	0.0043	0.0038	0	0	0.0068	0.0004	0.0066	0.0004	0.015	0.52492	D	0.01	0.65728	D	0.901	0.49677	P	0.475	0.46927	P	0.000247	0.46924	N	0.251116	1	0.81001	D	2.645	0.77386	M	1.04	0.40218	T	-7.49	0.95015	D	0.848	0.84401	-1.0437	0.16207	T	0.035	0.15030	T	10	0.011242628	0.00247	T	.	.	.	0.303	0.62400	.	.	0.596373027241	0.59316	0.8607316831539459	0.86037	0.654707559036	0.58537	0.51627779007	0.41103	T	0.689195	0.90947	D	-0.371551	0.03517	T	-0.282109	0.46588	T	0.0792954601727821	0.09895	T	0.863714	0.56064	D	0.663883	0.76106	0.33143714	0.59002	0.663883	0.76107	0.33143714	0.59002	-7.718	0.59133	D	.	.	0.311	0.53853	B	.	.	4.685243	0.75020	26.3	0.99473740723852122	0.66472	0.98688	0.85598	D	AEFBI	0.492064	0.52886	N	0.227933375759623	0.52558	3.429105	0.235388365812326	0.51823	3.361534	0.987688502237334	0.31320	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.21	4.3	0.50540	6.731000	0.74591	8.628000	0.77841	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0737:0.0:0.9263:0.0	13.987	0.63854	884	0.28482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1470.98	33	chr1	229486489	.	G	A	1470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.810e-01;DP=891;ExcessHet=0.0000;FS=4.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=0.334;SOR=0.423	GT:AD:DP:GQ:PL	0/1:67,64:131:99:1485,0,1637	20	0	1	0
chr1	234398495	234398495	A	G	exonic	TARBP1	.	nonsynonymous SNV	TARBP1:NM_005646:exon26:c.T4130C:p.I1377T,	.	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.116	B	0.036	B	0.002	N	1.000	N	1.87	L	3.4	T	-0.964	T	0.018	T	0.086	1.187	9.825	4.72	1.034	3.562	9.088	0.119	0.00428299668018	7.7e-05	0.000599042	0.0003	0	0	0	0	0.0003	0.0011	0.0006	0.0002393	37	154602	rs138599154	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0011	5.981e-05	0.0001	0.0023	2.524e-05	0	0.0023	7.93e-05	0.0002	0.0007	0.0001	0.0001	0.0001	0.0001	0.0006	8.655e-05	7.248e-05	0.0002	8.375e-05	7.214e-05	0	6.533e-05	0.0003	0.0006	0	0	0.0001	0.0005	0.0002	0.154	0.24277	T	0.201	0.27503	T	0.116	0.26475	B	0.036	0.22909	B	0.002224	0.36970	N	0.271381	1	0.08975	N	1.39	0.34934	L	3.4	0.05642	T	-0.39	0.13611	N	0.084	0.06059	-0.9643	0.38350	T	0.018	0.07282	T	10	0.010417283	0.00232	T	0.004283	0.10373	T	0.119	0.33137	.	.	0.112648838833	0.10856	0.342553738638931	0.34168	0.0460589994829	0.05005	0.352499783039	0.18289	T	0.010785	0.09704	T	-0.555261	0.00271	T	-0.655875	0.08548	T	0.0275808968812889	0.01628	T	0.747925	0.36851	T	0.048386093	0.08426	0.045727223	0.06218	0.048386093	0.08425	0.045727223	0.06217	-3.179	0.12226	T	.	.	0.065	0.02012	B	.	.	1.996617	0.25370	16.74	0.9079720496356436	0.20046	0.65849	0.32876	D	AEFBI	0.084863	0.17202	N	-0.343161810233035	0.27524	1.510799	-0.252375151000784	0.29689	1.66541	0.999992166360724	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.85	4.72	0.59248	2.947000	0.48750	6.029000	0.52897	0.750000	0.87069	0.669000	0.28339	0.722000	0.26360	0.993000	0.69303	0.859:0.0:0.141:0.0	9.088	0.35751	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	0	0	0	0	0.04762	1496.11	35	chr1	234398495	.	A	G	1496.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.096;DP=812;ExcessHet=0.1072;FS=0.614;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=1.54;SOR=0.598	GT:AD:DP:GQ:PL	0/1:35,35:70:99:713,0,801	19	0	2	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.288	B	0.157	B	0.015	N	1.000	N	1.59	L	0.96	T	-1.004	T	0.097	T	0.474	1.753	11.82	5.78	2.206	4.328	12.493	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.1429	1231.01	149	chr1	243330649	.	T	C	1231.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.731e+00;DP=2188;ExcessHet=1.7912;FS=129.457;InbreedingCoeff=-0.1662;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=1.60;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:154,47:201:18:.:.:18,0,2811	15	0	6	0
chr1	243330650	243330650	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G885A:p.M295I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.001	B	0.003	B	0.015	N	1.000	N	0.69	N	0.94	T	-1.038	T	0.059	T	0.245	-0.215	2.958	3.84	0.719	2.003	6.558	0.032	0.00632597119373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01950	T	0.234	0.24840	T	0.0	0.02946	B	0.002	0.06944	B	0.014502	0.28512	N	0.453510	0.998133	0.22332	N	1.655	0.42436	L	0.94	0.43672	T	-0.36	0.13805	N	0.134	0.13055	-1.0378	0.17985	T	0.059	0.24871	T	10	0.06551871	0.08850	T	0.006326	0.16610	T	0.032	0.07718	0.2	0.11384	0.277730125212	0.27379	0.06689497572896488	0.06627	0.0422791242989	0.04555	0.43775510788	0.30270	T	0.015516	0.13294	T	-0.198068	0.21084	T	-0.522287	0.20064	T	0.111812710762024	0.13609	T	0.748825	0.36981	T	0.06465344	0.13740	0.049524207	0.07586	0.06465344	0.13740	0.049524207	0.07585	-4.367	0.29106	T	0.08085815892315676	0.04119	0.334	0.55487	B	.;.	.;.	1.361264	0.17704	13.32	0.69353412739573272	0.08945	0.80020	0.39772	D	AEFBI	0.121707	0.23650	N	-0.389817834839874	0.25830	1.405158	-0.219855073360214	0.30825	1.738947	0.037651775745868	0.14308	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	3.84	0.43422	1.754000	0.37998	4.467000	0.43481	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.093:0.0:0.7284:0.1787	6.558	0.21666	590	0.68897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.09524	816.92	127	chr1	243330650	.	G	A	816.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.186e+00;DP=1692;ExcessHet=0.6776;FS=142.985;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.98;ReadPosRankSum=3.04;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:151,52:203:99:.:.:100,0,2673	17	0	4	0
chr1	247606052	247606052	C	T	exonic	OR2G3	.	nonsynonymous SNV	OR2G3:NM_001001914:exon1:c.C467T:p.S156F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.94	P	0.912	D	0.003	U	1.000	N	3.265	M	0.91	T	-0.750	T	0.272	T	0.547	1.179	9.796	2.88	0.942	-0.271	9.383	0.128	0.00487272123061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.94	0.52768	P	0.912	0.64797	D	0.003028	0.35542	U	0.000000	1	0.08975	N	2.98	0.85499	M	0.91	0.44856	T	-5.3	0.84387	D	0.169	0.17966	-0.7498	0.57946	T	0.272	0.64401	T	10	0.36200452	0.52807	T	0.004873	0.12224	T	0.128	0.35103	0.705	0.84145	0.590995569847	0.58776	0.28999490554351065	0.28912	0.356607788428	0.37403	0.289806485176	0.08894	T	0.006911	0.06335	T	-0.0855743	0.38805	T	-0.360698	0.37971	T	0.994767665863037	0.86260	D	0.538446	0.18153	T	0.84093624	0.86675	0.766928	0.86234	0.84093624	0.86676	0.766928	0.86235	-11.556	0.82621	D	.	.	0.376	0.58197	A	.	.	2.582214	0.33479	19.35	0.99542504421667777	0.70586	0.01531	0.05040	N	AEFI	0.050604	0.08861	N	-0.232654916858836	0.31801	1.786857	-0.506160876156086	0.21985	1.191972	1.56343494544074E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.8	2.88	0.32617	-0.134000	0.10415	.	.	0.498000	0.22619	0.000000	0.06391	0.000000	0.08366	0.913000	0.44837	0.0:0.8912:0.0:0.1088	9.383	0.37487	900	0.24599	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	0.02381	2709.98	34	chr1	247606052	.	C	T	2709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=1759;ExcessHet=0.0000;FS=5.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=0.049;SOR=1.015	GT:AD:DP:GQ:PL	0/1:141,107:248:99:2724,0,3584	20	0	1	0
chr2	10802598	10802598	T	C	exonic	PDIA6	.	nonsynonymous SNV	PDIA6:NM_005742:exon2:c.A62G:p.Y21C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.41	M	1.06	T	-0.086	T	0.368	T	0.951	4.684	25.9	6.03	2.302	7.287	16.566	0.645	0.0500904166695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.492e-06	8.209e-06	1.477e-06	1.508e-06	1.551e-05	2.5e-07	9e-08	.	.	0	0	0	0	0	0	9.476e-07	0	1.551e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	1.06	0.39781	T	-7.55	0.95305	D	0.918	0.98065	-0.0856	0.80427	T	0.368	0.72818	T	10	0.855863	0.84782	D	0.05009	0.64095	D	0.645	0.86536	0.543	0.65589	0.778743473999	0.77670	0.6449372733511507	0.64428	0.936948820389	0.72059	0.70856654644	0.68386	T	0.261593	0.63309	T	0.278216	0.81164	D	0.161862	0.80921	D	0.998817980289459	0.95250	D	0.981402	0.95021	D	0.91655755	0.92915	0.8504035	0.91531	0.91655755	0.92916	0.8504035	0.91532	-16.137	0.97959	D	.	.	0.905	0.84405	P	.;.;.;.;.;.	.;.;.;.;.;.	4.652118	0.74163	26.1	0.99849985314069678	0.92925	0.98367	0.82057	D	AEFBI	0.932045	0.92180	D	0.938702500726902	0.93523	12.096	0.879141792078518	0.94596	12.88739	0.999999999999614	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	7.430000	0.79505	7.839000	0.70444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.566	0.84437	770	0.49152	Thioredoxin 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	1224.98	42	chr2	10802598	.	T	C	1224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=910;ExcessHet=0.0000;FS=0.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=-1.000e+00;SOR=0.778	GT:AD:DP:GQ:PL	0/1:58,52:110:99:1239,0,1353	20	0	1	0
chr2	20651060	20651060	-	CATGACGGCGGCGGGGACTC	exonic	HS1BP3	.	frameshift insertion	HS1BP3:NM_022460:exon1:c.3_4insGAGTCCCCGCCGCCGTCATG:p.Q2Efs*28,	.	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440859218	3.046e-05	2.463e-05	3.676e-05	2.343e-05	0.0002	2.172e-05	1.911e-05	4.097e-05	2.107e-05	0	0	0	0	0	0	2.928e-05	6.855e-05	0.0002	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	463.94	29	chr2	20651060	.	G	GCATGACGGCGGCGGGGACTC	463.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.116;DP=520;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.42;ReadPosRankSum=0.211;SOR=1.123	GT:AD:DP:GQ:PL	0/1:7,12:19:99:478,0,258	20	0	1	0
chr2	20667365	20667365	-	GGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGC:p.G50_R51insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	1/1:0,2,0,0:2:6:90,6,0,90,6,90,90,6,90,90	3	5	0	10
chr2	20667365	20667365	-	GGCGGCGGCGGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGCGGCGGCGGC:p.G50_R51insGGGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	1/1:0,2,0,0:2:6:90,6,0,90,6,90,90,6,90,90	3	5	0	10
chr2	25743927	25743927	C	G	exonic	ASXL2	.	nonsynonymous SNV	ASXL2:NM_001369347:exon10:c.G1630C:p.E544Q	Shashi-Pena syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.996	D	0.867	P	0.038	N	1.000	N	1.95	M	2.2	T	-1.009	T	0.087	T	0.146	1.672	11.55	5.84	2.769	1.374	9.119	0.092	0.00709644128227	.	.	2.484e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs760941065	5.473e-06	5.472e-06	2.723e-06	8.252e-06	9.276e-05	2.35e-06	1.7e-06	4.579e-05	3.273e-05	0	0	0	0	0	0	0	0	9.276e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	0.378	0.28120	T	0.996	0.68779	D	0.867	0.61644	P	0.038245	0.24307	N	0.404030	1	0.08975	N	2.045	0.56016	M	2.2	0.18875	T	-0.4	0.13805	N	0.051	0.02272	-1.0090	0.27230	T	0.087	0.33830	T	10	0.07023817	0.10191	T	0.007096	0.18814	T	0.092	0.26621	0.185	0.09388	0.151262610727	0.14761	0.2658854872934252	0.26501	0.363869704645	0.38005	0.329218834639	0.14816	T	0.066304	0.32912	T	-0.381056	0.03069	T	-0.548469	0.17472	T	0.131017088890076	0.15476	T	0.851815	0.54540	D	0.13432796	0.31214	0.04645729	0.06480	0.13432796	0.31214	0.04645729	0.06480	-3.316	0.18219	T	0.11588830251526225	0.10419	0.086	0.16800	B	.;.;.	.;.;.	3.276713	0.44877	22.0	0.95812697034290328	0.27888	0.32322	0.24557	N	AEFGBCI	0.075225	0.15099	N	0.0451371775420274	0.43918	2.67555	0.0182462025221623	0.40562	2.422749	0.999996539438399	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	1.196000	0.31807	7.611000	0.61914	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.994000	0.71098	0.0:0.8463:0.0:0.1537	9.119	0.35937	704	0.57414	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	923.98	37	chr2	25743927	.	C	G	923.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.350e-01;DP=770;ExcessHet=0.0000;FS=4.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-1.656e+00;SOR=0.503	GT:AD:DP:GQ:PL	0/1:34,34:68:99:938,0,971	20	0	1	0
chr2	26310072	26310072	C	T	exonic	ADGRF3	.	nonsynonymous SNV	ADGRF3:NM_153835:exon10:c.G2515A:p.A839T	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.068	B	0.021	B	.	.	1.000	N	0.345	N	0.94	T	-1.034	T	0.035	T	0.033	0.578	7.122	-9.65	-1.612	-1.440	0.011	0.088	.	7.7e-05	0.00339457	0.0014	9.612e-05	0	0	0	0	0.0033	0.0101	0.0012484	193	154602	rs371242523	0.0006	0.0006	0.0003	0.0009	0.0102	0.0006	0.0006	0.0097	0.0095	0	0	0	0	0	0.0005	4.497e-06	0.0006	0.0102	0.0004	0.0004	0.0002	0.0006	0.0120	0.0003	0.0003	0.0095	0.0086	0	0	0	0	0	0	0.0034	0	0	0.0120	0.841	0.04081	T	1.0	0.01155	T	0.037	0.23728	B	0.021	0.19346	B	.	.	.	.	1	0.08975	N	.	.	.	0.94	0.43672	T	0.36	0.03700	N	0.181	0.19593	-1.0338	0.19236	T	0.035	0.15030	T	9	0.0046133995	0.00096	T	.	.	.	0.088	0.25558	.	.	0.0138822411134	0.00435	0.027274580353201145	0.02677	0.0795081424943	0.08942	0.233527630568	0.02239	T	0.001974	0.01384	T	-0.74447	0.00019	T	-0.832761	0.01214	T	0.0223484822840362	0.00948	T	0.451055	0.13467	T	0.018741146	0.00396	0.04370995	0.05498	0.018741146	0.00396	0.04370995	0.05497	-3.829	0.21238	T	.	.	0.062	0.01859	B	.;.;.	.;.;.	-1.013062	0.00753	0.023	0.619047088175113	0.06826	0.00090	0.00598	N	AEFDBI	0.021585	0.00978	N	-1.78058768847544	0.00594	0.02561184	-1.85622593753423	0.00595	0.02644838	0.999980165823878	0.51787	0.556989	0.30585	1	0.588015	0.36545	0	0.504386	0.09223	2	0.530356	0.10902	0	.	.	5.97	-9.65	0.00450	-1.000000	0.03804	-2.055000	0.04281	-1.682000	0.00784	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2905:0.2012:0.1973:0.311	0.011	0.00001	444	0.79803	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1190.98	39	chr2	26310072	.	C	T	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.163;DP=1060;ExcessHet=0.0000;FS=3.359;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=0.108;SOR=1.054	GT:AD:DP:GQ:PL	0/1:72,51:123:99:1205,0,1774	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	0/1:51,56:107:99:1594,0,1487	19	0	2	0
chr2	38959867	38959867	G	C	exonic	ARHGEF33	.	nonsynonymous SNV	ARHGEF33:NM_001145451:exon16:c.G1562C:p.S521T	.	.	419	1087	15	1	0	17	0.00775901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.001	B	.	.	0.999	N	0.345	N	0.79	T	-1.058	T	0.062	T	0.079	1.815	12.03	4.18	2.389	1.676	14.663	0.056	.	0.0092	0.00259585	0.0077	0.0037	0.0104	0	0.0029	0.0135	0.0043	0.0035	0.0023286	360	154602	rs201925961	0.0097	0.0093	0.0097	0.0096	0.0127	0.0095	0.0095	0.0104	0.0102	0.0024	0.0096	0.0248	0	0.0068	0.0127	0.0105	0.0101	0.0027	0.0077	0.0077	0.0083	0.0071	0.0110	0.0074	0.0072	0.0104	0.0101	0.0037	0	0.0068	0.0248	0	0.0042	0.0136	0.0110	0.0095	0.0033	0.281	0.15458	T	0.769	0.04492	T	.	.	.	.	.	.	.	.	.	.	0.99891	0.21810	N	0.695	0.17993	N	0.79	0.49068	T	-0.03	0.07444	N	0.065	0.06454	-1.0578	0.12311	T	0.062	0.25887	T	9	0.0036280155	0.00066	T	.	.	.	0.056	0.15993	.	.	0.124217242631	0.12060	0.3194243498274613	0.31855	.	.	0.438303112984	0.30345	T	.	.	.	-0.614037	0.00120	T	-0.643122	0.09443	T	0.00991943828818208	0.00132	T	0.534647	0.17878	T	.	.	.	.	.	.	.	.	-3.569	0.17410	T	.	.	0.078	0.06896	B	.;.	.;.	2.471970	0.31864	18.87	0.98122794707842576	0.38448	0.81894	0.41209	D	AEFDBCI	0.292932	0.40368	N	-0.252721942049127	0.30994	1.733645	-0.0638757124785495	0.36897	2.153146	0.999977932084475	0.50053	0.582742	0.33608	0	0.541168	0.11318	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	5.12	4.18	0.48473	1.738000	0.37831	6.223000	0.55146	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.24:0.76:0.0	14.663	0.68495	544	0.72685	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2307.98	36	chr2	38959867	.	G	C	2307.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.855e+00;DP=977;ExcessHet=0.0000;FS=1.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=-8.130e-01;SOR=0.807	GT:AD:DP:GQ:PL	0/1:128,111:239:99:2322,0,3243	20	0	1	0
chr2	47905552	47905554	GCT	-	exonic	FBXO11	.	nonframeshift deletion	FBXO11:NM_001190274:exon1:c.167_169del:p.Q56del,	.	.	419	1077	19	0	7	26	0.00874367	.	.	1356566	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0219	0	0	0	0	0.0109	0	0.0282	3.84e-05	1	26028	rs746953076	0.0013	0.0065	0.0012	0.0013	0.0028	0.0012	0.0012	0.0022	0.0020	0.0014	0.0022	0.0010	0.0015	0.0022	0.0007	0.0012	0.0012	0.0028	0.0002	0.0003	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0.0001	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	855.36	33	chr2	47905551	.	GGCT	G,GGCTGCT	855.36	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-7.820e-01;DP=621;ExcessHet=0.3300;FS=2.208;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-1.117e+00;SOR=0.379	GT:AD:DP:GQ:PL	0/2:8,0,19:27:99:696,720,1056,0,336,279	18	0	2	0
chr2	47905554	47905554	-	GCT	exonic	FBXO11	.	nonframeshift insertion	FBXO11:NM_001190274:exon1:c.166_167insAGC:p.Q56_P57insQ,	.	.	419	1077	19	0	7	26	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	855.36	33	chr2	47905551	.	GGCT	G,GGCTGCT	855.36	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-7.820e-01;DP=621;ExcessHet=0.3300;FS=2.208;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-1.117e+00;SOR=0.379	GT:AD:DP:GQ:PL	0/2:8,0,19:27:99:696,720,1056,0,336,279	18	0	2	0
chr2	54916834	54916834	G	A	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon25:c.G3574A:p.D1192N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.527	P	0.085	B	.	.	0.982	N	2.225	M	1.05	T	-0.958	T	0.126	T	0.119	2.543	14.46	4.8	1.534	2.714	17.144	0.167	0.00809895201272	.	.	.	.	.	.	.	.	.	.	.	.	.	rs972657970	2.86e-06	3.42e-06	1.411e-06	4.35e-06	3.71e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.71e-06	0	0	1.971e-05	1.97e-05	1.285e-05	2.691e-05	4.826e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	1.47e-05	0	0	0.124	0.27426	T	0.152	0.32249	T	0.527	0.37646	P	0.085	0.29395	B	.	.	.	.	0.981977	0.24999	N	2.42	0.70002	M	1.05	0.39990	T	-3.12	0.63782	D	0.498	0.53093	-0.9576	0.39626	T	0.126	0.43174	T	9	0.30109063	0.47653	T	0.008099	0.21470	T	0.167	0.42761	.	.	0.260735089382	0.25697	0.5884515333812768	0.58775	0.279803791515	0.30462	0.610818505287	0.54431	T	0.20582	0.56499	T	-0.194347	0.21623	T	-0.516942	0.20605	T	0.936214983463287	0.60504	D	0.865513	0.56452	D	0.18147194	0.39319	0.23908198	0.49247	0.18147194	0.39318	0.23908198	0.49246	-10.177	0.74964	D	.	.	0.106	0.19720	B	.	.	3.670722	0.52193	23.2	0.9980107959391703	0.88550	0.95983	0.67006	D	AEFBI	0.341852	0.43820	N	0.00988720103454968	0.42303	2.546404	0.0333368361447947	0.41274	2.476889	0.536714700807623	0.21219	0.549168	0.22868	0	0.55458	0.17659	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.68	4.8	0.61157	6.629000	0.74129	9.872000	0.82135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.450000	0.27895	0.0:0.1263:0.8737:0.0	17.144	0.86640	467	0.78285	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1216.98	33	chr2	54916834	.	G	A	1216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=801;ExcessHet=0.0000;FS=0.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-8.200e-02;SOR=0.794	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1231,0,1182	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	0/1:18,18,0,0,0,0:36:99:584,0,658,639,712,1350,639,712,1350,1350,639,712,1350,1350,1350,639,712,1350,1350,1350,1350	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	0/1:18,18,0,0,0,0:36:99:584,0,658,639,712,1350,639,712,1350,1350,639,712,1350,1350,1350,639,712,1350,1350,1350,1350	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	0/1:18,18,0,0,0,0:36:99:584,0,658,639,712,1350,639,712,1350,1350,639,712,1350,1350,1350,639,712,1350,1350,1350,1350	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	0/1:18,18,0,0,0,0:36:99:584,0,658,639,712,1350,639,712,1350,1350,639,712,1350,1350,1350,639,712,1350,1350,1350,1350	0	4	5	0
chr2	73701063	73701063	G	A	exonic	NAT8B	.	unknown	UNKNOWN,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	9.073e-05	0	8.637e-05	0	0	0	0	0.0006	7.76e-05	12	154602	rs573495203	6.293e-05	6.293e-05	4.492e-05	8.113e-05	0.0007	5.228e-05	4.845e-05	0.0004	0.0004	0	2.236e-05	0	0	0	0.0007	3.417e-05	4.967e-05	0.0005	5.91e-05	6.562e-05	6.424e-05	5.372e-05	0.0012	3.076e-05	2.209e-05	0.0005	0.0004	0	0	0	0	0	0	0	4.411e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3984.98	148	chr2	73701063	.	G	A	3984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=3261;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=-3.100e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/1:120,148:268:99:3999,0,3070	20	0	1	0
chr2	74416088	74416088	C	T	exonic	C2orf81	.	nonsynonymous SNV	C2orf81:NM_001145054:exon2:c.G181A:p.D61N	.	.	417	1033	69	3	0	75	0.0350304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.964	D	0.015	N	1.000	D	2.045	M	.	.	-0.178	T	0.291	T	0.124	3.752	19.05	4.99	2.762	2.302	17.569	0.170	.	0.0096	0.00579073	0.0162	0.0019	0.0149	0.0017	0.0055	0.0139	0.0146	0.0245	0.0034346	531	154602	rs61999261	0.0098	0.0094	0.0093	0.0103	0.0233	0.0097	0.0096	0.0224	0.0220	0.0013	0.0036	0.0223	5.664e-05	0.0016	0.0164	0.0097	0.0093	0.0233	0.0068	0.0068	0.0069	0.0067	0.0217	0.0065	0.0063	0.0184	0.0171	0.0017	0.0471	0.0037	0.0239	0	0.0015	0.0272	0.0095	0.0071	0.0217	0.007	0.59928	D	0.009	0.66756	D	0.999	0.77913	D	0.964	0.71005	D	0.015231	0.28305	N	0.169000	0.730451	0.81001	D	.	.	.	.	.	.	-3.34	0.66325	D	0.115	0.18239	-0.1785	0.78218	T	0.291	0.66259	T	9	0.0066019595	0.00149	T	.	.	.	0.170	0.43303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.48828	0.00664	T	-0.456571	0.26973	T	0.0132588402567505	0.00237	T	0.819918	0.47908	T	0.1454031	0.33332	0.16703159	0.38556	0.1454031	0.33332	0.16703159	0.38555	-8.235	0.62660	D	.	.	0.272	0.56638	B	.;.;.;.	.;.;.;.	4.460103	0.69407	25.4	0.99842137099818384	0.92229	0.66605	0.33136	D	AEFDBCI	0.322372	0.42488	N	0.617773032868231	0.74299	6.109054	0.587038929016393	0.74008	6.064898	0.999999996186617	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.603688	0.36954	0	0.63947	0.58350	0	.	.	4.99	4.99	0.65942	2.130000	0.41687	4.820000	0.45111	0.549000	0.26987	0.959000	0.33545	1.000000	0.68203	0.860000	0.40782	0.0:1.0:0.0:0.0	17.569	0.87828	532	0.73501	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1935.98	37	chr2	74416088	.	C	T	1935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=-1.311e+00;SOR=0.743	GT:AD:DP:GQ:PL	0/1:53,74:127:99:1950,0,1174	20	0	1	0
chr2	85552980	85552980	G	A	exonic	GGCX	.	nonsynonymous SNV	GGCX:NM_001142269:exon8:c.C1075T:p.R359C	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency;Vitamin K-dependent clotting factors, combined deficiency of, 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.996	D	0.806	P	0.000	D	1.000	D	1.7	L	-3.02	D	0.650	D	0.779	D	0.518	4.116	21.2	5.54	2.601	3.412	11.991	0.654	0.139117761361	.	.	2.471e-05	0	0	0.0001	0	1.498e-05	0	6.056e-05	2.59e-05	4	154602	rs751742099	4.105e-06	5.472e-06	4.084e-06	4.126e-06	2.519e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	2.519e-05	0	0	3.598e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.022	0.57587	D	0.994	0.66517	D	0.67	0.53116	P	0.000048	0.53742	D	0.157296	0.999999	0.58761	D	1.79	0.46772	L	-3.02	0.92258	D	-2.1	0.47852	N	0.65	0.66101	0.650	0.92545	D	0.779	0.92505	D	10	0.6919238	0.71908	D	0.139118	0.82160	D	0.654	0.86986	0.594	0.72371	0.937555254981	0.93690	0.7282778525437841	0.72771	0.996463915584	0.74250	0.638124108315	0.58296	T	0.59871	0.87107	D	0.0218247	0.54627	T	-0.0372985	0.67884	D	0.717164218425751	0.41556	D	0.966203	0.87589	D	0.12863405	0.30066	0.093322866	0.22036	0.12863405	0.30066	0.093322866	0.22035	-9.295	0.69576	D	0.6709187007620729	0.74585	0.267	0.50101	B	.;.	.;.	5.044625	0.83989	28.2	0.99923407672963049	0.98917	0.91960	0.54637	D	AEFBI	0.695995	0.65448	D	0.577458763713903	0.71770	5.701593	0.604040849108782	0.75234	6.27445	0.999999985965612	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	3.520000	0.53221	7.551000	0.60274	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.827:0.173	11.991	0.52465	584	0.69381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2171.98	40	chr2	85552980	.	G	A	2171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=927;ExcessHet=0.0000;FS=2.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-9.200e-01;SOR=0.565	GT:AD:DP:GQ:PL	0/1:105,87:192:99:2186,0,4063	20	0	1	0
chr2	87985747	87985747	G	A	exonic	RGPD1	.	nonsynonymous SNV	RGPD1:NM_001024457:exon1:c.C28T:p.R10C,	.	.	577	943	2	0	0	2	0.00105932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	.	.	0.68	T	-0.929	T	0.143	T	0.301	-0.455	1.891	.	0.088	0.880	2.851	0.048	0.000787956150125	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs776102347	0.0001	0.0001	9.874e-05	0.0001	0.0013	9.261e-05	8.723e-05	0.0010	0.0009	0.0005	0.0003	3.837e-05	0.0013	0	0.0005	3.982e-05	0.0002	0.0002	0.0003	0.0003	0.0002	0.0004	0.0007	0.0002	0.0002	0.0005	0.0004	0.0007	0	0.0006	0	0.0006	0	0.0034	5.884e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1551.98	33	chr2	87985747	.	G	A	1551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.460e-01;DP=853;ExcessHet=0.0000;FS=4.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.94;MQRankSum=-3.747e+00;QD=9.95;ReadPosRankSum=-1.212e+00;SOR=0.404	GT:AD:DP:GQ:PL	0/1:87,69:156:99:1566,0,2015	20	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I	.	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.207	B	0.092	B	0.005	N	0.996	D	-0.23	N	4.47	T	-0.881	T	0.003	T	0.423	-1.806	0.009	1.05	1.049	-0.033	7.455	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	8192.58	228	chr2	94876587	.	C	A	8192.58	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.040e-01;DP=4322;ExcessHet=17.4423;FS=7.871;InbreedingCoeff=-0.5628;MLEAC=15;MLEAF=0.357;MQ=58.06;MQRankSum=-1.627e+01;QD=2.09;ReadPosRankSum=-3.458e+00;SOR=1.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,19:269:45:0|1:94876587_C_A:45,0,10312:94876587	6	0	15	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X	.	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	.	.	.	.	0.451	N	1.000	D	.	.	.	.	.	.	.	.	.	2.179	13.24	-4.85	-0.463	-0.054	8.126	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	365.45	249	chr2	94876599	.	C	T	365.45	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.780e-01;DP=4617;ExcessHet=0.1072;FS=3.828;InbreedingCoeff=-0.0598;MLEAC=2;MLEAF=0.048;MQ=58.11;MQRankSum=-1.569e+01;QD=0.64;ReadPosRankSum=-1.991e+00;SOR=1.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:259,21:280:99:0|1:94876587_C_A:102,0,10782:94876587	19	0	2	0
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	0/1:300,35:335:99:.:.:417,0,7730	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|1:342,33:375:99:0|1:94876670_C_T:356,0,14163:94876670	2	0	19	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T	.	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.003	B	0.013	B	0.040	N	0.984	N	3.03	M	4.15	T	-0.940	T	0.013	T	0.4	0.667	7.574	-2.21	-0.321	0.130	6.926	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4524	58619.68	400	chr2	94876674	.	G	A	58619.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-6.968e+00;DP=8442;ExcessHet=36.0830;FS=0.632;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.55;MQRankSum=-2.055e+01;QD=7.10;ReadPosRankSum=4.91;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:327,45:372:99:.:.:770,0,13484	2	0	19	0
chr2	95275993	95275993	G	A	exonic	PROM2	.	nonsynonymous SNV	PROM2:NM_001165977:exon3:c.G358A:p.V120M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.034	B	0.059	B	0.251	N	1.000	N	0.69	N	1.27	T	-0.977	T	0.047	T	0.205	-1.972	0.007	1.92	-0.136	0.387	7.491	0.082	0.00827766716301	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294949925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.529	0.07048	T	0.476	0.12037	T	0.034	0.20480	B	0.059	0.26602	B	0.251461	0.15501	N	0.585786	0.999983	0.18198	N	1.725	0.44537	L	1.27	0.36146	T	0.52	0.02853	N	0.372	0.41459	-0.9770	0.35683	T	0.047	0.19958	T	10	0.20596513	0.36842	T	0.008278	0.21928	T	0.082	0.23913	0.713	0.84872	0.0297737177859	0.01360	0.4112654167763644	0.41042	0.34295715848	0.36226	0.385582566261	0.23045	T	0.006327	0.05765	T	-0.227224	0.17018	T	-0.564168	0.15988	T	0.0674886527935567	0.08295	T	0.691931	0.30130	T	0.023884032	0.01167	0.046522837	0.06502	0.023884032	0.01167	0.046522837	0.06502	-2.317	0.04650	T	.	.	0.124	0.26731	B	.;.;.	.;.;.	1.124282	0.15103	11.59	0.81187557590405368	0.13562	0.09527	0.15263	N	AEFDBCI	0.081175	0.16422	N	-1.49591583100846	0.01879	0.08241647	-1.45596716489262	0.02717	0.1254672	0.999960658250678	0.48965	0.553676	0.25195	0	0.573888	0.26702	0	0.608075	0.38828	0	0.620846	0.47308	0	.	.	4.77	1.92	0.24912	0.794000	0.26619	3.327000	0.37595	-0.119000	0.14319	0.687000	0.28504	1.000000	0.68203	0.011000	0.09372	0.1731:0.1385:0.6884:0.0	7.491	0.26629	.	.	.;.;.	.	.	.	.	.	Uncertain significance	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	1453.98	40	chr2	95275993	.	G	A	1453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.14;DP=842;ExcessHet=0.0000;FS=1.445;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.125;SOR=0.876	GT:AD:DP:GQ:PL	0/1:73,55:128:99:1468,0,1831	20	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S,	.	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	1.32	L	2.56	T	-0.945	T	0.020	T	0.057	1.140	9.645	-5.28	-1.321	0.150	0.771	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	31056.74	205	chr2	95855390	.	T	C	31056.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.80;DP=5080;ExcessHet=54.0936;FS=20.631;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.44;MQRankSum=-1.119e+01;QD=6.32;ReadPosRankSum=-6.536e+00;SOR=2.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,53:194:99:.:.:1057,0,3762	0	0	21	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	0/1:160,127:287:99:2806,0,4224	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	0/1:172,87:259:99:.:.:2225,0,4627	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	0/1:208,23:231:76:76,0,8178	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	0/1:164,62:226:99:.:.:1455,0,4648	0	0	21	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A,	.	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.33	T	-0.992	T	0.020	T	0.208	-0.096	3.531	1.85	1.110	0.669	7.648	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.3333	5668.45	83	chr2	95859895	.	T	C	5668.45	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.500e-02;DP=1947;ExcessHet=14.4320;FS=1.573;InbreedingCoeff=-0.4994;MLEAC=14;MLEAF=0.333;MQ=58.17;MQRankSum=-2.110e+00;QD=4.01;ReadPosRankSum=0.759;SOR=0.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,30:76:99:.:.:1107,0,1814	7	0	14	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4,	.	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28198.39	155	chr2	95859969	.	A	AT	28198.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.047e+00;DP=3277;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.329e+00;QD=8.84;ReadPosRankSum=0.032;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,38:117:99:0|1:95859969_A_AT:1317,0,3139:95859969	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|1:80,38:118:99:0|1:95859969_A_AT:1314,0,3168:95859969	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|1:78,36:114:99:0|1:95859969_A_AT:1277,0,3106:95859969	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	0/1:83,34:117:99:1127,0,2079	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|1:82,29:111:99:0|1:95860002_T_A:970,0,3313:95860002	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|1:83,30:113:99:0|1:95860002_T_A:1009,0,3332:95860002	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|1:80,25:105:99:0|1:95860020_G_A:809,0,3229:95860020	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|1:79,22:101:99:0|1:95860020_G_A:686,0,3216:95860020	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	0/1:63,14:77:99:399,0,1744	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|1:105,28:133:99:0|1:95927222_G_GAT:860,0,4313:95927222	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|1:116,40:156:99:0|1:95927222_G_GAT:1330,0,4739:95927222	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|1:120,51:171:99:0|1:95927222_G_GAT:1780,0,4885:95927222	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|1:138,89:227:99:0|1:95927222_G_GAT:3322,0,5527:95927222	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|1:160,111:271:99:0|1:95927222_G_GAT:4119,0,6340:95927222	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|1:164,113:277:99:0|1:95927222_G_GAT:4150,0,6335:95927222	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|1:132,52:184:99:0|1:95929092_T_C:1728,0,5344:95929092	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|1:156,59:215:99:0|1:95929092_T_C:2008,0,6353:95929092	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|1:178,77:255:99:0|1:95929092_T_C:2697,0,7242:95929092	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|1:178,82:260:99:0|1:95929092_T_C:2907,0,7227:95929092	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|1:183,85:268:99:0|1:95929092_T_C:3018,0,7372:95929092	1	0	20	0
chr2	96354198	96354198	G	A	exonic	NCAPH	.	nonsynonymous SNV	NCAPH:NM_001281712:exon8:c.G610A:p.V204I	.	.	432	1082	8	0	0	8	0.00368324	.	.	3211553	NCAPH-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.019	B	0.023	B	0.005	N	0.903	N	1.825	L	0.94	T	-1.049	T	0.079	T	0.115	1.883	12.26	2.08	0.655	0.057	3.464	0.027	0.0055618827627	.	0.00119808	0.0009	0	0.0002	0	0.0002	7.502e-05	0.0022	0.0063	0.0007891	122	154602	rs536560583	0.0004	0.0004	0.0003	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	0	4.473e-05	0	2.52e-05	5.616e-05	0.0019	6.025e-05	0.0005	0.0058	0.0003	0.0003	0.0001	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	0	0	0	0	0	0	0	7.35e-05	0.0005	0.0068	0.23	0.18308	T	0.351	0.36365	T	0.009	0.17989	B	0.017	0.19966	B	0.004686	0.33486	N	0.311859	0.903236	0.27659	N	1.555	0.39373	L	0.94	0.43672	T	0.04	0.06488	N	0.057	0.02964	-1.0486	0.14790	T	0.079	0.31466	T	10	0.009620041	0.00217	T	0.005562	0.14349	T	0.027	0.05988	0.493	0.58048	0.360163838653	0.35632	0.0839256415918071	0.08326	0.162679693252	0.18360	0.395833849907	0.24489	T	0.024314	0.18398	T	-0.586084	0.00177	T	-0.61245	0.11786	T	0.0147583170771568	0.00309	T	0.730127	0.34567	T	0.025312321	0.01455	0.043337874	0.05370	0.028445465	0.02183	0.040646534	0.04439	-3.93	0.22753	T	0.14988255244189536	0.17562	0.087	0.17953	B	.;.;.;.	.;.;.;.	1.788000	0.22733	15.74	0.97489165973505298	0.34230	0.64636	0.32472	D	AEFDBHCI	0.092251	0.18679	N	-0.324180257178981	0.28233	1.555503	-0.213028626270591	0.31066	1.754797	0.999956754152261	0.48110	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.08	2.08	0.26079	-0.085000	0.11215	1.572000	0.27423	0.676000	0.76740	0.929000	0.32243	1.000000	0.68203	0.979000	0.57723	0.2839:0.0:0.5368:0.1792	3.464	0.07111	287	0.88635	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1027.98	33	chr2	96354198	.	G	A	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.404;DP=807;ExcessHet=0.0000;FS=2.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=4.000e-03;SOR=0.529	GT:AD:DP:GQ:PL	0/1:46,43:89:99:1042,0,1147	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|1:105,18:123:99:0|1:97185336_GC_G:440,0,4351:97185336	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|1:104,18:122:99:0|1:97185336_GC_G:443,0,4313:97185336	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|1:104,18:122:99:0|1:97185336_GC_G:443,0,4313:97185336	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|1:108,18:126:99:0|1:97185336_GC_G:431,0,4481:97185336	3	0	18	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V,	.	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	66907.47	297	chr2	97513220	.	G	A	66907.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-8.080e-01;DP=4067;ExcessHet=51.1880;FS=3.353;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=36.93;MQRankSum=-3.978e+00;QD=16.47;ReadPosRankSum=0.728;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,75:165:99:0|1:97513219_T_C:2847,0,3553:97513219	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|1:92,79:171:99:0|1:97513219_T_C:2989,0,3625:97513219	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|1:107,92:199:99:0|1:97513244_G_T:3541,0,4182:97513244	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|1:108,102:210:99:0|1:97513244_G_T:3943,0,4208:97513244	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|1:107,102:209:99:0|1:97513244_G_T:3946,0,4179:97513244	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|1:110,109:219:99:0|1:97513268_C_T:4246,0,4278:97513268	0	0	20	1
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X,	.	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	89883.47	410	chr2	97513270	.	A	C	89883.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.910e-01;DP=5493;ExcessHet=51.1880;FS=3.209;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.11;MQRankSum=-4.823e+00;QD=16.38;ReadPosRankSum=-7.770e-01;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:128,92:220:99:.:.:1844,0,4739	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|1:111,110:221:99:0|1:97513268_C_T:4265,0,4296:97513268	0	0	20	1
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K,	.	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	105794.47	411	chr2	97513281	.	C	T	105794.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.198e+00;DP=5582;ExcessHet=51.1880;FS=2.445;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.48;MQRankSum=-5.580e+00;QD=19.09;ReadPosRankSum=-8.110e-01;SOR=0.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,112:222:99:0|1:97513268_C_T:4308,0,4219:97513268	0	0	20	1
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M,	.	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	27196.47	224	chr2	97513354	.	T	C	27196.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=1.66;DP=3353;ExcessHet=51.1880;FS=1.191;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=39.44;MQRankSum=-3.474e+00;QD=8.44;ReadPosRankSum=0.663;SOR=0.624	GT:AD:DP:GQ:PL	0/1:101,42:143:99:757,0,2422	0	0	20	1
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	55301.27	201	chr2	108259015	.	G	T,*	55301.27	.	AC=18,12;AF=0.429,0.286;AN=42;BaseQRankSum=2.01;DP=3832;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=18,12;MLEAF=0.429,0.286;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=-1.780e-01;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,92,0:202:99:.:.:2287,0,2649,2617,2925,5543	3	5	3	0
chr2	127702037	127702037	T	C	exonic	SFT2D3	.	nonsynonymous SNV	SFT2D3:NM_032740:exon1:c.T509C:p.V170A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.002	B	0.041	N	1.000	N	-0.165	N	0.82	T	-1.034	T	0.049	T	0.098	2.053	12.82	-1.37	-0.409	0.764	8.293	0.047	0.177002340601	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489189643	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.647	0.04897	T	0.745	0.04895	T	0.0	0.02946	B	0.002	0.06944	B	0.040624	0.24037	N	0.352028	1	0.81001	D	-0.265	0.03777	N	0.82	0.48142	T	-0.8	0.22078	N	0.05	0.02179	-1.0344	0.19046	T	0.049	0.20789	T	10	0.08438343	0.14138	T	0.177002	0.85259	D	0.047	0.12962	0.685	0.82271	0.429552544315	0.42571	0.31859135372381026	0.31772	.	.	0.92147809267	0.98435	D	0.004095	0.03502	T	-0.264416	0.12387	T	-0.617592	0.11374	T	0.0352564996565316	0.02851	T	0.515049	0.16594	T	0.044627484	0.07166	0.05751836	0.10469	0.044627484	0.07166	0.05751836	0.10469	-2.386	0.05047	T	.	.	0.069	0.02960	B	.	.	2.053704	0.26112	17.00	0.820684231363912	0.14002	0.04116	0.09590	N	ALL	0.024546	0.01538	N	-1.13455292677325	0.06038	0.2768925	-1.06211893019878	0.08456	0.415861	0.999999999999731	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.47	-1.37	0.08582	0.380000	0.20331	-0.012000	0.13046	0.439000	0.21057	0.996000	0.39380	0.008000	0.19753	0.856000	0.40543	0.0:0.4306:0.0:0.5694	8.293	0.31132	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	307.01	5	chr2	127702037	.	T	C	307.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.598e+00;DP=291;ExcessHet=0.0000;FS=2.933;InbreedingCoeff=-0.0266;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.19;ReadPosRankSum=-8.080e-01;SOR=0.132	GT:AD:DP:GQ:PL	0/1:3,13:16:75:321,0,75	20	0	1	0
chr2	130077197	130077197	C	T	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon16:c.G1783A:p.E595K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.976	D	0.651	P	.	.	1.000	N	0.805	L	-1.91	D	-0.569	T	0.425	T	0.1	0.740	7.927	0.052	0.005	-0.033	3.511	0.254	.	.	.	0.0048	0.0357	0	0	.	0	0	0	0.0005379	14	26028	rs755767576	0.0022	0.0022	0.0022	0.0023	0.0209	0.0021	0.0021	0.0165	0.0149	0.0135	0.0033	0.0093	0.0008	0.0009	0.0209	0.0018	0.0041	0.0018	0.0067	0.0077	0.0069	0.0065	0.0159	0.0064	0.0062	0.0149	0.0145	0.0159	0	0.0054	0.0103	0	0.0009	0.0276	0.0032	0.0049	0.0035	0.055	0.38407	T	0.0	0.92824	D	0.976	0.58310	D	0.651	0.52497	P	.	.	.	.	1	0.08975	N	2.375	0.68372	M	-1.91	0.84701	D	-0.17	0.09627	N	0.107	0.09207	-0.5686	0.66071	T	0.425	0.76916	T	9	0.0050650835	0.00109	T	.	.	.	0.254	0.56428	0.116	0.02439	0.159798565429	0.15598	0.028376717554403092	0.02787	.	.	0.750440120697	0.74511	T	0.015427	0.12940	T	-0.139085	0.30036	T	-0.437562	0.29082	T	0.0155505372168361	0.00353	T	0.60264	0.22576	T	0.048330206	0.08406	0.06266108	0.12295	0.048330206	0.08406	0.06266108	0.12294	-3.449	0.15725	T	.	.	0.082	0.08851	B	.	.	1.079197	0.14619	11.18	0.89374406225319802	0.18742	0.00405	0.02019	N	AEFI	0.027484	0.02252	N	-0.921945780352676	0.10329	0.4931033	-1.15824607067916	0.06621	0.3193104	1.09586772272045E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.987	0.052	0.13614	-0.103000	0.10909	.	.	-1.070000	0.01595	0.000000	0.06391	0.755000	0.26580	0.024000	0.12247	0.0:0.7144:0.0:0.2856	3.511	0.07267	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	0.04762	60.19	15	chr2	130077197	.	C	T	60.19	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.29;DP=232;ExcessHet=0.1072;FS=3.859;InbreedingCoeff=-0.0531;MLEAC=2;MLEAF=0.048;MQ=25.62;MQRankSum=-2.590e-01;QD=2.74;ReadPosRankSum=0.086;SOR=0.083	GT:AD:DP:GQ:PL	0/1:8,2:10:28:28,0,221	19	0	2	0
chr2	130115242	130115242	T	C	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon4:c.A608G:p.D203G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.945	D	0.000	D	0.993	D	2.57	M	0.23	T	0.202	D	0.662	D	0.381	1.968	12.54	1.13	0.780	3.826	4.529	0.258	0.00923769273698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.59928	D	0.0	0.92824	D	0.991	0.64070	D	0.945	0.68163	D	0.000117	0.50451	D	0.000000	0.992803	0.41748	D	2.135	0.59519	M	0.23	0.85393	T	-1.51	0.86988	N	0.667	0.74371	0.202	0.85940	D	0.662	0.88246	D	10	0.6725204	0.70797	D	0.009238	0.24272	T	0.258	0.56959	0.601	0.73226	0.269558022972	0.26553	0.25822168627804276	0.25736	.	.	0.88701915741	0.94884	D	0.007383	0.06790	T	0.054995	0.58982	T	-0.15878	0.58461	T	0.707982897758484	0.41102	D	0.815918	0.78488	T	0.12013627	0.28275	0.096309125	0.22879	0.12013627	0.28275	0.096309125	0.22879	-11.6	0.82848	D	.	.	0.799	0.77227	P	.;.	.;.	2.818665	0.37125	20.4	0.99166154888982294	0.54241	0.70574	0.34647	D	AEFDI	0.161082	0.28709	N	0.020257481258202	0.42777	2.583858	-0.24790922719135	0.29844	1.675333	7.2088409215156E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.525792	0.08840	0	.	.	1.13	1.13	0.19758	4.844000	0.62544	.	.	0.309000	0.19094	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0:0.0:0.0:1.0	4.529	0.11400	982	0.03397	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2986.98	121	chr2	130115242	.	T	C	2986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.060;DP=1949;ExcessHet=0.0000;FS=3.285;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.09;MQRankSum=1.16;QD=10.74;ReadPosRankSum=-4.480e-01;SOR=0.907	GT:AD:DP:GQ:PL	0/1:150,128:278:99:3001,0,3602	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	1/1:0,223,0:223:99:.:.:6885,670,0,7228,688,8400	4	10	6	0
chr2	130120485	130120485	C	G	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon3:c.G31C:p.A11P,	.	.	429	1054	39	0	0	39	0.0181649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.909	P	0.665	P	.	.	1.000	N	0.895	L	1.07	T	-0.634	T	0.381	T	0.369	1.105	9.510	.	0.149	0.485	.	0.156	.	0.0019	0.00798722	0.0046	0.0196	0.0025	0	0.0023	0.0041	0.0102	0.0028	0.0029584	77	26028	rs201109823	0.0032	0.0032	0.0031	0.0033	0.0315	0.0031	0.0031	0.0277	0.0262	0.0182	0.0033	0.0122	0	0.0014	0.0315	0.0025	0.0054	0.0030	0.0080	0.0080	0.0082	0.0077	0.0182	0.0076	0.0074	0.0171	0.0167	0.0182	0	0.0069	0.0136	0	0.0009	0.0340	0.0037	0.0071	0.0043	0.0	0.91255	D	0.002	0.79402	D	0.909	0.50183	P	0.665	0.52961	P	.	.	.	.	1	0.08975	N	1.7	0.43825	L	-1.51	0.81399	D	-0.65	0.32791	N	0.219	0.31027	-0.6341	0.63397	T	0.381	0.73766	T	7	0.005183339	0.00113	T	.	.	.	0.156	0.40720	.	.	0.101711395817	0.09552	0.022986211366154648	0.02250	.	.	0.474681586027	0.35325	T	0.017655	0.14364	T	-0.322528	0.06693	T	-0.221786	0.52566	T	0.0378075159640915	0.03297	T	0.750425	0.37862	T	0.23493005	0.46320	0.39268032	0.64006	0.23493005	0.46320	0.39268032	0.64006	-3.384	0.14842	T	.	.	0.161	0.35477	B	.;.	.;.	1.710486	0.21783	15.35	0.99195711931916741	0.55112	0.00378	0.01916	N	AEFI	0.057807	0.10798	N	-0.668355262314807	0.16926	0.8667242	-0.938220174050629	0.11197	0.5689714	1.10476958756432E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	0.899000	0.28049	.	.	0.268000	0.18485	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	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	0.04762	3866.11	43	chr2	130120485	.	C	G	3866.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.510e+00;DP=1118;ExcessHet=0.1072;FS=0.864;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=41.66;MQRankSum=-3.015e+00;QD=11.11;ReadPosRankSum=1.17;SOR=0.768	GT:AD:DP:GQ:PL	0/1:92,72:164:99:1778,0,2444	19	0	2	0
chr2	130621539	130621539	G	A	exonic	POTEJ	.	nonsynonymous SNV	POTEJ:NM_001277083:exon5:c.G880A:p.V294I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	0.065	N	-0.18	T	-0.986	T	0.105	T	0.143	0.782	8.126	-0.238	-0.120	-0.750	3.110	0.030	.	.	.	0.0044	0.0292	0.0017	0	0	0	0	0	3.84e-05	1	26028	rs755722598	0.0004	0.0006	0.0005	0.0004	0.0172	0.0004	0.0004	0.0161	0.0156	0.0172	0.0004	0	0	0	0	8.1e-06	0.0008	0	0.0039	0.0052	0.0040	0.0038	0.0137	0.0036	0.0035	0.0128	0.0124	0.0137	0	0.0008	0	0	0	0	4.413e-05	0.0048	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.59	0.15444	N	-0.18	0.65747	T	-0.18	0.09796	N	0.06	0.03175	-0.9860	0.33590	T	0.105	0.38366	T	7	0.0048311353	0.00103	T	.	.	.	0.030	0.07022	.	.	0.0884992946249	0.08302	0.047701045604350525	0.04713	.	.	.	.	.	0.015329	0.12882	T	-0.176956	0.24190	T	-0.491961	0.23186	T	0.0200937504063997	0.00710	T	0.59464	0.22023	T	0.087365285	0.20342	0.07073533	0.15064	0.087365285	0.20342	0.07073533	0.15064	-4.491	0.30770	T	.	.	0.111	0.21390	B	.	.	0.116716	0.05149	1.672	0.97199876232161309	0.32806	0.00276	0.01495	N	AEFI	0.023565	0.01332	N	-0.916889831478489	0.10448	0.49926	-1.10120874826737	0.07677	0.3743888	1.11738232398089E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.755	-0.238	0.12411	-0.433000	0.07017	.	.	0.314000	0.19222	0.004000	0.16614	0.000000	0.08366	0.004000	0.06068	0.3493:0.0:0.6507:0.0	3.110	0.05973	970	0.06235	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	172.98	38	chr2	130621539	.	G	A	172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.236e+00;DP=836;ExcessHet=0.0000;FS=1.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=28.79;MQRankSum=-1.199e+00;QD=2.08;ReadPosRankSum=0.148;SOR=0.867	GT:AD:DP:GQ:PL	0/1:68,15:83:99:187,0,1768	20	0	1	0
chr2	131046047	131046047	G	A	exonic	ARHGEF4	.	nonsynonymous SNV	ARHGEF4:NM_001375903:exon10:c.G1721A:p.R574Q	.	.	436	1076	10	0	0	10	0.00462535	.	.	3191776	ARHGEF4-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.37	T	0.999	D	0.848	P	0.000	D	1.000	D	0.895	L	1.32	T	-0.967	T	0.155	T	0.618	3.035	16.13	4.83	1.420	4.155	12.493	0.161	.	.	0.00479233	0.0018	0	8.655e-05	0	0	7.665e-05	0.0011	0.0128	0.0015524	240	154602	rs528934869	0.0008	0.0008	0.0005	0.0011	0.0116	0.0008	0.0007	0.0110	0.0107	5.978e-05	0	0	5.045e-05	0	0.0017	7.474e-05	0.0010	0.0116	0.0006	0.0006	0.0004	0.0008	0.0149	0.0005	0.0004	0.0122	0.0111	4.812e-05	0	6.533e-05	0	0	0	0	0.0001	0.0005	0.0149	0.154	0.44358	T	0.338	0.37589	T	0.999	0.77913	D	0.848	0.60574	P	0.000001	0.62929	D	0.053681	0.999714	0.81001	D	1.75	0.45442	L	1.32	0.47815	T	-0.99	0.26200	N	0.089	0.38335	-0.9670	0.37814	T	0.155	0.48585	T	10	0.006344646	0.00143	T	.	.	.	0.161	0.41658	.	.	0.855232234654	0.85383	0.39499465036624204	0.39414	0.23784296459	0.26331	0.306786000729	0.11421	T	0.01817	0.33316	T	-0.3605	0.04102	T	-0.280222	0.46781	T	0.0713917149893983	0.08845	T	0.864713	0.56210	D	0.116076715	0.27383	0.065911695	0.13428	0.116076715	0.27383	0.065911695	0.13427	-3.861	0.22632	T	.	.	0.090	0.23640	B	.;.;.;.;.;.	.;.;.;.;.;.	4.182598	0.62975	24.5	0.99658986777332981	0.77820	0.89590	0.50152	D	AEFDBCI	0.460313	0.51055	N	0.315934979267973	0.56967	3.862374	0.360278318778664	0.59129	4.08827	0.999999071813254	0.74766	0.634777	0.41761	0	0.572659	0.20510	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	5.71	4.83	0.61880	3.611000	0.53881	.	.	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.340000	0.25432	0.0812:0.0:0.9188:0.0	12.493	0.55251	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	0.04762	667.11	34	chr2	131046047	.	G	A	667.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.54;DP=711;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=0.831;SOR=0.559	GT:AD:DP:GQ:PL	0/1:23,14:37:99:408,0,599	19	0	2	0
chr2	131252927	131252927	T	G	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon16:c.T1606G:p.F536V,	.	.	416	1071	35	0	0	35	0.0160772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.462	P	0.307	B	.	.	1.000	N	0	N	-1.08	T	-0.908	T	0.153	T	0.081	-0.076	3.629	-0.696	-0.835	0.688	.	0.124	.	0.0064	.	0.0161	0.0489	0.0163	0	0.0064	0.0126	0.0368	0.0107	0.0020828	322	154602	rs201546189	0.0023	0.0033	0.0021	0.0025	0.0228	0.0022	0.0022	0.0195	0.0182	0.0161	0.0028	0.0089	0	0.0011	0.0228	0.0017	0.0037	0.0023	0.0061	0.0084	0.0063	0.0059	0.0151	0.0058	0.0056	0.0141	0.0137	0.0151	0	0.0041	0.0099	0	0.0005	0.0241	0.0026	0.0043	0.0025	0.001	0.78490	D	0.087	0.40747	T	0.462	0.36386	P	0.307	0.41295	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-1.08	0.77078	T	-0.13	0.08971	N	0.3	0.33904	-0.9083	0.47061	T	0.153	0.48257	T	8	0.0038359165	0.00072	T	.	.	.	0.124	0.34239	.	.	0.191931220699	0.18833	0.003083568723920587	0.00287	.	.	0.595366954803	0.52251	T	0.015359	0.12902	T	-0.49042	0.00646	T	-0.461635	0.26420	T	0.0164105266737759	0.00408	T	0.253475	0.03884	T	0.11846394	0.27910	0.19530182	0.43200	0.11846394	0.27910	0.19530182	0.43199	-2.083	0.03512	T	.	.	0.089	0.12371	B	.	.	1.280274	0.16797	12.77	0.7072585159487782	0.09390	0.00468	0.02246	N	AEI	0.026109	0.01904	N	-1.10895542048966	0.06483	0.2985627	-1.27945934883257	0.04709	0.2227442	1.83194705707854E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	0.348	-0.696	0.10719	0.866000	0.27608	.	.	0.488000	0.22294	0.005000	0.17040	0.000000	0.08366	0.010000	0.09038	.	.	.	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	0.04762	2151.11	35	chr2	131252927	.	T	G	2151.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.376;DP=1341;ExcessHet=0.1072;FS=1.394;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=38.27;MQRankSum=0.243;QD=3.25;ReadPosRankSum=0.706;SOR=0.551	GT:AD:DP:GQ:PL	0/1:230,71:301:99:981,0,5357	19	0	2	0
chr2	131479422	131479422	T	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon3:c.T341A:p.I114N,	.	.	420	1099	3	0	0	3	0.00136302	.	.	707721	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.005	B	0.051	B	0.000	U	1.000	D	2.86	M	-0.51	T	-0.428	T	0.336	T	0.557	0.897	8.646	2.24	1.023	6.683	8.038	0.424	.	.	.	0.0048	0.0514	0.0026	0	0	0.0003	0.0055	6.058e-05	0.0038421	594	154602	rs148497877	0.0002	0.0012	0.0002	0.0001	0.0053	0.0001	0.0001	0.0046	0.0044	0.0053	0.0002	0	0	0	0.0003	8.994e-06	0.0005	2.319e-05	0.0014	0.0055	0.0013	0.0015	0.0049	0.0012	0.0012	0.0043	0.0041	0.0049	0	0.0007	0	0	0	0	1.471e-05	0.0014	0	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	0.000287	0.46274	U	0.000000	0.999585	0.47691	D	.	.	.	-0.51	0.70597	T	-3.86	0.72471	D	0.97	0.98065	-0.4281	0.71128	T	0.336	0.70273	T	10	0.013592124	0.00288	T	.	.	.	0.424	0.73226	.	.	0.559044820595	0.55565	0.8252579665916356	0.82483	.	.	0.658026874065	0.61127	T	.	.	.	-0.294385	0.09201	T	-0.182667	0.56277	T	0.0711726129563591	0.08814	T	.	.	.	0.24902523	0.47894	0.29107398	0.55132	0.24902523	0.47894	0.29107398	0.55131	-11.878	0.84251	D	.	.	0.582	0.68135	P	.	.	4.190803	0.63158	24.5	0.96044983805579476	0.28544	0.79371	0.39318	D	AEFGCI	0.742309	0.68597	D	-0.09263090310879	0.37716	2.198237	-0.0865132355096149	0.35948	2.085853	0.978561469127381	0.29935	0.581397	0.33459	0	0.588066	0.40923	0	0.602189	0.34648	0	0.622129	0.49086	0	.	.	2.24	2.24	0.27264	6.887000	0.75425	.	.	0.475000	0.22001	1.000000	0.71638	0.999000	0.35428	0.962000	0.52141	0.0:0.0:0.0:1.0	8.038	0.29662	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	525.98	35	chr2	131479422	.	T	A	525.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.476e+00;DP=1031;ExcessHet=0.0000;FS=1.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.08;MQRankSum=-7.030e+00;QD=1.59;ReadPosRankSum=-1.750e-01;SOR=0.805	GT:AD:DP:GQ:PL	0/1:273,58:331:99:540,0,7174	20	0	1	0
chr2	131480177	131480177	G	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon4:c.G484A:p.G162S,	.	.	31	1432	57	2	0	61	0.0208547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.438	B	0.525	P	0.000	U	1.000	D	2.715	M	-0.38	T	-0.206	T	0.388	T	0.411	2.085	12.93	2.24	1.243	8.151	10.151	0.372	0.013739532995	.	.	2.472e-05	9.612e-05	0	0	0	1.499e-05	0	6.058e-05	0.0001153	3	26028	rs773370954	5.424e-05	0.0007	4.779e-05	6.076e-05	0.0002	4.426e-05	4.097e-05	6.541e-05	4.469e-05	2.995e-05	4.502e-05	0	0.0002	3.8e-05	0	5.229e-05	4.987e-05	8.182e-05	0.0008	0.0088	0.0007	0.0009	0.0015	0.0007	0.0006	0.0007	0.0006	0.0010	0	0.0008	0	0.0015	0.0008	0	0.0007	0	0.0012	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	0.000245	0.46924	U	0.000000	0.999796	0.49177	D	.	.	.	-0.38	0.69027	T	-4.18	0.75537	D	0.746	0.74553	-0.2061	0.77514	T	0.388	0.74253	T	10	0.7384015	0.74784	D	0.01374	0.33370	T	0.372	0.69102	.	.	0.623070239186	0.62000	0.5752379090799399	0.57452	.	.	0.8098269701	0.83465	D	.	.	.	0.0175173	0.54047	T	-0.212614	0.53445	T	0.334729466173626	0.26414	T	.	.	.	0.075779326	0.17095	0.19444855	0.43068	0.075779326	0.17095	0.19444855	0.43067	-9.435	0.70454	D	.	.	0.400	0.59555	A	.	.	5.110224	0.85422	28.6	0.99004400112898183	0.50231	0.94335	0.60838	D	AEFI	0.783927	0.71476	D	0.195489865158393	0.50981	3.283248	0.123047658734254	0.45732	2.831043	0.895999281917701	0.25967	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.24	2.24	0.27264	8.479000	0.90273	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	10.151	0.41966	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase 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	0.025	88.33	33	chr2	131480177	.	G	A	88.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=7.34;DP=1989;ExcessHet=0.0000;FS=47.862;InbreedingCoeff=-0.0374;MLEAC=1;MLEAF=0.025;MQ=52.80;MQRankSum=-7.670e+00;QD=0.42;ReadPosRankSum=0.123;SOR=7.197	GT:AD:DP:GQ:PL	0/1:188,23:211:99:102,0,5050	19	0	1	1
chr2	137056711	137056711	G	T	exonic	THSD7B	.	nonsynonymous SNV	THSD7B:NM_001316349:exon3:c.G431T:p.R144L,	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.696	P	0.22	B	0.066	N	0.998	N	1.67	L	1.89	T	-0.876	T	0.114	T	0.426	2.248	13.48	-4.4	-1.010	-0.173	11.541	0.164	0.0293832748762	0.0002	0.000998403	0.0009	0	0	0	0	0.0003	0.0022	0.0053	0.0007956	123	154602	rs147127072	0.0005	0.0005	0.0003	0.0006	0.0047	0.0004	0.0004	0.0043	0.0042	0	0.0001	3.826e-05	0	3.745e-05	0.0014	0.0002	0.0008	0.0047	0.0002	0.0002	0.0001	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	2.407e-05	0	0	0	0	0	0	8.82e-05	0	0.0046	0.658	0.04772	T	0.456	0.13403	T	0.474	0.36620	P	0.22	0.37792	B	0.065785	0.21855	N	0.563993	0.998226	0.22281	N	.	.	.	0.24	0.59583	T	-1.49	0.36385	N	0.266	0.42247	-0.8758	0.50090	T	0.114	0.40627	T	10	0.012000591	0.00260	T	0.029383	0.51906	D	0.164	0.42212	.	.	0.130388298395	0.12655	0.5454276543799753	0.54468	0.599866105322	0.55088	0.229598790407	0.01938	T	0.029984	0.23505	T	-0.435596	0.01373	T	-0.396837	0.33751	T	0.0232207487730708	0.01050	T	0.582642	0.29103	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.28027	B	.;.;.	.;.;.	0.169364	0.05586	2.041	0.95669300730307494	0.27511	0.12580	0.17355	N	AEFDCI	0.138269	0.25951	N	-0.933410484128226	0.10068	0.4793741	-1.00026396637233	0.09780	0.4885643	3.10374162427468E-5	0.03498	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.503917	0.08554	0	.	.	6.07	-4.4	0.03349	-0.165000	0.09957	-1.048000	0.06492	-0.272000	0.06708	0.003000	0.16062	0.000000	0.08366	0.918000	0.45347	0.635:0.0947:0.2703:0.0	11.541	0.49920	901	0.24189	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3418.98	37	chr2	137056711	.	G	T	3418.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=1204;ExcessHet=0.0000;FS=1.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=-4.950e-01;SOR=0.596	GT:AD:DP:GQ:PL	0/1:101,123:224:99:3433,0,2557	20	0	1	0
chr2	137663518	137663518	G	A	exonic	THSD7B	.	nonsynonymous SNV	THSD7B:NM_001316349:exon26:c.G4594A:p.V1532M,	.	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.96	D	0.599	P	0.006	N	1.000	D	1.39	L	2.36	T	-1.116	T	0.071	T	0.577	3.104	16.37	5.1	1.465	3.371	9.938	0.151	0.00526817969914	.	0.000199681	0.0004	0	0	0	0	0	0.0035	0.0022	0.0002005	31	154602	rs571404522	0.0001	0.0001	5.597e-05	0.0002	0.0019	9.844e-05	9.258e-05	0.0016	0.0016	0	0	0	0	0	0	0	6.641e-05	0.0019	9.849e-05	9.843e-05	2.569e-05	0.0002	0.0031	6.002e-05	4.876e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.085	0.32769	T	0.103	0.38305	T	.	.	.	.	.	.	0.006197	0.32207	N	0.328023	0.919821	0.27319	N	.	.	.	2.36	0.16089	T	-0.52	0.16187	N	0.189	0.22486	-1.1159	0.02608	T	0.071	0.28904	T	10	0.011755884	0.00256	T	0.005268	0.13464	T	0.151	0.39764	.	.	0.445711490874	0.44190	0.2717668069209804	0.27089	0.138909275846	0.15665	0.478206723928	0.35809	T	0.019616	0.15597	T	-0.448569	0.01152	T	-0.423591	0.30665	T	0.145036857989048	0.16701	T	0.737326	0.35372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31100	B	.;.;.	.;.;.	3.326903	0.45779	22.2	0.99781261104003049	0.86780	0.93323	0.57910	D	AEFI	.	.	.	0.217313461785539	0.52039	3.380629	0.274821124261005	0.54072	3.573506	0.00377180938983097	0.10274	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.01	5.1	0.68917	3.461000	0.52800	6.638000	0.56174	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0758:0.1355:0.7887:0.0	9.938	0.40733	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	0	0	0	0	0.02381	1514.98	36	chr2	137663518	.	G	A	1514.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.616;DP=956;ExcessHet=0.0000;FS=2.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-1.250e-01;SOR=0.522	GT:AD:DP:GQ:PL	0/1:81,67:148:99:1529,0,1903	20	0	1	0
chr2	142960678	142960678	G	C	exonic	KYNU	.	nonsynonymous SNV	KYNU:NM_001032998:exon8:c.G637C:p.D213H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.996	D	0.912	D	0.000	D	1.000	D	2.265	M	0.44	T	-0.441	T	0.335	T	0.493	3.378	17.39	5.35	2.668	6.214	19.079	0.184	0.0146019064306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.44029	T	0.028	0.54934	D	0.025	0.19245	B	0.034	0.22546	B	0.000498	0.43931	D	0.260668	0.999998	0.58761	D	2.14	0.59869	M	0.44	0.56609	T	-4.62	0.81431	D	0.522	0.55713	-0.4414	0.70683	T	0.335	0.70166	T	10	0.5629133	0.64889	D	0.014602	0.34823	T	0.184	0.45763	0.411	0.44723	0.861392150857	0.86005	0.7965275537880769	0.79605	0.0950718801951	0.10730	0.50801217556	0.39944	T	0.636928	0.88818	D	-0.00327238	0.51204	T	-0.242477	0.50558	T	0.974040567874908	0.70344	D	0.89611	0.66687	D	0.39649847	0.60489	0.39619872	0.64267	0.39649847	0.60490	0.39619872	0.64267	-9.378	0.73160	D	0.40336162957113375	0.49482	0.186	0.47997	B	.;.;.;.	.;.;.;.	3.586120	0.50577	23.0	0.99065854293338607	0.51598	0.97781	0.77086	D	AEFBI	0.896780	0.83822	D	0.496253117918684	0.66870	5.006543	0.558985198089472	0.72026	5.745163	0.999999999307194	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.35	5.35	0.76297	7.135000	0.76878	8.593000	0.77695	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.0:0.0:1.0:0.0	19.079	0.93156	921	0.19240	Aminotransferase class V domain;.;Aminotransferase class V 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	0.1111	188.92	76	chr2	142960678	.	G	C	188.92	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-6.920e-01;DP=1396;ExcessHet=0.1072;FS=223.228;InbreedingCoeff=-0.2395;MLEAC=4;MLEAF=0.222;MQ=60.00;MQRankSum=0.00;QD=0.99;ReadPosRankSum=2.43;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,16:91:49:0|1:142960678_G_C:49,0,2182:142960678	7	0	2	12
chr2	151379533	151379533	A	-	exonic	TNFAIP6	.	nonframeshift deletion	TNFAIP6:NM_007115:exon6:c.834delA:p.X278X,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	1/1:0,15,0,0:15:45:376,45,0,376,45,376,376,45,376,376	1	6	10	0
chr2	151379533	151379533	-	A	exonic	TNFAIP6	.	nonframeshift insertion	TNFAIP6:NM_007115:exon6:c.834dupA:p.X278delinsX,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	1/1:0,15,0,0:15:45:376,45,0,376,45,376,376,45,376,376	1	6	10	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.753	P	0.241	B	0.000	D	1.000	N	1.04	L	.	.	-1.008	T	0.064	T	0.589	2.522	14.39	4.94	1.467	2.498	9.504	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4167	1342.85	104	chr2	157321525	.	C	G	1342.85	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.190e+00;DP=3903;ExcessHet=17.4423;FS=278.896;InbreedingCoeff=-0.6111;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.51;ReadPosRankSum=0.851;SOR=12.437	GT:AD:DP:GQ:PL	0/1:130,55:185:62:62,0,2789	3	0	15	3
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	.	6	1446	65	5	0	75	0.0252781	.	.	250305	not_specified|not_provided|Progressive_myositis_ossificans	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.016	B	0.007	B	0.219	N	0.908	D	0.55	N	-0.81	T	-0.083	T	0.528	D	0.325	2.808	15.35	5.84	2.760	3.258	17.649	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	811	0.42639	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.09524	2734.92	86	chr2	157799450	.	G	C	2734.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-9.470e-01;DP=959;ExcessHet=0.6776;FS=0.423;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=0.267;SOR=0.647	GT:AD:DP:GQ:PL	0/1:41,32:73:99:726,0,1026	17	0	4	0
chr2	159194338	159194338	C	G	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon14:c.C2221G:p.Q741E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.985	D	0.981	D	0.000	D	1.000	D	0.55	N	2.44	T	-0.577	T	0.297	T	0.748	4.379	23.1	5.51	2.616	5.005	19.492	0.197	0.0162237660375	.	.	3.313e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs766810880	7.525e-06	7.524e-06	1.361e-06	1.375e-05	0.0002	4.04e-06	2.95e-06	6.246e-05	4.757e-05	0	0	0	0	0	0.0002	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.116	0.36497	T	0.869	0.47796	P	0.636	0.51948	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.955	0.23872	L	-0.08	0.63911	T	-1.54	0.37375	N	0.435	0.47395	-0.5770	0.65736	T	0.297	0.66858	T	10	0.36412573	0.52965	T	0.016224	0.37369	T	0.197	0.47942	0.618	0.75232	0.642454921559	0.63950	0.7424170143003654	0.74187	0.826036576079	0.67408	0.603979110718	0.53465	T	0.103331	0.41188	T	-0.0618815	0.42612	T	-0.0669859	0.65841	T	0.265165030956268	0.23539	T	0.939006	0.77019	D	0.32066745	0.54696	0.34912696	0.60542	0.32066745	0.54696	0.34912696	0.60542	-11.091	0.80154	D	.	.	0.225	0.45665	B	.	.	4.267226	0.64895	24.8	0.99265193094458803	0.57356	0.97492	0.75099	D	AEFBI	0.721307	0.67159	D	0.458190575226291	0.64669	4.726754	0.531748674462113	0.70138	5.461278	0.999999999984099	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.608524	0.38960	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	5.080000	0.64267	7.682000	0.65344	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.492	0.95044	640	0.64132	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2243.98	37	chr2	159194338	.	C	G	2243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.420e+00;DP=869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-3.670e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/1:76,96:172:99:2258,0,1846	20	0	1	0
chr2	162219117	162219117	A	G	exonic	FAP	.	nonsynonymous SNV	FAP:NM_001291807:exon7:c.T478C:p.F160L	.	.	444	1071	6	1	0	8	0.00372093	.	.	707803	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.001	B	0.205	B	0.377	N	0.989	N	0.975	L	1.56	T	-1.027	T	0.046	T	0.094	1.980	12.58	4.48	2.307	0.183	6.017	0.096	.	0.0045	0.00379393	0.0057	0.0014	0.0025	0	0.0042	0.0081	0.0045	0.0047	0.0060284	932	154602	rs78722278	0.0077	0.0078	0.0078	0.0077	0.0090	0.0076	0.0075	0.0088	0.0088	0.0012	0.0033	0.0015	2.535e-05	0.0040	0.0072	0.0090	0.0066	0.0044	0.0052	0.0052	0.0057	0.0047	0.0088	0.0049	0.0048	0.0082	0.0080	0.0016	0	0.0032	0.0014	0	0.0037	0.0068	0.0088	0.0038	0.0052	0.644	0.04943	T	0.658	0.06554	T	0.0	0.07471	B	0.0	0.37080	B	0.376956	0.13445	N	0.706810	0.989018	0.24345	N	1.73	0.44655	L	1.56	0.29602	T	-1.25	0.31576	N	0.149	0.21449	-1.0266	0.21560	T	0.046	0.19720	T	10	0.0083857775	0.00190	T	.	.	.	0.096	0.27654	0.668	0.80602	0.332646915603	0.32870	0.544332967308418	0.54359	0.11656438583	0.13151	0.381922006607	0.22530	T	0.255272	0.62604	T	-0.619776	0.00110	T	-0.652654	0.08769	T	0.0217926043882547	0.00885	T	0.461354	0.15048	T	0.15334739	0.34764	0.11879058	0.28673	0.15334739	0.34764	0.11879058	0.28673	-6.748	0.52171	T	.	.	0.593	0.71521	P	.;.;.	.;.;.	1.656862	0.21132	15.07	0.9485787993232252	0.25665	0.28551	0.23585	N	AEFBI	0.295096	0.40530	N	-0.370313798676754	0.26531	1.44876	-0.227177701955888	0.30566	1.722142	0.998519735330986	0.37109	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.71	4.48	0.53973	0.523000	0.22632	4.512000	0.43652	0.754000	0.88378	0.008000	0.17931	1.000000	0.68203	0.998000	0.85391	0.5914:0.1215:0.0:0.2871	6.017	0.18836	355	0.85216	Dipeptidylpeptidase IV, N-terminal domain;Dipeptidylpeptidase IV, N-terminal domain;Dipeptidylpeptidase IV, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	573.98	33	chr2	162219117	.	A	G	573.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.019e+00;DP=721;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-7.290e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:16,27:43:99:588,0,366	20	0	1	0
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	YES	425	1072	24	1	0	26	0.0119816	1.0000	0.938	516567	not_provided|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|Immunodeficiency_95|IFIH1-related_disorder	MedGen:C3661900|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.460	23.8	4.74	2.331	7.182	18.077	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2711.11	33	chr2	162268086	.	C	T	2711.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.375;DP=809;ExcessHet=0.1072;FS=2.223;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.43;ReadPosRankSum=-1.350e-01;SOR=0.498	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1120,0,957	19	0	2	0
chr2	162276886	162276886	G	A	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon11:c.C2105T:p.T702I,	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	.	436	1075	9	2	0	13	0.00601017	.	.	516575	Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.21	T	0.0	B	0.001	B	0.398	N	1.000	N	0.755	N	3.57	T	-0.978	T	0.006	T	0.057	1.118	9.558	-5.56	-1.907	-0.203	3.213	0.030	0.00311255286654	0.0022	0.00119808	0.0022	0.0006	0.0010	0	0.0006	0.0035	0.0022	0.0006	0.0022509	348	154602	rs72650663	0.0034	0.0034	0.0034	0.0034	0.0040	0.0033	0.0033	0.0039	0.0038	0.0006	0.0013	0.0040	0	0.0010	0.0040	0.0040	0.0038	0.0005	0.0025	0.0025	0.0028	0.0022	0.0043	0.0023	0.0022	0.0039	0.0037	0.0006	0	0.0016	0.0040	0	0.0007	0.0034	0.0043	0.0033	0.0010	0.227	0.18498	T	0.216	0.26226	T	0.0	0.02946	B	0.001	0.04355	B	0.398190	0.13161	N	0.752997	1	0.08975	N	1.04	0.26193	L	3.57	0.04645	T	-1.61	0.38734	N	0.155	0.16028	-0.9783	0.35390	T	0.006	0.01870	T	10	0.0051235557	0.00111	T	0.003113	0.06756	T	0.030	0.07022	.	.	0.154104182512	0.14974	0.14239699947887652	0.14162	0.0253377058962	0.02582	0.310032010078	0.11912	T	0.110274	0.42483	T	-0.716175	0.00029	T	-0.80152	0.01865	T	0.0012033429791264	0.00012	T	0.641436	0.26514	T	0.07622874	0.17225	0.07474176	0.16384	0.07366213	0.16476	0.09073053	0.21293	-4.842	0.35077	T	0.2081342723913996	0.27833	0.084	0.41977	B	.;.;.	.;.;.	0.056580	0.04687	1.330	0.89092026717404338	0.18504	0.07279	0.13301	N	AEFBI	0.093619	0.18940	N	-1.26431277885618	0.04113	0.1850451	-1.29815290767241	0.04456	0.2102195	0.753146186280519	0.23392	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.36	-5.56	0.02328	-0.177000	0.09789	0.032000	0.13746	-0.106000	0.15538	0.000000	0.06391	0.161000	0.23262	0.986000	0.61781	0.5061:0.0865:0.1488:0.2586	3.213	0.06292	446	0.79659	Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1740.11	34	chr2	162276886	.	G	A	1740.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.750;DP=807;ExcessHet=0.1072;FS=0.614;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=0.219;SOR=0.767	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1057,0,1282	19	0	2	0
chr2	174877875	174877875	C	T	exonic	CHN1	.	nonsynonymous SNV	CHN1:NM_001371514:exon6:c.G565A:p.D189N	Duane retraction syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.0	B	0.0	B	0.019	N	1.000	N	-0.345	N	-0.01	T	-0.991	T	0.125	T	0.044	1.646	11.46	4.03	0.795	4.077	11.569	0.084	0.00700472838458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.07163	T	0.564	0.11479	T	0.0	0.02946	B	0.0	0.01387	B	0.018542	0.27457	N	0.421699	0.77319	0.29414	N	0.755	0.19153	N	-0.52	0.70717	T	-0.19	0.09965	N	0.186	0.32148	-0.9908	0.32398	T	0.125	0.43028	T	10	0.08493042	0.14287	T	0.007005	0.18541	T	0.084	0.24469	0.121	0.02793	0.426712279199	0.42290	0.43004795101742194	0.42921	0.303614151573	0.32687	0.415444612503	0.27208	T	0.093999	0.39326	T	-0.198066	0.21084	T	-0.522284	0.20064	T	0.568062543869019	0.35161	D	0.909409	0.67928	D	0.060816955	0.12522	0.048977397	0.07389	0.060816955	0.12522	0.048977397	0.07389	-3.748	0.28358	T	.	.	0.068	0.05711	B	.;.	.;.	3.167569	0.42947	21.6	0.96430523365336163	0.29792	0.91150	0.52958	D	AEFDBHIJ	0.246187	0.36699	N	-0.442411899085144	0.23998	1.292721	-0.201623711603096	0.31479	1.781831	0.999999996944252	0.74766	0.706298	0.61202	0	0.578056	0.33634	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.03	0.46115	4.108000	0.57555	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.856:0.0:0.144	11.569	0.50074	853	0.34956	.;.	.	.	.	.	.	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	0.03125	328.02	62	chr2	174877875	.	C	T	328.02	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-2.755e+00;DP=1334;ExcessHet=0.0000;FS=57.012;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=3.42;ReadPosRankSum=3.13;SOR=6.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,21:96:99:0|1:174877873_A_G:340,0,2047:174877873	15	0	1	5
chr2	176093094	176093094	-	GCGGCA	exonic	HOXD13	.	nonframeshift insertion	HOXD13:NM_000523:exon1:c.204_205insGCGGCA:p.A71_S72insAA,	Brachydactyly, type D, Autosomal dominant;Brachydactyly, type E, Autosomal dominant;Syndactyly, type V, Autosomal dominant;Synpolydactyly 1, Autosomal dominant	.	8	704	635	169	6	979	0.408652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0.0008	0	0	0	0.0013	0.0001035	16	154602	rs775525473	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0009	0.0008	0.0002	7.082e-05	0	0.0001	0	0.0016	7.043e-05	0.0003	0.0011	6.616e-05	6.568e-05	5.173e-05	8.128e-05	0.0006	3.539e-05	2.633e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	8.907e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	14698.8	35	chr2	176093094	.	G	A,GGCGGCA	14698.8	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.290;DP=1345;ExcessHet=1.3217;FS=0.527;InbreedingCoeff=-0.0027;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=0.902;SOR=0.632	GT:AD:DP:GQ:PL	1/1:0,72,0:72:99:2242,216,0,2242,216,2242	10	2	8	0
chr2	178324247	178324247	C	T	exonic	OSBPL6	.	nonsynonymous SNV	OSBPL6:NM_145739:exon2:c.C110T:p.P37L	.	.	430	1056	34	2	0	38	0.0176744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.201	B	0.035	B	0.137	N	0.984	D	0.895	L	1.25	T	-1.089	T	0.061	T	0.269	2.720	15.05	4.97	2.797	1.481	10.481	0.025	.	0.0019	0.00698882	0.0087	0.0007	0.0021	0.0003	0	0.0045	0.0073	0.0305	0.0042884	663	154602	rs34874235	0.0037	0.0038	0.0031	0.0043	0.0243	0.0036	0.0036	0.0235	0.0231	0.0005	0.0012	0.0001	7.729e-05	5.868e-05	0.0097	0.0027	0.0037	0.0243	0.0023	0.0023	0.0022	0.0025	0.0247	0.0021	0.0021	0.0211	0.0197	0.0006	0	0.0012	0.0003	0.0002	0.0003	0	0.0027	0.0028	0.0247	0.022	0.65419	D	0.184	0.47336	T	0.065	0.29693	B	0.032	0.22741	B	0.136896	0.18431	N	0.560099	0.982406	0.40094	D	0	0.06538	N	1.25	0.36512	T	-1.14	0.38734	N	0.302	0.35194	-1.0895	0.05616	T	0.061	0.25635	T	10	0.0038985908	0.00074	T	.	.	.	0.025	0.05312	.	.	0.0675242888579	0.06100	0.2651952141909519	0.26432	0.343719139583	0.36299	0.414854466915	0.27127	T	0.013066	0.11369	T	-0.501483	0.00561	T	-0.474868	0.24994	T	0.00769843631727962	0.00090	T	0.957104	0.83854	D	0.07133131	0.15784	0.062420767	0.12208	0.07133131	0.15783	0.062420767	0.12208	-4.84	0.36655	T	.	.	0.071	0.11172	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.386064	0.46858	22.4	0.99623548177428622	0.75594	0.55822	0.29961	D	AEFDBI	0.084559	0.17137	N	-0.0939410315234078	0.37659	2.194098	0.0889973802018762	0.43994	2.689787	0.998386936897328	0.36869	0.615465	0.37627	0	0.563428	0.19063	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.9	4.97	0.65419	1.533000	0.35645	.	.	0.599000	0.40250	0.891000	0.31220	1.000000	0.68203	0.711000	0.34484	0.2265:0.6504:0.1231:0.0	10.481	0.43878	322	0.86904	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1616.11	35	chr2	178324247	.	C	T	1616.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.384;DP=789;ExcessHet=0.1072;FS=5.610;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=1.70;SOR=1.224	GT:AD:DP:GQ:PL	0/1:28,32:60:99:806,0,720	19	0	2	0
chr2	178450414	178450414	-	AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon1:c.29_30insAGCCGTCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT:p.C10*,	Dystonia 16, Autosomal recessive	.	1	1390	34	0	97	131	0.0120824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.942e-05	4.241e-05	3.131e-05	2.751e-05	5.397e-06	2.217e-05	1.97e-05	1.94e-06	1.28e-06	0	0	3.826e-05	0	0.0007	0	5.397e-06	1.656e-05	0	0.0020	0.0032	0.0019	0.0020	0.0029	0.0018	0.0017	0.0018	0.0015	0.0019	0.0044	0.0024	0.0020	0.0015	0.0023	0	0.0018	0.0033	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	10094.64	181	chr2	178450414	.	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	10094.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.69;DP=2294;ExcessHet=0.3300;FS=1.952;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-6.762e+00;SOR=0.868	GT:AD:DP:GQ:PL	0/1:185,124:309:99:4589,0,7329	18	0	3	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	0/1:12,22,5:39:95:.:.:142,0,95,166,120,800	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	0/1:12,22,5:39:95:.:.:142,0,95,166,120,800	0	0	8	4
chr2	190294624	190294624	C	T	exonic	HIBCH	.	nonsynonymous SNV	HIBCH:NM_014362:exon4:c.G226A:p.E76K	3-hydroxyisobutryl-CoA hydrolase deficiency, Autosomal recessive	.	5	1516	1	0	0	1	0.000329707	.	.	952868	Beta-hydroxyisobutyryl-CoA_deacylase_deficiency	MONDO:MONDO:0009603,MedGen:C0342738,OMIM:250620,Orphanet:88639	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.753	P	0.000	D	1.000	D	1.865	L	-0.36	T	-0.048	T	0.456	T	0.899	4.573	24.8	5.11	2.365	6.489	16.043	0.657	0.0987548746421	.	.	1.65e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs778434126	1.305e-05	1.71e-05	1.23e-05	1.38e-05	0.0022	8.34e-06	6.72e-06	0.0012	0.0010	2.999e-05	0	0	0	0	0.0022	5.416e-06	1.663e-05	0	1.314e-05	1.313e-05	2.572e-05	0	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	0	0.0005	0	0.083	0.43085	T	0.268	0.22494	T	0.98	0.65571	D	0.753	0.56122	P	0.000000	0.84330	D	0.047076	1	0.81001	D	1.44	0.36004	L	-0.36	0.73523	T	-2.95	0.63323	D	0.904	0.91047	-0.0475	0.81260	T	0.456	0.78802	T	10	0.79898924	0.79329	D	0.098755	0.76995	D	0.657	0.87135	0.506	0.60078	0.892757099709	0.89169	0.831023251482803	0.83061	0.205256797494	0.22944	0.535796582699	0.43852	T	0.521707	0.92004	D	0.247592	0.78374	D	0.22553	0.84451	D	0.935854852199554	0.60440	D	0.985868	0.95230	D	0.8859431	0.90162	0.6520371	0.79637	0.8859431	0.90163	0.6520371	0.79638	-9.802	0.72718	D	0.3163981401283377	0.41444	0.418	0.66138	A	.;.;.	.;.;.	4.225085	0.63937	24.6	0.99891492711594565	0.96513	0.97481	0.75027	D	AEFBI	0.809437	0.73295	D	0.602451348370505	0.73329	5.948426	0.602602220248434	0.75127	6.25619	0.998787008920485	0.37667	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.11	5.11	0.69188	6.876000	0.75358	5.945000	0.51547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.043	0.80498	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	737.98	35	chr2	190294624	.	C	T	737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.950e-01;DP=843;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.11;ReadPosRankSum=1.34;SOR=0.509	GT:AD:DP:GQ:PL	0/1:47,34:81:99:752,0,1137	20	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	1.000	D	-1.67	N	.	.	-0.977	T	0.034	T	0.646	1.588	11.27	5.02	1.896	6.225	14.399	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5227.32	96	chr2	197523648	.	T	C	5227.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-1.034e+00;DP=1714;ExcessHet=36.0830;FS=391.571;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=60.00;MQRankSum=0.00;QD=3.31;ReadPosRankSum=0.282;SOR=12.797	GT:AD:DP:GQ:PL	0/1:43,27:70:99:192,0,661	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	2/3:4,0,22,7:33:57:610,573,655,65,151,57,358,467,0,449	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	2/3:4,0,22,7:33:57:610,573,655,65,151,57,358,467,0,449	2	0	4	0
chr2	201492473	201492473	A	G	exonic	C2CD6	.	nonsynonymous SNV	C2CD6:NM_001168221:exon15:c.T3868C:p.F1290L,	.	.	521	990	11	0	0	11	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	.	.	1.000	N	0.14	N	1.24	T	-0.986	T	0.034	T	0.035	-0.787	0.710	2.04	0.588	0.336	4.590	0.042	.	.	0.00159744	0.0065	0.0006	0.0199	0	0	0.0015	0.0140	0.0130	0.0010349	160	154602	rs184129762	0.0015	0.0014	0.0011	0.0019	0.0143	0.0014	0.0014	0.0118	0.0114	0.0002	0.0010	3.989e-05	2.811e-05	5.722e-05	0.0143	0.0008	0.0018	0.0123	0.0010	0.0010	0.0008	0.0011	0.0108	0.0008	0.0008	0.0084	0.0076	0.0001	0.0055	0.0006	0	0	9.43e-05	0.0034	0.0010	0.0024	0.0108	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.36691	T	2.14	0.00347	N	0.066	0.03841	-0.9864	0.33494	T	0.034	0.14769	T	9	0.002725631	0.00042	T	.	.	.	0.042	0.11227	0.213	0.13210	0.0401082797425	0.02173	0.020741532748635407	0.02027	0.15686944455	0.17710	0.318503677845	0.13194	T	.	.	.	-0.712102	0.00031	T	-0.784631	0.02316	T	0.000877498213199432	0.00008	T	0.382862	0.09330	T	.	.	.	.	.	.	.	.	-3.04	0.10618	T	.	.	0.337	0.55713	B	.	.	0.905654	0.12797	9.314	0.71116001165546405	0.09520	0.00296	0.01581	N	AEFBI	0.022213	0.01082	N	-1.01495353258299	0.08293	0.3883259	-0.902287385471047	0.12041	0.6170562	2.09519457158267E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	2.04	0.25787	0.661000	0.24706	.	.	-0.274000	0.06627	0.001000	0.13787	0.970000	0.29701	0.899000	0.43558	0.2915:0.0:0.5406:0.1679	4.590	0.11694	572	0.70300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1321.98	53	chr2	201492473	.	A	G	1321.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.566;DP=962;ExcessHet=0.0000;FS=3.255;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=1.78;SOR=0.780	GT:AD:DP:GQ:PL	0/1:71,55:126:99:1336,0,1843	20	0	1	0
chr2	202983529	202983529	A	T	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001352679:exon13:c.A1051T:p.I351F	.	.	447	1069	6	0	0	6	0.00279851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.013	B	0.007	B	0.001	D	1.000	D	1.1	L	.	.	-0.940	T	0.107	T	0.562	2.165	13.20	3.47	0.739	0.402	8.101	0.173	0.00300504959566	0.0002	.	0.0003	0	0.0002	0	0	4.531e-05	0	0.0019	0.0002587	40	154602	rs201849758	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0002	0.0017	0.0016	0	0.0001	7.676e-05	0	0	0.0012	9.374e-05	0.0003	0.0019	0.0001	0.0001	0.0001	0.0002	0.0019	9.151e-05	7.706e-05	0.0010	0.0007	7.236e-05	0	0	0	0	0	0.0032	0.0001	0.0005	0.0019	0.005	0.63226	D	0.326	0.18789	T	0.013	0.16609	B	0.007	0.12992	B	0.000629	0.42799	D	0.104288	0.573	0.32313	D	2.28	0.64929	M	.	.	.	-0.72	0.20358	N	0.274	0.42834	-0.9403	0.42568	T	0.107	0.38832	T	9	0.016831487	0.00356	T	0.003005	0.06427	T	0.173	0.43840	.	.	0.250039746154	0.24611	0.24507498920419754	0.24421	0.317966989377	0.34026	0.341754376888	0.16701	T	0.131616	0.46122	T	-0.311242	0.07639	T	-0.227117	0.52051	T	0.0734342166171135	0.09124	T	0.839916	0.51465	T	0.15259795	0.34633	0.08874653	0.20711	0.15259795	0.34633	0.08874653	0.20711	-3.78	0.20506	T	.	.	0.080	0.13783	B	.;.;.;.;.	.;.;.;.;.	1.601493	0.20470	14.77	0.95508755904834319	0.27110	0.62598	0.31830	D	AEFGI	0.119999	0.23396	N	-0.368050891942807	0.26615	1.453846	-0.234159537018009	0.30322	1.706	5.69325078014256E-4	0.07335	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	4.63	3.47	0.38831	0.430000	0.21147	.	.	0.756000	0.94297	0.908000	0.31627	0.224000	0.23735	0.990000	0.65344	0.9066:0.0:0.0934:0.0	8.101	0.30015	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	827.98	33	chr2	202983529	.	A	T	827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.145e+00;DP=751;ExcessHet=0.0000;FS=9.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=0.811;SOR=0.176	GT:AD:DP:GQ:PL	0/1:34,36:70:99:842,0,984	20	0	1	0
chr2	209678637	209678637	C	A	exonic	MAP2	.	nonsynonymous SNV	MAP2:NM_001363911:exon5:c.C328A:p.Q110K	.	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.997	D	0.99	D	0.000	D	1.000	D	0.695	N	2.03	T	-1.113	T	0.074	T	0.616	5.003	29.4	5.04	2.315	6.555	18.412	0.196	0.015733869454	0.0004	0.000599042	0.0004	0	0.0003	0	0	0.0006	0	0.0002	0.0003363	52	154602	rs138065981	0.0005	0.0005	0.0005	0.0006	0.0059	0.0005	0.0005	0.0044	0.0038	0.0001	0.0003	0.0003	0	0	0.0059	0.0006	0.0007	0.0004	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	7.223e-05	0	0.0005	0.0006	0	0	0	0.0006	0.0009	0.0002	0.001	0.91255	D	0.923	0.92824	T	0.997	0.70673	D	0.977	0.78936	D	0.000088	0.51296	D	0.000000	0.999917	0.51042	D	2.175	0.60977	M	2.03	0.20959	T	-0.57	0.67241	N	0.456	0.54757	-1.1130	0.02824	T	0.074	0.30023	T	10	0.055562258	0.06092	T	0.015734	0.36624	T	0.196	0.47777	.	.	0.268702046668	0.26493	0.39222613536877304	0.39137	0.411919561254	0.41941	0.77146166563	0.77643	T	0.434603	0.78163	T	-0.257727	0.13167	T	-0.250499	0.49767	T	0.0715834465914999	0.08871	T	0.978627	0.92475	D	0.36543626	0.58246	0.2970841	0.55741	0.36543626	0.58246	0.2970841	0.55741	-3.15	0.11879	T	.	.	0.222	0.51891	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.475762	0.69783	25.4	0.99587142264947204	0.73395	0.98265	0.81073	D	AEFGI	0.752294	0.69284	D	0.358737731209353	0.59202	4.097746	0.427853965149935	0.63305	4.56179	0.999999861544069	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	6.494000	0.73569	5.898000	0.50850	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.412	0.90499	830	0.39242	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	529.98	34	chr2	209678637	.	C	A	529.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.394;DP=727;ExcessHet=0.0000;FS=1.100;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-3.810e-01;SOR=0.963	GT:AD:DP:GQ:PL	0/1:26,23:49:99:544,0,621	20	0	1	0
chr2	216122121	216122121	G	A	exonic	XRCC5	.	nonsynonymous SNV	XRCC5:NM_021141:exon6:c.G551A:p.R184H,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.002	B	0.002	N	1.000	N	1.245	L	1.48	T	-1.066	T	0.048	T	0.124	1.309	10.29	-10.2	-2.731	-2.551	4.092	0.020	0.00403088899827	7.7e-05	.	0.0001	0	0.0002	0	0	0.0002	0	6.066e-05	0.0001294	20	154602	rs61752200	9.851e-05	9.85e-05	8.168e-05	0.0001	0.0038	8.511e-05	7.981e-05	0.0026	0.0022	2.987e-05	4.472e-05	3.826e-05	0	0	0.0038	8.903e-05	0.0001	0.0001	0.0001	0.0001	8.994e-05	0.0002	0.0008	8.66e-05	7.252e-05	0.0003	0.0002	2.406e-05	0	0.0002	0	0	0	0.0034	0.0001	0.0005	0.0008	0.179	0.22053	T	0.303	0.20164	T	0.001	0.07471	B	0.002	0.06944	B	0.001745	0.00822	N	2.651550	1	0.08975	N	0.06	0.08197	N	1.48	0.31731	T	0.36	0.03700	N	0.116	0.10483	-1.0663	0.10246	T	0.048	0.20355	T	10	0.03489968	0.01716	T	0.004031	0.09587	T	0.020	0.03691	.	.	0.257342827899	0.25358	0.20059215172771536	0.19976	0.971778868319	0.73390	0.260984778404	0.05008	T	0.111173	0.42646	T	-0.490415	0.00646	T	-0.705555	0.05527	T	0.0205425225578992	0.00754	T	0.369963	0.08710	T	0.03827622	0.05070	0.038111523	0.03610	0.03827622	0.05070	0.038111523	0.03609	-4.249	0.27455	T	.	.	0.065	0.01909	B	.;.	.;.	-0.453521	0.02021	0.181	0.78634872101477438	0.12386	0.06657	0.12675	N	AEFBCI	0.115376	0.22687	N	-1.75245388934732	0.00672	0.02900261	-1.90625382178999	0.00476	0.02107284	0.999999996246622	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.09	-10.2	0.00305	-2.533000	0.01017	-3.551000	0.02702	-0.892000	0.02379	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3868:0.3753:0.0881:0.1498	4.092	0.09446	875	0.30485	Ku70/Ku80, N-terminal alpha/beta|von Willebrand factor, type A;Ku70/Ku80, N-terminal alpha/beta|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	724.98	34	chr2	216122121	.	G	A	724.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.680e-01;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=0.601;SOR=0.733	GT:AD:DP:GQ:PL	0/1:26,31:57:99:739,0,590	20	0	1	0
chr2	217809892	217809892	G	A	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon28:c.C4850T:p.T1617M	.	.	420	1101	1	0	0	1	0.000453926	.	.	2364013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.955	D	0.000	D	1.000	D	0.895	L	1.51	T	-1.035	T	0.109	T	0.439	3.389	17.44	3.5	1.067	4.577	12.280	0.137	0.0352747906961	.	.	7.417e-05	9.614e-05	0.0003	0	0	5.997e-05	0	6.058e-05	5.82e-05	9	154602	rs758979599	5.2e-05	5.2e-05	4.902e-05	5.502e-05	0.0003	4.259e-05	3.889e-05	6.092e-05	3.953e-05	2.987e-05	0.0001	0	5.038e-05	3.745e-05	0.0003	4.498e-05	9.936e-05	8.117e-05	9.201e-05	9.193e-05	8.994e-05	9.418e-05	0.0002	5.529e-05	4.366e-05	5.842e-05	4.239e-05	4.827e-05	0	0.0002	0	0	0	0	0.0001	0.0005	0	0.122	0.27663	T	0.066	0.53426	T	1.0	0.90584	D	0.955	0.69585	D	0.000145	0.49130	D	0.137270	0.683874	0.33260	D	1.39	0.34934	L	1.51	0.30937	T	-1.99	0.45949	N	0.523	0.56662	-1.0350	0.18857	T	0.109	0.39320	T	10	0.22896606	0.39814	T	0.035275	0.56238	D	0.137	0.36984	0.44	0.49484	0.266724437049	0.26276	0.25080430415334676	0.24994	0.586849640528	0.54273	0.568106532097	0.48410	T	0.068177	0.33390	T	-0.250291	0.14062	T	-0.3716	0.36702	T	0.330059379339218	0.26227	T	0.911709	0.71494	D	0.04405431	0.06974	0.07519513	0.16528	0.04405431	0.06973	0.07519513	0.16528	-4.125	0.25658	T	.	.	0.074	0.07365	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.264420	0.64833	24.8	0.99781381184217377	0.86780	0.96498	0.69439	D	AEFDBI	0.472845	0.51778	N	0.291477854118713	0.55716	3.735686	0.285883904583775	0.54715	3.635622	0.999998418780407	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.38	3.5	0.39181	6.708000	0.74483	7.613000	0.61989	0.636000	0.52005	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0826:0.0:0.9174:0.0	12.280	0.54076	940	0.13648	Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-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	794.98	37	chr2	217809892	.	G	A	794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.22;DP=953;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-3.600e-01;SOR=0.580	GT:AD:DP:GQ:PL	0/1:39,29:68:99:809,0,939	20	0	1	0
chr2	218072830	218072830	C	A	exonic	RUFY4	.	nonsynonymous SNV	RUFY4:NM_198483:exon6:c.C331A:p.R111S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	0.636	N	1.000	D	0.345	N	1.62	T	-1.026	T	0.075	T	0.355	1.813	12.02	4.08	2.281	4.268	14.607	0.134	0.0143507460869	.	0.00139776	0.0004	0.0029	0.0034	0	0	0	0	0	0.0001617	25	154602	rs139730449	0.0001	0.0001	0.0002	0.0001	0.0032	0.0001	0.0001	0.0027	0.0025	0.0032	0.0003	0	0	0	0.0012	3.431e-05	0.0006	2.53e-05	0.0009	0.0009	0.0010	0.0008	0.0030	0.0008	0.0007	0.0025	0.0024	0.0030	0	0.0003	0	0	0	0	8.819e-05	0.0024	0	0.019	0.61437	D	0.031	0.57587	D	.	.	.	.	.	.	0.635928	0.10643	N	0.768768	1	0.81001	D	1.1	0.28011	L	1.62	0.28189	T	-1.73	0.41239	N	0.391	0.47949	-1.0259	0.21788	T	0.075	0.30086	T	8	0.011500865	0.00251	T	0.014351	0.34408	T	0.134	0.36365	0.577	0.70217	0.527958119908	0.52444	0.26982269490165733	0.26895	0.051584769685	0.05677	0.282365530729	0.07825	T	0.023188	0.23072	T	-0.445911	0.01194	T	-0.416348	0.31495	T	0.0338290306445298	0.02609	T	0.636336	0.25008	T	0.2544487	0.48473	0.22803141	0.47832	0.2544487	0.48473	0.22803141	0.47831	-8.574	0.64917	D	.	.	0.312	0.53936	B	.;.	.;.	2.747361	0.36003	20.1	0.9786890060290212	0.36520	0.81991	0.41290	D	AEFDBHCI	0.756317	0.69562	D	-0.120842671469494	0.36484	2.109609	-0.140111393588641	0.33790	1.936693	0.999999844529767	0.74766	0.65861	0.49226	0	0.61073	0.52368	0	0.725225	0.93170	0	0.542086	0.14980	0	.	.	4.08	4.08	0.46880	3.670000	0.54305	2.480000	0.32936	0.545000	0.25583	0.990000	0.36992	0.868000	0.27561	0.194000	0.21720	0.0:1.0:0.0:0.0	14.607	0.68081	894	0.26265	RUN domain|RUN domain|RUN domain;RUN domain|RUN domain|RUN 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	1149.98	38	chr2	218072830	.	C	A	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=839;ExcessHet=0.0000;FS=2.466;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-3.220e-01;SOR=0.496	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1164,0,1374	20	0	1	0
chr2	218083120	218083120	G	A	exonic	RUFY4	.	nonsynonymous SNV	RUFY4:NM_198483:exon11:c.G1366A:p.E456K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.888	P	0.287	B	0.029	N	0.509	N	0.205	N	1.17	T	-1.007	T	0.068	T	0.353	2.326	13.74	2.89	1.955	1.806	8.391	0.045	0.0186849884476	0.0012	0.000399361	0.0006	0.0001	8.693e-05	0	0	0.0010	0.0011	0	0.0005433	84	154602	rs200129236	0.0005	0.0005	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0007	0.0001	0.0149	2.519e-05	0	0.0015	0.0001	0.0017	2.32e-05	0.0006	0.0006	0.0005	0.0006	0.0004	0.0005	0.0004	0.0002	0.0002	0.0002	0	0	0.0159	0	0	0	0.0004	0.0009	0	0.004	0.65419	D	0.025	0.56640	D	0.888	0.48822	P	0.287	0.40572	B	0.028882	0.25534	N	0.277746	0.999881	0.31661	N	1.845	0.48678	L	0.36	0.57880	T	-1.66	0.50175	N	0.489	0.52297	-1.0068	0.27912	T	0.068	0.27913	T	10	0.0051163733	0.00111	T	0.018685	0.40835	T	0.045	0.12272	.	.	0.552980905328	0.54955	0.20619499349635356	0.20536	0.0534819132666	0.05892	0.432508707047	0.29552	T	0.055442	0.30008	T	-0.290384	0.09598	T	-0.338737	0.40487	T	0.0154080583417271	0.00345	T	0.827217	0.49813	T	0.1329763	0.30946	0.14783856	0.34969	0.1329763	0.30946	0.14783856	0.34969	-6.404	0.49540	T	.	.	0.134	0.28976	B	.;.	.;.	3.981834	0.58545	24.0	0.99352112623511657	0.60615	0.68777	0.33931	D	AEFDBI	0.099755	0.20073	N	-0.0543728196602777	0.39407	2.323422	0.0141178274503136	0.40368	2.408114	0.999903451704761	0.45458	0.553676	0.25195	0	0.378119	0.05977	1	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.83	2.89	0.32713	1.620000	0.36586	6.511000	0.55808	0.657000	0.54293	0.965000	0.33920	1.000000	0.68203	0.898000	0.43474	0.0:0.2674:0.7326:0.0	8.391	0.31691	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1903.98	35	chr2	218083120	.	G	A	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.560e-01;DP=833;ExcessHet=0.0000;FS=6.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.00;ReadPosRankSum=3.06;SOR=0.980	GT:AD:DP:GQ:PL	0/1:35,77:112:99:1918,0,743	20	0	1	0
chr2	218217496	218217496	G	C	exonic	ARPC2	.	nonsynonymous SNV	ARPC2:NM_005731:exon1:c.G26C:p.R9P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.998	D	0.934	D	0.000	D	1.000	D	2.76	M	.	.	-0.109	T	0.459	T	0.891	4.880	28.0	5.45	2.835	7.270	17.235	0.513	0.104189998129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.277	0.60337	T	0.998	0.73220	D	0.934	0.66904	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.72	0.79541	M	.	.	.	-4.67	0.85247	D	0.866	0.86297	-0.1087	0.79898	T	0.459	0.78981	T	9	0.8234941	0.81540	D	0.10419	0.77863	D	0.513	0.79156	0.502	0.59460	0.703440646678	0.70086	0.9333937753216618	0.93318	2.37341502255	0.96965	0.81335234642	0.84006	D	0.315394	0.68700	T	0.398118	0.89803	D	0.334093	0.89675	D	0.998154938220978	0.93375	D	0.916908	0.72182	D	0.95587873	0.96863	0.92379576	0.96664	0.95587873	0.96863	0.92379576	0.96665	-3.952	0.23083	T	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.392167	0.90332	31	0.99638235360310656	0.76510	0.83946	0.43035	D	ALL	0.958715	0.97865	D	0.869358285525551	0.90180	10.28843	0.837871592239494	0.92288	11.34079	0.999999999999366	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.45	5.45	0.79688	6.355000	0.72985	9.595000	0.81054	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.235	0.86879	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	322.98	34	chr2	218217496	.	G	C	322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.160e+00;DP=832;ExcessHet=0.0000;FS=2.449;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.33;ReadPosRankSum=0.740;SOR=0.628	GT:AD:DP:GQ:PL	0/1:34,17:51:99:337,0,865	20	0	1	0
chr2	218367740	218367740	C	T	exonic	CATIP	.	nonsynonymous SNV	CATIP:NM_001320865:exon10:c.C973T:p.H325Y	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.461	P	0.136	B	0.000	D	0.993	D	1.565	L	.	.	-0.749	T	0.181	T	0.263	1.423	10.70	4.9	2.246	4.208	17.671	0.142	0.0262518304468	0.0006	0.000798722	0.0009	0.0004	0.0004	0	0	0.0014	0.0020	0	0.0005369	83	154602	rs150944493	0.0005	0.0005	0.0005	0.0005	0.0031	0.0004	0.0004	0.0020	0.0017	0.0006	0.0002	0.0147	0	0	0.0031	0.0001	0.0015	3.513e-05	0.0006	0.0006	0.0006	0.0007	0.0004	0.0005	0.0005	0.0003	0.0003	0.0003	0	6.533e-05	0.0147	0	0	0.0034	0.0004	0.0014	0	0.223	0.18757	T	0.071	0.43531	T	0.461	0.36363	P	0.136	0.33270	B	0.000495	0.43931	D	0.230900	0.993053	0.41822	D	2.24	0.63355	M	.	.	.	-3.1	0.63554	D	0.492	0.52563	-0.7493	0.57972	T	0.181	0.52767	T	9	0.0077836215	0.00177	T	0.026252	0.49171	D	0.142	0.37995	.	.	0.607079148747	0.60392	0.8207463829069734	0.82031	0.434749923973	0.43605	.	.	.	0.314752	0.68641	T	-0.180417	0.23675	T	-0.168972	0.57538	T	0.442093282938004	0.30506	T	0.763824	0.39073	T	0.25898048	0.48949	0.36099914	0.61532	0.25898048	0.48949	0.36099914	0.61531	-8.469	0.64224	D	.	.	0.195	0.41602	B	.	.	3.554999	0.49998	22.9	0.85886972175312049	0.16175	0.96071	0.67401	D	AEFGBHCIJ	0.544703	0.55952	D	0.017719886886968	0.42660	2.574669	0.0581083538128608	0.42465	2.568987	0.99999999999978	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.621717	0.48901	0	.	.	4.9	4.9	0.63643	3.984000	0.56632	5.789000	0.49856	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.390000	0.26558	0.0:1.0:0.0:0.0	17.671	0.88120	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	556.98	34	chr2	218367740	.	C	T	556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-6.370e-01;SOR=0.738	GT:AD:DP:GQ:PL	0/1:21,19:40:99:571,0,540	20	0	1	0
chr2	219178513	219178513	C	G	exonic	RETREG2	.	nonsynonymous SNV	RETREG2:NM_024293:exon1:c.C161G:p.T54R,	.	.	387	1129	6	0	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.181	B	0.022	B	0.011	N	0.812	N	0.55	N	1.52	T	-1.065	T	0.038	T	0.438	1.972	12.55	3.28	0.685	0.810	5.818	0.063	.	.	0.00119808	0.0044	0.0034	0	0	0	0	0	0.0108	0.0002264	35	154602	rs556058840	0.0002	0.0003	0.0002	0.0003	0.0041	0.0002	0.0002	0.0037	0.0036	4.129e-05	0	0	0	2.932e-05	0.0005	2.68e-05	0.0004	0.0041	0.0002	0.0002	0.0001	0.0002	0.0042	0.0001	9.243e-05	0.0028	0.0023	0	0	0	0	0.0002	0	0	2.942e-05	0.0005	0.0042	0.022	0.48642	D	0.085	0.41074	T	0.181	0.29111	B	0.022	0.19653	B	0.010796	0.29783	N	0.311804	0.811917	0.28990	N	.	.	.	1.52	0.30669	T	-0.51	0.15986	N	0.286	0.32370	-1.0649	0.10572	T	0.038	0.16505	T	10	0.0051938593	0.00113	T	.	.	.	0.063	0.18251	0.464	0.53404	0.117191471859	0.11215	0.3117791947927422	0.31090	0.208122492365	0.23283	0.945761620998	0.99645	D	0.005132	0.04570	T	-0.460042	0.00983	T	-0.432779	0.29619	T	0.0543628626999794	0.06250	T	0.530047	0.17581	T	0.07831767	0.17829	0.11772964	0.28420	0.07831767	0.17828	0.11772964	0.28420	-1.647	0.02094	T	.	.	0.115	0.23113	B	.	.	2.520039	0.32562	19.08	0.92797263799539431	0.22319	0.94190	0.60386	D	ALL	0.198985	0.32581	N	-0.378774148038991	0.26227	1.429756	-0.24696250717891	0.29875	1.677426	0.999999999280449	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.581474	0.35302	0	.	.	4.19	3.28	0.36691	1.932000	0.39773	1.542000	0.27234	-0.309000	0.06099	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.2081:0.6907:0.0:0.1012	5.818	0.17768	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	372.98	35	chr2	219178513	.	C	G	372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.31;ReadPosRankSum=-2.429e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/1:34,17:51:99:387,0,780	20	0	1	0
chr2	236392065	236392065	C	T	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon10:c.G1201A:p.E401K	.	.	430	1090	1	1	0	3	0.00137426	.	.	3274834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.989	D	0.742	P	0.000	D	1.000	D	2.56	M	-3.82	D	1.034	D	0.914	D	0.786	5.299	34	5.45	2.550	3.227	17.081	0.791	0.248301215959	.	0.000199681	2.484e-05	0	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs531718193	6.159e-06	6.156e-06	1.362e-06	1.1e-05	3.478e-05	2.9e-06	2.1e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	4.498e-06	1.657e-05	3.478e-05	6.563e-06	6.561e-06	0	1.342e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.071	0.60972	T	0.931	0.51899	P	0.566	0.49756	P	0.000035	0.55875	D	0.000000	0.999866	0.50061	D	.	.	.	-3.84	0.95826	D	-3.12	0.63782	D	0.531	0.55972	1.034	0.97789	D	0.914	0.97147	D	10	0.43228185	0.57569	T	0.248301	0.89004	D	0.791	0.93108	0.43	0.47843	0.799318804817	0.79744	0.43483806764513905	0.43400	0.26906606016	0.29422	0.616847395897	0.55284	T	0.100519	0.40640	T	0.265277	0.80014	D	0.240129	0.85152	D	0.939521193504333	0.61105	D	0.930207	0.74183	D	0.434774	0.63064	0.35814106	0.61295	0.434774	0.63065	0.35814106	0.61295	-10.488	0.76778	D	.	.	0.158	0.38818	B	.;.;.	.;.;.	4.474945	0.69770	25.4	0.99890277745731437	0.96436	0.94083	0.60061	D	AEFBI	0.471470	0.51700	N	0.636983693576377	0.75527	6.322097	0.631230612236041	0.77221	6.637501	0.999996880180609	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.45	5.45	0.79688	3.852000	0.55642	4.722000	0.44510	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	17.081	0.86473	988	0.01987	.;.;.	.	.	.	.	.	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	763.98	34	chr2	236392065	.	C	T	763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.059;DP=804;ExcessHet=0.0000;FS=0.938;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.47;ReadPosRankSum=0.746;SOR=0.501	GT:AD:DP:GQ:PL	0/1:43,30:73:99:778,0,1243	20	0	1	0
chr2	237829503	237829503	G	A	splicing	RBM44	NM_001080504:exon13:c.2886+1G>A	.	.	.	.	432	1087	3	0	0	3	0.00137804	1.0000	0.74	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.049	9.283	4.37	2.138	4.264	12.802	.	.	.	.	8.693e-06	0	0	0	0	0	0	7.084e-05	6.5e-06	1	154602	rs752073129	2.064e-06	2.052e-06	1.368e-06	2.767e-06	2.356e-05	5.5e-07	1.5e-07	3.91e-06	1.46e-06	0	0	0	0	0	0	0	1.669e-05	2.356e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053832	0.58835	T	-0.057507	0.66506	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.937596	0.81456	27.6	0.98563371276581047	0.43012	0.88797	0.48900	D	AEFI	.	.	.	0.840581064304605	0.88565	9.626404	0.608889785560796	0.75585	6.336499	0.9460824412164	0.27690	0.078448	0.01964	0	0.097471	0.02872	0	0.060301	0.00762	0	0.057018	0.00518	0	0.942246	0.60427	4.37	4.37	0.51830	4.305000	0.58905	11.398000	0.92662	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.144000	0.20092	0.0:0.0:1.0:0.0	12.802	0.56974	982	0.03397	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	666.98	35	chr2	237829503	.	G	A	666.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.66;ReadPosRankSum=0.408;SOR=0.608	GT:AD:DP:GQ:PL	0/1:49,28:77:99:681,0,1298	20	0	1	0
chr2	240011654	240011654	C	T	exonic	NDUFA10	.	nonsynonymous SNV	NDUFA10:NM_001322019:exon6:c.G712A:p.E238K	Leigh syndrome, Autosomal recessive, Mitochondrial	.	0	1488	33	1	0	35	0.011624	.	.	142140	Leigh_syndrome|not_provided|Mitochondrial_complex_1_deficiency,_nuclear_type_22|not_specified|Mitochondrial_complex_I_deficiency,_nuclear_type_1	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506|MedGen:C3661900|MONDO:MONDO:0032626,MedGen:C4748796,OMIM:618243|MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	0.000	D	1.000	D	2.865	M	-3.37	D	0.909	D	0.939	D	0.902	4.882	28.0	4.22	2.089	6.313	14.478	0.944	.	0.0054	0.00279553	0.0054	0.0002	0.0090	0.0001	0.0009	0.0070	0.0055	0.0039	0.0055562	859	154602	rs35462421	0.0064	0.0065	0.0064	0.0064	0.0089	0.0063	0.0063	0.0082	0.0079	0.0007	0.0089	0.0049	2.519e-05	0.0013	0.0078	0.0071	0.0075	0.0042	0.0057	0.0057	0.0061	0.0053	0.0094	0.0054	0.0053	0.0084	0.0081	0.0013	0	0.0094	0.0046	0	0.0003	0.0068	0.0090	0.0085	0.0046	0.004	0.68238	D	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	3.255	0.89877	M	-4.65	0.97938	D	-3.44	0.71997	D	0.85	0.85132	0.909	0.95808	D	0.939	0.97992	D	10	0.015003979	0.00339	T	.	.	.	0.944	0.98851	.	.	0.998418483434	0.99840	0.686272988779664	0.68567	0.675064112378	0.59680	0.497707843781	0.38508	T	0.635256	0.88747	D	0.201883	0.74068	D	0.524463	0.95107	D	0.0317793008590996	0.02271	T	.	.	.	0.8467275	0.87094	0.7498531	0.85214	0.8685694	0.88750	0.7033316	0.82516	-11.085	0.80122	D	0.7238999482498457	0.80517	0.933	0.85307	P	.;.;.;.;.;.	.;.;.;.;.;.	5.074703	0.84663	28.4	0.99931280116912635	0.99387	0.95946	0.66841	D	AEFDBCI	0.680303	0.64404	D	0.777496287506538	0.84680	8.355947	0.687277347417095	0.81413	7.520644	0.999999990447188	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	6.516000	0.73665	7.141000	0.57652	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	14.478	0.67141	970	0.06235	.;Deoxynucleoside kinase domain;Deoxynucleoside kinase domain;Deoxynucleoside kinase 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	959.98	34	chr2	240011654	.	C	T	959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.614e+00;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.97;ReadPosRankSum=0.227;SOR=0.743	GT:AD:DP:GQ:PL	0/1:62,45:107:99:974,0,1623	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	0/1:53,49,0:104:99:.:.:1810,0,1960,1971,2144,4199	5	7	8	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	0/2:18,9,16:45:99:368,107,594,0,148,263	0	0	1	0
chr3	9706053	9706053	C	T	exonic	CPNE9	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	3.870	19.66	1.32	-0.167	1.236	15.131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1020442573	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.577e-06	6.568e-06	1.286e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000057	0.53742	D	0.068440	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.334	0.37820	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.489422	0.93981	D	0.465245	0.93904	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	7.320346	0.96393	36	0.92335944669080161	0.21733	0.79742	0.39574	D	AEFDBI	0.271005	0.38695	N	-0.125872344584525	0.36269	2.094117	-0.366136187097601	0.26015	1.434237	0.0783981018663456	0.15787	0.623552	0.39893	0	0.547309	0.14657	0	0.667671	0.60360	0	0.530356	0.10902	0	.	.	4.28	1.32	0.20897	1.235000	0.32274	0.190000	0.15733	-0.889000	0.02397	0.992000	0.37556	0.950000	0.28999	0.725000	0.34934	0.5712:0.4288:0.0:0.0	15.131	0.72200	702	0.57624	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	435.98	34	chr3	9706053	.	C	T	435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.777;DP=764;ExcessHet=0.0000;FS=2.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.92;ReadPosRankSum=2.49;SOR=0.373	GT:AD:DP:GQ:PL	0/1:42,21:63:99:450,0,983	20	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.0	B	0.003	N	0.870	D	0.69	N	-3.18	D	0.217	D	0.665	D	0.329	3.392	17.45	5.31	2.493	4.693	18.577	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	6188.68	230	chr3	15003967	.	C	G	6188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.434e+00;DP=4026;ExcessHet=9.6308;FS=254.962;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=2.20;ReadPosRankSum=2.28;SOR=13.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:166,62:228:99:.:.:404,0,4229	8	0	12	1
chr3	33051775	33051775	T	C	exonic	GLB1	.	nonsynonymous SNV	GLB1:NM_001135602:exon6:c.A545G:p.N182S	GM1-gangliosidosis, type I, Autosomal recessive;GM1-gangliosidosis, type II, Autosomal recessive;GM1-gangliosidosis, type III, Autosomal recessive;Mucopolysaccharidosis type IVB (Morquio), Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1881717	GM1_gangliosidosis|Mucopolysaccharidosis,_MPS-IV-B	MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.957	D	0.000	D	1.000	D	2.065	M	-5.24	D	1.099	D	0.960	D	0.235	4.726	26.3	5.71	2.172	7.581	15.650	0.837	0.238503213061	.	.	8.317e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs781080459	1.368e-06	1.368e-06	0	2.75e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.42199	D	0.046	0.53426	D	0.999	0.77913	D	0.957	0.69900	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-5.24	0.98905	D	-4.25	0.79316	D	0.934	0.93959	1.099	0.99607	D	0.960	0.98707	D	10	0.9799812	0.97948	D	0.238503	0.88590	D	0.837	0.94877	0.947	0.99346	0.997450325136	0.99742	0.9297148710068579	0.92949	0.472138376322	0.46452	0.577498972416	0.49734	T	0.709504	0.91702	D	0.161464	0.70337	D	-0.00584422	0.69957	D	0.956986546516418	0.64895	D	0.952005	0.94289	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.27732	B	.;.;.;.	.;.;.;.	4.197151	0.63305	24.6	0.9986227672858532	0.94093	0.99190	0.92559	D	AEFBI	0.955592	0.97354	D	0.755680592968838	0.83276	7.974788	0.752951828765005	0.86377	8.869797	0.999999999996419	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.71	5.71	0.89031	7.629000	0.82391	7.918000	0.74374	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.650	0.76836	762	0.50290	.;.;Glycoside hydrolase 35, catalytic domain;Glycoside hydrolase 35, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1361.98	42	chr3	33051775	.	T	C	1361.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.420e-01;DP=856;ExcessHet=0.0000;FS=0.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-1.298e+00;SOR=0.822	GT:AD:DP:GQ:PL	0/1:58,57:115:99:1376,0,1391	20	0	1	0
chr3	38274346	38274350	CACCC	-	exonic	SLC22A13	.	frameshift deletion	SLC22A13:NM_004256:exon2:c.453_457del:p.T152Hfs*36,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	707.36	39	chr3	38274345	.	GCACCC	G,GC	707.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-2.454e+00;DP=1432;ExcessHet=0.3300;FS=115.223;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.95;ReadPosRankSum=2.80;SOR=9.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:179,0,33:212:99:0|1:38274345_GCACC_G:362,897,7945,0,7048,6953:38274345	18	0	1	0
chr3	38274347	38274350	ACCC	-	exonic	SLC22A13	.	frameshift deletion	SLC22A13:NM_004256:exon2:c.454_457del:p.T152Sfs*61,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	707.36	39	chr3	38274345	.	GCACCC	G,GC	707.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-2.454e+00;DP=1432;ExcessHet=0.3300;FS=115.223;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.95;ReadPosRankSum=2.80;SOR=9.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:179,0,33:212:99:0|1:38274345_GCACC_G:362,897,7945,0,7048,6953:38274345	18	0	1	0
chr3	38274349	38274349	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	524.24	39	chr3	38274349	.	C	*,CTGGG	524.24	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-8.390e-01;DP=1626;ExcessHet=0.3300;FS=132.304;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=2.74;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:179,0,32:211:99:0|1:38274345_GCACC_G:337,872,7920,0,7048,6956:38274345	18	0	1	0
chr3	38274349	38274349	-	TGGG	exonic	SLC22A13	.	frameshift insertion	SLC22A13:NM_004256:exon2:c.456_457insTGGG:p.L153Wfs*38,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	524.24	39	chr3	38274349	.	C	*,CTGGG	524.24	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-8.390e-01;DP=1626;ExcessHet=0.3300;FS=132.304;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=2.74;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:179,0,32:211:99:0|1:38274345_GCACC_G:337,872,7920,0,7048,6956:38274345	18	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	2/2:0,0,30,0,0,0,0:51:74:1351,1336,1339,74,84,0,1336,1339,84,1339,1336,1339,84,1339,1339,1336,1339,84,1339,1339,1339,1336,1339,84,1339,1339,1339,1339	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	2/2:0,0,30,0,0,0,0:51:74:1351,1336,1339,74,84,0,1336,1339,84,1339,1336,1339,84,1339,1339,1336,1339,84,1339,1339,1339,1336,1339,84,1339,1339,1339,1339	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	2/2:0,0,30,0,0,0,0:51:74:1351,1336,1339,74,84,0,1336,1339,84,1339,1336,1339,84,1339,1339,1336,1339,84,1339,1339,1339,1336,1339,84,1339,1339,1339,1339	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	2/2:0,0,30,0,0,0,0:51:74:1351,1336,1339,74,84,0,1336,1339,84,1339,1336,1339,84,1339,1339,1336,1339,84,1339,1339,1339,1336,1339,84,1339,1339,1339,1339	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	2/2:0,0,30,0,0,0,0:51:74:1351,1336,1339,74,84,0,1336,1339,84,1339,1336,1339,84,1339,1339,1336,1339,84,1339,1339,1339,1336,1339,84,1339,1339,1339,1339	1	2	2	0
chr3	42210088	42210088	-	GGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGA:p.E624_G625insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	2/2:0,2,64,0,0:66:99:2808,2758,3016,190,125,0,2837,2903,209,2960,2837,2903,209,2960,2960	1	3	1	0
chr3	42210088	42210088	-	GGAGGAGGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGAGGAGGA:p.E624_G625insEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	2/2:0,2,64,0,0:66:99:2808,2758,3016,190,125,0,2837,2903,209,2960,2837,2903,209,2960,2960	1	3	1	0
chr3	42210088	42210088	-	GGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGA:p.E624_G625insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	2/2:0,2,64,0,0:66:99:2808,2758,3016,190,125,0,2837,2903,209,2960,2837,2903,209,2960,2960	1	3	1	0
chr3	42397291	42397291	G	A	exonic	LYZL4	.	nonsynonymous SNV	LYZL4:NM_001304386:exon5:c.C415T:p.R139W	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.973	D	0.389	N	0.780	N	2.175	M	0.86	T	-0.700	T	0.256	T	0.589	2.217	13.37	2.89	1.332	0.340	9.423	0.179	.	0.0002	0.00159744	0.0031	0.0006	0.0016	0	0	0.0003	0	0.0102	0.0009056	140	154602	rs138004276	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	9.279e-05	0.0001	0	8.123e-05	0	0.0028	5.415e-05	0.0005	0.0095	0.0003	0.0003	0.0002	0.0004	0.0071	0.0003	0.0002	0.0052	0.0045	0.0002	0	6.538e-05	0	0	9.429e-05	0	8.82e-05	0.0005	0.0071	0.01	0.56456	D	0.027	0.55341	D	1.0	0.90584	D	0.973	0.72923	D	0.389053	0.13282	N	0.592403	0.77996	0.29344	N	2.87	0.83286	M	0.86	0.46777	T	-2.68	0.57275	D	0.715	0.71765	-0.6997	0.60453	T	0.256	0.62597	T	10	0.013158828	0.00280	T	.	.	.	0.179	0.44899	.	.	0.634904748024	0.63190	0.7144575453191662	0.71388	0.847429405182	0.68384	0.530724227428	0.43136	T	0.092617	0.39041	T	-0.393943	0.02536	T	-0.331684	0.41283	T	0.110055275520833	0.13429	T	0.724828	0.33863	T	0.07667175	0.17355	0.08060356	0.18247	0.07667175	0.17355	0.08060356	0.18247	-5.462	0.41511	T	.	.	0.289	0.52119	B	.;.	.;.	3.219503	0.43859	21.8	0.99827369673458943	0.90939	0.24294	0.22348	N	AEFDBI	0.194999	0.32205	N	0.17852302297527	0.50170	3.20952	0.0242087600576607	0.40842	2.443923	0.990863900237671	0.32294	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.9	2.89	0.32713	0.348000	0.19784	1.736000	0.28364	0.665000	0.62972	0.333000	0.25615	0.505000	0.25225	0.039000	0.14166	0.0:0.0:0.6126:0.3874	9.423	0.37724	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	858.98	34	chr3	42397291	.	G	A	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=-3.440e-01;SOR=0.705	GT:AD:DP:GQ:PL	0/1:45,35:80:99:873,0,1030	20	0	1	0
chr3	42637080	42637080	T	C	exonic	NKTR	.	nonsynonymous SNV	NKTR:NM_001349124:exon13:c.T1376C:p.I459T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.0	B	0.798	N	1.000	N	0.205	N	2.82	T	-0.953	T	0.016	T	0.028	-0.710	0.941	2.02	0.421	1.841	4.631	0.044	0.00289098595567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.578	0.10281	T	0.0	0.02946	B	0.0	0.01387	B	0.797903	0.06751	N	1.091020	1	0.08975	N	1.04	0.26193	L	2.82	0.10871	T	0.32	0.03955	N	0.026	0.02088	-0.9533	0.40398	T	0.016	0.06616	T	10	0.051080167	0.04936	T	0.002891	0.06104	T	0.044	0.11924	0.318	0.29581	0.043077524339	0.03247	0.044061209714319066	0.04350	0.182636527527	0.20529	0.440671503544	0.30668	T	0.018833	0.15112	T	-0.349114	0.04783	T	-0.739254	0.03922	T	0.0993457169052594	0.12285	T	0.60154	0.22486	T	0.048046563	0.08311	0.053824186	0.09140	0.048046563	0.08310	0.053824186	0.09139	-2.846	0.08615	T	.	.	0.110	0.21353	B	.;.	.;.	0.768406	0.11385	7.997	0.58603708594918114	0.06031	0.07460	0.13477	N	AEFBI	0.063228	0.12207	N	-1.06058826062295	0.07381	0.3427204	-1.01715573256436	0.09408	0.4679015	0.99988424441403	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	2.02	0.25641	1.865000	0.39117	0.525000	0.19198	-0.120000	0.14102	0.006000	0.17386	0.000000	0.08366	0.227000	0.22653	0.0:0.2847:0.1586:0.5567	4.631	0.11886	441	0.80015	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	133.46	34	chr3	42637080	.	T	C	133.46	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.152e+00;DP=973;ExcessHet=0.1072;FS=321.100;InbreedingCoeff=-0.0588;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=-5.960e-01;SOR=8.885	GT:AD:DP:GQ:PL	0/1:50,18:68:71:71,0,902	19	0	2	0
chr3	43081193	43081193	C	T	exonic	POMGNT2	.	nonsynonymous SNV	POMGNT2:NM_032806:exon2:c.G239A:p.R80H,	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	428186	not_specified|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_8|not_provided	MedGen:CN169374|MONDO:MONDO:0013904,MedGen:C3553813,OMIM:614830,Orphanet:899|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.26	T	1.0	D	0.994	D	0.000	D	1.000	D	1.4	L	-1.13	T	-0.098	T	0.543	D	0.846	2.685	14.94	5.75	2.714	4.080	18.930	0.523	0.0683729784988	7.7e-05	0.00219649	0.0016	0	0.0010	0	0	0.0003	0.0011	0.0095	0.0013971	216	154602	rs146511234	0.0010	0.0010	0.0007	0.0014	0.0102	0.0010	0.0009	0.0096	0.0094	8.961e-05	0.0004	0.0009	0	0	0.0017	0.0004	0.0010	0.0102	0.0007	0.0007	0.0006	0.0008	0.0097	0.0006	0.0005	0.0075	0.0067	9.62e-05	0	0.0008	0.0012	0	0	0.0068	0.0005	0.0005	0.0097	0.245	0.17410	T	0.096	0.39340	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.245	0.31408	L	-1.13	0.77719	T	-0.83	0.22727	N	0.294	0.33250	-0.0975	0.80155	T	0.543	0.83199	D	10	0.013193697	0.00281	T	0.068373	0.70432	D	0.523	0.79765	.	.	0.810970745285	0.80919	0.6337372634800732	0.63307	0.324009235068	0.34560	0.549831688404	0.45834	T	0.022684	0.17449	T	-0.0681046	0.41629	T	0.137215	0.79364	D	0.0292454005402922	0.01874	T	0.908709	0.67605	D	0.17236485	0.37923	0.13219658	0.31728	0.17561443	0.38429	0.14412016	0.34226	-4.199	0.26737	T	0.08799753225949004	0.05229	0.091	0.13550	B	.;.	.;.	3.263657	0.44646	22.0	0.99584584847473789	0.73218	0.96685	0.70394	D	AEFDBI	0.723811	0.67331	D	0.615708035024157	0.74167	6.086976	0.640756827587087	0.77925	6.773946	0.999999999981156	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.75	5.75	0.90390	4.149000	0.57864	4.841000	0.45285	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.930	0.92535	688	0.59122	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1570.98	38	chr3	43081193	.	C	T	1570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=958;ExcessHet=0.0000;FS=0.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-5.710e-01;SOR=0.601	GT:AD:DP:GQ:PL	0/1:69,60:129:99:1585,0,1709	20	0	1	0
chr3	46709586	46709586	-	AAG	exonic	TMIE	.	nonframeshift insertion	TMIE:NM_001370524:exon4:c.210_211insAAG:p.K78_D79insK	Deafness, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	36052.73	62	chr3	46709583	.	TAAG	T,TAAGAAG	36052.73	.	AC=25,1;AF=0.595,0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1535;ExcessHet=4.5793;FS=0.569;InbreedingCoeff=-0.2115;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;MQRankSum=0.00;QD=28.75;ReadPosRankSum=0.200;SOR=0.670	GT:AD:DP:GQ:PL	0/1:27,29,0:56:99:1060,0,1034,1141,1121,2262	2	7	11	0
chr3	47867325	47867325	G	A	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001384817:exon11:c.C1403T:p.S468F	.	.	428	1074	17	3	0	23	0.0105942	.	.	3210110	MAP4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	N	1.585	L	-3.48	D	0.339	D	0.820	D	0.512	3.805	19.32	4.29	2.413	4.121	12.216	0.672	0.295561311245	0.0032	0.00179712	0.0031	0.0009	0.0029	0	0.0006	0.0045	0.0033	0.0019	0.0032276	499	154602	rs150907099	0.0045	0.0045	0.0044	0.0045	0.0053	0.0044	0.0043	0.0052	0.0052	0.0006	0.0031	0.0007	2.519e-05	0.0004	0.0031	0.0053	0.0045	0.0016	0.0034	0.0034	0.0033	0.0035	0.0054	0.0032	0.0031	0.0048	0.0046	0.0010	0.0143	0.0054	0.0006	0.0002	0.0004	0	0.0052	0.0052	0.0019	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	1.665	0.42610	L	-3.48	0.94584	D	-4.37	0.79482	D	0.484	0.69825	0.339	0.88170	D	0.820	0.93952	D	9	0.011303484	0.00248	T	0.295561	0.90710	D	0.672	0.87868	.	.	0.616639467345	0.61354	0.6311990139498651	0.63053	0.517218207095	0.49593	0.640708565712	0.58665	T	0.739265	0.93866	D	-0.126497	0.32064	T	0.052058	0.73719	D	0.0389167667814701	0.03495	T	0.972478	0.90093	D	0.48620215	0.66275	0.563218	0.74723	0.48620215	0.66276	0.563218	0.74724	-14.682	0.96504	D	.	.	0.796	0.80786	P	.;.;.;.;.	.;.;.;.;.	5.382233	0.90195	31	0.99838993567598544	0.91972	0.95999	0.67077	D	AEFBI	0.497048	0.53173	N	0.622024777006955	0.74568	6.155068	0.603569509033206	0.75198	6.268456	0.999941365784735	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.18	4.29	0.50359	4.186000	0.58135	9.893000	0.82289	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0817:0.0:0.9183:0.0	12.216	0.53716	9	0.99126	.;.;.;.;.	.	.	.	.	.	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	599.98	33	chr3	47867325	.	G	A	599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=776;ExcessHet=0.0000;FS=3.270;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.69;ReadPosRankSum=-4.030e-01;SOR=1.123	GT:AD:DP:GQ:PL	0/1:52,26:78:99:614,0,1302	20	0	1	0
chr3	48460226	48460226	G	A	exonic	ATRIP	.	nonsynonymous SNV	ATRIP:NM_001271023:exon8:c.G893A:p.R298Q	.	.	431	1086	5	0	0	5	0.00229674	.	.	734117	not_provided|ATRIP-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.996	D	0.000	D	0.779	N	1.52	L	1.55	T	-0.853	T	0.186	T	0.646	3.818	19.39	4.92	2.767	4.484	11.297	0.133	0.0316245628926	0.0005	0.000599042	0.0008	0	0.0003	0	0.0003	0.0003	0	0.0039	0.000705	109	154602	rs142899473	0.0005	0.0005	0.0004	0.0007	0.0043	0.0005	0.0005	0.0039	0.0038	8.961e-05	0.0002	0	0	0.0001	0.0016	0.0003	0.0007	0.0043	0.0004	0.0004	0.0003	0.0006	0.0046	0.0003	0.0003	0.0031	0.0026	7.215e-05	0	6.539e-05	0	0	0.0002	0	0.0005	0.0005	0.0046	0.393	0.37750	T	0.039	0.51421	D	1.0	0.90584	D	0.996	0.84481	D	0.000070	0.52346	D	0.195617	0.778644	0.29357	N	2.77	0.80896	M	0.97	0.42502	T	-0.81	0.24026	N	0.327	0.41360	-0.8530	0.51760	T	0.186	0.53556	T	9	0.009278595	0.00210	T	0.031625	0.53663	D	0.133	0.36157	.	.	0.423360453849	0.41956	0.2351661102112964	0.23431	0.928783125732	0.71741	0.290582060814	0.09006	T	0.078342	0.35868	T	-0.31884	0.06992	T	-0.230912	0.51684	T	0.118749482938802	0.14308	T	0.914708	0.70532	D	0.067357965	0.14579	0.076467335	0.16938	0.067357965	0.14578	0.076467335	0.16938	-2.923	0.09600	T	.	.	0.113	0.22245	B	.;.;.;.	.;.;.;.	5.019412	0.83409	28.0	0.999461364681548	0.99901	0.93534	0.58479	D	AEFBI	0.625718	0.60881	D	0.589722624014539	0.72534	5.820651	0.581147360748954	0.73589	5.995233	0.999885969783384	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.85	4.92	0.64147	4.847000	0.62565	9.733000	0.81406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.808000	0.38083	0.0:0.0:0.7111:0.2889	11.297	0.48518	13	0.98894	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1676.98	34	chr3	48460226	.	G	A	1676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.340e-01;DP=888;ExcessHet=0.0000;FS=0.614;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-7.410e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:81,70:151:99:1691,0,1970	20	0	1	0
chr3	48662268	48662268	G	C	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon1:c.C367G:p.R123G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.001	B	0.001	B	.	.	1.000	N	0	N	-0.54	T	-0.960	T	0.146	T	0.119	0.211	5.135	-1.19	-0.091	0.539	9.003	0.183	0.0516227902453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.082	0.41573	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-0.55	0.71068	T	-0.9	0.24244	N	0.108	0.09349	-0.9598	0.39218	T	0.146	0.47056	T	9	0.066880584	0.09238	T	0.051623	0.64738	D	0.183	0.45592	0.168	0.07302	0.421714571039	0.41790	0.1670929949419266	0.16629	0.985944068956	0.73906	0.25840601325	0.04703	T	0.199837	0.55723	T	-0.176212	0.24302	T	-0.490893	0.23298	T	0.0539714429026635	0.06184	T	0.770923	0.40135	T	0.11712007	0.27615	0.19552003	0.43233	0.11712007	0.27615	0.19552003	0.43232	-3.27	0.13353	T	.	.	0.060	0.00979	B	.	.	1.653640	0.21093	15.05	0.95445407176075014	0.26957	0.02760	0.07451	N	AEFDGBHCI	0.119171	0.23271	N	-1.03029946650001	0.07980	0.3725731	-1.04934925088641	0.08720	0.4301531	0.999999749920934	0.74766	0.766844	0.99359	0	0.606814	0.50340	0	0.851219	0.99655	0	0.63947	0.58350	0	.	.	4.68	-1.19	0.09091	0.259000	0.18174	1.286000	0.25382	0.672000	0.70159	0.001000	0.13787	0.001000	0.17328	0.323000	0.25040	0.0:0.2372:0.2791:0.4837	9.003	0.35254	3	0.99430	.	.	.	.	.	.	Uncertain significance	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	2474.98	33	chr3	48662268	.	G	C	2474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=920;ExcessHet=0.0000;FS=4.134;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-3.380e-01;SOR=0.844	GT:AD:DP:GQ:PL	0/1:92,100:192:99:2489,0,2078	20	0	1	0
chr3	48694930	48694930	T	C	exonic	IP6K2	.	nonsynonymous SNV	IP6K2:NM_001190316:exon3:c.A527G:p.H176R	.	.	390	1126	6	0	0	6	0.00265722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.011	B	0.025	B	.	.	1.000	D	0	N	0.77	T	-1.082	T	0.063	T	0.119	0.785	8.142	3.3	1.048	0.536	6.622	0.057	0.0126109212999	.	0.000199681	0.0016	0	0	0	0	0.0002	0	0.0038	0.0002652	41	154602	rs200668427	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0	0	0.0012	4.888e-05	0.0003	0.0032	0.0002	0.0002	0.0002	0.0002	0.0035	0.0001	0.0001	0.0022	0.0018	9.625e-05	0	6.534e-05	0	0	0	0	8.822e-05	0	0.0035	0.0	0.91255	D	0.073	0.43531	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.66	0.52416	T	-0.26	0.11185	N	0.131	0.29197	-1.0820	0.06965	T	0.063	0.26244	T	9	0.0056069493	0.00124	T	0.012611	0.31334	T	0.057	0.16321	0.088	0.00943	0.138757226776	0.13463	.	.	.	.	.	.	.	.	.	.	-0.479594	0.00743	T	-0.465044	0.26053	T	0.104573277152844	0.12852	T	0.378962	0.09121	T	.	.	.	.	.	.	.	.	-2.934	0.09967	T	.	.	0.157	0.40213	B	.;.;.;.;.;.	.;.;.;.;.;.	2.112772	0.26887	17.27	0.98038988957422435	0.37774	0.76133	0.37317	D	ALL	0.273553	0.38893	N	-0.545773530887192	0.20616	1.08812	-0.40201580517333	0.24937	1.368489	0.999999999952624	0.74766	0.730579	0.87903	0	0.577304	0.33150	0	0.749866	0.98131	0	0.654926	0.60358	0	.	.	4.46	3.3	0.36912	0.975000	0.29046	3.552000	0.39052	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.0:0.1054:0.0:0.8946	6.622	0.22004	2	0.99499	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1600.98	38	chr3	48694930	.	T	C	1600.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.078e+00;DP=855;ExcessHet=0.0000;FS=2.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.54;ReadPosRankSum=-9.740e-01;SOR=0.484	GT:AD:DP:GQ:PL	0/1:41,62:103:99:1615,0,1006	20	0	1	0
chr3	49115902	49115902	G	A	exonic	USP19	.	nonsynonymous SNV	USP19:NM_001351102:exon10:c.C1166T:p.T389I	.	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.971	D	0.742	P	0.000	D	1.000	D	1.5	L	2.17	T	-0.983	T	0.157	T	0.404	4.253	22.2	6.17	2.941	9.319	20.474	0.168	0.00880763665752	0.0002	0.000199681	0.0003	0	0	0	0	1.546e-05	0	0.0027	0.0002458	38	154602	rs199766552	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	0	0	0	0	0	0.0011	4.115e-05	0.0002	0.0025	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	9.24e-05	0.0016	0.0013	9.63e-05	0	6.539e-05	0	0	0	0	8.825e-05	0	0.0027	0.002	0.72154	D	0.01	0.69154	D	0.971	0.57185	D	0.724	0.55036	P	0.000292	0.46274	D	0.253749	0.999971	0.58761	D	0.695	0.17993	N	2.04	0.38073	T	-1.88	0.49846	N	0.53	0.58117	-0.9830	0.34305	T	0.157	0.48993	T	10	0.023425221	0.00612	T	0.008808	0.23245	T	0.168	0.42943	.	.	0.143184338766	0.13958	0.25448269893987546	0.25362	0.509059477772	0.49044	0.639447689056	0.58486	T	0.030859	0.22997	T	-0.358208	0.04232	T	-0.293794	0.45376	T	0.18055938799829	0.19270	T	0.941106	0.78031	D	0.13090499	0.30530	0.29620686	0.55652	0.13090499	0.30530	0.29620686	0.55651	-4.558	0.32347	T	.	.	0.161	0.51068	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.341309	0.66608	25.0	0.99881598818765638	0.95733	0.99571	0.97563	D	AEFDBI	0.884881	0.81493	D	0.74976070804033	0.82890	7.875722	0.82153586737776	0.91250	10.79215	0.99999999999995	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.446000	0.96756	11.856000	0.98202	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.474	0.99171	0	0.99858	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2697.98	34	chr3	49115902	.	G	A	2697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.45;DP=908;ExcessHet=0.0000;FS=0.529;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=-7.000e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/1:95,99:194:99:2712,0,2334	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	0/1:31,39,0:70:99:1546,0,1183,1639,1302,2941	0	4	6	0
chr3	49685734	49685734	T	G	splicing	MST1	NM_020998:exon11:c.1251-2A>C	.	.	.	.	396	1048	78	0	0	78	0.0358786	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.161	13.18	4.06	0.825	2.394	5.690	.	.	.	.	0.0033	0.0022	0.0048	0.0020	0.0040	0.0032	0.0022	0.0038	0.0011902	184	154602	rs9714011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0312953	0.47230	T	-0.28273	0.46524	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.318552	0.66070	24.9	0.82760893892845555	0.14361	0.84942	0.44038	D	AEFDBCI	.	.	.	0.550271141106862	0.70098	5.451985	0.329790380301468	0.57298	3.894969	0.999999223157914	0.74766	0.199473	0.04044	0	0.09434	0.02614	0	0.215285	0.04585	0	0.109499	0.03221	0	0.244363	0.32384	5.22	4.06	0.46572	2.893000	0.48331	7.791000	0.68894	-0.114000	0.14653	0.998000	0.41325	1.000000	0.68203	0.017000	0.10941	0.1492:0.0819:0.0:0.7689	5.690	0.17097	1	0.99630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	253.15	61	chr3	49685734	.	T	G	253.15	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.840e-01;DP=1598;ExcessHet=0.1072;FS=18.777;InbreedingCoeff=-0.0516;MLEAC=2;MLEAF=0.048;MQ=58.46;MQRankSum=-1.625e+01;QD=0.42;ReadPosRankSum=-2.929e+00;SOR=2.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,22:288:83:0|1:49685734_T_G:83,0,10867:49685734	19	0	2	0
chr3	49903228	49903228	C	T	exonic	MST1R	.	nonsynonymous SNV	MST1R:NM_001244937:exon1:c.G382A:p.A128T	.	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.979	D	0.459	P	0.823	N	1.000	N	1.5	L	2.86	T	-1.056	T	0.031	T	0.223	0.514	6.784	4.02	2.282	0.453	10.363	0.111	0.00981177451762	.	.	8.465e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs769845082	3.436e-06	4.104e-06	4.104e-06	2.762e-06	1.159e-05	1.01e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.314e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.11156	T	0.39	0.32355	T	0.917	0.50750	P	0.18	0.35854	B	0.823413	0.09161	N	0.926907	1	0.08975	N	1.54	0.38927	L	2.86	0.10482	T	-0.91	0.27669	N	0.134	0.19325	-1.0561	0.12750	T	0.031	0.13242	T	10	0.0857507	0.14508	T	0.009812	0.25586	T	0.111	0.31313	0.318	0.29581	0.270889551736	0.26708	0.3988196515856671	0.39796	0.312029139703	0.33506	0.320726573467	0.13531	T	0.050043	0.28480	T	-0.342505	0.05217	T	-0.629131	0.10480	T	0.228234186768532	0.21867	T	0.877212	0.60027	D	0.15953326	0.35832	0.19206059	0.42700	0.15953326	0.35831	0.19206059	0.42699	-4.58	0.32372	T	.	.	0.085	0.17402	B	.;.;.;.	.;.;.;.	1.978371	0.25134	16.65	0.95796381212897763	0.27844	0.17317	0.19784	N	AEFDGBHCI	0.188299	0.31557	N	-0.292953244059772	0.29419	1.631291	-0.388290375777704	0.25345	1.39325	0.999999951714329	0.74766	0.56387	0.32371	0	0.541556	0.11502	0	0.503968	0.08637	0	0.562822	0.20929	0	.	.	4.96	4.02	0.45968	0.535000	0.22822	3.208000	0.36786	0.599000	0.40250	0.000000	0.06391	0.149000	0.23162	0.972000	0.54974	0.2335:0.6435:0.123:0.0	10.363	0.43191	1	0.99630	Sema domain|Sema domain|Sema domain|RON, Sema domain;Sema domain|Sema domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2107.98	35	chr3	49903228	.	C	T	2107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.788;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.17;ReadPosRankSum=0.467;SOR=0.721	GT:AD:DP:GQ:PL	0/1:65,74:139:99:2122,0,1682	20	0	1	0
chr3	50289579	50289579	T	C	exonic	IFRD2	.	nonsynonymous SNV	IFRD2:NM_006764:exon7:c.A647G:p.Y216C,	.	.	429	1072	20	1	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.026	B	0.022	B	0.001	N	0.999	D	1.195	L	-0.12	T	-0.969	T	0.116	T	0.169	-0.182	3.116	2.51	0.621	2.122	8.777	0.138	.	0.0049	0.00239617	0.0071	0.0013	0.0050	0.0004	0.0014	0.0105	0.0078	0.0045	0.0036998	572	154602	rs34364099	0.0058	0.0058	0.0058	0.0059	0.0065	0.0057	0.0057	0.0064	0.0064	0.0008	0.0023	0.0098	7.847e-05	0.0007	0.0064	0.0065	0.0060	0.0045	0.0043	0.0043	0.0045	0.0042	0.0062	0.0041	0.0040	0.0057	0.0055	0.0011	0.0768	0.0029	0.0104	0.0002	0.0007	0.0034	0.0062	0.0047	0.0044	0.183	0.21718	T	0.095	0.39492	T	0.008	0.14655	B	0.009	0.14300	B	0.000747	0.42006	N	0.283664	0.998617	0.45166	D	0.335	0.10427	N	-0.12	0.64630	T	-4.4	0.77308	D	0.11	0.09772	-0.9694	0.37324	T	0.116	0.40942	T	10	0.0038838685	0.00074	T	.	.	.	0.138	0.37187	.	.	0.695661859615	0.69303	0.12998815443157535	0.12923	.	.	0.331011980772	0.15088	T	0.197609	0.55434	T	-0.46194	0.00956	T	-0.432176	0.29688	T	0.0182960750494103	0.00548	T	0.715628	0.32820	T	0.20409873	0.42509	0.18446688	0.41501	0.20409873	0.42509	0.18446688	0.41500	-6.108	0.47174	T	.	.	0.047	0.00109	B	.;.	.;.	1.218396	0.16123	12.33	0.57756060330256087	0.05840	0.36228	0.25485	N	AEFBCI	0.083179	0.16849	N	-0.708489046188582	0.15783	0.7984209	-0.660277316162749	0.17958	0.957195	0.999834550519059	0.43792	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	2.51	0.29435	2.062000	0.41039	0.720000	0.21004	-0.218000	0.08083	0.953000	0.33222	0.168000	0.23319	0.198000	0.21837	0.0:0.7363:0.0:0.2637	8.777	0.33924	3	0.99430	Interferon-related developmental regulator, N-terminal;Interferon-related developmental regulator, N-terminal	.	.	.	.	rs34364099	Uncertain significance	0	0	0	0	0	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	1695.98	40	chr3	50289579	.	T	C	1695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.484;DP=867;ExcessHet=0.0000;FS=1.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=-1.216e+00;SOR=0.790	GT:AD:DP:GQ:PL	0/1:83,70:153:99:1710,0,2094	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	0/2:10,0,7:17:99:264,294,705,0,410,389	5	0	8	1
chr3	58163173	58163173	C	A	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164319:exon42:c.C6969A:p.F2323L	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	291363	FLNB-Related_Spectrum_Disorders|not_provided	MedGen:CN239400|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.989	D	0.827	P	0.000	D	1.000	D	3.64	H	-2.92	D	0.836	D	0.867	D	0.875	2.078	12.91	2.62	0.776	2.178	9.118	0.819	0.619735841105	0.0004	0.000399361	0.0006	0	0.0005	0.0001	0.0002	0.0008	0	0.0007	0.0005563	86	154602	rs139325959	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0004	0.0005	0.0005	2.987e-05	0.0005	0	0	0.0002	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0005	0.0005	4.81e-05	0	0.0003	0	0	0	0	0.0007	0.0009	0.0008	0.009	0.72154	D	0.002	0.79402	D	0.343	0.35524	B	0.457	0.46994	P	0.000000	0.84330	D	0.085942	0.999964	0.81001	D	4	0.96753	H	-2.92	0.91748	D	-5.23	0.83899	D	0.795	0.86191	0.836	0.94850	D	0.867	0.95570	D	10	0.544053	0.63882	D	0.619736	0.96704	D	0.819	0.94200	0.878	0.96734	0.907146702657	0.90621	0.7181845656283848	0.71761	0.664439988566	0.59081	0.812714219093	0.83908	D	0.91636	0.98466	D	0.149337	0.69205	D	0.345485	0.90137	D	0.312008829859245	0.25497	T	0.995	0.98241	D	0.6150099	0.73497	0.505847	0.71439	0.6150099	0.73498	0.505847	0.71439	-13.405	0.90962	D	.	.	0.996	0.96223	P	.;.;.;.;.	.;.;.;.;.	3.947488	0.57808	23.9	0.99032708541698877	0.50830	0.93401	0.58119	D	AEFGBHCIJ	0.726830	0.67537	D	-0.0160203433218901	0.41130	2.454767	-0.0619533859048216	0.36978	2.158986	0.999965420133808	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.39	2.62	0.30337	2.229000	0.42634	2.215000	0.31401	-0.773000	0.03420	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.6498:0.0:0.3502	9.118	0.35930	617	0.66297	.;.;.;.;.	.	.	.	.	.	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	1690.98	36	chr3	58163173	.	C	A	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.822;DP=816;ExcessHet=0.0000;FS=7.079;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-1.717e+00;SOR=1.326	GT:AD:DP:GQ:PL	0/1:66,65:131:99:1705,0,1575	20	0	1	0
chr3	64658741	64658741	A	G	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon4:c.T730C:p.W244R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.169	N	0.844	N	0.11	N	0.3	T	-1.036	T	0.082	T	0.247	-0.137	3.332	-0.391	-0.265	0.047	9.444	0.055	0.0148853496304	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423412179	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.18956	T	0.348	0.17696	T	0.0	0.02946	B	0.0	0.01387	B	0.168753	0.17438	N	0.596536	0.943989	0.28595	N	-0.175	0.04276	N	0.3	0.61089	T	-1.33	0.33197	N	0.283	0.32037	-1.0355	0.18700	T	0.082	0.32237	T	10	0.06912777	0.09874	T	0.014885	0.35296	T	0.055	0.15663	0.403	0.43408	0.331619326243	0.32766	0.2480851996275321	0.24722	0.338253355066	0.35799	0.286027848721	0.08346	T	0.044253	0.26758	T	-0.256815	0.13276	T	-0.506044	0.21723	T	0.0304810968003591	0.02064	T	0.341266	0.07400	T	0.06304186	0.13231	0.061800756	0.11993	0.06304186	0.13230	0.061800756	0.11992	-0.323	0.00486	T	.	.	0.147	0.44293	B	.;.;.	.;.;.	0.159286	0.05500	1.965	0.49196751643335379	0.04169	0.25154	0.22613	N	AEFDBI	0.112355	0.22211	N	-1.14790889582476	0.05813	0.2660434	-1.08063686844056	0.08081	0.3958353	0.00267297194446538	0.09624	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	6.01	-0.391	0.11826	0.243000	0.17880	0.310000	0.17073	-0.534000	0.04951	0.016000	0.19238	0.000000	0.08366	0.025000	0.12405	0.6527:0.0:0.3473:0.0	9.444	0.37852	870	0.31527	.;.;.	.	.	.	.	.	Uncertain significance	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	1526.98	35	chr3	64658741	.	A	G	1526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.219e+00;DP=842;ExcessHet=0.0000;FS=1.398;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.435;SOR=0.559	GT:AD:DP:GQ:PL	0/1:75,68:143:99:1541,0,1868	20	0	1	0
chr3	69109111	69109111	G	T	exonic	LMOD3	.	nonsynonymous SNV	LMOD3:NM_198271:exon3:c.C1667A:p.P556Q	Nemaline myopathy 10, Autosomal recessive	.	435	1071	16	0	0	16	0.00741427	.	.	215293	not_specified|Nemaline_myopathy_10|not_provided	MedGen:CN169374|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.622	P	0.11	B	.	.	1.000	D	1.935	M	2.6	T	-1.128	T	0.039	T	0.794	2.401	13.99	5.53	2.614	5.914	16.2	0.234	.	0.0003	0.00299521	0.0020	0.0002	0.0003	0	0	0.0007	0	0.0089	0.0010349	160	154602	rs201205115	0.0007	0.0007	0.0005	0.0009	0.0073	0.0007	0.0007	0.0068	0.0067	0	0.0002	0	0	1.904e-05	0.0038	0.0003	0.0010	0.0073	0.0005	0.0005	0.0004	0.0006	0.0071	0.0004	0.0004	0.0052	0.0045	4.821e-05	0	0.0001	0	0	0	0	0.0005	0.0009	0.0071	0.001	0.78490	D	0.045	0.49390	D	0.622	0.39964	P	0.11	0.31460	B	.	.	.	.	0.999999	0.58761	D	1.7	0.43825	L	2.6	0.13204	T	-5.59	0.86527	D	0.753	0.76203	-1.1277	0.01896	T	0.039	0.16849	T	9	0.009101003	0.00206	T	.	.	.	0.234	0.53644	.	.	0.441221003447	0.43743	0.4030161126887055	0.40217	0.0810768927185	0.09121	0.657460093498	0.61046	T	0.054363	0.29704	T	-0.241252	0.15189	T	-0.115872	0.62140	T	0.115575303002286	0.13992	T	0.625137	0.24143	T	0.59228265	0.72275	0.81371063	0.89136	0.59228265	0.72276	0.81371063	0.89137	-9.812	0.72778	D	.	.	0.657	0.71193	P	.;.;.	.;.;.	3.986647	0.58650	24.0	0.96878609923570203	0.31450	0.95287	0.64137	D	AEFDBHCI	0.801815	0.72742	D	0.30940619591794	0.56629	3.828033	0.390226168124508	0.60962	4.289849	0.99999999999988	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.662026	0.63922	0	.	.	5.53	5.53	0.82530	6.791000	0.74907	11.825000	0.97352	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:1.0:0.0	16.2	0.81882	349	0.85513	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	602.98	33	chr3	69109111	.	G	T	602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.837;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=0.751;SOR=0.747	GT:AD:DP:GQ:PL	0/1:35,26:61:99:617,0,848	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|1:48,27:75:99:0|1:75730450_C_T:989,0,1898:75730450	0	0	20	1
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*	.	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	13057.87	155	chr3	75736884	.	G	GA	13057.87	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.070e-01;DP=3250;ExcessHet=25.1139;FS=1.336;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=56.86;MQRankSum=-7.182e+00;QD=4.87;ReadPosRankSum=0.148;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,21:131:99:.:.:210,0,4332	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|1:96,36:132:99:0|1:75736891_G_A:1223,0,3882:75736891	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|1:106,36:142:99:0|1:75736891_G_A:1193,0,4343:75736891	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|1:103,33:136:99:0|1:75736891_G_A:1076,0,4226:75736891	0	0	21	0
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	0/1:87,17:104:99:125,0,3080	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|1:96,18:114:99:0|1:75737092_C_T:467,0,3971:75737092	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|1:97,18:115:99:0|1:75737092_C_T:464,0,4019:75737092	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|1:100,18:118:99:0|1:75737092_C_T:455,0,4145:75737092	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|1:96,18:114:99:0|1:75737092_C_T:467,0,3977:75737092	0	0	21	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del	.	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	31686.7	129	chr3	75737163	.	CCTACATTCT	C	31686.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.49;DP=3384;ExcessHet=54.0936;FS=14.269;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.84;MQRankSum=-1.107e+01;QD=9.48;ReadPosRankSum=-6.730e-01;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,10:95:99:0|1:75737092_C_T:164,0,3501:75737092	0	0	21	0
chr3	75737503	75737503	T	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2120C:p.N707T	.	.	329	1190	3	0	0	3	0.00125892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.024	B	0.009	B	.	.	0.895	N	1.785	L	3.43	T	-0.961	T	0.018	T	0.349	-0.149	3.272	-3.14	-1.749	-1.789	0.575	0.091	0.000625535279908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	0.895327	0.36045	D	.	.	.	3.27	0.06602	T	-0.5	0.15782	N	0.117	0.10626	-0.9611	0.38974	T	0.018	0.07612	T	9	0.05207154	0.05184	T	6.26E-4	0.00303	T	0.091	0.26358	.	.	0.0138822411134	0.00435	0.007749801125605798	0.00739	.	.	0.288034617901	0.08636	T	.	.	.	-0.226952	0.17053	T	-0.563777	0.16024	T	0.0743140232152075	0.09244	T	0.0631937	0.00460	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31931	B	.	.	0.722317	0.10914	7.584	0.62505135950074286	0.06980	0.00330	0.01723	N	AEFDBHCI	0.050091	0.08720	N	-1.39371744401217	0.02696	0.1194333	-1.5759170739318	0.01803	0.08210552	0.999999003011436	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.57	-3.14	0.04928	-2.740000	0.00869	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.175:0.279:0.1766:0.3694	0.575	0.00656	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	0.02381	262.98	158	chr3	75737503	.	T	G	262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=3884;ExcessHet=0.0000;FS=10.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.85;MQRankSum=-3.796e+00;QD=1.68;ReadPosRankSum=0.422;SOR=1.716	GT:AD:DP:GQ:PL	0/1:137,20:157:99:277,0,5072	20	0	1	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	0/1:106,55:161:99:.:.:1883,0,4209	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|1:126,58:184:99:0|1:75737590_A_G:1996,0,5071:75737590	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|1:122,63:185:99:0|1:75737590_A_G:2278,0,4933:75737590	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|1:127,60:187:99:0|1:75737590_A_G:2137,0,5152:75737590	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|1:123,56:179:99:0|1:75737590_A_G:1981,0,4996:75737590	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|1:108,51:159:99:0|1:75737590_A_G:1816,0,4381:75737590	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|1:156,33:189:99:0|1:75737814_C_T:904,0,6103:75737814	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|1:163,21:184:99:0|1:75737881_T_C:245,0,6561:75737881	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|1:159,16:175:99:0|1:75737881_T_C:125,0,6604:75737881	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|1:159,14:173:97:0|1:75737881_T_C:97,0,6608:75737881	0	0	21	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K	.	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.236	B	0.014	B	.	.	1.000	N	0.635	N	3.2	T	-0.977	T	0.011	T	0.371	1.043	9.260	-3.59	-1.049	-1.278	0.971	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4167	9964.28	257	chr3	75738008	.	C	T	9964.28	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-1.381e+00;DP=4529;ExcessHet=17.4423;FS=5.547;InbreedingCoeff=-0.6412;MLEAC=16;MLEAF=0.444;MQ=57.21;MQRankSum=-1.159e+01;QD=2.93;ReadPosRankSum=3.26;SOR=1.304	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,17:207:99:0|1:75737994_T_C:142,0,7794:75737994	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|1:181,17:198:99:0|1:75737994_T_C:169,0,7549:75737994	5	0	13	3
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	0/1:96,11:107:29:29,0,2919	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	0/1:64,13:77:99:132,0,1765	0	0	21	0
chr3	98025612	98025612	G	T	exonic	GABRR3	.	nonsynonymous SNV	GABRR3:NM_001105580:exon3:c.C193A:p.L65I,	.	.	435	1073	13	1	0	15	0.00694123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4e-05	0.00119808	0.0010	0.0001	0.0002	0	0	3.038e-05	0.0011	0.0071	0.0008279	128	154602	rs373571752	0.0005	0.0005	0.0003	0.0007	0.0075	0.0005	0.0005	0.0070	0.0068	0	6.722e-05	0	2.522e-05	0	0.0026	4.409e-05	0.0004	0.0075	0.0003	0.0003	0.0001	0.0004	0.0083	0.0002	0.0002	0.0063	0.0056	0	0	6.545e-05	0	0	0	0	4.411e-05	0	0.0083	.	.	.	0.066	0.44501	T	0.994	0.66517	D	0.96	0.70309	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.42050	.	.	.	.	.	.	.	0.008395404	0.00190	T	.	.	.	.	.	.	.	0.380564188046	0.37663	0.3712657671114812	0.37040	.	.	.	.	.	0.029975	0.21354	T	-0.436084	0.01364	T	-0.396152	0.33832	T	.	.	.	0.926807	0.73035	D	0.040386066	0.05755	0.10034804	0.23989	0.040386066	0.05754	0.10034804	0.23988	-5.38	0.40726	T	.	.	0.160	0.35352	B	.;.	.;.	3.592328	0.50700	23.0	0.99037997461322957	0.50962	0.90578	0.51870	D	AEFBHCI	0.325211	0.42686	N	.	.	.	.	.	.	0.459144162129251	0.20609	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.85	3.04	0.34171	3.155000	0.50398	.	.	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.382000	0.26379	0.1782:0.0:0.8218:0.0	9.468	0.37989	772	0.48957	.;.	.	.	.	.	.	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	935.98	34	chr3	98025612	.	G	T	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.810e-01;DP=779;ExcessHet=0.0000;FS=0.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=0.803;SOR=0.578	GT:AD:DP:GQ:PL	0/1:45,42:87:99:950,0,1154	20	0	1	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.002	B	0.007	B	0.626	N	0.999	N	0.55	N	-2.79	D	-0.614	T	0.561	D	0.252	3.430	17.60	5.86	2.241	5.505	14.197	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	566.96	141	chr3	99790960	.	T	C	566.96	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.024e+00;DP=2798;ExcessHet=3.5521;FS=92.750;InbreedingCoeff=-0.2560;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.888;SOR=10.380	GT:AD:DP:GQ:PL	0/1:98,38:136:99:152,0,1696	12	0	8	1
chr3	100166377	100166377	C	T	exonic	CMSS1	.	nonsynonymous SNV	CMSS1:NM_001167924:exon5:c.C344T:p.S115F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.995	D	0.000	D	1.000	D	2.16	M	1.52	T	-0.841	T	0.198	T	0.917	3.949	20.2	5.6	2.629	6.217	18.174	0.408	0.0544932559133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.033	0.53072	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.051873	1	0.81001	D	2.265	0.64440	M	1.52	0.30669	T	-4.31	0.76576	D	0.698	0.71942	-0.8406	0.52607	T	0.198	0.55286	T	9	0.80531895	0.79879	D	0.054493	0.65878	D	0.408	0.72022	0.671	0.80903	0.749366424934	0.74710	0.6406780989571664	0.64002	0.196713787658	0.22038	0.661002039909	0.61553	T	0.139928	0.48854	T	0.25078	0.78674	D	0.122452	0.78397	D	0.995071709156036	0.86786	D	0.953605	0.82243	D	0.9362004	0.94861	0.8940613	0.94554	0.9362004	0.94861	0.8940613	0.94555	-11.086	0.80128	D	.	.	0.657	0.71221	P	.;.;.	.;.;.	5.208925	0.87404	29.2	0.99827948561704316	0.91026	0.96812	0.71072	D	AEFDGIJ	0.774341	0.70808	D	0.769268469231454	0.84153	8.209028	0.75987147129781	0.86892	9.037498	0.999999752633225	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.6	5.6	0.84997	6.018000	0.70464	7.570000	0.60688	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.174	0.89688	504	0.75712	.;.;.	.	.	.	.	.	Uncertain significance	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	770.98	33	chr3	100166377	.	C	T	770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.594;DP=761;ExcessHet=0.0000;FS=0.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=2.01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:39,33:72:99:785,0,948	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|1:17,15:32:99:0|1:100775333_T_C:219,0,190:100775333	4	0	17	0
chr3	107378225	107378225	T	C	exonic	CCDC54	.	nonsynonymous SNV	CCDC54:NM_032600:exon1:c.T638C:p.I213T,	.	.	420	1081	21	0	0	21	0.00961979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.037	B	0.012	B	0.597	N	1.000	N	1.265	L	0.94	T	-1.027	T	0.054	T	0.102	-2.445	0.003	1.82	0.658	-0.049	5.281	0.042	.	0.0058	0.00559105	0.0074	0.0024	0.0058	0	0.0006	0.0095	0.0044	0.0099	0.0074191	1147	154602	rs34158098	0.0084	0.0084	0.0082	0.0085	0.0196	0.0082	0.0082	0.0167	0.0156	0.0019	0.0085	0.0086	0	0.0011	0.0196	0.0091	0.0083	0.0086	0.0061	0.0061	0.0063	0.0058	0.0093	0.0057	0.0056	0.0087	0.0085	0.0019	0.0022	0.0076	0.0101	0	0.0002	0.0034	0.0093	0.0085	0.0073	0.43	0.09543	T	1.0	0.01155	T	0.037	0.20876	B	0.012	0.16012	B	0.597005	0.05624	N	1.266050	1	0.08975	N	1.245	0.31408	L	0.94	0.43672	T	-2.17	0.49018	N	0.092	0.07125	-1.0270	0.21429	T	0.054	0.22808	T	10	0.005481869	0.00121	T	.	.	.	0.042	0.11227	.	.	0.0297737177859	0.01360	0.03753949567111663	0.03699	0.0705823064649	0.07905	0.360315144062	0.19431	T	0.003405	0.02809	T	-0.648829	0.00074	T	-0.697098	0.05987	T	0.0016111737451026	0.00016	T	0.456654	0.13107	T	0.0464914	0.07790	0.07059691	0.15018	0.0464914	0.07790	0.07059691	0.15018	-2.911	0.09253	T	.	.	0.182	0.39494	B	.	.	0.570465	0.09389	6.170	0.18592314549731387	0.00591	0.03232	0.08247	N	AEFBI	0.056594	0.10474	N	-0.993376873215944	0.08745	0.4111896	-1.00403197990642	0.09696	0.4839018	0.0260931468295475	0.13691	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.57	1.82	0.24209	-0.041000	0.12036	-0.022000	0.12912	0.609000	0.47794	0.001000	0.13787	0.000000	0.08366	0.135000	0.19760	0.0:0.1031:0.177:0.7199	5.281	0.14987	773	0.48803	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1822.98	35	chr3	107378225	.	T	C	1822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.534e+00;DP=1059;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=1.02;SOR=0.681	GT:AD:DP:GQ:PL	0/1:63,73:136:99:1837,0,1676	20	0	1	0
chr3	112126994	112126994	T	G	exonic	GCSAM	.	nonsynonymous SNV	GCSAM:NM_001190260:exon3:c.A138C:p.Q46H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.103	B	0.085	B	0.333	N	1.000	N	0.55	N	.	.	-1.032	T	0.028	T	0.252	2.194	13.29	-0.414	-0.050	0.025	0.853	0.039	.	0.0002	0.00399361	0.0013	0	0	0.0174	0	4.52e-05	0.0011	0.0003	0.0012354	191	154602	rs74831119	0.0006	0.0006	0.0006	0.0006	0.0195	0.0006	0.0006	0.0183	0.0179	0	0	0	0.0195	3.748e-05	0.0002	3.571e-05	0.0007	0.0003	0.0007	0.0007	0.0005	0.0009	0.0191	0.0006	0.0006	0.0160	0.0149	0	0	0	0	0.0191	0	0	4.41e-05	0.0005	0.0019	0.085	0.33254	T	0.14	0.33666	T	0.103	0.25884	B	0.085	0.29395	B	0.333358	0.04144	N	1.478470	1	0.08975	N	1.445	0.36358	L	.	.	.	-1.75	0.49352	N	0.224	0.32481	-1.0315	0.19970	T	0.028	0.11926	T	9	0.002620846	0.00040	T	.	.	.	0.039	0.10176	0.107	0.01868	0.0551355673512	0.04727	0.05094661677769747	0.05036	0.574526423145	0.53482	0.216872990131	0.01137	T	0.176057	0.52586	T	-0.494201	0.00616	T	-0.469688	0.25551	T	0.0188061930268627	0.00591	T	.	.	.	0.06024162	0.12337	0.06429073	0.12864	0.06024162	0.12337	0.06429073	0.12864	-4.414	0.30692	T	0.22054275236106247	0.29732	0.159	0.36355	B	.;.;.;.;.	.;.;.;.;.	1.076365	0.14590	11.15	0.98531162043900555	0.42595	0.08162	0.14126	N	AEFDBCI	0.070243	0.13937	N	-1.13298851662832	0.06064	0.278175	-1.17056193406193	0.06406	0.308271	0.999999492952914	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.468601	0.07175	0	0.564101	0.26826	0	.	.	4.79	-0.414	0.11743	0.017000	0.13294	-0.527000	0.08657	-0.123000	0.13640	0.001000	0.13787	0.000000	0.08366	0.156000	0.20513	0.1587:0.1767:0.1651:0.4994	0.853	0.01102	830	0.39242	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1017.98	34	chr3	112126994	.	T	G	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.048;DP=791;ExcessHet=0.0000;FS=3.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-9.510e-01;SOR=0.999	GT:AD:DP:GQ:PL	0/1:33,45:78:99:1032,0,685	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	2/4:0,0,29,0,17,0:46:99:1805,1834,1928,674,786,791,1834,1928,786,1928,1155,1170,0,1170,1105,1834,1928,786,1928,1170,1928	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	2/4:0,0,29,0,17,0:46:99:1805,1834,1928,674,786,791,1834,1928,786,1928,1155,1170,0,1170,1105,1834,1928,786,1928,1170,1928	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	2/4:0,0,29,0,17,0:46:99:1805,1834,1928,674,786,791,1834,1928,786,1928,1155,1170,0,1170,1105,1834,1928,786,1928,1170,1928	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	2/4:0,0,29,0,17,0:46:99:1805,1834,1928,674,786,791,1834,1928,786,1928,1155,1170,0,1170,1105,1834,1928,786,1928,1170,1928	0	4	0	0
chr3	114350760	114350760	C	T	exonic	ZBTB20	.	nonsynonymous SNV	ZBTB20:NM_001164342:exon4:c.G1318A:p.E440K	Primrose syndrome, Autosomal dominant	.	427	1046	47	2	0	51	0.0237984	.	.	697765	not_provided|not_specified|Primrose_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009798,MedGen:C0796121,OMIM:259050,Orphanet:3042	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.0	B	0.006	N	1.000	D	0.695	N	2.95	T	-1.034	T	0.013	T	0.201	2.240	13.45	5.41	2.546	7.271	19.198	0.085	.	0.0054	0.00479233	0.0061	0.0013	0.0034	0	0.0005	0.0077	0.0066	0.0099	0.0059249	916	154602	rs138924453	0.0062	0.0062	0.0061	0.0062	0.0192	0.0061	0.0060	0.0163	0.0153	0.0007	0.0052	0.0164	0	0.0009	0.0192	0.0062	0.0075	0.0094	0.0053	0.0053	0.0055	0.0052	0.0108	0.0050	0.0049	0.0094	0.0089	0.0010	0.0033	0.0108	0.0164	0.0002	0.0002	0.0238	0.0071	0.0095	0.0068	0.005	0.65419	D	0.908	0.03074	T	0.0	0.02946	B	0.0	0.01387	B	0.005851	0.32460	N	0.335736	0.999918	0.51042	D	0.805	0.20218	L	2.95	0.09822	T	-0.4	0.13805	N	0.462	0.50056	-1.0342	0.19109	T	0.013	0.04985	T	10	0.0055340827	0.00122	T	.	.	.	0.085	0.24743	.	.	0.273495378476	0.26946	0.35997643831087467	0.35911	1.32069806668	0.83445	0.627004861832	0.56721	T	0.106686	0.41824	T	-0.469568	0.00855	T	-0.440456	0.28757	T	0.0611467036723522	0.07347	T	0.878612	0.59406	D	0.38603228	0.59749	0.32534233	0.58450	0.3285269	0.55350	0.32534233	0.58449	-2.938	0.11102	T	.	.	0.352	0.56715	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.272020	0.44790	22.0	0.99728218537375035	0.82549	0.97136	0.72900	D	AEFBI	0.764290	0.70112	D	0.0161949265100816	0.42593	2.569172	0.22455800224508	0.51212	3.305839	0.999999922502221	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.41	5.41	0.78313	7.350000	0.78633	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.198	0.93686	846	0.36215	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7454.68	33	chr3	114350760	.	C	T	7454.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.545;DP=1193;ExcessHet=0.3300;FS=3.239;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=-3.870e-01;SOR=0.511	GT:AD:DP:GQ:PL	0/1:88,95:183:99:2429,0,2284	18	0	3	0
chr3	115676196	115676196	G	C	exonic	GAP43	.	nonsynonymous SNV	GAP43:NM_002045:exon2:c.G214C:p.A72P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.771	P	0.383	B	0.026	N	1.000	N	1.61	L	0.81	T	-0.975	T	0.114	T	0.339	1.198	9.869	3.74	1.291	2.358	6.183	0.066	0.0138723661589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	0.0001	6.814e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	0	0	0.0002	6.304e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.116	0.48594	T	0.371	0.34093	B	0.27	0.39872	B	0.026388	0.25927	N	0.380184	1	0.08975	N	1.935	0.51832	L	0.81	0.48460	T	-1.44	0.36385	N	0.115	0.13055	-0.9747	0.36191	T	0.114	0.40559	T	10	0.13199726	0.25123	T	0.013872	0.33594	T	0.066	0.19193	0.401	0.43081	0.482646159919	0.47895	0.13216878396780574	0.13141	0.27922568898	0.30403	0.315461575985	0.12734	T	0.20433	0.56307	T	-0.115191	0.33911	T	-0.403241	0.33007	T	0.650220215320587	0.38471	D	0.59824	0.32735	T	0.29186904	0.52166	0.3267469	0.58579	0.29186904	0.52166	0.3267469	0.58578	-5.243	0.39376	T	.	.	0.142	0.35247	B	.;.	.;.	2.241624	0.28623	17.86	0.9963283397870325	0.76142	0.37808	0.25845	N	AEFBI	0.528119	0.54978	D	-0.309158098030579	0.28799	1.591533	-0.403764697157965	0.24886	1.36534	1.52725511360971E-4	0.05650	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	4.62	3.74	0.42108	2.136000	0.41744	2.479000	0.32931	0.676000	0.76740	0.127000	0.23295	0.120000	0.22892	0.064000	0.16252	0.1644:0.1547:0.6809:0.0	6.183	0.19696	935	0.14827	Neuromodulin (GAP-43), C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	108.87	93	chr3	115676196	.	G	C	108.87	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.165e+00;DP=1834;ExcessHet=1.1607;FS=178.066;InbreedingCoeff=-0.1514;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.572;SOR=11.555	GT:AD:DP:GQ:PL	0/1:57,23:80:18:18,0,1096	15	0	5	1
chr3	121487389	121487389	T	A	exonic	POLQ	.	stopgain	POLQ:NM_199420:exon16:c.A5542T:p.K1848X,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.008	N	1.000	A	.	.	.	.	.	.	.	.	.	11.716	45	4.49	2.158	1.813	7.844	.	.	.	.	3.303e-05	0	0	0	0	4.504e-05	0	6.072e-05	2.59e-05	4	154602	rs757184831	2.258e-05	2.257e-05	1.634e-05	2.888e-05	0.0003	1.61e-05	1.416e-05	6.092e-05	4.043e-05	0	0	0	0	0	0.0003	1.709e-05	4.968e-05	0.0001	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	.	.	.	.	.	.	.	.	.	.	.	.	0.007596	0.31308	N	0.366664	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.667	0.67564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453337	0.92630	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	7.693518	0.96770	36	0.99608622989018281	0.74694	0.86377	0.45645	D	AEFDBI	0.249491	0.36971	N	0.616981174195137	0.74247	6.100553	0.460944737967961	0.65425	4.821929	0.0937711946008333	0.16190	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.66	4.49	0.54177	1.815000	0.38620	3.520000	0.38893	0.665000	0.62972	0.729000	0.28913	1.000000	0.68203	0.778000	0.36829	0.0:0.0707:0.1365:0.7928	7.844	0.28576	274	0.89249	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1491.98	34	chr3	121487389	.	T	A	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.997e+00;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=0.543;SOR=0.640	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1506,0,1327	20	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.003	B	0.006	B	0.408	N	1.000	N	1.39	L	2.45	T	-1.002	T	0.036	T	0.11	-1.422	0.021	-1.89	-0.182	-1.460	2.032	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4118	1321.45	117	chr3	121697608	.	C	T	1321.45	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-2.821e+00;DP=2409;ExcessHet=14.4320;FS=218.851;InbreedingCoeff=-0.6164;MLEAC=16;MLEAF=0.471;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=0.342;SOR=12.895	GT:AD:DP:GQ:PL	0/1:78,42:120:99:231,0,1616	3	0	14	4
chr3	123955845	123955845	G	C	exonic	CCDC14	.	nonsynonymous SNV	CCDC14:NM_001366335:exon5:c.C350G:p.T117R,	.	.	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.263	B	0.048	B	.	.	1.000	D	.	.	0.91	T	-1.091	T	0.059	T	0.371	1.866	12.20	1.29	0.126	0.684	3.853	0.030	0.0340101483177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.171	0.18239	-1.0912	0.05335	T	0.059	0.24834	T	8	0.08301461	0.13765	T	0.03401	0.55380	D	0.030	0.07022	.	.	0.356897458496	0.35304	.	.	.	.	.	.	.	0.022028	0.17054	T	-0.0654578	0.42051	T	-0.331802	0.41268	T	0.0696924750473244	0.08608	T	0.531747	0.17685	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.22282	B	.	.	1.345652	0.17528	13.22	0.96071586476479354	0.28626	0.63290	0.32043	D	AEFGBI	0.182323	0.30965	N	-0.610083649503819	0.18640	0.9693889	-0.563239010380719	0.20455	1.102105	0.947279609381334	0.27745	0.706298	0.61202	0	0.633656	0.55848	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.08	1.29	0.20717	0.535000	0.22822	3.608000	0.39244	-0.275000	0.06596	0.832000	0.30162	0.996000	0.32793	0.410000	0.27006	0.6655:0.0:0.1785:0.1561	3.853	0.08472	823	0.40596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	736.98	33	chr3	123955845	.	G	C	736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-02;DP=783;ExcessHet=0.0000;FS=2.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=1.21;SOR=0.445	GT:AD:DP:GQ:PL	0/1:33,32:65:99:751,0,784	20	0	1	0
chr3	128915213	128915213	C	T	exonic	CFAP92	.	stopgain	CFAP92:NM_001348520:exon14:c.G2313A:p.W771X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	4.575	24.8	5.31	2.649	5.327	14.821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.226e-07	6.84e-07	1.427e-06	0	9.269e-07	0	0	.	.	0	0	0	0	0	0	9.269e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000262	0.46590	D	0.155080	1	0.81001	A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528224	0.95112	D	0.520981	0.95039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.413241	0.97535	37	0.99430643213232006	0.64227	0.98437	0.82768	D	AEFDBI	0.066606	0.13052	N	0.77148202557775	0.84294	8.248098	0.620154437761453	0.76405	6.484936	0.999960766005551	0.48965	0.562547	0.31514	0	0.379588	0.06130	0	0.608884	0.39905	0	0.508809	0.08732	0	.	.	5.31	5.31	0.75063	5.645000	0.67582	2.871000	0.35267	0.549000	0.26987	0.999000	0.42656	0.994000	0.32194	0.915000	0.45038	0.0:1.0:0.0:0.0	14.821	0.69699	600	0.68026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1191.98	33	chr3	128915213	.	C	T	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.29;DP=795;ExcessHet=0.0000;FS=1.542;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.323;SOR=0.864	GT:AD:DP:GQ:PL	0/1:68,45:113:99:1206,0,1727	20	0	1	0
chr3	128965581	128965581	T	C	exonic	CFAP92	.	nonsynonymous SNV	CFAP92:NM_001348520:exon8:c.A410G:p.N137S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.48038	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.59783	A	.	.	3.125863	0.42218	21.5	0.92978479245851642	0.22560	0.77555	0.38145	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.985691377833118	0.30932	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.058706	0.01089	0	0.956275	0.63725	5.48	5.48	0.80675	3.841000	0.55557	7.652000	0.63756	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.858000	0.40661	0.0:0.0:0.0:1.0	11.963	0.52307	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2016.98	33	chr3	128965581	.	T	C	2016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.324;DP=861;ExcessHet=0.0000;FS=2.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-1.908e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/1:74,85:159:99:2031,0,1713	20	0	1	0
chr3	130421334	130421334	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5011C:p.G1671R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.746	D	2.525	M	-6.29	D	1.094	D	0.984	D	0.953	2.043	12.79	5.29	2.648	4.837	14.806	0.797	0.164375721412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.145e-06	2.052e-06	0	4.35e-06	2.783e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.783e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.745532	0.33870	D	.	.	.	-6.29	0.99632	D	-5.91	0.88904	D	0.939	0.94550	1.094	0.99422	D	0.984	0.99521	D	9	0.9844847	0.98645	D	0.164376	0.84350	D	0.797	0.93346	0.939	0.99156	0.586235444834	0.58297	0.9414209663944619	0.94123	0.243824273026	0.26889	0.697831511497	0.66831	T	0.415688	0.76886	T	0.521084	0.94919	D	0.510724	0.94844	D	0.997076034545898	0.90711	D	0.905809	0.66782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.80266	P	.	.	5.150285	0.86261	28.9	0.99794094919957821	0.87928	0.95070	0.63328	D	AEFBI	0.711476	0.66491	D	0.700525877457095	0.79667	7.126234	0.630267782049677	0.77149	6.623992	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	0.950000	0.49671	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	0.1429	739.91	44	chr3	130421334	.	G	C,*	739.91	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.709e+00;DP=1024;ExcessHet=1.7912;FS=120.026;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=1.94;ReadPosRankSum=0.653;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,6,0:46:86:0|1:130421334_G_C:86,0,1626,207,1644,1851:130421334	15	0	5	0
chr3	130421334	130421334	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	739.91	44	chr3	130421334	.	G	C,*	739.91	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.709e+00;DP=1024;ExcessHet=1.7912;FS=120.026;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=1.94;ReadPosRankSum=0.653;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,6,0:46:86:0|1:130421334_G_C:86,0,1626,207,1644,1851:130421334	15	0	5	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.724	D	2.525	M	-6.28	D	1.094	D	0.984	D	0.964	2.130	13.08	5.29	2.648	4.837	14.806	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:40,0,6,0:46:86:0|1:130421334_G_C:86,207,1851,0,1644,1626,207,1851,1644,1851:130421334	0	0	4	6
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	0.511	D	2.525	M	-6.27	D	1.074	D	0.984	D	0.872	2.027	12.73	5.29	2.648	4.837	14.806	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:40,0,6,0:46:86:0|1:130421334_G_C:86,207,1851,0,1644,1626,207,1851,1644,1851:130421334	0	0	4	6
chr3	130421335	130421335	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:40,0,6,0:46:86:0|1:130421334_G_C:86,207,1851,0,1644,1626,207,1851,1644,1851:130421334	0	0	4	6
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.916	P	0.583	P	.	.	0.994	N	2.525	M	-3.16	D	-0.023	T	0.759	D	0.237	2.052	12.82	1.49	0.394	1.106	3.899	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,6,0:45:89:0|1:130421334_G_C:89,0,1604,207,1622,1829:130421334	0	0	14	6
chr3	130421337	130421337	T	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,6,0:45:89:0|1:130421334_G_C:89,0,1604,207,1622,1829:130421334	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|1:39,6,0:45:89:0|1:130421334_G_C:89,0,1604,207,1622,1829:130421334	6	0	10	4
chr3	130565072	130565072	A	G	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon3:c.A740G:p.Y247C,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.828	P	0.52	P	0.356	N	1.000	N	1.585	L	-1.7	D	-0.550	T	0.432	T	0.403	-0.126	3.385	-0.673	-0.262	0.416	6.766	0.396	0.0341706164559	0.0003	0.000399361	0.0001	0.0007	0	0	0	1.5e-05	0	0.0003	0.0001035	16	154602	rs187765736	8.484e-05	8.482e-05	6.807e-05	0.0001	0.0005	7.21e-05	6.797e-05	0.0004	0.0004	0.0004	0	0	0	0	0.0003	4.857e-05	0.0001	0.0005	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	9.695e-05	0.0004	0.0003	0.0005	0	0	0	0	0	0	0	0.0009	0.0002	0.162	0.23541	T	0.002	0.79402	D	0.828	0.46021	P	0.52	0.48197	P	0.356386	0.13737	N	0.662431	1	0.08975	N	2.585	0.75554	M	-1.7	0.83072	D	-2.66	0.56945	D	0.381	0.42247	-0.5496	0.66802	T	0.432	0.77355	T	10	0.09465328	0.16848	T	0.034171	0.55491	D	0.396	0.71084	.	.	0.260249123532	0.25628	0.4042719208634835	0.40343	0.27678225461	0.30148	0.352663248777	0.18313	T	0.210184	0.57060	T	-0.258224	0.13108	T	-0.254664	0.49354	T	0.10632034801284	0.13039	T	0.678032	0.28700	T	0.31761444	0.54437	0.28182268	0.54166	0.31761444	0.54437	0.28182268	0.54165	-7.044	0.54354	T	.	.	0.120	0.24733	B	.	.	1.385912	0.17977	13.48	0.79853184302477787	0.12930	0.22349	0.21716	N	AEFBI	0.145927	0.26926	N	-0.973294173072837	0.09177	0.4332482	-1.12853218820765	0.07159	0.3471937	1.33274751317059E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	-0.673	0.10802	0.421000	0.20999	2.369000	0.32418	-0.729000	0.03740	0.000000	0.06391	0.001000	0.17328	0.011000	0.09372	0.3174:0.3471:0.0:0.3354	6.766	0.22755	671	0.60868	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1153.98	46	chr3	130565072	.	A	G	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.119;DP=865;ExcessHet=0.0000;FS=2.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.465;SOR=0.409	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1168,0,1113	20	0	1	0
chr3	130571225	130571225	C	T	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon6:c.C2809T:p.R937W,	.	.	431	1084	7	0	0	7	0.00321839	.	.	438256	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.987	D	0.000	D	1.000	N	2.78	M	-1.48	T	-0.171	T	0.630	D	0.748	2.976	15.92	-0.348	0.130	0.228	9.841	0.502	0.0780525447816	0.0033	0.000798722	0.0027	0.0009	0.0022	0	0.0014	0.0041	0.0034	0.0006	0.0006015	93	154602	rs111457392	0.0034	0.0034	0.0035	0.0032	0.0061	0.0033	0.0032	0.0045	0.0039	0.0010	0.0029	0.0024	0	0.0009	0.0061	0.0039	0.0031	0.0010	0.0022	0.0022	0.0022	0.0021	0.0050	0.0020	0.0019	0.0041	0.0037	0.0006	0	0.0050	0.0020	0	0.0009	0	0.0030	0.0024	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.000067	0.52346	D	0.000000	1	0.08975	N	3.23	0.89537	M	-1.48	0.81150	T	-7.42	0.94814	D	0.759	0.75742	-0.1707	0.78411	T	0.630	0.87021	D	10	0.09041521	0.15750	T	0.078053	0.72915	D	0.502	0.78475	.	.	0.65729183307	0.65442	0.852140444280563	0.85176	0.352803517232	0.37101	0.565125703812	0.47990	T	0.538262	0.84143	D	-0.149589	0.28376	T	0.0146844	0.71286	D	0.104826968530216	0.12878	T	0.954105	0.82551	D	0.760357	0.81474	0.43731967	0.67155	0.760357	0.81476	0.43731967	0.67156	-10.675	0.77845	D	.	.	0.255	0.48998	B	.	.	3.833933	0.55435	23.6	0.99891192713163335	0.96513	0.09176	0.14984	N	AEFBI	0.406518	0.47897	N	0.139886643783906	0.48332	3.046928	-0.0528989722998284	0.37364	2.186816	1.17220063802798E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.82	-0.348	0.11987	-0.020000	0.12466	-0.580000	0.08381	0.599000	0.40250	0.206000	0.24378	0.004000	0.18990	0.519000	0.29452	0.682:0.2126:0.1054:0.0	9.841	0.40164	597	0.68309	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1775.98	36	chr3	130571225	.	C	T	1775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=926;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.18;ReadPosRankSum=-5.310e-01;SOR=0.782	GT:AD:DP:GQ:PL	0/1:53,64:117:99:1790,0,1246	20	0	1	0
chr3	150568244	150568244	A	C	exonic	EIF2A	.	nonsynonymous SNV	EIF2A:NM_001319044:exon7:c.A580C:p.T194P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.972	D	0.000	D	1.000	D	2.505	M	3.26	T	-0.366	T	0.323	T	0.97	4.363	23.0	5.95	2.272	8.904	16.407	0.534	0.0213425064669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.53900	D	0.056	0.47097	T	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.73	0.79844	M	1.41	0.33630	T	-3.0	0.62343	D	0.65	0.71232	-0.3658	0.73089	T	0.323	0.69221	T	10	0.70100224	0.72443	D	0.021343	0.44093	T	0.553	0.81544	0.699	0.83592	0.784700991407	0.78271	0.743168788842752	0.74262	0.616629423173	0.56118	0.708202362061	0.68333	T	0.485356	0.81229	T	0.267661	0.80231	D	0.147	0.79975	D	0.947994828224182	0.62800	D	0.933407	0.75038	D	0.7038058	0.78265	0.74330014	0.84827	0.7038058	0.78267	0.74330014	0.84827	-13.337	0.92037	D	.	.	0.918	0.84045	P	.;.;.;.	.;.;.;.	4.822277	0.78552	26.9	0.9964849368424693	0.77130	0.99682	0.98627	D	AEFBI	0.969621	0.99199	D	0.668070418135055	0.77542	6.694877	0.58825442757094	0.74097	6.079336	0.999999805332197	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	8.887000	0.92083	11.231000	0.90101	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	16.407	0.83516	928	0.17405	.;Translation initiation factor, beta propellor-like domain;.;Translation initiation factor, beta propellor-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	0.04545	104.89	55	chr3	150568244	.	A	C	104.89	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-5.330e-01;DP=901;ExcessHet=0.0000;FS=101.470;InbreedingCoeff=-0.1667;MLEAC=2;MLEAF=0.091;MQ=59.96;MQRankSum=0.00;QD=3.09;ReadPosRankSum=1.05;SOR=5.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,11:34:99:.:.:114,0,351	10	0	1	10
chr3	154122017	154122017	T	A	exonic	ARHGEF26	.	nonsynonymous SNV	ARHGEF26:NM_001251962:exon2:c.T25A:p.F9I	.	.	427	1033	57	5	0	67	0.0314112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.001	B	0.003	B	0.000	D	0.559	D	0.695	N	2.04	T	-1.012	T	0.071	T	0.153	3.503	17.90	2.38	0.653	0.634	5.602	0.024	.	0.0067	0.00738818	0.0098	0.0017	0.0036	0	0.0062	0.0101	0.0129	0.0262	0.0091267	1411	154602	rs139430962	0.0097	0.0097	0.0091	0.0104	0.0245	0.0096	0.0095	0.0237	0.0233	0.0012	0.0043	0.0010	5.11e-05	0.0066	0.0212	0.0097	0.0089	0.0245	0.0067	0.0067	0.0064	0.0070	0.0278	0.0064	0.0062	0.0240	0.0225	0.0013	0.0011	0.0061	0.0020	0.0002	0.0045	0.0136	0.0098	0.0076	0.0278	0.0	0.91255	D	0.096	0.52060	T	0.001	0.07471	B	0.001	0.04355	B	0.000190	0.48115	D	0.140928	0.558637	0.32194	D	1.78	0.46185	L	0.23	0.64630	T	-0.91	0.30762	N	0.233	0.38438	-1.0122	0.26228	T	0.071	0.28871	T	10	0.003982842	0.00077	T	.	.	.	0.024	0.04979	.	.	0.459818148978	0.45609	0.13923310431093144	0.13846	0.121683234402	0.13713	0.574688792229	0.49339	T	0.002676	0.02065	T	-0.420583	0.01696	T	-0.359329	0.38131	T	0.0941204471095192	0.11697	T	0.592841	0.22456	T	0.54745376	0.69814	0.28995273	0.55016	0.54745376	0.69815	0.28995273	0.55015	-3.511	0.16600	T	.	.	0.076	0.37159	B	.;.;.;.	.;.;.;.	2.139647	0.27245	17.40	0.98046948600260686	0.37835	0.71905	0.35217	D	AEFDGBCIJ	0.150255	0.27451	N	-0.463189237740392	0.23295	1.249935	-0.320018905430494	0.27452	1.523414	0.999999999235656	0.74766	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.618803	0.45993	0	.	.	4.79	2.38	0.28415	0.882000	0.27824	-0.375000	0.09580	0.665000	0.62972	0.997000	0.40164	0.000000	0.08366	0.967000	0.53440	0.1533:0.0862:0.0:0.7605	5.602	0.16638	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5680.68	35	chr3	154122017	.	T	A	5680.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.523e+00;DP=1115;ExcessHet=0.3300;FS=0.517;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-2.990e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/1:72,73:145:99:1764,0,1884	18	0	3	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	0/2:75,10,33:118:99:.:.:870,500,2572,0,2127,2684	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	0/2:75,10,33:118:99:.:.:870,500,2572,0,2127,2684	6	0	2	4
chr3	155853646	155853646	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C352T:p.P118S	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.345	M	-1.38	T	0.736	D	0.747	D	0.921	4.706	26.1	4.67	1.443	9.529	16.551	0.884	0.26441884066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.19	0.88972	M	-1.38	0.80301	T	-7.83	0.96005	D	0.908	0.90932	0.736	0.93619	D	0.747	0.91359	D	10	0.9726635	0.96917	D	0.264419	0.89636	D	0.884	0.96614	0.878	0.96734	0.965889320013	0.96552	0.9090685925036052	0.90880	2.253141148	0.96121	0.804085373878	0.82587	D	0.791811	0.94599	D	0.429981	0.91531	D	0.379861	0.91426	D	0.999662041664124	0.98390	D	0.999705	0.99908	D	0.9068161	0.92000	0.9047807	0.95316	0.9068161	0.92001	0.9047807	0.95317	-12.527	0.87323	D	0.973445658806593	0.99205	0.989	0.94165	P	.;.;.;.	.;.;.;.	5.407850	0.90534	31	0.99921391491893274	0.98787	0.94332	0.60828	D	AEFDBCI	.	.	.	0.924929507467059	0.92926	11.71334	0.845487219852171	0.92750	11.60935	0.999999999962498	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	4.67	0.58089	9.628000	0.97812	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1307:0.8693:0.0	16.551	0.84321	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	0.04762	636.11	37	chr3	155853646	.	G	A	636.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.810e+00;DP=1180;ExcessHet=0.1072;FS=236.570;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.78;ReadPosRankSum=1.31;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,33:125:99:0|1:155853644_G_C:319,0,2870:155853644	19	0	2	0
chr3	157437630	157437630	G	C	exonic	PTX3	.	nonsynonymous SNV	PTX3:NM_002852:exon2:c.G248C:p.G83A,	.	.	429	1049	42	2	0	46	0.0214552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.001	B	0.001	B	0.035	N	1.000	N	-0.145	N	3.21	T	-0.985	T	0.012	T	0.019	0.237	5.281	1.06	0.855	1.515	7.024	0.080	.	0.0003	0.00459265	0.0132	0	0.0021	0	0	0.0056	0.0060	0.0248	0.00326	504	154602	rs148943471	0.0031	0.0032	0.0024	0.0038	0.0239	0.0030	0.0030	0.0230	0.0227	0.0003	0.0011	0.0084	2.762e-05	0.0003	0.0177	0.0017	0.0047	0.0239	0.0023	0.0023	0.0018	0.0029	0.0209	0.0021	0.0021	0.0176	0.0164	0.0005	0	0.0014	0.0081	0.0002	9.413e-05	0.0170	0.0025	0.0033	0.0209	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.035426	0.01802	N	2.026420	0.99764	0.58761	N	2.105	0.58435	M	3.21	0.07125	T	0.02	0.06739	N	0.055	0.02658	-0.9854	0.33735	T	0.012	0.04605	T	10	0.0038408637	0.00073	T	.	.	.	0.080	0.23350	.	.	0.190952846119	0.18690	0.4614426320875624	0.46062	0.247234570018	0.27269	0.649283289909	0.59884	T	0.04848	0.28029	T	-0.715397	0.00029	T	-0.78147	0.02409	T	0.00553688543206395	0.00060	T	0.592841	0.21881	T	0.030456103	0.02712	0.05540971	0.09715	0.030456103	0.02712	0.05540971	0.09714	-3.097	0.11262	T	.	.	0.088	0.11654	B	.	.	2.130164	0.27123	17.35	0.86441003015604689	0.16538	0.59410	0.30907	D	ALL	0.181830	0.30915	N	-0.680120344081012	0.16590	0.8465395	-0.518097625390096	0.21662	1.172889	0.999999997809444	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.18	1.06	0.19341	1.529000	0.35602	1.344000	0.25758	0.618000	0.50648	0.978000	0.35038	0.791000	0.26863	0.939000	0.47918	0.0:0.3428:0.2557:0.4015	7.024	0.24111	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1599.11	38	chr3	157437630	.	G	C	1599.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.51;DP=847;ExcessHet=0.1072;FS=3.505;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=0.703;SOR=0.429	GT:AD:DP:GQ:PL	0/1:29,29:58:99:849,0,724	19	0	2	0
chr3	157442738	157442738	T	C	exonic	PTX3	.	nonsynonymous SNV	PTX3:NM_002852:exon3:c.T905C:p.V302A,	.	.	426	1095	0	1	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.969	D	0.832	P	0.000	D	1.000	D	2.845	M	2.89	T	-1.000	T	0.092	T	0.17	3.599	18.33	5.86	2.241	7.587	16.248	0.381	0.0268136438354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.022	0.57587	D	0.969	0.56768	D	0.832	0.59730	P	0.000367	0.45194	D	0.198841	0.995121	0.81001	D	2.43	0.70455	M	2.89	0.10196	T	-3.19	0.64593	D	0.341	0.38232	-0.9998	0.29973	T	0.092	0.35228	T	10	0.45706624	0.59055	T	0.026814	0.49694	D	0.381	0.69863	0.725	0.85937	0.61513531927	0.61202	0.771251246932743	0.77075	0.664077401662	0.59052	0.384255051613	0.22858	T	0.202573	0.56079	T	-0.164931	0.26005	T	-0.474688	0.25012	T	0.962833523750305	0.66483	D	0.840916	0.51656	T	0.36167428	0.57964	0.3791893	0.62980	0.36167428	0.57964	0.3791893	0.62980	-8.138	0.62006	D	.	.	0.683	0.72250	P	.	.	4.531872	0.71148	25.6	0.99634010860210587	0.76203	0.96158	0.67799	D	AEFGBCI	0.815904	0.73777	D	0.581646817757659	0.72030	5.741953	0.475410305670346	0.66363	4.942557	0.999999999999814	0.74766	0.645754	0.44609	0	0.563428	0.19063	0	0.696353	0.63694	0	0.723	0.93126	0	.	.	5.86	5.86	0.93936	7.565000	0.81337	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.923000	0.45890	0.0:0.0:0.0:1.0	16.248	0.82278	778	0.48011	LamG-like jellyroll 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	0.02381	2119.98	40	chr3	157442738	.	T	C	2119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.809;DP=860;ExcessHet=0.0000;FS=1.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=1.74;SOR=0.599	GT:AD:DP:GQ:PL	0/1:88,83:171:99:2134,0,2228	20	0	1	0
chr3	172295450	172295450	C	A	exonic	FNDC3B	.	nonsynonymous SNV	FNDC3B:NM_001135095:exon8:c.C937A:p.P313T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.839	P	0.754	P	0.000	D	1.000	D	0.66	N	0.43	T	-0.980	T	0.134	T	0.156	3.345	17.26	5.06	2.835	1.190	4.643	0.116	0.00810622615147	.	0.000399361	0.0007	0	0	0.0001	0	2.997e-05	0	0.0046	0.0005239	81	154602	rs555695775	0.0003	0.0003	0.0001	0.0004	0.0045	0.0003	0.0003	0.0041	0.0040	0	2.236e-05	0	0	0	0.0003	6.296e-06	0.0002	0.0045	0.0002	0.0002	8.994e-05	0.0002	0.0046	0.0001	9.231e-05	0.0031	0.0026	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0046	0.092	0.31682	T	0.113	0.36901	T	0.221	0.30336	B	0.246	0.38861	B	0.000001	0.84330	D	0.097214	0.838426	0.35027	D	0.235	0.09667	N	0.43	0.56772	T	-2.35	0.51968	N	0.181	0.21969	-0.9801	0.34979	T	0.134	0.44700	T	10	0.008096218	0.00184	T	0.008106	0.21495	T	0.116	0.32463	0.443	0.49975	0.171220215726	0.16700	0.4019756284087958	0.40113	0.761476978541	0.64281	0.574085831642	0.49255	T	0.098924	0.40322	T	-0.476345	0.00777	T	-0.45606	0.27030	T	0.149171564207564	0.17037	T	0.755224	0.37818	T	0.20746177	0.42952	0.13956109	0.33296	0.19216152	0.40875	0.14004917	0.33395	-5.331	0.40249	T	.	.	0.248	0.48624	B	.;.;.	.;.;.	3.100322	0.41782	21.4	0.99677429846915178	0.79043	0.62573	0.31823	D	AEFBHCI	0.081810	0.16559	N	0.155143756783092	0.49056	3.110297	0.290316180966948	0.54972	3.660936	0.999999819556546	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.67347	0.61138	0	0.711	0.71501	0	.	.	5.98	5.06	0.67838	0.975000	0.29046	3.892000	0.40300	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.982000	0.59238	0.1581:0.6102:0.1522:0.0795	4.643	0.11947	929	0.16858	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	643.98	36	chr3	172295450	.	C	A	643.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.300e-02;DP=787;ExcessHet=0.0000;FS=1.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.24;ReadPosRankSum=-4.500e-01;SOR=0.936	GT:AD:DP:GQ:PL	0/1:56,33:89:99:658,0,1315	20	0	1	0
chr3	183379378	183379378	G	A	exonic	MCF2L2	.	nonsynonymous SNV	MCF2L2:NM_015078:exon3:c.C194T:p.T65M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.001	D	0.692	D	2.675	M	-0.05	T	0.237	D	0.446	T	0.658	3.453	17.69	4.59	1.439	4.603	13.180	0.314	0.042092774022	0.0003	.	0.0003	0	0.0003	0	0	0.0005	0	0	0.0002458	38	154602	rs200353022	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	0.0001	0.0005	0.0040	0	9.368e-05	0.0002	0.0002	0.0005	0	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0001	0	0	0.0004	0.0029	0	9.422e-05	0	0.0002	0.0005	0	0.001	0.78490	D	0.007	0.74150	D	1.0	0.90584	D	0.993	0.81110	D	0.000721	0.42129	D	0.214818	0.692141	0.33337	D	2.75	0.80375	M	-0.05	0.63403	T	-4.02	0.80340	D	0.808	0.81957	0.237	0.86537	D	0.446	0.78209	T	10	0.034393996	0.01646	T	0.042093	0.60282	D	0.314	0.63588	.	.	0.863614663845	0.86229	0.8776161832569945	0.87728	0.714357934396	0.61881	0.595325767994	0.52245	T	0.077352	0.35633	T	-0.0926492	0.37638	T	-0.0807176	0.64851	T	0.294734567403793	0.24786	T	0.983302	0.94582	D	0.2013564	0.42143	0.25767472	0.51488	0.2013564	0.42143	0.25767472	0.51487	-9.737	0.72480	D	.	.	0.228	0.46037	B	.;.;.;.;.;.	.;.;.;.;.;.	4.741089	0.76452	26.5	0.99901175500161477	0.97275	0.87529	0.47098	D	AEFBI	0.454476	0.50717	N	0.673489635596879	0.77896	6.763797	0.603698854282559	0.75210	6.27009	0.919846800638901	0.26614	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.47	4.59	0.56297	5.080000	0.64267	8.706000	0.78122	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0786:0.0:0.9214:0.0	13.180	0.59069	506	0.75555	CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;.;.;.;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding 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	35	chr3	183379378	.	G	A	1821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.866;DP=878;ExcessHet=0.0000;FS=2.815;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-1.162e+00;SOR=0.479	GT:AD:DP:GQ:PL	0/1:93,75:168:99:1836,0,2342	20	0	1	0
chr3	184383641	184383641	C	T	exonic	CHRD	.	nonsynonymous SNV	CHRD:NM_001304472:exon12:c.C1439T:p.T480M	.	.	426	1070	25	1	0	27	0.0124596	0.0002	0.432	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.075	B	0.021	B	0.501	N	0.856	N	0.205	N	0.91	T	-1.054	T	0.032	T	0.106	-1.876	0.008	-8.54	-2.917	-1.808	11.140	0.053	.	0.0009	0.00259585	0.0033	0.0003	0.0014	0	0	0.0015	0.0060	0.0194	0.0028201	436	154602	rs148110430	0.0023	0.0023	0.0018	0.0028	0.0182	0.0022	0.0022	0.0175	0.0172	0.0004	0.0014	0.0084	0	1.887e-05	0.0082	0.0011	0.0034	0.0182	0.0017	0.0017	0.0014	0.0019	0.0168	0.0015	0.0014	0.0138	0.0127	0.0004	0	0.0025	0.0095	0	0	0	0.0011	0.0019	0.0168	0.299	0.14595	T	0.195	0.28032	T	0.005	0.15914	B	0.008	0.16460	B	0.500723	0.11953	N	0.775315	1	0.28427	N	-0.895	0.01383	N	0.91	0.44856	T	0.16	0.05217	N	0.145	0.15046	-1.0543	0.13225	T	0.032	0.13635	T	10	0.005623102	0.00125	T	.	.	.	0.053	0.14996	.	.	0.3349148499	0.33108	0.267500168626317	0.26663	0.329577118065	0.35066	0.27541744709	0.06861	T	0.154211	0.49540	T	-0.670204	0.00055	T	-0.721198	0.04738	T	0.00852393164526867	0.00104	T	0.548145	0.18826	T	0.017565088	0.00283	0.05225572	0.08571	0.017565088	0.00283	0.05225572	0.08571	-7.487	0.57519	T	.	.	0.059	0.00904	B	.;.	.;.	-1.893159	0.00128	0.002	0.66460612514951911	0.08065	0.00100	0.00648	N	AEFDGBI	0.117417	0.23003	N	-2.28030372182783	0.00050	0.002165339	-2.35579059314567	0.00050	0.002186274	0.999999987198871	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.27	-8.54	0.00794	-2.386000	0.01139	-6.623000	0.01348	-1.848000	0.00574	0.010000	0.18352	0.000000	0.08366	0.015000	0.10482	0.0:0.5354:0.1039:0.3607	11.140	0.47622	901	0.24189	CHRD|CHRD|CHRD;CHRD|CHRD|CHRD	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1564.98	42	chr3	184383641	.	C	T	1564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=992;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=1.31;SOR=0.772	GT:AD:DP:GQ:PL	0/1:77,66:143:99:1579,0,1725	20	0	1	0
chr3	185254016	185254016	C	A	exonic	EHHADH	.	stopgain	EHHADH:NM_001966:exon1:c.G7T:p.E3X,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	.	.	.	.	0.002	N	1.000	A	.	.	.	.	.	.	.	.	.	6.362	37	4.85	2.674	1.306	13.658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002088	0.37271	N	0.303092	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.529	0.56662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.246944	0.97341	37	0.99533333375611421	0.70025	0.80449	0.40084	D	ALL	0.218205	0.34323	N	0.779319782442578	0.84795	8.388935	0.622112593625657	0.76549	6.511524	1.0	0.98316	0.685219	0.55550	0	0.484254	0.07192	0	0.674405	0.61402	0	0.372554	0.06265	0	.	.	4.85	4.85	0.62375	1.316000	0.33226	1.695000	0.28095	0.599000	0.40250	0.863000	0.30666	0.910000	0.28117	0.952000	0.50033	0.0:1.0:0.0:0.0	13.658	0.61824	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	0.02381	1052.98	33	chr3	185254016	.	C	A	1052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.671;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-2.370e-01;SOR=0.696	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1067,0,657	20	0	1	0
chr3	185473330	185473330	G	A	exonic	MAP3K13	.	nonsynonymous SNV	MAP3K13:NM_001242317:exon10:c.G1378A:p.A460T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.994	D	0.723	P	0.000	D	1.000	D	0.695	N	2.52	T	-1.107	T	0.042	T	0.695	3.601	18.33	4.59	1.275	6.585	16.264	0.230	0.0103814971554	.	0.000199681	8.238e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs564401067	3.42e-06	3.42e-06	5.445e-06	1.375e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	6.568e-06	6.563e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.023	0.48642	D	0.232	0.30828	T	0.994	0.66517	D	0.723	0.54990	P	0.000118	0.50451	D	0.132994	1	0.81001	D	2.505	0.72935	M	2.52	0.14160	T	-1.0	0.29933	N	0.336	0.43610	-1.1065	0.03388	T	0.042	0.17869	T	10	0.25680017	0.43089	T	0.010381	0.26850	T	0.230	0.53062	0.456	0.52102	0.439749870471	0.43592	0.5981172159055558	0.59742	0.236333348273	0.26171	0.582455396652	0.50431	T	0.034621	0.23393	T	-0.0780641	0.40029	T	-0.253056	0.49516	T	0.66992449760437	0.39334	D	0.744226	0.36553	T	0.07174946	0.15907	0.13698144	0.32754	0.07174946	0.15907	0.13698144	0.32753	-3.472	0.16195	T	.	.	0.639	0.70483	P	.;.;.;.	.;.;.;.	3.291544	0.45147	22.1	0.99803525434769669	0.88817	0.93791	0.59201	D	AEFGBCI	0.680770	0.64435	D	0.0894741811099624	0.45974	2.845002	0.121520214530351	0.45650	2.824554	0.999999995210059	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.47	4.59	0.56297	6.705000	0.74467	3.039000	0.36073	-0.681000	0.04224	1.000000	0.71638	0.999000	0.35428	0.971000	0.54645	0.0:0.1329:0.867:0.0	16.264	0.82389	739	0.53257	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3119.98	33	chr3	185473330	.	G	A	3119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.541;DP=890;ExcessHet=0.0000;FS=0.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.76;ReadPosRankSum=1.79;SOR=0.624	GT:AD:DP:GQ:PL	0/1:83,115:198:99:3134,0,2003	20	0	1	0
chr3	186564152	186564152	T	A	exonic	TBCCD1	.	nonsynonymous SNV	TBCCD1:NM_001134415:exon2:c.A178T:p.I60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.944	D	0.000	D	1.000	D	2.14	M	-0.84	T	0.150	D	0.540	D	0.656	4.854	27.7	5.75	2.196	5.813	13.998	0.578	0.164145886734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.92824	D	0.997	0.70673	D	0.944	0.68059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.65	0.77586	M	-0.84	0.74265	T	-2.4	0.70314	N	0.909	0.91047	0.150	0.85059	D	0.540	0.83056	D	10	0.6040953	0.67076	D	0.164146	0.84332	D	0.578	0.82968	0.511	0.60846	0.775400501834	0.77333	0.7466056534558287	0.74606	0.713192987955	0.61806	0.631625235081	0.57376	T	0.283072	0.65583	T	0.150616	0.69326	D	-0.0214273	0.68935	D	0.935144603252411	0.60314	D	0.906409	0.67021	D	0.42050147	0.62125	0.48524758	0.70205	0.42050147	0.62126	0.48524758	0.70205	-3.613	0.18045	T	.	.	0.394	0.74760	A	.;.;.;.	.;.;.;.	4.273020	0.65030	24.8	0.98915821851861052	0.48454	0.99057	0.90596	D	AEFGBI	0.716190	0.66810	D	0.722665942790203	0.81118	7.448024	0.71303107920468	0.83367	8.003413	0.999999999994703	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.75	5.75	0.90390	5.780000	0.68607	6.121000	0.53786	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:0.0:1.0	13.998	0.63929	850	0.35610	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1369.98	33	chr3	186564152	.	T	A	1369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=797;ExcessHet=0.0000;FS=7.329;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=-8.330e-01;SOR=1.193	GT:AD:DP:GQ:PL	0/1:61,52:113:99:1384,0,1547	20	0	1	0
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L	.	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	.	.	1.000	N	0	N	3.15	T	-0.948	T	0.016	T	0.091	1.132	9.616	.	0.119	0.856	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2812	1276.28	7	chr3	195725265	.	C	T	1276.28	.	AC=9;AF=0.281;AN=32;BaseQRankSum=2.03;DP=174;ExcessHet=0.2102;FS=9.661;InbreedingCoeff=0.1472;MLEAC=11;MLEAF=0.344;MQ=27.87;MQRankSum=0.329;QD=17.02;ReadPosRankSum=-4.050e-01;SOR=3.729	GT:AD:DP:GQ:PL	0/1:6,11:17:99:283,0,103	9	2	5	5
chr3	195778848	195778848	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12732G:p.S4244R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	P	0.244	B	.	.	1.000	N	0	N	1.34	T	-1.063	T	0.045	T	0.233	-0.622	1.237	0.884	0.287	0.047	5.245	0.022	0.001674397991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-07	6.84e-07	1.363e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.26852	T	0.083	0.41573	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.34	0.40218	T	-1.4	0.41046	N	0.145	0.14622	-1.0635	0.10902	T	0.045	0.19152	T	8	0.09230414	0.16243	T	0.001674	0.02753	T	0.022	0.04323	.	.	0.0138822411134	0.00435	0.03665769502132762	0.03612	.	.	0.276885211468	0.07062	T	.	.	.	-0.243001	0.14968	T	-0.58683	0.13941	T	0.155504221895699	0.17533	T	0.715328	0.32778	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.56825	A	.;.	.;.	0.623142	0.09915	6.675	0.37993338942710736	0.02536	0.03384	0.08490	N	AEFBI	0.078138	0.15761	N	-0.971185810290453	0.09223	0.4356208	-1.07755433378981	0.08143	0.399099	1.43074782780278E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.85	0.884	0.18317	-0.012000	0.12637	0.749000	0.21222	-0.993000	0.01841	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.6596:0.3404	5.245	0.14808	597	0.68309	.;.	.	.	.	.	.	Uncertain significance	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	5028.98	263	chr3	195778848	.	G	C	5028.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=5699;ExcessHet=0.0000;FS=0.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.35;MQRankSum=-5.545e+00;QD=13.70;ReadPosRankSum=2.03;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:213,154:367:99:0|1:195778793_G_A:5043,0,7113:195778793	20	0	1	0
chr3	195779220	195779220	A	0	exonic	MUC4	.	.	.	.	.	729	613	71	27	82	207	0.0925241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	4281.86	308	chr3	195779220	.	A	C,*	4281.86	.	AC=3,1;AF=0.214,0.071;AN=14;BaseQRankSum=0.534;DP=5938;ExcessHet=0.0193;FS=0.533;InbreedingCoeff=0.1614;MLEAC=6,2;MLEAF=0.429,0.143;MQ=57.49;MQRankSum=-7.676e+00;QD=5.92;ReadPosRankSum=-3.394e+00;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:233,68,0:301:99:.:.:965,0,6534,1661,6736,8397	4	0	2	14
chr3	195779396	195779396	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12184A:p.A4062T,	.	.	721	773	10	13	5	41	0.022756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.0	B	.	.	1.000	P	0.55	N	1.1	T	-1.022	T	0.049	T	0.041	-1.082	0.160	.	-0.417	-0.026	2.145	0.018	.	.	0.00658946	0.0004	0.0016	0	0.0122	0	0.0006	0	0	0.0087214	227	26028	rs1045994646	0.0023	0.0034	0.0020	0.0026	0.0070	0.0022	0.0021	0.0059	0.0057	0.0012	0.0023	0.0127	0.0070	0.0009	0.0018	0.0015	0.0033	0.0065	0.0005	0.0066	0.0005	0.0006	0.0018	0.0004	0.0003	0.0005	0.0003	0.0004	0	0.0002	0.0010	0	0.0010	0	0.0006	0	0.0018	0.381	0.11156	T	0.32	0.19421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	1.09	0.39223	T	0.15	0.05310	N	0.027	0.01911	-1.0217	0.23162	T	0.049	0.20947	T	6	0.004883051	0.00104	T	.	.	.	0.018	0.03083	.	.	0.0138822411134	0.00435	8.859181890935445E-4	0.00081	.	.	0.561056256294	0.47417	T	.	.	.	-0.33961	0.05414	T	-0.725603	0.04530	T	0.00650792362145855	0.00073	T	0.644935	0.25655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.;.	.;.	-0.182403	0.03181	0.522	0.11935079734247947	0.00193	0.00048	0.00378	N	AEFBI	0.042374	0.06568	N	-1.28913511390244	0.03805	0.1706414	-1.40577124198539	0.03194	0.1484848	1.87232314028135E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.704000	0.05160	-4.490000	0.02130	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3304:0.3444:0.3251	2.145	0.03553	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1364	1870.85	193	chr3	195779396	.	C	T	1870.85	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-2.859e+00;DP=3676;ExcessHet=0.5115;FS=4.062;InbreedingCoeff=0.1600;MLEAC=5;MLEAF=0.227;MQ=57.91;MQRankSum=-1.311e+01;QD=2.58;ReadPosRankSum=3.40;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,15:211:40:0|1:195779356_C_G:40,0,8175:195779356	8	0	3	10
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	159.86	193	chr3	195779400	.	A	T,*	159.86	.	AC=2,9;AF=0.071,0.321;AN=28;BaseQRankSum=-3.875e+00;DP=4316;ExcessHet=1.5306;FS=0.000;InbreedingCoeff=0.0793;MLEAC=3,12;MLEAF=0.107,0.429;MQ=58.96;MQRankSum=-1.218e+01;QD=0.07;ReadPosRankSum=3.26;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,15,0:203:64:0|1:195779356_C_G:64,0,7818,630,7864,8493:195779356	5	0	2	7
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	75722.94	215	chr3	195779882	.	G	C,*	75722.94	.	AC=18,8;AF=0.692,0.308;AN=26;BaseQRankSum=0.967;DP=4540;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5960;MLEAC=26,12;MLEAF=1.00,0.462;MQ=59.69;MQRankSum=-2.320e-01;QD=23.33;ReadPosRankSum=-5.600e-02;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,201,0:202:99:.:.:6566,603,0,6570,606,6606	0	7	0	8
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	55203.73	406	chr3	195780499	.	G	A,*	55203.73	.	AC=12,7;AF=0.300,0.175;AN=40;BaseQRankSum=-3.310e-01;DP=8546;ExcessHet=0.5442;FS=0.529;InbreedingCoeff=0.0726;MLEAC=12,7;MLEAF=0.300,0.175;MQ=54.22;MQRankSum=-2.440e-01;QD=9.13;ReadPosRankSum=-4.044e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:152,306,0:458:99:.:.:11603,0,5296,7045,6200,12428	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	0/2:146,0,303:449:99:.:.:11495,6919,12151,0,6046,5147	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	0/1:133,292,0:425:99:.:.:11077,0,4695,6441,5563,11187	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	0/2:126,0,372:498:99:.:.:11159,6455,10867,0,5237,4305	5	1	3	6
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	0/1:297,129,0:426:99:.:.:3009,0,10049,3902,10435,14336	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	0/1:149,313,0:462:99:.:.:11726,0,5175,12174,6081,18255	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	0/1:148,296,0:444:99:.:.:11331,0,5172,11777,6039,17815	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|1:430,76,0:506:99:0|1:195781128_A_T:1802,0,17704,3097,17933,21029:195781128	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	0/2:402,0,56:460:99:.:.:1087,2350,17275,0,15619,17347	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	0/2:402,0,56:460:99:.:.:1087,2350,17275,0,15619,17347	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|1:408,51,0:459:99:0|1:195781128_A_T:913,0,16908,2141,17061,19203:195781128	7	0	12	1
chr3	195781570	195781666	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	441	758	314	1	8	324	0.172489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16107.51	556	chr3	195781570	.	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	G,*	16107.51	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=2.83;DP=10262;ExcessHet=5.0857;FS=9.641;InbreedingCoeff=-0.3187;MLEAC=12,2;MLEAF=0.333,0.056;MQ=55.78;MQRankSum=-1.803e+00;QD=2.85;ReadPosRankSum=-4.685e+00;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:529,61,0:590:99:.:.:840,0,21732,2631,21193,25652	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	0/2:529,0,61:590:99:.:.:840,2631,25652,0,21193,21732	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|1:396,106,0:504:99:0|1:195781579_GGGC_*:3157,0,16205,4318,16510,20902:195781579	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|1:396,106,0:504:99:0|1:195781579_GGGC_*:3157,0,16205,4318,16510,20902:195781579	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|2:396,0,106:504:99:0|1:195781579_GGGC_*:3157,4318,20902,0,16510,16205:195781579	5	0	1	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|1:383,63,33,0:479:99:0|1:195781522_A_G:1498,0,15885,1377,14807,17558,2668,16095,17566,18839:195781522	5	0	9	4
chr3	195781605	195781605	G	0	exonic	MUC4	.	.	.	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:368,63,25:456:99:0|1:195781522_A_G:1542,0,15190,1636,14237,16997:195781522	7	0	9	4
chr3	195781605	195781605	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9975G:p.H3325Q,	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	B	0.0	B	.	.	1.000	N	0	N	1.64	T	-0.994	T	0.028	T	0.045	0.133	4.714	-1.18	0.494	-0.453	3.491	0.026	0.000701924505054	.	.	0.0038	0.0092	0.0027	0.0065	0.0074	0.0033	0.0060	0.0021	0.0005757	89	154602	rs368202391	0.0002	0.0009	0.0002	0.0002	0.0019	0.0002	0.0002	0.0012	0.0009	0.0005	0.0002	0.0001	0.0019	0.0010	0.0008	0.0002	0.0002	0.0007	0.0015	0.0080	0.0013	0.0018	0.0040	0.0013	0.0013	0.0022	0.0017	0.0008	0	0.0024	0.0027	0.0040	0.0035	0	0.0012	0.0025	0.0038	0.359	0.11957	T	0.549	0.09457	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.28002	T	-0.58	0.20358	N	0.126	0.14054	-0.9936	0.31670	T	0.028	0.12103	T	8	0.0067867637	0.00154	T	7.02E-4	0.00435	T	0.026	0.05648	0.259	0.20159	0.0138822411134	0.00435	0.0013358041139753607	0.00123	.	.	0.487636059523	0.37111	T	.	.	.	-0.38784	0.02778	T	-0.794882	0.02034	T	0.00525087148980338	0.00057	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24566	B	.;.	.;.	0.541304	0.09098	5.882	0.71700136203587272	0.09718	0.00069	0.00489	N	AEFBI	0.058666	0.11023	N	-1.28472862471283	0.03858	0.1731374	-1.36847136025834	0.03593	0.1679022	1.34692826708022E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	-1.18	0.09122	-0.199000	0.09493	-3.178000	0.02995	-1.076000	0.01581	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.5572:0.4428	3.491	0.07201	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:368,63,25:456:99:0|1:195781522_A_G:1542,0,15190,1636,14237,16997:195781522	7	0	9	4
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	64803.77	402	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*,G	64803.77	.	AC=5,12;AF=0.147,0.353;AN=34;BaseQRankSum=0.785;DP=8138;ExcessHet=1.0760;FS=0.000;InbreedingCoeff=-0.0359;MLEAC=6,14;MLEAF=0.176,0.412;MQ=54.52;MQRankSum=-7.229e+00;QD=12.85;ReadPosRankSum=0.031;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:258,63,144:465:99:.:.:5100,3142,14965,0,8000,10117	4	0	1	4
chr3	195781620	195781620	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	317.18	402	chr3	195781620	.	T	*,C	317.18	.	AC=15,3;AF=0.441,0.088;AN=34;BaseQRankSum=0.368;DP=7754;ExcessHet=0.4630;FS=2.515;InbreedingCoeff=0.0667;MLEAC=17,3;MLEAF=0.500,0.088;MQ=54.29;MQRankSum=-9.995e+00;QD=0.07;ReadPosRankSum=-1.613e+00;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,214,15:424:99:0|1:195781522_A_G:7952,0,7523,7994,7603,17133:195781522	4	2	8	4
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	58454.87	402	chr3	195781628	.	C	T,*	58454.87	.	AC=10,20;AF=0.250,0.500;AN=40;BaseQRankSum=2.39;DP=7718;ExcessHet=6.5132;FS=0.581;InbreedingCoeff=-0.3333;MLEAC=10,21;MLEAF=0.250,0.525;MQ=55.94;MQRankSum=-1.348e+00;QD=8.67;ReadPosRankSum=0.131;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:197,7,214:418:99:0|1:195781522_A_G:7934,8268,16824,0,7943,7684:195781522	0	3	3	1
chr3	195781789	195781789	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9791G:p.S3264C	.	.	.	.	.	.	.	.	.	.	.	2825223	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.994	D	0.962	D	.	.	1.000	N	0.345	N	1.35	T	-1.046	T	0.089	T	0.101	0.205	5.105	1.03	0.494	0.294	5.394	0.028	.	.	.	0.0028	0.0335	0.0047	0	0	0.0003	0	0.0002	.	.	.	rs1260213383	0.0004	0.0009	0.0004	0.0003	0.0075	0.0003	0.0003	0.0066	0.0062	0.0075	0.0006	0.0003	9.515e-05	0	0.0026	0.0001	0.0009	1.93e-05	0.0011	0.0056	0.0013	0.0010	0.0037	0.0010	0.0009	0.0031	0.0028	0.0037	0	0.0008	0.0006	0	0	0	0.0001	0.0018	0	0.036	0.43393	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	1.35	0.35960	T	-0.52	0.20358	N	0.058	0.03392	-1.0464	0.15418	T	0.089	0.34325	T	8	0.0056270957	0.00125	T	.	.	.	0.028	0.06331	0.229	0.15556	0.0297737177859	0.01360	0.001013548136499485	0.00093	.	.	0.469768941402	0.34648	T	.	.	.	-0.293953	0.09243	T	-0.660019	0.08265	T	0.0111137903727331	0.00162	T	0.822818	0.48291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.45918	B	.;.	.;.	1.908544	0.24238	16.32	0.59381222538087186	0.06211	0.00993	0.03770	N	AEFBI	0.089943	0.18228	N	-0.609396956545462	0.18661	0.9706224	-0.852740611599318	0.13221	0.6847116	1.65442328437548E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	-0.438000	0.06975	0.729000	0.21072	0.093000	0.17603	0.000000	0.06391	0.001000	0.17328	0.005000	0.06747	0.0:0.0:1.0:0.0	5.394	0.15560	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:161,0,88:249:99:0|1:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:821,1491,8722,0,6279,6003:195781775	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|2:161,0,88:249:99:0|1:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:821,1491,8722,0,6279,6003:195781775	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|2:161,0,88:249:99:0|1:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:821,1491,8722,0,6279,6003:195781775	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|2:161,0,88:249:99:0|1:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:821,1491,8722,0,6279,6003:195781775	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|2:121,0,79:203:99:1|0:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:1480,1784,7192,0,5152,4932:195781775	6	0	1	1
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	57440.95	642	chr3	195782558	.	A	G,*	57440.95	.	AC=9,4;AF=0.300,0.133;AN=30;BaseQRankSum=-2.341e+00;DP=9169;ExcessHet=0.9330;FS=0.571;InbreedingCoeff=0.1246;MLEAC=12,5;MLEAF=0.400,0.167;MQ=56.40;MQRankSum=-5.591e+00;QD=11.79;ReadPosRankSum=1.28;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:195,141,130:466:99:.:.:5892,741,5785,0,2019,9855	5	1	5	6
chr3	195782572	195782572	A	0	exonic	MUC4	.	.	.	.	.	613	867	19	6	17	48	0.0175637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	4722.96	605	chr3	195782572	.	A	*,G	4722.96	.	AC=4,2;AF=0.182,0.091;AN=22;BaseQRankSum=5.52;DP=8908;ExcessHet=2.2993;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=6,3;MLEAF=0.273,0.136;MQ=55.81;MQRankSum=-1.087e+01;QD=1.68;ReadPosRankSum=-9.100e-01;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:369,130,0:499:99:0|1:195782557_G_*:3624,0,15688,4529,14799,20220:195782557	5	0	4	10
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	11928.07	612	chr3	195782605	.	A	*,AGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAG	11928.07	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=-3.569e+00;DP=8646;ExcessHet=0.4362;FS=1.176;InbreedingCoeff=-0.0256;MLEAC=6,5;MLEAF=0.273,0.227;MQ=55.03;MQRankSum=-9.332e+00;QD=5.50;ReadPosRankSum=-3.846e+00;SOR=0.586	GT:AD:DP:GQ:PL	0/1:155,126,30:318:99:3200,0,14334,1130,2670,6425	5	0	3	10
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	0/2:329,12,282:623:99:.:.:1628,2863,19969,0,12257,11875	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	0/1:325,282,15:622:99:.:.:1666,0,11759,2453,9722,14240	6	0	5	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|2:379,2,343:724:99:0|1:195783051_T_*:2154,3288,19327,0,15859,15362:195783051	5	0	6	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	0/1:189,167,343:699:99:.:.:6267,0,7251,3595,4499,11861	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|1:368,343,3:714:99:0|1:195783051_T_*:2189,0,14872,3284,15374,18865:195783051	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	0/1:185,171,343:699:99:.:.:6433,0,7047,3689,4299,11624	3	2	9	5
chr3	195783321	195783321	A	0	exonic	MUC4	.	.	.	.	.	442	1046	17	2	15	36	0.00993848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	2018.88	349	chr3	195783321	.	A	C,*	2018.88	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-6.330e-01;DP=4536;ExcessHet=0.0090;FS=0.891;InbreedingCoeff=0.1362;MLEAC=1,3;MLEAF=0.038,0.115;MQ=56.98;MQRankSum=1.48;QD=4.67;ReadPosRankSum=-7.920e-01;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:327,71,0:398:99:0|1:195783321_A_C:2029,0,12634,2973,11927,14562:195783321	10	0	1	8
chr3	195783323	195783323	G	0	exonic	MUC4	.	.	.	.	.	0	218	3	0	5	8	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	2117.88	340	chr3	195783323	.	G	C,*	2117.88	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-4.523e+00;DP=4466;ExcessHet=0.0090;FS=0.000;InbreedingCoeff=0.1362;MLEAC=1,3;MLEAF=0.038,0.115;MQ=57.00;MQRankSum=1.65;QD=4.87;ReadPosRankSum=0.527;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:327,74,0:401:99:0|1:195783321_A_C:2128,0,12625,3077,11927,14674:195783321	10	0	1	8
chr3	195783326	195783470	GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA	0	exonic	MUC4	.	.	.	.	.	434	1017	25	28	18	99	0.0382979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1673.38	262	chr3	195783326	.	GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA	G,*	1673.38	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.756;DP=3915;ExcessHet=0.0082;FS=28.612;InbreedingCoeff=0.3997;MLEAC=1,3;MLEAF=0.024,0.071;MQ=54.54;MQRankSum=1.49;QD=8.16;ReadPosRankSum=4.44;SOR=2.081	GT:AD:DP:GQ:PL	0/1:116,50,0:166:99:1687,0,4671,2206,5170,10562	18	0	1	0
chr3	195783327	195783327	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	108.87	262	chr3	195783327	.	G	*,A	108.87	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=0.136;DP=3801;ExcessHet=0.0000;FS=25.966;InbreedingCoeff=0.6901;MLEAC=4,1;MLEAF=0.100,0.025;MQ=54.18;MQRankSum=2.52;QD=0.43;ReadPosRankSum=1.79;SOR=1.790	GT:AD:DP:GQ:PL	0/1:116,50,0:166:99:1687,0,4671,2206,5170,10562	17	1	1	1
chr3	195783332	195783332	T	0	exonic	MUC4	.	.	.	.	.	445	998	16	0	63	79	0.00795229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	240.71	262	chr3	195783332	.	T	*,C	240.71	.	AC=4,1;AF=0.111,0.028;AN=36;BaseQRankSum=-1.199e+00;DP=3639;ExcessHet=0.0000;FS=34.661;InbreedingCoeff=0.6077;MLEAC=5,1;MLEAF=0.139,0.028;MQ=52.86;MQRankSum=0.066;QD=0.96;ReadPosRankSum=-1.151e+00;SOR=1.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:116,50,0:166:99:.:.:1687,0,4671,2206,5170,10562	15	1	1	3
chr3	195783335	195783335	C	0	exonic	MUC4	.	.	.	.	.	452	969	39	0	62	101	0.0197269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	159.71	262	chr3	195783335	.	C	G,*	159.71	.	AC=1,4;AF=0.028,0.111;AN=36;BaseQRankSum=0.00;DP=3593;ExcessHet=0.0000;FS=18.458;InbreedingCoeff=0.6077;MLEAC=1,5;MLEAF=0.028,0.139;MQ=52.45;MQRankSum=1.21;QD=0.49;ReadPosRankSum=1.07;SOR=1.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:116,0,50:166:99:.:.:1687,2206,10562,0,5170,4671	15	0	0	3
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	1|2:1,302,85:388:99:0|1:195783321_A_C:7166,2992,2685,4473,0,12292:195783321	0	1	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|1:337,134,0:471:99:0|1:195783836_T_G:4649,0,13683,5663,14125,19789:195783836	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|1:354,125,0:479:99:0|1:195783836_T_G:4240,0,14424,5305,14857,20162:195783836	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	0/2:167,120,134,0,0:423:99:.:.:9977,811,9660,0,1687,6169,7683,7756,6797,14410,7683,7756,6797,14410,14410	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	0/1:363,184,0:547:99:.:.:6355,0,14533,7447,15086,22533	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	0/1:346,195,0:541:99:.:.:6863,0,10115,7893,10700,18593	2	0	15	3
chr3	195784299	195784299	T	0	exonic	MUC4	.	.	.	.	.	418	1069	19	1	15	36	0.00972673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3166.6	878	chr3	195784299	.	T	G,*	3166.6	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=-3.583e+00;DP=17640;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0959;MLEAC=1,1;MLEAF=0.029,0.029;MQ=59.59;MQRankSum=2.22;QD=1.81;ReadPosRankSum=-1.026e+00;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:700,192,0:892:99:1|0:195784271_T_C:3179,0,21998,5277,22573,27850:195784271	15	0	1	4
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5294	123606.13	363	chr3	195784652	.	C	G,*	123606.13	.	AC=16,4;AF=0.471,0.118;AN=34;BaseQRankSum=1.37;DP=11220;ExcessHet=2.7716;FS=0.566;InbreedingCoeff=-0.1110;MLEAC=19,5;MLEAF=0.559,0.147;MQ=55.09;MQRankSum=-1.168e+01;QD=15.32;ReadPosRankSum=-3.180e-01;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,174,0:386:99:0|1:195784652_C_G:6508,0,8354,7146,8878,16024:195784652	2	3	8	4
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	117318.88	370	chr3	195784654	.	T	C,*	117318.88	.	AC=16,3;AF=0.471,0.088;AN=34;BaseQRankSum=1.41;DP=11323;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=19,4;MLEAF=0.559,0.118;MQ=54.70;MQRankSum=-1.241e+01;QD=16.09;ReadPosRankSum=-3.410e-01;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,175,0:390:99:0|1:195784652_C_G:6541,0,8437,7188,8963,16151:195784652	3	3	8	4
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4706	108863.73	369	chr3	195784655	.	C	*,T	108863.73	.	AC=4,15;AF=0.118,0.441;AN=34;BaseQRankSum=2.58;DP=11307;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=5,17;MLEAF=0.147,0.500;MQ=54.71;MQRankSum=-1.230e+01;QD=14.80;ReadPosRankSum=-4.320e-01;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:215,0,176:391:99:0|1:195784652_C_G:6583,7230,16193,0,8963,8434:195784652	3	0	1	4
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	181902.03	501	chr3	195784719	.	A	G,*	181902.03	.	AC=18,3;AF=0.600,0.100;AN=30;BaseQRankSum=-5.120e-01;DP=14927;ExcessHet=7.4688;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=23,4;MLEAF=0.767,0.133;MQ=57.00;MQRankSum=-5.969e+00;QD=19.43;ReadPosRankSum=-2.732e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:242,309,0:551:99:0|1:195784652_C_G:10692,0,7751,11419,8681,20100:195784652	0	4	8	6
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,626,0:626:99:.:.:19479,1875,0,19353,1871,21461	0	19	0	0
chr3	195785374	195785374	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	431121.8	754	chr3	195785374	.	T	C,*	431121.8	.	AC=36,1;AF=0.857,0.024;AN=42;BaseQRankSum=1.92;DP=14531;ExcessHet=1.1607;FS=1.262;InbreedingCoeff=-0.1351;MLEAC=36,1;MLEAF=0.857,0.024;MQ=56.84;MQRankSum=-6.000e-01;QD=31.27;ReadPosRankSum=1.39;SOR=0.348	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,657,0:659:99:.:.:20294,1952,0,20299,1966,20313	0	15	5	0
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	3246.35	24	chr3	195787238	.	C	A,*	3246.35	.	AC=16,3;AF=0.421,0.079;AN=38;BaseQRankSum=1.49;DP=300;ExcessHet=2.6629;FS=47.055;InbreedingCoeff=-0.1962;MLEAC=18,3;MLEAF=0.474,0.079;MQ=37.84;MQRankSum=1.47;QD=13.47;ReadPosRankSum=-3.110e-01;SOR=1.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,5,0:17:99:0|1:195787233_T_A:174,0,489,210,504,714:195787233	4	2	10	2
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2873.59	19	chr3	195787273	.	T	*,C	2873.59	.	AC=4,15;AF=0.100,0.375;AN=40;BaseQRankSum=-3.190e-01;DP=324;ExcessHet=0.7352;FS=61.659;InbreedingCoeff=-0.0399;MLEAC=5,17;MLEAF=0.125,0.425;MQ=37.78;MQRankSum=1.27;QD=11.54;ReadPosRankSum=-6.730e-01;SOR=0.049	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,0,6:25:99:0|1:195787233_T_A:184,241,996,0,755,736:195787233	6	0	1	1
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	1237.73	147	chr3	195787579	.	G	A,*	1237.73	.	AC=2,13;AF=0.071,0.464;AN=28;DP=1766;ExcessHet=0.0393;FS=10.568;InbreedingCoeff=0.2243;MLEAC=3,17;MLEAF=0.107,0.607;MQ=51.08;QD=1.06;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:183,0,30:213:99:0|1:195787508_T_C:709,1260,8936,0,7676,7585:195787508	4	1	0	7
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	923.51	147	chr3	195787584	.	A	G,*	923.51	.	AC=2,13;AF=0.077,0.500;AN=26;DP=1759;ExcessHet=0.0610;FS=9.265;InbreedingCoeff=0.2100;MLEAC=3,18;MLEAF=0.115,0.692;MQ=48.44;QD=0.79;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:183,0,30:213:99:0|1:195787508_T_C:709,1260,8936,0,7676,7585:195787508	3	1	0	8
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:183,0,30:213:99:0|1:195787508_T_C:709,1260,8936,0,7676,7585:195787508	5	1	0	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:183,0,30:213:99:0|1:195787508_T_C:709,1260,8936,0,7676,7585:195787508	5	1	0	6
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	6578.57	769	chr3	195788132	.	T	C,*	6578.57	.	AC=7,3;AF=0.219,0.094;AN=32;BaseQRankSum=4.36;DP=5689;ExcessHet=7.5380;FS=5.019;InbreedingCoeff=-0.3295;MLEAC=9,4;MLEAF=0.281,0.125;MQ=54.21;MQRankSum=-8.605e+00;QD=1.86;ReadPosRankSum=1.06;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,38,0:254:99:0|1:195788077_G_A:945,0,8932,1596,9046,10642:195788077	6	0	7	5
chr3	195788146	195788146	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3077	5085.53	769	chr3	195788146	.	A	G,*	5085.53	.	AC=6,2;AF=0.231,0.077;AN=26;BaseQRankSum=5.31;DP=5652;ExcessHet=4.3158;FS=6.139;InbreedingCoeff=-0.2994;MLEAC=8,3;MLEAF=0.308,0.115;MQ=54.57;MQRankSum=-9.562e+00;QD=1.82;ReadPosRankSum=-6.330e-01;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,35,0:288:99:0|1:195788077_G_A:708,0,10518,1470,10623,12093:195788077	5	0	6	8
chr3	195788160	195788160	G	0	exonic	MUC4	.	.	.	.	.	491	837	111	0	83	194	0.0621849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3337.77	769	chr3	195788160	.	G	A,*	3337.77	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=4.67;DP=6056;ExcessHet=4.3158;FS=5.294;InbreedingCoeff=-0.2121;MLEAC=7,2;MLEAF=0.219,0.063;MQ=55.72;MQRankSum=-1.019e+01;QD=1.10;ReadPosRankSum=-3.087e+00;SOR=1.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:304,30,0:334:99:0|1:195788077_G_A:345,0,12662,1260,12752,14012:195788077	8	0	6	5
chr3	196886230	196886230	G	A	exonic	SENP5	.	nonsynonymous SNV	SENP5:NM_001308045:exon2:c.G1049A:p.G350D	.	.	429	1046	46	1	0	48	0.0224299	.	.	698002	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.994	D	0.852	P	0.041	N	1.000	D	0.975	L	1.33	T	-0.958	T	0.135	T	0.885	3.577	18.23	5.4	2.691	4.337	15.055	0.176	.	0.0032	0.00339457	0.0053	0.0009	0.0016	0	0.0021	0.0048	0.0088	0.0165	0.0049999	773	154602	rs34326043	0.0052	0.0052	0.0049	0.0056	0.0177	0.0051	0.0051	0.0169	0.0166	0.0008	0.0017	0.0050	0	0.0032	0.0083	0.0048	0.0051	0.0177	0.0032	0.0032	0.0032	0.0032	0.0135	0.0029	0.0028	0.0108	0.0099	0.0008	0	0.0027	0.0063	0.0002	0.0013	0.0034	0.0043	0.0052	0.0135	0.001	0.78490	D	0.006	0.70582	D	0.986	0.61523	D	0.674	0.53247	P	0.041470	0.23946	N	0.433434	0.999835	0.81001	D	2.215	0.62545	M	1.33	0.35031	T	-0.81	0.25551	N	0.795	0.79118	-0.9580	0.39552	T	0.135	0.44914	T	10	0.005043119	0.00109	T	.	.	.	0.176	0.44373	.	.	0.525266285433	0.52174	0.28638960740791314	0.28551	0.641594467787	0.57746	0.427772462368	0.28904	T	0.009012	0.08229	T	-0.104752	0.35636	T	0.0897279	0.76226	D	0.0123640726748312	0.00202	T	0.868713	0.57175	D	0.35352296	0.57340	0.3804287	0.63075	0.35352296	0.57340	0.3804287	0.63075	-3.584	0.18641	T	.	.	0.223	0.45446	B	.;.	.;.	3.994106	0.58801	24.0	0.99785734057949749	0.87219	0.95368	0.64448	D	AEFDBCI	0.539764	0.55661	D	0.558107321876487	0.70576	5.522001	0.599793899831518	0.74926	6.220836	0.999999997546957	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	4.489000	0.60035	9.937000	0.82626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	15.055	0.71577	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1520.98	39	chr3	196886230	.	G	A	1520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.120e-01;DP=882;ExcessHet=0.0000;FS=3.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=1.61;SOR=0.764	GT:AD:DP:GQ:PL	0/1:98,63:161:99:1535,0,2741	20	0	1	0
chr4	2208153	2208153	C	A	exonic	POLN	.	nonsynonymous SNV	POLN:NM_181808:exon5:c.G548T:p.G183V,	.	.	439	1076	7	0	0	7	0.00324224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.002	B	0.004	B	0.037	N	1.000	N	0	N	3.67	T	-0.958	T	0.009	T	0.192	1.178	9.791	1.55	-0.039	-0.018	4.525	0.011	0.00486440235815	0.0002	0.000399361	0.0005	0	0.0004	0	0	0.0007	0.0022	0.0003	0.0004851	75	154602	rs145476355	0.0003	0.0003	0.0003	0.0004	0.0061	0.0003	0.0003	0.0045	0.0039	0.0005	0.0004	0.0055	0	0	0.0061	0.0002	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0002	0.0002	7.218e-05	0	0.0004	0.0055	0	0	0.0136	0.0003	0.0005	0.0004	0.022	0.48642	D	0.224	0.25591	T	0.002	0.09854	B	0.002	0.06944	B	0.037286	0.01831	N	1.961470	1	0.08975	N	0	0.06538	N	3.67	0.04188	T	0.28	0.04233	N	0.109	0.09490	-0.9578	0.39589	T	0.009	0.03403	T	10	0.0064322352	0.00146	T	0.004864	0.12192	T	0.011	0.01250	.	.	0.213573922156	0.20996	0.2078983465201546	0.20705	0.0941472671673	0.10632	0.219302907586	0.01270	T	0.001787	0.01205	T	-0.5354	0.00357	T	-0.666293	0.07848	T	0.0106703783804796	0.00150	T	0.304969	0.05824	T	0.047347385	0.08078	0.062223263	0.12138	0.047347385	0.08078	0.062223263	0.12138	-3.459	0.15863	T	.	.	0.076	0.07272	B	.;.	.;.	0.380614	0.07526	4.173	0.84431217527668567	0.15288	0.01763	0.05540	N	AEFI	0.060293	0.11448	N	-1.21011174215368	0.04852	0.2198662	-1.18068658858636	0.06232	0.2993641	1.23107835998426E-4	0.05386	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.27	1.55	0.22356	0.035000	0.13685	0.858000	0.22201	-0.229000	0.07765	0.001000	0.13787	0.230000	0.23777	0.058000	0.15825	0.0819:0.3097:0.4678:0.1406	4.525	0.11382	618	0.66225	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	905.98	34	chr4	2208153	.	C	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=790;ExcessHet=0.0000;FS=0.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=-2.290e-01;SOR=0.651	GT:AD:DP:GQ:PL	0/1:51,33:84:99:920,0,1371	20	0	1	0
chr4	2304695	2304695	G	A	exonic	ZFYVE28	.	nonsynonymous SNV	ZFYVE28:NM_001172656:exon7:c.C1555T:p.P519S	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.002	B	0.132	N	1.000	D	-1.155	N	0.52	T	-0.929	T	0.036	T	0.056	-0.021	3.906	-7.02	-1.634	0.061	3.471	0.108	0.0318257990511	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173469192	9.587e-06	9.577e-06	1.499e-05	4.13e-06	1.16e-05	5.56e-06	4.35e-06	5.76e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.483	0.11795	T	0.001	0.12183	B	0.001	0.06944	B	0.131522	0.02812	N	1.787970	1	0.08975	N	-1.795	0.00292	N	0.49	0.55775	T	-1.22	0.30964	N	0.045	0.01740	-0.9291	0.44270	T	0.036	0.15334	T	10	0.018920451	0.00416	T	0.031826	0.53814	D	0.108	0.30607	0.083	0.00760	0.158540857583	0.15491	0.22120886381997534	0.22035	0.0446812176792	0.04828	0.238459214568	0.02653	T	0.003428	0.02839	T	-0.310239	0.07727	T	-0.683413	0.06777	T	0.0761929930526001	0.09493	T	0.654235	0.26451	T	0.021792248	0.00802	0.041105717	0.04597	0.021792248	0.00802	0.041105717	0.04597	-3.303	0.14285	T	.	.	0.057	0.05360	B	.;.;.	.;.;.	-0.894172	0.00935	0.036	0.90709433690000707	0.19960	0.02981	0.07832	N	AEFBI	0.062020	0.11895	N	-1.63602413402654	0.01095	0.04753957	-1.63931461358868	0.01432	0.06475107	0.998889715486014	0.37891	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.01	-7.02	0.01433	-0.031000	0.12237	-0.227000	0.10711	-0.169000	0.11342	0.002000	0.15269	0.000000	0.08366	0.046000	0.14843	0.5852:0.107:0.102:0.2058	3.471	0.07132	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1641.98	37	chr4	2304695	.	G	A	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.994;DP=1265;ExcessHet=0.0000;FS=4.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=-1.414e+00;SOR=0.490	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1656,0,1471	20	0	1	0
chr4	2662992	2662992	G	C	splicing	FAM193A	NM_001366316:exon11:c.1728+1G>C;NM_001366318:exon11:c.1899+1G>C;NM_001256666:exon9:c.1026+1G>C;NM_001256667:exon10:c.1092+1G>C;NM_003704:exon9:c.1026+1G>C;NM_001256668:exon9:c.1026+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.076	16.27	5.94	2.820	8.776	19.362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192e-06	0.0001	4.102e-06	8.307e-06	8.147e-06	2.91e-06	2.11e-06	3.83e-06	2.78e-06	0	0	0	0	0	0	8.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278694	0.81204	D	0.162548	0.80963	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.228451	0.87761	29.4	0.99446033122521582	0.65021	0.97690	0.76437	D	AEFBCI	.	.	.	1.17962989754767	0.99342	22.03292	1.0229923532359	0.99025	20.32474	0.999999999999954	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.087121	0.02386	0	0.975606	0.78585	5.94	5.94	0.96165	8.898000	0.92168	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.0:1.0:0.0	19.362	0.94432	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	531.26	142	chr4	2662992	.	G	C	531.26	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.826e+00;DP=2064;ExcessHet=1.7912;FS=200.882;InbreedingCoeff=-0.2447;MLEAC=7;MLEAF=0.206;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.827;SOR=11.598	GT:AD:DP:GQ:PL	0/1:73,26:99:27:27,0,1224	11	0	6	4
chr4	2696483	2696483	G	A	exonic	FAM193A	.	nonsynonymous SNV	FAM193A:NM_001256666:exon16:c.G2524A:p.V842I	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.153	B	0.017	B	0.000	D	1.000	D	1.59	L	1.73	T	-1.075	T	0.082	T	0.091	2.674	14.90	4.42	1.225	7.189	12.719	0.039	0.00839883582262	.	.	2.472e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs758641625	2.326e-05	2.326e-05	2.178e-05	2.475e-05	4.472e-05	1.674e-05	1.477e-05	1.83e-05	1.582e-05	2.987e-05	4.472e-05	0	0	1.872e-05	0	2.608e-05	0	1.159e-05	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0001	1.261e-05	7.98e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	2.94e-05	0.0005	0	0.059	0.41364	T	0.196	0.29843	T	0.066	0.28093	B	0.017	0.18140	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.935	0.51832	L	1.32	0.35590	T	-0.72	0.20358	N	0.306	0.38541	-1.0748	0.08390	T	0.082	0.32148	T	10	0.13361701	0.25430	T	0.008399	0.22231	T	0.039	0.10176	0.23	0.15705	0.0675242888579	0.06100	0.2853525383445503	0.28448	1.07010202158	0.76782	0.449056863785	0.31815	T	0.015864	0.19191	T	-0.324509	0.06535	T	-0.518008	0.20497	T	0.228325967701328	0.21872	T	0.794021	0.43594	T	0.09696867	0.22850	0.080216736	0.18127	0.09696867	0.22850	0.080216736	0.18127	-7.863	0.60838	D	.	.	0.091	0.13221	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.901048	0.38450	20.7	0.99163263419850356	0.54155	0.91682	0.54040	D	ALL	0.778285	0.71083	D	-0.168476162308607	0.34452	1.966605	-0.0985241867208637	0.35452	2.051217	1.0	0.98316	0.706548	0.73137	0	0.52208	0.09955	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	4.42	0.52775	7.304000	0.78201	5.841000	0.50249	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0792:0.0:0.9207:0.0	12.719	0.56503	628	0.65206	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1518.98	34	chr4	2696483	.	G	A	1518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=0.451;SOR=0.723	GT:AD:DP:GQ:PL	0/1:68,67:135:99:1533,0,1417	20	0	1	0
chr4	3074882	3074882	-	CAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAG:p.Q38_P39insQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,43,0,0,0,0:43:99:.:.:1919,1919,1919,131,131,0,1919,1919,131,1919,1919,1919,131,1919,1919,1919,1919,131,1919,1919,1919,1919,1919,131,1919,1919,1919,1919	3	1	1	0
chr4	3074880	3074882	CAG	-	exonic	HTT	.	nonframeshift deletion	HTT:NM_002111:exon1:c.55_57del:p.Q38del,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,43,0,0,0,0:43:99:.:.:1919,1919,1919,131,131,0,1919,1919,131,1919,1919,1919,131,1919,1919,1919,1919,131,1919,1919,1919,1919,1919,131,1919,1919,1919,1919	3	1	1	0
chr4	3074882	3074882	-	CAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAG:p.Q38_P39insQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,43,0,0,0,0:43:99:.:.:1919,1919,1919,131,131,0,1919,1919,131,1919,1919,1919,131,1919,1919,1919,1919,131,1919,1919,1919,1919,1919,131,1919,1919,1919,1919	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAG:p.Q38_P39insQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,43,0,0,0,0:43:99:.:.:1919,1919,1919,131,131,0,1919,1919,131,1919,1919,1919,131,1919,1919,1919,1919,131,1919,1919,1919,1919,1919,131,1919,1919,1919,1919	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAGCAG:p.Q38_P39insQQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,43,0,0,0,0:43:99:.:.:1919,1919,1919,131,131,0,1919,1919,131,1919,1919,1919,131,1919,1919,1919,1919,131,1919,1919,1919,1919,1919,131,1919,1919,1919,1919	3	1	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	0/1:104,44:148:99:338,0,2056	0	0	21	0
chr4	15003452	15003452	C	A	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.C779A:p.P260Q	.	.	404	1115	3	0	0	3	0.00134348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	.	.	.	.	.	.	1.000	N	0	N	0.58	T	-1.038	T	0.067	T	0.107	-1.406	0.022	-0.107	-0.227	-0.595	2.858	0.026	.	.	0.000798722	0.0104	0	0	.	.	0.0333	0.1	0.0067	0.0005045	78	154602	rs537061668	0.0065	0.0059	0.0065	0.0066	0.0071	0.0064	0.0064	0.0070	0.0069	0.0009	0.0022	0.0059	0	0.0097	0.0014	0.0071	0.0053	0.0021	0.0057	0.0057	0.0059	0.0054	0.0093	0.0054	0.0052	0.0087	0.0085	0.0018	0.0099	0.0014	0.0049	0	0.0082	0.0034	0.0093	0.0028	0.0027	0.278	0.15613	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.999784	0.20372	N	.	.	.	0.56	0.54540	T	-0.38	0.14000	N	0.115	0.11912	-1.0375	0.18078	T	0.067	0.27468	T	7	0.0047171116	0.00099	T	.	.	.	0.026	0.05648	.	.	0.151262610727	0.14761	0.16694878466902682	0.16614	0.296207634344	0.32004	0.813390254974	0.84013	D	.	.	.	-0.601185	0.00143	T	-0.625306	0.10773	T	0.00839786589639127	0.00101	T	.	.	.	.	.	.	.	.	.	.	.	-4.36	0.29010	T	.	.	0.067	0.13127	B	.;.	.;.	1.827806	0.23222	15.93	0.92489614042115387	0.21923	0.00749	0.03116	N	ALL	0.042349	0.06559	N	-0.707538709865783	0.15809	0.8000295	-0.788237943674239	0.14783	0.7742541	0.99999972090335	0.74766	0.623204	0.39778	0	0.218748	0.04544	0	0.378051	0.06126	2	0.249971	0.05119	0	.	.	2.09	-0.107	0.12930	-0.723000	0.05056	1.575000	0.27440	-0.584000	0.04686	0.000000	0.06391	1.000000	0.68203	0.794000	0.37478	0.4712:0.3624:0.0:0.1664	2.858	0.05235	579	0.69780	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	292.98	34	chr4	15003452	.	C	A	292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=798;ExcessHet=0.0000;FS=1.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-4.150e-01;SOR=0.340	GT:AD:DP:GQ:PL	0/1:15,11:26:99:307,0,375	20	0	1	0
chr4	44690732	44690732	G	A	exonic	GUF1	.	nonsynonymous SNV	GUF1:NM_001345869:exon11:c.G379A:p.E127K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.483	P	0.084	B	0.000	D	1.000	D	1.2	L	-0.44	T	-0.765	T	0.198	T	0.573	3.193	16.69	5.51	2.746	5.230	15.891	0.106	0.027228511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.21634	T	0.151	0.32355	T	0.483	0.36807	P	0.084	0.29270	B	0.000000	0.84330	D	0.044648	0.999997	0.58761	D	1.425	0.35738	L	-0.44	0.69777	T	-1.02	0.26843	N	0.678	0.68516	-0.7650	0.57132	T	0.198	0.55343	T	10	0.44480088	0.58328	T	0.027229	0.50063	D	0.106	0.30130	0.438	0.49157	0.842945499789	0.84144	0.7515191998654405	0.75098	0.132474847726	0.14931	0.59063744545	0.51583	T	0.084903	0.37382	T	0.0267813	0.55294	T	-0.199307	0.54712	T	0.888736486434937	0.53936	D	0.928407	0.73561	D	0.27672786	0.50733	0.27259743	0.53172	0.27672786	0.50733	0.27259743	0.53171	-5.787	0.44461	T	0.25379783692869345	0.34329	0.178	0.38924	B	.	.	3.892468	0.56649	23.8	0.99677755678728241	0.79043	0.98934	0.88834	D	AEFGBI	0.692350	0.65204	D	0.241992807260551	0.53243	3.494207	0.388038753990774	0.60825	4.274781	0.999999999721605	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.51	5.51	0.81769	5.334000	0.65697	11.725000	0.94886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1353:0.8647:0.0	15.891	0.79076	612	0.66786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	774.98	33	chr4	44690732	.	G	A	774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.640e-01;DP=760;ExcessHet=0.0000;FS=1.990;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=-6.300e-02;SOR=0.479	GT:AD:DP:GQ:PL	0/1:37,34:71:99:789,0,905	20	0	1	0
chr4	48067638	48067638	C	G	exonic	TXK	.	stoploss	TXK:NM_003328:exon15:c.G1583C:p.X528S,	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-0.205	3.005	3.21	0.383	0.494	12.452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.29294	0.09343	T	-0.658565	0.08363	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.584058	0.09523	6.302	0.66881994369223285	0.08189	0.82640	0.41840	D	AEFDBI	.	.	.	0.245509567436155	0.53418	3.51065	0.0102926123987032	0.40192	2.394748	0.341507473387616	0.19588	0.162113	0.03585	0	0.097471	0.02872	0	0.063197	0.01477	0	0.24566	0.04862	0	0.268177	0.33586	4.95	3.21	0.35933	0.375000	0.20248	0.305000	0.17021	-0.190000	0.09434	0.937000	0.32526	0.988000	0.31051	0.147000	0.20199	0.0:0.8491:0.0:0.1509	12.452	0.55022	442	0.79946	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1079.98	33	chr4	48067638	.	C	G	1079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.024e+00;DP=801;ExcessHet=0.0000;FS=3.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=-1.621e+00;SOR=0.428	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1094,0,1548	20	0	1	0
chr4	55959703	55959703	A	C	exonic	CEP135	.	nonsynonymous SNV	CEP135:NM_025009:exon6:c.A636C:p.E212D,	.	.	.	.	.	.	.	.	.	.	.	207122	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.997	D	0.885	P	0.000	D	0.996	D	2.54	M	0.6	T	-0.632	T	0.282	T	0.443	2.271	13.55	3.53	0.723	2.238	10.819	0.175	.	0.0002	0.00139776	0.0018	0	0	0.0023	0.0165	0.0012	0.0088	0.0003	0.0014812	229	154602	rs76941356	0.0008	0.0008	0.0008	0.0008	0.0042	0.0008	0.0008	0.0037	0.0035	0	2.236e-05	0	0.0042	0.0145	0.0002	0.0001	0.0013	0.0006	0.0015	0.0015	0.0007	0.0024	0.0037	0.0014	0.0013	0.0024	0.0020	0	0	0	0	0.0037	0.0182	0	0.0002	0	0.0014	0.116	0.29029	T	0.251	0.23638	T	0.997	0.70673	D	0.885	0.62825	P	0.000000	0.84330	D	0.052714	0.955715	0.43003	D	1.745	0.45235	L	0.6	0.53731	T	-2.0	0.46146	N	0.113	0.28732	-0.6319	0.63490	T	0.282	0.65350	T	10	0.00460732	0.00096	T	.	.	.	0.175	0.44197	0.099	0.01433	0.646850752827	0.64392	0.6351119569953729	0.63445	0.251755120529	0.27752	0.488244026899	0.37194	T	0.023593	0.17984	T	-0.396993	0.02423	T	-0.346394	0.39619	T	0.04095710092542	0.03863	T	0.80472	0.45334	T	0.17123732	0.37746	0.17740516	0.40340	0.16657594	0.37001	0.18162265	0.41036	-6.3	0.48722	T	.	.	0.182	0.39596	B	.;.	.;.	2.141521	0.27274	17.41	0.99129589597126089	0.53222	0.76127	0.37314	D	AEFBCI	0.184522	0.31185	N	0.176201410251694	0.50057	3.199559	0.17120673194429	0.48277	3.045764	0.016922862607621	0.12891	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.78	3.53	0.39533	2.252000	0.42849	3.563000	0.39095	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9234:0.0:0.0766:0.0	10.819	0.45795	756	0.51065	.;.	.	.	.	.	.	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	951.98	33	chr4	55959703	.	A	C	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.449e+00;DP=805;ExcessHet=0.0000;FS=2.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.14;ReadPosRankSum=-4.210e-01;SOR=0.454	GT:AD:DP:GQ:PL	0/1:71,46:117:99:966,0,1836	20	0	1	0
chr4	76778813	76778813	C	G	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon11:c.C5627G:p.S1876C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.08	M	1.39	T	-0.662	T	0.229	T	0.454	3.199	16.71	5.1	2.664	4.313	18.710	0.273	0.0319539014024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	2.726e-06	1.377e-06	.	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	4.981e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000125	0.49741	D	0.087556	0.999771	0.48980	D	2.375	0.68372	M	1.39	0.33842	T	-4.06	0.74582	D	0.4	0.44090	-0.6620	0.62188	T	0.229	0.59447	T	10	0.59825563	0.66765	D	0.031954	0.53910	D	0.273	0.58883	0.578	0.70347	0.289027227714	0.28505	0.3124690685352161	0.31159	1.02529329724	0.75255	0.562951624393	0.47684	T	0.29403	0.66672	T	-0.0405544	0.45866	T	-0.29603	0.45141	T	0.994166374206543	0.85300	D	0.920008	0.71084	D	0.48425344	0.66157	0.3684818	0.62137	0.48425344	0.66158	0.3684818	0.62137	-8.359	0.63491	D	.	.	0.114	0.24934	B	.;.	.;.	3.834066	0.55435	23.6	0.99139464395587895	0.53491	0.98914	0.88555	D	AEFBI	0.731266	0.67840	D	0.547794251636959	0.69948	5.430169	0.483533915266744	0.66900	5.012524	0.999999997574727	0.74766	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.1	5.1	0.68917	4.557000	0.60491	3.991000	0.40989	0.549000	0.26987	0.868000	0.30757	0.999000	0.35428	0.482000	0.28611	0.0:1.0:0.0:0.0	18.710	0.91617	769	0.49307	Apx/Shrm Domain 2|Apx/Shrm Domain 2;Apx/Shrm Domain 2|Apx/Shrm Domain 2	.	.	.	.	.	Uncertain significance	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	1441.98	36	chr4	76778813	.	C	G	1441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e-01;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.369;SOR=0.722	GT:AD:DP:GQ:PL	0/1:62,55:117:99:1456,0,1704	20	0	1	0
chr4	86753030	86753030	G	A	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_080683:exon20:c.G3188A:p.G1063E	.	.	4	1450	65	3	0	71	0.0238977	.	.	709495	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.24	T	0.897	P	0.624	P	0.001	U	1.000	D	1.78	L	0.75	T	-0.936	T	0.118	T	0.163	0.725	7.854	4.12	1.220	3.343	9.523	0.075	.	0.0051	0.00599042	0.0072	0.0016	0.0023	0.0001	0.0014	0.0058	0.0046	0.0257	0.0067593	1045	154602	rs61757792	0.0076	0.0077	0.0070	0.0081	0.0249	0.0074	0.0074	0.0240	0.0237	0.0012	0.0022	0.0079	7.603e-05	0.0018	0.0101	0.0071	0.0075	0.0249	0.0048	0.0049	0.0046	0.0050	0.0264	0.0045	0.0044	0.0226	0.0212	0.0014	0	0.0044	0.0069	0	0.0014	0	0.0064	0.0052	0.0264	0.072	0.34982	T	0.015	0.61642	D	0.897	0.49385	P	0.624	0.51529	P	0.001153	0.40056	U	0.000000	0.97235	0.81001	D	1.935	0.51832	L	0.75	0.51228	T	-2.13	0.48354	N	0.375	0.41952	-0.9357	0.43288	T	0.118	0.41451	T	10	0.007902771	0.00179	T	.	.	.	0.075	0.21907	.	.	0.631643887469	0.62863	0.36882168391493325	0.36796	0.0557682884687	0.06166	0.54100227356	0.44587	T	0.089488	0.38383	T	-0.472092	0.00825	T	-0.433318	0.29558	T	0.0327344485482899	0.02427	T	0.778122	0.41194	T	0.12600833	0.29525	0.18099791	0.40935	0.12600833	0.29525	0.18099791	0.40935	-3.895	0.22227	T	.	.	0.150	0.39477	B	.;.;.	.;.;.	4.097530	0.61070	24.3	0.86576947811205285	0.16629	0.82451	0.41677	D	AEFGBI	0.211529	0.33731	N	0.0797420084746258	0.45518	2.807024	0.0835819587956253	0.43722	2.66822	0.00666001195444328	0.11274	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	4.96	4.12	0.47504	3.392000	0.52279	11.824000	0.97325	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	0.1714:0.0:0.8286:0.0	9.523	0.38314	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3408.11	34	chr4	86753030	.	G	A	3408.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.05;DP=985;ExcessHet=0.1072;FS=1.903;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=0.791;SOR=0.615	GT:AD:DP:GQ:PL	0/1:74,77:151:99:1800,0,1804	19	0	2	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	0/1:17,27,0:44:99:629,0,393,681,474,1155	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	1|2:0,9,5:14:99:0|1:87615730_ATAG_A:903,209,181,398,0,352:87615730	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	1|2:0,9,5:14:99:0|1:87615730_ATAG_A:887,198,246,393,0,514:87615730	0	2	2	0
chr4	94662433	94662433	C	G	exonic	PDLIM5	.	nonsynonymous SNV	PDLIM5:NM_001256425:exon11:c.C622G:p.L208V	.	.	424	1090	8	0	0	8	0.00365631	.	.	2679121	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.968	D	0.000	D	1.000	D	2.495	M	-2.39	D	0.650	D	0.785	D	0.653	3.923	19.96	4.96	2.768	1.564	9.230	0.610	0.0943881906345	.	0.000199681	6.593e-05	9.61e-05	0	0	0	5.997e-05	0	0.0002	6.47e-05	10	154602	rs114255444	7.619e-05	7.257e-05	7.499e-05	7.738e-05	0.0032	6.404e-05	5.984e-05	0.0021	0.0017	0.0002	6.726e-05	0	0	0	0.0032	4.493e-05	0.0003	0.0002	4.599e-05	4.594e-05	5.14e-05	4.032e-05	0.0001	2.109e-05	1.527e-05	2.847e-05	1.858e-05	0	0	0.0001	0	0	0	0	7.351e-05	0	0	0.002	0.72154	D	0.037	0.74150	D	0.948	0.67487	P	0.812	0.67560	P	0.000041	0.55875	D	0.077207	1	0.81001	D	2.765	0.80766	M	-2.39	0.88377	D	-2.07	0.50012	N	0.654	0.67564	0.650	0.92549	D	0.785	0.92708	D	10	0.5017696	0.61590	D	0.094388	0.76243	D	0.610	0.84719	.	.	0.928294165333	0.92756	0.5240608340404989	0.52330	0.530212423702	0.50563	0.565879702568	0.48096	T	0.083596	0.86098	T	0.0178459	0.54090	T	0.047537	0.73421	D	0.499638348817825	0.32616	T	0.970103	0.90356	D	0.4697714	0.65276	0.42369685	0.66232	0.4697714	0.65276	0.42369685	0.66232	-11.3	0.81278	D	.	.	0.313	0.58611	B	.;.;.;.;.;.	.;.;.;.;.;.	4.670575	0.74647	26.2	0.99812836718519138	0.89620	0.96118	0.67615	D	AEFGBI	0.632619	0.61316	D	0.692393778031861	0.79133	7.01398	0.663576961320819	0.79625	7.122133	0.999999948087747	0.74766	0.706298	0.61202	0	0.53679	0.11191	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.85	4.96	0.65153	2.034000	0.40767	5.839000	0.50231	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.971000	0.54645	0.1463:0.7817:0.0:0.072	9.230	0.36596	872	0.31118	Zinc finger, LIM-type|Zinc finger, LIM-type;.;Zinc finger, LIM-type|Zinc finger, LIM-type;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1261.98	33	chr4	94662433	.	C	G	1261.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=806;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-1.937e+00;SOR=0.781	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1276,0,1479	20	0	1	0
chr4	95841007	95841007	G	C	exonic	PDHA2	.	nonsynonymous SNV	PDHA2:NM_005390:exon1:c.G857C:p.R286P,	.	.	259	1180	76	7	0	90	0.0367347	.	.	2736164	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.685	H	-6.13	D	0.850	D	0.988	D	0.493	3.384	17.42	3.17	0.785	3.345	8.906	0.837	.	0.0072	0.00479233	0.0091	0.0013	0.0039	0	0.0018	0.0103	0.0122	0.0205	0.0087644	1355	154602	rs147966234	0.0089	0.0089	0.0083	0.0094	0.0291	0.0088	0.0087	0.0255	0.0242	0.0015	0.0043	0.0293	2.519e-05	0.0026	0.0291	0.0083	0.0102	0.0217	0.0065	0.0065	0.0064	0.0066	0.0207	0.0061	0.0060	0.0174	0.0162	0.0013	0.0022	0.0059	0.0254	0.0002	0.0015	0.0272	0.0090	0.0085	0.0207	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.415	0.98701	H	-6.13	0.99538	D	-6.77	0.92782	D	0.682	0.68863	0.850	0.95025	D	0.988	0.99644	D	10	0.019148856	0.00424	T	.	.	.	0.837	0.94877	.	.	0.992494906561	0.99240	0.9509457850072159	0.95078	0.758613918606	0.64132	0.350653082132	0.18018	T	0.90863	0.98262	D	-0.0689159	0.41501	T	0.144487	0.79834	D	0.171731782637727	0.18697	T	0.972603	0.90144	D	0.97855526	0.98997	0.94133365	0.97855	0.97077864	0.98332	0.94133365	0.97855	-14.866	0.95531	D	0.8323588741810592	0.90287	0.984	0.91951	P	.	.	4.374370	0.67375	25.1	0.99635093215139092	0.76264	0.91787	0.54262	D	AEFI	0.551425	0.56350	D	0.704312212544012	0.79916	7.179797	0.518303780275318	0.69223	5.329706	0.00490781993713498	0.10757	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.91	3.17	0.35510	3.625000	0.53979	7.265000	0.57972	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0835:0.1496:0.7669:0.0	8.906	0.34685	875	0.30485	Dehydrogenase, E1 component	.	.	.	.	.	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	3913.11	37	chr4	95841007	.	G	C	3913.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.71;DP=973;ExcessHet=0.1072;FS=18.240;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.588;SOR=1.439	GT:AD:DP:GQ:PL	0/1:99,80:179:99:2207,0,2329	19	0	2	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.973	D	0.964	D	0.274	N	0.986	N	1.745	L	3.67	T	-1.090	T	0.040	T	0.61	3.658	18.60	2.36	0.190	4.136	8.164	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.45	6049.22	166	chr4	99318097	.	C	G	6049.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-2.037e+00;DP=3479;ExcessHet=30.0624;FS=302.606;InbreedingCoeff=-0.7873;MLEAC=19;MLEAF=0.475;MQ=59.97;MQRankSum=0.00;QD=2.22;ReadPosRankSum=-1.750e-01;SOR=13.960	GT:AD:DP:GQ:PL	0/1:102,26:128:99:142,0,2693	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	0/1:70,29:99:31:.:.:31,0,1122	4	0	16	1
chr4	103161453	103161453	C	A	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon18:c.G1772T:p.S591I	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.008	B	0.004	B	.	.	1.000	N	0.345	N	0.5	T	-1.012	T	0.108	T	0.346	-0.130	3.362	-7.91	-0.971	-0.326	4.205	0.063	0.0199999303879	0.0002	.	1.66e-05	0	0	0	0	3.008e-05	0	0	1.94e-05	3	154602	rs144782566	4.063e-05	4.036e-05	3.342e-05	4.794e-05	0.0009	3.188e-05	2.915e-05	0.0004	0.0002	0	0	0	0	0	0.0009	3.454e-05	0.0001	8.942e-05	2.631e-05	2.627e-05	2.571e-05	2.694e-05	5.886e-05	8.15e-06	5.14e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.886e-05	0	0	0.003	0.68238	D	0.21	0.27235	T	0.008	0.14655	B	0.001	0.10090	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	0.5	0.67874	T	-0.77	0.40660	N	0.136	0.21969	-1.0122	0.26228	T	0.108	0.39075	T	9	0.043705106	0.03248	T	0.02	0.42500	T	0.063	0.18251	.	.	0.576539395642	0.57322	0.04023553371420526	0.03969	0.0431053341588	0.04645	0.346014976501	0.17333	T	0.037303	0.24427	T	-0.191963	0.21971	T	-0.377607	0.36003	T	0.0287682600764864	0.01803	T	0.525647	0.17968	T	0.1252473	0.29365	0.09330758	0.22033	0.1252473	0.29365	0.09330758	0.22032	-4.671	0.33051	T	0.2152650057572829	0.28938	0.084	0.12938	B	.;.;.;.	.;.;.;.	0.644785	0.10131	6.877	0.68445240213857128	0.08660	0.02491	0.06969	N	AEFBI	0.036820	0.04968	N	-1.45543978445712	0.02174	0.09572169	-1.53238438647964	0.02100	0.09605534	0.999798190606738	0.43153	0.706298	0.61202	0	0.724815	0.89359	0	0.608884	0.39905	0	0.613276	0.41899	0	.	.	5.32	-7.91	0.01031	-0.397000	0.07329	0.118000	0.14877	-0.341000	0.05685	0.000000	0.06391	0.489000	0.25143	0.333000	0.25271	0.2139:0.4803:0.1141:0.1916	4.205	0.09942	906	0.23090	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1203.98	37	chr4	103161453	.	C	A	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.159;DP=948;ExcessHet=0.0000;FS=0.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.79;ReadPosRankSum=-2.860e-01;SOR=0.633	GT:AD:DP:GQ:PL	0/1:77,60:137:99:1218,0,1663	20	0	1	0
chr4	112438645	112438645	T	C	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001253884:exon12:c.T3116C:p.L1039P	.	.	432	1083	5	2	0	9	0.00413793	0.8979	0.82	709131	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	1.53	L	2.36	T	-1.100	T	0.070	T	0.53	4.268	22.3	5.37	2.036	7.604	15.361	0.429	.	0.0088	0.00359425	0.0073	0.0021	0.0038	0	0.0119	0.0108	0.0033	0.0004	0.0074837	1157	154602	rs35756863	0.0100	0.0100	0.0103	0.0097	0.0119	0.0099	0.0098	0.0117	0.0116	0.0015	0.0043	0.0026	2.52e-05	0.0111	0.0024	0.0119	0.0079	0.0005	0.0076	0.0076	0.0081	0.0071	0.0118	0.0072	0.0071	0.0111	0.0108	0.0026	0.0242	0.0073	0.0014	0.0002	0.0082	0.0136	0.0118	0.0076	0.0008	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.000000	1	0.81001	D	2.81	0.81869	M	2.36	0.16089	T	-2.46	0.53736	N	0.967	0.98065	-1.0999	0.04103	T	0.070	0.28445	T	10	0.014673233	0.00308	T	.	.	.	0.429	0.73590	.	.	0.54351673446	0.54005	.	.	0.598181219092	0.54992	0.659662127495	0.61361	T	0.144918	0.48178	T	-0.363675	0.03926	T	-0.284139	0.46379	T	0.0152199683013924	0.00334	T	0.865513	0.56452	D	0.80445546	0.84192	0.8646585	0.92498	0.8653628	0.88499	0.8646585	0.92499	-15.323	0.96564	D	0.8576460359881409	0.92203	0.982	0.91469	P	.;.;.	.;.;.	5.219620	0.87595	29.3	0.99914917463294939	0.98309	0.98625	0.84843	D	AEFBI	0.971011	0.99317	D	0.655612135686672	0.76734	6.541156	0.648756628216427	0.78519	6.892431	0.999856749232754	0.44174	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.37	5.37	0.76949	7.584000	0.81862	7.477000	0.59216	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.361	0.74187	801	0.44448	.;MHCK/EF2 kinase|MHCK/EF2 kinase|MHCK/EF2 kinase;MHCK/EF2 kinase|MHCK/EF2 kinase|MHCK/EF2 kinase	.	.	.	.	.	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	1462.98	40	chr4	112438645	.	T	C	1462.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.970e-01;DP=1075;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=-1.110e-01;SOR=0.710	GT:AD:DP:GQ:PL	0/1:62,65:127:99:1477,0,1508	20	0	1	0
chr4	113365098	113365098	G	C	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001354278:exon19:c.G2221C:p.E741Q	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	188400	Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin-B-related|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.012	N	0.998	D	2.585	M	-1.96	D	-0.230	T	0.397	T	0.793	4.893	28.1	4.46	1.242	6.242	13.889	0.169	0.0647824733808	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs746987182	2.805e-05	2.805e-05	3.539e-05	2.063e-05	8.945e-05	2.087e-05	1.878e-05	2.985e-05	2.022e-05	0	8.945e-05	0	0	0	0	3.148e-05	3.312e-05	0	5.919e-05	5.911e-05	3.858e-05	8.076e-05	0.0001	3.08e-05	2.212e-05	4.766e-05	3.339e-05	0	0	6.551e-05	0	0	0	0	0.0001	0.0005	0	0.052	0.72154	T	0.142	0.70582	T	0.999	0.77913	D	0.998	0.88582	D	0.012406	0.29184	N	0.233665	0.997647	0.44063	D	2.66	0.77858	M	-1.96	0.85091	D	-0.61	0.58733	N	0.312	0.41754	-0.2301	0.76885	T	0.397	0.74923	T	10	0.56864035	0.65193	D	0.064782	0.69382	D	0.694	0.88913	0.386	0.40624	0.828232658422	0.82660	0.4294400424720736	0.42861	0.381822959478	0.39529	0.478410691023	0.35837	T	0.497164	0.96160	T	0.152096	0.69463	D	0.156546	0.80593	D	0.455002371823956	0.30981	T	0.908809	0.77964	D	0.41477168	0.61742	0.3254056	0.58456	0.41477168	0.61742	0.3254056	0.58455	-11.508	0.82372	D	0.16366731299911888	0.20181	0.268	0.52401	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.508166	0.70568	25.5	0.99783662158133613	0.87043	0.98373	0.82117	D	AEFBI	0.841014	0.75824	D	0.387982213936239	0.60770	4.269693	0.410425418929245	0.62213	4.433082	0.999970313135306	0.50053	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.3	4.46	0.53567	6.379000	0.73086	7.474000	0.59184	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0739:0.0:0.9261:0.0	13.889	0.63231	626	0.65439	.;.;Death domain|Death domain|Death domain;Death domain|Death domain|Death domain;Death domain|Death domain|Death domain;.;Death domain|Death domain|Death 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	1466.98	33	chr4	113365098	.	G	C	1466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=817;ExcessHet=0.0000;FS=1.381;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=1.27;SOR=0.544	GT:AD:DP:GQ:PL	0/1:73,62:135:99:1481,0,1773	20	0	1	0
chr4	118282880	118282880	C	G	exonic	PRSS12	.	nonsynonymous SNV	PRSS12:NM_003619:exon12:c.G2271C:p.R757S,	Mental retardation, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.984	D	0.88	P	0.000	D	0.985	D	0.26	N	-2.31	D	-0.170	T	0.517	D	0.602	3.565	18.17	3.21	0.832	0.444	9.451	0.528	0.0791151522307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.26519	T	0.03	0.54159	D	0.984	0.60733	D	0.88	0.62516	P	0.000001	0.84330	D	0.092640	0.985025	0.40226	D	0.165	0.08973	N	-2.31	0.87750	D	-1.34	0.33401	N	0.442	0.48042	-0.1698	0.78433	T	0.517	0.81903	D	10	0.38958955	0.54793	T	0.079115	0.73159	D	0.528	0.80067	0.537	0.64730	0.801236475193	0.79937	0.8055341132898387	0.80508	0.418444487779	0.42431	0.412324309349	0.26778	T	0.16079	0.50477	T	0.0687046	0.60691	T	-0.139087	0.60197	T	0.832176685333252	0.48700	D	0.737326	0.35372	T	0.2765532	0.50716	0.15489325	0.36332	0.2765532	0.50716	0.15489325	0.36331	-6.977	0.53866	T	.	.	0.426	0.60983	A	.	.	3.379174	0.46730	22.3	0.99479091863968205	0.66795	0.90523	0.51769	D	ALL	0.540864	0.55725	D	0.148132273511903	0.48725	3.081158	0.186802457122497	0.49122	3.119396	1.0	0.98316	0.634777	0.41761	0	0.0	0.00010	3	0.643519	0.47002	0	0.592323	0.36904	0	.	.	5.88	3.21	0.35933	0.460000	0.21635	-0.140000	0.11527	0.549000	0.26987	0.997000	0.40164	0.038000	0.21505	0.999000	0.91618	0.0:0.6465:0.0:0.3535	9.451	0.37889	952	0.10565	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	761.98	34	chr4	118282880	.	C	G	761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.580e-01;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=-1.964e+00;SOR=0.664	GT:AD:DP:GQ:PL	0/1:50,32:82:99:776,0,1313	20	0	1	0
chr4	121037369	121037369	G	C	exonic	NDNF	.	nonsynonymous SNV	NDNF:NM_024574:exon4:c.C602G:p.T201S,	.	.	436	1077	9	0	0	9	0.00416089	.	.	2820144	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.997	D	0.994	D	0.000	D	1.000	D	1.525	L	0.65	T	-0.871	T	0.244	T	0.744	2.641	14.79	5.84	2.765	7.993	20.135	0.204	0.0216872234593	0.0005	0.000199681	0.0010	0	0.0011	0	0	0.0013	0.0011	0.0007	0.0008667	134	154602	rs200466645	0.0007	0.0007	0.0007	0.0007	0.0146	0.0007	0.0007	0.0121	0.0111	0.0002	0.0012	0.0096	0	5.616e-05	0.0146	0.0004	0.0014	0.0005	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0008	0.0007	9.622e-05	0	0.0012	0.0112	0	0	0.0068	0.0005	0.0047	0.0002	0.276	0.15717	T	0.507	0.10930	T	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.695	0.17993	N	0.65	0.52642	T	-0.44	0.14588	N	0.455	0.49237	-0.8705	0.50491	T	0.244	0.61319	T	10	0.008491099	0.00192	T	0.021687	0.44492	T	0.204	0.49076	0.196	0.10839	0.763780976484	0.76162	0.2937056347189592	0.29283	0.254108365317	0.27978	0.424705028534	0.28483	T	0.020045	0.15851	T	-0.203961	0.20235	T	-0.111304	0.62506	T	0.0608263988505474	0.07298	T	0.829717	0.49530	T	0.1737543	0.38141	0.15245628	0.35868	0.1737543	0.38141	0.15245628	0.35868	-2.469	0.05573	T	.	.	0.109	0.20780	B	.	.	2.484811	0.32052	18.93	0.987535742626932	0.45694	0.99237	0.93252	D	AEFBI	0.955310	0.97306	D	0.707482115093681	0.80125	7.225069	0.73993664393508	0.85405	8.570237	0.99999999998645	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.84	5.84	0.93373	8.119000	0.89444	8.655000	0.77949	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.135	0.98019	827	0.39843	Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2358.98	108	chr4	121037369	.	G	C	2358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=2189;ExcessHet=0.0000;FS=1.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-1.259e+00;SOR=0.789	GT:AD:DP:GQ:PL	0/1:85,89:174:99:2373,0,2121	20	0	1	0
chr4	125450146	125450146	G	A	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon10:c.G9136A:p.A3046T	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.945	P	0.582	P	0.114	U	1.000	D	1.09	L	0.81	T	-1.052	T	0.133	T	0.436	2.908	15.69	5.81	2.746	5.234	15.745	0.097	0.0097811890529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.14497	T	0.003	0.76473	D	0.92	0.51019	P	0.582	0.50238	P	0.114002	0.19292	U	0.268989	0.999641	0.48019	D	0.985	0.24966	L	0.81	0.48460	T	-1.49	0.38540	N	0.429	0.49237	-1.0516	0.13954	T	0.133	0.44661	T	10	0.27152833	0.44691	T	0.009781	0.25518	T	0.097	0.27909	0.436	0.48828	0.260580752073	0.25663	0.4072337811848174	0.40639	0.350990176469	0.36944	0.44729244709	0.31575	T	0.079482	0.36140	T	-0.0856307	0.38796	T	-0.360779	0.37964	T	0.53413745406617	0.33887	D	0.89801	0.64352	D	0.09152507	0.21449	0.10410685	0.24996	0.09152507	0.21449	0.10410685	0.24995	-4.692	0.33307	T	.	.	0.084	0.09723	B	.;.	.;.	2.974956	0.39663	21.0	0.99778197859703555	0.86519	0.95142	0.63592	D	AEFBI	0.434717	0.49565	N	0.334696669842401	0.57937	3.963259	0.445197975597489	0.64409	4.695434	0.868095149753161	0.25359	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	5.329000	0.65670	9.921000	0.82504	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:0.8554:0.1446	15.745	0.77702	922	0.19044	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	1	0	0	0	0	0	0	0.02381	1896.98	144	chr4	125450146	.	G	A	1896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.425e+00;DP=2583;ExcessHet=0.0000;FS=0.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-1.903e+00;SOR=0.614	GT:AD:DP:GQ:PL	0/1:89,75:164:99:1911,0,2556	20	0	1	0
chr4	127704250	127704250	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1526C:p.R509T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.28	M	1.53	T	-0.710	T	0.210	T	0.865	4.782	26.9	5.14	2.672	9.131	18.401	0.586	0.028113303493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.057e-06	2.052e-06	0	4.136e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	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	2.74	0.80084	M	1.53	0.30401	T	-4.06	0.74582	D	0.921	0.92433	-0.7100	0.59952	T	0.210	0.56933	T	10	0.910342	0.90399	D	0.028113	0.50841	D	0.586	0.83416	0.685	0.82271	0.675445021942	0.67269	0.7804156638025578	0.77992	0.662293056713	0.58963	0.714659333229	0.69269	T	0.849206	0.96552	D	0.208191	0.74660	D	0.0612757	0.74330	D	0.997202515602112	0.91010	D	0.935406	0.75832	D	0.54776746	0.69831	0.38335246	0.63301	0.54776746	0.69832	0.38335246	0.63301	-13.879	0.92657	D	0.7325577997116286	0.81429	0.848	0.79668	P	.	.	4.810719	0.78262	26.9	0.98569775045103225	0.43089	0.99344	0.94786	D	AEFI	0.872518	0.79441	D	0.873817251556548	0.90420	10.396	0.84368298210705	0.92643	11.54514	0.999999617710239	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	9.249000	0.94640	11.731000	0.94998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.401	0.90461	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	208.91	41	chr4	127704250	.	G	C	208.91	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.952e+00;DP=972;ExcessHet=0.6776;FS=194.263;InbreedingCoeff=-0.1052;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=0.184;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,15:53:99:0|1:127704250_G_C:101,0,1010:127704250	17	0	4	0
chr4	127704251	127704251	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1527C:p.R509S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.28	M	1.53	T	-0.921	T	0.161	T	0.943	3.733	18.96	1.26	-0.003	2.018	9.093	0.422	0.0294672289301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.861e-07	6.84e-07	0	1.38e-06	2.522e-05	0	0	.	.	0	0	0	2.522e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.74	0.80084	M	1.53	0.30401	T	-3.69	0.70432	D	0.946	0.95374	-0.9212	0.45390	T	0.161	0.49581	T	10	0.8873946	0.88071	D	0.029467	0.51971	D	0.422	0.73078	0.632	0.76810	0.600287769981	0.59710	0.7881439270302629	0.78766	0.561931678665	0.52692	0.684287190437	0.64885	T	0.802902	0.94994	D	0.206707	0.74521	D	0.0591445	0.74188	D	0.99298083782196	0.83620	D	0.931307	0.74459	D	0.6339207	0.74507	0.4426484	0.67508	0.6339207	0.74508	0.4426484	0.67508	-12.454	0.86992	D	0.7346386116156443	0.81645	0.919	0.84130	P	.	.	3.328126	0.45808	22.2	0.99730259453219516	0.82690	0.92757	0.56471	D	AEFI	0.467728	0.51483	N	0.374202189461738	0.60026	4.18743	0.274963314411494	0.54081	3.574282	3.07637346592026E-5	0.03498	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	1.26	0.20534	2.073000	0.41144	2.000000	0.30117	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.553:0.0:0.447:0.0	9.093	0.35784	897	0.25382	.	.	.	.	.	.	Uncertain significance	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	0.125	374.38	39	chr4	127704251	.	G	C	374.38	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.953e+00;DP=1018;ExcessHet=1.1607;FS=220.307;InbreedingCoeff=-0.1538;MLEAC=5;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.794;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,15:53:99:0|1:127704250_G_C:101,0,1010:127704250	15	0	5	1
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	0/1:44,23:67:99:135,0,665	7	0	9	5
chr4	134200395	134200395	C	G	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G625C:p.V209L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0763880608207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.011	0.15914	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	-0.54	0.02511	N	-1.99	0.85320	D	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.047787547	0.04144	T	0.076388	0.72520	D	.	.	.	.	0.886996762563	0.88588	0.2895462314696616	0.28867	.	.	0.353734135628	0.18471	T	0.002578	0.01964	T	-0.13623	0.30492	T	-0.433461	0.29544	T	.	.	.	0.812919	0.46506	T	0.029770393	0.02527	0.09160769	0.21547	0.029770393	0.02526	0.09160769	0.21546	-2.251	0.04295	T	.	.	0.101	0.17402	B	.	.	0.072384	0.04805	1.413	0.78418176329880218	0.12292	0.02313	0.06637	N	AEFDBI	0.081983	0.16595	N	.	.	.	.	.	.	0.997287692517554	0.35456	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.18	-0.609	0.11026	-0.371000	0.07569	-1.799000	0.04705	-0.262000	0.06890	0.000000	0.06391	0.000000	0.08366	0.525000	0.29590	0.1598:0.3182:0.1558:0.3663	0.873	0.01141	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	140.02	148	chr4	134200395	.	C	G	140.02	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-6.021e+00;DP=2662;ExcessHet=0.3300;FS=188.251;InbreedingCoeff=-0.0749;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.23;ReadPosRankSum=1.83;SOR=10.021	GT:AD:DP:GQ:PL	0/1:139,44:183:45:45,0,2615	18	0	3	0
chr4	139730437	139730439	CTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2310del:p.Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,74,0:74:99:3303,223,0,3303,223,3303	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	1/1:0,74,0:74:99:3303,223,0,3303,223,3303	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	0/1:60,30,0,0,0:92:99:.:.:1036,0,2315,1167,2419,3602,1167,2419,3602,3602,1167,2419,3602,3602,3602	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	0/1:60,30,0,0,0:92:99:.:.:1036,0,2315,1167,2419,3602,1167,2419,3602,3602,1167,2419,3602,3602,3602	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	0/1:60,30,0,0,0:92:99:.:.:1036,0,2315,1167,2419,3602,1167,2419,3602,3602,1167,2419,3602,3602,3602	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	0/1:60,30,0,0,0:92:99:.:.:1036,0,2315,1167,2419,3602,1167,2419,3602,3602,1167,2419,3602,3602,3602	12	0	3	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.949	P	0.761	P	0.009	N	1.000	N	2.97	M	-1.23	T	-0.477	T	0.493	T	0.582	1.307	10.28	0.338	-0.014	1.889	3.693	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8657.43	102	chr4	140563137	.	C	G	8657.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.013e+00;DP=2157;ExcessHet=43.6797;FS=230.561;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.52;ReadPosRankSum=-6.060e-01;SOR=13.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,20:79:99:0|1:140563137_C_G:146,0,1776:140563137	1	0	20	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.004	B	0.007	B	0.003	N	1.000	N	0.365	N	-1.27	T	-1.011	T	0.158	T	0.095	-1.272	0.044	-1.38	-0.574	-0.505	2.216	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8407.43	102	chr4	140563138	.	C	G	8407.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.724e+00;DP=2172;ExcessHet=43.6797;FS=230.605;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.60;ReadPosRankSum=-5.480e-01;SOR=12.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,20:79:99:0|1:140563137_C_G:146,0,1776:140563137	1	0	20	0
chr4	143214872	143214872	A	G	exonic	USP38	.	nonsynonymous SNV	USP38:NM_001290325:exon9:c.A2896G:p.I966V	.	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.002	N	0.990	N	-1.78	N	3.32	T	-0.953	T	0.005	T	0.015	-1.065	0.178	5.0	1.406	1.786	12.481	0.099	0.00388176495288	7.7e-05	0.00219649	0.0013	0	0.0004	0	0.0002	0.0005	0.0022	0.0074	0.0011966	185	154602	rs34511898	0.0007	0.0007	0.0005	0.0009	0.0097	0.0006	0.0006	0.0077	0.0070	0.0002	0.0004	0	5.043e-05	0	0.0097	0.0003	0.0010	0.0063	0.0004	0.0004	0.0003	0.0005	0.0041	0.0003	0.0003	0.0027	0.0023	9.62e-05	0	0.0004	0	0	0	0.0034	0.0004	0.0014	0.0041	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002323	0.36766	N	0.266852	0.990221	0.24198	N	-1.87	0.00254	N	3.3	0.06368	T	0.22	0.04694	N	0.034	0.00942	-0.9532	0.40416	T	0.005	0.01615	T	10	0.0028949678	0.00046	T	0.003882	0.09117	T	0.099	0.28413	.	.	0.208000267992	0.20380	0.07072708280217306	0.07009	0.100027882419	0.11303	0.287045925856	0.08494	T	0.018406	0.14841	T	-0.714274	0.00030	T	-0.795196	0.02025	T	0.00843170338910793	0.00102	T	0.679332	0.28809	T	0.031801905	0.03088	0.028243097	0.01043	0.031801905	0.03087	0.028243097	0.01043	-3.337	0.16812	T	.	.	0.064	0.01645	B	.;.	.;.	1.087629	0.14711	11.26	0.41531138822335889	0.03002	0.56177	0.30051	D	AEFBI	0.060810	0.11582	N	-0.659996962292792	0.17169	0.8812293	-0.332924558462829	0.27042	1.497827	0.987969778514954	0.31385	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.88	5.0	0.66209	1.853000	0.38998	3.928000	0.40516	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0837:0.0:0.9163:0.0	12.481	0.55184	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1295.98	37	chr4	143214872	.	A	G	1295.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.351e+00;DP=1299;ExcessHet=0.0000;FS=4.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=-1.960e-01;SOR=0.385	GT:AD:DP:GQ:PL	0/1:68,52:120:99:1310,0,1853	20	0	1	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	1/1:0,138,0:138:99:.:.:4691,415,0,4691,415,4691	0	20	0	0
chr4	146639314	146639314	-	GGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGC:p.G68_R69insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772231658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:1,44,0,0,0:45:97:1790,97,0,1794,132,1829,1794,132,1829,1829,1794,132,1829,1829,1829	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	1/1:1,44,0,0,0:45:97:1790,97,0,1794,132,1829,1794,132,1829,1829,1794,132,1829,1829,1829	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	1/1:1,44,0,0,0:45:97:1790,97,0,1794,132,1829,1794,132,1829,1829,1794,132,1829,1829,1829	0	10	4	0
chr4	174259787	174259787	T	C	exonic	FBXO8	.	nonsynonymous SNV	FBXO8:NM_012180:exon3:c.A368G:p.N123S,	.	.	441	1040	41	0	0	41	0.0193305	.	.	709238	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.69	T	0.044	B	0.018	B	0.000	D	1.000	D	1.445	L	0.62	T	-1.023	T	0.082	T	0.175	2.796	15.31	5.3	2.140	5.384	15.552	0.067	.	0.0031	0.00399361	0.0048	0.0006	0.0030	0.0002	0.0012	0.0051	0.0099	0.0115	0.0046248	715	154602	rs61748174	0.0046	0.0046	0.0043	0.0049	0.0252	0.0045	0.0045	0.0219	0.0206	0.0011	0.0026	0.0128	2.525e-05	0.0010	0.0252	0.0041	0.0055	0.0126	0.0035	0.0035	0.0036	0.0033	0.0118	0.0032	0.0031	0.0094	0.0085	0.0010	0	0.0023	0.0124	0.0004	0.0009	0.0068	0.0048	0.0057	0.0118	0.176	0.22312	T	0.825	0.09425	T	0.044	0.21686	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.355	0.33814	L	0.62	0.53302	T	0.44	0.14000	N	0.333	0.37405	-1.0227	0.22834	T	0.082	0.32178	T	10	0.00788039	0.00179	T	.	.	.	0.067	0.19503	.	.	0.597428956802	0.59422	0.5794341773884957	0.57872	0.47075830879	0.46345	0.559513449669	0.47200	T	0.056233	0.30230	T	-0.466853	0.00890	T	-0.433983	0.29485	T	0.0275765039054513	0.01626	T	0.887111	0.61484	D	0.22652934	0.45335	0.11510894	0.27788	0.22652934	0.45335	0.11510894	0.27787	-2.551	0.08711	T	.	.	0.076	0.15966	B	.;.;.;.	.;.;.;.	2.360029	0.30268	18.38	0.99134769933955058	0.53356	0.91582	0.53830	D	AEFDGBHCI	0.645724	0.62152	D	-0.0812770085505523	0.38214	2.234735	0.108946617168113	0.45004	2.771491	0.999999999999955	0.74766	0.743674	0.98306	0	0.724815	0.89359	0	0.618467	0.43123	0	0.584449	0.35598	0	.	.	5.3	5.3	0.74745	5.347000	0.65768	5.095000	0.47387	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.552	0.75899	637	0.64373	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1397.11	35	chr4	174259787	.	T	C	1397.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.276;DP=786;ExcessHet=0.1072;FS=2.255;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.901;SOR=0.914	GT:AD:DP:GQ:PL	0/1:35,32:67:99:814,0,880	19	0	2	0
chr4	174977762	174977762	C	T	exonic	ADAM29	.	nonsynonymous SNV	ADAM29:NM_001278127:exon2:c.C2237T:p.T746M	.	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.991	D	0.5	P	.	.	1.000	N	0	N	4.5	T	-0.850	T	0.005	T	0.236	0.866	8.511	0.582	-0.059	-0.798	6.178	0.053	0.00347788547916	.	.	0.0007	0	0.0004	0	0	0.0005	0.0022	0.0026	7.76e-05	12	154602	rs142711835	0.0004	0.0004	0.0002	0.0005	0.0065	0.0003	0.0003	0.0048	0.0042	0	0.0004	0.0007	0	1.874e-05	0.0065	0.0001	0.0008	0.0029	0.0002	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0019	0.0016	2.415e-05	0	0.0004	0.0003	0	0	0.0035	0.0002	0.0010	0.0031	0.138	0.25873	T	0.009	0.66756	D	0.991	0.64070	D	0.5	0.47649	P	.	.	.	.	1	0.08975	N	0	0.06538	N	4.5	0.02032	T	-0.17	0.09627	N	0.24	0.27077	-0.8499	0.51975	T	0.005	0.01651	T	8	0.0114863515	0.00251	T	0.003478	0.07878	T	0.053	0.14996	.	.	0.209622950755	0.20551	0.09652196550229174	0.09584	0.0750720904169	0.08422	0.265156507492	0.05521	T	0.002436	0.01826	T	-0.613562	0.00120	T	-0.659663	0.08290	T	0.0399643401919718	0.03683	T	0.585041	0.21304	T	0.016273126	0.00187	0.029660968	0.01328	0.016273126	0.00187	0.029660968	0.01328	-4.435	0.30028	T	.	.	0.077	0.06663	B	.;.;.;.;.;.	.;.;.;.;.;.	0.610561	0.09792	6.556	0.96266335432899974	0.29234	0.00393	0.01973	N	AEFBI	0.024951	0.01629	N	-0.783625961754949	0.13736	0.6788855	-0.979396958444803	0.10248	0.5149442	2.33857128395381E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.54	0.582	0.16594	-0.240000	0.08970	-4.095000	0.02345	0.437000	0.21030	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.802:0.0:0.198	6.178	0.19672	960	0.08626	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	16340.8	38	chr4	174977762	.	C	T	16340.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=1.23;DP=2474;ExcessHet=0.1072;FS=1.108;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=59.99;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.833;SOR=0.613	GT:AD:DP:GQ:PL	0/1:288,293:581:99:6917,0,6570	18	0	2	1
chr4	186609920	186609920	C	T	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon15:c.G9949A:p.D3317N,	.	.	434	1084	4	0	0	4	0.00184162	.	.	709287	FAT1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.34	T	1.0	D	1.0	D	0.000	D	1.000	D	0.455	N	4.67	T	-0.568	T	0.013	T	0.091	3.267	16.96	5.22	2.721	7.590	18.975	0.349	0.0962073401596	0.0002	0.000199681	0.0006	0.0002	0.0003	0.0001	0	0.0003	0.0022	0.0025	0.0004722	73	154602	rs199989457	0.0006	0.0006	0.0005	0.0007	0.0026	0.0006	0.0005	0.0023	0.0022	0.0001	0.0003	0	5.038e-05	1.873e-05	0.0007	0.0005	0.0005	0.0026	0.0004	0.0004	0.0005	0.0002	0.0027	0.0003	0.0003	0.0016	0.0013	0.0001	0	0	0	0	0	0	0.0005	0.0005	0.0027	0.041	0.41915	D	0.248	0.23914	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.4	0.35362	L	4.67	0.01735	T	-1.53	0.37178	N	0.759	0.75742	-0.5681	0.66090	T	0.013	0.05081	T	10	0.05082819	0.04874	T	0.096207	0.76563	D	0.349	0.67049	.	.	0.432154444652	0.42834	0.519538591575162	0.51876	0.49701952007	0.48195	0.648297071457	0.59744	T	0.117551	0.43771	T	-0.554586	0.00274	T	-0.574638	0.15027	T	0.0596797902304094	0.07118	T	0.60154	0.22486	T	0.19423354	0.41165	0.115783885	0.27951	0.19423354	0.41165	0.115783885	0.27950	-3.675	0.18950	T	.	.	0.242	0.47665	B	.;.	.;.	3.890713	0.56604	23.8	0.99435982602710948	0.64522	0.98907	0.88457	D	AEFBI	0.942213	0.94651	D	0.412761421925094	0.62121	4.423162	0.403800005964557	0.61800	4.385445	0.999999999999777	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.22	5.22	0.72285	7.844000	0.85149	5.924000	0.51211	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:1.0:0.0:0.0	18.975	0.92708	864	0.32732	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1157.98	37	chr4	186609920	.	C	T	1157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=0.731;SOR=0.643	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1172,0,1053	20	0	1	0
chr5	840546	840546	A	G	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon5:c.T733C:p.F245L,	.	.	396	1053	73	0	0	73	0.0335016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.002	B	.	.	1.000	N	-0.235	N	1.96	T	-1.058	T	0.035	T	0.468	-1.931	0.008	-5.47	-2.822	-1.604	3.145	0.099	0.00104621411682	.	.	0.0014	0.0052	0.0006	0.0024	0	0.0009	0.0033	0.0016	1.29e-05	2	154602	rs201008730	0.0002	0.0040	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0010	0.0003	0.0004	3.833e-05	0.0005	1.883e-05	0.0021	0.0002	0.0004	0.0005	0.0008	0.0098	0.0009	0.0007	0.0031	0.0007	0.0006	0.0019	0.0015	0.0017	0	0.0005	0	0.0031	0	0	0.0003	0.0020	0.0008	1.0	0.10802	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	1.96	0.38556	T	1.6	0.33197	N	0.112	0.09914	-1.0577	0.12337	T	0.035	0.15074	T	9	0.0083985925	0.00191	T	0.001046	0.01167	T	0.099	0.28413	0.536	0.64585	0.149567049428	0.14543	0.32164779350983813	0.32077	0.066022613777	0.07365	0.213868185878	0.00987	T	0.002805	0.02196	T	-0.181055	0.23578	T	-0.49785	0.22571	T	0.00374376377463194	0.00040	T	0.242976	0.05020	T	0.03805676	0.04996	0.03860824	0.03767	0.03805676	0.04996	0.03860824	0.03767	-0.686	0.01569	T	.	.	0.157	0.42678	B	.;.;.	.;.;.	-1.027763	0.00732	0.022	0.082392823127223083	0.00061	0.00186	0.01083	N	AEFDGBI	0.019948	0.00741	N	-2.1408184491181	0.00104	0.004452357	-2.2138367864308	0.00104	0.004581189	0.998039345530398	0.36340	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	2.74	-5.47	0.02396	-0.923000	0.04109	-7.847000	0.01075	-0.595000	0.04637	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0968:0.231:0.1463:0.5259	3.145	0.06079	946	0.12043	Palmitoyltransferase, DHHC domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	1920.92	353	chr5	840546	.	A	G	1920.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.560e-01;DP=2431;ExcessHet=0.6776;FS=5.180;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.12;MQRankSum=-1.789e+01;QD=1.22;ReadPosRankSum=-1.968e+00;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,55:316:99:0|1:840529_G_C:1479,0,10604:840529	17	0	4	0
chr5	40852672	40852672	T	C	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon3:c.T1340C:p.L447P,	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	1.725	L	2.27	T	-1.077	T	0.098	T	0.956	1.375	10.53	5.38	2.261	6.461	13.392	0.429	0.012432885817	.	0.000199681	9.895e-05	9.625e-05	0.0003	0	0	9.004e-05	0	0.0001	0.0001229	19	154602	rs143022216	0.0001	0.0001	0.0001	0.0001	0.0066	0.0001	0.0001	0.0049	0.0044	0.0002	0.0003	0	2.519e-05	0	0.0066	8.723e-05	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0010	0.0002	0.0001	0.0006	0.0005	4.808e-05	0	0.0010	0	0	0	0.0068	0.0002	0	0.0002	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000422	0.44522	D	0.000000	1	0.81001	D	2.27	0.64531	M	2.27	0.17431	T	-5.98	0.89334	D	0.867	0.86404	-1.0765	0.08043	T	0.098	0.36677	T	10	0.6851915	0.71519	D	0.012433	0.30996	T	0.429	0.73590	.	.	0.415055319159	0.41122	0.7552021941774799	0.75467	0.249479662165	0.27528	0.438466489315	0.30368	T	0.170054	0.51765	T	0.00419462	0.52231	T	0.0742255	0.75193	D	0.214120922741859	0.21166	T	0.437256	0.12012	T	0.899575	0.91345	0.88316613	0.93784	0.899575	0.91346	0.88316613	0.93784	-8.8	0.66400	D	.	.	0.255	0.48928	B	.	.	2.917260	0.38715	20.8	0.98911227897141518	0.48381	0.87934	0.47649	D	AEFBI	0.765485	0.70196	D	0.437832267151663	0.63516	4.586854	0.337237355742674	0.57743	3.941146	0.999999998517306	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	6.830000	0.75110	7.179000	0.57745	0.665000	0.62972	0.898000	0.31380	0.999000	0.35428	0.509000	0.29221	0.0:0.0:0.0:1.0	13.392	0.60274	480	0.77422	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4548.11	34	chr5	40852672	.	T	C	4548.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.817e+00;DP=1009;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.74;ReadPosRankSum=0.295;SOR=0.695	GT:AD:DP:GQ:PL	0/1:92,88:180:99:2118,0,2452	19	0	2	0
chr5	56859791	56859791	A	G	exonic	MAP3K1	.	nonsynonymous SNV	MAP3K1:NM_005921:exon3:c.A710G:p.Q237R,	46XY sex reversal 6, Autosomal dominant	.	0	1486	33	3	0	39	0.0129525	.	.	246988	46,XY_sex_reversal_6|not_specified|not_provided	MONDO:MONDO:0013410,MedGen:C3151064,OMIM:613762|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	0.588	N	1.000	N	0.55	N	-0.34	T	-1.036	T	0.115	T	0.177	1.118	9.557	-3.69	-0.366	0.717	4.332	0.137	.	0.0006	0.000798722	0.0018	0.0003	0.0065	0	0	0.0015	0.0102	0.0020	0.0015394	238	154602	rs55694258	0.0009	0.0009	0.0009	0.0010	0.0219	0.0009	0.0009	0.0188	0.0176	0.0008	0.0039	0.0015	0	1.873e-05	0.0219	0.0007	0.0016	0.0020	0.0009	0.0009	0.0009	0.0010	0.0024	0.0008	0.0007	0.0018	0.0016	0.0003	0	0.0024	0.0020	0	9.411e-05	0.0272	0.0009	0.0038	0.0004	0.006	0.61437	D	0.481	0.11864	T	0.0	0.02946	B	0.0	0.01387	B	0.587908	0.11078	N	0.837756	0.999939	0.19363	N	0.805	0.20218	L	-0.34	0.68474	T	-0.26	0.11185	N	0.188	0.20528	-1.0356	0.18668	T	0.115	0.40695	T	10	0.0047872365	0.00101	T	.	.	.	0.137	0.36984	.	.	0.767770749785	0.76565	0.31167554021633687	0.31080	0.279873614581	0.30470	0.311512827873	0.12135	T	0.055951	0.30151	T	-0.456778	0.01029	T	-0.430062	0.29928	T	0.00589602414781587	0.00065	T	0.490351	0.15073	T	0.11099415	0.26231	0.0930921	0.21972	0.11099415	0.26231	0.0930921	0.21971	-2.332	0.04733	T	0.13438310379934096	0.14510	0.086	0.10691	B	.	.	0.535943	0.09045	5.828	0.96312841096384838	0.29387	0.16668	0.19494	N	AEFBI	0.065049	0.12665	N	-1.08706520600638	0.06880	0.3180284	-1.11087423519471	0.07492	0.3646073	0.997200512597275	0.35373	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.72	-3.69	0.04162	0.455000	0.21555	0.471000	0.18712	0.756000	0.94297	0.073000	0.22155	0.001000	0.17328	0.102000	0.18378	0.3117:0.428:0.0612:0.1991	4.332	0.10510	919	0.19497	.	.	.	.	.	.	Likely benign	0	0	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	1055.98	33	chr5	56859791	.	A	G	1055.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.494;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.92;ReadPosRankSum=0.989;SOR=0.739	GT:AD:DP:GQ:PL	0/1:10,43:53:99:1070,0,123	20	0	1	0
chr5	61332332	61332332	-	GGC	exonic	ZSWIM6	.	nonframeshift insertion	ZSWIM6:NM_020928:exon1:c.60_61insGGC:p.G26_S27insG,	Acromelic frontonasal dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	6329.05	24	chr5	61332326	.	GGGCGGC	GGGCGGCGGC,G	6329.05	.	AC=9,3;AF=0.214,0.071;AN=42;BaseQRankSum=1.13;DP=807;ExcessHet=0.7800;FS=1.515;InbreedingCoeff=0.0667;MLEAC=9,3;MLEAF=0.214,0.071;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=-9.200e-02;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:15,9,0:24:99:.:.:331,0,603,376,630,1007	11	1	6	0
chr5	73447402	73447429	CGGCGGCCGCGCCGTGCGGTGGCGGGGG	-	exonic	FOXD1	.	frameshift deletion	FOXD1:NM_004472:exon1:c.934_961del:p.P312Sfs*252,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	53.44	2	chr5	73447401	.	TCGGCGGCCGCGCCGTGCGGTGGCGGGGG	T	53.44	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.240e-01;DP=146;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0840;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=6.68;ReadPosRankSum=0.524;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,2:8:66:66,0,246	19	0	1	1
chr5	75091304	75091304	A	C	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon22:c.T5258G:p.L1753R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.536	D	2.045	M	0.62	T	-0.415	T	0.219	T	0.618	3.814	19.37	5.29	2.015	4.602	12.614	0.231	0.111300731309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.536115	0.32015	D	2.175	0.60977	M	0.62	0.53302	T	-2.16	0.48850	N	0.818	0.81360	-0.4146	0.71563	T	0.219	0.58201	T	7	0.32827377	0.50099	T	0.111301	0.78903	D	0.231	0.53208	0.592	0.72123	0.324436698001	0.32047	0.4334824194705021	0.43265	.	.	0.446837604046	0.31512	T	0.134526	0.46582	T	0.00921274	0.52917	T	-0.224543	0.52299	T	0.968923926353455	0.68410	D	0.765223	0.39255	T	0.68806475	0.77406	0.7303932	0.84070	0.68806475	0.77408	0.7303932	0.84071	-3.561	0.17296	T	.	.	0.768	0.75820	P	.;.	.;.	4.592418	0.72660	25.9	0.99692932394309353	0.80044	0.90900	0.52474	D	AEFBI	0.512492	0.54068	D	0.392221919617404	0.60999	4.295452	0.440081407134247	0.64082	4.655465	0.999986021535768	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	4.818000	0.62347	11.108000	0.86264	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	12.614	0.55925	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	921.98	34	chr5	75091304	.	A	C	921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=790;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.81;ReadPosRankSum=0.375;SOR=0.551	GT:AD:DP:GQ:PL	0/1:50,44:94:99:936,0,1051	20	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	1.000	N	1.61	L	0.06	T	-0.973	T	0.133	T	0.568	0.412	6.238	-2.42	-0.580	-0.566	0.344	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2381	835.18	74	chr5	75146001	.	A	G	835.18	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-2.826e+00;DP=1745;ExcessHet=6.1002;FS=93.999;InbreedingCoeff=-0.2987;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.04;SOR=11.037	GT:AD:DP:GQ:PL	0/1:63,17:80:73:73,0,1300	11	0	10	0
chr5	80437332	80437332	C	T	exonic	ZFYVE16	.	nonsynonymous SNV	ZFYVE16:NM_001284237:exon3:c.C647T:p.S216L	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.021	B	0.011	B	0.220	N	0.998	N	0.345	N	1.14	T	-0.993	T	0.040	T	0.063	-0.927	0.385	-0.48	0.026	-0.090	10.014	0.030	0.00600571349863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.578	0.06030	T	0.372	0.16376	T	0.002	0.09854	B	0.004	0.10090	B	0.219894	0.16163	N	0.518702	0.99782	0.22489	N	0.55	0.14455	N	1.14	0.38397	T	-0.89	0.24026	N	0.093	0.11769	-0.9933	0.31749	T	0.040	0.17106	T	10	0.044118315	0.03334	T	0.006006	0.15668	T	0.030	0.07022	0.275	0.22687	0.352262096564	0.34836	0.12811700135283888	0.12736	0.0426833663064	0.04603	0.292248100042	0.09250	T	0.004795	0.04206	T	-0.319811	0.06912	T	-0.697163	0.05982	T	0.0301871709525585	0.02018	T	0.746025	0.36642	T	0.043378968	0.06748	0.04774323	0.06944	0.043378968	0.06748	0.04774323	0.06944	-3.981	0.23518	T	.	.	0.073	0.04806	B	.;.;.	.;.;.	1.839313	0.23369	15.99	0.36170304872751802	0.02312	0.22143	0.21646	N	AEFBI	0.041230	0.06241	N	-0.902758784211391	0.10778	0.5167009	-0.794847114495535	0.14622	0.7649157	0.0438572772105586	0.14588	0.562547	0.31514	0	0.601575	0.49859	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.24	-0.48	0.11483	-0.065000	0.11575	0.787000	0.21533	0.549000	0.26987	0.336000	0.25640	0.997000	0.33255	0.971000	0.54645	0.0:0.5682:0.0:0.4318	10.014	0.41175	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	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	1699.98	85	chr5	80437332	.	C	T	1699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.252e+00;DP=1790;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.45;ReadPosRankSum=-1.300e-01;SOR=0.605	GT:AD:DP:GQ:PL	0/1:47,63:110:99:1714,0,1292	20	0	1	0
chr5	113488342	113488342	-	GCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.72_73insGGC:p.S24_S25insG,	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0051	0.0015	0.0020	0	0.0005	0.0020	0.0044	0.0021345	330	154602	rs775732898	0.0008	0.0011	0.0009	0.0008	0.0099	0.0008	0.0008	0.0089	0.0085	0.0099	0.0024	0.0002	9.69e-05	0.0001	0.0026	0.0006	0.0016	0.0006	0.0034	0.0034	0.0034	0.0034	0.0095	0.0032	0.0031	0.0087	0.0084	0.0095	0	0.0045	0	0.0006	9.529e-05	0.0103	0.0006	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55421.17	118	chr5	113488342	.	T	C,TGCTGCTGCC,TGCC	55421.17	.	AC=27,7,1;AF=0.643,0.167,0.024;AN=42;BaseQRankSum=-1.446e+00;DP=2966;ExcessHet=2.5830;FS=1.369;InbreedingCoeff=-0.2000;MLEAC=27,7,1;MLEAF=0.643,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.98;ReadPosRankSum=-1.100e-02;SOR=0.803	GT:AD:DP:GQ:PL	1/2:0,54,30,0:84:99:2483,1217,2333,1354,0,1889,2669,1911,1809,3531	0	7	7	0
chr5	113488351	113488351	-	GCCGCTGCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.63_64insGGCAGCGGC:p.G21_S22insGSG,	Colorectal cancer, somatic	.	0	73	103	46	4	199	0.571848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3783	.	0.0057	0	0	0.0032	0	0.0008	0	0.0260	0.0009989	26	26028	rs531679771	0.0043	0.0048	0.0037	0.0049	0.0326	0.0042	0.0042	0.0314	0.0310	0.0004	0.0013	0.0091	0.0236	0.0006	0.0039	0.0021	0.0049	0.0326	0.0037	0.0038	0.0029	0.0045	0.0508	0.0035	0.0034	0.0456	0.0436	0.0008	0	0.0018	0.0098	0.0124	0.0004	0	0.0022	0.0048	0.0508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37732.13	76	chr5	113488351	.	T	TGCC,TGCCGCTGCC	37732.13	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=0.319;DP=2449;ExcessHet=5.5923;FS=0.563;InbreedingCoeff=-0.2494;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=25.19;ReadPosRankSum=0.315;SOR=0.655	GT:AD:DP:GQ:PL	0/1:33,29,0:62:99:1005,0,2161,1160,1412,3313	3	5	12	0
chr5	119134101	119134101	C	T	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon12:c.C2177T:p.A726V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.525	M	0.94	T	-0.509	T	0.301	T	0.847	4.804	27.1	5.54	2.603	7.484	19.467	0.500	0.14605528956	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312697686	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.065	0.87014	M	0.94	0.43672	T	-3.78	0.71519	D	0.89	0.90251	-0.5095	0.68305	T	0.301	0.67176	T	9	0.77610016	0.77471	D	0.146055	0.82820	D	0.500	0.78350	0.357	0.35897	0.379559396232	0.37572	0.8436559584663397	0.84326	0.363131982536	0.37948	0.868579685688	0.92364	D	0.272763	0.76941	T	0.216773	0.75470	D	0.0736025	0.75151	D	0.996248662471771	0.88951	D	0.988501	0.96026	D	0.8040572	0.84165	0.68002355	0.81200	0.8040572	0.84167	0.68002355	0.81201	-8.713	0.65830	D	.	.	0.934	0.85795	P	.;.	.;.	4.738853	0.76397	26.5	0.99919780542108916	0.98654	0.98302	0.81423	D	AEFBI	0.870749	0.79184	D	0.801052545216315	0.86171	8.800886	0.777876996050408	0.88216	9.499908	0.999999999224703	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.54	5.54	0.82907	7.565000	0.81337	7.651000	0.63703	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.467	0.94937	885	0.28214	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	35.98	33	chr5	119134101	.	C	T	35.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.285e+00;DP=1089;ExcessHet=0.0000;FS=202.042;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=1.26;SOR=7.903	GT:AD:DP:GQ:PL	0/1:80,28:108:50:50,0,1746	20	0	1	0
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.695	N	1.000	D	3.32	M	-5.39	D	1.101	D	0.983	D	0.927	4.525	24.4	4.86	2.698	7.609	18.546	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4583	1580.95	81	chr5	128288438	.	C	G	1580.95	.	AC=11;AF=0.458;AN=24;BaseQRankSum=-1.136e+00;DP=1745;ExcessHet=7.7275;FS=212.727;InbreedingCoeff=-0.5735;MLEAC=15;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=1.53;SOR=10.054	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,33:104:71:.:.:71,0,801	1	0	11	9
chr5	132603440	132603440	A	G	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon14:c.A2348G:p.E783G,	Nijmegen breakage syndrome-like disorder	.	.	.	.	.	.	.	.	.	.	152207	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.996	D	0.883	P	0.000	D	1.000	D	0.975	L	3.6	T	-1.123	T	0.034	T	0.71	4.627	25.3	5.16	2.077	8.944	15.301	0.291	0.00599465479304	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374550615	7.526e-06	7.524e-06	5.446e-06	9.627e-06	0.0002	4.04e-06	2.95e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.094e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.45318	T	0.996	0.68779	D	0.883	0.62698	P	0.000000	0.84330	D	0.051486	1	0.81001	D	1.935	0.51832	L	.	.	.	.	.	.	0.728	0.72925	-1.1234	0.02127	T	0.034	0.14552	T	10	0.64749825	0.69411	D	0.005995	0.15638	T	0.291	0.61040	.	.	0.698509492642	0.69590	0.2630429116726125	0.26217	.	.	0.518446564674	0.41407	T	0.322394	0.69341	T	0.221623	0.75929	D	0.0805698	0.75615	D	0.936691701412201	0.60589	D	0.825317	0.48765	T	0.26030654	0.49087	0.31124777	0.57132	0.26030654	0.49087	0.31124777	0.57131	-6.287	0.48619	T	0.3079365990184664	0.40570	0.128	0.27373	B	.;.;.;.	.;.;.;.	4.209821	0.63596	24.6	0.99929517713596949	0.99279	0.99062	0.90669	D	AEFBI	0.910600	0.86873	D	0.626936297376999	0.74884	6.209182	0.656036641075826	0.79062	7.003457	0.999999990051678	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.16	5.16	0.70563	8.676000	0.90929	9.278000	0.79691	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.301	0.73652	834	0.38640	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	898.98	34	chr5	132603440	.	A	G	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.562e+00;DP=779;ExcessHet=0.0000;FS=2.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=0.015;SOR=0.529	GT:AD:DP:GQ:PL	0/1:53,41:94:99:913,0,1368	20	0	1	0
chr5	132603986	132603986	G	C	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon15:c.G2464C:p.D822H,	Nijmegen breakage syndrome-like disorder	.	.	.	.	.	.	.	.	.	.	152208	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.003	B	0.019	N	0.994	N	0.695	N	2.12	T	-1.030	T	0.029	T	0.166	1.708	11.67	1.78	0.044	2.456	5.826	0.021	0.00228876179948	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587782501	5.475e-06	5.472e-06	5.448e-06	5.503e-06	0.0002	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.298e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.41239	T	0.001	0.07471	B	0.003	0.08700	B	0.018534	0.27462	N	0.444430	0.998705	0.23691	N	1.39	0.34934	L	.	.	.	.	.	.	0.212	0.23632	-1.0304	0.20325	T	0.029	0.12409	T	10	0.11068222	0.20698	T	0.002289	0.04397	T	0.021	0.04004	0.415	0.45380	0.443999229985	0.44019	0.26529107436185095	0.26442	.	.	0.365473985672	0.20180	T	0.143182	0.47916	T	-0.130523	0.31413	T	-0.425263	0.30473	T	0.256202459335327	0.23148	T	0.827017	0.49049	T	0.036515236	0.04506	0.07757694	0.17296	0.036515236	0.04506	0.07757694	0.17296	-5.522	0.42073	T	0.3779003437927019	0.47268	0.140	0.30765	B	.;.;.;.	.;.;.;.	3.011011	0.40265	21.1	0.95105397780120438	0.26185	0.83094	0.42241	D	AEFDBCI	0.330173	0.43029	N	-0.52541795849528	0.21260	1.126994	-0.365345658435262	0.26038	1.435722	0.99991048555616	0.45857	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.67	1.78	0.23918	2.480000	0.44865	3.909000	0.40397	-0.153000	0.12021	0.983000	0.35670	1.000000	0.68203	0.982000	0.59238	0.3725:0.1281:0.4994:0.0	5.826	0.17808	832	0.38914	.;.;.;.	.	.	.	.	.	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	1480.98	41	chr5	132603986	.	G	C	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.600e-02;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=0.057;SOR=0.682	GT:AD:DP:GQ:PL	0/1:62,66:128:99:1495,0,1372	20	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.106	B	0.102	B	0.001	N	0.755	D	0.35	N	1.58	T	-1.019	T	0.045	T	0.06	3.188	16.67	5.29	2.473	2.054	10.020	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	1317.98	74	chr5	139887481	.	C	T	1317.98	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-4.144e+00;DP=2291;ExcessHet=6.1002;FS=235.435;InbreedingCoeff=-0.3991;MLEAC=11;MLEAF=0.324;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.733;SOR=11.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,19:111:14:0|1:139887481_C_T:14,0,2942:139887481	7	0	10	4
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.928	P	0.653	P	0.001	D	0.844	D	1.37	L	-0.42	T	-0.572	T	0.250	T	0.143	3.573	18.21	1.49	-0.008	0.043	8.579	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1380.18	70	chr5	139887483	.	C	G,T	1380.18	.	AC=7,3;AF=0.184,0.079;AN=38;BaseQRankSum=-4.039e+00;DP=2146;ExcessHet=6.1002;FS=245.753;InbreedingCoeff=-0.3923;MLEAC=8,3;MLEAF=0.211,0.079;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.802;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,19,0:111:14:0|1:139887481_C_T:14,0,2942,288,2994,3282:139887481	9	0	7	2
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.758	P	0.516	P	.	.	1.000	N	1.855	L	4.57	T	-0.969	T	0.012	T	0.448	1.619	11.37	2.79	0.455	-0.994	4.291	0.054	0.0073481168098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	1.163e-05	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.088	0.40586	T	0.758	0.43456	P	0.516	0.48072	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.57	0.01917	T	-1.9	0.44284	N	0.19	0.20793	-0.9688	0.37448	T	0.012	0.04463	T	9	0.14442283	0.27407	T	0.007348	0.19496	T	0.054	0.15330	0.24	0.17218	0.297718772494	0.29385	0.23022774839758178	0.22937	0.259062600134	0.28458	0.285979688168	0.08340	T	0.007225	0.06645	T	-0.192082	0.21952	T	-0.513689	0.20937	T	0.239479869604111	0.22395	T	0.0113989	0.00062	T	0.14268309	0.32824	0.21860704	0.46570	0.14268309	0.32824	0.21860704	0.46569	-8.191	0.62365	D	.	.	0.557	0.67107	A	.	.	1.047924	0.14288	10.87	0.99254472283569606	0.56989	0.18010	0.20081	N	AEFDBI	0.376982	0.46093	N	-0.355294400045894	0.27079	1.482807	-0.435194067126652	0.23971	1.310156	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	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	0.2917	971.06	186	chr5	141173766	.	G	C,A	971.06	.	AC=5,2;AF=0.208,0.083;AN=24;BaseQRankSum=-4.234e+00;DP=3548;ExcessHet=2.5830;FS=244.867;InbreedingCoeff=-0.3782;MLEAC=7,3;MLEAF=0.292,0.125;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.532;SOR=10.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:127,11,44:182:65:.:.:65,394,4819,0,2490,2165	5	0	5	9
chr5	141173766	141173766	G	A	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931A:p.A311T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.006	B	.	.	1.000	N	-0.505	N	4.98	T	-0.901	T	0.002	T	0.037	-0.559	1.475	2.79	0.455	-0.994	4.291	0.017	0.00591327826065	.	.	2.478e-05	9.839e-05	8.639e-05	0	0	0	0	6.072e-05	3.23e-05	5	154602	rs201447017	4.724e-05	4.721e-05	5.722e-05	3.716e-05	6.725e-05	3.797e-05	3.479e-05	4.009e-05	3.661e-05	5.986e-05	6.725e-05	0	0	0	0	5.13e-05	9.943e-05	1.16e-05	8.561e-05	8.542e-05	0.0001	5.395e-05	0.0001	4.968e-05	3.971e-05	6.299e-05	4.31e-05	0.0001	0	6.553e-05	0	0	0	0	7.357e-05	0.0005	0	0.798	0.03134	T	0.395	0.15255	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.075	0.08292	N	4.98	0.01344	T	0.37	0.03639	N	0.033	0.00882	-0.9010	0.47889	T	0.002	0.00769	T	9	0.028985262	0.01027	T	0.005913	0.15400	T	0.017	0.02790	0.197	0.10975	0.167679373172	0.16340	0.04559477965422199	0.04503	0.115026090571	0.12974	0.266463220119	0.05685	T	9.28E-4	0.00478	T	-0.542484	0.00324	T	-0.820046	0.01452	T	0.00890818803132437	0.00111	T	0.0506449	0.00361	T	0.02743792	0.01935	0.058982458	0.10991	0.02743792	0.01935	0.058982458	0.10991	-3.738	0.19880	T	.	.	0.072	0.04277	B	.	.	0.118537	0.05166	1.684	0.78187323793622165	0.12193	0.06778	0.12801	N	AEFDBI	0.084714	0.17170	N	-1.0643960782247	0.07308	0.3390868	-0.930179356539086	0.11384	0.5796107	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	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	0	0	0	0	0.2917	971.06	186	chr5	141173766	.	G	C,A	971.06	.	AC=5,2;AF=0.208,0.083;AN=24;BaseQRankSum=-4.234e+00;DP=3548;ExcessHet=2.5830;FS=244.867;InbreedingCoeff=-0.3782;MLEAC=7,3;MLEAF=0.292,0.125;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.532;SOR=10.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:127,11,44:182:65:.:.:65,394,4819,0,2490,2165	5	0	5	9
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	0/1:159,40:199:99:.:.:392,0,3797	1	0	20	0
chr5	141399395	141399395	G	A	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G1268A:p.R423K	.	.	422	1048	52	0	0	52	0.0242086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0115815	0.0072	0.0003	0.0010	0.0002	0	0.0009	0.0056	0.0474	0.0062354	964	154602	rs200724467	0.0034	0.0034	0.0020	0.0048	0.0467	0.0033	0.0033	0.0455	0.0450	0.0001	0.0005	0.0010	0.0001	0	0.0083	0.0006	0.0037	0.0467	0.0021	0.0022	0.0013	0.0031	0.0542	0.0020	0.0019	0.0488	0.0467	0.0002	0	0.0006	0.0006	0.0002	0	0	0.0006	0.0009	0.0542	.	.	.	0.978	0.02725	T	0.004	0.12183	B	0.008	0.16862	B	.	.	.	.	1	0.08975	N	-0.12	0.04575	N	.	.	.	.	.	.	0.029	0.01911	.	.	.	.	.	.	.	0.0063636303	0.00144	T	.	.	.	.	.	.	.	0.396345573744	0.39253	0.14224547678667673	0.14147	.	.	.	.	.	0.003024	0.02422	T	-0.578101	0.00198	T	-0.56887	0.15553	T	.	.	.	0.19718	0.02190	T	0.055138256	0.10677	0.13391058	0.32101	0.055138256	0.10676	0.13391058	0.32100	-4.491	0.31382	T	.	.	0.077	0.06387	B	.;.	.;.	0.336922	0.07107	3.681	0.81841351350510849	0.13887	0.02416	0.06831	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0952349597335558	0.16223	0.145562	0.03210	1	0.097471	0.02872	0	0.072005	0.02045	0	0.234357	0.04698	0	0.129061	0.25605	4.63	1.54	0.22290	0.019000	0.13337	.	.	-0.151000	0.12117	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4323:0.0:0.4119:0.1558	4.216	0.09991	809	0.43032	.;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	0.04762	6293.11	118	chr5	141399395	.	G	A	6293.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.65;DP=1983;ExcessHet=0.1072;FS=1.101;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=0.206;SOR=0.589	GT:AD:DP:GQ:PL	0/1:133,111:244:99:2591,0,3162	19	0	2	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	0/1:188,95:283:99:387,0,3882	6	0	15	0
chr5	141408395	141408395	A	G	exonic	PCDHGB6	.	nonsynonymous SNV	PCDHGB6:NM_018926:exon1:c.A193G:p.K65E	.	.	427	992	96	7	0	110	0.052531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.289	B	0.33	B	.	.	1.000	N	2.395	M	1.66	T	-0.966	T	0.092	T	0.514	2.824	15.41	5.38	2.036	1.968	11.343	0.143	.	0.0039	0.0177716	0.0132	0.0018	0.0073	0.0002	0.0002	0.0060	0.0112	0.0649	0.0115652	1788	154602	rs200317374	0.0090	0.0090	0.0072	0.0109	0.0640	0.0089	0.0088	0.0626	0.0620	0.0013	0.0071	0.0148	0.0002	0.0005	0.0333	0.0054	0.0104	0.0640	0.0065	0.0065	0.0056	0.0074	0.0700	0.0061	0.0060	0.0638	0.0614	0.0015	0	0.0097	0.0138	0.0002	0	0.0238	0.0053	0.0099	0.0700	0.163	0.23450	T	0.139	0.33666	T	0.245	0.32288	B	0.222	0.42079	B	.	.	.	.	1	0.81001	D	2.305	0.65957	M	1.66	0.27486	T	-2.58	0.55662	D	0.319	0.35938	-0.9662	0.37974	T	0.092	0.35201	T	9	0.0031889975	0.00054	T	.	.	.	0.143	0.38195	.	.	.	.	0.6703808707331448	0.66976	0.709368004076	0.61626	.	.	.	0.027923	0.20342	T	-0.44909	0.01144	T	-0.370749	0.36801	T	0.0475444560771186	0.05062	T	0.354964	0.08219	T	0.2165191	0.44112	0.34913993	0.60543	0.2165191	0.44112	0.34913993	0.60543	-9.816	0.73834	D	.	.	0.290	0.52202	B	.;.	.;.	2.840616	0.37476	20.5	0.99325023159566861	0.59546	0.60219	0.31134	D	AEFDGBI	0.346170	0.44107	N	-0.0240420988650684	0.40769	2.426813	0.0169669784007313	0.40504	2.418219	0.999999795248276	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.519653	0.09787	0	0.56751	0.32155	0	.	.	5.38	5.38	0.77279	2.296000	0.43245	.	.	0.542000	0.25261	0.004000	0.16614	0.001000	0.17328	0.750000	0.35786	0.9269:0.0:0.0731:0.0	11.343	0.48780	814	0.42100	.;Cadherin, N-terminal|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	0.04762	4518.11	35	chr5	141408395	.	A	G	4518.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.424e+00;DP=1281;ExcessHet=0.1072;FS=1.103;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.60;MQRankSum=-7.886e+00;QD=10.91;ReadPosRankSum=0.912;SOR=0.613	GT:AD:DP:GQ:PL	0/1:102,82:184:99:1770,0,2725	19	0	2	0
chr5	141431930	141431930	C	A	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.C1171A:p.P391T	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.992	D	.	.	1.000	D	2.895	M	0.79	T	-0.210	T	0.339	T	0.534	2.942	15.80	3.96	1.240	3.244	14.924	0.360	0.0313314703212	.	.	0.0002	0	8.64e-05	0	0	2.999e-05	0	0.0015	0.000194	30	154602	rs761060241	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	6.709e-05	0	0	0	0.0005	8.454e-05	9.935e-05	0.0013	9.198e-05	9.194e-05	2.569e-05	0.0002	0.0017	5.527e-05	4.364e-05	0.0008	0.0006	4.827e-05	0	6.543e-05	0	0	0	0	4.409e-05	0	0.0017	0.0	0.91255	D	0.001	0.92824	D	0.998	0.73220	D	0.987	0.80445	D	.	.	.	.	1	0.81001	D	2.775	0.80997	M	0.79	0.49068	T	-7.53	0.95131	D	0.664	0.67304	-0.2101	0.77412	T	0.339	0.70510	T	9	0.27943584	0.45516	T	0.031331	0.53437	D	0.360	0.68052	0.814	0.92925	0.794422777162	0.79250	0.13680685460401348	0.13604	.	.	.	.	.	0.123924	0.44861	T	-0.320438	0.06862	T	-0.257691	0.49054	T	0.394380861057874	0.28730	T	0.959004	0.86318	D	0.6788195	0.76905	0.739071	0.84577	0.6788195	0.76907	0.739071	0.84578	-10.574	0.77271	D	.	.	0.370	0.59011	A	.;.	.;.	4.156617	0.62392	24.5	0.99710275408573001	0.81283	0.93780	0.59170	D	AEFDBI	0.460954	0.51092	N	0.561410418673282	0.70781	5.551961	0.449031870741221	0.64656	4.725656	0.999995646182114	0.74766	0.65757	0.49021	0	0.588015	0.36545	0	0.576033	0.28219	0	0.604282	0.37693	0	.	.	4.84	3.96	0.45097	3.364000	0.52052	.	.	0.599000	0.40250	0.623000	0.27939	1.000000	0.68203	0.997000	0.79791	0.0:0.856:0.144:0.0	14.924	0.70505	818	0.41518	.;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	0	0	0	0	0.02381	2437.98	34	chr5	141431930	.	C	A	2437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.265;DP=938;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-4.970e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/1:109,85:194:99:2452,0,3111	20	0	1	0
chr5	150372183	150372200	AGTGAGGAGGGATCTGAA	-	exonic	TCOF1	.	nonframeshift deletion	TCOF1:NM_001008657:exon7:c.817_834del:p.G276_E281del	Treacher Collins syndrome 1, Autosomal dominant	.	1	1515	5	1	0	7	0.00230491	.	.	425627	TCOF1-related_disorder|not_specified|not_provided|Treacher_Collins_syndrome_1	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.000998403	0.0018	0.0003	0.0013	0	0.0014	0.0024	0.0012	0.0018	0.0002305	6	26028	rs528897827	0.0037	0.0038	0.0039	0.0036	0.0045	0.0037	0.0036	0.0044	0.0043	0.0007	0.0015	0.0001	2.519e-05	0.0016	0.0005	0.0045	0.0031	0.0015	0.0026	0.0026	0.0025	0.0026	0.0049	0.0024	0.0023	0.0040	0.0036	0.0008	0.0022	0.0049	0	0	0.0032	0	0.0035	0.0024	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1343.94	34	chr5	150372182	.	TAGTGAGGAGGGATCTGAA	T	1343.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.520e-01;DP=814;ExcessHet=0.0000;FS=0.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=0.196;SOR=0.569	GT:AD:DP:GQ:PL	0/1:52,36:88:99:1358,0,2059	20	0	1	0
chr5	154917072	154917072	G	C	exonic	GEMIN5	.	nonsynonymous SNV	GEMIN5:NM_001252156:exon13:c.C1778G:p.P593R	.	.	431	1087	4	0	0	4	0.00183655	.	.	2825472	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.7	L	-0.76	T	0.086	D	0.521	D	0.626	3.992	20.4	5.08	1.520	6.130	15.002	0.401	0.0795522734574	0.0028	0.000998403	0.0026	0.0012	0.0009	0.0001	0.0014	0.0035	0.0022	0.0029	0.0024385	377	154602	rs142530738	0.0033	0.0033	0.0033	0.0033	0.0037	0.0032	0.0032	0.0036	0.0035	0.0004	0.0011	0.0058	0.0001	0.0018	0.0023	0.0037	0.0031	0.0031	0.0021	0.0021	0.0023	0.0019	0.0029	0.0019	0.0018	0.0026	0.0025	0.0007	0	0.0029	0.0058	0	0.0013	0	0.0029	0.0028	0.0010	0.015	0.52492	D	0.02	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999971	0.53665	D	1.905	0.50856	L	-0.76	0.73417	T	-4.7	0.79829	D	0.492	0.52563	0.086	0.83917	D	0.521	0.82110	D	10	0.013405383	0.00284	T	0.079552	0.73260	D	0.401	0.71479	.	.	0.85813251465	0.85676	0.5380153124538929	0.53726	0.43770971806	0.43814	0.546659111977	0.45386	T	0.170664	0.51849	T	-0.220047	0.17986	T	-0.0912802	0.64065	T	0.0155009347057922	0.00350	T	0.827017	0.49049	T	0.6690375	0.76381	0.32615092	0.58524	0.6690375	0.76382	0.32615092	0.58523	-12.122	0.85440	D	.	.	0.130	0.27791	B	.	.	4.662185	0.74425	26.2	0.99829653782715055	0.91112	0.92897	0.56815	D	AEFDBHCI	0.746158	0.68861	D	0.656795516520746	0.76809	6.555502	0.649985530509611	0.78608	6.910906	0.999999778201974	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.08	0.68373	6.229000	0.72245	9.853000	0.82002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.068:0.0:0.932:0.0	15.002	0.71140	873	0.30802	WD40-repeat-containing domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	533.98	34	chr5	154917072	.	G	C	533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.290e-01;DP=741;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.053;SOR=0.751	GT:AD:DP:GQ:PL	0/1:22,25:47:99:548,0,472	20	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,178,0:489:99:0|1:157052552_AC_A:6544,0,12347,6748,13020,19891:157052552	0	12	1	0
chr5	181195354	181195354	G	A	exonic	TRIM7	.	nonsynonymous SNV	TRIM7:NM_203297:exon5:c.C802T:p.R268W	.	.	432	1051	38	1	0	40	0.0186741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	1.0	D	0.000	D	0.941	N	1.01	L	-0.43	T	-0.703	T	0.243	T	0.444	1.514	11.01	0.698	-0.187	0.339	11.825	0.352	.	0.0036	0.0117812	0.0165	0.0014	0.0309	0.0237	0	0.0074	0.0152	0.0361	0.0080271	1241	154602	rs61751566	0.0060	0.0061	0.0052	0.0068	0.0315	0.0059	0.0058	0.0305	0.0301	0.0008	0.0167	0.0215	0.0114	0.0002	0.0147	0.0033	0.0098	0.0315	0.0052	0.0052	0.0048	0.0057	0.0321	0.0049	0.0048	0.0279	0.0264	0.0014	0.0154	0.0131	0.0170	0.0148	0.0003	0.0136	0.0031	0.0061	0.0321	0.025	0.48642	D	0.017	0.60337	D	1.0	0.90584	D	1.0	0.97372	D	0.000066	0.52346	D	0.000000	0.99971	0.20638	N	1.18	0.29980	L	-0.43	0.69657	T	-2.16	0.48850	N	0.21	0.23758	-0.7029	0.60299	T	0.243	0.61131	T	10	0.0049039125	0.00105	T	.	.	.	0.352	0.67326	.	.	.	.	0.6146241830987929	0.61394	1.70361355796	0.90347	0.636679887772	0.58093	T	0.109151	0.42279	T	-0.401669	0.02258	T	-0.325371	0.41983	T	0.0562181223179985	0.06560	T	0.884412	0.60756	D	0.0585932	0.11805	0.084190056	0.19349	0.0585932	0.11804	0.084190056	0.19349	-8.731	0.67788	D	.	.	0.349	0.65506	A	.;.;.;.	.;.;.;.	3.155350	0.42731	21.6	0.99636088301373116	0.76326	0.07290	0.13312	N	AEFDGBI	0.373871	0.45898	N	-0.626117239998297	0.18163	0.9407484	-0.817992306727555	0.14060	0.7326963	0.999906244961365	0.45458	0.554377	0.28877	0	0.588066	0.40923	0	0.596394	0.31383	0	0.567892	0.33627	0	.	.	4.79	0.698	0.17247	0.309000	0.19094	1.546000	0.27261	-1.131000	0.01456	0.000000	0.06391	0.941000	0.28781	0.074000	0.16894	0.0:0.0:0.3805:0.6195	11.825	0.51537	.	.	SPRY domain|B30.2/SPRY domain|SPRY 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	1225.98	34	chr5	181195354	.	G	A	1225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e+00;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.79;ReadPosRankSum=-6.000e-03;SOR=0.676	GT:AD:DP:GQ:PL	0/1:28,45:73:99:1240,0,746	20	0	1	0
chr6	4032374	4032374	G	A	exonic	PRPF4B	.	nonsynonymous SNV	PRPF4B:NM_003913:exon2:c.G857A:p.R286H,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.988	D	0.52	P	0.000	D	1.000	D	1.245	L	-0.44	T	-0.663	T	0.216	T	0.501	2.865	15.54	5.9	2.788	5.837	20.279	0.177	.	0.0018	0.000998403	0.0040	0.0002	0.0003	0.0023	0.0174	0.0049	0.0100	0.0001	0.0033311	515	154602	rs45509297	0.0028	0.0028	0.0027	0.0029	0.0026	0.0028	0.0027	0.0025	0.0025	8.961e-05	0.0003	0.0052	0.0009	0.0165	0.0003	0.0026	0.0022	0.0001	0.0033	0.0033	0.0026	0.0042	0.0040	0.0031	0.0030	0.0036	0.0034	0.0001	0	0.0002	0.0049	0.0023	0.0188	0	0.0040	0.0009	0.0004	0.002	0.72154	D	0.117	0.36365	T	0.988	0.62325	D	0.52	0.48197	P	0.000005	0.62929	D	0.000000	0.999783	0.49076	D	1.59	0.40313	L	-0.44	0.69777	T	-0.97	0.25770	N	0.278	0.31478	-0.6626	0.62161	T	0.216	0.57732	T	10	0.006115675	0.00138	T	.	.	.	0.177	0.44549	.	.	0.587019249841	0.58375	0.0039168402482609044	0.00366	0.881774026821	0.69799	0.524154186249	0.42212	T	0.044904	0.26958	T	-0.2849	0.10154	T	-0.175901	0.56901	T	0.0499941572531356	0.05499	T	0.945505	0.79230	D	0.13211302	0.30773	0.131003	0.31465	0.13211302	0.30773	0.131003	0.31464	-6.57	0.50823	T	.	.	0.158	0.34992	B	.	.	4.024187	0.59457	24.1	0.99930672251191555	0.99334	0.98727	0.86082	D	AEFBI	0.740606	0.68480	D	0.426179049560821	0.62865	4.509797	0.443718479225165	0.64315	4.683828	0.999999999962352	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	5.313000	0.65584	11.898000	0.99275	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.841000	0.39698	0.0:0.0:1.0:0.0	20.279	0.98503	510	0.75209	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	726.98	38	chr6	4032374	.	G	A	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.678;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.44;ReadPosRankSum=-3.520e-01;SOR=0.781	GT:AD:DP:GQ:PL	0/1:48,29:77:99:741,0,1243	20	0	1	0
chr6	7411419	7411419	G	C	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon14:c.G1045C:p.E349Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.898	P	0.352	B	0.000	D	1.000	D	0	N	3.34	T	-0.753	T	0.007	T	0.514	4.428	23.5	5.62	2.648	8.682	18.632	0.225	0.032129703999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.283	0.21478	T	0.898	0.49442	P	0.352	0.42883	B	0.000001	0.62929	D	0.096591	1	0.81001	D	0.145	0.08828	N	3.34	0.06063	T	-0.87	0.23590	N	0.338	0.37923	-0.7535	0.57752	T	0.007	0.02478	T	10	0.21544152	0.38097	T	0.03213	0.54036	D	0.225	0.52323	0.335	0.32329	0.388812400583	0.38497	0.3162422768940247	0.31537	0.230302317014	0.25578	0.527692854404	0.42709	T	0.013255	0.11500	T	-0.0972108	0.36887	T	-0.377413	0.36026	T	0.585103784492092	0.35815	D	0.855114	0.54241	D	0.1738056	0.38149	0.18711801	0.41924	0.1738056	0.38149	0.18711801	0.41923	-4.263	0.27655	T	.	.	0.130	0.27939	B	.	.	4.028609	0.59550	24.1	0.99713077346358581	0.81493	0.99847	0.99816	D	AEFBI	0.866036	0.78533	D	0.345006990906183	0.58475	4.020116	0.477039224821321	0.66470	4.956473	0.999999422754696	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	8.892000	0.92141	9.689000	0.81268	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.632	0.91319	664	0.61548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1333	104.37	43	chr6	7411419	.	G	C	104.37	.	AC=4;AF=0.133;AN=30;BaseQRankSum=-3.187e+00;DP=1695;ExcessHet=0.6776;FS=158.280;InbreedingCoeff=-0.2215;MLEAC=5;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.29;ReadPosRankSum=0.406;SOR=10.867	GT:AD:DP:GQ:PL	0/1:71,31:102:45:45,0,1204	11	0	4	6
chr6	16327687	16327687	-	TGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCA:p.Q208_H209insQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/4:40,0,0,0,29,0:69:99:989,1111,2653,1111,2653,2653,1111,2653,2653,2653,0,1543,1543,1543,1455,1111,2653,2653,2653,1543,2653	9	0	3	0
chr6	16327687	16327687	-	TGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCA:p.Q208_H209insQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/4:40,0,0,0,29,0:69:99:989,1111,2653,1111,2653,2653,1111,2653,2653,2653,0,1543,1543,1543,1455,1111,2653,2653,2653,1543,2653	9	0	3	0
chr6	16327687	16327687	-	TGCTGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCAGCA:p.Q208_H209insQQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/4:40,0,0,0,29,0:69:99:989,1111,2653,1111,2653,2653,1111,2653,2653,2653,0,1543,1543,1543,1455,1111,2653,2653,2653,1543,2653	9	0	3	0
chr6	18171430	18171430	A	C	exonic	KDM1B	.	nonsynonymous SNV	KDM1B:NM_001364614:exon7:c.A485C:p.Q162P	.	.	430	1056	32	4	0	40	0.0185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.001	B	0.335	N	1.000	D	1.39	L	1.51	T	-1.095	T	0.041	T	0.407	2.712	15.03	4.24	0.869	3.601	12.498	0.137	0.00648607289885	0.0034	0.00319489	0.0032	0.0005	0.0017	0	0.0002	0.0036	0.0055	0.0069	0.0030465	471	154602	rs149734475	0.0028	0.0028	0.0027	0.0030	0.0085	0.0028	0.0027	0.0069	0.0067	0.0004	0.0016	3.826e-05	0	0.0004	0.0085	0.0028	0.0030	0.0074	0.0021	0.0021	0.0023	0.0019	0.0050	0.0019	0.0019	0.0035	0.0033	0.0003	0	0.0010	0	0.0002	0.0002	0.0136	0.0038	0.0028	0.0050	0.042	0.41637	D	0.087	0.40747	T	.	.	.	.	.	.	0.335157	0.04154	N	1.560660	1	0.81001	D	1.7	0.43825	L	1.48	0.31731	T	-0.76	0.21215	N	0.54	0.56748	-1.0950	0.04752	T	0.041	0.17657	T	10	0.008307725	0.00188	T	0.006486	0.17072	T	0.137	0.36984	.	.	0.312529679308	0.30857	0.751307291187119	0.75077	1.13811683318	0.78839	0.326103448868	0.14345	T	.	.	.	-0.453143	0.01082	T	-0.41968	0.31112	T	0.020574591945722	0.00757	T	0.913209	0.69822	D	.	.	.	.	.	.	.	.	-5.21	0.39043	T	.	.	0.116	0.30686	B	.;.	.;.	3.203952	0.43583	21.8	0.99065892226933139	0.51598	0.78064	0.38461	D	AEFGBI	0.314278	0.41918	N	-0.161843836512971	0.34733	1.986093	-0.0136219713147727	0.39097	2.31317	0.999994216246781	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.42	4.24	0.49486	3.879000	0.55850	7.874000	0.72122	0.691000	0.84096	0.945000	0.32849	1.000000	0.68203	0.993000	0.69303	0.8603:0.1397:0.0:0.0	12.498	0.55282	749	0.51929	Zinc finger, CW-type|Zinc finger, CW-type;.	.	.	.	.	rs149734475	Uncertain significance	0	0	0	0	0	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	34	chr6	18171430	.	A	C	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.337e+00;DP=775;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-2.310e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:48,44:92:99:1049,0,1263	20	0	1	0
chr6	21595021	21595032	GGGGGCGGCCAT	-	exonic	SOX4	.	nonframeshift deletion	SOX4:NM_003107:exon1:c.487_498del:p.H166_G169del,	.	.	267	1249	4	2	0	8	0.00319234	.	.	2822740	not_provided|SOX4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0039	0.0019	0	0.0008	0	0.0059	0	0.0005	3.88e-05	6	154602	rs747523746	0.0058	0.0055	0.0059	0.0057	0.0069	0.0057	0.0056	0.0068	0.0067	0.0012	0.0015	0.0008	0.0014	0.0005	0.0030	0.0069	0.0039	0.0014	0.0034	0.0034	0.0037	0.0031	0.0059	0.0031	0.0030	0.0054	0.0052	0.0012	0	0.0024	0.0006	0.0006	0.0005	0	0.0059	0.0033	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1246.94	36	chr6	21595020	.	CGGGGGCGGCCAT	C	1246.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.503;DP=864;ExcessHet=0.0000;FS=1.311;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.09;ReadPosRankSum=-1.642e+00;SOR=1.000	GT:AD:DP:GQ:PL	0/1:21,33:54:99:1261,0,780	20	0	1	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.946	D	0.000	D	1.000	D	2.015	M	2.04	T	-1.026	T	0.105	T	0.742	3.788	19.23	5.46	2.571	5.817	19.326	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/2:42,3,19:64:99:129,179,1657,0,537,422	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	0/2:42,3,19:64:99:129,179,1657,0,537,422	2	0	6	2
chr6	24596121	24596121	-	GTCC	exonic	KIAA0319	.	frameshift insertion	KIAA0319:NM_001168376:exon2:c.417_418insGGAC:p.W140Gfs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1656.94	38	chr6	24596121	.	A	AGTCC	1656.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=886;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.82;ReadPosRankSum=-1.120e+00;SOR=0.848	GT:AD:DP:GQ:PL	0/1:49,44:93:99:1671,0,1908	20	0	1	0
chr6	26017608	26017608	G	A	exonic	H1-1	.	nonsynonymous SNV	H1-1:NM_005325:exon1:c.C125T:p.S42F,	.	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.995	D	0.005	N	1.000	D	3.525	H	1.76	T	-0.644	T	0.173	T	0.707	3.218	16.78	4.2	2.260	1.792	11.914	0.246	.	0.0004	0.00519169	0.0031	0	0.0011	0.0020	0	0.0005	0	0.0185	0.0027749	429	154602	rs117409123	0.0015	0.0015	0.0010	0.0021	0.0199	0.0015	0.0015	0.0191	0.0188	2.987e-05	0.0011	0.0019	0.0020	1.872e-05	0.0036	0.0002	0.0021	0.0199	0.0011	0.0011	0.0008	0.0015	0.0232	0.0010	0.0009	0.0197	0.0184	0.0001	0	0.0004	0.0009	0.0039	0	0.0034	0.0003	0.0019	0.0232	0.004	0.65419	D	0.023	0.57104	D	0.999	0.77913	D	0.995	0.83170	D	0.005132	0.33071	N	0.303017	0.999696	0.48338	D	3.655	0.94224	H	1.76	0.25996	T	-4.73	0.80085	D	0.63	0.64393	-0.6444	0.62957	T	0.173	0.51548	T	10	0.011164337	0.00245	T	.	.	.	0.246	0.55340	.	.	0.465975295344	0.46225	0.4152561661665899	0.41441	.	.	0.565297365189	0.48014	T	0.436153	0.78264	T	-0.23248	0.16323	T	-0.0924373	0.63978	T	0.0975846548426396	0.12089	T	0.907509	0.67274	D	0.714415	0.78851	0.70422626	0.82566	0.714415	0.78853	0.70422626	0.82567	-11.151	0.80479	D	.	.	0.844	0.79468	P	.	.	3.952823	0.57923	23.9	0.99579891445651514	0.72921	0.52608	0.29172	D	ALL	0.221011	0.34569	N	0.274098392782029	0.54840	3.648676	0.0141882615851617	0.40373	2.408363	0.999999999725645	0.74766	0.378867	0.05890	3	0.587068	0.34093	0	0.166054	0.03999	2	0.56214	0.19341	0	.	.	4.2	4.2	0.48814	2.184000	0.42205	9.227000	0.79333	0.676000	0.76740	0.703000	0.28654	1.000000	0.68203	0.002000	0.04165	0.0:0.294:0.706:0.0	11.914	0.52035	479	0.77495	Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2115.98	34	chr6	26017608	.	G	A	2115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.141e+00;DP=963;ExcessHet=0.0000;FS=2.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=0.275;SOR=0.529	GT:AD:DP:GQ:PL	0/1:97,94:191:99:2130,0,2510	20	0	1	0
chr6	26545291	26545291	T	C	exonic	HMGN4	.	nonsynonymous SNV	HMGN4:NM_006353:exon2:c.T85C:p.S29P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.997	D	0.000	D	0.996	D	.	.	.	.	-0.365	T	0.323	T	0.692	2.808	15.35	3.15	1.664	2.893	9.989	0.286	0.0388961168683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.008	0.67890	D	0.997	0.70673	D	0.997	0.86255	D	0.000007	0.62929	D	0.000000	0.996416	0.43191	D	.	.	.	.	.	.	-4.53	0.78388	D	0.641	0.65330	-0.3647	0.73123	T	0.323	0.69212	T	8	0.7389529	0.74820	D	0.038896	0.58494	D	0.286	0.60456	0.541	0.65304	0.326275561783	0.32232	0.22689486886573745	0.22604	0.432901375486	0.43465	0.642388820648	0.58903	T	0.532768	0.83861	D	0.152116	0.69465	D	-0.0192721	0.69076	D	0.991724848747253	0.82061	D	0.79582	0.43907	T	0.8983934	0.91239	0.8107355	0.88947	0.8983934	0.91241	0.8107355	0.88947	-10.676	0.77851	D	.	.	0.640	0.70503	P	.	.	4.065148	0.60355	24.2	0.99764135443354984	0.85335	0.75721	0.37089	D	AEFBCI	0.482858	0.52354	N	0.332952614309297	0.57846	3.953785	0.228619213290326	0.51441	3.326618	0.994572453587749	0.33701	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.15	3.15	0.35301	2.141000	0.41792	6.554000	0.55920	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:0.0:1.0	9.989	0.41032	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1191.98	33	chr6	26545291	.	T	C	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.040e-01;DP=871;ExcessHet=0.0000;FS=1.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=1.41;SOR=0.513	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1206,0,1347	20	0	1	0
chr6	26545468	26545468	G	A	exonic	HMGN4	.	nonsynonymous SNV	HMGN4:NM_006353:exon2:c.G262A:p.D88N,	.	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.284	B	0.218	B	0.000	D	0.972	N	.	.	.	.	-1.006	T	0.074	T	0.022	3.728	18.93	3.83	2.416	4.169	14.028	0.149	.	0.0047	0.0105831	0.0057	0.0143	0.0022	0.0075	0	0.0009	0.0049	0.0312	0.0049999	773	154602	rs34511704	0.0025	0.0026	0.0019	0.0032	0.0262	0.0025	0.0024	0.0253	0.0249	0.0120	0.0025	4.454e-05	0.0043	3.881e-05	0.0070	0.0006	0.0042	0.0262	0.0057	0.0057	0.0053	0.0061	0.0292	0.0054	0.0053	0.0253	0.0238	0.0138	0.0110	0.0032	0	0.0042	0	0.0034	0.0009	0.0052	0.0292	0.023	0.48186	D	0.052	0.47581	T	0.284	0.32165	B	0.218	0.37679	B	0.000005	0.62929	D	0.000000	0.97212	0.25618	N	.	.	.	.	.	.	-3.94	0.73378	D	0.191	0.20925	-1.0059	0.28186	T	0.074	0.29770	T	8	0.0047082305	0.00099	T	.	.	.	0.149	0.39377	.	.	0.229543500084	0.22568	0.12692977292968816	0.12618	0.592345308843	0.54628	0.386521339417	0.23178	T	0.27839	0.65104	T	-0.260621	0.12828	T	-0.612141	0.11812	T	0.0685672644446638	0.08448	T	0.857514	0.54691	D	0.33108982	0.55559	0.31346735	0.57343	0.33108982	0.55559	0.31346735	0.57343	-6.869	0.53070	T	.	.	0.096	0.15475	B	.	.	3.571292	0.50303	22.9	0.99899455706022633	0.97199	0.91555	0.53775	D	AEFBCI	0.364117	0.45278	N	-0.0508662545877477	0.39563	2.335146	-0.0386817125047097	0.37985	2.23153	0.999815831251024	0.43459	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.83	3.83	0.43287	4.447000	0.59762	3.842000	0.40046	0.676000	0.76740	1.000000	0.71638	0.995000	0.32472	0.997000	0.79791	0.0:0.0:1.0:0.0	14.028	0.64118	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3653.11	41	chr6	26545468	.	G	A	3653.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.689;DP=1147;ExcessHet=0.1072;FS=1.295;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.150;SOR=0.773	GT:AD:DP:GQ:PL	0/1:81,67:148:99:1531,0,1927	19	0	2	0
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.025	B	0.035	B	0.056	N	0.853	N	2.015	M	1.98	T	-1.009	T	0.021	T	0.046	2.299	13.64	2.64	0.628	1.417	7.159	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1562	569.39	60	chr6	27310582	.	G	A	569.39	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.043e+00;DP=1543;ExcessHet=1.1607;FS=221.345;InbreedingCoeff=-0.2306;MLEAC=6;MLEAF=0.188;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.47;SOR=10.307	GT:AD:DP:GQ:PL	0/1:65,29:94:99:173,0,1374	11	0	5	5
chr6	27957298	27957298	C	G	exonic	OR2B6	.	nonsynonymous SNV	OR2B6:NM_012367:exon1:c.C58G:p.R20G,	.	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.353	B	0.157	B	0.610	U	1.000	N	1.23	L	5.38	T	-0.898	T	0.002	T	0.287	0.768	8.058	3.05	0.907	0.219	5.479	0.028	.	0.0006	0.00998403	0.0054	0.0009	0.0004	0.0093	0	0.0002	0.0044	0.0331	0.004877	754	154602	rs150850606	0.0026	0.0026	0.0016	0.0036	0.0349	0.0025	0.0025	0.0339	0.0335	0.0010	0.0004	0	0.0055	0	0.0036	0.0002	0.0045	0.0349	0.0022	0.0022	0.0013	0.0032	0.0504	0.0020	0.0019	0.0452	0.0432	0.0010	0	6.54e-05	0	0.0064	0	0	0.0002	0.0033	0.0504	0.021	0.49117	D	0.244	0.24123	T	0.353	0.33698	B	0.157	0.34536	B	0.609690	0.10879	U	0.689868	0.999958	0.19072	N	1.43	0.35840	L	5.38	0.01033	T	-4.1	0.74900	D	0.085	0.06190	-0.8977	0.48224	T	0.002	0.00526	T	10	0.0022549927	0.00033	T	.	.	.	0.028	0.06331	.	.	0.275215494804	0.27121	0.3425048101534829	0.34163	0.123300978965	0.13890	0.182806894183	0.00122	T	0.094839	0.39497	T	-0.57761	0.00199	T	-0.580161	0.14530	T	0.019914893059643	0.00692	T	0.0368963	0.00256	T	0.24605127	0.47570	0.25376707	0.51030	0.24605127	0.47570	0.25376707	0.51030	-10.698	0.77976	D	.	.	0.165	0.36475	B	.	.	2.493447	0.32177	18.96	0.9869077426091637	0.44752	0.24863	0.22524	N	AEFGBI	0.115878	0.22766	N	-0.456082648638188	0.23534	1.264502	-0.473239551149825	0.22894	1.245783	0.0726778210527276	0.15609	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.93	3.05	0.34272	-0.511000	0.06404	-4.993000	0.01895	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.2007:0.6919:0.0:0.1074	5.479	0.16004	481	0.77356	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4268.11	33	chr6	27957298	.	C	G	4268.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.07;DP=989;ExcessHet=0.1072;FS=3.147;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-2.020e-01;SOR=0.884	GT:AD:DP:GQ:PL	0/1:74,82:156:99:2271,0,1830	19	0	2	0
chr6	29673620	29673620	C	T	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.G275A:p.R92Q	Diabetes mellitus, transient neonatal, 1	.	0	1503	19	0	0	19	0.00628099	.	.	299746	Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_1|not_provided|Monogenic_diabetes	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.0	B	0.621	N	1.000	N	0.345	N	3.71	T	-0.914	T	0.002	T	0.028	-0.680	1.037	-3.73	-1.298	0.162	3.284	0.010	.	0.0011	0.0139776	0.0068	0.0039	0.0018	0.0106	0	0.0003	0.0047	0.0378	0.0059702	923	154602	rs200541066	0.0032	0.0032	0.0021	0.0043	0.0398	0.0031	0.0031	0.0387	0.0382	0.0049	0.0021	3.832e-05	0.0062	3.825e-05	0.0049	0.0003	0.0061	0.0398	0.0037	0.0037	0.0028	0.0047	0.0599	0.0034	0.0033	0.0542	0.0520	0.0040	0	0.0026	0	0.0060	0	0.0034	0.0004	0.0033	0.0599	0.366	0.11696	T	0.716	0.08777	T	0.0	0.02946	B	0.0	0.01387	B	0.620697	0.10781	N	0.753424	1	0.08975	N	.	.	.	3.5	0.05014	T	0.22	0.07444	N	0.034	0.01068	-0.9143	0.46311	T	0.002	0.00738	T	10	0.0022684336	0.00033	T	.	.	.	0.010	0.01040	.	.	0.0846915920261	0.08053	0.07343996282041032	0.07280	0.484552586258	0.47362	0.288189262152	0.08659	T	0.033722	0.23030	T	-0.777633	0.00011	T	-0.86403	0.00801	T	0.00256213137071298	0.00027	T	0.580242	0.20999	T	0.02677811	0.01780	0.044516083	0.05784	0.03501257	0.04041	0.045016915	0.05964	-3.44	0.15683	T	.	.	0.109	0.26514	B	.;.;.	.;.;.	0.104313	0.05051	1.595	0.67320172402372191	0.08319	0.02443	0.06880	N	AEFBI	0.116802	0.22908	N	-2.34229440237499	0.00036	0.001566646	-2.35604353455089	0.00050	0.002183283	0.978084408889132	0.29885	0.533608	0.22052	0	0.610034	0.51514	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	3.36	-3.73	0.04112	0.248000	0.17971	.	.	-1.957000	0.00479	0.000000	0.06391	0.007000	0.19602	0.020000	0.11549	0.0874:0.3646:0.1792:0.3687	3.284	0.06518	856	0.34373	.;.;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	2160.11	42	chr6	29673620	.	C	T	2160.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.174;DP=933;ExcessHet=0.1072;FS=6.205;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.670;SOR=1.103	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1126,0,1136	19	0	2	0
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|1:86,9,0:95:96:0|1:29943530_G_A:96,0,3499,355,3526,3881:29943530	6	0	13	1
chr6	30340549	30340549	A	G	exonic	TRIM39;TRIM39-RPP21	.	nonsynonymous SNV	TRIM39-RPP21:NM_001199119:exon5:c.A848G:p.E283G	.	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.59	P	0.333	B	0.006	N	0.963	D	1.345	L	3.19	T	-0.877	T	0.135	T	0.421	4.427	23.5	6.17	2.371	2.972	13.214	0.058	.	0.0006	0.0115815	0.0065	0.0020	0.0005	0.0106	0	0.0003	0.0046	0.0380	0.0056274	870	154602	rs61758102	0.0030	0.0030	0.0018	0.0042	0.0407	0.0029	0.0029	0.0396	0.0391	0.0015	0.0006	0.0004	0.0060	0	0.0036	0.0002	0.0054	0.0407	0.0025	0.0025	0.0016	0.0036	0.0590	0.0023	0.0022	0.0534	0.0512	0.0010	0	0.0001	0.0006	0.0060	0	0	0.0003	0.0014	0.0590	0.031	0.45039	D	0.28	0.37173	T	0.373	0.34173	B	0.179	0.35808	B	0.006413	0.32054	N	0.260847	0.962912	0.38318	D	1.1	0.28011	L	0.0	0.62608	T	-3.28	0.68764	D	0.136	0.28732	-0.8770	0.49997	T	0.135	0.44875	T	10	0.0029112995	0.00047	T	.	.	.	0.058	0.16647	.	.	0.259504319725	0.25562	0.6511736240182044	0.65053	0.137210899291	0.15472	.	.	.	0.097204	0.39979	T	-0.359508	0.04157	T	-0.263422	0.48482	T	0.0260405041037394	0.01412	T	.	.	.	0.0684415	0.14910	0.121030994	0.29205	0.0684415	0.14910	0.121030994	0.29204	-5.635	0.48197	T	.	.	0.219	0.57775	B	.;.;.;.;.;.	.;.;.;.;.;.	3.711685	0.52989	23.3	0.99889453305637876	0.96359	0.83468	0.42583	D	AEFBHCI	0.456240	0.50819	N	0.149963396011878	0.48810	3.088757	0.311801805080077	0.56232	3.786317	0.999999999360383	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	3.015000	0.49286	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.214	0.59270	840	0.37365	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2179.11	35	chr6	30340549	.	A	G	2179.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.225;DP=853;ExcessHet=0.1072;FS=1.207;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.588;SOR=0.816	GT:AD:DP:GQ:PL	0/1:37,38:75:99:946,0,878	19	0	2	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	2|2:0,0,262:262:99:1|1:31026245_ACCACAGGCT_A:11776,11776,11776,789,789,0:31026245	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	1|1:0,711,0:711:99:1|1:31028713_C_T:30645,2139,0,30645,2139,30645:31028713	9	2	8	0
chr6	31029724	31029753	AGGCTCTGAGACCACCACAGCCTCCACTGC	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.4293_4322del:p.A1451_T1460del	.	.	421	1050	18	21	12	72	0.0277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0008	0.0009	0.0010	0.0037	0.0009	0.0009	0.0032	0.0030	0.0018	0.0037	0.0038	0.0010	0.0020	0.0032	0.0007	0.0016	0.0004	0.0045	0.0038	0.0046	0.0044	0.0074	0.0041	0.0040	0.0059	0.0053	0.0046	0	0.0074	0.0098	0.0021	0.0013	0.0366	0.0042	0.0048	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	37356.82	708	chr6	31029723	.	AAGGCTCTGAGACCACCACAGCCTCCACTGC	A,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	37356.82	.	AC=1,1,3;AF=0.033,0.033,0.100;AN=30;BaseQRankSum=1.54;DP=15267;ExcessHet=0.0409;FS=0.557;InbreedingCoeff=0.0715;MLEAC=1,1,4;MLEAF=0.033,0.033,0.133;MQ=59.44;MQRankSum=-5.220e-01;QD=27.86;ReadPosRankSum=-1.086e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/3:32,0,0,158:190:99:4653,4951,6186,4951,6186,6186,0,1234,1234,769	11	0	1	6
chr6	31029753	31029753	-	AGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4322_4323insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1460_S1461insAGSETTTASTAGSETTTASTAGSETTTAST	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	37356.82	708	chr6	31029723	.	AAGGCTCTGAGACCACCACAGCCTCCACTGC	A,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	37356.82	.	AC=1,1,3;AF=0.033,0.033,0.100;AN=30;BaseQRankSum=1.54;DP=15267;ExcessHet=0.0409;FS=0.557;InbreedingCoeff=0.0715;MLEAC=1,1,4;MLEAF=0.033,0.033,0.133;MQ=59.44;MQRankSum=-5.220e-01;QD=27.86;ReadPosRankSum=-1.086e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/3:32,0,0,158:190:99:4653,4951,6186,4951,6186,6186,0,1234,1234,769	11	0	1	6
chr6	31029753	31029753	-	AGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4322_4323insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1460_S1461insAGSETTTASTAGSETTTAST	.	.	0	206	1	0	19	20	0.00242131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	37356.82	708	chr6	31029723	.	AAGGCTCTGAGACCACCACAGCCTCCACTGC	A,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	37356.82	.	AC=1,1,3;AF=0.033,0.033,0.100;AN=30;BaseQRankSum=1.54;DP=15267;ExcessHet=0.0409;FS=0.557;InbreedingCoeff=0.0715;MLEAC=1,1,4;MLEAF=0.033,0.033,0.133;MQ=59.44;MQRankSum=-5.220e-01;QD=27.86;ReadPosRankSum=-1.086e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/3:32,0,0,158:190:99:4653,4951,6186,4951,6186,6186,0,1234,1234,769	11	0	1	6
chr6	31029811	31029811	-	GCAGGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4380_4381insGCAGGC:p.T1460_S1461insAG	.	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs28994679	0.0017	0.0017	0.0015	0.0019	0.0071	0.0016	0.0016	0.0053	0.0046	0.0004	0.0019	0.0047	0.0004	0.0061	0.0071	0.0013	0.0023	0.0048	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0006	0.0005	0.0002	0.0014	0.0005	0.0015	0.0002	0.0008	0	0.0008	0.0006	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	42976.19	583	chr6	31029811	.	T	TGCAGGC,*	42976.19	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-4.195e+00;DP=15094;ExcessHet=1.1607;FS=0.524;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=59.64;MQRankSum=-2.283e+00;QD=9.77;ReadPosRankSum=-2.270e-01;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:304,813,0:1117:99:.:.:17763,0,5917,18661,7953,26613	16	0	3	0
chr6	31029811	31029811	T	0	exonic	MUC22	.	.	.	.	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	42976.19	583	chr6	31029811	.	T	TGCAGGC,*	42976.19	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-4.195e+00;DP=15094;ExcessHet=1.1607;FS=0.524;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=59.64;MQRankSum=-2.283e+00;QD=9.77;ReadPosRankSum=-2.270e-01;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:304,813,0:1117:99:.:.:17763,0,5917,18661,7953,26613	16	0	3	0
chr6	31029812	31029812	-	CTGAGACCACCACAGCCTCCACTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4381_4382insCTGAGACCACCACAGCCTCCACTG:p.S1461_G1462insETTTASTA	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0016	0.0071	0.0015	0.0014	0.0052	0.0046	0.0002	0.0014	0.0048	0.0004	0.0062	0.0071	0.0012	0.0021	0.0041	0.0005	0.0005	0.0006	0.0005	0.0013	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0005	0.0018	0.0002	0.0009	0	0.0007	0.0007	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:303,0,813,0:1117:99:.:.:17764,18659,26534,0,7897,5894,18659,26534,7897,26534	8	0	6	2
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:303,0,813,0:1117:99:.:.:17764,18659,26534,0,7897,5894,18659,26534,7897,26534	8	0	6	2
chr6	31116313	31116313	G	T	exonic	CDSN	.	nonsynonymous SNV	CDSN:NM_001264:exon2:c.C1302A:p.S434R,	Hypotrichosis 2, Autosomal dominant;Peeling skin syndrome 1, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	710398	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.971	D	0.775	P	0.292	N	1.000	N	0.805	L	3.18	T	-0.990	T	0.011	T	0.421	2.725	15.07	1.28	0.476	0.532	5.630	0.107	.	0.0011	0.000998403	0.0028	9.747e-05	0.0011	0	0.0223	0.0027	0.0034	0.0002	0.002445	378	154602	rs150846158	0.0022	0.0022	0.0022	0.0022	0.0020	0.0021	0.0021	0.0017	0.0017	0.0002	0.0020	3.829e-05	0	0.0173	0.0012	0.0018	0.0018	0.0006	0.0030	0.0030	0.0023	0.0037	0.0024	0.0027	0.0027	0.0021	0.0020	0.0003	0.0011	0.0018	0	0.0002	0.0229	0	0.0024	0.0005	0.0002	0.005	0.63226	D	0.011	0.64786	D	.	.	.	.	.	.	0.292282	0.14746	N	0.573438	1	0.81001	D	.	.	.	3.18	0.07478	T	-3.46	0.67705	D	0.334	0.37509	-0.9901	0.32576	T	0.011	0.04369	T	10	0.0070687234	0.00161	T	.	.	.	0.107	0.30369	0.326	0.30873	0.280181792013	0.27631	0.2104646889606678	0.20962	0.687456490586	0.60386	0.341345727444	0.16640	T	0.081672	0.36652	T	-0.477192	0.00768	T	-0.462221	0.26357	T	0.0607472863872461	0.07285	T	0.731927	0.34732	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.65158	A	.	.	3.396617	0.47056	22.4	0.99714549867426672	0.81563	0.57276	0.30334	D	AEFDBI	0.126843	0.24395	N	0.0610725092561053	0.44653	2.735463	0.0182607160661245	0.40562	2.422795	0.999951877079739	0.48110	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.09	1.28	0.20656	0.673000	0.24883	.	.	0.606000	0.46413	0.994000	0.38300	1.000000	0.68203	0.954000	0.50415	0.3559:0.0:0.6441:0.0	5.630	0.16782	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1825.98	74	chr6	31116313	.	G	T	1825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.888;DP=1692;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.34;ReadPosRankSum=-1.555e+00;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,50:119:99:0|1:31116298_G_C:1840,0,2618:31116298	20	0	1	0
chr6	31138724	31138724	-	C	exonic	PSORS1C1	.	frameshift insertion	PSORS1C1:NM_014068:exon5:c.112dupC:p.H40Pfs*3,	.	.	442	561	311	61	147	580	0.278457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	80570.49	135	chr6	31138723	.	TC	TCC,T	80570.49	.	AC=15,5;AF=0.357,0.119;AN=42;BaseQRankSum=0.541;DP=5630;ExcessHet=8.0185;FS=0.525;InbreedingCoeff=-0.3364;MLEAC=15,5;MLEAF=0.357,0.119;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=0.407;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:162,0,164:326:99:0|1:31138722_G_A:6320,6807,13469,0,6662,6168:31138722	4	3	9	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	1/1:0,117,0:117:99:.:.:3410,350,0,3410,350,3410	0	13	5	0
chr6	31271120	31271120	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G572C:p.W191S	.	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.13	B	0.172	B	0.034	N	1.000	N	1.92	M	9.23	T	-1.055	T	0.000	T	0.632	-0.747	0.827	-5.41	-1.558	-0.230	10.604	0.263	.	.	.	0.0305	0.0409	0.0235	0.0133	0.0139	0.0322	0.04	0.0377	0.0235055	3634	154602	rs150127748	3.447e-05	0.0007	3.541e-05	3.353e-05	0.0001	2.543e-05	2.22e-05	5.793e-05	3.72e-05	8.66e-05	0.0001	0	4.805e-05	0	0	3.358e-05	2.307e-05	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.056	0.38407	T	0.235	0.24767	T	0.004	0.12183	B	0.039	0.23607	B	0.034101	0.01782	N	2.640200	0.999999	0.08975	N	.	.	.	9.23	0.00012	T	-8.99	0.98511	D	0.071	0.04426	-1.0547	0.13119	T	0.000	0.00039	T	10	0.017437935	0.00372	T	.	.	.	0.263	0.57612	.	.	.	.	0.47916892798528415	0.47836	0.827582985191	0.67484	0.422887742519	0.28234	T	0.088885	0.38255	T	-0.118559	0.33359	T	-0.408078	0.32447	T	0.055689136153455	0.06473	T	0.00846582	0.00040	T	.	.	.	.	.	.	.	.	-4.058	0.24668	T	.	.	0.164	0.38764	B	.;.;.	.;.;.	1.869959	0.23756	16.14	0.42989600505578496	0.03206	0.03967	0.09375	N	AEFGBHCI	0.128437	0.24621	N	-2.01232931330579	0.00199	0.008528513	-2.15168832890066	0.00144	0.006314187	0.999999987597125	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	-5.41	0.02442	0.536000	0.22838	.	.	-1.213000	0.01349	0.798000	0.29695	0.000000	0.08366	0.000000	0.00833	0.2407:0.1633:0.596:0.0	10.604	0.44576	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2562.44	178	chr6	31271120	.	C	G	2562.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-2.483e+00;DP=3459;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=54.11;MQRankSum=-2.934e+00;QD=3.07;ReadPosRankSum=2.86;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,53:174:99:.:.:860,0,3051	16	0	5	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	37138.39	180	chr6	31271153	.	A	C,T,*	37138.39	.	AC=19,1,4;AF=0.452,0.024,0.095;AN=42;BaseQRankSum=3.30;DP=3892;ExcessHet=30.0624;FS=1.107;InbreedingCoeff=-0.7500;MLEAC=19,1,4;MLEAF=0.452,0.024,0.095;MQ=52.03;MQRankSum=-2.061e+00;QD=9.74;ReadPosRankSum=-8.020e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:0,119,0,60:179:99:.:.:7487,2499,2135,7478,2504,7505,4956,0,4994,4843	0	0	16	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E,	.	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.002	B	0.027	N	1.000	N	-1.24	N	2.69	T	-0.949	T	0.003	T	0.362	-0.629	1.213	-1.11	-0.413	-2.426	4.780	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1204.88	149	chr6	31355338	.	T	C	1204.88	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-2.984e+00;DP=2987;ExcessHet=1.7912;FS=11.295;InbreedingCoeff=-0.1703;MLEAC=5;MLEAF=0.125;MQ=58.62;MQRankSum=-9.798e+00;QD=1.30;ReadPosRankSum=1.79;SOR=1.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,15:170:99:0|1:31355338_T_C:163,0,6305:31355338	14	0	6	1
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|1:164,26:190:99:0|1:31355425_T_C:580,0,6572:31355425	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	1|1:0,34,0:34:99:1|1:31356168_A_C:1530,102,0,1530,102,1530:31356168	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	2/2:2,0,31:33:54:.:.:1350,1356,1395,54,93,0	1	0	12	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9973.12	43	chr6	31356431	.	G	T,*	9973.12	.	AC=16,13;AF=0.381,0.310;AN=42;BaseQRankSum=1.15;DP=1007;ExcessHet=1.3217;FS=1.278;InbreedingCoeff=-0.0027;MLEAC=16,13;MLEAF=0.381,0.310;MQ=57.28;MQRankSum=-3.660e-01;QD=10.84;ReadPosRankSum=0.037;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,48,0:48:99:1|1:31356423_G_C:2140,144,0,2140,144,2140:31356423	2	3	5	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8236.57	83	chr6	31356716	.	CA	C,*	8236.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=0.225;DP=1092;ExcessHet=0.3152;FS=5.506;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.99;MQRankSum=-6.619e+00;QD=10.81;ReadPosRankSum=-2.540e-01;SOR=1.129	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,42,0:42:99:1|1:31356711_C_CGG:1890,126,0,1890,126,1890:31356711	9	1	5	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6123.37	83	chr6	31356717	.	AGGT	A,*	6123.37	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=1.37;DP=1099;ExcessHet=0.3152;FS=5.478;InbreedingCoeff=0.1923;MLEAC=7,9;MLEAF=0.167,0.214;MQ=53.41;MQRankSum=-6.729e+00;QD=7.95;ReadPosRankSum=0.357;SOR=1.082	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,42:42:99:1|1:31356711_C_CGG:1890,1890,1890,126,126,0:31356711	9	1	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8459.57	86	chr6	31356719	.	GT	G,*	8459.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=1.98;DP=1112;ExcessHet=0.3152;FS=5.449;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.97;MQRankSum=-6.719e+00;QD=10.80;ReadPosRankSum=-1.130e-01;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,41,0:41:99:1|1:31356711_C_CGG:1845,123,0,1845,123,1845:31356711	9	1	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	858.89	101	chr6	31356748	.	CCT	*,C	858.89	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=54.46;QD=0.42;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,53,0:53:99:1|1:31356711_C_CGG:2385,160,0,2385,160,2385:31356711	0	20	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	29744.11	115	chr6	31356827	.	T	C,*	29744.11	.	AC=12,23;AF=0.286,0.548;AN=42;DP=3294;ExcessHet=2.5830;FS=0.696;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=51.01;QD=9.20;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,79,0:79:99:1|1:31356809_C_T:3535,238,0,3535,238,3535:31356809	0	5	0	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5842.28	59	chr6	31412383	.	TG	T,*	5842.28	.	AC=6,7;AF=0.143,0.167;AN=42;BaseQRankSum=-1.010e+00;DP=1486;ExcessHet=1.3217;FS=1.215;InbreedingCoeff=-0.0027;MLEAC=6,7;MLEAF=0.143,0.167;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=-1.114e+00;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,72:72:99:.:.:3197,3197,3197,217,217,0	10	0	5	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	28073.94	58	chr6	31412384	.	G	GCT,*,GCTGCTGCTGCT	28073.94	.	AC=14,13,5;AF=0.333,0.310,0.119;AN=42;BaseQRankSum=1.31;DP=1521;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=14,13,5;MLEAF=0.333,0.310,0.119;MQ=60.00;MQRankSum=0.00;QD=21.78;ReadPosRankSum=-1.530e-01;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,72,0:72:99:.:.:3197,3197,3197,217,217,0,3197,3197,217,3197	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|1:71,29:100:99:0|1:31625601_T_C:649,0,2392:31625601	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|1:71,29,0:100:99:0|1:31625601_T_C:649,0,2392,862,2478,3339:31625601	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|1:71,29,0:100:99:0|1:31625601_T_C:649,0,2392,862,2478,3339:31625601	0	0	18	2
chr6	32043548	32043548	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon5:c.G826A:p.G276S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	46	1439	32	5	0	42	0.0143836	.	.	1683144	not_provided|See_cases	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.58	T	0.969	D	0.572	P	0.001	D	1.000	D	1.495	L	0.5	T	-1.072	T	0.091	T	0.191	2.825	15.41	4.51	2.551	2.091	11.335	0.137	.	0.0018	0.00339457	0.0068	0.0016	0.0103	0.0017	0.0003	0.0063	0.0075	0.0139	0.0007684	20	26028	rs199688928	0.0039	0.0035	0.0034	0.0043	0.0194	0.0038	0.0037	0.0155	0.0140	0.0004	0.0055	0.0097	0.0003	0.0002	0.0194	0.0032	0.0058	0.0100	0.0032	0.0034	0.0027	0.0037	0.0095	0.0029	0.0028	0.0069	0.0061	0.0005	0	0.0078	0.0082	0.0014	0	0.0106	0.0035	0.0052	0.0095	0.298	0.18000	T	0.0	0.92824	D	.	.	.	.	.	.	0.000500	0.43931	D	0.101185	1	0.81001	D	.	.	.	0.5	0.55608	T	-4.0	0.81269	D	0.428	0.46742	-1.0719	0.09001	T	0.091	0.34847	T	10	0.009701818	0.00218	T	.	.	.	0.137	0.36984	.	.	0.316918214084	0.31302	0.4136048951951291	0.41276	1.07586337657	0.76961	0.59685254097	0.52460	T	0.064485	0.32447	T	-0.471116	0.00837	T	-0.442537	0.28526	T	0.0281921996046609	0.01716	T	0.668433	0.72366	T	0.20872347	0.43117	0.20812012	0.45100	0.20204142	0.42235	0.19100328	0.42534	-6.141	0.47444	T	0.12400312571121505	0.12101	0.297	0.52728	B	.;.;.;.;.	.;.;.;.;.	4.120674	0.61586	24.4	0.9950172087484398	0.68089	0.75628	0.37039	D	AEFGBI	0.269367	0.38566	N	0.186475487493959	0.50551	3.243918	0.191575787999785	0.49384	3.142268	0.170872636974423	0.17733	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.44	4.51	0.54589	2.440000	0.44513	.	.	0.599000	0.40250	0.294000	0.25270	1.000000	0.68203	0.696000	0.34018	0.0:0.8166:0.1834:0.0	11.335	0.48734	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.119	988.81	8	chr6	32043548	.	C	T	988.81	.	AC=5;AF=0.119;AN=42;BaseQRankSum=1.97;DP=252;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.2965;MLEAC=5;MLEAF=0.119;MQ=39.42;MQRankSum=0.057;QD=17.05;ReadPosRankSum=-3.950e-01;SOR=0.629	GT:AD:DP:GQ:PL	1/1:0,8:8:24:345,24,0	17	1	3	0
chr6	32223891	32223893	AGC	-	exonic	NOTCH4	.	nonframeshift deletion	NOTCH4:NM_004557:exon1:c.36_38del:p.L16del,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	2/2:0,0,36,0,0:36:99:1595,1595,1595,109,109,0,1595,1595,109,1595,1595,1595,109,1595,1595	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	2/2:0,0,36,0,0:36:99:1595,1595,1595,109,109,0,1595,1595,109,1595,1595,1595,109,1595,1595	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	2/2:0,0,36,0,0:36:99:1595,1595,1595,109,109,0,1595,1595,109,1595,1595,1595,109,1595,1595	0	1	4	0
chr6	32405014	32405014	C	T	exonic	BTNL2	.	nonsynonymous SNV	BTNL2:NM_001304561:exon2:c.G352A:p.D118N,	.	.	421	1020	78	3	0	84	0.039548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.17	B	0.058	B	0.000	D	1.000	N	3.315	M	-2.3	D	-0.091	T	0.592	D	0.36	2.009	12.67	4.91	2.755	4.749	16.143	0.474	.	0.0062	0.00439297	0.0111	0.0009	0.0104	0.0005	0.0005	0.0154	0.0206	0.0100	0.0101034	1562	154602	rs143211074	0.0082	0.0082	0.0077	0.0087	0.0579	0.0081	0.0080	0.0528	0.0508	0.0010	0.0129	0.1297	0.0002	0.0003	0.0579	0.0051	0.0175	0.0105	0.0095	0.0095	0.0091	0.0100	0.0184	0.0091	0.0090	0.0166	0.0159	0.0010	0.0351	0.0184	0.1454	0.0015	0.0005	0.0374	0.0069	0.0213	0.0101	0.018	0.50676	D	0.005	0.72224	D	0.17	0.28703	B	0.058	0.26451	B	0.000214	0.47681	D	0.000000	1	0.81001	D	3.75	0.95014	H	-2.3	0.87671	D	-3.92	0.73151	D	0.804	0.79986	-0.0913	0.80298	T	0.592	0.85408	D	10	0.0039207637	0.00075	T	.	.	.	0.474	0.76685	.	.	.	.	0.6442538995369435	0.64360	0.759485905604	0.64176	0.556377768517	0.46756	T	0.125532	0.45130	T	-0.236106	0.15849	T	-0.0983005	0.63528	T	0.0876847104608261	0.10940	T	.	.	.	0.47867396	0.65820	0.461523	0.68731	0.47867396	0.65821	0.461523	0.68731	-7.326	0.56380	T	.	.	0.168	0.37005	B	.;.	.;.	3.349719	0.46200	22.3	0.99564600918578816	0.72014	0.81899	0.41213	D	AEFDBI	0.519369	0.54468	D	0.0408323083134688	0.43721	2.659608	0.0114731822199794	0.40248	2.398883	0.443686818642509	0.20475	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.91	4.91	0.63897	5.474000	0.66508	.	.	0.541000	0.25215	0.998000	0.41325	1.000000	0.68203	0.014000	0.10232	0.0:1.0:0.0:0.0	16.143	0.81356	934	0.15400	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	NOTCH4|AGER|AGER|NOTCH4|NOTCH4|AGER|AGER|AGER|HLA-DQA1|NOTCH4|AGER	Adipose_Visceral_Omentum|Artery_Aorta|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood	HLA-DQA1|HLA-DQA2	Ovary|Ovary	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	16283.53	159	chr6	32405014	.	C	T	16283.53	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.568;DP=1620;ExcessHet=0.2785;FS=2.492;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=16.57;ReadPosRankSum=0.822;SOR=0.539	GT:AD:DP:GQ:PL	1/1:0,174:174:99:5624,522,0	15	1	5	0
chr6	32519649	32519649	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9579.39	39	chr6	32519649	.	C	A,*	9579.39	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=4.43;DP=516;ExcessHet=0.0001;FS=2.640;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.21;MQRankSum=4.41;QD=30.44;ReadPosRankSum=-1.495e+00;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,53,0:53:99:.:.:2385,160,0,2375,160,2371	8	5	2	5
chr6	32519650	32519650	A	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9378.63	38	chr6	32519650	.	A	G,*	9378.63	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=3.57;DP=510;ExcessHet=0.0001;FS=2.644;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.16;MQRankSum=4.36;QD=31.47;ReadPosRankSum=-1.495e+00;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,53,0:53:99:1|1:32519613_T_G:2385,160,0,2385,160,2385:32519613	8	5	2	5
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	2/4:0,0,21,0,17:38:99:.:.:1596,1596,1596,714,714,651,1596,1596,714,1596,882,882,0,882,831	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	0|1:22,19,0:41:99:0|1:32521930_A_C:691,0,867,757,924,1681:32521930	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	0|3:22,0,0,19:41:99:0|1:32521930_A_C:633,699,1623,699,1623,1623,0,924,924,867:32521930	4	5	4	1
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	50186.86	152	chr6	32522156	.	T	A,G,*,C	50186.86	.	AC=14,6,6,1;AF=0.368,0.158,0.158,0.026;AN=38;BaseQRankSum=-2.391e+00;DP=2479;ExcessHet=0.0000;FS=4.483;InbreedingCoeff=0.8143;MLEAC=15,7,7,1;MLEAF=0.395,0.184,0.184,0.026;MQ=47.59;MQRankSum=-1.347e+01;QD=31.15;ReadPosRankSum=3.03;SOR=0.362	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,161,50,0,0:211:99:.:.:8860,2100,1615,6730,0,6573,8847,2100,6729,8842,8847,2100,6729,8842,8842	5	1	0	2
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,141,11,0:152:25:1|1:32530184_T_G:6473,438,0,5886,25,5926,6398,443,5933,6418:32530184	0	3	1	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	53589.95	112	chr6	32530185	.	T	TGC,*,C	53589.95	.	AC=5,18,14;AF=0.119,0.429,0.333;AN=42;BaseQRankSum=0.157;DP=2296;ExcessHet=1.1607;FS=2.990;InbreedingCoeff=-0.1351;MLEAC=5,18,14;MLEAF=0.119,0.429,0.333;MQ=55.53;MQRankSum=0.00;QD=24.29;ReadPosRankSum=-2.360e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	3|3:0,0,11,141:152:28:1|1:32530184_T_G:6383,6350,6418,5883,5972,5971,432,440,28,0:32530184	0	1	0	0
chr6	32580272	32580272	T	C	splicing	HLA-DRB1	NM_001243965:exon7:c.737-2A>G;NM_002124:exon5:c.764-2A>G	.	.	.	YES	45	1469	6	2	0	10	0.00339213	0.9999	0.734	3225348	Multiple_sclerosis,_susceptibility_to	MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.307	5.666	2.93	0.567	2.966	6.479	.	.	.	.	0.0007	0.0003	0.0006	0.0009	0	0.0010	0.0015	0.0002	0.0001537	4	26028	rs756519999	7.434e-06	0.0001	6.525e-06	8.301e-06	0.0003	3.09e-06	1.99e-06	.	.	0	0	0	0	8.718e-05	0.0003	1.472e-06	0	1.443e-05	1.84e-05	0.0002	0	3.79e-05	3.977e-05	3.06e-06	1.14e-06	6.59e-06	2.47e-06	0	0	0	0	0	0	0	3.977e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.190081	0.22246	T	-0.510815	0.21232	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.437851	0.90896	32	0.85149035426513187	0.15715	0.64364	0.32383	D	AEFBCI	.	.	.	0.580347858300031	0.71948	5.729366	0.300592803444116	0.55574	3.720369	0.399600310485906	0.20119	0.256867	0.04430	0	0.271743	0.05004	0	0.091713	0.02954	0	0.058706	0.01089	0	0.110662	0.23644	4.1	2.93	0.33092	3.342000	0.51877	.	.	0.478000	0.22058	0.985000	0.35982	0.128000	0.22971	0.049000	0.15107	0.0:0.116:0.0:0.884	6.479	0.21252	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1473.8	112	chr6	32580272	.	T	C	1473.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=0.295;DP=2507;ExcessHet=0.1072;FS=8.712;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=52.44;MQRankSum=0.203;QD=9.21;ReadPosRankSum=2.01;SOR=1.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,33:48:99:0|1:32580272_T_C:1336,0,531:32580272	18	0	2	1
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	0/2:664,0,145:809:99:.:.:4090,6089,33970,0,27881,27445	14	1	3	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	28452.78	197	chr6	32584171	.	G	*,T,A	28452.78	.	AC=8,10,1;AF=0.200,0.250,0.025;AN=40;BaseQRankSum=-1.190e-01;DP=4168;ExcessHet=6.7470;FS=3.321;InbreedingCoeff=-0.2727;MLEAC=8,10,1;MLEAF=0.200,0.250,0.025;MQ=53.84;MQRankSum=-1.211e+00;QD=8.51;ReadPosRankSum=1.10;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,0,62,0:81:99:0|1:32584151_G_A:2546,2603,3352,0,749,562,2603,3352,749,3352:32584151	4	0	6	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	39726.1	222	chr6	32584177	.	CG	C,*	39726.1	.	AC=8,13;AF=0.190,0.310;AN=42;BaseQRankSum=2.29;DP=4443;ExcessHet=11.2363;FS=1.783;InbreedingCoeff=-0.4286;MLEAC=8,13;MLEAF=0.190,0.310;MQ=53.58;MQRankSum=-2.856e+00;QD=10.49;ReadPosRankSum=-6.830e-01;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:10,0,64:74:99:0|1:32584151_G_A:2657,2687,3107,0,420,227:32584151	3	0	6	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19514.62	219	chr6	32584178	.	G	GCT,*	19514.62	.	AC=5,20;AF=0.119,0.476;AN=42;BaseQRankSum=-6.100e-02;DP=4440;ExcessHet=2.4516;FS=0.559;InbreedingCoeff=-0.0871;MLEAC=5,20;MLEAF=0.119,0.476;MQ=50.67;MQRankSum=1.24;QD=5.44;ReadPosRankSum=2.19;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:10,0,64:74:99:0|1:32584151_G_A:2657,2687,3107,0,420,227:32584151	3	0	1	0
chr6	32584318	32584318	C	0	exonic	HLA-DRB1	.	.	.	.	.	12	1221	160	8	121	297	0.0672269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3600.15	264	chr6	32584318	.	C	*,T	3600.15	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=-8.230e-01;DP=7428;ExcessHet=4.7172;FS=0.567;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.167,0.048;MQ=53.39;MQRankSum=-4.724e+00;QD=1.58;ReadPosRankSum=1.92;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,87,0:201:99:.:.:3382,0,3517,3653,3779,7432	12	0	7	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|1:0,60,0:60:99:1|1:32584353_C_A:2692,180,0,2692,181,2693:32584353	1	9	7	1
chr6	32584354	32584354	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-2G>0	.	.	.	.	175	338	454	378	177	1387	0.641569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	154460.88	195	chr6	32584354	.	C	G,A,*	154460.88	.	AC=18,5,1;AF=0.474,0.132,0.026;AN=38;BaseQRankSum=-2.830e-01;DP=6461;ExcessHet=1.8260;FS=3.068;InbreedingCoeff=-0.0814;MLEAC=19,5,1;MLEAF=0.500,0.132,0.026;MQ=53.66;MQRankSum=4.10;QD=29.69;ReadPosRankSum=-9.790e-01;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,43,0,0:60:99:.:.:1747,0,543,1798,672,2470,1798,672,2470,2470	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|2:0,0,57:57:99:1|1:32584353_C_A:2565,2565,2565,172,172,0:32584353	2	0	3	2
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T,	.	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.049	B	0.034	B	0.131	N	1.000	N	1.61	L	8.43	T	-0.941	T	0.000	T	0.415	0.078	4.424	2.05	0.270	1.241	5.311	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	10724.01	323	chr6	32589684	.	A	G	10724.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.231e+00;DP=4752;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=49.04;MQRankSum=-7.090e-01;QD=4.29;ReadPosRankSum=0.302;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:267,67:334:99:.:.:1989,0,10989	12	0	9	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12898.36	213	chr6	32641444	.	G	C,*	12898.36	.	AC=10,14;AF=0.238,0.333;AN=42;BaseQRankSum=3.77;DP=4027;ExcessHet=1.2156;FS=8.630;InbreedingCoeff=0.0278;MLEAC=10,14;MLEAF=0.238,0.333;MQ=56.94;MQRankSum=-9.014e+00;QD=4.08;ReadPosRankSum=-2.282e+00;SOR=0.880	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,47,0:47:99:1|1:32641430_C_T:2115,141,0,2115,141,2115:32641430	4	2	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12919.36	215	chr6	32641445	.	A	*,T	12919.36	.	AC=14,10;AF=0.333,0.238;AN=42;BaseQRankSum=3.40;DP=4033;ExcessHet=1.2156;FS=8.537;InbreedingCoeff=0.0278;MLEAC=14,10;MLEAF=0.333,0.238;MQ=56.99;MQRankSum=-8.973e+00;QD=4.08;ReadPosRankSum=-2.307e+00;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,46:46:99:1|1:32641430_C_T:2070,2070,2070,138,138,0:32641430	4	2	7	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10387.93	236	chr6	32641462	.	G	A,*	10387.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=5.43;DP=4198;ExcessHet=1.2156;FS=3.431;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.72;MQRankSum=-9.839e+00;QD=3.14;ReadPosRankSum=-1.129e+00;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,52,0:52:99:1|1:32641430_C_T:2335,157,0,2335,157,2335:32641430	4	1	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10409.93	237	chr6	32641464	.	T	A,*	10409.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=3.55;DP=4202;ExcessHet=1.2156;FS=3.398;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.80;MQRankSum=-9.745e+00;QD=3.15;ReadPosRankSum=-9.480e-01;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,52,0:52:99:1|1:32641430_C_T:2335,157,0,2335,157,2335:32641430	4	1	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25415.33	297	chr6	32641501	.	G	C,*,A	25415.33	.	AC=10,13,1;AF=0.238,0.310,0.024;AN=42;BaseQRankSum=2.16;DP=4612;ExcessHet=1.2156;FS=0.551;InbreedingCoeff=0.0278;MLEAC=10,13,1;MLEAF=0.238,0.310,0.024;MQ=58.81;MQRankSum=-6.452e+00;QD=6.79;ReadPosRankSum=1.25;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,108,0,0:108:99:1|1:32641476_G_A:4829,325,0,4829,325,4829,4829,325,4829,4829:32641476	4	2	3	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V,	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.002	B	0.417	U	1.000	N	0.695	N	5.87	T	-0.920	T	0.000	T	0.292	-0.760	0.789	-7.95	-6.444	-13.284	0.888	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,137,0:137:99:.:.:4080,4080,4080,411,411,0,4080,4080,411,4080	4	0	1	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,137,0:137:99:.:.:4080,4080,4080,411,411,0,4080,4080,411,4080	4	0	1	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L	.	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.022	B	0.025	B	0.941	U	0.979	N	-0.55	N	7.87	T	-1.065	T	0.000	T	0.194	0.074	4.399	0.193	-0.489	0.016	5.435	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	85390.2	233	chr6	32664917	.	C	G,A	85390.2	.	AC=14,9;AF=0.333,0.214;AN=42;BaseQRankSum=0.684;DP=5279;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=14,9;MLEAF=0.333,0.214;MQ=59.41;MQRankSum=-1.614e+00;QD=23.27;ReadPosRankSum=-2.039e+00;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,274,0:274:99:1|1:32664910_A_G:12330,825,0,12330,825,12330:32664910	5	3	5	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	55654.92	97	chr6	32666525	.	A	*,G	55654.92	.	AC=9,30;AF=0.214,0.714;AN=42;BaseQRankSum=-1.394e+00;DP=1812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=9,30;MLEAF=0.214,0.714;MQ=60.00;MQRankSum=0.00;QD=31.69;ReadPosRankSum=-4.920e-01;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,90,0:90:99:1|1:32666522_A_ACC:4002,271,0,4002,271,4002:32666522	1	1	0	0
chr6	36225308	36225308	G	A	exonic	BRPF3	.	nonsynonymous SNV	BRPF3:NM_015695:exon11:c.G3223A:p.E1075K,	.	.	420	1075	26	1	0	28	0.0128558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.953	D	0.000	D	1.000	N	2.17	M	-0.52	T	-0.445	T	0.413	T	0.81	7.645	39	6.04	2.873	6.608	15.993	0.442	.	0.0083	0.00559105	0.0083	0.0012	0.0049	0	0.0091	0.0105	0.0112	0.0103	0.0082987	1283	154602	rs142171063	0.0094	0.0094	0.0091	0.0097	0.0135	0.0092	0.0092	0.0111	0.0102	0.0020	0.0055	0.0052	0.0002	0.0081	0.0135	0.0102	0.0091	0.0093	0.0075	0.0075	0.0074	0.0076	0.0120	0.0071	0.0070	0.0113	0.0110	0.0014	0.0022	0.0078	0.0052	0.0002	0.0064	0.0170	0.0120	0.0081	0.0074	0.005	0.63226	D	0.086	0.43721	T	0.912	0.50421	P	0.498	0.47596	P	0.000089	0.51296	D	0.129355	0.99986	0.81001	D	1.765	0.45800	L	-0.52	0.70717	T	-2.66	0.58248	D	0.903	0.90363	-0.4452	0.70559	T	0.413	0.76048	T	10	0.013104111	0.00279	T	.	.	.	0.442	0.74518	.	.	0.774720261517	0.77264	0.8641290524401819	0.86376	0.567022438611	0.52971	0.75238609314	0.74798	T	0.162972	0.50785	T	-0.129283	0.31612	T	0.0519048	0.73710	D	0.0249159672370973	0.01261	T	0.935306	0.81731	D	0.64164495	0.74919	0.53257245	0.72991	0.64164495	0.74920	0.53257245	0.72991	-8.051	0.61417	D	.	.	0.266	0.50054	B	.;.;.	.;.;.	5.149429	0.86240	28.8	0.99543335025107649	0.70648	0.86249	0.45493	D	AEFDGBHCI	0.883812	0.81302	D	0.734200740686734	0.81876	7.625519	0.765997048586827	0.87348	9.190829	1.0	0.98316	0.722319	0.85440	0	0.653731	0.59785	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.04	6.04	0.98025	5.697000	0.67954	11.918000	0.99752	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1337:0.8663:0.0	15.993	0.80014	567	0.70732	PWWP domain|PWWP domain|BR140-related, PWWD 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	3147.68	34	chr6	36225308	.	G	A	3147.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.718;DP=967;ExcessHet=0.3300;FS=6.133;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-3.360e-01;SOR=1.018	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1374,0,1398	18	0	3	0
chr6	41034129	41034129	G	T	exonic	UNC5CL	.	nonsynonymous SNV	UNC5CL:NM_173561:exon3:c.C438A:p.D146E,	.	.	408	1089	23	2	0	27	0.0122449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.756	P	0.678	P	0.000	D	1.000	D	1.14	L	1.05	T	-1.092	T	0.065	T	0.494	2.493	14.30	3.91	1.231	1.711	9.162	0.105	.	0.0065	0.00499201	0.0086	0.0022	0.0040	0.0018	0.0055	0.0109	0.0104	0.0114	0.0081629	1262	154602	rs147669667	0.0096	0.0096	0.0094	0.0098	0.0120	0.0095	0.0094	0.0112	0.0110	0.0011	0.0054	0.0030	0.0020	0.0049	0.0120	0.0105	0.0090	0.0118	0.0067	0.0067	0.0067	0.0067	0.0112	0.0063	0.0062	0.0094	0.0091	0.0015	0.0219	0.0064	0.0043	0.0019	0.0048	0.0068	0.0100	0.0128	0.0112	0.28	0.15509	T	0.165	0.30926	T	0.756	0.43409	P	0.678	0.53406	P	0.000043	0.53742	D	0.000000	0.80733	0.29043	N	1.32	0.33002	L	1.05	0.39990	T	-0.68	0.19509	N	0.624	0.63883	-1.0917	0.05254	T	0.065	0.26702	T	10	0.010130048	0.00227	T	.	.	.	0.105	0.29889	0.448	0.50793	0.444505407614	0.44072	0.32841712452372535	0.32754	0.55956992757	0.52493	0.606204330921	0.53781	T	0.009612	0.08738	T	-0.43467	0.01390	T	-0.386762	0.34931	T	0.049045115221159	0.05331	T	0.69513	0.30474	T	0.14271234	0.32830	0.1266743	0.30504	0.14271234	0.32830	0.1266743	0.30503	-6.381	0.49361	T	.	.	0.646	0.74223	P	.;.	.;.	2.804785	0.36903	20.4	0.99652718392113959	0.77380	0.75210	0.36814	D	AEFDBI	0.343576	0.43934	N	0.117645046854027	0.47287	2.956471	0.146321850026763	0.46946	2.932529	0.999932144858726	0.46732	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.78	3.91	0.44383	1.751000	0.37967	2.856000	0.35172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0996:0.0:0.9004:0.0	9.162	0.36191	454	0.79125	ZU5 domain|ZU5 domain|ZU5 domain;ZU5 domain|ZU5 domain|ZU5 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	3281.11	37	chr6	41034129	.	G	T	3281.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.85;DP=952;ExcessHet=0.1072;FS=1.490;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.231;SOR=0.803	GT:AD:DP:GQ:PL	0/1:51,70:121:99:1721,0,1257	19	0	2	0
chr6	42745487	42745487	T	C	exonic	TBCC	.	nonsynonymous SNV	TBCC:NM_003192:exon1:c.A587G:p.K196R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.012	B	0.062	B	0.001	N	0.940	D	1.645	L	-1.0	T	-0.969	T	0.135	T	0.052	0.896	8.640	2.45	0.836	1.809	9.665	0.142	0.0230696324998	.	.	9.312e-06	0	0.0001	0	0	0	0	0	6.5e-06	1	154602	rs747041669	1.37e-06	1.368e-06	1.362e-06	1.377e-06	2.989e-05	2.3e-07	9e-08	.	.	2.989e-05	2.258e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.707	0.04081	T	0.287	0.21210	T	0.012	0.16265	B	0.062	0.26930	B	0.001123	0.40136	N	0.268180	0.939648	0.37268	D	2.47	0.71715	M	-1.0	0.76037	T	-0.78	0.21644	N	0.168	0.17828	-0.9692	0.37366	T	0.135	0.44875	T	10	0.07663259	0.11996	T	0.02307	0.46009	T	0.142	0.37995	0.372	0.38340	0.537262924806	0.53376	0.6791546308973043	0.67854	.	.	0.402836292982	0.25464	T	0.017635	0.14352	T	-0.276615	0.11030	T	-0.452347	0.27436	T	0.0817720362510145	0.10213	T	0.70163	0.31127	T	0.11132611	0.26309	0.12608822	0.30372	0.11132611	0.26309	0.12608822	0.30371	-3.337	0.14219	T	.	.	0.118	0.24054	B	.	.	2.582406	0.33487	19.35	0.91494635040747962	0.20768	0.78062	0.38459	D	ALL	0.376261	0.46047	N	-0.38408761096165	0.26036	1.417872	-0.245952724110293	0.29911	1.679674	0.999999998875378	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.1	2.45	0.28953	1.776000	0.38223	2.729000	0.34373	0.609000	0.47794	0.997000	0.40164	0.999000	0.35428	0.970000	0.54328	0.454:0.0:0.0:0.546	9.665	0.39143	575	0.70088	Tubulin binding cofactor C-like domain|C-CAP/cofactor C-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	1025.98	34	chr6	42745487	.	T	C	1025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.950e-01;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=1.23;SOR=0.739	GT:AD:DP:GQ:PL	0/1:35,36:71:99:1040,0,992	20	0	1	0
chr6	43553416	43553416	A	G	exonic	XPO5	.	nonsynonymous SNV	XPO5:NM_020750:exon14:c.T1529C:p.L510S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.0	B	0.001	B	0.015	N	0.620	N	0.725	N	-0.59	T	-1.051	T	0.086	T	0.418	2.407	14.01	4.44	2.116	2.696	4.108	0.246	0.00614673704469	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs918045040	4.817e-06	5.473e-06	5.47e-06	4.156e-06	5.416e-06	2e-06	1.29e-06	1.95e-06	1.28e-06	0	0	0	0	0	0	5.416e-06	1.663e-05	0	2.629e-05	2.627e-05	3.855e-05	1.345e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0.0005	0	0.049	0.39820	D	0.205	0.27145	T	0.0	0.02946	B	0.001	0.04355	B	0.014884	0.28400	N	0.374411	0.620042	0.30788	N	0.695	0.17993	N	-0.59	0.71543	T	-3.76	0.71276	D	0.357	0.39861	-1.0509	0.14147	T	0.086	0.33578	T	10	0.24167225	0.41349	T	0.006147	0.16111	T	0.246	0.55340	0.551	0.66716	0.318725805183	0.31479	0.5481017413941294	0.54736	0.527734072401	0.50377	0.400847673416	0.25187	T	0.365502	0.73091	T	-0.0343083	0.46788	T	-0.287058	0.46078	T	0.40423721075058	0.29101	T	0.638236	0.25169	T	0.35169512	0.57198	0.24354513	0.49800	0.35169512	0.57198	0.24354513	0.49799	-10.685	0.77902	D	.	.	0.162	0.35767	B	.	.	3.207423	0.43650	21.8	0.9933972776342973	0.60131	0.88373	0.48271	D	AEFBI	0.176315	0.30352	N	-0.140480786579472	0.35641	2.049767	0.057691036119573	0.42444	2.567377	0.552085577578993	0.21342	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	4.44	0.53164	2.729000	0.46998	9.237000	0.79396	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.6405:0.2149:0.1446:0.0	4.108	0.09518	219	0.91485	.	.	.	.	.	.	Uncertain significance	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	1061.98	35	chr6	43553416	.	A	G	1061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.914e+00;DP=822;ExcessHet=0.0000;FS=2.247;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=-1.247e+00;SOR=0.578	GT:AD:DP:GQ:PL	0/1:79,53:132:99:1076,0,1999	20	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.956	P	0.785	P	0.000	D	0.992	D	0.93	L	-0.64	T	-0.812	T	0.190	T	0.424	2.585	14.60	4.45	1.216	0.876	8.891	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3889	1304.96	82	chr6	44229406	.	C	T	1304.96	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.959e+00;DP=2294;ExcessHet=14.4320;FS=177.510;InbreedingCoeff=-0.6006;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=1.16;SOR=12.393	GT:AD:DP:GQ:PL	0/1:91,48:139:99:159,0,1499	4	0	14	3
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	B	0.041	B	0.000	D	1.000	D	0.24	N	1.69	T	-1.025	T	0.018	T	0.207	-0.511	1.662	5.64	2.147	2.830	15.038	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1923	851.03	179	chr6	52403967	.	A	G	851.03	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.856e+00;DP=2907;ExcessHet=1.1607;FS=121.785;InbreedingCoeff=-0.2622;MLEAC=6;MLEAF=0.231;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=1.19;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:205,31:236:49:.:.:49,0,5075	8	0	5	8
chr6	56640283	56640283	G	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon4:c.C739G:p.P247A	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	2	1475	43	2	0	47	0.0156823	.	.	308408	Inborn_genetic_diseases|Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided|DST-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.79	T	0.172	B	0.075	B	0.074	N	0.957	N	0.69	N	1.06	T	-1.056	T	0.133	T	0.136	0.616	7.316	1.56	0.046	0.428	7.512	0.033	.	0.0018	0.00299521	0.0033	0.0004	0.0012	0	0.0002	0.0030	0.0022	0.0107	0.0031177	482	154602	rs151271595	0.0028	0.0028	0.0025	0.0030	0.0102	0.0027	0.0027	0.0096	0.0094	0.0006	0.0014	0.0029	2.519e-05	0.0004	0.0095	0.0024	0.0033	0.0102	0.0018	0.0018	0.0017	0.0019	0.0097	0.0016	0.0016	0.0075	0.0067	0.0006	0	0.0023	0.0037	0.0002	0	0.0034	0.0022	0.0038	0.0097	0.052	0.52492	T	0.429	0.17217	T	0.023	0.25584	B	0.029	0.28327	B	0.073886	0.21317	N	0.395716	.	.	.	1.24	0.30952	L	1.06	0.82715	T	-1.84	0.59545	N	0.124	0.18512	-1.0564	0.12672	T	0.133	0.44661	T	9	0.0032327473	0.00055	T	.	.	.	0.033	0.08068	.	.	0.366092821824	0.36220	0.3893332817011348	0.38848	0.139746512027	0.15750	0.298681229353	0.10204	T	0.010347	0.16227	T	-0.41251	0.01913	T	-0.357357	0.38358	T	0.00171214513294426	0.00017	T	0.842416	0.51891	T	.	.	.	.	.	.	.	.	-4.492	0.30784	T	.	.	0.061	0.01143	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.025952	0.14055	10.63	0.74773530716296321	0.10821	0.50708	0.28725	D	AEFDGBHCI	0.156510	0.28188	N	-0.715540201429122	0.15585	0.7867031	-0.601513759295084	0.19453	1.043817	0.999999734906887	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.95	1.56	0.22423	0.441000	0.21325	1.420000	0.26356	0.676000	0.76740	0.773000	0.29391	0.931000	0.28545	0.995000	0.73285	0.0:0.3053:0.1732:0.5215	7.512	0.26746	314	0.87270	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.07143	6500.68	36	chr6	56640283	.	G	C	6500.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.020e+00;DP=1137;ExcessHet=0.3300;FS=3.219;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.525;SOR=0.914	GT:AD:DP:GQ:PL	0/1:63,65:128:99:1721,0,1745	18	0	3	0
chr6	57054057	57054057	A	G	exonic	KIAA1586	.	nonsynonymous SNV	KIAA1586:NM_001286274:exon3:c.A1477G:p.I493V	.	.	434	1086	2	0	0	2	0.000919963	.	.	2359511	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.001	B	.	.	1.000	N	0	N	2.02	T	-0.908	T	0.007	T	0.086	0.301	5.628	1.41	0.176	2.644	5.627	0.019	0.00167628844764	0.0002	.	0.0001	0.0001	0	0	0	0.0002	0	0.0001	0.0001294	20	154602	rs147271286	6.925e-05	6.978e-05	6.959e-05	6.891e-05	0.0043	5.793e-05	5.404e-05	0.0030	0.0026	0.0005	4.511e-05	0	0	0	0.0043	3.604e-05	0.0002	6.992e-05	3.287e-05	3.283e-05	5.14e-05	1.346e-05	5.885e-05	1.261e-05	7.98e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.885e-05	0.0005	0	0.205	0.20230	T	0.35	0.23638	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999988	0.18198	N	0.695	0.17993	N	2.02	0.21119	T	-0.28	0.11547	N	0.227	0.25499	-0.9079	0.47109	T	0.007	0.02598	T	9	0.054757535	0.05881	T	0.001676	0.02753	T	0.019	0.03383	.	.	0.0551355673512	0.04727	0.02415413279898782	0.02366	0.030042904158	0.03099	0.56442296505	0.47891	T	0.012204	0.10769	T	-0.447951	0.01161	T	-0.689544	0.06415	T	0.0354195467243455	0.02880	T	0.555444	0.19245	T	0.050615285	0.09171	0.0693522	0.14601	0.050615285	0.09171	0.0693522	0.14601	-4.039	0.24385	T	.	.	0.069	0.03811	B	.;.	.;.	1.368456	0.17782	13.37	0.79567598744896406	0.12800	0.73597	0.35999	D	AEFBCI	0.070436	0.13982	N	-0.760185516113316	0.14358	0.7145654	-0.60024960902381	0.19486	1.045725	0.101579239144028	0.16383	0.562547	0.31514	0	0.546412	0.12157	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	3.85	1.41	0.21461	2.957000	0.48830	0.761000	0.21315	0.665000	0.62972	0.766000	0.29311	0.000000	0.08366	0.998000	0.85391	0.7673:0.0:0.2327:0.0	5.627	0.16769	282	0.88846	.;.	.	.	.	.	.	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	623.98	33	chr6	57054057	.	A	G	623.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=802;ExcessHet=0.0000;FS=0.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.06;ReadPosRankSum=1.78;SOR=0.794	GT:AD:DP:GQ:PL	0/1:71,32:103:99:638,0,1715	20	0	1	0
chr6	65495077	65495077	C	T	exonic	EYS	.	nonsynonymous SNV	EYS:NM_198283:exon3:c.G334A:p.V112I	Retinitis pigmentosa 25	.	0	1422	93	7	0	107	0.0362589	.	.	140963	not_specified|not_provided|Retinitis_pigmentosa|Retinitis_pigmentosa_25	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.0	B	.	.	1.000	N	-0.205	N	-1.53	D	-0.926	T	0.165	T	0.028	-0.528	1.597	0.626	-0.077	1.446	2.280	0.191	.	0.0041	0.00858626	0.0086	0.0012	0.0048	0.0005	0.0002	0.0065	0.0110	0.0323	0.0077425	1197	154602	rs112609906	0.0053	0.0053	0.0043	0.0063	0.0337	0.0052	0.0052	0.0327	0.0323	0.0009	0.0055	0.0626	0.0002	5.617e-05	0.0284	0.0020	0.0098	0.0337	0.0058	0.0058	0.0048	0.0068	0.0385	0.0055	0.0053	0.0340	0.0322	0.0007	0	0.0153	0.0637	0.0006	9.427e-05	0.0102	0.0027	0.0095	0.0385	1.0	0.00964	T	0.537	0.09863	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999995	0.08975	N	-0.975	0.01213	N	-1.54	0.89496	D	-0.16	0.09460	N	0.055	0.02658	-0.9262	0.44688	T	0.165	0.50258	T	9	0.0017894804	0.00023	T	.	.	.	0.191	0.46948	.	.	0.235664433957	0.23186	0.0246454282245008	0.02415	0.00995304507162	0.00909	0.290867894888	0.09049	T	0.037376	0.24453	T	-0.524892	0.00412	T	-0.503062	0.22032	T	0.00452867321037456	0.00048	T	0.430857	0.11714	T	0.019045109	0.00429	0.029319579	0.01257	0.018142622	0.00335	0.022801036	0.00298	-2.302	0.04835	T	0.02652903951531157	0.00038	0.055	0.00681	B	.;.;.;.	.;.;.;.	0.719570	0.10887	7.559	0.48228472243111892	0.04007	0.18982	0.20480	N	AEFCI	0.057285	0.10659	N	-0.778460120555386	0.13872	0.6866326	-0.610487569943459	0.19223	1.030442	1.30256985872255E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.7	0.626	0.16843	1.444000	0.34679	1.206000	0.24872	-0.172000	0.11096	1.000000	0.71638	0.929000	0.28499	0.587000	0.31065	0.1537:0.0872:0.16:0.5991	2.280	0.03859	916	0.20744	.;.;.;.	.	.	.	.	.	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	2400.98	34	chr6	65495077	.	C	T	2400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=888;ExcessHet=0.0000;FS=0.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.59;ReadPosRankSum=-7.580e-01;SOR=0.636	GT:AD:DP:GQ:PL	0/1:66,88:154:99:2415,0,1546	20	0	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGG:p.G45_G46insDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/1:0,29,0,0:29:82:1286,82,0,1292,87,1298,1292,87,1298,1298	3	8	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGGCGGCGACTTCGGCGG:p.G45_G46insDFGGGDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/1:0,29,0,0:29:82:1286,82,0,1292,87,1298,1292,87,1298,1298	3	8	1	0
chr6	87341239	87341239	C	T	exonic	SMIM8	.	nonsynonymous SNV	SMIM8:NM_001287445:exon3:c.C149T:p.S50F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000480547746474	.	.	.	.	.	.	.	.	.	.	.	.	.	rs371533520	2.031e-05	7.952e-06	8.234e-06	3.206e-05	1.899e-05	7.94e-06	4.32e-06	5.05e-06	2.4e-06	0	0	0.0002	0	0	0	1.899e-05	0	0	3.956e-05	3.946e-05	3.864e-05	4.053e-05	5.888e-05	1.72e-05	1.133e-05	1.974e-05	1.126e-05	0	0	0	0.0006	0	0	0	5.888e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.174	0.18649	.	.	.	.	.	.	.	0.062897205	0.08113	T	4.81E-4	0.00133	T	.	.	.	.	0.0401082797425	0.02173	.	.	.	.	.	.	.	0.015622	0.13069	T	-0.466168	0.00899	T	-0.907394	0.00452	T	.	.	.	0.348865	0.07732	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.45762	B	.	.	0.407018	0.07781	4.468	0.60750775516981637	0.06539	0.00435	0.02127	N	AEFDBHCI	0.023184	0.01257	N	.	.	.	.	.	.	0.00717249068661772	0.11402	0.106106	0.02776	0	0.067934	0.01796	0	0.125526	0.03468	0	0.041654	0.00081	2	.	.	0.69	-1.38	0.08554	-1.401000	0.02608	.	.	-0.365000	0.05478	0.000000	0.06391	.	.	0.318000	0.24924	.	.	.	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	0	0	0	0	0.02381	651.98	35	chr6	87341239	.	C	T	651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=792;ExcessHet=0.0000;FS=2.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=-3.060e-01;SOR=1.101	GT:AD:DP:GQ:PL	0/1:36,27:63:99:666,0,784	20	0	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.097	B	0.11	B	0.099	N	1.000	N	1.04	L	1.55	T	-0.985	T	0.016	T	0.051	1.919	12.37	-6.98	-1.253	0.061	8.727	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3421	1158.48	77	chr6	87418396	.	G	C	1158.48	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.018e+00;DP=1449;ExcessHet=12.7758;FS=261.195;InbreedingCoeff=-0.5695;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.16;SOR=11.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,24:69:47:.:.:47,0,598	6	0	13	2
chr6	106519808	106519808	A	G	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.A1376G:p.E459G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.058	B	0.028	B	0.107	N	1.000	D	1.905	M	-0.78	T	-0.814	T	0.187	T	0.169	2.694	14.97	3.8	0.567	1.196	8.032	0.144	0.0212202703183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	1.368e-06	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.041	0.41915	D	0.024	0.56640	D	0.058	0.22967	B	0.028	0.21332	B	0.107070	0.19586	N	0.380172	0.557233	0.32183	D	.	.	.	-0.78	0.73631	T	-2.54	0.55025	D	0.097	0.10911	-0.8137	0.54325	T	0.187	0.53661	T	10	0.1305852	0.24851	T	0.02122	0.43954	T	0.144	0.38394	0.179	0.08626	0.592657251108	0.58943	0.20336707025620981	0.20253	0.104194873104	0.11789	0.325799465179	0.14299	T	0.081868	0.36696	T	-0.118302	0.33402	T	-0.407709	0.32489	T	0.300546569306755	0.25027	T	0.618838	0.23746	T	0.092914574	0.21811	0.09735285	0.23168	0.092914574	0.21811	0.09735285	0.23168	-3.752	0.20089	T	.	.	0.097	0.15966	B	.;.	.;.	2.477978	0.31950	18.90	0.99576274927560871	0.72742	0.38129	0.25918	N	ALL	0.125869	0.24257	N	-0.484201288877734	0.22598	1.207777	-0.403719046959895	0.24887	1.365423	1.0	0.98316	0.562547	0.31514	0	0.093493	0.02558	3	0.608524	0.38960	0	0.635551	0.53088	0	.	.	6.17	3.8	0.42887	1.200000	0.31854	5.432000	0.48595	-0.050000	0.17177	0.822000	0.30018	1.000000	0.68203	0.001000	0.02609	0.8418:0.0:0.1582:0.0	8.032	0.29632	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	236.14	145	chr6	106519808	.	A	G	236.14	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.710e+00;DP=1384;ExcessHet=0.1072;FS=130.644;InbreedingCoeff=-0.0513;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.74;ReadPosRankSum=0.890;SOR=9.308	GT:AD:DP:GQ:PL	0/1:105,46:151:99:217,0,2439	19	0	2	0
chr6	106521329	106521329	A	G	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.A2897G:p.E966G	.	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.878	P	0.502	N	1.000	D	2.24	M	-0.8	T	-0.435	T	0.494	T	0.668	3.833	19.46	5.9	2.250	1.687	12.707	0.323	.	7.7e-05	0.00479233	0.0036	0.0003	0.0003	0	0	4.501e-05	0.0022	0.0255	0.0030207	467	154602	rs201797268	0.0014	0.0014	0.0008	0.0021	0.0229	0.0014	0.0014	0.0220	0.0217	0.0002	6.711e-05	0	5.038e-05	0	0.0017	2.608e-05	0.0015	0.0229	0.0008	0.0008	0.0004	0.0012	0.0232	0.0007	0.0006	0.0197	0.0184	0.0002	0	0	0	0	0	0	4.411e-05	0	0.0232	0.034	0.44029	D	0.045	0.49390	D	0.998	0.73220	D	0.878	0.62312	P	0.501860	0.05096	N	1.239110	0.659091	0.30465	N	.	.	.	-0.8	0.73845	T	-1.62	0.38924	N	0.225	0.25253	-0.4352	0.70890	T	0.494	0.80830	T	10	0.0041195154	0.00081	T	.	.	.	0.323	0.64522	.	.	0.876007074002	0.87480	0.38657576976020197	0.38572	0.101216265927	0.11446	0.394491821527	0.24300	T	0.017161	0.14051	T	-0.253455	0.13678	T	-0.118593	0.61918	T	0.020368446620459	0.00737	T	0.570043	0.20293	T	0.07832549	0.17829	0.07597949	0.16782	0.07832549	0.17828	0.07597949	0.16782	-3.917	0.22557	T	.	.	0.097	0.15609	B	.;.	.;.	2.192876	0.27962	17.64	0.99762023113990628	0.85172	0.44345	0.27298	N	ALL	0.103433	0.20723	N	0.317689826139538	0.57057	3.871678	0.205870227503103	0.50173	3.212148	0.999999999999261	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.9	5.9	0.94952	1.726000	0.37706	4.663000	0.44246	-0.041000	0.17446	0.772000	0.29380	0.999000	0.35428	0.187000	0.21511	1.0:0.0:0.0:0.0	12.707	0.56435	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1737.98	37	chr6	106521329	.	A	G	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.050e-01;DP=931;ExcessHet=0.0000;FS=2.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=-1.550e+00;SOR=0.827	GT:AD:DP:GQ:PL	0/1:88,74:162:99:1752,0,2169	20	0	1	0
chr6	118816260	118816260	G	A	exonic	MCM9	.	nonsynonymous SNV	MCM9:NM_001378366:exon11:c.C1724T:p.T575M	Ovarian dysgenesis 4, Autosomal recessive	.	430	1082	10	0	0	10	0.00459982	.	.	3398002	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.0	B	0.666	N	1.000	N	0	N	1.4	T	-0.958	T	0.013	T	0.241	2.118	13.04	-0.273	-0.066	0.041	3.743	0.089	.	.	0.00339457	0.0049	0.0034	0.0077	0.0021	0.0062	0.0063	0.0109	0.0035	0.0015977	247	154602	rs75607191	0.0080	0.0077	0.0082	0.0079	0.0093	0.0079	0.0079	0.0091	0.0091	0.0026	0.0029	0.0022	0.0017	0.0049	0.0016	0.0093	0.0074	0.0031	0.0057	0.0057	0.0059	0.0054	0.0086	0.0054	0.0052	0.0080	0.0078	0.0027	0	0.0035	0.0037	0.0039	0.0055	0	0.0086	0.0052	0.0033	0.035	0.43708	D	0.023	0.57104	D	0.001	0.07471	B	0.0	0.01387	B	0.666421	0.10381	N	0.853391	1	0.08975	N	.	.	.	1.4	0.33630	T	-0.84	0.22944	N	0.053	0.02462	-0.9581	0.39534	T	0.013	0.04843	T	10	0.004149258	0.00082	T	.	.	.	0.099	0.28413	.	.	0.320256813643	0.31633	0.30725911437981607	0.30638	0.123927475785	0.13947	0.179488107562	0.00089	T	0.077157	0.35589	T	-0.539637	0.00336	T	-0.538533	0.18440	T	0.0126444460694241	0.00212	T	0.581942	0.21082	T	0.040088743	0.05657	0.03386222	0.02353	0.04614843	0.07674	0.03386222	0.02353	-6.545	0.50633	T	.	.	0.079	0.10304	B	.;.	.;.	1.392080	0.18050	13.52	0.81215365544448126	0.13576	0.07522	0.13536	N	AEFBI	0.105012	0.20994	N	-0.728929134106233	0.15211	0.7646582	-0.808616265274746	0.14286	0.7457212	0.0705744822745053	0.15533	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.17	-0.273	0.12276	0.074000	0.14525	0.082000	0.14403	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0738:0.3051:0.2439:0.3773	3.743	0.08063	457	0.78953	.;.	.	.	.	.	rs75607191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1009.98	33	chr6	118816260	.	G	A	1009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=3.05;SOR=0.607	GT:AD:DP:GQ:PL	0/1:34,38:72:99:1024,0,824	20	0	1	0
chr6	129315940	129315940	A	C	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon26:c.A3914C:p.E1305A	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	.	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.992	D	0.911	D	0.000	D	1.000	D	1.355	L	1.28	T	-1.073	T	0.091	T	0.559	2.274	13.56	5.4	2.169	8.905	15.718	0.250	0.0203989777683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.07619	T	.	.	.	0.991	0.64070	D	0.903	0.64103	P	0.000000	0.84330	D	0.052414	0.999987	0.54805	D	1.975	0.53506	M	1.28	0.35960	T	-1.7	0.40468	N	0.522	0.61511	-1.0727	0.08830	T	0.091	0.34765	T	10	0.4822521	0.60501	T	0.020399	0.42987	T	0.250	0.55888	0.624	0.75916	0.591496729656	0.58826	0.5642072691617266	0.56347	0.408498947633	0.41690	0.572437286377	0.49023	T	0.027508	0.34472	T	-0.0411517	0.45778	T	-0.296888	0.45053	T	0.958801805973053	0.65367	D	0.931007	0.74365	D	0.77534455	0.82369	0.6995639	0.82301	0.77534455	0.82371	0.6995639	0.82302	-5.356	0.40494	T	0.4703109063851091	0.55089	0.136	0.29615	B	.;.;.	.;.;.	4.668467	0.74591	26.2	0.97670078092111579	0.35247	0.99040	0.90348	D	AEFBI	0.863447	0.78199	D	0.579507800537866	0.71896	5.721228	0.61645052462553	0.76134	6.435381	0.999918774594531	0.45857	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.4	5.4	0.77957	8.863000	0.91893	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.718	0.77447	836	0.38045	Laminin IV|Laminin IV|Laminin IV;Laminin IV|Laminin IV|Laminin IV;Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	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	2104.98	33	chr6	129315940	.	A	C	2104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.713;DP=837;ExcessHet=0.0000;FS=3.082;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.48;ReadPosRankSum=-9.800e-02;SOR=0.969	GT:AD:DP:GQ:PL	0/1:61,75:136:99:2119,0,1581	20	0	1	0
chr6	139242800	139242800	G	A	exonic	TXLNB	.	nonsynonymous SNV	TXLNB:NM_153235:exon10:c.C1781T:p.P594L,	.	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	B	0.003	B	0.112	N	1.000	N	0.345	N	2.36	T	-0.977	T	0.007	T	0.044	1.141	9.649	0.988	0.289	-0.296	1.732	0.009	.	0.0082	0.00519169	0.0085	0.0014	0.0041	0	0.0094	0.0104	0.0044	0.0130	0.0085057	1315	154602	rs142843391	0.0097	0.0097	0.0094	0.0100	0.0198	0.0095	0.0095	0.0168	0.0157	0.0014	0.0041	0.0161	2.519e-05	0.0087	0.0198	0.0100	0.0097	0.0138	0.0070	0.0071	0.0075	0.0066	0.0137	0.0067	0.0066	0.0110	0.0101	0.0017	0	0.0035	0.0158	0	0.0088	0.0204	0.0105	0.0066	0.0137	0.121	0.27783	T	0.15	0.32461	T	0.003	0.11197	B	0.003	0.08700	B	0.112033	0.02648	N	1.828980	1	0.08975	N	1.61	0.41143	L	2.36	0.16089	T	-2.6	0.55983	D	0.061	0.03283	-0.9766	0.35772	T	0.007	0.02598	T	9	0.00434196	0.00088	T	.	.	.	0.009	0.00846	.	.	0.117506650769	0.11410	0.10405901791647389	0.10335	0.0776381010885	0.08735	0.28201675415	0.07775	T	0.006405	0.05833	T	-0.726782	0.00025	T	-0.805072	0.01779	T	0.00267633473456065	0.00028	T	0.344066	0.07525	T	0.032116443	0.03176	0.04711767	0.06716	0.032116443	0.03175	0.04711767	0.06715	-5.056	0.37442	T	.	.	0.067	0.02488	B	.	.	0.186468	0.05734	2.177	0.46548963698285656	0.03737	0.10788	0.16193	N	AEFBI	0.181520	0.30884	N	-1.26363731614048	0.04122	0.1854551	-1.25041412218816	0.05125	0.2434541	0.00302891155545131	0.09875	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.586402	0.36253	0	.	.	5.04	0.988	0.18914	-0.342000	0.07848	-0.521000	0.08690	-0.670000	0.04303	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1898:0.159:0.4872:0.1639	1.732	0.02757	532	0.73501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2111.11	36	chr6	139242800	.	G	A	2111.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.58;DP=904;ExcessHet=0.1072;FS=0.564;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.399;SOR=0.769	GT:AD:DP:GQ:PL	0/1:59,35:94:99:895,0,1567	19	0	2	0
chr6	142075893	142075893	G	A	exonic	NMBR	.	nonsynonymous SNV	NMBR:NM_001324308:exon3:c.C484T:p.R162W	.	.	433	1065	24	0	0	24	0.0111421	.	.	699344	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.993	D	0.000	D	1.000	D	2.505	M	1.18	T	-0.755	T	0.156	T	0.929	3.638	18.50	0.912	-0.087	1.892	15.314	0.392	0.0443608226075	0.0048	0.00319489	0.0046	0.0016	0.0042	0.0001	0.0023	0.0066	0.0044	0.0024	0.0046118	713	154602	rs142626832	0.0057	0.0057	0.0057	0.0056	0.0083	0.0056	0.0055	0.0064	0.0063	0.0010	0.0048	0.0046	0	0.0029	0.0083	0.0064	0.0060	0.0023	0.0044	0.0044	0.0047	0.0042	0.0079	0.0042	0.0040	0.0068	0.0063	0.0010	0	0.0079	0.0032	0.0004	0.0009	0.0068	0.0068	0.0057	0.0023	0.001	0.78490	D	0.029	0.54541	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.295	0.90403	M	1.18	0.37746	T	-2.34	0.51811	N	0.936	0.94196	-0.7555	0.57646	T	0.156	0.48824	T	10	0.03532988	0.01777	T	0.044361	0.61452	D	0.392	0.70764	.	.	0.804686868852	0.80285	0.8196599033719563	0.81922	0.306287977142	0.32927	0.715474963188	0.69387	T	0.35663	0.72345	T	-0.0837222	0.39107	T	0.110409	0.77600	D	0.0728350477732559	0.09043	T	0.918408	0.70674	D	0.5702802	0.71076	0.59424245	0.76447	0.5702802	0.71077	0.59424245	0.76448	-10.551	0.77139	D	.	.	0.720	0.73784	P	.	.	4.135081	0.61910	24.4	0.99905509036723072	0.97651	0.86661	0.45989	D	AEFDCI	0.803252	0.72845	D	0.380703883405565	0.60376	4.225956	0.270218235454805	0.53809	3.54804	0.0607733084802156	0.15208	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.31	0.912	0.18476	1.996000	0.40396	0.884000	0.22419	0.670000	0.69193	1.000000	0.71638	0.999000	0.35428	0.973000	0.55318	0.0:0.0:0.4259:0.5741	15.314	0.73770	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	1	0	0	0	0	0	0	1	0	0	0	0.02381	1511.98	37	chr6	142075893	.	G	A	1511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=887;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.575;SOR=0.589	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1526,0,1279	20	0	1	0
chr6	148543716	148543716	C	T	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_001346507:exon11:c.C1529T:p.S510L	.	.	417	1090	15	0	0	15	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.002	B	0.034	N	1.000	D	1.935	M	1.08	T	-1.039	T	0.062	T	0.116	1.809	12.01	4.83	2.241	3.374	10.732	0.057	0.00640577562844	0.0002	0.000998403	0.0007	0	0.0003	0	0	6.241e-05	0.0012	0.0067	0.0006468	100	154602	rs138913048	0.0003	0.0003	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0042	3.123e-05	2.541e-05	0	2.558e-05	0	0.0018	2.577e-05	0.0004	0.0048	0.0002	0.0002	0.0001	0.0003	0.0054	0.0002	0.0001	0.0038	0.0032	0	0	0	0	0	0	0.0102	4.41e-05	0	0.0054	0.071	0.35165	T	0.472	0.31527	T	0.001	0.07471	B	0.002	0.06944	B	0.033633	0.24874	N	0.439290	0.966398	0.38527	D	2.045	0.56016	M	1.08	0.39401	T	-2.36	0.52128	N	0.192	0.25253	-1.0389	0.17648	T	0.062	0.25923	T	10	0.004956901	0.00106	T	0.006406	0.16841	T	0.057	0.16321	.	.	0.619004339632	0.61592	0.3150039992461185	0.31413	0.131701140582	0.14851	0.410920679569	0.26585	T	0.025131	0.21720	T	-0.524104	0.00416	T	-0.524662	0.19824	T	0.047493846159901	0.05053	T	0.886911	0.61435	D	0.11728575	0.27653	0.08419998	0.19352	0.097044855	0.22867	0.08497029	0.19586	-5.259	0.39536	T	0.1646277008792782	0.20356	0.085	0.15832	B	.;.	.;.	2.750962	0.36054	20.1	0.99472638887301112	0.66419	0.96891	0.71503	D	AEFDBI	0.267913	0.38451	N	-0.15132286854229	0.35178	2.017341	-0.0761912689404787	0.36376	2.116221	0.999999931408953	0.74766	0.719381	0.83141	0	0.59043	0.45803	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	4.83	4.83	0.61880	4.221000	0.58371	3.308000	0.37439	0.599000	0.40250	0.997000	0.40164	0.998000	0.33993	0.268000	0.23719	0.0:0.9122:0.0:0.0878	10.732	0.45302	956	0.09877	.;.	.	.	.	.	.	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	1240.98	34	chr6	148543716	.	C	T	1240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.133;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-9.610e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1255,0,1309	20	0	1	0
chr6	149378547	149378547	A	G	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.A632G:p.N211S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.993	D	0.956	D	0.000	D	1.000	D	1.085	L	-0.73	T	-0.607	T	0.286	T	0.153	0.616	7.317	4.81	1.084	8.730	12.018	0.289	0.0174232180529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.308	0.19845	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.73	0.73100	T	-0.76	0.21215	N	0.832	0.82761	-0.6069	0.64532	T	0.286	0.65763	T	10	0.41120163	0.56237	T	0.017423	0.39111	T	0.289	0.60808	0.142	0.04556	0.838873866338	0.83733	0.5868442608649261	0.58614	0.921335754619	0.71472	0.701119542122	0.67305	T	0.222447	0.58630	T	-0.0361796	0.46514	T	-0.289746	0.45798	T	0.672599494457245	0.39454	D	0.943606	0.78679	D	0.07764685	0.17636	0.09442277	0.22350	0.07764685	0.17635	0.09442277	0.22350	-3.035	0.10563	T	0.6447677205311815	0.71602	0.165	0.36335	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.94975233418001004	0.25908	0.99224	0.93061	D	AEGBI	.	.	.	0.18399020640354	0.50429	3.23311	0.184305151337975	0.48988	3.107472	0.999995086728048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	4.81	0.61401	8.718000	0.91150	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9329:0.0:0.0671:0.0	12.018	0.52617	761	0.50382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	218.82	33	chr6	149378547	.	A	G	218.82	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-6.274e+00;DP=1804;ExcessHet=0.3300;FS=161.434;InbreedingCoeff=-0.0800;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=2.06;SOR=10.902	GT:AD:DP:GQ:PL	0/1:196,52:248:99:143,0,4492	18	0	3	0
chr6	159246969	159246969	G	C	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon15:c.G4690C:p.D1564H,	.	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.979	D	0.003	N	1.000	D	1.935	M	3.72	T	-0.653	T	0.275	T	0.54	3.265	16.95	5.54	2.588	5.711	17.237	0.103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0018	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0	0.0002	5.061e-05	1.875e-05	0	0.0003	0.0002	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.009	0.66756	D	0.999	0.77913	D	0.979	0.74454	D	0.002848	0.35836	N	0.234303	0.999957	0.54805	D	2.43	0.70455	M	2.92	0.09915	T	-3.39	0.66896	D	0.55	0.57604	-0.6531	0.62579	T	0.275	0.64629	T	9	0.5588635	0.64674	D	0.033427	0.54974	D	0.155	0.40530	0.211	0.12923	0.716368476681	0.71387	0.5440392449143501	0.54329	0.742978454595	0.63363	0.448153674603	0.31691	T	0.069527	0.33731	T	-0.0790741	0.39866	T	-0.351361	0.39050	T	0.992298901081085	0.82739	D	0.823318	0.48387	T	0.50443697	0.67354	0.484389	0.70152	0.50443697	0.67355	0.484389	0.70153	-9.52	0.70983	D	.	.	0.559	0.67191	A	.	.	6.143375	0.94659	34	0.99444621568533897	0.64971	0.96803	0.71023	D	AEFBI	0.833431	0.75164	D	0.664050852397009	0.77282	6.644672	0.620074757088017	0.76401	6.483862	0.97955389799973	0.30040	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	5.922000	0.69759	11.627000	0.93669	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.590000	0.31140	0.0:0.0:1.0:0.0	17.237	0.86884	816	0.41767	.	.	.	.	.	.	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	0.1	429.76	74	chr6	159246969	.	G	C	429.76	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-2.628e+00;DP=1339;ExcessHet=0.6776;FS=353.850;InbreedingCoeff=-0.1265;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=1.12;ReadPosRankSum=1.07;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:95,22:117:16:.:.:16,0,2821	16	0	4	1
chr6	167966010	167966010	A	G	exonic	AFDN	.	nonsynonymous SNV	AFDN:NM_001291964:exon31:c.A5072G:p.N1691S	.	.	361	1158	3	0	0	3	0.00129366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.001	B	0.324	N	0.951	N	.	.	3.84	T	-0.939	T	0.003	T	0.025	1.056	9.314	-4.72	-1.246	0.877	7.276	0.080	0.0146330820705	.	0.000399361	0.0001	0.0007	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs570431188	3.148e-05	3.078e-05	2.4e-05	3.916e-05	0.0004	2.386e-05	2.125e-05	0.0002	0.0002	0	8.403e-05	0	2.798e-05	0	0.0004	8.341e-06	6.897e-05	0.0003	9.193e-05	9.185e-05	7.711e-05	0.0001	0.0010	5.524e-05	4.362e-05	0.0004	0.0003	9.626e-05	0	0.0001	0	0	0	0	2.94e-05	0.0005	0.0010	0.222	0.19361	T	0.21	0.26714	T	0.0	0.02946	B	0.001	0.04355	B	0.323950	0.14224	N	0.691920	0.99999	0.26500	N	1.525	0.38595	L	3.74	0.03951	T	-0.81	0.22294	N	0.059	0.07398	-0.9394	0.42711	T	0.003	0.00994	T	9	0.017754346	0.00381	T	0.014633	0.34872	T	0.080	0.23350	0.18	0.08751	0.043077524339	0.03247	0.162663734501286	0.16186	.	.	.	.	.	0.023079	0.70060	T	-0.589973	0.00168	T	-0.78904	0.02191	T	0.021687271521823	0.00873	T	0.805919	0.45429	T	0.040872682	0.05915	0.02856619	0.01105	0.040872682	0.05915	0.02856619	0.01105	-2.726	0.07523	T	.	.	0.069	0.03736	B	.;.;.;.	.;.;.;.	0.879320	0.12522	9.054	0.81187520863439511	0.13562	0.66241	0.33010	D	AEFDBI	0.094559	0.19117	N	-0.77663213839146	0.13920	0.6893732	-0.801007497539816	0.14471	0.7562783	0.999968952471454	0.48965	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.85	-4.72	0.03032	0.880000	0.27798	0.214000	0.15995	0.756000	0.94297	0.994000	0.38300	0.000000	0.08366	0.997000	0.79791	0.2934:0.4897:0.2169:0.0	7.276	0.25455	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	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	2034.98	33	chr6	167966010	.	A	G	2034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.080e+00;DP=882;ExcessHet=0.0000;FS=1.168;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-9.020e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/1:89,88:177:99:2049,0,2290	20	0	1	0
chr6	168664103	168664103	A	G	exonic	SMOC2	.	nonsynonymous SNV	SMOC2:NM_001166412:exon12:c.A1315G:p.N439D	Dentin dysplasia, type I, with microdontia and misshapen teeth, Autosomal recessive	.	4	1504	13	1	0	15	0.00496196	.	.	710334	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.461	P	0.107	B	0.011	N	0.988	N	0.805	L	1.38	T	-1.060	T	0.021	T	0.184	1.578	11.23	2.39	0.557	0.985	5.465	0.019	.	0.0059	0.00219649	0.0054	0.0016	0.0024	0	0.0112	0.0076	0.0067	0.0019	0.0052845	817	154602	rs118133242	0.0058	0.0058	0.0057	0.0058	0.0061	0.0057	0.0056	0.0060	0.0060	0.0007	0.0031	0.0148	0	0.0107	0.0058	0.0061	0.0056	0.0016	0.0061	0.0061	0.0062	0.0060	0.0082	0.0058	0.0057	0.0076	0.0074	0.0011	0	0.0059	0.0181	0	0.0143	0.0068	0.0082	0.0080	0.0012	0.166	0.49613	T	0.042	0.50514	D	0.034	0.36363	B	0.025	0.31211	B	0.011281	0.29595	N	0.187332	0.988284	0.24427	N	0.895	0.22405	L	1.37	0.34253	T	-0.99	0.38734	N	0.342	0.41853	-1.0596	0.11855	T	0.021	0.08824	T	10	0.006231904	0.00140	T	.	.	.	0.019	0.03383	.	.	0.3691244813	0.36518	0.1196677143027038	0.11893	0.189727535353	0.21295	0.489148974419	0.37320	T	0.027255	0.19999	T	-0.539061	0.00339	T	-0.536713	0.18621	T	0.00268472858241418	0.00028	T	0.633837	0.28590	T	0.07335905	0.16386	0.08228509	0.18768	0.06620996	0.14223	0.08228509	0.18767	-3.199	0.12468	T	.	.	0.096	0.34470	B	.;.;.	.;.;.	1.529079	0.19621	14.36	0.99333313551211133	0.59856	0.10268	0.15821	N	AEFBI	0.082443	0.16692	N	-0.565855201786278	0.19989	1.050462	-0.552206593589895	0.20748	1.119227	7.69483742683958E-4	0.07776	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.56	2.39	0.28492	1.086000	0.30464	1.514000	0.27045	0.756000	0.94297	0.066000	0.21956	0.000000	0.08366	0.696000	0.34018	0.8689:0.0:0.1311:0.0	5.465	0.15932	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	433.98	33	chr6	168664103	.	A	G	433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.274e+00;DP=767;ExcessHet=0.0000;FS=1.037;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.61;ReadPosRankSum=-6.430e-01;SOR=0.963	GT:AD:DP:GQ:PL	0/1:34,23:57:99:448,0,826	20	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	942.0	42	chr6	170561952	.	A	*,G	942.0	.	AC=35,1;AF=0.833,0.024;AN=42;BaseQRankSum=0.00;DP=3619;ExcessHet=0.1217;FS=0.775;InbreedingCoeff=0.2222;MLEAC=35,1;MLEAF=0.833,0.024;MQ=60.00;MQRankSum=0.00;QD=0.75;ReadPosRankSum=1.62;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,52,0:52:99:1|1:170561949_GCAA_G:2011,158,0,2012,159,2013:170561949	1	15	4	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|1:46,33,0,0:79:99:0|1:170561949_GCAA_G:957,0,1732,1099,1690,3623,1099,1690,3623,3623:170561949	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	0/1:36,43,2:81:99:.:.:1638,0,1255,1523,1171,2674	1	1	3	2
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1014.59	36	chr6	170561967	.	G	*,A	1014.59	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.850;DP=1725;ExcessHet=0.5418;FS=3.273;InbreedingCoeff=0.0735;MLEAC=7,1;MLEAF=0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=2.63;SOR=0.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,28,0:68:99:0|1:170561963_AGC_A:1390,0,1484,1427,1752,3924:170561963	14	1	5	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1537.51	38	chr7	290725	.	C	G	1537.51	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.014;DP=729;ExcessHet=15.6281;FS=215.903;InbreedingCoeff=-0.5582;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=3.11;ReadPosRankSum=0.300;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,19:35:99:0|1:290724_A_G:271,0,154:290724	5	0	14	2
chr7	1936767	1936767	C	T	exonic	MAD1L1	.	nonsynonymous SNV	MAD1L1:NM_001304525:exon2:c.G95A:p.R32H	Lymphoma, somatic (3);Prostate cancer, somatic	.	0	1514	8	0	0	8	0.00263505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.086	B	0.027	B	0.002	N	1.000	N	1.32	L	1.88	T	-1.094	T	0.037	T	0.041	0.521	6.826	-4.92	-1.755	-0.308	6.795	0.035	0.00974158001716	0.0004	.	0.0016	0	0	0	0	0.0026	0	0.0012	0.0005498	85	154602	rs201154265	0.0011	0.0011	0.0011	0.0012	0.0018	0.0011	0.0011	0.0012	0.0012	0.0001	7.808e-05	0.0010	5.347e-05	0.0002	0.0018	0.0013	0.0009	0.0015	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	0.0001	0	6.532e-05	0.0009	0	9.409e-05	0	0.0010	0.0019	0.0010	0.16	0.28395	T	0.117	0.39492	T	0.028	0.19712	B	0.014	0.16862	B	0.001842	0.37840	N	0.283615	1	0.08975	N	0.81	0.20779	L	1.88	0.23884	T	-2.39	0.56630	N	0.149	0.19055	-1.0943	0.04854	T	0.037	0.16160	T	10	0.013055682	0.00278	T	0.009742	0.25427	T	0.035	0.08770	.	.	0.202949470691	0.19918	0.1748863263074709	0.17407	0.142616884564	0.16085	0.494232356548	0.38026	T	0.396544	0.75514	T	-0.672914	0.00053	T	-0.752601	0.03386	T	0.0073815817526415	0.00085	T	0.667933	0.27701	T	0.07151845	0.15840	0.10127591	0.24239	0.096358486	0.22694	0.09634044	0.22887	-4.601	0.37844	T	.	.	0.066	0.04198	B	.;.;.;.;.;.	.;.;.;.;.;.	0.011208	0.04358	1.118	0.96024781848136276	0.28486	0.04808	0.10529	N	AEFDGBCI	0.059712	0.11298	N	-1.47780404249584	0.02007	0.08819427	-1.58392639126945	0.01753	0.07975893	0.999999104900415	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	4.77	-4.92	0.02848	-0.163000	0.09986	-4.350000	0.02203	-1.577000	0.00925	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.1172:0.3464:0.0:0.5364	6.795	0.22905	894	0.26265	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	389.98	34	chr7	1936767	.	C	T	389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.100e-02;DP=756;ExcessHet=0.0000;FS=1.309;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=-4.860e-01;SOR=0.402	GT:AD:DP:GQ:PL	0/1:23,16:39:99:404,0,618	20	0	1	0
chr7	2513251	2513251	-	GATG	exonic	LFNG	.	frameshift insertion	LFNG:NM_001166355:exon2:c.142_143insGATG:p.E56Gfs*2,	.	.	6	688	570	158	100	986	0.391689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	18008.05	36	chr7	2513247	.	AGATG	AGATGGATG,A	18008.05	.	AC=8,2;AF=0.190,0.048;AN=42;BaseQRankSum=1.07;DP=1568;ExcessHet=1.5138;FS=0.554;InbreedingCoeff=-0.0500;MLEAC=8,2;MLEAF=0.190,0.048;MQ=60.00;MQRankSum=0.00;QD=23.54;ReadPosRankSum=-8.200e-02;SOR=0.731	GT:AD:DP:GQ:PL	0/1:40,36,0:76:99:1346,0,1563,1467,1670,3138	12	0	7	0
chr7	4860226	4860226	C	G	exonic	PAPOLB	.	nonsynonymous SNV	PAPOLB:NM_020144:exon1:c.G1585C:p.G529R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.088	B	0.045	B	.	.	1.000	N	0.345	N	.	.	-1.027	T	0.057	T	0.046	-0.637	1.187	2.66	0.819	3.523	8.331	0.049	0.00569580012353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	0.09621	T	0.088	0.25022	B	0.045	0.24526	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.113	0.10056	-1.0270	0.21429	T	0.057	0.23942	T	8	0.12337512	0.23419	T	0.005696	0.14742	T	0.049	0.13647	.	.	0.370608029945	0.36667	0.15260380103135684	0.15182	0.134033539515	0.15102	0.242401435971	0.03010	T	.	.	.	-0.273004	0.11424	T	-0.629928	0.10420	T	0.101087149149884	0.12476	T	0.948505	0.80194	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13644	B	.	.	1.935340	0.24581	16.45	0.42693050946042072	0.03164	0.95188	0.63763	D	AEFGBI	0.337765	0.43545	N	-0.654240595800082	0.17337	0.8912466	-0.598098565084437	0.19542	1.048975	5.54759051862418E-4	0.07304	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.48	2.66	0.30672	3.737000	0.54781	1.814000	0.28986	0.549000	0.26987	0.997000	0.40164	0.004000	0.18990	0.193000	0.21690	0.0:0.7535:0.1579:0.0886	8.331	0.31348	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1677.98	34	chr7	4860226	.	C	G	1677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.775e+00;DP=864;ExcessHet=0.0000;FS=3.044;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.335;SOR=0.968	GT:AD:DP:GQ:PL	0/1:75,66:141:99:1692,0,2105	20	0	1	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,21,0:37:99:.:.:448,0,368,493,431,924	0	6	14	0
chr7	6330718	6330718	G	A	exonic	FAM220A	.	nonsynonymous SNV	FAM220A:NM_001037163:exon2:c.C437T:p.P146L,	.	.	411	1097	14	0	0	14	0.00634058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.007	B	0.005	B	0.919	N	1.000	N	0.55	N	3.23	T	-0.927	T	0.010	T	0.134	3.690	18.75	-3.22	-0.472	-2.194	4.092	0.049	0.00344751853347	0.0016	0.00139776	0.0010	0.0048	0.0005	0	0	0.0007	0.0022	0.0009	0.0009961	154	154602	rs75910050	0.0008	0.0008	0.0008	0.0008	0.0220	0.0008	0.0008	0.0189	0.0177	0.0066	0.0011	0.0005	2.519e-05	0	0.0220	0.0005	0.0022	0.0008	0.0021	0.0021	0.0021	0.0021	0.0053	0.0019	0.0018	0.0047	0.0045	0.0053	0	0.0012	0.0006	0	0	0.0034	0.0010	0.0028	0.0008	0.408	0.10212	T	0.468	0.12316	T	0.007	0.14184	B	0.005	0.11217	B	0.919104	0.08499	N	0.950055	1	0.08975	N	0.55	0.14455	N	3.23	0.06931	T	-2.74	0.58248	D	0.106	0.09066	-0.9274	0.44516	T	0.010	0.03765	T	10	0.0046599805	0.00098	T	0.003448	0.07786	T	0.049	0.13647	.	.	0.104622674875	0.10061	0.04310566517497903	0.04255	0.0417253464101	0.04484	0.242958009243	0.03063	T	0.001488	0.00934	T	-0.668667	0.00056	T	-0.732042	0.04236	T	0.00722983047872792	0.00083	T	0.548745	0.18852	T	0.027243165	0.01890	0.047713682	0.06934	0.027243165	0.01890	0.047713682	0.06933	-3.466	0.15959	T	.	.	0.125	0.26482	B	.;.	.;.	0.233142	0.06140	2.588	0.98839569530909077	0.47102	0.02741	0.07418	N	AEFBI	0.051587	0.09128	N	-1.23948508893055	0.04439	0.2003722	-1.23595987054278	0.05342	0.2543025	2.40447898683566E-4	0.06095	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	-3.22	0.04808	-1.862000	0.01745	.	.	0.654000	0.53741	0.000000	0.06391	0.000000	0.08366	0.516000	0.29383	0.0958:0.4499:0.1961:0.2582	4.092	0.09448	873	0.30802	SIPAR domain;SIPAR 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	0.025	1758.33	35	chr7	6330718	.	G	A	1758.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.44;DP=2618;ExcessHet=0.0000;FS=1.199;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=1.91;SOR=0.570	GT:AD:DP:GQ:PL	0/1:104,74:178:99:1772,0,2595	19	0	1	1
chr7	7673314	7673319	AGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	16242.43	19	chr7	7673310	.	TAGCAGCAGC	T,TAGCAGCAGCAGC,TAGC,TAGCAGC,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	16242.43	.	AC=16,7,3,1,1,1;AF=0.381,0.167,0.071,0.024,0.024,0.024;AN=42;BaseQRankSum=0.257;DP=845;ExcessHet=4.5793;FS=1.329;InbreedingCoeff=-0.2255;MLEAC=16,7,3,1,1,1;MLEAF=0.381,0.167,0.071,0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=28.25;ReadPosRankSum=-2.670e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:13,13,0,0,0,0,0:26:99:474,0,491,513,530,1044,513,530,1044,1044,513,530,1044,1044,1044,513,530,1044,1044,1044,1044,513,530,1044,1044,1044,1044,1044	1	3	5	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	1/1:0,130,0:130:99:.:.:4359,390,0,4359,390,4359	0	18	1	0
chr7	27156238	27156238	T	C	exonic	HOXA7	.	nonsynonymous SNV	HOXA7:NM_006896:exon1:c.A308G:p.K103R,	.	.	415	1095	12	0	0	12	0.00544959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.893	P	0.402	B	0.000	D	0.869	D	1.875	L	-2.75	D	0.207	D	0.426	T	0.073	2.697	14.98	5.59	2.136	3.558	15.771	0.361	.	0.0056	0.0141773	0.0102	0.0323	0.0193	0	0	0.0040	0.0173	0.0204	0.0060154	930	154602	rs35510017	0.0035	0.0035	0.0032	0.0039	0.0200	0.0034	0.0034	0.0188	0.0183	0.0200	0.0096	0.0050	7.596e-05	0	0.0195	0.0018	0.0066	0.0168	0.0087	0.0087	0.0080	0.0094	0.0200	0.0083	0.0081	0.0189	0.0184	0.0200	0	0.0122	0.0046	0	9.406e-05	0.0578	0.0021	0.0175	0.0184	0.191	0.21066	T	0.421	0.14075	T	0.893	0.49136	P	0.402	0.44547	B	0.000058	0.53742	D	0.123621	0.868877	0.35525	D	1.59	0.40313	L	-2.75	0.90792	D	-0.79	0.21860	N	0.368	0.40963	0.207	0.86025	D	0.426	0.76969	T	10	0.0062873065	0.00142	T	.	.	.	0.361	0.68141	.	.	0.870290592605	0.86902	0.4730644349732166	0.47225	1.07468009698	0.76925	0.681364357471	0.64464	T	0.067694	0.33267	T	-0.394623	0.02510	T	-0.32403	0.42131	T	0.0216822671136913	0.00873	T	0.571443	0.20372	T	0.16014619	0.35936	0.25390467	0.51046	0.16014619	0.35936	0.25390467	0.51045	-4.448	0.30203	T	.	.	0.081	0.08224	B	.	.	3.368921	0.46543	22.3	0.98907069079365495	0.48290	0.93334	0.57939	D	ALL	0.699897	0.65709	D	0.38223975594174	0.60459	4.235092	0.433716534570468	0.63678	4.606424	0.999999999999995	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.581474	0.35302	0	.	.	5.59	5.59	0.84677	5.803000	0.68791	6.137000	0.53999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.771	0.77938	203	0.92088	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1036.98	33	chr7	27156238	.	T	C	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.500e-01;DP=755;ExcessHet=0.0000;FS=1.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.73;ReadPosRankSum=1.50;SOR=0.850	GT:AD:DP:GQ:PL	0/1:21,41:62:99:1051,0,507	20	0	1	0
chr7	28956680	28956680	-	GCTGCG	exonic	TRIL	.	nonframeshift insertion	TRIL:NM_014817:exon1:c.1366_1367insCGCAGC:p.Q455_L456insPQ,	.	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	8.994e-05	0	0	0.0002	0	8.472e-05	9.7e-05	15	154602	rs774355324	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0	9.638e-05	0	0	0	0.0014	0.0002	0.0005	0.0003	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0002	0.0002	2.409e-05	0	0.0001	0	0	9.427e-05	0	0.0003	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1961.07	77	chr7	28956680	.	A	AGCTGCG	1961.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.60;DP=1225;ExcessHet=0.1072;FS=3.454;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.20;ReadPosRankSum=-2.820e-01;SOR=1.053	GT:AD:DP:GQ:PL	0/1:33,27:60:99:1032,0,1295	19	0	2	0
chr7	30971980	30971980	G	A	exonic	GHRHR	.	nonsynonymous SNV	GHRHR:NM_000823:exon6:c.G482A:p.R161Q,	Growth hormone deficiency, isolated, type IB	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	3.525	H	1.22	T	-0.173	T	0.316	T	0.929	4.765	26.7	4.66	2.399	8.764	15.093	0.598	0.14232649169	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1423511225	1.231e-05	1.231e-05	1.225e-05	1.238e-05	1.079e-05	7.7e-06	6.35e-06	5.75e-06	4.55e-06	0	0	0	0	7.493e-05	0	1.079e-05	3.312e-05	0	6.578e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999978	0.81001	D	3.63	0.94006	H	1.22	0.37052	T	-3.89	0.73151	D	0.945	0.95256	-0.1733	0.78347	T	0.316	0.68602	T	9	0.98841184	0.99257	D	0.142326	0.82470	D	0.598	0.84074	0.967	0.99679	0.567895071198	0.56453	0.8721766384150222	0.87183	0.519879735987	0.49802	0.502553582191	0.39183	T	0.581754	0.86315	D	0.310365	0.83774	D	0.208042	0.83563	D	0.998424291610718	0.94111	D	0.969503	0.97531	D	0.89280576	0.90749	0.8049431	0.88580	0.89280576	0.90750	0.8049431	0.88581	-11.308	0.81320	D	0.7420922183359305	0.82418	0.433	0.61342	A	.;.	.;.	5.601100	0.92456	32	0.99939332263391323	0.99734	0.98719	0.85981	D	AEFDGBI	0.892877	0.83026	D	0.919001468993172	0.92659	11.55222	0.811484327488168	0.90581	10.473	0.999999995018801	0.74766	0.525926	0.21836	0	0.547309	0.14657	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	4.66	4.66	0.57857	9.568000	0.97316	11.588000	0.93387	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.209000	0.22154	0.0:0.0:1.0:0.0	15.093	0.71881	926	0.17793	GPCR, family 2-like;GPCR, family 2-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	2355.98	38	chr7	30971980	.	G	A	2355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=886;ExcessHet=0.0000;FS=0.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.71;ReadPosRankSum=-5.000e-02;SOR=0.630	GT:AD:DP:GQ:PL	0/1:63,87:150:99:2370,0,1349	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	0/1:44,28:84:99:211,0,698	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	1/1:0,127,0:127:99:.:.:3717,377,0,3717,377,3717	8	5	7	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.995	D	0.547	P	0.460	N	1.000	N	1.39	L	2.15	T	-1.059	T	0.048	T	0.465	2.843	15.47	1.54	0.218	0.068	6.370	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5979.44	105	chr7	47829596	.	G	C,A	5979.44	.	AC=17,3;AF=0.425,0.075;AN=40;BaseQRankSum=-3.700e-02;DP=2719;ExcessHet=43.6797;FS=321.470;InbreedingCoeff=-0.9530;MLEAC=18,3;MLEAF=0.450,0.075;MQ=60.00;MQRankSum=0.00;QD=2.79;ReadPosRankSum=-7.300e-02;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,30,29:119:18:.:.:147,0,755,18,559,776	0	0	17	1
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.086	B	0.052	B	0.006	N	1.000	D	0.845	L	-2.14	D	-0.815	T	0.370	T	0.147	0.709	7.777	-4.68	-0.843	1.044	14.599	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2368	964.53	38	chr7	48103309	.	A	G	964.53	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.089e+00;DP=1700;ExcessHet=4.7172;FS=113.804;InbreedingCoeff=-0.3130;MLEAC=10;MLEAF=0.263;MQ=59.98;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.721;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,16:99:25:.:.:25,0,2386	10	0	9	2
chr7	55152588	55152588	G	A	exonic	EGFR	.	nonsynonymous SNV	EGFR:NM_001346897:exon5:c.G536A:p.R179H	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, Autosomal recessive;Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	833665	EGFR-related_lung_cancer	MedGen:CN130014	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.988	D	0.000	D	0.999	D	1.775	L	-0.02	T	-0.325	T	0.396	T	0.53	4.607	25.1	5.3	2.448	4.545	17.508	0.196	0.0464735616129	.	.	5.829e-05	0	0	0	0	6.082e-05	0	0.0002	4.53e-05	7	154602	rs759106015	2.053e-05	2.121e-05	1.634e-05	2.476e-05	0.0002	1.456e-05	1.264e-05	7.123e-05	5.481e-05	0	0	0	0	0	0.0002	1.619e-05	0	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0	0.121	0.27783	T	0.129	0.56192	T	0.991	0.90584	D	0.829	0.77976	P	0.000002	0.62929	D	0.098646	0.99594	0.46701	D	1.915	0.51223	L	-0.02	0.62918	T	-1.09	0.30555	N	0.49	0.53445	-0.3251	0.74278	T	0.396	0.74836	T	10	0.46462157	0.59494	T	0.046474	0.62475	D	0.196	0.47777	0.598	0.72862	0.70270300816	0.70012	0.5241999765727162	0.52343	1.54032423807	0.87701	0.526009619236	0.42472	T	0.443514	0.87115	T	-0.161655	0.26506	T	-0.233314	0.51451	T	0.676087915897369	0.39611	D	0.952605	0.85096	D	0.5014509	0.67180	0.2179561	0.46481	0.5014509	0.67181	0.2179561	0.46480	-3.743	0.25892	T	0.15882935053039832	0.19272	0.142	0.37274	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.958466	0.81967	27.7	0.99948131899816983	0.99923	0.91275	0.53206	D	AEFDBI	0.529802	0.55076	D	0.616046071119135	0.74188	6.090574	0.616197070354043	0.76115	6.432054	0.999999483995998	0.74766	0.653281	0.48532	0	0.59043	0.45803	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	5.3	5.3	0.74745	4.414000	0.59555	8.369000	0.77044	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.292000	0.24309	0.0:0.0:1.0:0.0	17.508	0.87649	947	0.11584	Furin-like cysteine-rich domain;.;Furin-like cysteine-rich domain;.;.;Furin-like cysteine-rich domain;Furin-like cysteine-rich domain	.	.	.	.	.	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	1751.98	39	chr7	55152588	.	G	A	1751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=921;ExcessHet=0.0000;FS=0.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-3.760e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/1:55,71:126:99:1766,0,1174	20	0	1	0
chr7	75987922	75987922	C	A	splicing	TMEM120A	NM_031925:exon8:c.691+1G>T;NM_001317803:exon8:c.691+1G>T;NM_001363462:exon7:c.794+1G>T	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310573	0.83789	D	0.20834	0.83579	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	6.059350	0.94461	34	0.99147864305022659	0.53737	0.98013	0.78872	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999990251921	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.068591	0.01938	0	0.117559	0.03655	0	0.972978	0.75373	3.41	3.41	0.38145	6.093000	0.71069	7.611000	0.61914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	15.077	0.71751	602	0.67834	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2451.98	48	chr7	75987922	.	C	A	2451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=1041;ExcessHet=0.0000;FS=0.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-4.200e-01;SOR=0.637	GT:AD:DP:GQ:PL	0/1:88,98:186:99:2466,0,2093	20	0	1	0
chr7	87426904	87426904	A	T	exonic	ABCB4	.	nonsynonymous SNV	ABCB4:NM_000443:exon16:c.T1910A:p.I637N	Cholestasis, intrahepatic, of pregnancy, 3, Autosomal recessive, Autosomal dominant;Cholestasis, progressive familial intrahepatic 3, Autosomal recessive;Gallbladder disease 1, Autosomal recessive, Autosomal dominant	.	4	1512	6	0	0	6	0.0019802	.	.	1037823	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.49	T	0.0	B	0.009	B	0.001	N	1.000	N	0.915	L	-2.12	D	-0.733	T	0.418	T	0.13	-1.526	0.016	-2.36	-0.503	0.190	4.658	0.254	0.0932750935927	0.0002	.	0.0001	0	8.7e-05	0	0	4.519e-05	0.0011	0.0005	0.0001229	19	154602	rs202167250	0.0001	0.0001	7.352e-05	0.0001	0.0009	9.051e-05	8.534e-05	0.0006	0.0005	0	4.473e-05	3.828e-05	0	0	0.0009	6.206e-05	0.0002	0.0007	0.0001	0.0001	6.456e-05	0.0002	0.0015	7.623e-05	6.32e-05	0.0007	0.0005	0	0	6.593e-05	0	0	0	0	0.0001	0	0.0015	0.483	0.08188	T	0.589	0.11227	T	0.0	0.02946	B	0.009	0.14300	B	0.001481	0.00791	N	3.438500	1	0.08975	N	0.625	0.15840	N	-2.18	0.86722	D	-1.02	0.26843	N	0.198	0.23253	-0.7332	0.58801	T	0.418	0.76408	T	10	0.024738103	0.00691	T	0.093275	0.76044	D	0.254	0.56428	.	.	0.279370189704	0.27548	0.2983255275896754	0.29745	0.483371570109	0.47292	0.421390205622	0.28028	T	0.191927	0.54692	T	-0.362237	0.04005	T	-0.415374	0.31606	T	0.0402595698833466	0.03738	T	0.818018	0.47523	T	0.076635785	0.17344	0.06567997	0.13346	0.076635785	0.17343	0.06567997	0.13345	-2.072	0.03644	T	0.0714429026924326	0.02843	0.071	0.05668	B	.;.;.;.;.	.;.;.;.;.	1.087697	0.14711	11.26	0.38176797181275923	0.02559	0.06549	0.12562	N	AEFBI	0.207359	0.33354	N	-1.46172775267772	0.02126	0.09355688	-1.49467651410227	0.02387	0.1097215	0.0130269239081041	0.12406	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.92	-2.36	0.06282	0.201000	0.17074	0.089000	0.14491	-0.051000	0.17024	0.000000	0.06391	0.000000	0.08366	0.886000	0.42526	0.5119:0.0:0.206:0.282	4.658	0.12014	469	0.78175	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	503.98	33	chr7	87426904	.	A	T	503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.361;DP=716;ExcessHet=0.0000;FS=1.328;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=0.203;SOR=1.022	GT:AD:DP:GQ:PL	0/1:21,19:40:99:518,0,596	20	0	1	0
chr7	93101794	93101794	G	A	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.C4304T:p.A1435V	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.887	P	0.000	D	0.960	D	1.355	L	1.81	T	-1.035	T	0.107	T	0.592	3.962	20.3	4.35	2.411	7.059	15.932	0.188	0.00661034606428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.0	0.92824	D	0.997	0.70673	D	0.887	0.62952	P	0.000144	0.49130	D	0.078191	0.960491	0.38183	D	2.35	0.67516	M	1.81	0.25182	T	-1.17	0.29933	N	0.527	0.55626	-1.0346	0.18983	T	0.107	0.38906	T	10	0.5147096	0.62299	D	0.00661	0.17444	T	0.188	0.46444	0.343	0.33626	0.405839309607	0.40195	0.25079414112991283	0.24993	0.655654456788	0.58598	0.497941374779	0.38541	T	0.016555	0.13660	T	-0.0574532	0.43303	T	-0.320304	0.42542	T	0.974688947200775	0.70612	D	0.867113	0.56785	D	0.1291053	0.30164	0.11630892	0.28078	0.1291053	0.30164	0.11630892	0.28077	-5.699	0.43685	T	0.4739927135675689	0.55390	0.533	0.66042	A	.;.	.;.	3.682887	0.52433	23.2	0.99880291061353033	0.95653	0.97376	0.74358	D	AEFBI	0.667246	0.63544	D	0.397249371701293	0.61272	4.326125	0.321927718060265	0.56830	3.847072	0.999999813156593	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.35	4.35	0.51454	7.122000	0.76789	9.581000	0.81029	0.654000	0.53741	0.996000	0.39380	1.000000	0.68203	0.083000	0.17415	0.0:0.0:1.0:0.0	15.932	0.79459	808	0.43318	.;.	.	.	.	.	.	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	2148.98	34	chr7	93101794	.	G	A	2148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.427e+00;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-1.421e+00;SOR=0.673	GT:AD:DP:GQ:PL	0/1:93,83:176:99:2163,0,2613	20	0	1	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	0/1:161,42:203:99:.:.:258,0,3730	2	0	19	0
chr7	97009871	97009871	G	C	exonic	DLX6	.	nonsynonymous SNV	DLX6:NM_005222:exon3:c.G706C:p.D236H,	.	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.98	D	0.933	D	0.000	D	1.000	D	1.79	L	-2.81	D	0.544	D	0.806	D	0.416	4.800	27.1	5.76	2.732	7.576	19.974	0.481	0.0873183123038	.	.	3.32e-05	0.0001	0	0	0	1.503e-05	0.0022	0	2.59e-05	4	154602	rs778865296	8.21e-06	8.209e-06	2.723e-06	1.375e-05	0.0002	4.38e-06	3.46e-06	3.85e-06	1.44e-06	0	0	0	0	1.873e-05	0.0002	4.497e-06	4.969e-05	2.319e-05	6.567e-06	1.312e-05	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.431	0.17821	T	0.029	0.54541	D	.	.	.	.	.	.	0.000002	0.62929	D	0.131604	1	0.81001	D	.	.	.	-2.85	0.91363	D	-3.09	0.64246	D	0.325	0.56833	0.544	0.91153	D	0.806	0.93450	D	10	0.33623612	0.50767	T	0.087318	0.74912	D	0.481	0.77142	0.212	0.13066	0.683361847445	0.68066	0.5741661920938673	0.57345	1.72559754066	0.90647	0.75704407692	0.75490	T	0.024963	0.18762	T	0.0932867	0.63557	D	-0.0401307	0.67692	D	0.988691926002502	0.78995	D	0.921608	0.72088	D	.	.	.	.	.	.	.	.	-13.112	0.89818	D	.	.	0.620	0.69690	P	.;.	.;.	4.980708	0.82498	27.8	0.99556063098952685	0.71459	0.96373	0.68821	D	AEFDBHCI	0.939735	0.94073	D	0.725129506815512	0.81280	7.48528	0.739172407432315	0.85347	8.553119	0.999999999998267	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.0	0.00061	3	0.530356	0.10902	0	.	.	5.76	5.76	0.90726	7.943000	0.87192	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0:0.0:1.0:0.0	19.974	0.97297	928	0.17405	.;.	.	.	.	.	.	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	1278.98	33	chr7	97009871	.	G	C	1278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.39;DP=805;ExcessHet=0.0000;FS=1.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=0.181;SOR=0.608	GT:AD:DP:GQ:PL	0/1:56,51:107:99:1293,0,1224	20	0	1	0
chr7	98617646	98617646	C	T	exonic	NPTX2	.	nonsynonymous SNV	NPTX2:NM_002523:exon1:c.C185T:p.A62V,	.	.	424	1045	49	4	0	57	0.0265487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.226	B	0.028	B	.	.	0.996	D	1.1	L	2.92	T	-1.050	T	0.007	T	0.168	4.267	22.3	4.53	2.054	5.483	16.228	0.049	.	.	0.00798722	0.0260	0	0.0147	0.0081	.	0.0143	0	0.0316	0.0027749	429	154602	rs115375965	0.0085	0.0080	0.0080	0.0090	0.0232	0.0083	0.0083	0.0223	0.0219	0.0071	0.0047	0.0131	0.0006	0.0072	0.0105	0.0077	0.0086	0.0232	0.0077	0.0077	0.0082	0.0073	0.0190	0.0073	0.0072	0.0159	0.0147	0.0082	0	0.0042	0.0144	0.0004	0.0061	0.0068	0.0081	0.0057	0.0190	0.003	0.68238	D	0.006	0.70582	D	0.226	0.30455	B	0.028	0.21332	B	.	.	.	.	0.995788	0.42855	D	1.39	0.34934	L	2.92	0.09915	T	-0.85	0.23156	N	0.061	0.03283	-1.0495	0.14537	T	0.007	0.02282	T	9	0.0047870874	0.00101	T	.	.	.	0.049	0.13647	.	.	.	.	0.6093709741241436	0.60869	0.410542690143	0.41835	0.919665932655	0.98298	D	0.264746	0.63655	T	-0.536404	0.00352	T	-0.524359	0.19854	T	0.0290008586872364	0.01838	T	0.950605	0.81072	D	0.30948555	0.53742	0.30403122	0.56432	0.30948555	0.53742	0.30403122	0.56431	-5.498	0.41849	T	.	.	0.156	0.34449	B	.	.	4.400750	0.67996	25.2	0.99822509836095696	0.90502	0.82763	0.41947	D	AEFDBHCIJ	0.743947	0.68709	D	-0.0570587939901521	0.39287	2.314396	0.0573941244764255	0.42430	2.566248	0.999999999999999	0.74766	0.789315	0.99827	0	0.547309	0.14657	0	0.768056	0.98339	0	0.63947	0.58350	0	.	.	4.53	4.53	0.55009	5.599000	0.67280	7.331000	0.58204	0.533000	0.24879	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.228	0.82137	226	0.91233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	497.98	37	chr7	98617646	.	C	T	497.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.530e-01;DP=721;ExcessHet=0.0000;FS=1.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-1.540e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/1:25,21:46:99:512,0,672	20	0	1	0
chr7	100173918	100173918	A	G	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon5:c.T809C:p.M270T,	.	.	425	1087	10	0	0	10	0.00457875	.	.	2675513	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.037	B	0.03	B	0.806	N	1.000	N	0.895	L	0.81	T	-0.984	T	0.082	T	0.258	0.832	8.358	-1.52	-0.224	0.220	3.249	0.028	0.0182527814312	0.0002	.	0.0003	0	0.0007	0	0.0002	0.0003	0.0011	0	0.000207	32	154602	rs199810091	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	0.0001	0.0011	0.0008	0	0.0003	0.0010	0	1.876e-05	0.0019	0.0001	0.0003	0.0001	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0	0	0.0003	0.0012	0	9.416e-05	0.0102	0.0002	0	0	0.025	0.47320	D	0.23	0.25135	T	0.037	0.20876	B	0.03	0.21741	B	0.806378	0.06800	N	1.094290	1	0.08975	N	1.7	0.43825	L	0.81	0.48460	T	-0.93	0.24898	N	0.278	0.31478	-0.9836	0.34164	T	0.082	0.32178	T	10	0.041591376	0.02828	T	0.018253	0.40250	T	0.028	0.06331	.	.	0.136095386433	0.13204	0.25809384976511984	0.25723	0.385980496119	0.39890	0.395523667336	0.24445	T	0.129206	0.45735	T	-0.404977	0.02147	T	-0.487434	0.23659	T	0.010684724201195	0.00150	T	0.409559	0.10569	T	0.12205149	0.28689	0.112317055	0.27100	0.12205149	0.28689	0.112317055	0.27099	-1.892	0.02798	T	.	.	0.091	0.13032	B	.	.	1.914630	0.24320	16.35	0.63200447522113445	0.07161	0.04331	0.09890	N	AEFDBCI	0.035073	0.04452	N	-1.07710849372717	0.07067	0.3271935	-1.09424962846216	0.07812	0.3815308	0.506737191593842	0.20987	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.92	-1.52	0.08181	0.717000	0.25523	2.542000	0.33220	-0.121000	0.13915	0.028000	0.20300	0.568000	0.25556	0.638000	0.32368	0.14:0.3378:0.3966:0.1257	3.249	0.06406	283	0.88803	Glypican, conserved site	.	.	.	.	.	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	1641.98	36	chr7	100173918	.	A	G	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.110e-01;DP=809;ExcessHet=0.0000;FS=1.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=1.43;SOR=0.514	GT:AD:DP:GQ:PL	0/1:50,70:120:99:1656,0,1117	20	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.012	N	1.000	N	-0.69	N	0.82	T	-1.039	T	0.045	T	0.096	1.174	9.778	2.18	0.152	0.340	7.051	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	15996.74	114	chr7	100175805	.	G	C	15996.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.177e+00;DP=2291;ExcessHet=54.0936;FS=322.385;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=0.978;SOR=13.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,33:110:99:0|1:100175805_G_C:835,0,2622:100175805	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|2:0,0,96:96:99:1|1:100773849_CCAT_C:4320,4320,4320,289,289,0:100773849	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|1:0,96,0:96:99:1|1:100773849_CCAT_C:4320,289,0,4320,289,4320:100773849	0	11	5	0
chr7	100779666	100779666	C	T	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon35:c.C6538T:p.L2180F	.	.	414	1084	24	0	0	24	0.0109489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.907	P	0.642	P	0.651	N	1.000	D	.	.	-1.25	T	-0.565	T	0.379	T	0.161	2.874	15.57	2.29	0.680	0.769	4.804	0.283	0.01989167839	0.0007	0.000998403	0.0031	0	0	0	0.0010	0.0036	0	0.0048	0.0013001	201	154602	rs368183208	0.0014	0.0014	0.0012	0.0015	0.0088	0.0013	0.0013	0.0068	0.0061	0.0002	0.0005	0.0003	0	0.0002	0.0088	0.0013	0.0017	0.0045	0.0009	0.0009	0.0007	0.0011	0.0025	0.0008	0.0007	0.0014	0.0011	0.0003	0	0.0016	0	0	9.413e-05	0.0136	0.0011	0.0038	0.0025	.	.	.	0.091	0.40426	T	0.907	0.50062	P	0.642	0.52168	P	0.650508	0.10517	N	0.773450	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.095	0.08646	-0.5645	0.66231	T	0.379	0.73640	T	9	0.049238354	0.04484	T	0.019892	0.42364	T	0.283	0.60100	.	.	0.0401082797425	0.02173	0.6052475545878986	0.60455	0.0746738777092	0.08380	0.309243559837	0.11792	T	0.126171	0.45237	T	-0.328308	0.06241	T	-0.243964	0.50411	T	0.102104824956605	0.12587	T	0.569643	0.20265	T	0.046199527	0.07691	0.06566402	0.13342	0.046199527	0.07691	0.06566402	0.13342	-7.077	0.57491	T	.	.	0.107	0.20235	B	.;.;.;.	.;.;.;.	1.834756	0.23309	15.97	0.99104606594449074	0.52572	0.28562	0.23588	N	AEFBI	0.068160	0.13433	N	-0.216513731733043	0.32457	1.830584	-0.335393843403519	0.26965	1.493027	8.95811513548799E-6	0.01202	0.06567	0.01388	0	0.059962	0.00310	0	0.044551	0.00207	1	0.075334	0.01956	0	.	.	4.17	2.29	0.27658	1.386000	0.34025	0.521000	0.19165	-0.175000	0.10903	0.892000	0.31242	0.087000	0.22477	0.020000	0.11549	0.2413:0.6457:0.0:0.113	4.804	0.12677	684	0.59539	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2158.11	36	chr7	100779666	.	C	T	2158.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.24;DP=910;ExcessHet=0.1072;FS=2.832;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-6.800e-02;SOR=0.924	GT:AD:DP:GQ:PL	0/1:26,43:69:99:1061,0,637	19	0	2	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|1:335,136,56:527:99:0|1:100952942_T_G:4702,0,13657,3359,11715,17257:100952942	0	0	19	0
chr7	100953028	100953028	-	GTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.1249_1250insGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC:p.A417Gfs*177,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	36435.43	913	chr7	100953028	.	G	A,GGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	36435.43	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-2.516e+00;DP=15155;ExcessHet=17.4423;FS=4.148;InbreedingCoeff=-0.5556;MLEAC=14,1;MLEAF=0.333,0.024;MQ=57.92;MQRankSum=-3.081e+00;QD=3.07;ReadPosRankSum=3.23;SOR=1.199	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:585,101,0:686:99:0|1:100953014_G_A:2480,0,24164,4241,24468,28709:100953014	6	0	14	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25169.59	570	chr7	100953156	.	C	T,*	25169.59	.	AC=6,16;AF=0.143,0.381;AN=42;BaseQRankSum=6.06;DP=11437;ExcessHet=43.6797;FS=8.756;InbreedingCoeff=-0.9091;MLEAC=6,16;MLEAF=0.143,0.381;MQ=57.66;MQRankSum=-1.630e+01;QD=2.22;ReadPosRankSum=-4.630e-01;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:195,231,100:526:99:.:.:6869,0,4617,3674,1655,13842	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	0/1:382,98,49:530:99:2965,0,15745,2058,13983,17950	1	0	18	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	2681.5	334	chr7	100953225	.	G	A,*	2681.5	.	AC=9,3;AF=0.265,0.088;AN=34;BaseQRankSum=4.49;DP=8651;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=10,3;MLEAF=0.294,0.088;MQ=58.08;MQRankSum=-1.903e+01;QD=0.52;ReadPosRankSum=-5.501e+00;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:377,31,0:408:99:.:.:334,0,15973,1473,15829,17291	5	0	9	4
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	122869.23	574	chr7	100953371	.	C	A,*	122869.23	.	AC=20,2;AF=0.476,0.048;AN=42;BaseQRankSum=-2.807e+00;DP=13314;ExcessHet=43.6797;FS=5.958;InbreedingCoeff=-0.9091;MLEAC=20,2;MLEAF=0.476,0.048;MQ=57.56;MQRankSum=-1.348e+01;QD=10.82;ReadPosRankSum=0.229;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:195,164,158:596:99:.:.:6271,0,8005,248,1570,7960	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|1:665,122,0:787:99:0|1:100953486_C_A:3081,0,27507,5082,27874,32957:100953486	2	0	17	0
chr7	100954094	100954094	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A2315G:p.H772R,	.	.	808	657	57	0	0	57	0.0415755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs933695519	0.0094	0.0084	0.0088	0.0099	0.0595	0.0091	0.0090	0.0528	0.0502	0.0016	0.0072	0.0349	3.479e-05	0.0009	0.0595	0.0082	0.0130	0.0215	0.0083	0.0088	0.0080	0.0086	0.0316	0.0079	0.0078	0.0275	0.0259	0.0016	0.0787	0.0127	0.0336	0.0004	0.0009	0.0479	0.0089	0.0152	0.0316	.	.	.	0.213	0.27056	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0039747953	0.00077	T	.	.	.	.	.	.	.	.	.	0.02810929783616011	0.02760	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304669	0.05813	T	.	.	.	.	.	.	.	.	-6.03	0.46530	T	.	.	0.163	0.35931	B	.;.	.;.	0.036165	0.04538	1.230	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.370000	0.02682	-8.607000	0.00942	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5719.11	352	chr7	100954094	.	A	G	5719.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.221e+00;DP=7394;ExcessHet=0.1072;FS=5.124;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.74;MQRankSum=8.36;QD=8.16;ReadPosRankSum=0.749;SOR=0.750	GT:AD:DP:GQ:PL	0/1:190,143:333:99:3147,0,5337	19	0	2	0
chr7	100955012	100955012	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3233A:p.R1078K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.317e-06	0.0001	4.898e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	3.939e-05	0	8.995e-06	0.0019	0	1.83e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	0.126	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	0.07244828	0.10815	T	.	.	.	.	.	.	.	.	.	0.042076156409536575	0.04152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-6.363	0.49220	T	.	.	0.154	0.34049	B	.;.	.;.	0.226431	0.06082	2.525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.247000	0.03004	-9.307000	0.00838	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	24713.07	719	chr7	100955012	.	G	C,A	24713.07	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.062e+00;DP=13307;ExcessHet=17.4423;FS=13.525;InbreedingCoeff=-0.5721;MLEAC=14,1;MLEAF=0.333,0.024;MQ=56.37;MQRankSum=-1.052e+01;QD=2.42;ReadPosRankSum=0.662;SOR=2.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:641,56,0:697:99:0|1:100954917_T_C:422,0,26653,2351,26822,29173:100954917	6	0	14	0
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A,	.	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	23255.17	557	chr7	100955959	.	ACC	A,GCC	23255.17	.	AC=15,2;AF=0.357,0.048;AN=42;BaseQRankSum=3.10;DP=16785;ExcessHet=25.1139;FS=4.174;InbreedingCoeff=-0.6800;MLEAC=15,2;MLEAF=0.357,0.048;MQ=57.02;MQRankSum=-1.169e+01;QD=1.66;ReadPosRankSum=-1.368e+00;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:539,60,101:700:99:.:.:956,333,24266,0,18966,20932	4	0	15	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|2:360,125,128:613:99:0|1:100960582_T_A:5857,267,14615,0,11344,14341:100960582	0	0	15	0
chr7	100996232	100996232	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C5669T:p.T1890M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	.	.	.	.	.	.	1.000	N	0	N	2.7	T	-0.973	T	0.019	T	0.06	-0.666	1.084	0.744	0.673	-0.131	.	0.011	0.0173797861704	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1231887143	7.96e-05	0.0006	9.155e-05	6.73e-05	0.0031	6.731e-05	6.256e-05	0.0026	0.0024	0.0031	0.0001	0	0	0	0	3.768e-06	8.842e-05	7.796e-05	0.0008	0.0054	0.0008	0.0008	0.0029	0.0007	0.0006	0.0025	0.0023	0.0029	0	0.0003	0	0	0	0	1.473e-05	0.0005	0	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.895	0.50365	L	2.7	0.12162	T	-1.43	0.35194	N	0.023	0.01740	-0.9734	0.36474	T	0.019	0.07939	T	6	0.042583793	0.03022	T	0.01738	0.39055	T	0.011	0.01250	0.2	0.11384	0.0482279557977	0.04254	0.02543632627579752	0.02494	.	.	0.568692445755	0.48493	T	0.005547	0.05002	T	-0.339044	0.05455	T	-0.72479	0.04567	T	0.0192322482552355	0.00629	T	0.510449	0.16283	T	0.04754467	0.08144	0.09889975	0.23595	0.04754467	0.08144	0.09889975	0.23594	-7.41	0.56975	T	.	.	0.156	0.34514	B	.;.	.;.	2.046236	0.26014	16.97	0.51208319387810564	0.04521	0.00418	0.02065	N	AEFI	0.028299	0.02467	N	-0.858352768303371	0.11844	0.573908	-1.02831286085468	0.09165	0.4544672	1.63987838134513E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.744	0.744	0.17503	-0.044000	0.11977	-1.999000	0.04367	-1.577000	0.00925	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	0.02381	179.98	43	chr7	100996232	.	C	T	179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.95;DP=1129;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.09;MQRankSum=-7.510e-01;QD=3.33;ReadPosRankSum=-8.800e-01;SOR=0.058	GT:AD:DP:GQ:PL	0/1:44,10:54:99:194,0,1427	20	0	1	0
chr7	100996691	100996691	T	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.T6128C:p.V2043A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	.	.	.	.	.	.	1.000	N	0	N	2.66	T	-0.943	T	0.012	T	0.075	-0.416	2.057	-0.576	-0.180	-1.111	3.041	0.053	0.00689331228106	.	.	0.0002	0	0	0	0	0	0	0.0006	3.84e-05	1	26028	rs767427396	2.148e-05	5.689e-05	2.051e-05	2.244e-05	0.0003	1.374e-05	1.107e-05	7.513e-05	5.628e-05	5.083e-05	8.553e-05	0	0	0	0.0003	6.123e-06	4.993e-05	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	7.579e-05	6.204e-05	0.0002	0.0002	0.0003	0	0.0003	0	0	0	0	1.612e-05	0	0	0.566	0.06262	T	0.563	0.09022	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.66	0.12575	T	-0.05	0.07736	N	0.032	0.00882	-0.9434	0.42073	T	0.012	0.04700	T	7	0.04305029	0.03115	T	0.006893	0.18233	T	0.053	0.14996	0.077	0.00572	0.0138822411134	0.00435	0.008497003684550438	0.00813	.	.	0.457367569208	0.32950	T	0.003613	0.03020	T	-0.403184	0.02206	T	-0.816923	0.01515	T	0.0254349916077329	0.01330	T	0.221278	0.03057	T	0.019719224	0.00509	0.03130056	0.01699	0.019719224	0.00508	0.03130056	0.01699	-6.875	0.62365	T	.	.	0.362	0.57311	A	.;.	.;.	-0.754910	0.01199	0.059	0.30904732668997048	0.01714	0.00065	0.00468	N	AEFI	0.029922	0.02914	N	-1.13378982589605	0.06050	0.2775148	-1.29937916625295	0.04440	0.2094076	1.2302482961349E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.891	-0.576	0.11143	-4.137000	0.00326	-20.000000	0.00162	-2.289000	0.00325	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3205:0.0:0.6795	3.041	0.05766	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	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	2482.15	43	chr7	100996691	.	T	C	2482.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=1470;ExcessHet=0.0000;FS=0.622;InbreedingCoeff=-0.0323;MLEAC=1;MLEAF=0.024;MQ=37.65;MQRankSum=-1.590e+00;QD=4.25;ReadPosRankSum=-1.722e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/1:437,147:584:99:2496,0,10672	20	0	1	0
chr7	100999072	100999072	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G8509A:p.E2837K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	.	.	.	.	.	.	1.000	N	0	N	2.67	T	-0.943	T	0.013	T	0.089	0.699	7.729	0.1	0.170	-1.904	.	0.007	0.013734817451	.	.	0.0009	0	0	0	0	0.0015	0	0.0008	3.84e-05	1	26028	rs773068041	1.983e-05	0.0005	1.593e-05	2.384e-05	0.0003	1.358e-05	1.164e-05	0.0002	0.0001	0.0003	0	8.128e-05	0	0	0	1.129e-05	1.762e-05	2.57e-05	9.327e-05	0.0022	0.0001	6.809e-05	0.0003	5.602e-05	4.423e-05	0.0002	0.0001	0.0003	0	6.578e-05	0	0	0	0	1.472e-05	0	0	0.19	0.21144	T	0.339	0.18071	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.67	0.12473	T	-0.91	0.24460	N	0.056	0.02759	-0.9431	0.42121	T	0.013	0.04985	T	6	0.024649203	0.00686	T	0.013735	0.33353	T	0.007	0.00512	0.346	0.34112	0.0138822411134	0.00435	0.12496359971315486	0.12422	.	.	0.500120162964	0.38845	T	0.003695	0.03101	T	-0.37452	0.03372	T	-0.775748	0.02584	T	0.014086260900262	0.00274	T	0.276272	0.05662	T	0.0747081	0.16783	0.09225033	0.21731	0.0747081	0.16783	0.09225033	0.21731	-8.195	0.64416	D	.	.	0.173	0.38747	B	.;.	.;.	0.450798	0.08207	4.946	0.94802603457153267	0.25554	0.00165	0.00980	N	AEFI	0.044306	0.07111	N	-1.17698486655307	0.05349	0.2436335	-1.34567130505186	0.03857	0.1807825	1.17019748283552E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.1	0.1	0.13817	-1.440000	0.02518	-0.565000	0.08457	-0.666000	0.04332	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	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	610.99	56	chr7	100999072	.	G	A	610.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=8.72;DP=2039;ExcessHet=0.0000;FS=5.606;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=35.17;MQRankSum=-8.810e-01;QD=2.25;ReadPosRankSum=-3.300e-02;SOR=1.400	GT:AD:DP:GQ:PL	0/1:231,41:272:99:625,0,6644	20	0	1	0
chr7	101000747	101000747	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C10184T:p.P3395L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	.	.	.	.	.	.	1.000	N	0	N	2.47	T	-0.999	T	0.017	T	0.173	-1.540	0.015	.	-1.268	1.324	.	0.094	0.0241055654086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.257e-07	6.844e-06	0	1.471e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.736e-05	0	0	6.566e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.008	0.59928	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.47	0.14907	T	-3.62	0.69593	D	0.131	0.12627	-0.9992	0.30143	T	0.017	0.06807	T	5	0.08890256	0.15351	T	0.024106	0.47094	T	0.094	0.27141	0.215	0.13498	0.0846915920261	0.08053	0.02369062732102179	0.02321	.	.	0.511341333389	0.40410	T	0.050369	0.28575	T	-0.251247	0.13946	T	-0.598675	0.12923	T	0.221964571421246	0.21561	T	0.39556	0.10511	T	0.057885196	0.11576	0.09711602	0.23102	0.057885196	0.11576	0.09711602	0.23101	-6.031	0.46538	T	.	.	0.188	0.40506	B	.;.	.;.	0.804520	0.11755	8.328	0.24498099568954018	0.01086	0.00585	0.02632	N	AEFI	0.031340	0.03327	N	-1.29506736921487	0.03734	0.1673412	-1.47508842201678	0.02550	0.1174812	3.75354971709761E-5	0.03775	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	.	.	.	1.302000	0.33063	-0.061000	0.12424	-0.702000	0.04048	0.052000	0.21487	0.000000	0.08366	0.000000	0.00833	.	.	.	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	0.02381	301.98	419	chr7	101000747	.	C	T	301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=7121;ExcessHet=0.0000;FS=0.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=26.82;MQRankSum=-6.050e-01;QD=0.90;ReadPosRankSum=1.43;SOR=0.523	GT:AD:DP:GQ:PL	0/1:294,43:337:99:316,0,7925	20	0	1	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.58	M	0.09	T	-0.079	T	0.414	T	0.931	4.705	26.1	4.65	1.469	7.967	14.775	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	1847.14	124	chr7	102934283	.	G	C	1847.14	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-4.298e+00;DP=2977;ExcessHet=6.1002;FS=207.422;InbreedingCoeff=-0.3468;MLEAC=11;MLEAF=0.275;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.257;SOR=12.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,42:147:99:.:.:293,0,2173	10	0	10	1
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.034	B	0.017	B	0.000	D	1.000	D	0.745	N	1.61	T	-1.047	T	0.041	T	0.188	-0.497	1.720	4.33	2.523	2.637	9.900	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1765	390.74	77	chr7	105614066	.	G	C	390.74	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-4.208e+00;DP=2407;ExcessHet=1.7912;FS=149.613;InbreedingCoeff=-0.2427;MLEAC=7;MLEAF=0.206;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=0.978;SOR=11.460	GT:AD:DP:GQ:PL	0/1:78,25:109:99:113,0,1866	11	0	6	4
chr7	108573295	108573295	C	T	exonic	DNAJB9	.	nonsynonymous SNV	DNAJB9:NM_012328:exon3:c.C614T:p.T205I,	.	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.994	D	0.000	D	1.000	D	2.255	M	0.04	T	-0.225	T	0.451	T	0.826	4.360	23.0	5.86	2.776	7.377	19.190	0.417	0.0503463943153	7.7e-05	0.00159744	0.0011	9.919e-05	0.0003	0	0	1.508e-05	0.0045	0.0076	0.0008926	138	154602	rs149830505	0.0005	0.0005	0.0003	0.0007	0.0075	0.0004	0.0004	0.0070	0.0068	0	2.256e-05	0	0	0	0.0002	1.08e-05	0.0005	0.0075	0.0003	0.0003	0.0002	0.0005	0.0087	0.0003	0.0002	0.0066	0.0059	4.813e-05	0	0.0001	0	0	0	0	8.822e-05	0	0.0087	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	0.04	0.62051	T	-3.55	0.68764	D	0.701	0.70527	-0.2253	0.77011	T	0.451	0.78526	T	9	0.011724949	0.00255	T	0.050346	0.64202	D	0.417	0.72705	.	.	0.871338674743	0.87008	0.6388483140659577	0.63818	0.0804335868043	0.09048	0.837632000446	0.87733	D	0.201927	0.55995	T	-0.0950034	0.37250	T	0.0950427	0.76579	D	0.124678432114268	0.14882	T	0.943706	0.78720	D	0.67723936	0.76820	0.6201236	0.77873	0.67723936	0.76822	0.6201236	0.77874	-10.827	0.78701	D	.	.	0.958	0.87815	P	.	.	4.763672	0.77037	26.6	0.99887909880658698	0.96281	0.99094	0.91137	D	AEFDBI	0.926250	0.90706	D	0.836727476226969	0.88341	9.541633	0.834286892232093	0.92065	11.21757	0.999999999999999	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	7.457000	0.79807	7.582000	0.60992	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.190	0.93648	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	1303.98	37	chr7	108573295	.	C	T	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.897;DP=834;ExcessHet=0.0000;FS=2.304;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=-1.190e-01;SOR=0.948	GT:AD:DP:GQ:PL	0/1:76,55:131:99:1318,0,1879	20	0	1	0
chr7	117384751	117384751	A	G	exonic	ASZ1	.	nonsynonymous SNV	ASZ1:NM_001301822:exon5:c.T38C:p.I13T	.	.	.	.	.	.	.	.	.	.	.	2356358	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.954	P	0.424	B	0.000	D	1.000	D	2.095	M	-0.67	T	-0.468	T	0.306	T	0.705	2.707	15.01	4.68	1.043	6.389	10.859	0.493	0.0675848521639	.	.	5.791e-05	0	0.0005	0	0	0	0	6.089e-05	4.53e-05	7	154602	rs780891217	3.905e-05	3.967e-05	4.226e-05	3.58e-05	0.0005	3.051e-05	2.787e-05	0.0003	0.0002	0	0.0005	0	0	0	0	1.8e-05	0.0001	9.294e-05	0.0001	0.0001	0.0001	0.0001	0.0010	8.171e-05	6.727e-05	0.0007	0.0005	7.24e-05	0	0.0010	0	0	0	0	0	0	0	0.002	0.72154	D	0.036	0.52060	D	0.954	0.54400	P	0.424	0.45210	B	0.000126	0.49741	D	0.205081	0.999591	0.47742	D	2.215	0.62545	M	-0.67	0.72458	T	-3.18	0.64478	D	0.775	0.77226	-0.4682	0.69788	T	0.306	0.67712	T	10	0.49768946	0.61363	T	0.067585	0.70207	D	0.493	0.77910	0.379	0.39482	0.73115129609	0.72875	0.33401659238892	0.33314	0.0878256601607	0.09913	0.605622768402	0.53698	T	0.352723	0.72012	T	-0.0658821	0.41983	T	-0.0306902	0.68322	D	0.117653913950862	0.14198	T	0.850615	0.53448	D	0.34773692	0.56891	0.35679978	0.61185	0.34773692	0.56891	0.35679978	0.61185	-8.262	0.62842	D	.	.	0.193	0.41280	B	.	.	3.746835	0.53679	23.4	0.99501038396582031	0.68031	0.90518	0.51760	D	AEFDGBCIJ	0.577858	0.57929	D	0.44949747396105	0.64174	4.666178	0.469540096283827	0.65983	4.893033	0.999999462345436	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.83	4.68	0.58319	6.718000	0.74528	11.166000	0.87810	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.9251:0.0:0.0749:0.0	10.859	0.46024	462	0.78611	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1206.98	35	chr7	117384751	.	A	G	1206.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.339e+00;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-1.390e-01;SOR=0.608	GT:AD:DP:GQ:PL	0/1:34,55:89:99:1221,0,781	20	0	1	0
chr7	124032238	124032238	T	C	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.A766G:p.I256V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.394	B	0.12	B	.	.	0.905	N	0.255	N	1.18	T	-1.045	T	0.043	T	0.229	3.319	17.16	4.26	0.872	2.646	9.465	0.028	0.00309682352866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.03280	T	0.592	0.08161	T	0.394	0.34702	B	0.12	0.32230	B	.	.	.	.	0.905131	0.27622	N	0.81	0.20779	L	1.18	0.37746	T	0.3	0.04091	N	0.102	0.08506	-1.0447	0.15913	T	0.043	0.18451	T	9	0.08238995	0.13593	T	0.003097	0.06726	T	0.028	0.06331	0.306	0.27646	0.0884992946249	0.08302	0.5384612323208492	0.53771	.	.	0.549685418606	0.45813	T	0.019	0.15464	T	-0.165	0.25994	T	-0.474787	0.25003	T	0.396950924387161	0.28827	T	0.730627	0.34608	T	0.09667316	0.22774	0.14163347	0.33721	0.09667316	0.22774	0.14163347	0.33720	-1.938	0.02956	T	.	.	0.222	0.45323	B	.	.	2.108335	0.26829	17.25	0.91703689414627898	0.20998	0.47574	0.28013	N	AEFBCI	0.167188	0.29384	N	-0.287457512271222	0.29631	1.644968	-0.111154528697024	0.34940	2.015554	0.999416261887452	0.39577	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.43	4.26	0.49832	2.136000	0.41744	4.125000	0.41997	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1789:0.8211	9.465	0.37973	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	66.04	136	chr7	124032238	.	T	C	66.04	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.801e+00;DP=1811;ExcessHet=0.1072;FS=124.830;InbreedingCoeff=-0.0698;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=1.53;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,21:135:48:0|1:124032236_G_A:48,0,3612:124032236	18	0	2	1
chr7	124032552	124032552	G	A	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.C452T:p.A151V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.064	B	0.02	B	.	.	0.992	N	0.695	N	.	.	-1.018	T	0.060	T	0.22	1.279	10.18	1.17	0.612	3.000	3.147	0.180	0.0093775740499	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247744300	7.158e-07	1.368e-06	1.412e-06	0	3.173e-05	0	0	.	.	3.173e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.064	0.44905	T	0.064	0.23455	B	0.02	0.19048	B	.	.	.	.	0.991783	0.23983	N	1.95	0.52479	M	.	.	.	-0.93	0.24898	N	0.213	0.23758	-1.0176	0.24495	T	0.060	0.25273	T	8	0.091376424	0.16001	T	0.009378	0.24600	T	0.180	0.45073	0.241	0.17371	0.0138822411134	0.00435	0.11991789268579872	0.11918	.	.	0.751051425934	0.74602	T	0.00378	0.03191	T	-0.154629	0.27589	T	-0.45989	0.26610	T	0.090027997140362	0.11222	T	0.558444	0.19458	T	0.06542047	0.13980	0.075885415	0.16751	0.06542047	0.13979	0.075885415	0.16750	-4.931	0.36082	T	.	.	0.118	0.24226	B	.	.	1.959978	0.24899	16.57	0.99391531224533614	0.62383	0.35694	0.25361	N	AEFDBHCIJ	0.212838	0.33848	N	-0.667395572268876	0.16955	0.8683963	-0.657860360441656	0.18019	0.9607195	0.998846382803767	0.37800	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	3.3	1.17	0.19998	1.192000	0.31759	5.457000	0.48661	0.526000	0.24426	0.046000	0.21249	0.984000	0.30665	0.050000	0.15192	0.1523:0.0:0.5615:0.2861	3.147	0.06085	833	0.38804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	660.98	36	chr7	124032552	.	G	A	660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=1.61;SOR=0.847	GT:AD:DP:GQ:PL	0/1:27,24:51:99:675,0,642	20	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R,	.	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.895	N	2.82	T	-0.911	T	0.159	T	0.493	-1.114	0.131	-3.33	-0.521	-0.728	3.406	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	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	0.3	3229.78	206	chr7	128479325	.	T	C	3229.78	.	AC=9;AF=0.300;AN=30;BaseQRankSum=2.39;DP=4419;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4018;MLEAC=11;MLEAF=0.367;MQ=57.67;MQRankSum=-1.368e+01;QD=1.57;ReadPosRankSum=-3.614e+00;SOR=5.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:209,25:236:99:.:.:525,0,8657	6	0	9	6
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S,	.	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.345	N	2.87	T	-0.882	T	0.184	T	0.33	-1.681	0.012	-0.54	0.001	-0.407	1.070	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	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	0.3	3281.73	207	chr7	128479326	.	G	C	3281.73	.	AC=9;AF=0.300;AN=30;BaseQRankSum=1.60;DP=4446;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4190;MLEAC=11;MLEAF=0.367;MQ=57.73;MQRankSum=-1.377e+01;QD=1.60;ReadPosRankSum=-3.844e+00;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:209,29:238:99:.:.:574,0,8657	6	0	9	6
chr7	131556276	131556276	-	GGCGAC	exonic	PODXL	.	nonframeshift insertion	PODXL:NM_001018111:exon1:c.83_84insGTCGCC:p.S31_Q32insPS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	24221.88	24	chr7	131556270	.	GGGCGAC	G,GGGCGACGGCGAC	24221.88	.	AC=15,13;AF=0.357,0.310;AN=42;BaseQRankSum=0.430;DP=932;ExcessHet=0.0019;FS=0.000;InbreedingCoeff=0.5714;MLEAC=15,13;MLEAF=0.357,0.310;MQ=60.00;MQRankSum=0.00;QD=33.09;ReadPosRankSum=0.348;SOR=0.686	GT:AD:DP:GQ:PL	0/2:15,0,27:42:99:1088,1134,1764,0,630,549	5	3	3	0
chr7	134209000	134209000	T	C	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon16:c.T2140C:p.S714P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999777	0.48980	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10483396	0.19347	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158484	0.01410	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05145	B	.	.	-0.682369	0.01361	0.077	0.49984161383594239	0.04305	0.02836	0.07583	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999999775021	0.74766	0.080785	0.02172	0	0.085267	0.02369	0	0.083675	0.02720	0	0.10565	0.03146	0	0.100775	0.22323	5.52	-9.73	0.00427	-1.415000	0.02575	-3.187000	0.02987	-0.237000	0.07570	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0935:0.1373:0.536:0.2333	6.063	0.19074	877	0.30165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	31.1	1	chr7	134209000	.	T	C	31.1	.	AC=1;AF=0.050;AN=20;BaseQRankSum=-1.383e+00;DP=121;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1309;MLEAC=2;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=7.77;ReadPosRankSum=0.674;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,71	9	0	1	11
chr7	134210113	134210113	G	A	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon16:c.G3253A:p.A1085T	.	.	1210	310	1	1	0	3	0.00481541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.000718	111	154602	rs113987610	0.0054	0.0024	0.0054	0.0053	0.0057	0.0051	0.0050	0.0054	0.0053	0.0004	0.0036	0.0045	0	0.0130	0.0039	0.0057	0.0040	0	0.0042	0.0042	0.0041	0.0043	0.0056	0.0039	0.0038	0.0052	0.0050	0.0009	0.0121	0.0041	0.0066	0	0.0098	0.0034	0.0056	0.0090	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999987	0.18198	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051732957	0.00112	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227477	0.03026	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.	.	0.406270	0.07776	4.460	0.69485390337206165	0.08987	0.10895	0.16267	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999992998058171	0.74766	0.078448	0.01964	0	0.059962	0.00310	0	0.083675	0.02720	0	0.058706	0.01089	0	0.138442	0.26567	5.42	1.35	0.21078	0.644000	0.24455	0.333000	0.17304	0.590000	0.31872	0.105000	0.22895	0.000000	0.08366	0.003000	0.05239	0.1951:0.3386:0.4663:0.0	4.853	0.12908	877	0.30165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	35.65	1	chr7	134210113	.	G	A	35.65	.	AC=2;AF=0.067;AN=30;DP=72;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1654;MLEAC=2;MLEAF=0.067;MQ=60.00;QD=17.82;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	14	1	0	6
chr7	134576422	134576422	A	G	exonic	AKR1B15	.	nonsynonymous SNV	AKR1B15:NM_001367820:exon8:c.A817G:p.T273A	.	.	434	1083	4	1	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.003	B	0.007	B	.	.	1.000	N	-0.42	N	2.35	T	-0.985	T	0.009	T	0.07	-1.354	0.028	-6.91	-2.183	-5.815	2.407	0.012	0.00351951629914	0.0042	0.000998403	0.0035	0.0012	0.0034	0.0007	0.0005	0.0049	0.0022	0.0018	0.0033829	523	154602	rs2458502	0.0047	0.0047	0.0048	0.0046	0.0056	0.0046	0.0046	0.0055	0.0054	0.0007	0.0040	0.0001	0.0004	0.0006	0.0021	0.0056	0.0035	0.0018	0.0034	0.0034	0.0034	0.0034	0.0055	0.0032	0.0031	0.0051	0.0049	0.0008	0	0.0050	0.0009	0	0.0008	0.0034	0.0055	0.0061	0.0019	0.367	0.11659	T	0.2	0.27591	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.63	0.02141	N	2.35	0.16217	T	-0.42	0.14193	N	0.196	0.21580	-0.9850	0.33832	T	0.009	0.03359	T	9	0.017938107	0.00386	T	0.00352	0.08000	T	0.012	0.01476	.	.	0.0401082797425	0.02173	0.2964700184060892	0.29560	0.0411031891715	0.04411	0.271098166704	0.06284	T	.	.	.	-0.747944	0.00018	T	-0.84342	0.01048	T	0.00570585781265705	0.00062	T	0.431557	0.11736	T	.	.	.	.	.	.	.	.	-4.391	0.29435	T	.	.	0.059	0.00861	B	.;.	.;.	-1.991821	0.00103	0.002	0.2796300991337714	0.01413	0.00840	0.03368	N	AEFBI	0.031874	0.03493	N	-1.97895522058099	0.00235	0.01006105	-2.05578042454384	0.00232	0.01024356	0.999835651868481	0.43792	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.46	-6.91	0.01490	-6.766000	0.00067	-7.385000	0.01168	-2.373000	0.00302	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2716:0.2406:0.3777:0.1102	2.407	0.04145	754	0.51307	.;.	.	.	.	.	.	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	1298.98	37	chr7	134576422	.	A	G	1298.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.570e-01;DP=872;ExcessHet=0.0000;FS=1.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=0.481;SOR=0.606	GT:AD:DP:GQ:PL	0/1:73,59:132:99:1313,0,1837	20	0	1	0
chr7	142160207	142160207	G	A	exonic	MGAM2	.	nonsynonymous SNV	MGAM2:NM_001293626:exon21:c.G2294A:p.R765Q,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	.	.	.	.	.	.	-0.154	T	0.399	T	0.911	5.161	32	4.86	2.685	7.313	17.267	0.514	0.0722054183428	.	.	.	.	.	.	.	.	.	.	.	.	.	rs909961815	9.085e-06	7.952e-06	7.924e-06	1.007e-05	1.578e-05	2.66e-06	1.93e-06	5.62e-06	3.36e-06	0	0	0	0	0	0	1.578e-05	0	0	6.573e-06	6.568e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.01	0.56456	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.94	0.73378	D	0.808	0.80375	-0.1538	0.78822	T	0.399	0.75073	T	4	0.9428916	0.93614	D	0.072205	0.71470	D	0.514	0.79217	0.875	0.96581	0.184867976434	0.18130	0.9339809722311773	0.93377	.	.	.	.	.	0.786393	0.94408	D	0.40846	0.90397	D	0.374128	0.91222	D	0.964952170848846	0.67117	D	.	.	.	0.1319006	0.30729	0.22518742	0.47456	0.1319006	0.30729	0.22518742	0.47455	-10.601	0.77425	D	.	.	0.527	0.65793	A	.	.	5.848090	0.93807	33	0.99955301720204859	0.99969	0.98251	0.80941	D	AEFI	0.847342	0.76420	D	0.459849266071545	0.64763	4.738422	0.523276463463817	0.69559	5.377797	0.995219883497634	0.34009	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.86	4.86	0.62624	8.039000	0.89191	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	17.267	0.86975	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	1017.98	37	chr7	142160207	.	G	A	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.92;DP=801;ExcessHet=0.0000;FS=0.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=-1.630e-01;SOR=0.850	GT:AD:DP:GQ:PL	0/1:66,39:105:99:1032,0,1565	20	0	1	0
chr7	142864297	142864299	CCT	-	exonic	EPHB6	.	nonframeshift deletion	EPHB6:NM_004445:exon7:c.497_499del:p.S177del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	.	0.0030	0.0009	0.0027	0.0001	0.0030	0.0040	0.0023	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,84,0,0:84:99:3722,253,0,3722,253,3722,3722,253,3722,3722	0	16	2	0
chr7	142864299	142864299	-	CCT	exonic	EPHB6	.	nonframeshift insertion	EPHB6:NM_004445:exon7:c.499_500insCCT:p.S177_A178insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,84,0,0:84:99:3722,253,0,3722,253,3722,3722,253,3722,3722	0	16	2	0
chr7	143286202	143286202	G	A	exonic	TMEM139	.	nonsynonymous SNV	TMEM139:NM_001282876:exon2:c.G245A:p.R82Q	.	.	425	1082	15	0	0	15	0.00688389	0.9988	0.954	2823279	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.95	P	0.211	B	0.010	N	0.744	N	1.01	L	.	.	-1.045	T	0.048	T	0.087	3.205	16.73	3.13	1.233	1.579	7.574	0.095	.	0.0019	0.00159744	0.0024	0.0008	0.0029	0	0.0002	0.0032	0.0099	0.0015	0.0023932	370	154602	rs146790657	0.0025	0.0025	0.0025	0.0026	0.0096	0.0025	0.0024	0.0075	0.0068	0.0005	0.0029	0.0052	2.519e-05	0.0002	0.0096	0.0027	0.0030	0.0019	0.0023	0.0023	0.0026	0.0021	0.0046	0.0021	0.0021	0.0038	0.0035	0.0007	0.0011	0.0046	0.0058	0	0.0002	0.0068	0.0032	0.0028	0.0017	0.15	0.24661	T	0.746	0.04877	T	0.95	0.53885	P	0.211	0.37346	B	0.009681	0.30255	N	0.225311	0.743693	0.29709	N	1.59	0.40313	L	.	.	.	-2.83	0.59710	D	0.35	0.39153	-1.0450	0.15825	T	0.048	0.20592	T	9	0.0071099997	0.00162	T	0.003285	0.07268	T	0.095	0.27398	.	.	0.0920862733494	0.08535	0.21679922710344496	0.21595	0.466230356228	0.46032	0.267926812172	0.05872	T	0.022751	0.17484	T	-0.553863	0.00276	T	-0.570152	0.15436	T	0.0173244588658675	0.00472	T	0.746125	0.36682	T	0.08172079	0.18790	0.113741964	0.27452	0.08172079	0.18790	0.113741964	0.27451	-3.329	0.14113	T	.	.	0.121	0.25034	B	.;.;.;.;.	.;.;.;.;.	4.935422	0.81403	27.5	0.99885733328785198	0.96126	0.40356	0.26418	N	AEFBCI	0.345561	0.44067	N	0.0359274567454747	0.43496	2.641381	0.0877162844269016	0.43928	2.68462	0.99990493683615	0.45458	0.549168	0.22868	0	0.547309	0.14657	0	0.590023	0.30420	0	0.613276	0.41899	0	.	.	5.0	3.13	0.35090	1.734000	0.37790	6.572000	0.55971	0.672000	0.70159	0.972000	0.34453	1.000000	0.68203	0.970000	0.54328	0.215:0.0:0.785:0.0	7.574	0.27093	840	0.37365	.;.;.;.;.	.	.	.	.	.	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	1478.11	47	chr7	143286202	.	G	A	1478.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.62;DP=768;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=1.40;SOR=0.726	GT:AD:DP:GQ:PL	0/1:31,32:63:99:944,0,781	19	0	2	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.08	B	0.074	B	0.948	N	1.000	N	1.69	L	5.65	T	-0.976	T	0.003	T	0.072	-0.179	3.127	-8.61	-1.743	-1.632	6.528	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4409.3	115	chr7	143478290	.	A	G	4409.3	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.767e+00;DP=2442;ExcessHet=30.0624;FS=186.672;InbreedingCoeff=-0.7419;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.01;SOR=12.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,23:119:99:0|1:143478290_A_G:220,0,3214:143478290	3	0	18	0
chr7	144187123	144187123	G	C	exonic	ARHGEF35	.	nonsynonymous SNV	ARHGEF35:NM_001003702:exon2:c.C1261G:p.L421V	.	.	441	1064	17	0	0	17	0.00792541	.	.	2823292	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.001	B	.	.	1.000	N	0.975	L	.	.	-1.032	T	0.057	T	0.087	0.007	4.049	-4.67	-1.282	-1.471	4.126	0.064	.	0.0030	0.00119808	0.0059	0.0014	0.0041	0.0002	0.0048	0.0100	0.0042	0.0008	0.003357	519	154602	rs200777966	0.0039	0.0042	0.0040	0.0038	0.0091	0.0038	0.0038	0.0070	0.0063	0.0009	0.0024	0.0023	5.054e-05	0.0034	0.0091	0.0045	0.0040	0.0009	0.0027	0.0031	0.0030	0.0024	0.0044	0.0025	0.0024	0.0040	0.0038	0.0009	0	0.0015	0.0030	0	0.0024	0.0072	0.0044	0.0060	0.0004	0.112	0.28900	T	0.72	0.05345	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.385	0.34509	L	.	.	.	-1.72	0.40850	N	0.049	0.02088	-1.0317	0.19905	T	0.057	0.24092	T	8	0.004467815	0.00092	T	.	.	.	0.064	0.18567	.	.	0.0482279557977	0.04254	0.013045466199505439	0.01262	1.1666736912	0.79651	.	.	.	0.038618	0.24903	T	-0.637492	0.00086	T	-0.686432	0.06597	T	0.00445636160050083	0.00048	T	0.392661	0.09777	T	0.064548075	0.13706	0.05295596	0.08825	0.064548075	0.13705	0.05295596	0.08825	-4.147	0.25980	T	.	.	0.107	0.20196	B	.	.	-1.332221	0.00411	0.008	0.72315887758835451	0.09931	0.00603	0.02688	N	AEFI	0.056296	0.10394	N	-1.67525973034684	0.00933	0.0404088	-1.79071861659118	0.00789	0.03522002	2.65246824704526E-5	0.03498	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	2.34	-4.67	0.03080	-1.148000	0.03295	-0.063000	0.12399	-0.699000	0.04065	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	0.3886:0.2006:0.4109:0.0	4.126	0.09595	932	0.16191	Rho guanine nucleotide exchange factor 5/35, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	375.33	33	chr7	144187123	.	G	C	375.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.616e+00;DP=749;ExcessHet=0.0000;FS=5.442;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=47.09;MQRankSum=1.65;QD=5.52;ReadPosRankSum=2.06;SOR=1.497	GT:AD:DP:GQ:PL	0/1:47,21:68:99:389,0,1207	19	0	1	1
chr7	144187825	144187825	C	G	exonic	ARHGEF35	.	nonsynonymous SNV	ARHGEF35:NM_001003702:exon2:c.G559C:p.E187Q	.	.	612	876	28	3	3	37	0.019037	.	.	2337684	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.979	D	0.569	P	.	.	1.000	N	0.46	N	.	.	-1.051	T	0.050	T	0.061	0.785	8.139	-0.617	-0.295	-1.337	5.246	0.066	0.00169180372267	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs201944335	0.0064	0.0077	0.0062	0.0067	0.0139	0.0063	0.0062	0.0106	0.0094	0.0013	0.0022	0.0056	2.667e-05	0.0096	0.0139	0.0072	0.0067	0.0056	0.0051	0.0057	0.0047	0.0055	0.0070	0.0047	0.0045	0.0063	0.0061	0.0013	0.0031	0.0014	0.0081	0	0.0116	0.0165	0.0070	0.0068	0.0041	0.119	0.28026	T	0.0	0.92824	D	0.979	0.59044	D	0.569	0.49832	P	.	.	.	.	1	0.08975	N	0.115	0.08564	N	.	.	.	-1.12	0.28906	N	0.056	0.02759	-1.0508	0.14175	T	0.050	0.21143	T	8	0.0052297115	0.00114	T	0.001692	0.02805	T	0.066	0.19193	.	.	0.0611884634855	0.05136	0.012538113747808237	0.01212	1.20996141533	0.80807	.	.	.	0.027401	0.20077	T	-0.324106	0.06567	T	-0.703332	0.05646	T	0.0263475960612305	0.01452	T	0.441056	0.12198	T	0.04931713	0.08737	0.02897034	0.01186	0.04931713	0.08736	0.02897034	0.01186	-3.608	0.17973	T	.	.	0.142	0.31253	B	.	.	0.000811	0.04287	1.074	0.82756175661562648	0.14358	0.02487	0.06962	N	AEFI	0.047717	0.08064	N	-0.732376235384541	0.15117	0.7590086	-0.930539775724398	0.11375	0.5791232	1.16699438665459E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	2.63	-0.617	0.10999	-0.845000	0.04448	-0.671000	0.07934	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.0:0.5001:0.0:0.4999	5.246	0.14812	932	0.16191	Rho guanine nucleotide exchange factor 5/35, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	264.98	12	chr7	144187825	.	C	G	264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.971;DP=560;ExcessHet=0.0000;FS=3.821;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=25.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=1.09;SOR=0.223	GT:AD:DP:GQ:PL	0/1:10,12:22:99:279,0,221	20	0	1	0
chr7	144374835	144374835	G	A	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon11:c.G4244A:p.R1415H,	.	.	462	1039	21	0	0	21	0.0100048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.997	D	0.000	D	0.980	D	1.95	M	-2.27	D	-0.440	T	0.348	T	0.472	2.604	14.67	5.56	2.627	6.880	17.092	0.255	.	.	.	0.0080	0.0013	0.0042	0.0026	0.0110	0.0105	0.0071	0.0092	0.0006147	16	26028	rs200961550	0.0043	0.0063	0.0044	0.0043	0.0075	0.0042	0.0041	0.0052	0.0049	0.0009	0.0014	0.0017	0.0024	0.0047	0.0075	0.0051	0.0042	0.0026	0.0039	0.0061	0.0039	0.0039	0.0059	0.0037	0.0035	0.0054	0.0052	0.0011	0.0071	0.0017	0.0027	0.0025	0.0065	0.0075	0.0059	0.0028	0.0035	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.979904	0.39610	D	2.075	0.57047	M	-2.27	0.87433	D	-4.2	0.77965	D	0.296	0.33469	-0.4397	0.70740	T	0.348	0.71265	T	10	0.012568891	0.00270	T	.	.	.	0.561	0.82003	.	.	0.824091401722	0.82242	0.5768530586280034	0.57614	.	.	0.68102478981	0.64415	T	0.35032	0.71805	T	0.117721	0.66143	D	-0.0686785	0.65721	T	0.0219139906017615	0.00899	T	0.929907	0.74113	D	0.5335882	0.69034	0.41468868	0.65605	0.5335882	0.69035	0.41468868	0.65605	-9.133	0.68549	D	.	.	0.364	0.57460	A	.;.	.;.	5.639534	0.92734	33	0.99912501162681988	0.98167	0.90887	0.52449	D	AEFI	0.618592	0.60434	D	0.247242073902422	0.53501	3.518827	0.236437274447454	0.51882	3.366989	0.0191690049949025	0.13135	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.56	5.56	0.83678	5.211000	0.65052	11.857000	0.98226	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.462000	0.28163	0.0:0.0:1.0:0.0	17.092	0.86500	953	0.10115	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	90.34	22	chr7	144374835	.	G	A	90.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.70;DP=492;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0257;MLEAC=1;MLEAF=0.025;MQ=26.84;MQRankSum=0.605;QD=2.82;ReadPosRankSum=-1.300e+00;SOR=0.090	GT:AD:DP:GQ:PL	0/1:25,7:32:99:104,0,692	19	0	1	1
chr7	151016131	151016133	CTC	-	exonic	ATG9B	.	nonframeshift deletion	ATG9B:NM_001317056:exon12:c.2623_2625del:p.E875del,	.	.	414	1087	21	0	0	21	0.0095672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.000599042	0.0017	0	0	0	0	0.0007	0	0.0047	0.0002264	35	154602	rs575751217	0.0004	0.0004	0.0002	0.0005	0.0036	0.0003	0.0003	0.0032	0.0031	3.185e-05	0.0001	0	0	4.1e-05	0.0027	0.0002	0.0006	0.0036	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0002	0.0034	0.0029	4.814e-05	0	0.0005	0	0	9.418e-05	0	0.0002	0.0005	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2126.94	40	chr7	151016130	.	TCTC	T	2126.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.460e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.16;ReadPosRankSum=2.14;SOR=0.747	GT:AD:DP:GQ:PL	0/1:42,54:96:99:2141,0,1581	20	0	1	0
chr7	152248140	152248140	T	C	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon14:c.A2294G:p.E765G,	.	.	414	990	118	0	0	118	0.056244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.06	B	0.018	B	0.000	D	1.000	D	1.04	L	-1.93	D	-0.559	T	0.389	T	0.273	1.221	9.954	4.53	0.983	2.545	8.793	0.213	.	.	.	0.0302	0.0363	0.0099	0.0104	0.0305	0.0277	0.0379	0.0610	0.0002305	6	26028	rs202098135	6.94e-06	0.0013	1.382e-06	1.255e-05	3.545e-05	3.51e-06	2.56e-06	9.42e-06	4.61e-06	0	2.26e-05	0	0	0	0	4.565e-06	1.676e-05	3.545e-05	2.645e-05	0.0017	0	5.412e-05	7.298e-05	8.18e-06	5.17e-06	1.935e-05	1.036e-05	7.298e-05	0	6.568e-05	0	0	0	0	0	0	0	0.004	0.68238	D	.	.	.	0.06	0.23119	B	0.018	0.18489	B	0.000267	0.46590	D	0.000000	0.84987	0.35204	D	2.38	0.68558	M	-1.93	0.84919	D	-3.01	0.62518	D	0.21	0.23380	-0.5589	0.66446	T	0.389	0.74327	T	10	0.004967302	0.00106	T	.	.	.	0.213	0.50496	.	.	.	.	0.4837393690712426	0.48293	0.0330274093867	0.03452	0.340184807777	0.16466	T	0.358057	0.72467	T	0.0232051	0.54813	T	-0.204444	0.54224	T	0.0378793499843809	0.03311	T	0.818018	0.47523	T	0.14122255	0.32550	0.16089383	0.37452	0.14122255	0.32549	0.16089383	0.37451	-4.695	0.33343	T	0.399851985512444	0.49182	0.086	0.10883	B	.;.	.;.	2.783319	0.36570	20.3	0.99485148167057358	0.67124	0.93407	0.58135	D	AEFGBI	0.154510	0.27954	N	-0.430237841499609	0.24415	1.318133	-0.330419226512641	0.27121	1.502754	0.958528990205834	0.28368	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.68	4.53	0.55009	2.762000	0.47278	1.545000	0.27254	0.665000	0.62972	0.998000	0.41325	0.991000	0.31484	0.326000	0.25110	0.0:0.1446:0.0:0.8554	8.793	0.34025	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	170.98	158	chr7	152248140	.	T	C	170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.720;DP=2930;ExcessHet=0.0000;FS=62.911;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.24;MQRankSum=-4.395e+00;QD=1.02;ReadPosRankSum=2.27;SOR=6.101	GT:AD:DP:GQ:PL	0/1:150,18:168:99:185,0,4567	20	0	1	0
chr8	6445112	6445112	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172575:exon7:c.G1246A:p.V416I	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	899936	Microcephaly_1,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.824	N	1.000	N	0.195	N	3.19	T	-0.923	T	0.008	T	0.033	-0.600	1.318	-4.88	-0.370	-0.220	4.098	0.006	0.00274249407825	.	0.00159744	0.0004	0	8.645e-05	0.0002	0	0	0.0022	0.0024	0.0003428	53	154602	rs531526435	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0023	0.0021	5.974e-05	0	0	0.0002	0	0.0003	1.349e-05	0.0002	0.0025	0.0001	0.0001	0.0001	0.0001	0.0027	6.509e-05	5.321e-05	0.0016	0.0013	4.812e-05	0	6.537e-05	0	0	0	0	0	0	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.823533	0.09160	N	0.922363	1	0.08975	N	0.57	0.15267	N	3.19	0.07353	T	0.27	0.04306	N	0.043	0.01658	-0.9228	0.45168	T	0.008	0.02926	T	10	0.0034584403	0.00061	T	0.002742	0.05665	T	0.006	0.00375	0.143	0.04650	0.255777322467	0.25185	0.04598565669642853	0.04542	.	.	0.235667839646	0.02414	T	0.05405	0.29613	T	-0.746068	0.00019	T	-0.850309	0.00955	T	0.0100663501184015	0.00135	T	.	.	.	0.017316908	0.00263	0.017646225	0.00036	0.017316908	0.00263	0.017646225	0.00036	-3.513	0.16614	T	.	.	0.071	0.04847	B	.;.;.	.;.;.	-0.758350	0.01191	0.058	0.25403568315035979	0.01169	0.00324	0.01698	N	AEFBI	0.011558	0.00105	N	-1.64797043777782	0.01044	0.04526822	-1.64718870794519	0.01390	0.06282937	0.978832305703481	0.29963	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	-4.88	0.02884	-0.942000	0.04031	-0.202000	0.10935	-1.654000	0.00822	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.2088:0.5175:0.1571:0.1166	4.098	0.09475	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2343.98	44	chr8	6445112	.	G	A	2343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=1205;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=1.73;SOR=0.658	GT:AD:DP:GQ:PL	0/1:75,92:167:99:2358,0,1677	20	0	1	0
chr8	9088538	9088538	G	A	exonic	ERI1	.	nonsynonymous SNV	ERI1:NM_001354638:exon7:c.G886A:p.G296R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0501198	.	.	.	.	.	.	.	.	0.0175196	456	26028	rs80164148	0	0.0003	0	0	.	0	0	.	.	.	.	.	.	0	.	0	.	.	0.0088	0.0089	0.0080	0.0096	0.1829	0.0084	0.0082	0.1732	0.1693	0.0013	0	0.0026	0.0009	0.1829	0.0008	0	0.0027	0.0109	0.0162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	39.47	49	chr8	9088538	.	G	A	39.47	.	AC=2;AF=0.111;AN=18;DP=49;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=60.00;QD=19.74;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	8	1	0	12
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.027	B	0.014	B	.	.	1.000	N	0.345	N	3.31	T	-0.952	T	0.010	T	0.123	0.824	8.317	-1.96	-0.572	0.007	4.524	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4444	23209.27	218	chr8	10609944	.	A	G	23209.27	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-3.977e+00;DP=5343;ExcessHet=20.9642;FS=235.485;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=5.49;ReadPosRankSum=0.786;SOR=14.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:212,67:279:99:.:.:456,0,7077	2	0	16	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-1.090	0.153	0.493	0.514	-0.384	6.300	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,123,0:283:99:.:.:2513,0,4037,2987,4393,7379	0	0	15	4
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-0.967	0.313	0.493	0.514	-0.384	6.300	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,123,0:283:99:.:.:2513,0,4037,2987,4393,7379	0	0	15	4
chr8	17957605	17957605	G	A	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon12:c.G1870A:p.E624K	.	.	1	1495	26	0	0	26	0.00862069	.	.	751049	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.49	T	0.99	D	0.979	D	0.014	N	1.000	D	1.39	L	3.4	T	-1.154	T	0.069	T	0.354	3.038	16.14	5.15	2.784	4.096	16.920	0.106	0.00681394270651	0.0003	0.000798722	0.0023	0	0.0033	0.0005	0	0.0007	0	0.0076	0.0009832	152	154602	rs200548498	0.0007	0.0007	0.0005	0.0009	0.0101	0.0007	0.0007	0.0080	0.0073	0.0002	0.0004	0	0	1.953e-05	0.0101	0.0003	0.0007	0.0077	0.0006	0.0006	0.0004	0.0008	0.0087	0.0005	0.0005	0.0066	0.0059	2.406e-05	0	0.0011	0	0	0	0.0034	0.0003	0.0028	0.0087	0.306	0.39334	T	0.021	0.58089	D	0.89	0.48942	P	0.419	0.45047	B	0.013640	0.28781	N	0.426089	0.985317	0.40266	D	.	.	.	3.4	0.19450	T	-1.44	0.41809	N	0.427	0.57604	-1.1540	0.00911	T	0.069	0.28346	T	10	0.005885303	0.00132	T	0.006814	0.18010	T	0.106	0.30130	.	.	0.518858945281	0.51528	0.057921824756811104	0.05733	.	.	0.425548821688	0.28600	T	0.028726	0.20742	T	-0.447732	0.01164	T	-0.411067	0.32103	T	0.0327865182706198	0.02435	T	0.973003	0.90628	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.30049	B	.;.;.;.;.	.;.;.;.;.	4.307470	0.65821	24.9	0.99789681366376193	0.87572	0.92451	0.55742	D	AEFBI	0.281370	0.39496	N	0.382420225242975	0.60468	4.236178	0.430501876940594	0.63474	4.581818	0.999999154729193	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.15	5.15	0.70287	4.206000	0.58271	10.023000	0.83142	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.920	0.86031	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1374.98	39	chr8	17957605	.	G	A	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.90;DP=903;ExcessHet=0.0000;FS=2.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-1.320e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/1:70,48:118:99:1389,0,1845	20	0	1	0
chr8	18222696	18222696	T	G	exonic	NAT1	.	nonsynonymous SNV	NAT1:NM_001160174:exon1:c.T649G:p.F217V	.	.	0	1512	10	0	0	10	0.00329598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.98	D	0.000	D	1.000	D	3.85	H	4.2	T	-1.028	T	0.055	T	0.618	2.212	13.35	4.21	1.679	5.747	11.536	0.309	0.0261605364514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171885310	1.368e-06	1.368e-06	2.723e-06	0	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.007	0.69154	D	0.99	0.73220	D	0.957	0.74843	D	0.000004	0.62929	D	0.062472	0.999974	0.53665	D	4.04	0.96988	H	4.2	0.02689	T	-5.88	0.89152	D	0.635	0.65330	-1.0277	0.21200	T	0.055	0.23375	T	10	0.9755274	0.97305	D	0.026161	0.49088	D	0.309	0.63055	0.933	0.98990	0.403469152278	0.39964	0.8337172100996877	0.83330	0.0917472706437	0.10355	0.440707713366	0.30673	T	0.319622	0.69089	T	-0.00645039	0.50762	T	-0.247042	0.50108	T	0.982955038547516	0.74805	D	0.839416	0.51368	T	0.9388053	0.95125	0.7097968	0.82883	0.9388053	0.95125	0.7097968	0.82884	-11.11	0.80258	D	.	.	0.852	0.81771	P	.;.;.;.;.;.	.;.;.;.;.;.	3.835576	0.55468	23.6	0.96384372317559464	0.29630	0.97279	0.73757	D	AEFBI	0.593672	0.58890	D	0.466709007220709	0.65156	4.787349	0.233830297838367	0.51734	3.353444	0.98836189474093	0.31492	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	4.21	4.21	0.48984	5.729000	0.68186	0.199000	0.15831	0.609000	0.47794	1.000000	0.71638	0.004000	0.18990	0.699000	0.34110	0.0:0.0:0.0:1.0	11.536	0.49892	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	1886.98	34	chr8	18222696	.	T	G	1886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.670e-01;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-5.270e-01;SOR=0.698	GT:AD:DP:GQ:PL	0/1:80,78:158:99:1901,0,2002	20	0	1	0
chr8	22128966	22128966	G	A	exonic	HR	.	nonsynonymous SNV	HR:NM_005144:exon2:c.C205T:p.P69S	Alopecia universalis, Autosomal recessive;Atrichia with papular lesions, Autosomal recessive;Hypotrichosis 4, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	700521	Alopecia_universalis_congenita|Atrichia_with_papular_lesions|not_provided	MONDO:MONDO:0008757,MedGen:C1859877,OMIM:203655,Orphanet:701|MONDO:MONDO:0008847,MedGen:C1859592,OMIM:209500,Orphanet:86819|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.97	D	0.558	P	0.000	D	0.750	N	0.975	L	-1.04	T	-0.494	T	0.304	T	0.171	2.305	13.67	2.95	1.242	0.887	6.247	0.250	0.112876543762	0.0032	0.00119808	0.0032	0.0013	0.0010	0	0.0005	0.0051	0.0022	0.0013	0.0033829	523	154602	rs78621054	0.0041	0.0041	0.0040	0.0041	0.0048	0.0040	0.0040	0.0047	0.0047	0.0007	0.0019	0.0049	0	0.0007	0.0014	0.0048	0.0035	0.0012	0.0033	0.0033	0.0034	0.0031	0.0056	0.0030	0.0029	0.0051	0.0049	0.0011	0	0.0018	0.0046	0	0.0008	0	0.0056	0.0057	0.0012	0.002	0.72154	D	0.063	0.46862	T	0.518	0.53479	P	0.197	0.49494	B	0.000399	0.44960	D	0.000000	0.750033	0.29647	N	1.935	0.51832	L	-1.04	0.76819	T	-1.77	0.48523	N	0.143	0.20660	-0.4936	0.68879	T	0.304	0.67519	T	10	0.005213022	0.00113	T	0.112877	0.79118	D	0.250	0.55888	.	.	0.781890309608	0.77987	0.4244157769453769	0.42358	0.182285795037	0.20492	0.338969171047	0.16284	T	0.171531	0.51969	T	-0.406894	0.02085	T	-0.355471	0.38575	T	0.0321359294420155	0.02327	T	0.742826	0.36203	T	0.14140585	0.32585	0.20665391	0.44889	0.12563503	0.29446	0.25754553	0.51472	-4.008	0.23923	T	.	.	0.082	0.13923	B	.;.	.;.	1.192078	0.15836	12.14	0.98610206724257632	0.43625	0.63247	0.32030	D	AEFDGBCI	0.213305	0.33890	N	-0.095966645408073	0.37570	2.187617	-0.0637433459907197	0.36901	2.153549	0.999974625569855	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.8	2.95	0.33285	0.200000	0.17055	2.085000	0.30516	-0.126000	0.13398	0.099000	0.22773	1.000000	0.68203	0.450000	0.27895	0.0964:0.0:0.7207:0.183	6.247	0.20030	589	0.68969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1368.98	39	chr8	22128966	.	G	A	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.366;DP=817;ExcessHet=0.0000;FS=1.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.095;SOR=0.900	GT:AD:DP:GQ:PL	0/1:60,55:115:99:1383,0,1587	20	0	1	0
chr8	22618717	22618717	A	T	exonic	CCAR2	.	nonsynonymous SNV	CCAR2:NM_001363068:exon18:c.A2318T:p.E773V	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.911	P	0.587	P	0.166	N	1.000	D	1.525	L	7.64	T	-0.714	T	0.231	T	0.725	2.164	13.19	5.97	2.281	4.378	12.839	0.200	0.0191005616374	0.0002	.	0.0001	0	8.645e-05	0	0	0.0003	0	0	0.0001552	24	154602	rs148552616	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0	8.944e-05	0	0	3.758e-05	0.0002	0.0004	0.0002	4.637e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.243e-05	0.0002	0.0001	7.241e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0	0.038	0.49613	D	0.02	0.60337	D	0.567	0.50336	P	0.165	0.50368	B	0.166267	0.17509	N	0.588384	0.886262	0.38770	D	1.525	0.38595	L	7.64	0.00350	T	-2.76	0.67014	D	0.417	0.51761	-0.7137	0.59771	T	0.231	0.59719	T	10	0.22674897	0.39538	T	0.019101	0.41369	T	0.205	0.49236	.	.	0.409859612472	0.40601	0.5529503573762466	0.55221	0.226598177082	0.25209	0.435814201832	0.30004	T	0.434995	0.78188	T	-0.204167	0.20205	T	-0.223631	0.52386	T	0.205322984583608	0.20706	T	0.864713	0.56210	D	0.1321704	0.30785	0.102173455	0.24481	0.1321704	0.30785	0.102173455	0.24480	-7.096	0.54732	T	.	.	0.234	0.52293	B	.;.;.;.	.;.;.;.	3.881232	0.56413	23.7	0.97965287417514091	0.37209	0.94405	0.61061	D	AEFBCI	0.687731	0.64898	D	0.217256695686896	0.52036	3.380369	0.270604539578497	0.53831	3.550179	0.999999832072361	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.97	5.97	0.96935	5.892000	0.69531	11.197000	0.88883	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.075000	0.16954	1.0:0.0:0.0:0.0	12.839	0.57175	901	0.24189	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1505.98	34	chr8	22618717	.	A	T	1505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.850e-01;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-1.443e+00;SOR=0.733	GT:AD:DP:GQ:PL	0/1:77,60:137:99:1520,0,2029	20	0	1	0
chr8	24442522	24442522	G	T	exonic	ADAM7	.	nonsynonymous SNV	ADAM7:NM_003817:exon2:c.G102T:p.K34N,	.	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.922	P	0.742	P	0.492	N	1.000	N	2.575	M	3.22	T	-1.077	T	0.047	T	0.081	1.444	10.77	1.43	0.303	0.700	5.864	0.056	0.00536651275596	0.0002	0.000599042	0.0003	0.0003	0.0003	0	0.0003	0.0003	0	0.0003	0.0002458	38	154602	rs146117431	0.0004	0.0004	0.0004	0.0004	0.0062	0.0004	0.0004	0.0046	0.0041	0.0003	0.0005	0	0	0.0002	0.0062	0.0004	0.0007	0.0002	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	6.542e-05	0	0	9.429e-05	0.0068	0.0004	0.0028	0.0002	0.027	0.63226	D	0.014	0.72224	D	0.922	0.51142	P	0.742	0.55764	P	0.492338	0.12043	N	0.737317	0.999999	0.08975	N	2.655	0.77738	M	3.22	0.07024	T	-3.51	0.68298	D	0.257	0.34767	-1.0768	0.07983	T	0.047	0.20195	T	10	0.05808127	0.06773	T	0.005367	0.13771	T	0.056	0.15993	0.731	0.86460	0.388812400583	0.38497	0.4512355964274962	0.45041	0.306425813064	0.32941	0.399008542299	0.24931	T	0.088831	0.43789	T	-0.53019	0.00383	T	-0.665208	0.07919	T	0.0554332700838893	0.06429	T	0.693931	0.30359	T	0.22774166	0.45480	0.19811907	0.43629	0.22774166	0.45480	0.19811907	0.43628	-5.604	0.53698	T	.	.	0.639	0.70478	P	.;.;.	.;.;.	2.383390	0.30594	18.49	0.99554569252469893	0.71335	0.06663	0.12681	N	AEFI	0.039053	0.05619	N	-0.173834730936027	0.34227	1.951068	-0.404993636500972	0.24850	1.36314	1.5213647629851E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	1.43	0.21585	0.722000	0.25595	0.691000	0.20763	0.671000	0.69459	0.034000	0.20669	0.120000	0.22892	0.636000	0.32315	0.359:0.0:0.641:0.0	5.864	0.18016	852	0.35056	.;.;.	.	.	.	.	.	Uncertain significance	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	3643.11	38	chr8	24442522	.	G	T	3643.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.703e+00;DP=957;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=1.77;SOR=0.710	GT:AD:DP:GQ:PL	0/1:60,70:130:99:1637,0,1463	19	0	2	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	0/1:129,52:181:99:.:.:592,0,2816	8	0	10	3
chr8	30138668	30138668	C	T	exonic	MBOAT4	.	nonsynonymous SNV	MBOAT4:NM_001100916:exon2:c.G208A:p.A70T,	.	.	399	1115	7	1	0	9	0.00401965	.	.	2343134	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.008	B	0.001	B	.	.	1.000	N	0.695	N	2.0	T	-0.987	T	0.025	T	0.121	-0.449	1.920	-5.04	-1.422	-0.094	5.121	0.022	0.00988486693314	.	0.000399361	0.0003	0	0	0	0	0.0002	0	0.0005	7.76e-05	12	154602	rs140611326	0.0002	0.0002	0.0002	0.0003	0.0020	0.0002	0.0002	0.0011	0.0009	3.166e-05	0.0003	0	5.597e-05	0	0.0020	0.0002	0.0006	0.0009	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	2.404e-05	0	0.0002	0	0.0004	0	0	0.0003	0	0.0010	0.536	0.06891	T	0.035	0.52389	D	0.008	0.14655	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.0	0.21473	T	-0.77	0.21429	N	0.071	0.04426	-0.9866	0.33445	T	0.025	0.10553	T	8	0.016070753	0.00338	T	0.009885	0.25743	T	0.022	0.04323	.	.	0.259761712551	0.25597	0.05550857490642651	0.05491	.	.	0.357490837574	0.19020	T	0.046899	0.27563	T	-0.59457	0.00157	T	-0.732151	0.04231	T	0.00242045335812812	0.00025	T	0.356464	0.08103	T	0.023786988	0.01148	0.0514782	0.08293	0.023786988	0.01148	0.0514782	0.08292	-4.342	0.28761	T	.	.	0.074	0.05231	B	.	.	-0.404907	0.02194	0.218	0.75288118324513909	0.11017	0.01933	0.05892	N	AEFDBI	0.038420	0.05435	N	-1.63626779289465	0.01094	0.0474943	-1.68882355205312	0.01187	0.0534474	0.999998776367226	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.44	-5.04	0.02742	-0.012000	0.12637	-3.978000	0.02415	-2.803000	0.00184	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.3006:0.2561:0.0:0.4434	5.121	0.14195	912	0.21483	.	.	.	.	.	.	Uncertain significance	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	2230.98	80	chr8	30138668	.	C	T	2230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.243;DP=2037;ExcessHet=0.0000;FS=0.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.90;ReadPosRankSum=0.127;SOR=0.775	GT:AD:DP:GQ:PL	0/1:49,83:132:99:2245,0,1112	20	0	1	0
chr8	31058542	31058542	A	G	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon2:c.A95G:p.K32R,	Werner syndrome, Autosomal recessive	YES	4	1513	5	0	0	5	0.00164962	0.9915	0.7	139162	not_provided|Werner_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.704	P	0.277	B	0.023	N	0.992	N	1.995	M	0.59	T	-0.904	T	0.152	T	0.178	3.367	17.35	3.68	0.854	5.763	9.727	0.105	0.0156390117289	0.0030	0.00119808	0.0037	0.0010	0.0016	0	0.0006	0.0060	0	0.0009	0.0006727	104	154602	rs34477820	0.0039	0.0040	0.0039	0.0040	0.0048	0.0039	0.0038	0.0047	0.0046	0.0007	0.0018	0.0003	5.048e-05	0.0013	0.0012	0.0048	0.0031	0.0009	0.0030	0.0030	0.0035	0.0025	0.0054	0.0028	0.0027	0.0050	0.0048	0.0008	0	0.0027	0.0009	0	0.0005	0.0068	0.0054	0.0019	0.0002	0.017	0.51248	D	0.02	0.58613	D	0.704	0.41950	P	0.277	0.40197	B	0.023392	0.26452	N	0.299988	0.991981	0.23953	N	2.36	0.67893	M	0.59	0.53943	T	-1.58	0.38151	N	0.208	0.23125	-0.9045	0.47504	T	0.152	0.48032	T	10	0.0048146844	0.00102	T	0.015639	0.36485	T	0.105	0.29889	.	.	0.749798479323	0.74753	0.5153133627811298	0.51454	0.27939505312	0.30432	0.373518764973	0.21335	T	0.296694	0.66932	T	-0.439409	0.01304	T	-0.401484	0.33211	T	0.0308317523910558	0.02119	T	0.693931	0.30359	T	0.10012978	0.23639	0.1253447	0.30204	0.10012978	0.23639	0.1253447	0.30203	-4.32	0.28457	T	.	.	0.086	0.10642	B	.	.	4.401468	0.68008	25.2	0.99827197569984416	0.90939	0.98093	0.79538	D	AEFBI	0.390853	0.46952	N	0.155038185658775	0.49051	3.109867	0.149972573789508	0.47139	2.948793	0.999651471211587	0.41424	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.87	3.68	0.41359	5.788000	0.68670	7.800000	0.69123	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.8395:0.0:0.0:0.1605	9.727	0.39508	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1268.98	34	chr8	31058542	.	A	G	1268.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.000e-03;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=0.750;SOR=0.629	GT:AD:DP:GQ:PL	0/1:36,54:90:99:1283,0,749	20	0	1	0
chr8	67105905	67105905	T	G	exonic	CSPP1	.	nonsynonymous SNV	CSPP1:NM_001291339:exon6:c.T168G:p.S56R	Joubert syndrome 21, Autosomal recessive	.	430	1091	1	0	0	1	0.000458085	0.0001	0.152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.972	D	0.563	P	0.006	N	1.000	N	0.69	N	1.54	T	-0.796	T	0.214	T	0.191	2.665	14.87	-2.79	-0.240	-0.074	1.212	0.069	0.0273802146661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.917	0.39799	T	0.942	0.57405	P	0.563	0.49647	P	0.006314	0.32122	N	0.272597	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.69	0.20145	N	0.321	0.36148	-0.7964	0.55356	T	0.214	0.57468	T	9	0.15428585	0.29105	T	0.02738	0.50196	D	0.069	0.20116	.	.	0.394384168047	0.39052	0.09017730564918405	0.08950	0.140679475827	0.15870	0.39053183794	0.23745	T	.	.	.	-0.0992519	0.36549	T	-0.380345	0.35682	T	0.321059554815292	0.25865	T	0.70353	0.31362	T	.	.	.	.	.	.	.	.	-3.864	0.21764	T	.	.	0.269	0.50352	B	.;.	.;.	0.841514	0.12131	8.683	0.9817436409206044	0.38890	0.02804	0.07527	N	AEFBI	0.052678	0.09426	N	-0.835364276564482	0.12413	0.6049091	-0.962412582701977	0.10636	0.5369504	0.744447307038152	0.23263	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.59	-2.79	0.05494	-0.045000	0.11957	.	.	-0.191000	0.09375	0.085000	0.22462	0.000000	0.08366	0.031000	0.13245	0.1416:0.2187:0.1455:0.4942	1.212	0.01792	429	0.80881	.;.	.	.	.	.	.	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	773.98	34	chr8	67105905	.	T	G	773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.335e+00;DP=769;ExcessHet=0.0000;FS=1.905;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=1.20;SOR=0.463	GT:AD:DP:GQ:PL	0/1:41,37:78:99:788,0,992	20	0	1	0
chr8	73552155	73552155	T	C	exonic	STAU2	.	nonsynonymous SNV	STAU2:NM_001164383:exon8:c.A871G:p.T291A	.	.	.	.	.	.	.	.	.	.	.	2217453	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.004	B	0.005	B	0.000	D	1.000	D	0.695	N	0.53	T	-1.080	T	0.081	T	0.17	0.673	7.603	3.41	0.856	1.163	4.952	0.095	0.00662923856107	0.0002	.	5.769e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs145795257	5.336e-05	5.336e-05	5.99e-05	4.676e-05	0.0002	4.344e-05	4.018e-05	5.248e-05	4.823e-05	0	0	3.827e-05	2.52e-05	0	0.0002	6.476e-05	3.312e-05	1.159e-05	4.6e-05	4.596e-05	5.138e-05	4.035e-05	0.0001	2.109e-05	1.527e-05	4.766e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.393	0.16574	T	0.695	0.28120	T	0.001	0.07471	B	0.001	0.04355	B	0.000001	0.62929	D	0.098617	0.989469	0.42444	D	0.895	0.22405	L	0.53	0.55090	T	-0.85	0.41809	N	0.293	0.37093	-1.0796	0.07426	T	0.081	0.31913	T	10	0.080525994	0.13080	T	0.006629	0.17501	T	0.095	0.27398	.	.	0.0675242888579	0.06100	0.40939452534728277	0.40855	0.25520024391	0.28107	0.425389230251	0.28578	T	0.008045	0.14853	T	-0.341115	0.05311	T	-0.468085	0.25723	T	0.0289996426475553	0.01838	T	0.487251	0.28590	T	0.047288023	0.08058	0.05570383	0.09822	0.047288023	0.08058	0.05570383	0.09821	-2.6	0.10010	T	.	.	0.063	0.02370	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.898157	0.24109	16.27	0.90007651411578504	0.19298	0.76502	0.37525	D	AEFDGIJ	0.148356	0.27222	N	-0.409414175954376	0.25137	1.362413	-0.24361333460125	0.29992	1.68489	0.999998035121315	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	4.6	3.41	0.38145	1.154000	0.31299	1.085000	0.23927	0.665000	0.62972	0.971000	0.34370	0.987000	0.30940	1.000000	0.97212	0.0:0.1561:0.1612:0.6827	4.952	0.13370	804	0.43891	Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, 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	834.98	38	chr8	73552155	.	T	C	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.442;DP=746;ExcessHet=0.0000;FS=3.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=0.647;SOR=0.317	GT:AD:DP:GQ:PL	0/1:27,32:59:99:849,0,721	20	0	1	0
chr8	97930977	97930977	C	T	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon3:c.C167T:p.A56V	.	.	431	1005	81	5	0	91	0.0433127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.754	P	0.311	B	0.006	N	1.000	D	0.57	N	-1.14	T	-0.761	T	0.161	T	0.191	2.979	15.93	4.76	2.673	3.983	5.367	0.228	.	0.0024	0.00379393	0.0051	0.0007	0.0047	0	0.0011	0.0045	0.0214	0.0167	0.0044113	682	154602	rs138635803	0.0033	0.0033	0.0028	0.0038	0.0368	0.0032	0.0032	0.0328	0.0312	0.0008	0.0049	0.0187	2.522e-05	0.0008	0.0368	0.0020	0.0056	0.0157	0.0028	0.0028	0.0025	0.0031	0.0126	0.0026	0.0025	0.0101	0.0092	0.0003	0	0.0052	0.0213	0.0002	9.418e-05	0.0340	0.0025	0.0080	0.0126	0.256	0.17126	T	0.477	0.12704	T	0.363	0.37483	B	0.311	0.41430	B	0.006445	0.32025	N	0.220361	0.859202	0.81001	D	0.695	0.17993	N	-1.14	0.77843	T	1.46	0.00775	N	0.165	0.27197	-0.7608	0.57362	T	0.161	0.49681	T	10	0.01770696	0.00380	T	.	.	.	0.228	0.52768	.	.	0.836741868336	0.83518	0.530535038014803	0.52977	0.192949307211	0.21626	0.479947000742	0.36049	T	0.015811	0.13192	T	-0.398691	0.02362	T	-0.333144	0.41118	T	0.0253921043202583	0.01324	T	0.845515	0.52437	T	0.065625004	0.14045	0.07151575	0.15323	0.065625004	0.14044	0.07151575	0.15323	-1.29	0.01734	T	.	.	0.13	0.28377	B	.;.;.;.	.;.;.;.	2.482416	0.32012	18.91	0.9952394340556775	0.69407	0.61361	0.31462	D	AEFDBI	0.115443	0.22698	N	0.102348143987851	0.46573	2.895542	0.257965852461295	0.53105	3.481049	0.999999994929606	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.64	4.76	0.60189	4.001000	0.56758	3.327000	0.37595	0.545000	0.25583	1.000000	0.71638	0.998000	0.33993	0.996000	0.76049	0.0:0.729:0.0:0.271	5.367	0.15419	853	0.34956	.;von Willebrand factor, type A;.;von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1381.11	41	chr8	97930977	.	C	T	1381.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.730e-01;DP=803;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=-4.890e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/1:39,38:77:99:977,0,1029	19	0	2	0
chr8	103420402	103420402	A	G	exonic	DCAF13	.	nonsynonymous SNV	DCAF13:NM_015420:exon2:c.A209G:p.N70S,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.064	B	0.038	B	0.000	D	0.999	D	-0.76	N	5.06	T	-1.087	T	0.071	T	0.104	1.633	11.42	4.09	0.833	4.850	11.148	0.045	0.0177484670439	0.0015	0.000199681	0.0014	0.0004	0.0005	0.0001	0.0008	0.0022	0.0011	0.0002	0.001423	220	154602	rs13272825	0.0017	0.0017	0.0018	0.0017	0.0021	0.0017	0.0016	0.0020	0.0020	0.0004	0.0005	0.0002	0.0002	0.0006	0.0012	0.0021	0.0017	0.0004	0.0010	0.0010	0.0011	0.0009	0.0017	0.0009	0.0008	0.0015	0.0014	0.0006	0	0.0003	0.0003	0	9.425e-05	0	0.0017	0.0014	0	0.503	0.07670	T	0.481	0.14075	T	0.064	0.23455	B	0.038	0.23361	B	0.000000	0.84330	D	0.090221	0.999311	0.46639	D	-1.03	0.01126	N	0.19	0.60236	T	0.04	0.06488	N	0.275	0.32370	-1.0872	0.06013	T	0.071	0.29066	T	10	0.01860571	0.00406	T	0.017748	0.39570	T	0.045	0.12272	.	.	0.529561333529	0.52604	0.4257326183448963	0.42490	0.0967568649598	0.10922	0.560001075268	0.47268	T	0.003746	0.03958	T	-0.49593	0.00603	T	-0.491621	0.23221	T	0.0212475976220162	0.00826	T	0.872513	0.71541	D	0.29449278	0.52406	0.23502992	0.48736	0.29449278	0.52406	0.23502992	0.48735	-4.587	0.36425	T	.	.	0.067	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	1.486098	0.19121	14.10	0.94931024665374897	0.25816	0.94541	0.61500	D	AEFBI	0.573374	0.57658	D	-0.399219737703088	0.25497	1.384503	-0.159701770009637	0.33036	1.885619	0.99999607333064	0.74766	0.744818	0.98587	0	0.662677	0.63036	0	0.743671	0.96076	0	0.76194	0.99817	0	.	.	5.26	4.09	0.47038	4.840000	0.62513	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9272:0.0:0.0728:0.0	11.148	0.47667	339	0.86048	WD40-repeat-containing domain;WD40-repeat-containing domain;.;.;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1334.98	33	chr8	103420402	.	A	G	1334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=958;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=1.26;SOR=0.828	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1349,0,1354	20	0	1	0
chr8	120548788	120548788	G	A	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon5:c.C1307T:p.A436V,	.	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.887	P	0.541	P	0.000	D	1.000	D	1.27	L	-1.98	D	-0.268	T	0.428	T	0.862	4.443	23.7	5.68	2.674	9.869	19.800	0.544	0.0678769026873	0.0062	0.000998403	0.0051	0.0014	0.0048	0	0.0003	0.0073	0.0044	0.0035	0.005705	882	154602	rs61762674	0.0087	0.0087	0.0089	0.0085	0.0105	0.0086	0.0085	0.0104	0.0103	0.0012	0.0040	0.0003	0	0.0013	0.0036	0.0105	0.0069	0.0033	0.0050	0.0050	0.0052	0.0047	0.0089	0.0047	0.0046	0.0083	0.0081	0.0018	0	0.0029	0.0003	0	0.0009	0.0034	0.0089	0.0052	0.0017	0.151	0.24564	T	0.332	0.18449	T	0.887	0.48784	P	0.541	0.48869	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.09	0.57893	M	-1.98	0.85247	D	-3.05	0.62976	D	0.912	0.91391	-0.2678	0.75871	T	0.428	0.77055	T	10	0.052652776	0.05332	T	0.067877	0.70290	D	0.544	0.81018	.	.	0.775274093175	0.77321	0.6525711085955409	0.65193	.	.	0.479424625635	0.35977	T	0.446651	0.78922	T	0.0103242	0.53070	T	0.25373	0.85793	D	0.0413831671940031	0.03942	T	0.89781	0.64256	D	0.29604852	0.52548	0.29344627	0.55373	0.29604852	0.52548	0.29344627	0.55372	-7.658	0.58715	D	.	.	0.363	0.57405	A	.;.	.;.	4.730905	0.76202	26.5	0.99333251194066097	0.59856	0.99422	0.95828	D	AEFGBI	0.929128	0.91441	D	0.244254377398568	0.53356	3.504763	0.261916397613154	0.53330	3.50251	0.999999999992855	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.68	5.68	0.88021	10.003000	0.99689	9.897000	0.82319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.502000	0.29062	0.0:0.0:1.0:0.0	19.800	0.96501	687	0.59234	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2062.98	33	chr8	120548788	.	G	A	2062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.200e-01;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.66;ReadPosRankSum=-4.100e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/1:68,83:151:99:2077,0,1676	20	0	1	0
chr8	124565686	124565686	A	G	exonic	MTSS1	.	nonsynonymous SNV	MTSS1:NM_001282974:exon9:c.T800C:p.M267T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.974	D	0.643	P	0.000	D	1.000	D	1.61	L	1.57	T	-1.000	T	0.132	T	0.806	2.752	15.16	5.2	2.102	5.560	15.376	0.151	0.0109698175887	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs913749061	9.577e-06	9.577e-06	9.529e-06	9.626e-06	1.169e-05	5.56e-06	4.35e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	1.656e-05	0	6.57e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.457	0.10588	T	0.787	0.17696	T	0.458	0.57829	P	0.137	0.52216	B	0.000000	0.84330	D	0.049187	1	0.81001	D	1.975	0.53506	M	1.55	0.42888	T	-1.47	0.41809	N	0.478	0.52029	-0.9999	0.29945	T	0.132	0.44307	T	10	0.19711292	0.35630	T	0.01097	0.28104	T	0.151	0.39764	0.18	0.08751	0.409859612472	0.40601	0.49194119063207203	0.49115	1.00756453028	0.74644	0.779864788055	0.78907	T	0.356903	0.72369	T	0.0767426	0.61657	D	-0.127541	0.61179	T	0.628982603549957	0.37576	D	0.849315	0.64861	T	0.342657	0.56490	0.23602745	0.48863	0.342657	0.56490	0.23602745	0.48862	-7.158	0.64030	T	.	.	0.241	0.55896	B	.;.;.;.;.;.	.;.;.;.;.;.	4.644170	0.73970	26.1	0.98242524392341968	0.39494	0.97493	0.75105	D	AEFDGBI	0.769966	0.70505	D	0.19089959364987	0.50763	3.263206	0.295209892778343	0.55258	3.689123	0.999999980137467	0.74766	0.730579	0.87903	0	0.547309	0.14657	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.2	5.2	0.71720	4.840000	0.62513	11.059000	0.85411	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.376	0.74324	904	0.23766	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1049.98	36	chr8	124565686	.	A	G	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.748e+00;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-5.200e-01;SOR=0.664	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1064,0,1332	20	0	1	0
chr8	125009277	125009277	A	G	exonic	SQLE	.	nonsynonymous SNV	SQLE:NM_003129:exon6:c.A1042G:p.I348V,	.	.	440	1061	18	3	0	24	0.0111836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.018	B	0.035	B	0.003	N	0.748	D	0.555	N	.	.	-1.023	T	0.080	T	0.118	0.944	8.847	-4.43	-1.574	1.579	14.105	0.113	.	0.0016	0.00259585	0.0034	0.0001	0.0010	0	0	0.0023	0.0056	0.0144	0.0030853	477	154602	rs199608260	0.0030	0.0030	0.0026	0.0034	0.0139	0.0029	0.0029	0.0133	0.0130	0.0003	0.0009	0.0061	5.04e-05	0.0001	0.0029	0.0025	0.0027	0.0139	0.0017	0.0017	0.0016	0.0019	0.0118	0.0016	0.0015	0.0094	0.0085	0.0002	0	0.0008	0.0055	0	0.0003	0	0.0023	0.0014	0.0118	0.505	0.09687	T	0.827	0.05398	T	0.018	0.17786	B	0.035	0.22741	B	0.002665	0.36137	N	0.347488	0.748238	0.33899	D	0.705	0.18577	N	.	.	.	0.02	0.06739	N	0.102	0.08646	-1.0232	0.22671	T	0.080	0.31556	T	9	0.007342428	0.00167	T	.	.	.	0.113	0.31778	.	.	0.102598925029	0.09809	0.40313914311060073	0.40229	0.21350864514	0.23864	0.233839139342	0.02264	T	0.006144	0.69673	T	-0.560457	0.00252	T	-0.566157	0.15804	T	0.00998537056148052	0.00133	T	0.593441	0.21993	T	0.023919482	0.01174	0.037572183	0.03437	0.023919482	0.01174	0.037572183	0.03437	-4.99	0.36731	T	.	.	0.069	0.03197	B	.;.	.;.	0.261024	0.06395	2.862	0.68150669314228796	0.08570	0.62796	0.31890	D	AEFDGBIJ	0.208641	0.33470	N	-1.28288398061806	0.03881	0.174194	-1.23662953224712	0.05332	0.2538001	0.999998411878671	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	-4.43	0.03319	1.577000	0.36124	-0.227000	0.10711	-0.742000	0.03659	0.735000	0.28974	0.000000	0.08366	0.914000	0.44937	0.5864:0.0:0.4136:0.0	14.105	0.64608	923	0.18507	Squalene epoxidase;Squalene epoxidase	.	.	.	.	.	Likely benign	0	0	0	0	0	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	883.11	35	chr8	125009277	.	A	G	883.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.523;DP=790;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.83;ReadPosRankSum=0.605;SOR=0.651	GT:AD:DP:GQ:PL	0/1:22,20:42:99:438,0,485	19	0	2	0
chr8	143429787	143429789	TGG	-	exonic	MAFA	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.618_620del:p.H208del,	.	.	264	254	1	13	990	1017	0.0504673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	51136.5	54	chr8	143429783	.	ATGGTGG	ATGG,A	51136.5	.	AC=38,4;AF=0.905,0.095;AN=42;BaseQRankSum=1.21;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=38,4;MLEAF=0.905,0.095;MQ=60.00;MQRankSum=0.00;QD=34.47;ReadPosRankSum=0.693;SOR=0.738	GT:AD:DP:GQ:PL	1/1:0,51,0:51:99:2241,154,0,2241,154,2241	0	17	0	0
chr8	143720714	143720714	C	T	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon9:c.C791T:p.T264M,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.968	D	0.827	P	0.003	N	1.000	N	1.57	L	0.92	T	-1.019	T	0.064	T	0.115	1.114	9.544	-0.642	-0.408	2.049	1.510	0.093	.	0.0004	0.00579073	0.0057	0.0004	0.0424	0.0142	0.0103	0.0009	0.0016	0.0009	0.0041138	636	154602	rs146609910	0.0017	0.0017	0.0019	0.0016	0.0250	0.0016	0.0016	0.0238	0.0233	0.0005	0.0250	0.0004	0.0160	0.0066	0.0012	0.0002	0.0012	0.0003	0.0024	0.0024	0.0021	0.0026	0.0131	0.0022	0.0021	0.0106	0.0097	0.0006	0	0.0094	0.0006	0.0131	0.0085	0	0.0004	0.0005	0	0.232	0.18184	T	0.252	0.23570	T	0.968	0.56581	D	0.827	0.59428	P	0.003222	0.35241	N	0.273852	1	0.08975	N	1.645	0.42016	L	0.92	0.44461	T	-3.04	0.62863	D	0.267	0.30233	-1.0188	0.24106	T	0.064	0.26385	T	10	0.006958276	0.00158	T	.	.	.	0.093	0.26882	.	.	0.630531396591	0.62751	0.4058061931261441	0.40496	0.146378424685	0.16520	0.515318334103	0.40968	T	0.09621	0.39779	T	-0.609485	0.00128	T	-0.627988	0.10568	T	0.0446910830741326	0.04546	T	.	.	.	0.033374816	0.03544	0.05719384	0.10352	0.033374816	0.03543	0.05719384	0.10352	-9.074	0.68172	D	.	.	0.093	0.14201	B	.	.	2.404202	0.30891	18.58	0.99378876076603795	0.61803	0.60511	0.31216	D	AEFDGBCI	0.106464	0.21241	N	-0.387458348644193	0.25914	1.410391	-0.586124975877535	0.19854	1.067125	0.999989639172983	0.51787	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	3.77	-0.642	0.10909	0.909000	0.28180	.	.	-0.960000	0.01985	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.1688:0.469:0.1645:0.1977	1.510	0.02344	895	0.25842	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1811.98	33	chr8	143720714	.	C	T	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=911;ExcessHet=0.0000;FS=0.632;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=0.647;SOR=0.663	GT:AD:DP:GQ:PL	0/1:64,73:137:99:1826,0,1329	20	0	1	0
chr8	143918969	143918969	T	C	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.A10810G:p.M3604V	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	.	.	.	.	.	.	.	.	.	.	636664	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia	MedGen:C3661900|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.001	B	0.004	B	0.000	U	1.000	D	0.895	L	-1.23	T	-0.737	T	0.266	T	0.396	0.784	8.136	3.18	0.700	5.989	9.694	0.268	0.110025468239	7.7e-05	0.000199681	7.555e-05	0.0004	0	0.0004	0	1.527e-05	0	6.06e-05	6.47e-05	10	154602	rs376442504	1.92e-05	2.052e-05	1.092e-05	2.756e-05	0.0002	1.331e-05	1.146e-05	9.928e-05	7.224e-05	0.0001	0.0001	0	0.0002	0	0	5.396e-06	3.313e-05	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.572e-05	6.278e-05	0.0002	0.0002	0.0004	0	0.0001	0	0	0	0	0	0	0	0.04	0.42487	D	0.022	0.59732	D	0.001	0.07471	B	0.004	0.10090	B	0.000000	0.84330	U	0.000000	0.999867	0.50061	D	0.89	0.21648	L	-1.24	0.79277	T	-1.48	0.36586	N	0.375	0.49237	-0.7372	0.58596	T	0.266	0.63695	T	10	0.14361328	0.27263	T	0.110025	0.78724	D	0.268	0.58254	.	.	0.707087877747	0.70453	0.748091437906144	0.74755	.	.	0.77140390873	0.77635	T	0.097761	0.40091	T	-0.208309	0.19617	T	-0.206997	0.53981	T	0.021950599449496	0.00903	T	0.884911	0.60954	D	0.2510183	0.48107	0.3246395	0.58386	0.2510183	0.48107	0.3246395	0.58385	-4.006	0.23893	T	0.5682943679152643	0.63561	0.671	0.71783	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.887086	0.23966	16.22	0.85837446686517049	0.16144	0.94726	0.62119	D	AEFDGBCI	0.733909	0.68020	D	-0.267258554041449	0.30420	1.696059	-0.138061801779062	0.33871	1.942141	0.999999413052442	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.35	3.18	0.35615	4.967000	0.63433	.	.	-0.120000	0.14102	1.000000	0.71638	0.998000	0.33993	0.005000	0.06747	0.0:0.0848:0.0:0.9152	9.694	0.39313	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	6846.98	221	chr8	143918969	.	T	C	6846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.010e+00;DP=4065;ExcessHet=0.0000;FS=1.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=0.975;SOR=0.698	GT:AD:DP:GQ:PL	0/1:321,292:613:99:6861,0,8242	20	0	1	0
chr8	143924276	143924276	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G5611A:p.A1871T	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	.	2	1514	6	0	0	6	0.00197759	.	.	266524	not_specified|not_provided|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.24	T	1.0	D	0.997	D	0.009	U	0.949	D	1.39	L	-2.87	D	0.350	D	0.625	D	0.439	2.508	14.35	4.04	2.101	0.987	15.989	0.280	.	8e-05	0.00878594	0.0044	0.0001	0.0081	0.0308	0.0085	0.0010	0.0041	0.0014	0.0035122	543	154602	rs201070741	0.0020	0.0020	0.0020	0.0020	0.0429	0.0019	0.0019	0.0412	0.0405	0.0002	0.0062	0.0004	0.0429	0.0064	0.0007	0.0003	0.0025	0.0018	0.0026	0.0026	0.0023	0.0029	0.0374	0.0024	0.0023	0.0331	0.0314	0.0002	0	0.0022	0.0006	0.0374	0.0093	0	0.0006	0.0009	0.0037	0.081	0.37118	T	0.111	0.40110	T	1.0	0.90584	D	0.997	0.86255	D	0.009276	0.30438	U	0.190729	0.948955	0.37631	D	1.265	0.31966	L	-2.87	0.91478	D	-1.14	0.29727	N	0.551	0.58713	0.350	0.88331	D	0.625	0.86821	D	10	0.0057498217	0.00128	T	.	.	.	0.280	0.59740	.	.	0.764658292166	0.76251	0.4453153047724098	0.44449	.	.	0.514962077141	0.40918	T	0.099441	0.40426	T	-0.262414	0.12619	T	-0.127404	0.61189	T	0.0134982564548392	0.00247	T	0.961704	0.85587	D	0.05939172	0.12065	0.1413768	0.33669	0.06742676	0.14600	0.12342586	0.29761	-6.068	0.47809	T	0.15679323834645156	0.18889	0.082	0.09433	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.518538	0.32539	19.07	0.98784902344472714	0.46190	0.37148	0.25696	N	AEFDBCI	0.224221	0.34847	N	0.0441907962732565	0.43876	2.672049	-0.0912094851581915	0.35752	2.072	0.999999967902569	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.04	4.04	0.46262	1.095000	0.30575	.	.	0.584000	0.30380	0.344000	0.25709	0.998000	0.33993	0.419000	0.27206	0.0:1.0:0.0:0.0	15.989	0.79977	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3908.11	95	chr8	143924276	.	C	T	3908.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.701;DP=1464;ExcessHet=0.1072;FS=1.295;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=0.743;SOR=0.792	GT:AD:DP:GQ:PL	0/1:84,90:174:99:2217,0,1887	19	0	2	0
chr8	144317564	144317564	C	T	exonic	DGAT1	.	nonsynonymous SNV	DGAT1:NM_012079:exon12:c.G961A:p.E321K,	.	.	412	1107	3	0	0	3	0.00135318	.	.	1496977	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.97	D	0.000	D	1.000	D	2.965	M	-0.72	T	0.331	D	0.587	D	0.949	4.783	26.9	5.27	2.475	6.520	16.376	0.829	0.279053805273	.	.	0.0002	0	0.0015	0	0	1.501e-05	0.0022	0	0.0001294	20	154602	rs782473207	3.421e-05	3.42e-05	3.268e-05	3.576e-05	0.0010	2.632e-05	2.375e-05	0.0008	0.0007	0	0.0010	0	0	0	0.0002	1.799e-06	4.968e-05	0	1.315e-05	1.314e-05	2.57e-05	0	0.0001	2.19e-06	8.2e-07	2.264e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	0.005	0.72224	D	0.999	0.77913	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.345	0.91022	M	.	.	.	.	.	.	0.888	0.88687	0.331	0.88037	D	0.587	0.85176	D	10	0.7060068	0.72742	D	0.279054	0.90164	D	.	.	0.674	0.81200	0.576245406411	0.57293	0.828360222609323	0.82794	.	.	0.717919409275	0.69744	T	0.634444	0.88712	D	0.17101	0.71217	D	0.409489	0.92415	D	0.662914395332336	0.39024	D	.	.	.	0.55302376	0.70124	0.34580886	0.60258	0.5980379	0.72587	0.37414548	0.62586	-12.216	0.85887	D	.	.	0.986	0.92555	P	.	.	5.291676	0.88845	29.8	0.99930530220529057	0.99334	0.99307	0.94267	D	AEFDGBHCI	0.803446	0.72858	D	0.774207482580139	0.84469	8.296566	0.690832719841779	0.81681	7.584188	0.999999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.27	5.27	0.73797	4.165000	0.57984	7.390000	0.58507	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	16.376	0.83226	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	2332.98	38	chr8	144317564	.	C	T	2332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=929;ExcessHet=0.0000;FS=11.105;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.404;SOR=0.681	GT:AD:DP:GQ:PL	0/1:89,93:182:99:2347,0,2046	20	0	1	0
chr8	144807638	144807638	C	G	exonic	ZNF517	.	nonsynonymous SNV	ZNF517:NM_001317936:exon5:c.C701G:p.A234G	.	.	429	1069	24	0	0	24	0.0111008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.026	B	0.026	B	.	.	1.000	N	-0.55	N	2.13	T	-1.029	T	0.034	T	0.157	2.998	16.00	2.7	1.508	-0.651	8.639	0.033	0.00084795732836	0.0003	0.000399361	0.0017	0	0.0006	0.0002	0.0003	0.0005	0.0059	0.0085	0.0010996	170	154602	rs145328614	0.0008	0.0008	0.0005	0.0011	0.0087	0.0008	0.0008	0.0076	0.0074	8.975e-05	0.0002	0.0015	2.524e-05	5.889e-05	0.0087	0.0003	0.0010	0.0081	0.0005	0.0005	0.0004	0.0007	0.0075	0.0004	0.0004	0.0055	0.0049	2.406e-05	0	0.0001	0.0006	0	9.418e-05	0.0068	0.0005	0.0005	0.0075	0.093	0.31532	T	0.035	0.52389	D	0.026	0.19406	B	0.026	0.20792	B	.	.	.	.	1	0.81001	D	-0.44	0.02835	N	2.13	0.19588	T	-2.48	0.54059	N	0.083	0.08088	-1.0289	0.20811	T	0.034	0.14552	T	9	0.005225897	0.00114	T	8.48E-4	0.00734	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.02932518378202898	0.02881	0.278568782868	0.30341	0.395311534405	0.24415	T	0.020404	0.16069	T	-0.57809	0.00198	T	-0.598737	0.12917	T	0.0217084522860914	0.00877	T	0.320768	0.06490	T	0.15683421	0.35371	0.16436942	0.38081	0.15683421	0.35371	0.16436942	0.38080	-5.478	0.41662	T	.	.	0.138	0.30211	B	.;.	.;.	2.431960	0.31291	18.70	0.99483157296345304	0.67014	0.01006	0.03801	N	AEFDBI	0.030302	0.03023	N	-0.464442923937653	0.23253	1.247385	-0.44975781783289	0.23556	1.285203	0.887889848489239	0.25776	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	2.7	2.7	0.31007	-0.193000	0.09572	-1.722000	0.04847	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.884000	0.42379	0.0:0.5886:0.4114:0.0	8.639	0.33126	680	0.59965	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1517.98	33	chr8	144807638	.	C	G	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=928;ExcessHet=0.0000;FS=2.172;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=-4.600e-02;SOR=0.906	GT:AD:DP:GQ:PL	0/1:76,60:136:99:1532,0,1993	20	0	1	0
chr8	144932518	144932518	G	T	exonic	ZNF16	.	nonsynonymous SNV	ZNF16:NM_006958:exon3:c.C269A:p.A90E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.002	B	.	.	1.000	N	0	N	4.77	T	-1.007	T	0.039	T	0.277	-1.340	0.030	-2.5	-0.154	-0.524	0.105	0.133	0.00125334710863	.	.	9.081e-05	0	0	0.0003	0	0.0001	0	6.07e-05	7.76e-05	12	154602	rs767098172	5.472e-05	5.472e-05	5.445e-05	5.5e-05	0.0002	4.477e-05	4.147e-05	0.0001	8.775e-05	0	0	0	0.0002	0	0.0002	5.665e-05	1.656e-05	6.956e-05	5.256e-05	5.253e-05	5.138e-05	5.38e-05	0.0004	2.557e-05	1.83e-05	7.299e-05	3.032e-05	0	0	6.544e-05	0	0	0	0	7.349e-05	0	0.0004	1.0	0.27544	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.16	0.50459	T	0.09	0.56945	N	0.126	0.12484	-1.0069	0.27881	T	0.039	0.16634	T	9	0.026155263	0.00789	T	0.001253	0.01683	T	0.133	0.36157	0.33	0.31519	0.0986583533028	0.09354	0.03691962009681974	0.03638	0.0848295226273	0.09583	0.258186757565	0.04677	T	0.001365	0.00832	T	-0.413686	0.01879	T	-0.539859	0.18310	T	0.0135514783243321	0.00249	T	0.128287	0.13351	T	0.0744182	0.16699	0.08126513	0.18454	0.0744182	0.16699	0.08126513	0.18454	-2.231	0.04194	T	.	.	0.088	0.30555	B	.;.;.;.;.	.;.;.;.;.	-0.068594	0.03831	0.821	0.20694797771256412	0.00755	0.03939	0.09336	N	AEFDGBI	0.041532	0.06327	N	-1.28325630360223	0.03876	0.1739792	-1.27299471794795	0.04799	0.2272319	0.343129968308414	0.19604	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.24	-2.5	0.06015	-0.965000	0.03939	-0.051000	0.12545	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.528000	0.29660	0.2704:0.2438:0.2215:0.2643	0.105	0.00047	774	0.48577	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1247.98	42	chr8	144932518	.	G	T	1247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.431e+00;DP=868;ExcessHet=0.0000;FS=4.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.82;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-1.490e-01;SOR=0.666	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1262,0,1258	20	0	1	0
chr9	12821696	12821696	T	C	exonic	LURAP1L	.	nonsynonymous SNV	LURAP1L:NM_203403:exon2:c.T623C:p.I208T,	.	.	429	1067	26	0	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.0	B	0.002	B	0.573	N	1.000	N	0.695	N	0.84	T	-1.035	T	0.050	T	0.058	0.923	8.760	4.45	0.956	1.783	6.187	0.074	.	0.0065	0.00658946	0.0067	0.0021	0.0056	0	0.0038	0.0081	0.0088	0.0096	0.0067011	1036	154602	rs61755264	0.0083	0.0083	0.0082	0.0085	0.0137	0.0082	0.0081	0.0113	0.0104	0.0012	0.0057	0.0159	2.519e-05	0.0040	0.0137	0.0089	0.0077	0.0092	0.0052	0.0052	0.0053	0.0050	0.0078	0.0049	0.0047	0.0072	0.0070	0.0015	0	0.0054	0.0127	0	0.0017	0.0068	0.0078	0.0099	0.0058	0.067	0.35918	T	0.253	0.23501	T	.	.	.	.	.	.	0.572551	0.05488	N	1.264020	1	0.08975	N	.	.	.	0.84	0.47477	T	0.16	0.05217	N	0.093	0.07262	-1.0354	0.18731	T	0.050	0.21182	T	10	0.005319059	0.00117	T	.	.	.	0.074	0.21613	.	.	0.3085936734	0.30458	0.07636395279697009	0.07572	0.0354923742789	0.03747	0.362109303474	0.19693	T	.	.	.	-0.629934	0.00096	T	-0.670526	0.07575	T	0.00269191200996451	0.00028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.	.	0.878504	0.12517	9.046	0.93405647518646784	0.23166	0.14882	0.18634	N	AEFDBI	0.196794	0.32375	N	-0.566462906350943	0.19970	1.049335	-0.465356978719384	0.23114	1.258878	0.999961960060817	0.48965	0.533608	0.22052	0	0.573888	0.26702	0	0.618467	0.43123	0	0.638833	0.57524	0	.	.	5.59	4.45	0.53365	1.991000	0.40348	0.178000	0.15598	-0.115000	0.14600	0.345000	0.25717	0.208000	0.23622	0.818000	0.38543	0.0:0.1423:0.1354:0.7223	6.187	0.19718	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	6166.11	34	chr9	12821696	.	T	C	6166.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.78;DP=1186;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=1.75;SOR=0.751	GT:AD:DP:GQ:PL	0/1:123,120:243:99:3142,0,3157	19	0	2	0
chr9	14819330	14819330	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon14:c.G2450A:p.R817Q	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	901649	Oculotrichoanal_syndrome|Trigonocephaly_2|BNAR_syndrome|not_provided	MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MONDO:MONDO:0013774,MedGen:C3280974,OMIM:614485,Orphanet:3366|MONDO:MONDO:0012165,MedGen:C2750433,OMIM:608980,Orphanet:217266|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.63	T	0.002	B	0.001	B	0.002	N	0.999	N	-1.725	N	1.86	T	-0.987	T	0.013	T	0.057	-0.446	1.930	3.52	0.475	1.565	3.245	0.065	0.00688707000834	0.0002	0.000199681	0.0002	0	0.0005	0	0	0.0003	0.0011	0	0.0001811	28	154602	rs200495440	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	0	0.0004	0.0047	5.039e-05	0	0	3.868e-05	0.0004	3.478e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.713e-05	5.278e-05	2.833e-05	2.406e-05	0	0.0002	0.0040	0	0	0	7.351e-05	0	0	0.95	0.02146	T	0.75	0.04807	T	0.002	0.09854	B	0.001	0.04355	B	0.002279	0.36887	N	0.334638	1	0.08975	N	-1.475	0.00530	N	1.86	0.24285	T	0.56	0.02680	N	0.057	0.06059	-0.9868	0.33396	T	0.013	0.04890	T	10	0.0051345825	0.00111	T	0.006887	0.18233	T	0.065	0.18881	.	.	0.202086224978	0.19791	0.23678240275522044	0.23593	.	.	0.202627420425	0.00537	T	0.032119	0.22347	T	-0.601328	0.00143	T	-0.779576	0.02466	T	0.0172645698358052	0.00468	T	0.69823	0.30825	T	0.018402983	0.00361	0.027829597	0.00966	0.018402983	0.00361	0.027829597	0.00966	-5.192	0.38860	T	0.05973637893199889	0.01594	0.069	0.03231	B	.;.	.;.	0.356926	0.07298	3.906	0.48709830075915678	0.04087	0.02258	0.06533	N	AEFBI	0.046612	0.07758	N	-0.999623590294994	0.08612	0.404448	-0.820096600458647	0.14008	0.7297653	0.0379390555732823	0.14322	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.86	3.52	0.39415	1.477000	0.35039	-0.413000	0.09334	-0.190000	0.09434	0.979000	0.35152	0.000000	0.08366	0.001000	0.02609	0.1376:0.0777:0.1435:0.6412	3.245	0.06394	796	0.45353	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	892.98	33	chr9	14819330	.	C	T	892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.509;DP=780;ExcessHet=0.0000;FS=1.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=0.335;SOR=0.984	GT:AD:DP:GQ:PL	0/1:50,37:87:99:907,0,1271	20	0	1	0
chr9	15211306	15211306	C	T	exonic	TTC39B	.	nonsynonymous SNV	TTC39B:NM_001168341:exon3:c.G367A:p.G123S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.918	D	0.000	D	1.000	D	2.36	M	1.0	T	-0.586	T	0.275	T	0.563	5.222	33	5.78	2.742	7.488	19.607	0.100	0.0421623752176	7.7e-05	.	1.7e-05	9.647e-05	0	0	0	1.523e-05	0	0	1.94e-05	3	154602	rs149019264	1.745e-05	1.847e-05	1.527e-05	1.965e-05	2.091e-05	1.198e-05	1.012e-05	1.392e-05	1.163e-05	0	0	0	0	1.884e-05	0	2.091e-05	1.688e-05	0	2.628e-05	2.627e-05	3.854e-05	1.345e-05	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0	0.013	0.54683	D	0.072	0.43531	T	.	.	.	.	.	.	0.000002	0.62929	D	0.059222	1	0.81001	D	2.695	0.78878	M	1.0	0.41392	T	-0.42	0.14978	N	0.564	0.59816	-0.5860	0.65380	T	0.275	0.64629	T	10	0.44618478	0.58411	T	0.042162	0.60319	D	0.100	0.28662	.	.	0.38342384377	0.37955	0.6559990771203544	0.65535	0.303624687715	0.32687	0.587440729141	0.51133	T	0.021804	0.16921	T	-0.130186	0.31467	T	-0.238876	0.50907	T	0.502900736840678	0.32735	D	0.962104	0.85685	D	0.1812165	0.39280	0.19688584	0.43442	0.1812165	0.39280	0.19688584	0.43441	-7.651	0.58813	D	.	.	0.633	0.73041	P	.;.;.;.;.	.;.;.;.;.	5.090261	0.84994	28.5	0.99892371659028978	0.96589	0.96376	0.68836	D	AEFDGBHCI	0.908754	0.86448	D	0.659926063580848	0.77011	6.593626	0.679631119304114	0.80834	7.387928	1.0	0.98316	0.743674	0.98306	0	0.61073	0.52368	0	0.601832	0.32385	0	0.584449	0.35598	0	.	.	5.78	5.78	0.91418	7.876000	0.85623	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.665000	0.33109	0.0:1.0:0.0:0.0	19.607	0.95579	859	0.33891	.;.;.;.;.	.	.	.	.	.	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	1215.98	37	chr9	15211306	.	C	T	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=802;ExcessHet=0.0000;FS=1.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-1.756e+00;SOR=0.560	GT:AD:DP:GQ:PL	0/1:64,49:113:99:1230,0,1603	20	0	1	0
chr9	17394900	17394900	T	C	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.T2446C:p.S816P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.911	P	0.563	P	.	.	1.000	N	1.7	L	2.35	T	-1.053	T	0.050	T	0.18	1.264	10.12	0.064	0.126	-0.281	2.882	0.013	0.00857619360364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.184	0.29056	T	0.023	0.18885	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	2.09	0.20122	T	-1.05	0.27463	N	0.166	0.17553	-1.0529	0.13601	T	0.050	0.21261	T	9	0.062128216	0.07898	T	0.008576	0.22680	T	0.013	0.01715	0.124	0.03018	0.0297737177859	0.01360	0.0983252962362964	0.09763	.	.	0.307184994221	0.11482	T	.	.	.	-0.237601	0.15655	T	-0.579074	0.14628	T	0.179341226816177	0.19193	T	0.419458	0.11115	T	.	.	.	.	.	.	.	.	-4.872	0.35419	T	.	.	0.083	0.09288	B	.	.	1.111941	0.14971	11.48	0.99448444149393045	0.65122	0.14148	0.18248	N	AEFBI	0.332060	0.43159	N	-0.652069549857985	0.17401	0.8950572	-0.713489754841712	0.16625	0.8803607	0.999376316363295	0.39355	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	0.064	0.13665	-0.219000	0.09233	0.156000	0.15349	0.665000	0.62972	0.000000	0.06391	0.714000	0.26310	0.442000	0.27716	0.1976:0.0683:0.2075:0.5266	2.882	0.05302	651	0.62880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	141.71	42	chr9	17394900	.	T	C	141.71	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.459e+00;DP=1312;ExcessHet=0.3300;FS=102.575;InbreedingCoeff=-0.0775;MLEAC=3;MLEAF=0.071;MQ=59.98;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.418;SOR=9.190	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,19:97:54:.:.:54,0,1572	18	0	3	0
chr9	20414378	20414378	A	0	exonic	MLLT3	.	.	.	.	.	1	184	35	2	4	43	0.0958231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3362.48	34	chr9	20414378	.	A	G,*	3362.48	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=1.71;DP=856;ExcessHet=1.7912;FS=5.302;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.563;SOR=0.449	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,22,0:54:99:.:.:581,0,860,677,926,1603	15	0	5	0
chr9	32632666	32632666	C	A	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.G2914T:p.V972L,	.	.	1	1495	25	1	0	27	0.00894929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.774	P	0.688	P	0.000	D	0.991	D	1.5	L	2.54	T	-1.091	T	0.040	T	0.143	2.155	13.16	-0.054	0.507	3.425	4.943	0.076	0.00114923500467	0.0004	0.00159744	0.0011	0	0.0006	0	0.0002	0.0005	0.0022	0.0054	0.0009379	145	154602	rs55906071	0.0006	0.0006	0.0004	0.0008	0.0053	0.0005	0.0005	0.0049	0.0047	5.974e-05	0.0003	0.0005	0	1.872e-05	0.0012	0.0003	0.0008	0.0053	0.0005	0.0005	0.0003	0.0008	0.0068	0.0004	0.0004	0.0050	0.0044	2.406e-05	0	0.0003	0.0003	0	0	0.0034	0.0005	0.0005	0.0068	0.251	0.17069	T	0.39	0.15506	T	0.774	0.44062	P	0.688	0.53700	P	0.000065	0.52346	D	0.128609	0.991491	0.41402	D	1.39	0.34934	L	2.54	0.13916	T	-1.72	0.40850	N	0.214	0.23884	-1.0907	0.05416	T	0.040	0.17106	T	10	0.011918902	0.00258	T	0.001149	0.01434	T	0.076	0.22200	0.33	0.31519	0.434497104326	0.43071	0.5761475823034826	0.57543	0.160340197242	0.18093	0.434875428677	0.29876	T	0.024099	0.18273	T	-0.586404	0.00176	T	-0.614289	0.11639	T	0.0889325541787246	0.11090	T	0.978502	0.92407	D	0.088748306	0.20713	0.084431216	0.19421	0.088748306	0.20713	0.084431216	0.19421	-10.86	0.78884	D	.	.	0.246	0.48008	B	.	.	4.105717	0.61250	24.3	0.98614182156046493	0.43677	0.50292	0.28629	D	AEFBI	0.231861	0.35502	N	-0.0545285893600003	0.39400	2.322896	-0.160507617366261	0.33005	1.883559	0.95158353292811	0.27966	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.04	-0.0542	0.13145	3.648000	0.54150	7.452000	0.58971	0.243000	0.18268	0.996000	0.39380	1.000000	0.68203	0.913000	0.44837	0.0:0.7269:0.0:0.2731	4.943	0.13327	836	0.38045	Transcription initiation factor TFIID subunit 1, domain of unknown function	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1754.98	34	chr9	32632666	.	C	A	1754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=1178;ExcessHet=0.0000;FS=6.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-1.940e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/1:83,63:146:99:1769,0,2363	20	0	1	0
chr9	34093402	34093402	G	A	exonic	DCAF12	.	nonsynonymous SNV	DCAF12:NM_015397:exon7:c.C908T:p.A303V,	.	.	424	1081	16	1	0	18	0.00825688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.633	P	0.118	B	0.000	D	1.000	D	2.25	M	-0.27	T	-0.460	T	0.276	T	0.954	4.483	24.0	5.64	2.670	9.102	17.868	0.471	.	0.0002	0.00399361	0.0022	0	0.0008	0	0	0.0004	0.0022	0.0139	0.001934	299	154602	rs149115505	0.0010	0.0010	0.0006	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	5.974e-05	0.0002	3.826e-05	0	0	0.0019	0.0002	0.0011	0.0138	0.0006	0.0006	0.0003	0.0009	0.0133	0.0005	0.0005	0.0107	0.0097	4.811e-05	0	0.0005	0	0	0	0	0.0002	0	0.0133	0.007	0.59928	D	0.013	0.63109	D	0.633	0.40250	P	0.118	0.32088	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	-0.27	0.67367	T	-2.12	0.48184	N	0.921	0.92433	-0.4600	0.70067	T	0.276	0.64814	T	10	0.012073249	0.00261	T	.	.	.	0.471	0.76487	.	.	0.810726899296	0.80895	0.6850247409028064	0.68441	1.03043029366	0.75413	0.832992434502	0.87021	D	0.209426	0.56964	T	0.00687563	0.52599	T	0.248131	0.85529	D	0.0712406606931485	0.08824	T	0.960304	0.85063	D	0.2813473	0.51177	0.2866694	0.54676	0.2813473	0.51177	0.2866694	0.54675	-8.042	0.61356	D	.	.	0.817	0.78094	P	.	.	4.493645	0.70214	25.5	0.99857932726301568	0.93639	0.99295	0.94095	D	AEFDBI	0.909636	0.86652	D	0.533704854304489	0.69097	5.308765	0.627181203696604	0.76920	6.580939	0.999999999946936	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	9.225000	0.94383	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.868	0.88717	401	0.82673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	885.98	35	chr9	34093402	.	G	A	885.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.858;DP=826;ExcessHet=0.0000;FS=1.592;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.84;ReadPosRankSum=1.80;SOR=0.904	GT:AD:DP:GQ:PL	0/1:74,39:113:99:900,0,1863	20	0	1	0
chr9	35906598	35906598	-	CCACCC	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.311_312insCCACCC:p.H107_R108insPH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0095	0.0018	0.0053	0.0034	0.0021	0	0.0008	0.0029624	458	154602	rs762598108	0.0062	0.0055	0.0063	0.0060	0.0106	0.0061	0.0060	0.0096	0.0092	0.0018	0.0046	0.0003	0.0106	0.0076	0.0030	0.0067	0.0054	0.0023	0.0085	0.0090	0.0083	0.0088	0.0303	0.0080	0.0077	0.0249	0.0229	0.0026	0	0.0088	0.0013	0.0303	0.0187	0.0114	0.0097	0.0101	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1128.38	42	chr9	35906598	.	A	ACCACCC,ACCACCACCACCACCACCC,C	1128.38	.	AC=1,1,1;AF=0.024,0.024,0.024;AN=42;BaseQRankSum=-1.116e+00;DP=676;ExcessHet=0.3300;FS=0.900;InbreedingCoeff=-0.0768;MLEAC=1,1,1;MLEAF=0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-4.940e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/2:2,0,14,0:16:34:521,530,606,0,76,34,530,606,76,606	18	0	1	0
chr9	77247315	77247315	G	T	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon20:c.G1957T:p.A653S	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.121	B	0.058	B	0.000	D	1.000	D	1.27	L	0.61	T	-1.023	T	0.119	T	0.463	3.280	17.01	5.52	2.743	4.107	16.082	0.058	0.0115127104807	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294055057	1.373e-06	2.052e-06	0	2.76e-06	1.803e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.803e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.34621	T	0.362	0.30534	T	0.121	0.26708	B	0.036	0.26451	B	0.000034	0.55875	D	0.119571	0.999986	0.54805	D	1.025	0.25523	L	0.61	0.53516	T	-1.07	0.31981	N	0.262	0.29659	-1.0234	0.22606	T	0.119	0.41713	T	10	0.17469022	0.32361	T	0.011513	0.29207	T	0.058	0.16647	0.661	0.79894	0.596289430357	0.59307	0.6724149351495822	0.67179	0.133449264394	0.15028	0.443638324738	0.31074	T	0.164415	0.50986	T	-0.051462	0.44225	T	-0.311698	0.43476	T	0.38830971743434	0.28500	T	0.864413	0.56401	D	0.1291693	0.30177	0.12831485	0.30873	0.1291693	0.30176	0.12831485	0.30872	-6.531	0.50525	T	.	.	0.121	0.24967	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.876115	0.38048	20.6	0.99303229652254554	0.58722	0.95365	0.64436	D	AEFBI	0.492485	0.52910	N	0.0703128589379383	0.45082	2.770749	0.252740625024719	0.52803	3.452931	0.999986895086554	0.51787	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	2.982000	0.49027	5.014000	0.46692	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1339:0.8661:0.0	16.082	0.80820	826	0.39940	.;.;VPS13, repeated coiled region;.;.;.;VPS13, repeated coiled region	.	.	.	.	.	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	1595.98	33	chr9	77247315	.	G	T	1595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=0.152;SOR=0.767	GT:AD:DP:GQ:PL	0/1:52,63:115:99:1610,0,1180	20	0	1	0
chr9	77295818	77295818	A	G	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon32:c.A3667G:p.I1223V	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.004	B	0.019	B	0.024	N	1.000	D	0.28	N	2.74	T	-0.961	T	0.017	T	0.083	0.500	6.714	-0.986	-0.138	1.294	10.217	0.030	0.00393376072711	.	.	2.491e-05	0	0	0	0	3.006e-05	0	6.064e-05	1.94e-05	3	154602	rs766063874	5.473e-06	5.472e-06	1.361e-06	9.627e-06	1.159e-05	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.296e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.14996	T	0.793	0.04155	T	0.001	0.12183	B	0.002	0.18783	B	0.023512	0.26429	N	0.347814	0.850312	0.28506	N	1.42	0.35681	L	2.74	0.11730	T	-0.3	0.12661	N	0.166	0.30233	-0.9610	0.38993	T	0.017	0.06807	T	10	0.059349507	0.07121	T	0.003934	0.09274	T	0.030	0.07022	0.409	0.44395	0.126345400529	0.12197	0.4058718258763962	0.40503	0.106865737165	0.12070	0.345787465572	0.17300	T	0.161873	0.50631	T	-0.384775	0.02906	T	-0.693625	0.06181	T	0.0267854375409409	0.01514	T	0.694431	0.30434	T	0.024248667	0.01238	0.032922506	0.02105	0.024248667	0.01238	0.032922506	0.02104	-3.599	0.17842	T	.	.	0.071	0.03811	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.748318	0.11177	7.817	0.57463526817156696	0.05775	0.17334	0.19792	N	AEFBI	0.057378	0.10682	N	-1.0101002539611	0.08394	0.3933935	-0.91260570262717	0.11796	0.6031503	0.0487290325396525	0.14779	0.706298	0.61202	0	0.653731	0.59785	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.17	-0.986	0.09728	1.370000	0.33843	0.665000	0.20538	-0.050000	0.17177	0.838000	0.30254	0.004000	0.18990	0.983000	0.59808	0.4634:0.0:0.5366:0.0	10.217	0.42350	755	0.51144	.;.;.;.;.;.;.	.	.	.	.	.	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	823.98	33	chr9	77295818	.	A	G	823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-02;DP=717;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.16;ReadPosRankSum=-3.170e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/1:13,30:43:99:838,0,275	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|1:58,19:77:99:0|1:86018822_G_C:143,0,1373:86018822	12	0	7	2
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	0/1:165,112:298:99:419,0,2468	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	1/2:0,44,37,0,0,0:81:99:2998,1385,1494,1743,0,1721,3085,1520,1800,3235,3085,1520,1800,3235,3235,3085,1520,1800,3235,3235,3235	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	1/2:0,44,37,0,0,0:81:99:2998,1385,1494,1743,0,1721,3085,1520,1800,3235,3085,1520,1800,3235,3235,3085,1520,1800,3235,3235,3235	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	1/2:0,44,37,0,0,0:81:99:2998,1385,1494,1743,0,1721,3085,1520,1800,3235,3085,1520,1800,3235,3235,3085,1520,1800,3235,3235,3235	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	1/2:0,44,37,0,0,0:81:99:2998,1385,1494,1743,0,1721,3085,1520,1800,3235,3085,1520,1800,3235,3235,3085,1520,1800,3235,3235,3235	1	2	3	0
chr9	94320521	94320521	G	A	exonic	NUTM2F	.	nonsynonymous SNV	NUTM2F:NM_017561:exon5:c.C1055T:p.A352V,	.	.	444	1075	3	0	0	3	0.0013934	.	.	3352606	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.008	B	0.003	B	.	.	1.000	N	0	N	2.78	T	-0.982	T	0.022	T	0.098	-0.612	1.277	-0.39	-0.697	-0.393	1.464	0.009	0.00153274722433	0.0004	.	0.0005	0	0.0004	0	0	0.0007	0.0012	0.0006	0.0004204	65	154602	rs200093724	0.0003	0.0003	0.0003	0.0003	0.0029	0.0003	0.0003	0.0017	0.0013	2.994e-05	0.0004	0.0056	5.038e-05	1.881e-05	0.0029	0.0002	0.0007	0.0005	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	0.0001	9.899e-05	0	0	0	0.0060	0	0	0	0.0002	0.0005	0.0004	0.53	0.22400	T	0.598	0.28120	T	0.008	0.14655	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.11	0.04642	N	2.78	0.11947	T	-0.29	0.26843	N	0.129	0.12341	-0.9823	0.34468	T	0.022	0.09467	T	9	0.005663842	0.00126	T	0.001533	0.02394	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.03919068401637067	0.03865	.	.	0.380668848753	0.22351	T	6.64E-4	0.00291	T	-0.61487	0.00118	T	-0.778263	0.02507	T	0.00561401504082442	0.00061	T	0.449655	0.12671	T	0.019409144	0.00471	0.029585129	0.01313	0.019409144	0.00471	0.029585129	0.01313	-7.584	0.58199	D	.	.	0.080	0.07602	B	.;.	.;.	-0.007846	0.04228	1.039	0.61334315276356288	0.06683	0.00354	0.01821	N	AEFI	0.031894	0.03500	N	-1.60033334962432	0.01263	0.05494734	-1.67554149356455	0.01249	0.05630762	1.82899882011972E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.195	-0.39	0.11830	-0.839000	0.04475	.	.	-0.349000	0.05595	0.000000	0.06391	.	.	0.003000	0.05239	0.3195:0.0:0.3429:0.3376	1.464	0.02257	917	0.20147	Nuclear Testis  protein, N-terminal;Nuclear Testis  protein, 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	292.98	27	chr9	94320521	.	G	A	292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.415e+00;DP=688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.01;MQRankSum=-1.041e+00;QD=8.14;ReadPosRankSum=2.14;SOR=0.954	GT:AD:DP:GQ:PL	0/1:23,13:36:99:307,0,690	20	0	1	0
chr9	95508310	95508310	T	A	exonic	PTCH1	.	nonsynonymous SNV	PTCH1:NM_000264:exon1:c.A52T:p.S18C	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1934223	Gorlin_syndrome	MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.025	B	0.012	B	.	.	1.000	D	0	N	-2.71	D	-0.724	T	0.419	T	0.162	1.000	9.084	-0.749	-0.527	0.224	7.701	0.244	0.587185741406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.005e-06	4.105e-06	0	8.211e-06	8.744e-05	1.17e-06	8.5e-07	3.385e-05	2.153e-05	0	0	0	0	0	0	0	0	8.744e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.042	0.50226	D	0.025	0.19245	B	0.012	0.16012	B	.	.	.	.	1	0.81001	D	0	0.06538	N	-2.71	0.90566	D	-0.26	0.11185	N	0.123	0.11483	-0.7241	0.59259	T	0.419	0.76476	T	9	0.107210785	0.19905	T	0.587186	0.96321	D	0.244	0.55061	0.325	0.30711	0.41960043425	0.41580	0.4012131813147003	0.40036	0.534996512572	0.50888	0.909535169601	0.97426	D	0.204289	0.56301	T	-0.28552	0.10090	T	-0.319946	0.42580	T	0.0149029916644772	0.00317	T	0.364364	0.08448	T	0.059469163	0.12091	0.068636276	0.14361	0.059469163	0.12091	0.068636276	0.14360	-4.41	0.29693	T	.	.	0.096	0.15160	B	.	.	2.250493	0.28748	17.90	0.83801257912541061	0.14927	0.53848	0.29471	D	AEFDGBHCI	0.196125	0.32312	N	-0.972549002562503	0.09193	0.4340892	-0.906250371987617	0.11947	0.6117139	0.999999736730378	0.74766	0.524318	0.21684	1	0.56911	0.20461	1	0.166054	0.03999	2	0.621717	0.48901	0	.	.	2.52	-0.749	0.10525	0.166000	0.16400	-0.864000	0.07130	0.257000	0.18371	0.151000	0.23669	0.001000	0.17328	0.573000	0.30723	0.0:0.7203:0.0:0.2797	7.701	0.27791	358	0.85037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	636.98	27	chr9	95508310	.	T	A	636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=720;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.33;ReadPosRankSum=0.282;SOR=0.638	GT:AD:DP:GQ:PL	0/1:18,21:39:99:651,0,471	20	0	1	0
chr9	97854424	97854424	-	GCC	exonic	FOXE1	.	nonframeshift insertion	FOXE1:NM_004473:exon1:c.510_511insGCC:p.A179_I180insA,	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755194188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10238.96	16	chr9	97854418	.	AGCCGCC	AGCCGCCGCC,A	10238.96	.	AC=2,29;AF=0.048,0.690;AN=42;BaseQRankSum=0.545;DP=637;ExcessHet=0.4237;FS=0.947;InbreedingCoeff=0.1378;MLEAC=2,29;MLEAF=0.048,0.690;MQ=60.00;MQRankSum=0.00;QD=30.56;ReadPosRankSum=1.13;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:9,0,7:16:99:.:.:267,294,672,0,378,356	2	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	0/1:85,28:113:99:138,0,1994	15	0	5	1
chr9	100586052	100586052	G	T	exonic	CAVIN4	.	nonsynonymous SNV	CAVIN4:NM_001018116:exon2:c.G696T:p.E232D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.748	P	0.391	B	0.000	D	0.686	D	2.275	M	-0.01	T	-0.538	T	0.226	T	0.466	2.821	15.40	-0.005	0.025	2.418	9.011	0.209	0.0542952965466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.072	0.43344	T	0.748	0.43202	P	0.391	0.44178	B	0.000339	0.45700	D	0.000000	0.686	0.33281	D	.	.	.	-0.01	0.62762	T	-2.12	0.48184	N	0.643	0.65501	-0.5385	0.67220	T	0.226	0.59058	T	10	0.40179336	0.55619	T	0.054295	0.65801	D	0.209	0.49871	0.314	0.28935	0.176091768786	0.17195	0.12353824256206461	0.12279	0.264892400789	0.29045	0.744064152241	0.73571	T	0.09359	0.39242	T	-0.0186069	0.49052	T	-0.264504	0.48373	T	0.826832354068756	0.48286	D	0.808019	0.45805	T	0.21813367	0.44314	0.1837148	0.41379	0.21813367	0.44314	0.1837148	0.41378	-5.35	0.40435	T	.	.	0.472	0.63258	A	.	.	2.789558	0.36664	20.3	0.99776944694003344	0.86433	0.89682	0.50304	D	AEFBI	0.327484	0.42844	N	-0.13464237117704	0.35889	2.06734	-0.182656827419539	0.32173	1.827842	0.999579504001202	0.40495	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	-0.00478	0.13343	2.437000	0.44487	0.831000	0.21948	-0.802000	0.03151	1.000000	0.71638	0.998000	0.33993	0.484000	0.28656	0.5018:0.0:0.4982:0.0	9.011	0.35302	802	0.44336	.	.	.	.	.	.	Uncertain significance	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	52.99	33	chr9	100586052	.	G	T	52.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.595e+00;DP=928;ExcessHet=0.0000;FS=103.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=2.94;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,17:99:67:0|1:100586052_G_T:67,0,3125:100586052	20	0	1	0
chr9	100586054	100586054	G	C	exonic	CAVIN4	.	nonsynonymous SNV	CAVIN4:NM_001018116:exon2:c.G698C:p.R233T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.871	P	0.000	D	0.757	D	1.61	L	0.18	T	-0.247	T	0.299	T	0.544	3.418	17.55	5.11	2.540	6.547	16.387	0.162	0.0694887468699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.056e-05	0.0023	1.122e-05	9.893e-06	1.21e-05	6.34e-06	5.03e-06	6.75e-06	5.2e-06	0	0	3.86e-05	0	0	0	1.21e-05	1.701e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.014	0.62352	D	0.99	0.63424	D	0.871	0.61869	P	0.000129	0.49741	D	0.000000	0.756557	0.33989	D	.	.	.	0.18	0.60361	T	-2.2	0.49519	N	0.457	0.49420	-0.2468	0.76445	T	0.299	0.67055	T	10	0.46477932	0.59503	T	0.069489	0.70744	D	0.162	0.41843	0.258	0.20002	0.427139414373	0.42328	0.2341529476637619	0.23330	0.308402732697	0.33150	0.728503465652	0.71288	T	0.102534	0.41034	T	0.0341579	0.56277	T	-0.188711	0.55711	T	0.924225926399231	0.58529	D	0.90371	0.66210	D	0.2688615	0.49958	0.31724674	0.57700	0.2688615	0.49958	0.31724674	0.57700	-8.203	0.62445	D	.	.	0.675	0.71929	P	.	.	4.547406	0.71534	25.7	0.98548972411744529	0.42820	0.96446	0.69180	D	AEFBI	0.735174	0.68107	D	0.613299247454443	0.74014	6.061404	0.593538571100228	0.74475	6.143361	0.999999930882717	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	5.11	0.69188	6.577000	0.73916	9.701000	0.81303	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.499000	0.28994	0.0:0.0:1.0:0.0	16.387	0.83343	802	0.44336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	52.15	33	chr9	100586054	.	G	C	52.15	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.155e+00;DP=1041;ExcessHet=0.1072;FS=103.898;InbreedingCoeff=-0.0593;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.28;ReadPosRankSum=2.96;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,17:100:64:0|1:100586052_G_T:64,0,3158:100586052	18	0	2	1
chr9	100586055	100586055	G	C	exonic	CAVIN4	.	nonsynonymous SNV	CAVIN4:NM_001018116:exon2:c.G699C:p.R233S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.969	D	0.821	P	0.000	D	0.518	N	1.61	L	0.19	T	-0.496	T	0.235	T	0.557	3.095	16.34	3.24	1.288	2.061	7.494	0.196	0.0829192868762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.307e-05	0.0029	2.591e-05	2.022e-05	0.0002	1.67e-05	1.429e-05	1.949e-05	1.685e-05	6.234e-05	0	0	0	0	0.0002	2.778e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.969	0.56768	D	0.821	0.59116	P	0.000129	0.49741	D	0.000000	0.517869	0.31594	N	.	.	.	0.19	0.60236	T	-1.49	0.36385	N	0.476	0.51137	-0.4964	0.68780	T	0.235	0.60197	T	10	0.47367412	0.60015	T	0.082919	0.74005	D	0.196	0.47777	0.322	0.30226	0.321672782286	0.31767	0.21857767357817443	0.21773	0.277654750267	0.30242	0.7022742033	0.67473	T	0.090632	0.38625	T	0.0182288	0.54142	T	-0.211592	0.53542	T	0.881147146224976	0.53119	D	0.89811	0.64401	D	0.2620145	0.49262	0.23967062	0.49322	0.2620145	0.49262	0.23967062	0.49321	-6.931	0.53529	T	.	.	0.856	0.80106	P	.	.	3.638836	0.51583	23.1	0.9975853377935664	0.84851	0.93365	0.58022	D	AEFBI	0.404018	0.47747	N	0.323277551888876	0.57346	3.901506	0.275658445211492	0.54123	3.578194	0.999929669172451	0.46280	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	3.24	0.36257	2.095000	0.41354	2.423000	0.32696	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.493000	0.28859	0.2751:0.0:0.7249:0.0	7.494	0.26646	802	0.44336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	53.24	66	chr9	100586055	.	G	C	53.24	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.805e+00;DP=1127;ExcessHet=0.1072;FS=104.887;InbreedingCoeff=-0.0479;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.29;ReadPosRankSum=2.98;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,17:100:64:0|1:100586052_G_T:64,0,3158:100586052	19	0	2	0
chr9	103005658	103005658	G	A	exonic	CYLC2	.	nonsynonymous SNV	CYLC2:NM_001340:exon5:c.G1027A:p.A343T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.877	P	0.682	P	.	.	1.000	N	0.345	N	2.42	T	-1.075	T	0.028	T	0.037	0.776	8.096	.	0.259	-0.086	.	0.072	0.00882713347646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.562	0.09052	T	0.877	0.48223	P	0.682	0.53531	P	.	.	.	.	0.999922	0.19486	N	0	0.06538	N	2.42	0.15376	T	-0.13	0.08971	N	0.054	0.02559	-1.0747	0.08410	T	0.028	0.12147	T	7	0.079550326	0.12809	T	0.008827	0.23294	T	0.072	0.21020	0.227	0.15257	0.154104182512	0.14974	2.2433015140729094E-5	0.00002	0.00232610025833	0.00198	0.331680029631	0.15189	T	0.002921	0.02319	T	-0.407042	0.02080	T	-0.822464	0.01403	T	0.189696347943829	0.19826	T	0.285271	0.05070	T	0.06665097	0.14361	0.14013068	0.33412	0.06665097	0.14361	0.14013068	0.33411	-5.368	0.40611	T	.	.	0.073	0.05317	B	.;.;.	.;.;.	0.218202	0.06011	2.450	0.77601626828840753	0.11944	0.17404	0.19822	N	AEFGI	0.068933	0.13622	N	-0.745841452484906	0.14747	0.7372115	-0.900477734969112	0.12083	0.6194827	3.38153684950379E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.398000	0.07320	0.359000	0.17556	-0.254000	0.07082	0.000000	0.06391	0.652000	0.25970	0.029000	0.12982	.	.	.	506	0.75555	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	169.33	34	chr9	103005658	.	G	A	169.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.019e+00;DP=1430;ExcessHet=0.0000;FS=137.420;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=-4.550e-01;SOR=7.903	GT:AD:DP:GQ:PL	0/1:144,51:195:99:183,0,2180	19	0	1	1
chr9	104694845	104694845	A	G	exonic	OR13D1	.	nonsynonymous SNV	OR13D1:NM_001004484:exon1:c.A424G:p.T142A,	.	.	433	1035	54	0	0	54	0.0254237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.889	P	0.46	P	0.002	N	1.000	N	1.79	L	4.45	T	-1.011	T	0.008	T	0.275	2.495	14.30	3.75	1.560	0.088	10.433	0.043	.	0.0029	0.00539137	0.0056	0.0006	0.0030	0	0.0003	0.0034	0.0077	0.0246	0.0050323	778	154602	rs139937095	0.0039	0.0039	0.0031	0.0046	0.0233	0.0038	0.0038	0.0224	0.0221	0.0003	0.0023	0.0246	0	0.0002	0.0179	0.0022	0.0058	0.0233	0.0027	0.0027	0.0025	0.0030	0.0174	0.0025	0.0024	0.0144	0.0133	0.0005	0	0.0027	0.0308	0.0006	0	0.0034	0.0022	0.0052	0.0174	0.001	0.78490	D	0.061	0.45530	T	0.889	0.48869	P	0.46	0.46423	P	0.002207	0.37012	N	0.121018	1	0.08975	N	1.56	0.39490	L	4.45	0.02121	T	-4.85	0.81107	D	0.056	0.02759	-1.0109	0.26635	T	0.008	0.02926	T	10	0.0064913332	0.00147	T	.	.	.	0.043	0.11576	.	.	0.346768085243	0.34289	0.17119933839543708	0.17039	0.0913270158701	0.10314	0.211758986115	0.00888	T	0.006661	0.06088	T	-0.558641	0.00259	T	-0.556301	0.16727	T	0.0682928540585661	0.08410	T	0.577142	0.20757	T	0.453373	0.64255	0.6090316	0.77262	0.453373	0.64255	0.6090316	0.77263	-6.246	0.48293	T	.	.	0.088	0.11797	B	.;.	.;.	2.845789	0.37553	20.5	0.99637367300904922	0.76449	0.06597	0.12612	N	AEFDGI	0.071517	0.14241	N	-0.137321255061406	0.35777	2.059277	-0.253945567421244	0.29635	1.661925	3.58516400389856E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	3.75	0.42236	0.037000	0.13728	4.788000	0.44881	0.733000	0.85838	0.000000	0.06391	0.255000	0.23945	0.716000	0.34643	1.0:0.0:0.0:0.0	10.433	0.43603	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3995.11	136	chr9	104694845	.	A	G	3995.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.45;DP=2288;ExcessHet=0.1072;FS=0.394;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.88;MQRankSum=0.808;QD=11.82;ReadPosRankSum=0.799;SOR=0.667	GT:AD:DP:GQ:PL	0/1:95,77:172:99:1907,0,2681	19	0	2	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.991	D	0.000	D	1.000	D	0.53	N	4.0	T	-1.074	T	0.061	T	0.838	4.266	22.3	5.66	2.151	7.665	15.905	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2812	2879.53	98	chr9	106974250	.	T	C	2879.53	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-3.477e+00;DP=2598;ExcessHet=4.7172;FS=245.377;InbreedingCoeff=-0.3916;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.97;ReadPosRankSum=1.47;SOR=12.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,43:155:99:0|1:106974250_T_C:536,0,3102:106974250	7	0	9	5
chr9	110800836	110800836	A	G	exonic	MUSK	.	nonsynonymous SNV	MUSK:NM_001369398:exon9:c.A1198G:p.I400V	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.005	B	0.027	B	0.000	D	1.000	D	-0.075	N	-1.59	D	-0.726	T	0.255	T	0.146	0.648	7.477	5.62	2.266	3.501	11.234	0.242	0.0168074123812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.844	0.02782	T	1.0	0.01155	T	0.005	0.12996	B	0.027	0.21085	B	0.000005	0.62929	D	0.106321	0.997725	0.44134	D	-0.205	0.04094	N	-1.59	0.82076	D	-0.27	0.11366	N	0.084	0.14905	-0.7256	0.59184	T	0.255	0.62530	T	10	0.15336004	0.28950	T	0.016807	0.38239	T	0.242	0.54781	0.6	0.73105	0.621830897814	0.61876	0.3574911797212814	0.35663	0.137857802033	0.15542	0.41606593132	0.27295	T	0.206198	0.56548	T	-0.0925583	0.37654	T	-0.37073	0.36803	T	0.811839282512665	0.47178	D	0.837116	0.50934	T	0.06685322	0.14423	0.07862274	0.17625	0.06685322	0.14423	0.07862274	0.17625	-1.747	0.02356	T	0.2148973573422226	0.28882	0.273	0.57938	B	.;.;.;.	.;.;.;.	1.955412	0.24836	16.54	0.92816363878119112	0.22343	0.84264	0.43346	D	AEFGBI	0.303897	0.41174	N	-0.309485064409963	0.28787	1.590741	-0.0472363839971343	0.37611	2.204454	0.999933806994181	0.46732	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	3.490000	0.53007	5.429000	0.48587	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9262:0.0:0.0738:0.0	11.234	0.48161	935	0.14827	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	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	2212.98	38	chr9	110800836	.	A	G	2212.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.030e-01;DP=915;ExcessHet=0.0000;FS=3.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-6.240e-01;SOR=0.961	GT:AD:DP:GQ:PL	0/1:104,94:198:99:2227,0,2594	20	0	1	0
chr9	114331576	114331576	G	A	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon4:c.G338A:p.R113Q,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.001	B	0.001	B	0.085	N	1.000	N	1.115	L	3.14	T	-1.016	T	0.009	T	0.08	-1.178	0.084	-5.9	-4.920	-3.988	6.802	0.026	.	0.0059	0.00579073	0.0015	0.0162	0.0005	0	0	3.001e-05	0	6.066e-05	0.001423	220	154602	rs142633392	0.0005	0.0005	0.0006	0.0005	0.0186	0.0005	0.0005	0.0173	0.0169	0.0186	0.0005	0	0	1.872e-05	0.0005	3.598e-05	0.0013	9.276e-05	0.0049	0.0050	0.0051	0.0047	0.0168	0.0046	0.0045	0.0158	0.0153	0.0168	0	0.0022	0	0	0	0	0.0001	0.0038	0.0002	0.417	0.09927	T	0.35	0.17478	T	0.001	0.07471	B	0.001	0.04355	B	0.084964	0.02394	N	1.906400	1	0.08975	N	0.255	0.09829	N	3.14	0.07920	T	-0.56	0.17003	N	0.057	0.02861	-1.0159	0.25045	T	0.009	0.03271	T	10	0.003284514	0.00056	T	.	.	.	0.026	0.05648	.	.	0.0986583533028	0.09354	0.1790685206188053	0.17825	0.0106233313523	0.00978	.	.	.	0.003549	0.02960	T	-0.747746	0.00018	T	-0.832582	0.01217	T	0.00399802169276008	0.00042	T	0.361564	0.08348	T	0.046601556	0.07827	0.06449665	0.12937	0.046601556	0.07827	0.06449665	0.12936	-4.109	0.25423	T	.	.	0.083	0.09336	B	.	.	-2.452587	0.00035	0.001	0.52517849141254735	0.04763	0.00752	0.03125	N	AEFDBCI	0.182820	0.31014	N	-2.26146102077943	0.00056	0.00238746	-2.40678595403585	0.00038	0.00166709	0.999999999999871	0.74766	0.660377	0.49826	0	0.759151	0.99529	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	2.95	-5.9	0.02087	-4.326000	0.00288	-12.862000	0.00495	-2.044000	0.00422	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.121:0.0928:0.6382:0.148	6.802	0.22938	624	0.65661	Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1891.98	36	chr9	114331576	.	G	A	1891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-1.213e+00;SOR=0.736	GT:AD:DP:GQ:PL	0/1:84,77:161:99:1906,0,1836	20	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.956	D	0.000	D	1.000	D	2.295	M	3.72	T	-1.147	T	0.071	T	0.888	2.729	15.09	4.38	2.485	0.438	9.668	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3529	5368.01	152	chr9	114406374	.	C	G	5368.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.027e+00;DP=4227;ExcessHet=9.6308;FS=138.874;InbreedingCoeff=-0.5312;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.063;SOR=12.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,35:206:96:.:.:96,0,5752	5	0	12	4
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.982	D	0.000	D	1.000	D	2.295	M	3.67	T	-1.010	T	0.111	T	0.82	3.969	20.3	5.29	2.485	5.391	18.935	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2632	4474.23	143	chr9	114406375	.	C	G	4474.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.573e+00;DP=3997;ExcessHet=6.1002;FS=130.641;InbreedingCoeff=-0.3565;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.30;ReadPosRankSum=0.216;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,35:206:96:.:.:96,0,5752	9	0	10	2
chr9	114423486	114423486	G	A	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon3:c.C401T:p.P134L	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	54819	not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_31|Usher_syndrome_type_2D	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636|MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.982	D	0.000	N	1.000	D	2.25	M	3.73	T	-1.129	T	0.058	T	0.544	4.916	28.4	4.41	1.247	8.960	13.759	0.244	.	0.0028	0.00199681	0.0034	0.0011	0.0008	0.0001	0.0178	0.0032	0.0088	0.0031	0.0030983	479	154602	rs79572315	0.0031	0.0031	0.0031	0.0031	0.0036	0.0030	0.0030	0.0033	0.0032	0.0013	0.0007	3.829e-05	0.0001	0.0166	0.0026	0.0027	0.0031	0.0036	0.0035	0.0035	0.0026	0.0046	0.0024	0.0033	0.0032	0.0021	0.0020	0.0015	0	0.0009	0	0.0006	0.0265	0	0.0024	0.0014	0.0021	0.009	0.63226	D	0.196	0.36365	T	0.997	0.77913	D	0.974	0.73157	D	0.000001	0.62929	N	0.058329	1	0.81001	D	2.67	0.78151	M	3.73	0.10674	T	-5.16	0.83422	D	0.765	0.76296	-1.1289	0.01836	T	0.058	0.24204	T	10	0.008380979	0.00190	T	.	.	.	0.244	0.55061	.	.	0.522928537951	0.51938	0.5321338413449586	0.53138	0.506194394545	0.48837	0.606746792793	0.53856	T	0.515533	0.82957	D	-0.379909	0.03120	T	-0.32154	0.42405	T	0.0214574827305478	0.00849	T	0.918008	0.75346	D	0.36924544	0.58529	0.29008386	0.55031	0.32678905	0.55206	0.26182386	0.51965	-9.459	0.75811	D	.	.	0.140	0.34840	B	.;.;.	.;.;.	5.500997	0.91587	32	0.99868317066776546	0.94637	0.98118	0.79751	D	AEFDBI	0.855583	0.77271	D	0.692525358861219	0.79144	7.015778	0.651573562423459	0.78729	6.934922	0.999999996252282	0.74766	0.626454	0.40138	0	0.670034	0.63936	0	0.80507	0.99327	0	0.616125	0.45549	0	.	.	5.3	4.41	0.52588	9.083000	0.93460	9.782000	0.81603	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0739:0.0:0.9261:0.0	13.759	0.62441	702	0.57624	.;.;.	.	.	.	.	rs79572315	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1972.98	39	chr9	114423486	.	G	A	1972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=1.33;SOR=0.730	GT:AD:DP:GQ:PL	0/1:109,83:192:99:1987,0,2592	20	0	1	0
chr9	122567981	122567981	C	T	exonic	OR1L8	.	nonsynonymous SNV	OR1L8:NM_001004454:exon1:c.G497A:p.R166H,	.	.	411	1110	1	0	0	1	0.000450248	.	.	2678601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.037	B	0.036	B	0.021	N	1.000	N	1.34	L	8.63	T	-0.989	T	0.000	T	0.056	1.873	12.22	-8.98	-2.450	-1.955	5.884	0.033	0.00284720031967	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs373426364	2.668e-05	2.668e-05	2.178e-05	3.163e-05	0.0003	1.997e-05	1.754e-05	6.092e-05	2.521e-05	2.987e-05	2.236e-05	0	2.519e-05	0	0.0003	2.338e-05	0.0001	1.159e-05	3.289e-05	3.284e-05	1.285e-05	5.388e-05	4.41e-05	1.262e-05	7.99e-06	1.171e-05	6.25e-06	2.417e-05	0	0	0	0	9.445e-05	0	4.41e-05	0	0	0.049	0.39820	D	0.117	0.36365	T	0.037	0.20876	B	0.036	0.22909	B	0.020616	0.01536	N	2.578920	1	0.08975	N	1.36	0.34107	L	8.63	0.00155	T	-2.47	0.53898	N	0.041	0.01421	-0.9891	0.32828	T	0.000	0.00152	T	10	0.10308471	0.18931	T	0.002847	0.05986	T	0.033	0.08068	0.585	0.71245	0.117506650769	0.11410	0.14909408764596918	0.14831	0.0922132588364	0.10410	0.168194621801	0.00026	T	0.009957	0.09029	T	-0.516992	0.00458	T	-0.811271	0.01637	T	0.0671330068924307	0.08243	T	0.658834	0.26791	T	0.044203635	0.07024	0.04420983	0.05676	0.044203635	0.07023	0.04420983	0.05676	-4.887	0.35589	T	.	.	0.064	0.02370	B	.;.	.;.	-1.116216	0.00621	0.016	0.83178918993001827	0.14584	0.02945	0.07771	N	AEFGBI	0.060717	0.11559	N	-1.43794936688437	0.02313	0.1019955	-1.55948438697742	0.01911	0.08718438	0.934644011688942	0.27179	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.49	-8.98	0.00647	-3.138000	0.00648	-20.000000	0.00162	-2.004000	0.00446	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4193:0.1963:0.0:0.3844	5.884	0.18117	941	0.13089	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1652.98	96	chr9	122567981	.	C	T	1652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=1820;ExcessHet=0.0000;FS=9.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-7.810e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/1:63,63:126:99:1667,0,1452	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|1:277,39:316:99:0|1:122724732_T_C:691,0,11347:122724732	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|1:268,30:298:99:0|1:122724732_T_C:453,0,11163:122724732	5	0	12	4
chr9	127709469	127709469	G	A	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon2:c.G209A:p.R70H,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.516	P	0.063	B	0.026	N	1.000	D	1.155	L	0.92	T	-1.077	T	0.065	T	0.22	2.186	13.27	3.22	1.117	1.259	8.615	0.031	0.00883925515285	0.0003	0.000399361	0.0002	0	0	0	0	0.0002	0	0.0003	0.0001617	25	154602	rs372321100	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0006	0.0006	0	2.237e-05	0	5.038e-05	1.879e-05	0.0009	0.0002	0.0001	0.0008	0.0001	0.0001	6.424e-05	0.0002	0.0002	7.086e-05	5.743e-05	0.0001	8.876e-05	2.406e-05	0	0	0	0.0002	0	0	0.0002	0.0005	0.0002	0.133	0.26409	T	0.069	0.45961	T	0.516	0.37437	P	0.063	0.27082	B	0.026317	0.25941	N	0.451476	0.998678	0.21993	N	.	.	.	0.92	0.44461	T	-2.15	0.48687	N	0.317	0.35727	-1.0768	0.07983	T	0.065	0.26948	T	10	0.05564767	0.06116	T	0.008839	0.23318	T	0.031	0.07369	.	.	0.519187973786	0.51563	0.25266778676588714	0.25180	0.908210176279	0.70936	.	.	.	0.051506	0.28899	T	-0.434093	0.01401	T	-0.51189	0.21121	T	0.0703867058637956	0.08704	T	0.759724	0.38410	T	0.055521592	0.10801	0.0561324	0.09975	0.055521592	0.10800	0.0561324	0.09974	-6.814	0.57540	T	.	.	0.09	0.12607	B	.;.	.;.	2.818074	0.37116	20.4	0.99607729246223076	0.74634	0.54234	0.29566	D	AEFGBCI	0.120243	0.23432	N	-0.139241537740942	0.35695	2.053498	-0.0551691638916645	0.37267	2.179737	0.999258224189872	0.38906	0.660377	0.49826	0	0.588066	0.40923	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	5.12	3.22	0.36041	1.303000	0.33075	1.723000	0.28273	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.608000	0.31589	0.1876:0.0:0.8124:0.0	8.615	0.32988	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	857.98	34	chr9	127709469	.	G	A	857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=-2.830e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/1:50,37:87:99:872,0,1115	20	0	1	0
chr9	128634748	128634748	C	G	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1155C:p.Q385H,	.	.	.	.	.	.	.	.	.	.	.	2111050	Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly|Inborn_genetic_diseases	MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.848	P	0.722	P	0.033	N	0.801	D	0.69	N	-0.12	T	-0.643	T	0.200	T	0.238	2.674	14.90	3.34	1.170	0.505	8.416	0.123	0.0648282193291	0.0002	.	0.0002	0	0	0	0	0.0004	0	0	8.41e-05	13	154602	rs138263531	4.344e-05	4.378e-05	3.974e-05	4.72e-05	0.0003	3.47e-05	3.154e-05	6.115e-05	2.53e-05	0	9.383e-05	0.0015	0	0	0.0003	7.227e-06	0.0002	0	5.911e-05	5.91e-05	3.853e-05	8.066e-05	0.0001	3.076e-05	2.209e-05	2.26e-05	9.07e-06	0	0	0.0001	0.0020	0	0	0	0	0	0	0.044	0.41096	D	0.12	0.35970	T	0.848	0.46844	P	0.722	0.54942	P	0.033298	0.24917	N	0.435352	0.800986	0.34511	D	0.895	0.22405	L	-0.12	0.64630	T	-1.64	0.39314	N	0.444	0.48227	-0.6431	0.63013	T	0.200	0.55541	T	10	0.07377285	0.11190	T	0.064828	0.69397	D	0.123	0.34020	0.434	0.48500	0.575045364607	0.57173	0.3960049347675737	0.39515	0.312824787372	0.33584	0.340353131294	0.16491	T	0.052151	0.29079	T	-0.223371	0.17535	T	-0.377723	0.35988	T	0.0878588128712742	0.10962	T	0.854315	0.54093	D	0.1550096	0.35054	0.110810064	0.26722	0.1550096	0.35054	0.110810064	0.26721	-6.43	0.49744	T	.	.	0.204	0.42920	B	.	.	2.648445	0.34475	19.64	0.99569685253584017	0.72318	0.63718	0.32177	D	AEFDGBCI	0.248822	0.36916	N	0.0595895887776379	0.44585	2.729837	0.0612501213379191	0.42620	2.580985	0.999999918663517	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	3.34	0.37357	0.532000	0.22776	-0.067000	0.12346	0.524000	0.24156	0.998000	0.41325	0.570000	0.25566	0.787000	0.37188	0.0:0.7294:0.1296:0.141	8.416	0.31831	398	0.82839	.	.	.	.	.	.	Uncertain significance	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	1414.98	36	chr9	128634748	.	C	G	1414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=818;ExcessHet=0.0000;FS=3.473;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-2.100e-01;SOR=1.022	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1429,0,1509	20	0	1	0
chr9	131117828	131117828	T	C	exonic	AIF1L	.	nonsynonymous SNV	AIF1L:NM_001185096:exon5:c.T275C:p.I92T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.979	D	0.000	D	1.000	D	3.165	M	1.11	T	-0.100	T	0.377	T	0.977	5.102	31	5.74	2.192	8.013	15.223	0.829	0.086331759809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	0.962	0.73220	D	0.744	0.74454	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.04	0.86592	M	0.78	0.50976	T	-4.79	0.80595	D	0.967	0.98065	-0.0997	0.80104	T	0.377	0.73438	T	10	0.9224597	0.91598	D	0.086332	0.74714	D	0.829	0.94579	.	.	0.805461841073	0.80364	0.7238422849693593	0.72328	1.03534464927	0.75567	0.843075454235	0.88563	D	0.31304	0.76002	T	0.321721	0.84592	D	0.224353	0.84391	D	0.996974255464703	0.90488	D	0.961204	0.90184	D	0.8458817	0.87033	0.71896714	0.83409	0.8458817	0.87034	0.71896714	0.83410	-10.81	0.84118	D	.	.	0.963	0.90501	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.555044	0.71721	25.7	0.99846229060438119	0.92576	0.93631	0.58748	D	AEFGBCI	0.940799	0.94325	D	0.878168267895768	0.90649	10.50113	0.839486138280923	0.92388	11.39726	0.999999999999895	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.654926	0.60358	0	.	.	5.74	5.74	0.90070	7.991000	0.87898	7.825000	0.69893	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	15.223	0.73020	358	0.85037	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	49.41	33	chr9	131117828	.	T	C	49.41	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.351e+00;DP=1141;ExcessHet=0.1072;FS=160.711;InbreedingCoeff=-0.0571;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=1.50;SOR=9.308	GT:AD:DP:GQ:PL	0/1:149,39:188:18:18,0,3354	19	0	2	0
chr9	131525948	131525948	C	A	exonic	UCK1	.	nonsynonymous SNV	UCK1:NM_001135954:exon5:c.G538T:p.A180S,	.	.	441	12	103	962	4	2031	0.988298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.000	P	.	.	.	.	-1.006	T	0.084	T	.	1.509	11.00	-5.08	-1.075	-1.779	8.437	0.047	.	.	0.00359425	0.0115	0.0019	0.0029	0	0.0449	0.0153	0.0165	0.0005	0.0101616	1571	154602	rs2296957	0.0096	0.0096	0.0096	0.0095	0.0095	0.0094	0.0094	0.0093	0.0093	0.0010	0.0026	0.0129	0	0.0450	0.0040	0.0095	0.0079	0.0007	0.0100	0.0100	0.0094	0.0106	0.0126	0.0096	0.0094	0.0119	0.0117	0.0019	0.0022	0.0045	0.0130	0	0.0421	0.0102	0.0126	0.0076	0.0006	0.011	0.55530	D	0.243	0.24193	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.961213	0.81001	P	.	.	.	.	.	.	0.0	0.07008	N	0.172	0.18376	-1.0056	0.28277	T	0.084	0.32900	T	6	0.0025280416	0.00038	T	.	.	.	0.047	0.12962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405995	0.02114	T	-0.339041	0.40452	T	0.00859621503851041	0.00105	T	0.247575	0.03662	T	.	.	.	.	.	.	.	.	-3.789	0.20640	T	.	.	0.073	0.04599	B	.	.	-0.350826	0.02404	0.268	0.94187066689665522	0.24411	0.05572	0.11472	N	AEFDGBI	0.025031	0.01647	N	-1.132785988659	0.06068	0.2783438	-1.18764225716248	0.06115	0.2933808	0.994168486267738	0.33516	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	-5.08	0.02708	-1.771000	0.01887	-0.905000	0.06976	-2.303000	0.00321	0.001000	0.13787	0.000000	0.08366	0.763000	0.36255	0.1735:0.394:0.4325:0.0	8.437	0.31954	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.9048	62824.01	90	chr9	131525948	.	C	T,A	62824.01	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-7.610e-01;DP=2393;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=60.00;MQRankSum=0.00;QD=26.87;ReadPosRankSum=0.558;SOR=0.662	GT:AD:DP:GQ:PL	0/1:60,58,0:118:99:1353,0,1349,1533,1522,3055	0	17	3	0
chr9	133071615	133071647	CCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	-	exonic	CEL	.	nonframeshift deletion	CEL:NM_001807:exon11:c.2113_2145del:p.E710_S720del,	Maturity-onset diabetes of the young, type VIII, Autosomal dominant	.	24	1475	14	1	8	24	0.00539447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0529	0.0229	0.0257	0.0016	0.0900	0.0871	0.0267	0.0167	0.0014215	37	26028	rs774195156	0.0075	0.0076	0.0069	0.0081	0.0075	0.0074	0.0073	0.0074	0.0073	0.0026	0.0037	0.0047	0.0003	0.0259	0.0012	0.0075	0.0084	0.0053	0.0098	0.0100	0.0102	0.0094	0.0158	0.0094	0.0092	0.0149	0.0146	0.0031	0.0044	0.0053	0.0040	0.0003	0.0148	0	0.0158	0.0073	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2515.64	40	chr9	133071614	.	CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	C	2515.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.100e-01;DP=838;ExcessHet=0.3300;FS=2.114;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.62;MQRankSum=-4.050e-01;QD=15.43;ReadPosRankSum=0.884;SOR=0.923	GT:AD:DP:GQ:PL	0/1:28,18:46:99:675,0,1093	18	0	3	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	0/1:9,9:18:99:.:.:247,0,270	16	0	4	1
chr9	135484551	135484551	C	A	exonic	PPP1R26	.	nonsynonymous SNV	PPP1R26:NM_014811:exon4:c.C41A:p.S14Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	0.003	N	1.000	D	2.175	M	1.7	T	-0.826	T	0.174	T	0.713	4.654	25.6	5.44	2.555	7.147	18.259	0.377	0.0502899856482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.992	0.80445	D	0.002874	0.35804	N	0.240088	0.999878	0.50225	D	2.62	0.76659	M	1.7	0.26885	T	-4.77	0.83625	D	0.409	0.45992	-0.8259	0.53563	T	0.174	0.51674	T	10	0.3299058	0.50236	T	0.05029	0.64181	D	0.377	0.69527	0.321	0.30064	0.102598925029	0.09809	0.5015087269937312	0.50072	0.704328707761	0.61311	0.67654466629	0.63774	T	0.037059	0.24335	T	0.0807456	0.62127	D	-0.121791	0.61656	T	0.993035395924338	0.83685	D	0.731927	0.34732	T	0.66250914	0.76033	0.69857264	0.82245	0.66250914	0.76034	0.69857264	0.82246	-5.485	0.41728	T	.	.	0.399	0.59499	A	.;.;.;.;.	.;.;.;.;.	4.369740	0.67261	25.1	0.99493914103984449	0.67630	0.99553	0.97372	D	AEFGBI	0.789081	0.71837	D	0.78428010874916	0.85112	8.480197	0.746538326165197	0.85898	8.719922	0.999999999999995	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	7.227000	0.77548	3.934000	0.40555	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:1.0:0.0:0.0	18.259	0.89968	516	0.74704	Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1557.06	46	chr9	135484551	.	C	A	1557.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.775;DP=1000;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=0.907;SOR=0.680	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1571,0,1584	20	0	1	0
chr9	136383545	136383545	-	GCTGCT	exonic	SNAPC4	.	nonframeshift insertion	SNAPC4:NM_003086:exon15:c.1623_1624insAGCAGC:p.S542_E543insSS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6548.32	36	chr9	136383542	.	CGCT	C,CGCTGCTGCT	6548.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.600e-02;DP=974;ExcessHet=0.9430;FS=6.521;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.66;ReadPosRankSum=-6.600e-02;SOR=0.992	GT:AD:DP:GQ:PL	0/1:32,32,0:64:99:1213,0,1238,1309,1334,2643	13	1	6	0
chr9	136506947	136506947	C	A	exonic	NOTCH1	.	nonsynonymous SNV	NOTCH1:NM_017617:exon23:c.G3670T:p.D1224Y,	Adams-Oliver syndrome 5, Autosomal dominant;Aortic valve disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	1.915	M	-3.77	D	1.022	D	0.909	D	0.832	3.761	19.10	5.23	2.439	7.715	17.788	0.777	0.334878674417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	-3.77	0.95595	D	-7.98	0.96395	D	0.937	0.94314	1.022	0.97565	D	0.909	0.96976	D	10	0.9578195	0.95159	D	0.334879	0.91854	D	0.777	0.92542	0.489	0.57415	0.956377911577	0.95591	.	.	1.3271011008	0.83577	0.573227643967	0.49133	T	0.831514	0.95982	D	0.420475	0.91046	D	0.366207	0.90934	D	0.99607652425766	0.88617	D	0.942906	0.78488	D	0.90211755	0.91573	0.69513464	0.82051	0.90211755	0.91574	0.69513464	0.82052	-12.474	0.87083	D	.	.	.	.	.	.	.	4.273899	0.65055	24.8	0.9886121318070048	0.47476	0.99335	0.94660	D	AEFGBI	0.870718	0.79180	D	0.660951889362184	0.77078	6.606194	0.596436596814421	0.74683	6.179054	0.999999999999527	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.23	5.23	0.72570	7.802000	0.84533	5.911000	0.51023	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.116000	0.19000	0.0:1.0:0.0:0.0	17.788	0.88454	934	0.15400	EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	973.98	34	chr9	136506947	.	C	A	973.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.75;DP=757;ExcessHet=0.0000;FS=1.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.73;ReadPosRankSum=0.111;SOR=1.426	GT:AD:DP:GQ:PL	0/1:23,29:52:99:988,0,542	20	0	1	0
chr9	136839281	136839281	C	T	exonic	RABL6	.	nonsynonymous SNV	RABL6:NM_001173988:exon12:c.C1556T:p.P519L	.	.	.	.	.	.	.	.	.	.	.	700903	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.33	T	0.993	D	0.89	P	0.398	U	1.000	N	1.935	M	-0.08	T	-0.840	T	0.239	T	0.144	2.663	14.87	2.07	0.414	1.146	8.052	0.132	.	0.0036	0.00379393	0.0013	0.0150	0.0003	0	0	0.0002	0.0015	0	0.001009	156	154602	rs144926317	0.0003	0.0003	0.0004	0.0003	0.0115	0.0003	0.0003	0.0105	0.0102	0.0115	0.0005	0.0007	0	0	0.0030	2.251e-05	0.0007	0	0.0035	0.0035	0.0038	0.0033	0.0122	0.0033	0.0032	0.0113	0.0110	0.0122	0	0.0014	0.0012	0	0	0	2.94e-05	0.0019	0	0.49	0.08188	T	0.073	0.53426	T	0.979	0.62325	D	0.778	0.63100	P	0.397778	0.13167	U	0.716271	0.999998	0.20152	N	2.39	0.68882	M	-0.09	0.64086	T	-1.83	0.42957	N	0.194	0.21319	-0.8402	0.52633	T	0.239	0.60667	T	10	0.004451871	0.00091	T	.	.	.	0.132	0.35948	.	.	0.425592409813	0.42174	0.14868552859551176	0.14790	0.00750058978399	0.00664	0.261873751879	0.05116	T	0.019611	0.15591	T	-0.486132	0.00683	T	-0.460683	0.26526	T	0.0102703231353284	0.00140	T	0.443756	0.12347	T	0.027661093	0.01991	0.03117527	0.01671	0.027661093	0.01990	0.03117527	0.01670	-4.737	0.34157	T	.	.	0.069	0.03964	B	.;.	.;.	1.249119	0.16459	12.55	0.99274715009202807	0.57696	0.45759	0.27609	N	AEFDGBHCI	0.127755	0.24526	N	-0.314787316046395	0.28585	1.57794	-0.558383478600892	0.20583	1.109634	0.999867305399311	0.44398	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.02	2.07	0.26004	-0.034000	0.12176	0.975000	0.23085	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.243:0.757:0.0:0.0	8.052	0.29747	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	1863.98	36	chr9	136839281	.	C	T	1863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=821;ExcessHet=0.0000;FS=2.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.10;ReadPosRankSum=-1.876e+00;SOR=0.924	GT:AD:DP:GQ:PL	0/1:43,66:109:99:1878,0,947	20	0	1	0
chr9	137112002	137112002	C	T	exonic	DPP7	.	nonsynonymous SNV	DPP7:NM_013379:exon10:c.G1078A:p.A360T,	.	.	.	.	.	.	.	.	.	.	.	3247917	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.153	B	0.046	B	0.589	N	1.000	N	-0.345	N	3.0	T	-0.947	T	0.009	T	0.08	0.912	8.710	0.871	-0.020	0.153	3.623	0.076	0.0147863884615	7.7e-05	.	4.148e-05	0	0	0.0001	0	6.042e-05	0	0	3.88e-05	6	154602	rs145954715	5.337e-05	5.336e-05	5.583e-05	5.089e-05	6.746e-05	4.345e-05	4.018e-05	5.51e-05	5.026e-05	0	2.237e-05	0	2.519e-05	0	0	6.746e-05	1.656e-05	0	6.575e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.207	0.19854	T	0.493	0.11443	T	0.153	0.28093	B	0.046	0.24676	B	0.589156	0.11067	N	0.787937	1	0.08975	N	-0.185	0.04235	N	3.0	0.09167	T	-0.78	0.21644	N	0.11	0.09631	-0.9469	0.41498	T	0.009	0.03315	T	10	0.08487612	0.14270	T	0.014786	0.35134	T	0.076	0.22200	.	.	0.0666544352282	0.05500	0.7898957265533059	0.78941	0.0786725316196	0.08852	0.334217905998	0.15570	T	0.003553	0.02960	T	-0.459752	0.00987	T	-0.72905	0.04370	T	0.0304899290204048	0.02066	T	0.893711	0.63166	D	0.119155824	0.28061	0.067987226	0.14139	0.119155824	0.28061	0.067987226	0.14139	-6.401	0.49517	T	.	.	0.106	0.19720	B	.	.	2.657837	0.34622	19.68	0.97466333922977322	0.34110	0.07497	0.13512	N	AEFDGBCI	0.136695	0.25744	N	-1.17749645986723	0.05341	0.2432584	-1.13904464613197	0.06966	0.3371499	0.999987207772921	0.51787	0.732398	0.92422	0	0.702456	0.74545	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	3.97	0.871	0.18244	0.121000	0.15496	0.943000	0.22867	0.597000	0.34315	0.000000	0.06391	0.166000	0.23302	0.875000	0.41745	0.2196:0.4529:0.0:0.3276	3.623	0.07646	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1186.98	82	chr9	137112002	.	C	T	1186.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.630e-01;DP=1569;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.498;SOR=0.704	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1201,0,1079	20	0	1	0
chr10	366331	366331	C	T	exonic	DIP2C	.	nonsynonymous SNV	DIP2C:NM_014974:exon19:c.G2212A:p.V738I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.002	B	0.008	B	0.000	N	1.000	N	1.355	L	2.85	T	-1.022	T	0.073	T	0.118	-0.007	3.976	3.26	0.522	0.935	2.919	0.042	0.00325468096466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.18498	T	0.216	0.26226	T	0.0	0.02946	B	0.005	0.11217	B	0.000292	0.46274	N	0.190436	1	0.08975	N	1.5	0.37844	L	2.85	0.10578	T	-0.32	0.12283	N	0.15	0.20660	-1.0223	0.22965	T	0.073	0.29578	T	10	0.14847383	0.28116	T	0.003255	0.07177	T	0.042	0.11227	0.6	0.73105	0.043077524339	0.03247	0.30096386499836275	0.30009	0.621333727136	0.56425	0.270182400942	0.06164	T	0.048516	0.28041	T	-0.302877	0.08391	T	-0.672839	0.07428	T	0.163904160261154	0.18155	T	0.818018	0.49813	T	0.03124962	0.02931	0.032308802	0.01945	0.03124962	0.02930	0.032308802	0.01945	-3.301	0.13750	T	.	.	0.066	0.03060	B	.;.;.	.;.;.	0.637825	0.10061	6.812	0.91588385084858126	0.20870	0.09927	0.15570	N	AEFDBI	0.041536	0.06327	N	-0.716011549394585	0.15571	0.7859205	-0.714721999282696	0.16594	0.8786007	0.0590110320152052	0.15147	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.35	3.26	0.36471	0.946000	0.28667	1.145000	0.24435	0.599000	0.40250	0.310000	0.25414	0.410000	0.24754	0.118000	0.19084	0.0:0.3313:0.2424:0.4264	2.919	0.05410	657	0.62240	AMP-dependent synthetase/ligase|Dip2-like domain;AMP-dependent synthetase/ligase|Dip2-like domain;AMP-dependent synthetase/ligase|Dip2-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	2465.98	34	chr10	366331	.	C	T	2465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.258;DP=901;ExcessHet=0.0000;FS=4.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-1.076e+00;SOR=0.754	GT:AD:DP:GQ:PL	0/1:111,106:217:99:2480,0,2662	20	0	1	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	0/1:81,44:125:99:243,0,1317	5	0	16	0
chr10	1363062	1363062	G	T	exonic	ADARB2	.	nonsynonymous SNV	ADARB2:NM_018702:exon3:c.C1043A:p.A348E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.203	B	0.081	B	0.361	N	1.000	N	-0.345	N	1.99	T	-1.042	T	0.017	T	0.2	-2.052	0.006	-2.81	-0.831	0.214	1.909	0.031	0.00908659791641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.472e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.203	0.29776	B	0.081	0.28987	B	0.361257	0.04305	N	1.385730	1	0.08975	N	1.24	0.30952	L	1.99	0.21666	T	-0.03	0.07444	N	0.125	0.11769	-1.0421	0.16681	T	0.017	0.06807	T	10	0.035996705	0.01876	T	0.009087	0.23917	T	0.031	0.07369	0.457	0.52265	0.123314135267	0.11883	0.2679764123111616	0.26710	1.07880436334	0.77074	0.267588078976	0.05829	T	0.00827	0.07601	T	-0.278956	0.10777	T	-0.638477	0.09780	T	0.0858684304873363	0.10720	T	0.289971	0.05268	T	0.041354667	0.06077	0.08967596	0.20984	0.041354667	0.06076	0.08967596	0.20983	-8.177	0.62270	D	.	.	0.119	0.24566	B	.	.	-0.207309	0.03053	0.472	0.54965077188408107	0.05244	0.06707	0.12728	N	AEFDBCI	0.087658	0.17773	N	-1.50619947224506	0.01808	0.07927274	-1.51218697588789	0.02250	0.1031914	0.108759266137914	0.16590	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.22	-2.81	0.05459	0.383000	0.20381	-0.373000	0.09593	-0.327000	0.05804	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4882:0.126:0.2624:0.1233	1.909	0.03084	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2290.98	40	chr10	1363062	.	G	T	2290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=922;ExcessHet=0.0000;FS=0.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-1.026e+00;SOR=0.615	GT:AD:DP:GQ:PL	0/1:67,92:159:99:2305,0,1419	20	0	1	0
chr10	7576593	7576593	C	T	exonic	ITIH5	.	nonsynonymous SNV	ITIH5:NM_032817:exon6:c.G1196A:p.R399H	.	.	429	1074	19	0	0	19	0.00876788	.	.	724067	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.025	N	1.000	N	.	.	1.59	T	-0.980	T	0.027	T	0.112	-0.651	1.134	-2.14	-0.629	1.154	11.537	0.061	0.00277705274274	0.0025	0.00119808	0.0024	0.0006	0.0009	0	0.0015	0.0032	0.0011	0.0030	0.0023027	356	154602	rs148811531	0.0025	0.0025	0.0025	0.0025	0.0071	0.0024	0.0024	0.0054	0.0048	0.0010	0.0015	0.0044	0	0.0019	0.0071	0.0026	0.0025	0.0030	0.0020	0.0020	0.0020	0.0021	0.0026	0.0019	0.0018	0.0023	0.0022	0.0008	0	0.0024	0.0055	0	0.0024	0.0034	0.0026	0.0047	0.0021	0.749	0.04864	T	0.778	0.07444	T	0.0	0.02946	B	0.0	0.01387	B	0.025196	0.26132	N	0.466802	1	0.08975	N	.	.	.	1.59	0.28836	T	1.8	0.00513	N	0.055	0.03283	-0.9800	0.35002	T	0.027	0.11663	T	9	0.010210663	0.00228	T	0.002777	0.05781	T	0.061	0.17616	.	.	0.0551355673512	0.04727	0.37570074253142405	0.37484	.	.	0.206901490688	0.00687	T	0.003161	0.02566	T	-0.64418	0.00079	T	-0.700518	0.05797	T	0.000670027541734186	0.00006	T	0.786621	0.43457	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01577	B	.;.;.	.;.;.	0.111307	0.05106	1.638	0.46584350116879147	0.03742	0.08431	0.14361	N	AEFDBI	0.150150	0.27438	N	-1.16588580509595	0.05523	0.2520297	-1.16274024222796	0.06541	0.3152244	0.773206773292317	0.23708	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.2	-2.14	0.06725	1.149000	0.31238	-2.371000	0.03838	-0.850000	0.02721	0.976000	0.34826	0.000000	0.08366	0.004000	0.06068	0.0:0.1385:0.0:0.8615	11.537	0.49894	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	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	2760.11	43	chr10	7576593	.	C	T	2760.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.040e-01;DP=1225;ExcessHet=0.1072;FS=0.519;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-1.390e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/1:38,53:91:99:1260,0,842	19	0	2	0
chr10	12001769	12001769	C	G	exonic	UPF2	.	nonsynonymous SNV	UPF2:NM_015542:exon6:c.G1561C:p.E521Q	.	.	441	1077	4	0	0	4	0.00185357	.	.	701215	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.241	B	0.136	B	0.000	D	1.000	D	1.39	L	1.97	T	-1.116	T	0.040	T	0.33	3.169	16.60	5.41	2.706	6.985	19.153	0.055	0.0115735380545	0.0052	0.00179712	0.0047	0.0012	0.0024	0	0.0009	0.0075	0.0023	0.0014	0.0046765	723	154602	rs118004016	0.0061	0.0061	0.0062	0.0059	0.0073	0.0060	0.0059	0.0071	0.0071	0.0010	0.0024	0.0054	0	0.0017	0.0026	0.0073	0.0053	0.0009	0.0039	0.0040	0.0044	0.0035	0.0069	0.0037	0.0036	0.0064	0.0062	0.0014	0	0.0018	0.0063	0.0002	0.0009	0	0.0069	0.0028	0.0010	0.135	0.26192	T	0.102	0.38450	T	0.155	0.28155	B	0.064	0.27215	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	1.97	0.22067	T	-1.37	0.33998	N	0.276	0.31365	-1.1157	0.02622	T	0.040	0.17277	T	10	0.008239508	0.00187	T	0.011574	0.29327	T	0.055	0.15663	.	.	0.445544589891	0.44177	0.41234901816517877	0.41150	0.659821582233	0.58827	0.677614569664	0.63926	T	0.048488	0.28032	T	-0.442075	0.01257	T	-0.403641	0.32960	T	0.0393251865609451	0.03568	T	0.911809	0.68723	D	0.2728143	0.50350	0.18171048	0.41052	0.2728143	0.50350	0.18171048	0.41051	-5.506	0.41923	T	.	.	0.375	0.58126	A	.;.;.	.;.;.	3.952703	0.57923	23.9	0.99422475987950754	0.63838	0.99389	0.95397	D	AEFBI	0.719506	0.67037	D	0.159163047645419	0.49246	3.127194	0.329092725220834	0.57255	3.89066	0.999995406938031	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.41	5.41	0.78313	6.821000	0.75062	6.001000	0.52488	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.153	0.93480	616	0.66398	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1080.98	35	chr10	12001769	.	C	G	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.390e-01;DP=794;ExcessHet=0.0000;FS=3.498;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=-8.200e-02;SOR=0.439	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1095,0,1419	20	0	1	0
chr10	12998442	12998442	-	T	exonic	CCDC3	.	frameshift insertion	CCDC3:NM_031455:exon2:c.444dupA:p.E149Rfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	753.94	35	chr10	12998442	.	C	CT	753.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-01;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.57;ReadPosRankSum=-3.950e-01;SOR=0.598	GT:AD:DP:GQ:PL	0/1:59,29:88:99:768,0,1829	20	0	1	0
chr10	17965658	17965658	C	T	exonic	SLC39A12	.	nonsynonymous SNV	SLC39A12:NM_001282734:exon3:c.C317T:p.S106F	.	.	0	225	1	0	0	1	0.00221729	.	.	3329141	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.008	B	0.023	B	0.018	N	0.969	N	0.715	N	0.03	T	-1.023	T	0.120	T	0.16	-1.247	0.052	1.3	-0.048	1.150	9.173	0.033	0.00661248599983	.	0.000199681	8.26e-06	0	0	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs565046397	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	0	0	2.698e-06	1.656e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.781	0.03392	T	0.748	0.04842	T	0.006	0.14655	B	0.008	0.19966	B	0.018490	0.27471	N	0.429139	0.968825	0.25783	N	0.295	0.10161	N	-0.05	0.64264	T	-1.74	0.41239	N	0.182	0.24883	-1.0226	0.22866	T	0.120	0.41843	T	10	0.05986923	0.07264	T	0.006612	0.17444	T	0.033	0.08068	0.386	0.40624	0.139678290688	0.13603	0.34401809535962136	0.34315	0.0241457992308	0.02455	0.341167330742	0.16612	T	0.006713	0.06137	T	-0.219857	0.18012	T	-0.48994	0.23397	T	0.0176755131308739	0.00499	T	0.781422	0.41649	T	0.045433775	0.07435	0.06334727	0.12534	0.045433775	0.07434	0.06334727	0.12534	-5.682	0.43533	T	.	.	0.078	0.10111	B	.;.;.;.	.;.;.;.	0.941344	0.13168	9.671	0.1321388255939808	0.00253	0.52460	0.29137	D	AEFDI	0.065223	0.12711	N	-0.825870487356639	0.12650	0.6180332	-0.711420770583789	0.16676	0.8833256	1.53165229337004E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	1.3	0.20778	1.184000	0.31663	1.807000	0.28930	-0.313000	0.06017	0.967000	0.34061	0.971000	0.29754	0.084000	0.17470	0.0:0.5556:0.0:0.4444	9.173	0.36254	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	1	0	0	0	0.02381	625.98	37	chr10	17965658	.	C	T	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=776;ExcessHet=0.0000;FS=3.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.48;ReadPosRankSum=-1.246e+00;SOR=1.167	GT:AD:DP:GQ:PL	0/1:39,27:66:99:640,0,955	20	0	1	0
chr10	19280124	19280124	A	C	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon20:c.A3157C:p.N1053H,	.	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	-3.8	D	-0.031	T	0.710	D	0.049	2.525	14.40	-4.77	-0.706	-0.393	7.515	0.169	.	.	0.00279553	0.0041	0	0	0	0	0	0	0.0102	0.000608	94	154602	rs574597600	0.0007	0.0007	0.0004	0.0010	0.0106	0.0007	0.0006	0.0100	0.0098	0	0	0	0.0001	0	0.0014	4.455e-05	0.0013	0.0106	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	0	0	0.0001	0	0.0006	0	0	4.41e-05	0.0009	0.0114	0.077	0.34095	T	0.053	0.47336	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-3.8	0.95696	D	-2.23	0.50012	N	0.198	0.21839	-0.0307	0.81616	T	0.710	0.90046	D	5	0.007387638	0.00168	T	.	.	.	0.169	0.43123	.	.	0.479668003354	0.47597	0.23483198360211316	0.23398	.	.	.	.	.	.	.	.	-0.4297	0.01489	T	-0.383046	0.35366	T	0.0349221734059856	0.02795	T	0.377362	0.09032	T	0.045191597	0.07355	0.087837264	0.20442	0.045191597	0.07355	0.087837264	0.20442	-8.327	0.63277	D	.	.	0.084	0.10979	B	.;.	.;.	-0.117283	0.03540	0.677	0.98317798712224336	0.40212	0.03517	0.08699	N	AEFI	0.114549	0.22558	N	-0.634009701347622	0.17930	0.9267867	-0.787671871901121	0.14797	0.7750621	0.00116447144121819	0.08293	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.49	-4.77	0.02985	-0.632000	0.05587	-1.779000	0.04742	0.743000	0.86499	0.000000	0.06391	0.000000	0.08366	0.928000	0.46473	0.425:0.219:0.3561:0.0	7.515	0.26766	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	592.98	35	chr10	19280124	.	A	C	592.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.462e+00;DP=767;ExcessHet=0.0000;FS=1.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.726;SOR=0.503	GT:AD:DP:GQ:PL	0/1:26,25:51:99:607,0,694	20	0	1	0
chr10	24543815	24543815	A	C	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_019590:exon19:c.A4545C:p.Q1515H,	.	.	426	1092	4	0	0	4	0.00182815	.	.	2336819	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.846	P	0.465	P	0.558	N	1.000	N	1.1	L	1.91	T	-0.985	T	0.077	T	0.074	2.119	13.04	0.823	-0.118	0.227	9.773	0.059	0.0139899106435	0.0002	.	0.0002	0	0.0004	0	0	0.0002	0	0.0002	0.0001423	22	154602	rs141343728	0.0001	0.0001	0.0001	0.0002	0.0062	0.0001	0.0001	0.0046	0.0041	0.0001	0.0005	0	0	0	0.0062	0.0001	0.0005	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	0	0	0.0004	0	0	0	0.0136	0.0003	0.0009	0.0002	0.122	0.27663	T	0.151	0.32355	T	0.755	0.46778	P	0.465	0.46596	P	0.558033	0.05408	N	1.229040	1	0.08975	N	2.045	0.56016	M	1.91	0.31205	T	0.36	0.04947	N	0.098	0.08925	-0.9853	0.33760	T	0.077	0.30920	T	10	0.04715109	0.03996	T	0.01399	0.33799	T	0.059	0.16972	0.16	0.06396	0.344017737713	0.34012	0.18654690842617375	0.18572	0.307317501305	0.33031	0.209153756499	0.00776	T	0.067832	0.33303	T	-0.555539	0.00270	T	-0.677189	0.07156	T	0.0197423976264534	0.00676	T	0.669833	0.27843	T	0.034113314	0.03764	0.040042978	0.04236	0.034113314	0.03764	0.040042978	0.04236	-4.081	0.25819	T	.	.	0.147	0.32541	B	.;.	.;.	1.351405	0.17589	13.25	0.95896564359609093	0.28117	0.20460	0.21049	N	AEFDBCI	0.209405	0.33539	N	-0.755424699966197	0.14486	0.7220121	-0.881731736427252	0.12526	0.6448887	0.775935463927443	0.23752	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.46	0.823	0.17950	0.741000	0.25870	0.705000	0.20878	-1.292000	0.01254	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.5161:0.0:0.4839:0.0	9.773	0.39771	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	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	1743.98	40	chr10	24543815	.	A	C	1743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.660e-01;DP=1310;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=0.650;SOR=0.754	GT:AD:DP:GQ:PL	0/1:60,66:126:99:1758,0,1524	20	0	1	0
chr10	29490860	29490860	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon20:c.G2901A:p.M967I	.	.	436	991	95	0	0	95	0.045739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.04	B	0.014	B	0.000	D	1.000	D	1.485	L	2.86	T	-0.383	T	0.441	T	0.498	0.749	7.970	2.98	0.848	5.444	11.369	0.196	.	.	.	0.0030	0.0008	0.0003	0.0003	0.0025	0.0015	0.0045	0.0140	3.84e-05	1	26028	rs757300194	2.794e-05	0.0018	1.94e-05	3.66e-05	0.0001	2.106e-05	1.854e-05	6.565e-05	4.989e-05	3.027e-05	4.616e-05	0.0001	5.135e-05	0	0	1.92e-05	1.694e-05	0.0001	2.02e-05	0.0009	2.624e-05	1.383e-05	3.009e-05	5.37e-06	2.49e-06	4.99e-06	1.87e-06	0	0	0	0	0	9.783e-05	0	3.009e-05	0	0	0.251	0.26300	T	0.338	0.19188	T	0.001	0.21238	B	0.002	0.16862	B	0.000000	0.84330	D	0.080390	0.999644	0.48019	D	1.275	0.32135	L	2.83	0.10771	T	-2.01	0.47683	N	0.833	0.82862	-0.3829	0.72561	T	0.441	0.77934	T	10	0.01062569	0.00236	T	.	.	.	0.196	0.47777	0.315	0.29096	0.102598925029	0.09809	0.5538617382080628	0.55312	0.32964423376	0.35070	0.654423296452	0.60614	T	0.043114	0.26399	T	-0.123078	0.32621	T	-0.41457	0.31698	T	0.0747122019529343	0.09297	T	0.89841	0.64469	D	0.29034367	0.52024	0.28399682	0.54395	0.29034367	0.52024	0.28399682	0.54394	-10.193	0.75058	D	0.16825139534427275	0.21027	0.460	0.69288	A	.;.;.	.;.;.	3.963416	0.58142	23.9	0.74794420715289511	0.10829	0.96717	0.70563	D	AEFDGBI	0.421191	0.48771	N	-0.482251454692371	0.22663	1.211673	-0.409489271843162	0.24719	1.355184	0.986166000563011	0.31015	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.88	2.98	0.33575	5.584000	0.67185	6.001000	0.52488	0.449000	0.21268	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9105:0.0:0.0895	11.369	0.48927	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	228.28	102	chr10	29490860	.	C	T	228.28	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.15;DP=1424;ExcessHet=0.6776;FS=23.683;InbreedingCoeff=-0.0944;MLEAC=3;MLEAF=0.071;MQ=58.34;MQRankSum=-1.102e+01;QD=0.45;ReadPosRankSum=-4.118e+00;SOR=2.883	GT:AD:DP:GQ:PL	0/1:90,13:103:99:171,0,2543	17	0	4	0
chr10	48743001	48743001	C	T	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_001370153:exon12:c.C1912T:p.R638C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.995	D	0.446	B	.	.	1.000	D	2.045	M	0.55	T	-0.503	T	0.203	T	0.544	4.235	22.0	5.38	2.687	5.278	18.490	0.274	0.0210438739144	.	0.000798722	0.0001	0	0	0.0037	0	0	0.0043	0	8.41e-05	13	154602	rs148252819	0.0002	0.0002	0.0002	0.0002	0.0064	0.0002	0.0002	0.0058	0.0055	0	2.801e-05	0	0.0064	0	0	5.562e-06	0.0006	3.787e-05	0.0002	0.0002	0.0002	0.0003	0.0070	0.0002	0.0002	0.0052	0.0046	0	0	6.539e-05	0	0.0070	0	0	0	0	0	0.0	0.91255	D	0.003	0.76473	D	0.995	0.67487	D	0.446	0.45959	B	.	.	.	.	0.601348	0.32541	D	2.095	0.58118	M	0.55	0.54728	T	-5.58	0.86450	D	0.266	0.30118	-0.5034	0.68527	T	0.203	0.56087	T	8	0.0079832375	0.00181	T	0.021044	0.43757	T	0.274	0.59007	.	.	0.465464902746	0.46175	0.5138848107500441	0.51310	.	.	0.314360737801	0.12566	T	0.240399	0.60871	T	-0.330352	0.06085	T	-0.237909	0.51002	T	0.213245000141729	0.21122	T	0.89891	0.64583	D	0.41952437	0.62060	0.41268754	0.65464	0.41952437	0.62061	0.41268754	0.65464	-7.075	0.54580	T	.	.	0.114	0.22717	B	.	.	4.306019	0.65784	24.9	0.99936301597735078	0.99621	0.92126	0.55002	D	AEFBI	0.595852	0.59024	D	0.53613356060736	0.69242	5.329252	0.572226561163548	0.72955	5.89225	0.999996827438814	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.38	5.38	0.77279	5.296000	0.65493	5.937000	0.51416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.490	0.90792	946	0.12043	.	.	.	.	.	.	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	1215.98	36	chr10	48743001	.	C	T	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=799;ExcessHet=0.0000;FS=2.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=-2.310e-01;SOR=1.031	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1230,0,1308	20	0	1	0
chr10	49941641	49941641	G	A	exonic	PARG	.	nonsynonymous SNV	PARG:NM_003631:exon1:c.C85T:p.R29W,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.919e-07	5.472e-06	1.373e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.675e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.51112	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.895	0.22405	L	.	.	.	.	.	.	0.305	0.36254	.	.	.	.	.	.	.	0.13407177	0.25517	T	.	.	.	.	.	.	.	0.453307948783	0.44952	0.3171780186858065	0.31630	.	.	0.799564838409	0.81897	T	0.079441	0.36128	T	0.151388	0.69397	D	-0.0203184	0.69008	D	.	.	.	0.907609	0.67324	D	0.30716577	0.53539	0.33888376	0.59661	0.30716577	0.53539	0.33888376	0.59660	-5.673	0.43452	T	.	.	0.203	0.42777	B	.;.	.;.	4.992573	0.82778	27.9	0.98437734877989025	0.41475	0.53263	0.29329	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.996420792596447	0.34736	0.164513	0.03853	0	0.097471	0.02872	0	0.183335	0.04453	0	0.101684	0.03063	0	0.307312	0.35014	2.57	2.57	0.29928	5.201000	0.64999	7.455000	0.58998	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	8.711	0.33546	756	0.51065	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2190.98	41	chr10	49941641	.	G	A	2190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.42;MQRankSum=0.735;QD=13.61;ReadPosRankSum=-1.354e+00;SOR=0.675	GT:AD:DP:GQ:PL	0/1:73,88:161:99:2205,0,1650	20	0	1	0
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.996	D	0.907	P	0.000	D	1.000	D	1.735	L	.	.	-0.695	T	0.262	T	0.334	2.165	13.20	3.2	1.510	3.070	10.264	0.051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0028	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	2.474e-05	0.0002	7.586e-05	0	0.0005	0.0006	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.10016841	0.18224	T	0.007039	0.18649	T	0.051	0.14325	0.155	0.05858	0.043077524339	0.03247	0.022149042639061214	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.02398	0.48284	T	-0.272222	0.47596	T	0.870236992835999	0.52015	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.655948	0.92841	33	0.99770114452793413	0.85834	0.83358	0.42481	D	AEFI	0.285651	0.39823	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	0.2778	675.31	121	chr10	50104143	.	G	A,C,T	675.31	.	AC=2,2,1;AF=0.111,0.111,0.056;AN=18;BaseQRankSum=-2.477e+00;DP=1231;ExcessHet=1.3000;FS=169.836;InbreedingCoeff=-0.3611;MLEAC=3,3,2;MLEAF=0.167,0.167,0.111;MQ=56.88;MQRankSum=0.493;QD=1.49;ReadPosRankSum=1.92;SOR=9.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:39,0,12,0:51:69:0|1:50104141_G_C:69,184,1474,0,1289,1255,184,1474,1289,1474:50104141	4	0	2	12
chr10	50104143	50104143	G	T	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737T:p.E579D	.	.	.	.	.	.	.	.	.	1.0000	0.992	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.996	D	0.907	P	0.000	D	1.000	D	1.735	L	.	.	-0.695	T	0.262	T	0.334	2.225	13.40	3.2	1.510	3.070	10.264	0.052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.707e-07	6.36e-06	0	1.541e-06	1.03e-06	0	0	.	.	0	0	0	0	0	0	1.03e-06	0	0	0	1.327e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.101569474	0.18565	T	0.007221	0.19143	T	0.052	0.14661	0.155	0.05858	0.043077524339	0.03247	0.022149028868026752	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.0239667	0.48286	T	-0.272203	0.47596	T	0.882602095603943	0.53273	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.651825	0.92816	33	0.99780184817050044	0.86693	0.87410	0.46941	D	AEFI	0.330757	0.43070	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	0.2778	675.31	121	chr10	50104143	.	G	A,C,T	675.31	.	AC=2,2,1;AF=0.111,0.111,0.056;AN=18;BaseQRankSum=-2.477e+00;DP=1231;ExcessHet=1.3000;FS=169.836;InbreedingCoeff=-0.3611;MLEAC=3,3,2;MLEAF=0.167,0.167,0.111;MQ=56.88;MQRankSum=0.493;QD=1.49;ReadPosRankSum=1.92;SOR=9.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:39,0,12,0:51:69:0|1:50104141_G_C:69,184,1474,0,1289,1255,184,1474,1289,1474:50104141	4	0	2	12
chr10	50104144	50104144	G	C	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>C;NM_001330102:exon18:c.1737+1G>C;NM_001005751:exon18:c.1737+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.001	9.087	3.2	1.510	4.613	10.264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0025	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	9.413e-05	0	0.0001	2.532e-05	1.95e-05	0.0003	0.0003	5.495e-05	6.154e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00234647	0.51330	T	-0.241147	0.50686	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.902203	0.94003	33	0.97352760042827002	0.33529	0.93131	0.57407	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	379.87	78	chr10	50104144	.	G	C,A	379.87	.	AC=2,2;AF=0.071,0.071;AN=28;BaseQRankSum=-2.776e+00;DP=1181;ExcessHet=0.7564;FS=263.402;InbreedingCoeff=-0.2209;MLEAC=3,2;MLEAF=0.107,0.071;MQ=56.92;MQRankSum=0.493;QD=1.07;ReadPosRankSum=0.796;SOR=8.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:39,0,12:51:69:0|1:50104141_G_C:69,184,1474,0,1289,1255:50104141	10	0	2	7
chr10	50104144	50104144	G	A	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>A;NM_001330102:exon18:c.1737+1G>A;NM_001005751:exon18:c.1737+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.121	9.572	3.2	1.510	4.613	10.264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0463318	0.57869	T	-0.171224	0.57330	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.720867	0.93226	33	0.97432250228662731	0.33931	0.91899	0.54504	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	379.87	78	chr10	50104144	.	G	C,A	379.87	.	AC=2,2;AF=0.071,0.071;AN=28;BaseQRankSum=-2.776e+00;DP=1181;ExcessHet=0.7564;FS=263.402;InbreedingCoeff=-0.2209;MLEAC=3,2;MLEAF=0.107,0.071;MQ=56.92;MQRankSum=0.493;QD=1.07;ReadPosRankSum=0.796;SOR=8.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:39,0,12:51:69:0|1:50104141_G_C:69,184,1474,0,1289,1255:50104141	10	0	2	7
chr10	53808927	53808928	TC	-	exonic	PCDH15	.	frameshift deletion	PCDH15:NM_001354411:exon35:c.5116_5117del:p.E1706Kfs*5,	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.911e-05	0	0	0	0	5.948e-05	0	0.0001	1.94e-05	3	154602	rs775054636	4.945e-06	5.472e-06	1.397e-06	8.575e-06	8.688e-05	2.06e-06	1.32e-06	4.002e-05	2.814e-05	0	0	0	0	0	0	0	0	8.688e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4440.94	36	chr10	53808926	.	TTC	T	4440.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=922;ExcessHet=0.0000;FS=1.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.48;ReadPosRankSum=0.698;SOR=0.698	GT:AD:DP:GQ:PL	0/1:113,115:228:99:4455,0,4319	20	0	1	0
chr10	71806223	71806223	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon10:c.C1400T:p.P467L	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	.	0	1503	19	0	0	19	0.00628099	.	.	752240	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.46	T	1.0	D	0.993	D	0.000	D	1.000	D	-0.035	N	0.24	T	-0.763	T	0.206	T	0.871	5.467	35	5.13	2.400	7.786	18.577	0.335	.	.	0.00279553	0.0030	0	0.0008	0	0	0.0003	0	0.0104	0.0009573	148	154602	rs373230009	0.0006	0.0007	0.0004	0.0009	0.0093	0.0006	0.0006	0.0087	0.0085	0	0.0003	0	0	0	0.0042	6.486e-05	0.0009	0.0093	0.0004	0.0004	0.0003	0.0004	0.0083	0.0003	0.0003	0.0063	0.0055	2.406e-05	0	0.0003	0	0.0006	0	0.0034	5.881e-05	0.0005	0.0083	0.03	0.45393	D	0.003	0.76473	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.725	0.01781	N	0.24	0.59583	T	-2.23	0.50012	N	0.972	0.98268	-0.7626	0.57264	T	0.206	0.56485	T	10	0.010227531	0.00228	T	.	.	.	0.335	0.65718	0.44	0.49484	0.865627351664	0.86432	0.6866559061639508	0.68605	0.296736206452	0.32059	0.759593367577	0.75868	T	0.02799	0.58006	T	-0.0948292	0.37278	T	0.0975471	0.76745	D	0.0676290445450662	0.08315	T	0.958604	0.84374	D	0.4887914	0.66431	0.3310389	0.58967	0.45600507	0.64422	0.29566696	0.55598	-5.729	0.47793	T	.	.	0.148	0.38390	B	.;.;.;.	.;.;.;.	5.020994	0.83447	28.0	0.99899295886099915	0.97124	0.92335	0.55474	D	AEFDGBHCI	0.948946	0.96110	D	0.420765350813866	0.62566	4.47446	0.484984844637473	0.66993	5.025127	1.0	0.98316	0.56387	0.32371	0	0.491513	0.07743	0	0.503968	0.08637	0	0.562822	0.20929	0	.	.	5.13	5.13	0.69729	7.869000	0.85513	4.840000	0.45276	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.577	0.91115	791	0.46100	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	2334.98	38	chr10	71806223	.	C	T	2334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.110e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.875;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,59:98:99:0|1:71806223_C_T:2349,0,1460:71806223	20	0	1	0
chr10	71810506	71810506	C	G	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon15:c.C2294G:p.A765G	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	.	0	1502	19	0	1	20	0.00628515	.	.	229902	Usher_syndrome_type_1|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D|not_specified	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.43	T	0.002	B	0.002	B	0.001	N	1.000	D	1.61	L	0.37	T	-0.956	T	0.158	T	0.434	2.925	15.75	5.67	2.686	3.213	19.761	0.132	.	.	0.00279553	0.0014	0	0.0005	0.0001	0	7.506e-05	0	0.0098	0.0012484	193	154602	rs188966938	0.0007	0.0007	0.0004	0.0009	0.0095	0.0006	0.0006	0.0090	0.0087	0	0.0002	0	0	0	0.0042	6.386e-05	0.0009	0.0095	0.0003	0.0003	0.0003	0.0004	0.0083	0.0003	0.0002	0.0063	0.0055	0	0	0.0003	0	0.0002	0	0.0034	5.882e-05	0.0005	0.0083	0.09	0.31987	T	0.0	0.92824	D	0.002	0.09854	B	0.002	0.06944	B	0.001150	0.40056	N	0.207044	0.999995	0.58761	D	1.61	0.41143	L	0.37	0.57729	T	-1.71	0.40660	N	0.593	0.62696	-0.9556	0.39988	T	0.158	0.49094	T	10	0.008377165	0.00190	T	.	.	.	0.132	0.35948	.	.	0.745349639804	0.74305	0.34334484325574466	0.34248	0.2100548403	0.23481	0.697732031345	0.66816	T	0.007964	0.42196	T	-0.391431	0.02633	T	-0.327648	0.41731	T	0.028044143335165	0.01694	T	0.880112	0.59716	D	0.12058347	0.28372	0.2079746	0.45079	0.13911167	0.32146	0.22425441	0.47330	-6.718	0.53092	T	.	.	0.237	0.47128	B	.;.;.;.	.;.;.;.	3.218561	0.43840	21.8	0.99538915635684622	0.70398	0.86109	0.45329	D	AEFDBCI	0.538368	0.55579	D	-0.0761480775168596	0.38442	2.251477	0.0955146348702413	0.44321	2.716241	0.999999999795303	0.74766	0.554377	0.28877	0	0.514364	0.08380	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.67	5.67	0.87673	3.284000	0.51413	7.651000	0.63703	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.799000	0.37691	0.0:1.0:0.0:0.0	19.761	0.96312	785	0.46916	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1266.98	36	chr10	71810506	.	C	G	1266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.538;DP=881;ExcessHet=0.0000;FS=1.334;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=-1.071e+00;SOR=0.830	GT:AD:DP:GQ:PL	0/1:89,57:146:99:1281,0,2116	20	0	1	0
chr10	71811550	71811550	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon17:c.G2518A:p.A840T	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	.	0	1503	19	0	0	19	0.00628099	.	.	229903	Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|not_provided|Usher_syndrome_type_1D|not_specified	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MedGen:C3661900|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.016	B	0.002	B	0.000	D	1.000	D	1.245	L	0.24	T	-0.922	T	0.145	T	0.354	2.430	14.08	4.46	1.280	5.688	10.628	0.133	.	7.8e-05	0.00299521	0.0015	0	0.0005	0.0007	0	7.494e-05	0	0.0099	0.0013066	202	154602	rs369395479	0.0007	0.0007	0.0005	0.0010	0.0095	0.0007	0.0007	0.0090	0.0088	5.974e-05	0.0002	0	0.0005	0	0.0042	0.0001	0.0009	0.0095	0.0004	0.0004	0.0003	0.0004	0.0085	0.0003	0.0003	0.0064	0.0057	4.817e-05	0	0.0003	0	0.0004	0	0.0034	8.824e-05	0.0009	0.0085	0.316	0.13744	T	0.108	0.38891	T	0.016	0.17332	B	0.002	0.06944	B	0.000051	0.53742	D	0.072195	0.999902	0.50806	D	1.295	0.32453	L	0.24	0.59583	T	-1.79	0.42191	N	0.45	0.48780	-0.9216	0.45334	T	0.145	0.46859	T	10	0.008137375	0.00185	T	.	.	.	0.133	0.36157	.	.	0.777339287198	0.77529	0.7024125172313511	0.70182	0.174077167911	0.19599	0.457005262375	0.32900	T	0.016806	0.59237	T	-0.387317	0.02800	T	-0.321596	0.42400	T	0.0386353492225009	0.03444	T	0.816218	0.47186	T	0.051676724	0.09526	0.13800593	0.32971	0.04183747	0.06234	0.12340108	0.29756	-6.772	0.53299	T	.	.	0.107	0.20117	B	.;.;.;.	.;.;.;.	3.374855	0.46651	22.3	0.98528525038825709	0.42558	0.84584	0.43667	D	AEFDBCI	0.610479	0.59930	D	-0.255459950207905	0.30885	1.726467	-0.103550876891836	0.35246	2.036932	0.99999752825339	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.562822	0.20929	0	.	.	5.36	4.46	0.53567	5.805000	0.68809	8.594000	0.77699	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0701:0.0:0.7984:0.1315	10.628	0.44712	787	0.46738	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	2777.98	36	chr10	71811550	.	G	A	2777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=888;ExcessHet=0.0000;FS=1.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=1.05;SOR=0.593	GT:AD:DP:GQ:PL	0/1:75,105:180:99:2792,0,1693	20	0	1	0
chr10	73240981	73240981	G	0	exonic	FAM149B1	.	.	.	.	.	431	911	149	5	26	185	0.0802625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11177.05	95	chr10	73240981	.	G	A,*	11177.05	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=1.81;DP=1346;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.347;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,24,0:79:99:.:.:496,0,1299,660,1371,2031	11	2	6	0
chr10	87009537	87009537	C	T	exonic	AGAP11	.	nonsynonymous SNV	AGAP11:NM_133447:exon12:c.C1285T:p.R429W,	.	.	417	1102	3	0	0	3	0.00135931	.	.	2338832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0004	0.0008	0.0009	0	0	0.0004	0.0011	6.058e-05	0.000401	62	154602	rs190063080	0.0007	0.0007	0.0008	0.0007	0.0020	0.0007	0.0007	0.0011	0.0008	0.0003	0.0009	0	2.519e-05	0	0.0020	0.0008	0.0007	0.0003	0.0007	0.0007	0.0007	0.0006	0.0021	0.0006	0.0005	0.0015	0.0013	0.0005	0	0.0021	0	0	0	0	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2308.98	36	chr10	87009537	.	C	T	2308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.571;DP=928;ExcessHet=0.0000;FS=2.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.47;MQRankSum=-9.360e-01;QD=15.92;ReadPosRankSum=0.835;SOR=0.596	GT:AD:DP:GQ:PL	0/1:59,86:145:99:2323,0,1460	20	0	1	0
chr10	94321979	94321979	G	C	exonic	PLCE1	.	nonsynonymous SNV	PLCE1:NM_001165979:exon29:c.G5497C:p.V1833L	Nephrotic syndrome, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.78	P	0.73	P	0.000	D	1.000	D	2.25	M	1.01	T	-0.672	T	0.244	T	0.579	5.028	29.7	5.83	2.759	7.469	19.730	0.205	0.0189235685289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.014	0.62352	D	0.78	0.44271	P	0.73	0.55268	P	0.000105	0.50451	D	0.132195	0.999986	0.81001	D	2.63	0.76995	M	1.01	0.41058	T	-2.25	0.52289	N	0.751	0.75009	-0.6717	0.61752	T	0.244	0.61213	T	10	0.5467353	0.64026	D	0.018924	0.41136	T	0.205	0.49236	0.543	0.65589	0.747070109847	0.74478	0.6048592940422401	0.60416	1.26695969164	0.82193	0.633597254753	0.57656	T	0.324846	0.69562	T	0.0042755	0.52243	T	-0.231635	0.51614	T	0.976579189300537	0.71442	D	0.954005	0.82493	D	0.69014084	0.77519	0.7079017	0.82775	0.69014084	0.77521	0.7079017	0.82776	-9.498	0.70846	D	0.738298696403825	0.82029	0.949	0.88272	P	.;.;.	.;.;.	4.423125	0.68520	25.2	0.99781410050862995	0.86780	0.95019	0.63143	D	AEFBCI	0.891921	0.82836	D	0.680198785122773	0.78336	6.850791	0.729936823902677	0.84651	8.351917	0.999992690520154	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.83	5.83	0.93059	7.588000	0.81905	11.837000	0.97708	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.730	0.96172	390	0.83257	Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) 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	1063.98	33	chr10	94321979	.	G	C	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.328;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=1.91;SOR=0.706	GT:AD:DP:GQ:PL	0/1:59,45:104:99:1078,0,1487	20	0	1	0
chr10	94576686	94576686	A	G	exonic	HELLS	.	nonsynonymous SNV	HELLS:NM_001289073:exon9:c.A499G:p.T167A	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Autosomal recessive	.	452	1056	14	0	0	14	0.00658514	.	.	752336	not_provided|HELLS-related_disorder|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_4	MedGen:C3661900|.|MONDO:MONDO:0014829,MedGen:C4310798,OMIM:616911,Orphanet:2268	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.003	B	0.005	B	0.055	N	1.000	D	0.965	L	-3.19	D	-0.191	T	0.604	D	0.041	1.603	11.32	2.16	0.708	0.858	7.595	0.168	0.0730283883578	0.0002	.	0.0006	0	0.0004	0	0	0.0006	0.0011	0.0022	0.000511	79	154602	rs200482346	0.0004	0.0004	0.0003	0.0005	0.0038	0.0003	0.0003	0.0028	0.0027	0	0.0002	0.0020	0	0	0.0038	0.0001	0.0005	0.0031	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	4.812e-05	0	6.539e-05	0.0017	0	0	0.0034	0.0002	0.0005	0.0037	0.201	0.42487	T	0.292	0.25061	T	0.0	0.11197	B	0.004	0.10090	B	0.054652	0.22707	N	0.505809	1	0.81001	D	0.425	0.12573	N	-3.19	0.93170	D	-2.32	0.51478	N	0.087	0.08925	-0.1907	0.77910	T	0.604	0.85928	D	10	0.0170556	0.00362	T	0.073028	0.71685	D	0.168	0.42943	.	.	0.681506863636	0.67879	0.3712274698646387	0.37036	0.636122681632	0.57407	0.325754880905	0.14292	T	0.495773	0.92041	T	-0.390644	0.02664	T	-0.338525	0.40512	T	0.0119638062532283	0.00188	T	0.835416	0.50550	T	0.03720082	0.04723	0.07002862	0.14827	0.040155202	0.05680	0.05558333	0.09775	-5.179	0.38728	T	.	.	0.072	0.27821	B	.;.;.;.;.	.;.;.;.;.	1.849838	0.23498	16.04	0.96561619739867388	0.30261	0.23141	0.21979	N	AEFBCI	0.065498	0.12778	N	-0.551460998804747	0.20438	1.077405	-0.456556647763463	0.23363	1.273679	1.05620275344309E-4	0.05123	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.91	2.16	0.26663	0.907000	0.28154	4.591000	0.43958	0.756000	0.94297	0.040000	0.20979	1.000000	0.68203	0.995000	0.73285	0.7358:0.0:0.2642:0.0	7.595	0.27209	583	0.69484	SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-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	1	0	0	0	0	0	0	0.02381	824.98	33	chr10	94576686	.	A	G	824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.000e-02;DP=785;ExcessHet=0.0000;FS=0.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.42;ReadPosRankSum=1.29;SOR=0.586	GT:AD:DP:GQ:PL	0/1:61,37:98:99:839,0,1569	20	0	1	0
chr10	100490238	100490238	C	G	exonic	SEC31B	.	nonsynonymous SNV	SEC31B:NM_015490:exon21:c.G2735C:p.G912A,	.	.	424	1094	3	1	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.005	B	0.009	B	0.114	N	1.000	N	1.265	L	0.67	T	-1.031	T	0.084	T	0.097	-0.178	3.133	2.53	0.245	1.090	4.186	0.025	0.00742358848357	7.7e-05	.	6.671e-05	0	8.711e-05	0	0.0002	9.063e-05	0	0	5.17e-05	8	154602	rs372086301	6.09e-05	6.088e-05	6.672e-05	5.502e-05	0.0012	5.029e-05	4.673e-05	0.0006	0.0004	0	2.239e-05	0	0	0.0001	0.0012	6.206e-05	6.624e-05	1.16e-05	5.921e-05	5.911e-05	5.146e-05	6.733e-05	8.826e-05	3.081e-05	2.213e-05	3.764e-05	2.576e-05	0	0	0	0	0	0.0003	0	8.826e-05	0	0	0.281	0.15458	T	0.516	0.10607	T	0.005	0.12996	B	0.004	0.10090	B	0.114424	0.19275	N	0.570411	1	0.08975	N	2.175	0.60977	M	0.67	0.52187	T	-0.65	0.18877	N	0.183	0.19861	-1.0314	0.20002	T	0.084	0.32843	T	10	0.03805819	0.02199	T	0.007424	0.19685	T	0.025	0.05312	.	.	0.0884992946249	0.08302	0.2939726826192717	0.29310	0.0347712706754	0.03660	0.324701488018	0.14134	T	0.002123	0.01528	T	-0.373913	0.03401	T	-0.570326	0.15420	T	0.0392155815356565	0.03548	T	0.616838	0.23625	T	0.023508457	0.01096	0.02889795	0.01170	0.023508457	0.01096	0.02889795	0.01170	-3.839	0.21388	T	.	.	0.076	0.05890	B	.	.	0.679988	0.10482	7.201	0.64601521857436928	0.07539	0.13513	0.17898	N	AEFDBI	0.050134	0.08733	N	-0.967933155960505	0.09295	0.4392942	-0.962636152752117	0.10631	0.5366645	0.543444094744224	0.21272	0.706548	0.73137	0	0.724815	0.89359	0	0.687403	0.62504	0	0.635551	0.53088	0	.	.	5.48	2.53	0.29594	1.243000	0.32370	1.586000	0.27502	-0.182000	0.10109	0.009000	0.18154	0.005000	0.19230	0.192000	0.21661	0.1635:0.5927:0.1579:0.0859	4.186	0.09859	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	0	0	0	0	0.02381	1169.98	34	chr10	100490238	.	C	G	1169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.869;DP=895;ExcessHet=0.0000;FS=15.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.75;ReadPosRankSum=-3.029e+00;SOR=1.629	GT:AD:DP:GQ:PL	0/1:95,56:151:99:1184,0,2322	20	0	1	0
chr10	102144271	102144271	C	T	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon7:c.C3572T:p.P1191L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.001	B	0.001	B	0.156	N	1.000	D	0	N	2.01	T	-1.081	T	0.030	T	0.144	2.909	15.69	-0.522	0.003	-0.523	4.213	0.043	0.012156789572	.	.	1.649e-05	0	0	0.0001	0	1.5e-05	0	0	1.29e-05	2	154602	rs771146169	1.368e-05	1.368e-05	1.361e-05	1.375e-05	0.0001	8.94e-06	7.26e-06	3.982e-05	2.373e-05	0.0001	0	0	2.519e-05	0	0	1.079e-05	1.656e-05	2.319e-05	2.628e-05	2.626e-05	3.853e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0.0002	0.388	0.10909	T	0.087	0.40747	T	0.001	0.07471	B	0.001	0.04355	B	0.156418	0.17800	N	0.593417	0.959138	0.51968	D	0.035	0.08059	N	2.0	0.28836	T	-0.46	0.14978	N	0.22	0.27077	-1.0811	0.07137	T	0.030	0.12935	T	10	0.04252681	0.03010	T	0.012157	0.30482	T	0.043	0.11576	0.208	0.12497	0.043077524339	0.03247	0.08833544356075104	0.08766	0.0854666264456	0.09655	0.374650776386	0.21495	T	0.020069	0.28446	T	-0.412661	0.01909	T	-0.661407	0.08172	T	0.12467011064291	0.14881	T	0.779622	0.43772	T	0.030654108	0.02766	0.02931695	0.01257	0.030654108	0.02766	0.02931695	0.01257	-4.445	0.30162	T	.	.	0.081	0.08081	B	.;.;.	.;.;.	2.255402	0.28814	17.92	0.99032225798144058	0.50830	0.17978	0.20068	N	AEFDBCI	0.020545	0.00823	N	-0.882855447133515	0.11250	0.5419089	-0.755301139707255	0.15592	0.8208208	0.998454143327198	0.36996	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.25	-0.522	0.11332	-0.508000	0.06426	-0.007000	0.13116	-0.242000	0.07441	0.389000	0.26079	0.000000	0.08366	0.941000	0.48210	0.2517:0.2442:0.0:0.5041	4.213	0.09979	666	0.61362	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1042.98	33	chr10	102144271	.	C	T	1042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.192;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.82;ReadPosRankSum=0.841;SOR=0.586	GT:AD:DP:GQ:PL	0/1:21,41:62:99:1057,0,416	20	0	1	0
chr10	104454495	104454495	G	A	exonic	CFAP58	.	nonsynonymous SNV	CFAP58:NM_001008723:exon18:c.G2584A:p.G862R,	.	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	N	1.000	D	2.885	M	-2.0	D	0.730	D	0.786	D	0.921	2.763	15.20	5.47	2.724	5.443	16.837	0.692	0.191804016499	.	.	.	.	.	.	.	.	.	.	.	.	.	rs766303918	2.737e-06	3.42e-06	4.085e-06	1.375e-06	1.16e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	1.16e-05	6.573e-06	6.567e-06	1.285e-05	0	6.551e-05	0	0	.	.	0	0	6.551e-05	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	0.000325	0.45700	N	0.187572	0.999999	0.58761	D	.	.	.	-2.0	0.85393	D	-4.58	0.78807	D	0.777	0.77413	0.730	0.93546	D	0.786	0.92740	D	10	0.8125957	0.80528	D	0.191804	0.86206	D	0.692	0.88820	0.38	0.39645	0.484763619824	0.48107	0.5213949821049538	0.52062	0.304478965175	0.32754	0.482314318419	0.36375	T	0.200426	0.55801	T	0.321389	0.84571	D	0.324507	0.89281	D	0.998089015483856	0.93188	D	0.880612	0.59878	D	0.71213835	0.78725	0.7046215	0.82589	0.71213835	0.78726	0.7046215	0.82590	-3.238	0.12951	T	.	.	0.806	0.77569	P	.	.	4.728184	0.76132	26.5	0.99889918980979797	0.96436	0.98369	0.82077	D	AEFI	0.639845	0.61775	D	0.740293023119952	0.82272	7.721707	0.645460077616794	0.78272	6.843141	0.772070067368339	0.23689	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.47	5.47	0.80345	5.609000	0.67343	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.193000	0.21690	0.0:0.0:1.0:0.0	16.837	0.85823	171	0.93390	.	.	.	.	.	.	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	1894.98	37	chr10	104454495	.	G	A	1894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.933;DP=851;ExcessHet=0.0000;FS=1.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=0.289;SOR=0.584	GT:AD:DP:GQ:PL	0/1:81,78:159:99:1909,0,1916	20	0	1	0
chr10	110133616	110133619	TAAA	-	exonic	ADD3	.	nonframeshift deletion	ADD3:NM_001121:exon14:c.2023_2026del:p.*675*	Cerebral palsy, spastic quadriplegic, 3, Autosomal recessive	.	452	1067	3	0	0	3	0.00140384	.	.	438723	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0004	0.0001	8.781e-05	0	0	0.0006	0	0.0002	0.0002781	43	154602	rs753541585	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0037	0.0032	9.631e-05	0.0001	0.0041	2.542e-05	0	0.0052	0.0002	0.0007	0.0001	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.662e-05	0	0.0002	0.0035	0	0	0	0.0003	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	168.94	30	chr10	110133615	.	CTAAA	C	168.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.320e-01;DP=494;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-6.400e-02;SOR=0.631	GT:AD:DP:GQ:PL	0/1:9,5:14:99:183,0,352	20	0	1	0
chr10	119172416	119172416	C	A	exonic	PRDX3	.	nonsynonymous SNV	PRDX3:NM_001302272:exon5:c.G517T:p.G173C	.	.	431	1078	13	0	0	13	0.00599355	.	.	2809662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.725	H	1.92	T	0.102	D	0.279	T	0.89	5.040	29.8	5.19	2.583	7.760	19.113	0.640	0.0344172456427	0.0070	0.00139776	0.0052	0.0016	0.0029	0	0.0017	0.0074	0.0055	0.0042	0.0052457	811	154602	rs11554923	0.0068	0.0068	0.0069	0.0068	0.0078	0.0067	0.0067	0.0077	0.0076	0.0011	0.0042	0.0047	2.519e-05	0.0017	0.0076	0.0078	0.0065	0.0045	0.0051	0.0051	0.0051	0.0050	0.0101	0.0048	0.0046	0.0088	0.0083	0.0012	0.0011	0.0101	0.0066	0	0.0010	0.0068	0.0073	0.0061	0.0039	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	4.95	0.99826	H	1.92	0.23082	T	-7.9	0.96191	D	0.838	0.83371	0.102	0.84209	D	0.279	0.65089	T	10	0.024121523	0.00653	T	0.034417	0.55661	D	0.640	0.86283	.	.	0.785827271255	0.78384	0.8953526697202191	0.89506	0.428384344672	0.43156	0.810923039913	0.83634	D	0.516345	0.83001	D	-0.0559381	0.43538	T	0.154834	0.80487	D	0.166894767751732	0.18366	T	0.975702	0.91457	D	0.948423	0.96106	0.87563336	0.93257	0.948423	0.96106	0.87563336	0.93258	-8.721	0.65883	D	.	.	0.489	0.64094	A	.	.	4.955172	0.81888	27.7	0.99714948005809856	0.81633	0.99567	0.97521	D	AEFDBI	0.947911	0.95899	D	1.09465179467534	0.98034	17.27989	0.968211406184773	0.97912	17.01693	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.847000	0.85186	4.018000	0.41224	0.530000	0.24713	1.000000	0.71638	0.994000	0.32194	0.992000	0.67800	0.0:1.0:0.0:0.0	19.113	0.93307	923	0.18507	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin 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	1627.98	34	chr10	119172416	.	C	A	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.881;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=-2.059e+00;SOR=0.721	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1642,0,1208	20	0	1	0
chr10	119820851	119820851	T	C	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_001243194:exon2:c.T62C:p.I21T	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.009	B	0.01	B	0.068	N	1.000	D	1.1	L	1.12	T	-1.066	T	0.077	T	0.155	2.214	13.36	0.278	0.023	2.114	8.959	0.032	0.00770279112698	0.0004	.	0.0001	9.612e-05	0	0	0	0.0002	0	0	0.0001035	16	154602	rs143847485	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0002	9e-05	2.236e-05	0	0	1.872e-05	0	0.0003	0.0002	3.483e-05	0.0001	0.0001	0.0002	8.066e-05	0.0003	7.575e-05	6.28e-05	0.0002	0.0001	0	0	0	0	0	0	0	0.0003	0	0	0.338	0.16903	T	0.425	0.40747	T	0.001	0.07471	B	0.003	0.08700	B	0.068305	0.21681	N	0.516807	0.995924	0.42925	D	1.61	0.41143	L	1.12	0.48460	T	0.3	0.30762	N	0.435	0.47395	-1.0657	0.10386	T	0.077	0.30951	T	10	0.07210681	0.10720	T	0.007703	0.20431	T	0.032	0.07718	.	.	0.267299060538	0.26338	0.5117399583613493	0.51095	0.163648037258	0.18455	0.635355770588	0.57904	T	0.091782	0.38867	T	-0.404758	0.02154	T	-0.513206	0.20986	T	0.0433019213378429	0.04293	T	0.843016	0.56114	T	0.092300355	0.21651	0.099205665	0.23679	0.092300355	0.21650	0.099205665	0.23678	-3.402	0.40347	T	.	.	0.061	0.14477	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.231642	0.28490	17.81	0.94899610257887979	0.25751	0.88487	0.48437	D	AEFGBI	0.091122	0.18459	N	-0.509687326367129	0.21766	1.157509	-0.366447126261547	0.26005	1.433649	0.999895321631482	0.45129	0.706298	0.61202	0	0.708844	0.79440	0	0.662677	0.59975	0	0.613276	0.41899	0	.	.	5.68	0.278	0.14925	2.103000	0.41430	0.157000	0.15360	0.605000	0.46263	0.994000	0.38300	0.392000	0.24668	1.000000	0.97212	0.0:0.3481:0.0:0.6519	8.959	0.34995	545	0.72614	hSac2 domain;.;hSac2 domain;.;.;.;.;.;.;hSac2 domain;hSac2 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	0.02381	1237.98	34	chr10	119820851	.	T	C	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.210;DP=831;ExcessHet=0.0000;FS=1.447;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=-1.549e+00;SOR=0.846	GT:AD:DP:GQ:PL	0/1:66,54:120:99:1252,0,1564	20	0	1	0
chr10	122276833	122276833	C	T	exonic	BTBD16	.	nonsynonymous SNV	BTBD16:NM_001318189:exon3:c.C64T:p.R22W	.	.	.	.	.	.	.	.	.	.	.	2356088	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.544	N	2.25	M	1.24	T	-0.526	T	0.204	T	0.609	3.887	19.76	3.98	1.385	0.068	10.636	0.206	0.0556492213768	0.0008	0.000199681	0.0005	0.0003	0.0003	0	0	0.0008	0	0.0002	0.0004981	77	154602	rs147619675	0.0008	0.0008	0.0009	0.0008	0.0011	0.0008	0.0008	0.0010	0.0010	5.974e-05	0.0004	0	0	3.744e-05	0	0.0011	0.0006	0.0002	0.0005	0.0005	0.0007	0.0004	0.0009	0.0004	0.0004	0.0007	0.0007	0.0002	0	0.0007	0	0	0	0.0034	0.0009	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000083	0.51296	D	0.000000	0.544157	0.31388	N	2.545	0.74286	M	1.24	0.36691	T	-5.1	0.83027	D	0.698	0.70263	-0.5257	0.67703	T	0.204	0.56224	T	10	0.38565466	0.54520	T	0.055649	0.66314	D	0.206	0.49396	.	.	0.70969676289	0.70716	0.5020837778508499	0.50130	0.641525643221	0.57744	0.560316681862	0.47313	T	0.116004	0.43501	T	-0.286135	0.10027	T	-0.260494	0.48774	T	0.205646225380879	0.20723	T	0.889511	0.62170	D	0.7195486	0.79136	0.6930587	0.81933	0.7195486	0.79138	0.6930587	0.81934	-5.582	0.42628	T	.	.	0.294	0.52500	B	.	.	3.841036	0.55578	23.6	0.99924903133917553	0.98980	0.56438	0.30117	D	AEFGBI	0.325939	0.42737	N	0.488517024336442	0.66418	4.94757	0.416820880225287	0.62610	4.479612	0.99999700702164	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.9	3.98	0.45383	0.072000	0.14482	.	.	-0.181000	0.10308	0.993000	0.37899	0.050000	0.21810	0.970000	0.54328	0.1916:0.8084:0.0:0.0	10.636	0.44758	896	0.25515	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2508.98	35	chr10	122276833	.	C	T	2508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.822;DP=1372;ExcessHet=0.0000;FS=1.633;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.849;SOR=0.811	GT:AD:DP:GQ:PL	0/1:112,106:218:99:2523,0,2543	20	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.022	B	0.000	D	0.958	D	1.825	L	2.91	T	-1.066	T	0.029	T	0.723	2.839	15.46	5.44	2.534	6.005	16.179	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3947	1430.69	126	chr10	122983003	.	G	C	1430.69	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.692e+00;DP=2620;ExcessHet=17.4423;FS=177.818;InbreedingCoeff=-0.5926;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.541;SOR=13.321	GT:AD:DP:GQ:PL	0/1:68,43:126:99:320,0,941	4	0	15	2
chr10	124021238	124021238	G	-	exonic	CHST15	.	frameshift deletion	CHST15:NM_001270765:exon6:c.1365delC:p.R456Vfs*28	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,6,119,0:127:99:.:.:5036,4448,4239,378,190,0,4986,4450,358,4968	0	0	1	0
chr10	124021238	124021238	-	GG	exonic	CHST15	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1364_1365insCC:p.R456Pfs*29	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,6,119,0:127:99:.:.:5036,4448,4239,378,190,0,4986,4450,358,4968	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|1:91,41:132:99:0|1:124989533_G_A:1427,0,3646:124989533	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	0/1:105,32:137:99:785,0,3487	1	0	20	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G	.	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.975	D	0.001	N	1.000	D	1.24	L	-1.82	D	0.438	D	0.671	D	0.652	4.150	21.4	5.12	2.665	9.168	18.759	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	4921.72	139	chr10	124989579	.	G	C	4921.72	.	AC=13;AF=0.433;AN=30;BaseQRankSum=0.109;DP=2996;ExcessHet=11.8493;FS=20.692;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.533;MQ=53.13;MQRankSum=-7.741e+00;QD=2.77;ReadPosRankSum=-2.380e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/1:126,25:151:99:297,0,3231	2	0	13	6
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|1:115,17:132:99:0|1:124994489_T_G:368,0,4760:124994489	0	0	21	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y	.	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.868	P	0.701	P	0.000	D	1.000	D	0.5	N	-1.36	T	-0.129	T	0.435	T	0.897	4.262	22.2	5.21	2.428	9.476	18.767	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11255.74	156	chr10	124994501	.	G	A	11255.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.168e+00;DP=3468;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.01;MQRankSum=-6.676e+00;QD=3.46;ReadPosRankSum=-2.867e+00;SOR=3.343	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,23:140:99:0|1:124994489_T_G:594,0,4798:124994489	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|1:113,23:136:99:0|1:124994489_T_G:606,0,4630:124994489	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|1:111,29:140:99:0|1:124994523_G_A:868,0,4468:124994523	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	0/1:106,33:139:99:574,0,2841	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	0/1:105,38:143:99:612,0,2883	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|1:104,38:142:99:0|1:124994577_C_A:1283,0,4181:124994577	0	0	21	0
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17	.	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1000.95	71	chr10	125003381	.	AC	A	1000.95	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.186e+00;DP=1911;ExcessHet=2.5830;FS=6.426;InbreedingCoeff=-0.2047;MLEAC=7;MLEAF=0.167;MQ=59.12;MQRankSum=-9.613e+00;QD=1.33;ReadPosRankSum=-1.280e+00;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,9:120:44:0|1:125003381_AC_A:44,0,4568:125003381	14	0	7	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V	.	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.971	D	0.000	D	1.000	D	1.955	M	0.56	T	-0.711	T	0.257	T	0.772	1.617	11.36	1.83	0.176	2.720	9.074	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	0.25	1450.32	72	chr10	125003448	.	G	C	1450.32	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-9.980e-01;DP=1678;ExcessHet=3.5521;FS=10.491;InbreedingCoeff=-0.3485;MLEAC=10;MLEAF=0.313;MQ=59.04;MQRankSum=-7.966e+00;QD=2.01;ReadPosRankSum=1.23;SOR=1.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,9:97:99:0|1:125003425_G_C:113,0,3668:125003425	8	0	8	5
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L	.	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	N	1.000	D	1.955	M	0.4	T	-0.394	T	0.310	T	0.845	3.342	17.25	3.81	1.107	9.869	15.129	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	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	0.2188	661.1	67	chr10	125003450	.	G	A	661.1	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.342e+00;DP=1603;ExcessHet=2.5830;FS=2.196;InbreedingCoeff=-0.2922;MLEAC=8;MLEAF=0.250;MQ=59.24;MQRankSum=-8.454e+00;QD=1.06;ReadPosRankSum=0.993;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,9:97:99:0|1:125003425_G_C:113,0,3668:125003425	9	0	7	5
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19	.	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	626.51	67	chr10	125003453	.	CG	C	626.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.108e+00;DP=1598;ExcessHet=2.5830;FS=2.198;InbreedingCoeff=-0.1999;MLEAC=7;MLEAF=0.167;MQ=59.25;MQRankSum=-8.630e+00;QD=0.99;ReadPosRankSum=0.814;SOR=0.914	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,9:97:99:0|1:125003425_G_C:113,0,3668:125003425	14	0	7	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N	.	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.926	P	0.711	P	0.000	D	1.000	D	1.24	L	-1.65	D	0.171	D	0.548	D	0.535	3.112	16.40	4.72	2.350	9.476	18.050	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	0.2188	661.11	63	chr10	125003460	.	G	T	661.11	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.362e+00;DP=1555;ExcessHet=2.5830;FS=3.478;InbreedingCoeff=-0.2923;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.513e+00;QD=1.08;ReadPosRankSum=0.369;SOR=0.956	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,9:91:99:0|1:125003425_G_C:131,0,3416:125003425	9	0	7	5
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T	.	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.987	D	0.766	P	0.000	D	1.000	D	1.67	L	-2.02	D	0.518	D	0.688	D	0.829	3.996	20.5	4.72	2.350	9.750	18.050	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	0.1944	704.07	63	chr10	125003466	.	G	T	704.07	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-1.194e+00;DP=1529;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2613;MLEAC=8;MLEAF=0.222;MQ=59.27;MQRankSum=-8.513e+00;QD=1.19;ReadPosRankSum=0.161;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,9:85:99:0|1:125003425_G_C:149,0,3164:125003425	11	0	7	3
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V	.	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.986	D	0.674	P	0.000	D	1.000	D	1.795	L	-2.03	D	0.404	D	0.665	D	0.926	3.651	18.56	4.72	2.350	5.914	18.050	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	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	0	0	0	0	0	0	0	0.2059	682.08	63	chr10	125003468	.	C	A	682.08	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-9.480e-01;DP=1516;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2727;MLEAC=8;MLEAF=0.235;MQ=59.27;MQRankSum=-8.454e+00;QD=1.16;ReadPosRankSum=-3.400e-02;SOR=0.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,9:85:99:0|1:125003425_G_C:149,0,3144:125003425	10	0	7	4
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K	.	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.936	P	0.548	P	0.000	N	1.000	D	1.795	L	-1.74	D	-0.145	T	0.509	D	0.535	2.434	14.10	2.83	0.513	1.589	5.756	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	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	0.2188	672.89	63	chr10	125003470	.	G	T	672.89	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.170e-01;DP=1506;ExcessHet=2.5830;FS=6.678;InbreedingCoeff=-0.2894;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.448e+00;QD=1.17;ReadPosRankSum=-2.280e-01;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,9:84:99:0|1:125003425_G_C:152,0,3102:125003425	9	0	7	5
chr10	125003491	125003491	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon2:c.T1680A:p.S560R,	.	.	420	1097	5	0	0	5	0.00227376	0.0001	0.09	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.813	P	0.409	B	0.120	N	1.000	D	.	.	-1.85	D	-0.191	T	0.489	T	0.446	3.912	19.90	0.586	0.264	1.788	9.132	0.477	0.214387794182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.016	0.60972	D	0.813	0.45457	P	0.409	0.44752	B	0.120212	0.19044	N	0.623124	1	0.81001	D	.	.	.	-1.85	0.84267	D	-1.69	0.40274	N	0.82	0.81559	-0.1913	0.77895	T	0.489	0.80565	T	9	0.75226426	0.75723	D	0.214388	0.87455	D	0.477	0.76881	0.427	0.47350	0.792541464948	0.79061	0.6253988332573677	0.62472	0.162367538727	0.18315	0.613913297653	0.54869	T	.	.	.	0.0835129	0.62450	D	-0.117816	0.61982	T	0.946590483188629	0.62503	D	0.790821	0.43180	T	.	.	.	.	.	.	.	.	-6.658	0.51493	T	.	.	0.947	0.86575	P	.	.	3.457030	0.48168	22.6	0.99726346640516361	0.82406	0.87670	0.47287	D	AEFDBHCI	0.334004	0.43291	N	0.43266425900824	0.63228	4.552434	0.267884646439281	0.53674	3.535174	0.999994960590163	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	0.586	0.16618	2.212000	0.42474	2.756000	0.34570	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.7154:0.0:0.2846:0.0	9.132	0.36011	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	1	0	0	0	0.1	62.03	60	chr10	125003491	.	A	T	62.03	.	AC=1;AF=0.100;AN=10;BaseQRankSum=3.46;DP=1343;ExcessHet=0.0000;FS=7.786;InbreedingCoeff=-0.2727;MLEAC=3;MLEAF=0.300;MQ=59.23;MQRankSum=-7.442e+00;QD=0.91;ReadPosRankSum=-1.947e+00;SOR=2.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,6:68:65:0|1:125003488_G_A:65,0,2585:125003488	4	0	1	16
chr10	125003493	125003493	-	TCACAAATTCTGTCCAA	splicing	CTBP2	NM_001290214:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321013:exon3:c.59-1->TTGGACAGAATTTGTGA;NM_001329:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001290215:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321012:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321014:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001083914:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001363508:exon2:c.263-1->TTGGACAGAATTTGTGA;NM_022802:exon2:c.1679-1->TTGGACAGAATTTGTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	53.85	53	chr10	125003493	.	C	CTCACAAATTCTGTCCAA	53.85	.	AC=1;AF=0.033;AN=30;BaseQRankSum=1.96;DP=1292;ExcessHet=0.0000;FS=7.786;InbreedingCoeff=-0.1189;MLEAC=1;MLEAF=0.033;MQ=59.24;MQRankSum=-7.442e+00;QD=0.79;ReadPosRankSum=-2.756e+00;SOR=2.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,6:68:65:0|1:125003488_G_A:65,0,2585:125003488	14	0	1	6
chr10	125576858	125576858	G	A	exonic	TEX36	.	nonsynonymous SNV	TEX36:NM_001318133:exon4:c.C281T:p.T94M,	.	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.98	D	0.541	P	.	.	1.000	N	.	.	0.9	T	-1.034	T	0.070	T	0.034	0.314	5.700	-0.091	-0.032	-0.109	4.337	0.069	.	.	0.00339457	0.0058	0	0.0053	0	0	0.0086	0	0.0051	0.0013842	214	154602	rs77774010	0.0098	0.0093	0.0100	0.0097	0.0148	0.0097	0.0097	0.0122	0.0113	0.0012	0.0054	0.0053	5.597e-05	0.0100	0.0148	0.0111	0.0094	0.0040	0.0071	0.0071	0.0071	0.0072	0.0111	0.0068	0.0066	0.0104	0.0102	0.0018	0.0033	0.0056	0.0055	0	0.0086	0.0102	0.0111	0.0137	0.0050	0.064	0.36509	T	0.068	0.44106	T	0.98	0.59353	D	0.541	0.48869	P	.	.	.	.	1	0.08975	N	.	.	.	0.9	0.45248	T	-0.83	0.22727	N	0.068	0.04072	-1.0342	0.19109	T	0.070	0.28740	T	8	0.005066544	0.00109	T	.	.	.	0.069	0.20116	.	.	0.115124310173	0.11017	.	.	.	.	.	.	.	0.015888	0.13236	T	-0.71423	0.00030	T	-0.787688	0.02229	T	0.00483143693266006	0.00052	T	0.405359	0.10397	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14751	B	.	.	0.545452	0.09141	5.923	0.90987877252136895	0.20237	0.00587	0.02638	N	AEFBI	0.025843	0.01838	N	-0.519285017956033	0.21456	1.138853	-0.78107368167306	0.14959	0.7843592	3.26355241941716E-4	0.06540	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.07	-0.0915	0.12996	-0.104000	0.10893	-0.314000	0.10017	-0.830000	0.02882	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4177:0.0:0.5823:0.0	4.337	0.10527	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	1700.98	40	chr10	125576858	.	G	A	1700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=907;ExcessHet=0.0000;FS=5.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-8.490e-01;SOR=0.378	GT:AD:DP:GQ:PL	0/1:70,64:134:99:1715,0,1827	20	0	1	0
chr10	132922700	132922700	G	A	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon12:c.C1265T:p.T422M,	.	.	422	1090	10	0	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	0.998	N	.	.	2.82	T	-0.908	T	0.117	T	0.179	0.253	5.367	-3.1	-0.563	0.205	6.306	0.048	0.0396085375064	.	0.00219649	0.0019	0.0007	0.0031	0	0	0.0014	0.0063	0.0026	0.0005498	85	154602	rs140185143	0.0012	0.0012	0.0012	0.0013	0.0078	0.0012	0.0012	0.0059	0.0053	0.0006	0.0029	0.0030	0	0.0001	0.0078	0.0010	0.0020	0.0029	0.0011	0.0011	0.0011	0.0011	0.0033	0.0010	0.0009	0.0024	0.0021	0.0003	0	0.0031	0.0026	0.0002	0	0.0068	0.0011	0.0009	0.0033	0.077	0.34095	T	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.82	0.10871	T	-1.1	0.28497	N	0.127	0.12055	-0.9085	0.47037	T	0.117	0.41142	T	6	0.008535087	0.00193	T	0.039609	0.58906	D	0.048	0.13305	.	.	0.0297737177859	0.01360	0.07209480817403437	0.07146	0.441977436044	0.44176	0.400841325521	0.25186	T	0.027875	0.20317	T	-0.610348	0.00126	T	-0.647164	0.09154	T	0.00700018913881569	0.00080	T	0.792521	0.43410	T	0.021688124	0.00785	0.0491156	0.07439	0.021688124	0.00784	0.0491156	0.07439	-5.299	0.39933	T	.	.	0.096	0.15520	B	.	.	2.345217	0.30063	18.32	0.99152462879613545	0.53848	0.00391	0.01965	N	AEFDBI	0.031433	0.03361	N	-0.912366698047863	0.10552	0.5047728	-1.13015712784796	0.07129	0.3456308	0.30643274557909	0.19242	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.28	-3.1	0.04991	-0.010000	0.12681	0.354000	0.17507	-0.148000	0.12190	0.000000	0.06391	0.002000	0.18203	0.005000	0.06747	0.3834:0.1371:0.4795:0.0	6.306	0.20344	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	907.11	37	chr10	132922700	.	G	A	907.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.572;DP=790;ExcessHet=0.1072;FS=0.915;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.673;SOR=0.535	GT:AD:DP:GQ:PL	0/1:16,15:31:99:390,0,454	19	0	2	0
chr10	133285549	133285549	G	A	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon11:c.C1412T:p.A471V	.	.	.	.	.	.	.	.	.	.	.	2806326	not_provided|TUBGCP2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.003	B	0.002	B	0.005	N	0.847	N	1.195	L	3.16	T	-1.033	T	0.017	T	0.104	0.599	7.228	4.62	1.315	7.068	4.193	0.093	0.00488816747836	0.0015	0.000599042	0.0013	0.0002	0.0016	0	0.0004	0.0019	0.0027	0	0.0011707	181	154602	rs151132456	0.0015	0.0015	0.0015	0.0015	0.0020	0.0014	0.0014	0.0017	0.0017	0.0004	0.0013	0.0011	2.55e-05	0.0002	0.0020	0.0018	0.0012	0.0001	0.0011	0.0011	0.0012	0.0011	0.0020	0.0010	0.0009	0.0017	0.0016	0.0003	0	0.0009	0.0009	0.0002	0	0	0.0020	0.0019	0.0002	0.288	0.15098	T	0.58	0.08505	T	0.0	0.02946	B	0.002	0.06944	B	0.005351	0.32875	N	0.317642	0.847189	0.28548	N	0.77	0.19370	N	3.16	0.07711	T	-0.54	0.16598	N	0.148	0.16725	-1.0331	0.19459	T	0.017	0.06902	T	10	0.0070544183	0.00160	T	0.004888	0.12286	T	0.093	0.26882	.	.	0.350746614512	0.34690	0.1273686833401027	0.12662	0.283872200585	0.30823	0.384883344173	0.22947	T	0.061442	0.31654	T	-0.588928	0.00170	T	-0.624278	0.10853	T	0.0345132128438498	0.02725	T	0.817118	0.47476	T	0.019753672	0.00512	0.027829662	0.00966	0.019753672	0.00512	0.027829662	0.00966	-3.807	0.21988	T	.	.	0.064	0.02670	B	.;.;.;.;.	.;.;.;.;.	2.050683	0.26070	16.99	0.38200669053738129	0.02562	0.81415	0.40823	D	AEFGBI	0.103555	0.20744	N	-0.190125555571483	0.33543	1.904297	-0.0603988487977531	0.37045	2.163705	0.942386082329209	0.27520	0.719381	0.83141	0	0.723133	0.82719	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.64	4.62	0.56946	7.174000	0.77176	4.162000	0.42217	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.331000	0.25224	0.7657:0.0:0.2343:0.0	4.193	0.09888	993	0.01300	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1686.98	34	chr10	133285549	.	G	A	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.590e-01;DP=852;ExcessHet=0.0000;FS=1.294;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.318;SOR=0.675	GT:AD:DP:GQ:PL	0/1:73,74:147:99:1701,0,1666	20	0	1	0
chr11	230474	230474	G	T	exonic	SIRT3	.	nonsynonymous SNV	SIRT3:NM_001370312:exon3:c.C593A:p.P198H	.	.	420	1092	9	1	0	11	0.00501139	.	.	712769	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.09	T	0.979	D	0.838	P	0.065	N	1.000	N	1.62	L	1.0	T	-1.007	T	0.109	T	0.467	2.087	12.93	2.06	0.545	1.660	9.247	0.161	.	0.0105	0.0091853	0.0061	0.0240	0.0071	0	0.0002	0.0051	0.0107	0.0022	0.0059702	923	154602	rs61748606	0.0055	0.0055	0.0056	0.0055	0.0205	0.0054	0.0054	0.0192	0.0186	0.0205	0.0081	0.0012	0	0.0005	0.0167	0.0056	0.0071	0.0019	0.0098	0.0098	0.0103	0.0094	0.0230	0.0094	0.0093	0.0218	0.0213	0.0230	0	0.0082	0.0012	0	0.0002	0.0102	0.0055	0.0118	0.0023	0.022	0.61437	D	0.064	0.56192	T	0.979	0.59044	D	0.736	0.60045	P	0.064507	0.02178	N	1.908390	1	0.08975	N	1.12	0.28775	L	1.0	0.41392	T	-2.05	0.54546	N	0.209	0.29659	-1.0071	0.27819	T	0.109	0.39462	T	10	0.0055104196	0.00122	T	.	.	.	0.161	0.41658	.	.	0.497741790239	0.49410	0.46620834644221054	0.46539	0.304552870567	0.32758	0.236016750336	0.02443	T	0.116518	0.43592	T	-0.43035	0.01475	T	-0.37202	0.36652	T	0.0303873094741516	0.02049	T	0.841716	0.54988	T	0.17512874	0.38354	0.15006863	0.35407	0.17512874	0.38354	0.15006863	0.35406	-5.407	0.40987	T	.	.	0.098	0.20352	B	.;.;.;.;.	.;.;.;.;.	3.278097	0.44906	22.0	0.99035522111742103	0.50895	0.13440	0.17857	N	AEFBI	0.123716	0.23945	N	-0.154555400701323	0.35041	2.007767	-0.323520100368941	0.27341	1.516446	0.67757721930716	0.22442	0.736574	0.97449	0	0.633656	0.55848	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.31	2.06	0.25932	1.695000	0.37381	4.667000	0.44262	0.676000	0.76740	0.105000	0.22895	0.945000	0.28875	0.316000	0.24877	0.0:0.1215:0.5023:0.3762	9.247	0.36695	774	0.48577	Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core 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	1984.98	33	chr11	230474	.	G	T	1984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.702;DP=915;ExcessHet=0.0000;FS=1.181;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=1.47;SOR=0.796	GT:AD:DP:GQ:PL	0/1:88,84:172:99:1999,0,2086	20	0	1	0
chr11	640090	640090	G	0	exonic	DRD4	.	.	.	Autonomic nervous system dysfunction (3)	.	623	857	15	8	19	50	0.017765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	599.75	23	chr11	640090	.	G	C,*	599.75	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=-1.502e+00;DP=553;ExcessHet=0.3672;FS=2.997;InbreedingCoeff=0.0028;MLEAC=2,1;MLEAF=0.056,0.028;MQ=59.46;MQRankSum=0.901;QD=7.06;ReadPosRankSum=1.91;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:15,13,0:28:99:.:.:405,0,562,450,601,1051	15	0	2	3
chr11	640099	640099	A	0	exonic	DRD4	.	.	.	Autonomic nervous system dysfunction (3)	.	654	794	37	18	19	92	0.0439494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1313.13	27	chr11	640099	.	A	G,*	1313.13	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=-7.890e-01;DP=605;ExcessHet=0.7148;FS=3.595;InbreedingCoeff=-0.0112;MLEAC=3,1;MLEAF=0.079,0.026;MQ=59.62;MQRankSum=0.00;QD=13.13;ReadPosRankSum=1.12;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,20,0:28:99:.:.:779,0,245,803,305,1108	15	0	3	2
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	0/2:492,0,157:649:99:5013,6512,27104,0,20465,19962	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	0/2:344,36,70,0:450:99:.:.:1932,1501,15838,0,13006,14228,2939,15945,14439,17378	0	0	4	1
chr11	1017465	1017465	C	0	exonic	MUC6	.	.	.	.	.	334	991	23	0	174	197	0.0114713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	810.88	546	chr11	1017465	.	C	A,*	810.88	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.140e-01;DP=13242;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=2,6;MLEAF=0.059,0.176;MQ=55.99;MQRankSum=-7.141e+00;QD=0.16;ReadPosRankSum=-2.532e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:431,18,64:513:99:0|1:1017465_C_*:1373,1960,20003,0,17379,17975:1017465	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	0/2:342,37,74,63:516:99:.:.:2078,1554,15803,0,12807,14138,462,13269,11715,14633	0	0	13	0
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|1:340,120,0:460:99:0|1:1017470_G_T:4015,0,13915,5039,14277,19315:1017470	0	0	15	1
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	9671.86	554	chr11	1017471	.	C	T,*	9671.86	.	AC=10,4;AF=0.294,0.118;AN=34;BaseQRankSum=1.94;DP=13468;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=11,5;MLEAF=0.324,0.147;MQ=55.80;MQRankSum=-1.060e+01;QD=1.01;ReadPosRankSum=2.55;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:439,21,63:523:99:0|1:1017465_C_*:1319,1785,20155,0,17573,18265:1017465	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|1:384,80,0:464:99:0|1:1017461_G_T:2203,0,15883,3359,16124,19483:1017461	1	0	13	2
chr11	1017475	1017475	T	0	exonic	MUC6	.	.	.	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	436.22	548	chr11	1017475	.	T	*,G	436.22	.	AC=4,1;AF=0.125,0.031;AN=32;BaseQRankSum=3.07;DP=13290;ExcessHet=1.1607;FS=1.912;InbreedingCoeff=-0.2174;MLEAC=5,1;MLEAF=0.156,0.031;MQ=56.45;MQRankSum=-6.635e+00;QD=0.12;ReadPosRankSum=6.01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:440,63,20:523:99:.:.:1300,0,18555,1805,17649,20214	11	0	4	5
chr11	1017475	1017475	T	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.A5326C:p.T1776P,	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.967	D	0.915	D	.	.	1.000	N	1.65	L	1.92	T	-1.035	T	0.084	T	0.142	1.872	12.22	-1.4	-0.326	0.060	2.878	0.035	.	.	.	0.0131	0.0110	0.0073	0.0102	0.0092	0.0120	0.0094	0.0280	.	.	.	rs767120670	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0052	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.022	0.57587	D	0.967	0.56408	D	0.915	0.65091	D	.	.	.	.	1	0.08975	N	1.965	0.53209	M	1.92	0.23082	T	-0.7	0.19933	N	0.032	0.00825	-1.0346	0.18983	T	0.084	0.32729	T	9	0.0030392706	0.00050	T	.	.	.	0.035	0.08770	.	.	.	.	0.12709291837497497	0.12635	0.286751042776	0.31065	0.161724865437	0.00012	T	0.014035	0.12025	T	-0.171226	0.25050	T	-0.483731	0.24051	T	0.165187418460846	0.18247	T	.	.	.	0.07586503	0.17121	0.10278301	0.24644	0.07586503	0.17121	0.10278301	0.24643	-7.784	0.59588	D	.	.	0.075	0.05317	B	.	.	1.345915	0.17528	13.22	0.86401350992746828	0.16511	0.09225	0.15024	N	AEFDGBHCI	0.087222	0.17685	N	-0.554133786201835	0.20354	1.072371	-0.848067051572066	0.13334	0.6911499	0.999988853852363	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.387032	0.06801	2	.	.	2.33	-1.4	0.08499	-0.249000	0.08861	-3.059000	0.03098	-1.265000	0.01286	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1901:0.2576:0.0:0.5523	2.878	0.05292	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1562	436.22	548	chr11	1017475	.	T	*,G	436.22	.	AC=4,1;AF=0.125,0.031;AN=32;BaseQRankSum=3.07;DP=13290;ExcessHet=1.1607;FS=1.912;InbreedingCoeff=-0.2174;MLEAC=5,1;MLEAF=0.156,0.031;MQ=56.45;MQRankSum=-6.635e+00;QD=0.12;ReadPosRankSum=6.01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:440,63,20:523:99:.:.:1300,0,18555,1805,17649,20214	11	0	4	5
chr11	1017483	1017483	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	81106.23	565	chr11	1017483	.	T	G,*	81106.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=6.32;DP=13450;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.502e+01;QD=6.50;ReadPosRankSum=3.20;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:350,130,0:480:99:0|1:1017470_G_T:4405,0,14305,5459,14696,20155:1017470	0	0	15	1
chr11	1017489	1017489	G	0	exonic	MUC6	.	.	.	.	.	344	749	262	0	167	429	0.148864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	7292.49	575	chr11	1017489	.	G	A,*	7292.49	.	AC=12,5;AF=0.300,0.125;AN=40;BaseQRankSum=5.22;DP=13481;ExcessHet=25.1139;FS=0.874;InbreedingCoeff=-0.6876;MLEAC=12,5;MLEAF=0.300,0.125;MQ=56.46;MQRankSum=-8.490e+00;QD=0.71;ReadPosRankSum=0.688;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:408,74,0:482:99:0|1:1017461_G_T:1879,0,16908,3107,17131,20238:1017461	3	0	12	1
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|1:367,109,0:476:99:0|1:1017470_G_T:3315,0,14691,4455,15113,19902:1017470	0	0	15	2
chr11	1017552	1017552	T	0	exonic	MUC6	.	.	.	.	.	0	77	100	0	49	149	0.393701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	9377.78	461	chr11	1017552	.	T	C,*	9377.78	.	AC=8,2;AF=0.235,0.059;AN=34;BaseQRankSum=-1.657e+00;DP=12232;ExcessHet=6.1002;FS=0.621;InbreedingCoeff=-0.4000;MLEAC=9,2;MLEAF=0.265,0.059;MQ=58.98;MQRankSum=1.86;QD=1.78;ReadPosRankSum=0.813;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:358,86,0:444:99:1|0:1017421_G_T:1306,0,10923,2609,11770,16644:1017421	7	0	8	4
chr11	1017596	1017596	T	0	exonic	MUC6	.	.	.	.	.	389	572	462	1	98	562	0.288557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3056	13853.16	475	chr11	1017596	.	T	G,*	13853.16	.	AC=9,2;AF=0.250,0.056;AN=36;BaseQRankSum=-3.120e-01;DP=12315;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4237;MLEAC=10,2;MLEAF=0.278,0.056;MQ=59.48;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.130;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:389,95,0:484:99:0|1:1017596_T_G:1712,0,11743,2879,12027,14906:1017596	7	0	9	3
chr11	1017655	1017655	G	0	exonic	MUC6	.	.	.	.	.	390	675	445	0	12	457	0.247911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	15394.48	526	chr11	1017655	.	G	A,*	15394.48	.	AC=11,1;AF=0.262,0.024;AN=42;BaseQRankSum=0.846;DP=13673;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=11,1;MLEAF=0.262,0.024;MQ=59.47;MQRankSum=0.935;QD=2.07;ReadPosRankSum=0.561;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:402,116,0:518:99:1|0:1017596_T_G:1865,0,11907,3071,12253,15324:1017596	9	0	11	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|1:169,36,16:221:99:0|1:1018138_T_C:985,0,6988,825,6424,7888:1018138	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	0/1:188,16,13:217:88:.:.:88,0,8098,108,7333,7945	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	0/1:241,28,19:288:99:.:.:450,0,10035,378,9322,10440	6	0	10	0
chr11	1095948	1095948	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	143278.47	224	chr11	1095948	.	C	G,*	143278.47	.	AC=40,1;AF=0.952,0.024;AN=42;BaseQRankSum=1.49;DP=4120;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=40,1;MLEAF=0.952,0.024;MQ=54.83;MQRankSum=1.39;QD=32.74;ReadPosRankSum=1.46;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,212,0:216:99:1|1:1095948_C_G:8831,524,0,8843,638,8957:1095948	0	19	1	0
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	158783.66	219	chr11	1095999	.	A	T,C,*	158783.66	.	AC=40,1,1;AF=0.952,0.024,0.024;AN=42;BaseQRankSum=0.638;DP=4365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,1,1;MLEAF=0.952,0.024,0.024;MQ=58.57;MQRankSum=11.29;QD=24.86;ReadPosRankSum=-1.695e+00;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,231,0,0:231:99:1|1:1095948_C_G:9404,694,0,9404,694,9404,9404,694,9404,9404:1095948	0	19	0	0
chr11	1096086	1096086	G	0	exonic	MUC2	.	.	.	.	.	566	673	252	7	24	290	0.165012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	16587.35	478	chr11	1096086	.	G	C,*	16587.35	.	AC=7,4;AF=0.167,0.095;AN=42;BaseQRankSum=-3.100e-01;DP=7824;ExcessHet=0.0338;FS=4.192;InbreedingCoeff=0.3842;MLEAC=7,4;MLEAF=0.167,0.095;MQ=56.40;MQRankSum=3.42;QD=7.73;ReadPosRankSum=-7.470e-01;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,103,0:386:99:0|1:1096086_G_C:2853,0,10827,3704,11136,14840:1096086	13	0	4	0
chr11	1096123	1096123	C	0	exonic	MUC2	.	.	.	.	.	478	865	169	4	6	183	0.0928159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	13067.43	463	chr11	1096123	.	C	*,T	13067.43	.	AC=2,6;AF=0.050,0.150;AN=40;BaseQRankSum=0.051;DP=8687;ExcessHet=0.0303;FS=1.783;InbreedingCoeff=0.3363;MLEAC=2,6;MLEAF=0.050,0.150;MQ=56.41;MQRankSum=2.66;QD=7.92;ReadPosRankSum=0.268;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:327,0,92:419:99:0|1:1096086_G_C:2419,3401,15896,0,12494,12219:1096086	14	0	0	1
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	37726.02	456	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	T,*	37726.02	.	AC=12,8;AF=0.286,0.190;AN=42;BaseQRankSum=2.69;DP=11682;ExcessHet=26.8223;FS=0.000;InbreedingCoeff=-0.7182;MLEAC=12,8;MLEAF=0.286,0.190;MQ=57.74;MQRankSum=-5.520e+00;QD=5.63;ReadPosRankSum=-1.130e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/1:225,132,0:357:99:4685,0,8526,5361,9058,14419	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	0/1:225,132,0:357:99:.:.:4685,0,8526,5361,9058,14419	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	0/1:225,132,0:357:99:.:.:4685,0,8526,5361,9058,14419	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	0/1:225,132,0:357:99:.:.:4685,0,8526,5361,9058,14419	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	0/2:225,0,132:357:99:.:.:4685,5361,14419,0,9058,8526	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	0/1:225,132,0:357:99:.:.:4685,0,8526,5361,9058,14419	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	0/1:225,132,0:357:99:.:.:4685,0,8526,5361,9058,14419	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	0/1:225,132,0:357:99:.:.:4685,0,8526,5361,9058,14419	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	0/1:225,132,0:357:99:.:.:4685,0,8526,5361,9058,14419	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	0/1:225,132,0:357:99:.:.:4685,0,8526,5361,9058,14419	0	0	8	11
chr11	1096650	1096650	C	0	exonic	MUC2	.	.	.	.	.	8	102	82	32	2	148	0.417143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15758.34	106	chr11	1096650	.	C	T,*	15758.34	.	AC=9,1;AF=0.225,0.025;AN=40;BaseQRankSum=3.24;DP=2340;ExcessHet=0.0097;FS=1.183;InbreedingCoeff=0.4232;MLEAC=9,1;MLEAF=0.225,0.025;MQ=53.80;MQRankSum=-1.435e+00;QD=20.23;ReadPosRankSum=0.795;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,49,0:127:99:0|1:1096650_C_T:1471,0,2250,1704,2397,4100:1096650	13	3	3	1
chr11	1096664	1096664	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	61688.6	93	chr11	1096664	.	T	C,*	61688.6	.	AC=40,2;AF=0.952,0.048;AN=42;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=53.76;QD=30.39;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,109,0:109:99:.:.:3890,327,0,3890,327,3890	0	19	0	0
chr11	1096735	1096735	G	0	exonic	MUC2	.	.	.	.	.	77	124	16	7	2	32	0.107914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	1024.05	19	chr11	1096735	.	G	*,A	1024.05	.	AC=1,7;AF=0.056,0.389;AN=18;BaseQRankSum=2.66;DP=578;ExcessHet=6.7594;FS=42.548;InbreedingCoeff=-0.2647;MLEAC=2,11;MLEAF=0.111,0.611;MQ=49.97;MQRankSum=-7.400e-01;QD=5.25;ReadPosRankSum=0.358;SOR=1.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:13,0,5:18:8:.:.:182,198,221,0,23,8	1	0	1	12
chr11	1096825	1096825	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1304715576	0.0029	0.0037	0.0029	0.0029	0.0097	0.0028	0.0027	0.0082	0.0076	0.0052	0.0066	0.0051	0.0097	0.0069	0.0030	0.0021	0.0034	0.0043	0.0013	0.0029	0.0014	0.0012	0.0054	0.0002	9.588e-05	.	.	0.0054	.	0	0	0	0.0057	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	0.03125	31.04	33	chr11	1096825	.	C	T	31.04	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.771;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0919;MLEAC=1;MLEAF=0.031;MQ=42.84;MQRankSum=-4.400e-01;QD=1.24;ReadPosRankSum=-1.156e+00;SOR=1.022	GT:AD:DP:GQ:PL	0/1:20,5:25:43:43,0,421	15	0	1	5
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	1/1:0,11,0:11:30:288,30,0,288,30,288	4	8	2	6
chr11	1097253	1097253	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	638	875	8	0	1	9	0.00455063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.767	P	0.068	B	.	.	1.000	N	.	.	2.47	T	-0.981	T	0.016	T	0.121	-0.161	3.215	-2.04	-0.678	0.798	4.976	0.040	0.0298371299834	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179715210	0.0027	0.0052	0.0027	0.0027	0.0097	0.0026	0.0025	0.0086	0.0082	0.0097	0.0029	0.0052	0.0069	0.0056	0.0037	0.0021	0.0053	0.0006	0.0033	0.0072	0.0031	0.0035	0.0093	0.0030	0.0029	0.0064	0.0054	0.0054	0.0016	0.0015	0.0033	0.0093	0.0024	0	0.0023	0.0023	0.0055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02941	42.53	88	chr11	1097253	.	C	A	42.53	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.965e+00;DP=5501;ExcessHet=0.0000;FS=1.779;InbreedingCoeff=-0.0773;MLEAC=1;MLEAF=0.029;MQ=38.38;MQRankSum=-1.258e+00;QD=0.14;ReadPosRankSum=-1.932e+00;SOR=0.850	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:272,22:294:55:0|1:1097198_G_A:55,0,9405:1097198	16	0	1	4
chr11	1097560	1097564	AACGA	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.0034	0.0020	0.0022	0.0032	0.0020	0.0020	0.0020	0.0019	0.0024	0.0023	0.0035	0.0020	0.0085	0.0032	0.0018	0.0026	0.0023	0.0016	0.0013	0.0012	0.0020	0.0020	0.0013	0.0012	0.0016	0.0014	0.0013	0.0035	0.0018	0.0011	0.0016	0.0008	0	0.0020	0.0011	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	49.03	172	chr11	1097559	.	CAACGA	C,*	49.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.02;DP=3902;ExcessHet=0.1072;FS=1.659;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=51.22;MQRankSum=-8.040e+00;QD=0.16;ReadPosRankSum=-3.922e+00;SOR=0.518	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,30,0:124:63:.:.:63,0,3408,349,3437,3813	19	0	1	0
chr11	1097559	1097564	CAACGA	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	49.03	172	chr11	1097559	.	CAACGA	C,*	49.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.02;DP=3902;ExcessHet=0.1072;FS=1.659;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=51.22;MQRankSum=-8.040e+00;QD=0.16;ReadPosRankSum=-3.922e+00;SOR=0.518	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,30,0:124:63:.:.:63,0,3408,349,3437,3813	19	0	1	0
chr11	1097560	1097560	A	0	exonic	MUC2	.	.	.	.	.	36	182	1	1	6	9	0.00817439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	502.64	172	chr11	1097560	.	A	C,*	502.64	.	AC=3,2;AF=0.094,0.063;AN=32;BaseQRankSum=2.96;DP=3898;ExcessHet=0.0454;FS=0.723;InbreedingCoeff=0.1765;MLEAC=3,2;MLEAF=0.094,0.063;MQ=33.04;MQRankSum=0.067;QD=1.50;ReadPosRankSum=-2.820e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:94,0,30:124:63:.:.:63,349,3813,0,3437,3408	12	1	1	5
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	0/1:94,30,0:124:63:.:.:63,0,3408,349,3437,3813	7	0	3	9
chr11	1097563	1097563	G	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	650	853	10	3	6	22	0.00929152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283237635	0.0067	0.0062	0.0063	0.0072	0.0186	0.0066	0.0065	0.0153	0.0140	0.0012	0.0033	0.0108	0.0003	0.0068	0.0186	0.0074	0.0061	0.0043	0.0032	0.0046	0.0031	0.0033	0.0055	0.0028	0.0026	0.0047	0.0044	0.0008	0.0049	0.0023	0.0065	0.0004	0.0014	0	0.0055	0.0082	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1053	1930.44	172	chr11	1097563	.	G	A,*	1930.44	.	AC=2,2;AF=0.053,0.053;AN=38;BaseQRankSum=1.72;DP=3756;ExcessHet=0.0082;FS=1.823;InbreedingCoeff=0.2675;MLEAC=2,2;MLEAF=0.053,0.053;MQ=54.30;MQRankSum=-1.506e+00;QD=5.01;ReadPosRankSum=0.719;SOR=0.820	GT:AD:DP:GQ:PL	0/2:94,0,30:124:63:63,349,3813,0,3437,3408	16	1	0	2
chr11	1097563	1097563	G	0	exonic	MUC2	.	.	.	.	.	650	853	10	3	6	22	0.00929152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1930.44	172	chr11	1097563	.	G	A,*	1930.44	.	AC=2,2;AF=0.053,0.053;AN=38;BaseQRankSum=1.72;DP=3756;ExcessHet=0.0082;FS=1.823;InbreedingCoeff=0.2675;MLEAC=2,2;MLEAF=0.053,0.053;MQ=54.30;MQRankSum=-1.506e+00;QD=5.01;ReadPosRankSum=0.719;SOR=0.820	GT:AD:DP:GQ:PL	0/2:94,0,30:124:63:63,349,3813,0,3437,3408	16	1	0	2
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	0/1:234,24,0:258:99:.:.:230,0,9197,932,9269,10201	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	0/1:205,45,0:250:99:.:.:593,0,6372,1206,6506,7712	10	0	7	3
chr11	1098812	1098812	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1962.92	133	chr11	1098812	.	C	A,*	1962.92	.	AC=9,3;AF=0.250,0.083;AN=36;BaseQRankSum=2.08;DP=3561;ExcessHet=9.6308;FS=3.400;InbreedingCoeff=-0.4724;MLEAC=10,3;MLEAF=0.278,0.083;MQ=36.45;MQRankSum=0.209;QD=1.00;ReadPosRankSum=-2.579e+00;SOR=1.127	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,22,0:243:89:0|1:1098812_C_A:89,0,8943,753,9008,9761:1098812	6	0	9	3
chr11	1098813	1098813	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1884.38	133	chr11	1098813	.	C	*,T	1884.38	.	AC=3,9;AF=0.083,0.250;AN=36;BaseQRankSum=2.50;DP=3551;ExcessHet=9.6308;FS=3.047;InbreedingCoeff=-0.4710;MLEAC=3,10;MLEAF=0.083,0.278;MQ=36.42;MQRankSum=-1.580e-01;QD=0.91;ReadPosRankSum=-2.579e+00;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:223,0,22:245:83:0|1:1098812_C_A:83,753,9774,0,9022,8957:1098812	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	1/1:2,136,0:138:99:.:.:4746,346,0,4043,417,4317	0	15	0	0
chr11	1102596	1102596	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.898	P	0.472	P	.	.	1.000	N	0.35	N	0.68	T	-1.006	T	0.081	T	0.162	1.688	11.60	-0.785	-0.008	0.044	13.781	0.102	0.00882366438609	.	.	5.026e-05	0.0001	8.679e-05	0	0	6.098e-05	0	0	3.88e-05	6	154602	rs779527580	6.026e-05	6.02e-05	6.404e-05	5.644e-05	0.0002	4.966e-05	4.631e-05	5.623e-05	5.196e-05	5.974e-05	2.236e-05	0	7.557e-05	0	0.0002	6.926e-05	6.628e-05	0	5.254e-05	5.252e-05	3.852e-05	6.721e-05	0.0001	2.556e-05	1.829e-05	3.761e-05	2.574e-05	0	0	0.0001	0	0	0	0	8.817e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999992	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0062	0.28095	T	0.081	0.32090	T	9	0.10357955	0.19048	T	0.008824	0.23269	T	.	.	.	.	.	.	0.2156394443519796	0.21479	.	.	0.458770096302	0.33141	T	0.026614	0.19659	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.23952	B	.	.	1.863782	0.23674	16.11	0.98494126503951751	0.42132	0.19307	0.20609	N	AEFDBI	0.228325	0.35201	N	-0.625924883890172	0.18168	0.9410923	-0.726032395337505	0.16313	0.8624128	0.017691220320077	0.12979	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.95	-0.785	0.10397	-0.145000	0.10248	-1.465000	0.05378	0.467000	0.21759	0.001000	0.13787	0.000000	0.08366	0.965000	0.52897	0.6681:0.3319:0.0:0.0	13.781	0.62569	970	0.06235	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D 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	1388.98	33	chr11	1102596	.	C	G	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.785e+00;DP=853;ExcessHet=0.0000;FS=8.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=0.609;SOR=1.440	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,58:125:99:1|0:1102586_C_T:1403,0,2594:1102586	20	0	1	0
chr11	1184497	1184497	C	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C6352A:p.P2118T,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403306679	6.078e-06	1.272e-05	4.346e-06	7.591e-06	3.651e-05	1.62e-06	4.5e-07	1.15e-06	4.3e-07	0	3.651e-05	0	0	0	0	6.91e-06	0	0	1.971e-05	1.97e-05	2.57e-05	1.345e-05	6.544e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.544e-05	0	0	0	0	2.94e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.17039624	0.31701	T	.	.	.	.	.	.	.	.	.	0.13737709937010462	0.13661	.	.	.	.	.	0.511669	0.82748	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.302	0.81288	D	.	.	0.206	0.43227	B	.	.	1.066217	0.14482	11.05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.105000	0.10876	1.589000	0.27519	0.429000	0.20894	0.000000	0.06391	0.002000	0.18203	0.012000	0.09680	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5542.98	114	chr11	1184497	.	C	A	5542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=3172;ExcessHet=0.0000;FS=2.479;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.80;MQRankSum=-1.762e+00;QD=12.46;ReadPosRankSum=-6.150e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/1:227,218:445:99:5557,0,5778	20	0	1	0
chr11	1254776	1254776	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon35:c.G15560A:p.R5187H,	.	.	407	1088	26	1	0	28	0.0127042	.	.	496969	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.469	P	0.086	B	.	.	1.000	N	1.67	L	0.23	T	-0.943	T	0.128	T	0.172	0.833	8.358	0.676	0.325	-1.842	3.261	0.088	.	0.0012	0.00319489	0.0028	0.0001	0.0009	0	0	0.0026	0.0034	0.0087	0.0025938	401	154602	rs201530874	0.0020	0.0020	0.0016	0.0023	0.0139	0.0019	0.0019	0.0114	0.0105	0.0004	0.0015	0.0172	0	0.0001	0.0139	0.0012	0.0033	0.0085	0.0021	0.0021	0.0020	0.0022	0.0102	0.0019	0.0018	0.0079	0.0071	0.0002	0	0.0031	0.0190	0.0002	0	0.0238	0.0020	0.0028	0.0102	0.549	0.06606	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.955	0.23872	L	0.23	0.59717	T	-0.07	0.08033	N	0.26	0.29429	-0.9434	0.42073	T	0.128	0.43605	T	9	0.0056170225	0.00125	T	.	.	.	0.088	0.25558	.	.	0.229543500084	0.22568	0.49850178030556436	0.49771	.	.	0.201641201973	0.00506	T	0.013289	0.11520	T	-0.532738	0.00370	T	-0.532045	0.19083	T	0.0109296992694224	0.00157	T	0.49905	0.15565	T	0.03054761	0.02737	0.03566126	0.02861	0.03054761	0.02736	0.03566126	0.02861	-3.371	0.14669	T	.	.	0.076	0.06114	B	.	.	0.904501	0.12785	9.303	0.59249882375432639	0.06180	0.06154	0.12135	N	AEFBCI	0.064271	0.12470	N	-0.774044062322131	0.13989	0.6932659	-0.907556955658707	0.11916	0.6099491	8.25008338032791E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.98	0.676	0.17125	-1.365000	0.02694	-2.084000	0.04237	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3387:0.0:0.4753:0.186	3.261	0.06444	946	0.12043	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2065.98	35	chr11	1254776	.	G	A	2065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=927;ExcessHet=0.0000;FS=5.011;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=2.28;SOR=1.046	GT:AD:DP:GQ:PL	0/1:106,90:196:99:2080,0,2346	20	0	1	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	48108.27	39	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T,*	48108.27	.	AC=16,11;AF=0.381,0.262;AN=42;BaseQRankSum=-2.940e-01;DP=3975;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=16,11;MLEAF=0.381,0.262;MQ=58.70;MQRankSum=-5.308e+00;QD=15.77;ReadPosRankSum=0.914;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:123,74,0:197:99:.:.:2446,0,4604,2816,4837,7653	3	3	5	0
chr11	1754122	1754122	C	T	exonic	CTSD	.	nonsynonymous SNV	CTSD:NM_001909:exon7:c.G844A:p.G282R,	Ceroid lipofuscinosis, neuronal, 10, Autosomal recessive	.	0	1426	88	8	0	104	0.0351827	.	.	134325	Neuronal_ceroid_lipofuscinosis|Neuronal_ceroid_lipofuscinosis_10|not_specified|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MONDO:MONDO:0012414,MedGen:C1864669,OMIM:610127,Orphanet:228337|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.34	T	0.011	B	0.014	B	0.433	N	0.947	N	1.185	L	0.42	T	-1.025	T	0.079	T	0.341	1.763	11.85	2.13	0.390	0.659	8.659	0.033	.	0.0045	0.0061901	0.0101	0.0008	0.0024	0.0003	0.0377	0.0087	0.0142	0.0224	0.0080594	1246	154602	rs147278302	0.0068	0.0068	0.0060	0.0076	0.0229	0.0067	0.0066	0.0211	0.0207	0.0006	0.0028	0.0135	0.0001	0.0320	0.0229	0.0048	0.0068	0.0219	0.0070	0.0070	0.0057	0.0084	0.0209	0.0066	0.0065	0.0176	0.0164	0.0008	0	0.0022	0.0136	0.0002	0.0360	0.0204	0.0066	0.0057	0.0209	0.232	0.18626	T	0.43	0.13713	T	0.011	0.15914	B	0.014	0.16862	B	0.432569	0.12729	N	0.767787	0.946974	0.26614	N	1.1	0.28011	L	0.42	0.56937	T	-0.76	0.25986	N	0.291	0.32921	-1.0254	0.21952	T	0.079	0.31405	T	10	0.0025467277	0.00039	T	.	.	.	0.033	0.08068	0.166	0.07071	0.511220899679	0.50763	0.4915701163374237	0.49078	0.63775699092	0.57515	0.327924966812	0.14620	T	0.242323	0.61104	T	-0.454566	0.01061	T	-0.409472	0.32285	T	0.0055011973655921	0.00060	T	0.933807	0.75196	D	0.17140512	0.37772	0.091029905	0.21379	0.17140512	0.37771	0.091029905	0.21379	-10.109	0.74562	D	0.14159384124689586	0.15943	0.272	0.55774	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.713385	0.21816	15.36	0.96623031341708565	0.30488	0.12184	0.17112	N	AEFDBCI	0.269038	0.38540	N	-0.777187391856778	0.13905	0.6885494	-0.763047824866904	0.15402	0.8098793	0.999408125914284	0.39524	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.25	2.13	0.26445	0.777000	0.26379	-0.030000	0.12807	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.770000	0.36519	0.0:0.754:0.149:0.097	8.659	0.33241	982	0.03397	.;.;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1422.98	34	chr11	1754122	.	C	T	1422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.831;DP=1003;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-6.840e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/1:56,63:119:99:1437,0,1133	20	0	1	0
chr11	2299635	2299635	-	G	exonic	C11orf21	.	frameshift insertion	C11orf21:NM_001329958:exon3:c.219dupC:p.T74Hfs*4	.	.	414	1103	5	0	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00499201	0.0020	0	0	0.0257	0	0.0006	0.0049	0.0025	0.0005369	83	154602	rs3214127	0.0012	0.0012	0.0011	0.0013	0.0377	0.0012	0.0012	0.0360	0.0353	0	0.0001	0.0019	0.0377	0	0.0005	9.083e-05	0.0015	0.0018	0.0013	0.0014	0.0011	0.0016	0.0338	0.0012	0.0011	0.0297	0.0281	0	0	6.536e-05	0.0020	0.0338	0	0	0.0002	0.0005	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1276.94	35	chr11	2299635	.	T	TG	1276.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=769;ExcessHet=0.0000;FS=2.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.96;ReadPosRankSum=-4.050e-01;SOR=0.525	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1291,0,1080	20	0	1	0
chr11	2922506	2922506	A	G	exonic	SLC22A18	.	nonsynonymous SNV	SLC22A18:NM_001315502:exon8:c.A743G:p.N248S	Breast cancer, somatic;Lung cancer, somatic;Rhabdomyosarcoma, somatic	.	7	1512	3	0	0	3	0.00099108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.562	P	0.268	B	0.006	N	1.000	N	2.125	M	0.4	T	-0.750	T	0.345	T	0.33	0.720	7.830	3.63	0.704	2.101	4.035	0.244	0.117548589647	7.7e-05	.	8.828e-06	0	0	0	0	0	0	6.478e-05	6.5e-06	1	154602	rs143509928	4.107e-06	4.104e-06	2.724e-06	5.504e-06	4.644e-05	1.48e-06	9.7e-07	1.584e-05	9.31e-06	0	0	0	0	0	0	8.994e-07	1.657e-05	4.644e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.26629	T	0.109	0.39190	T	0.097	0.38380	B	0.056	0.39801	B	0.005938	0.32398	N	0.288442	0.999995	0.08975	N	2.065	0.56745	M	-1.42	0.80645	T	-1.99	0.56945	N	0.466	0.51226	-0.7497	0.57951	T	0.345	0.70996	T	10	0.18368408	0.33707	T	0.117549	0.79735	D	0.244	0.55061	.	.	0.803246272748	0.80140	0.24764755615228815	0.24678	0.21105830166	0.23610	0.545429646969	0.45212	T	0.004715	0.04123	T	-0.00425815	0.51066	T	-0.243893	0.50417	T	0.177340939640999	0.19066	T	0.788921	0.44280	T	0.058431935	0.11754	0.058048602	0.10660	0.058431935	0.11753	0.058048602	0.10660	-4.131	0.25745	T	.	.	0.128	0.27373	B	.;.;.;.;.	.;.;.;.;.	1.266732	0.16649	12.68	0.97170742062610493	0.32673	0.60470	0.31205	D	AEFDBI	0.284379	0.39725	N	-0.299505146179327	0.29167	1.615113	-0.243187699455136	0.30007	1.685839	0.665632040532872	0.22319	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.75	3.63	0.40741	1.748000	0.37935	2.537000	0.33196	0.740000	0.86194	0.986000	0.36153	0.874000	0.27626	0.303000	0.24570	0.6296:0.1813:0.1891:0.0	4.035	0.09209	970	0.06235	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	505.98	39	chr11	2922506	.	A	G	505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.690e-01;DP=800;ExcessHet=0.0000;FS=0.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.32;ReadPosRankSum=0.081;SOR=0.774	GT:AD:DP:GQ:PL	0/1:52,28:80:99:520,0,1209	20	0	1	0
chr11	4488904	4488904	C	T	exonic	OR52K1	.	nonsynonymous SNV	OR52K1:NM_001005171:exon2:c.C4T:p.L2F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.052	B	0.033	B	0.833	N	1.000	N	0.915	L	1.16	T	-0.999	T	0.037	T	0.164	-0.591	1.351	-8.76	-1.815	-4.083	0.705	0.045	0.0148460034166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.779	0.04344	T	0.052	0.22494	B	0.033	0.22329	B	0.833192	0.06954	N	1.116690	0.999999	0.08975	N	0.635	0.15989	N	1.16	0.38073	T	-0.76	0.21215	N	0.071	0.04426	-0.9991	0.30171	T	0.037	0.15899	T	10	0.047613025	0.04102	T	0.014846	0.35231	T	0.045	0.12272	0.215	0.13498	0.0611884634855	0.05136	0.14371815121218293	0.14294	.	.	0.283620834351	0.08002	T	0.001751	0.01176	T	-0.288412	0.09796	T	-0.652061	0.08811	T	0.0666449882505786	0.08172	T	0.332567	0.07018	T	0.040492512	0.05791	0.03574162	0.02884	0.040492512	0.05790	0.03574162	0.02883	-4.337	0.28692	T	.	.	0.059	0.01059	B	.;.	.;.	-1.592832	0.00244	0.004	0.20019671462553745	0.00702	0.00621	0.02743	N	AEFBI	0.023867	0.01392	N	-1.71552709541866	0.00788	0.03404736	-1.84543066948755	0.00624	0.02775362	0.999441884986545	0.39736	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	-8.76	0.00718	-4.492000	0.00259	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4067:0.2121:0.1944:0.1868	0.705	0.00856	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	605.95	69	chr11	4488904	.	C	G,T	605.95	.	AC=5,3;AF=0.125,0.075;AN=40;BaseQRankSum=-2.135e+00;DP=2224;ExcessHet=3.5521;FS=176.401;InbreedingCoeff=-0.2568;MLEAC=5,3;MLEAF=0.125,0.075;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=0.714;SOR=12.957	GT:AD:DP:GQ:PL	0/2:59,13,22:94:50:50,101,1025,0,846,900	12	0	5	1
chr11	5454368	5454368	G	A	exonic	OR51I2	.	nonsynonymous SNV	OR51I2:NM_001004754:exon1:c.G880A:p.A294T,	.	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.008	B	0.003	B	0.003	N	0.984	N	1.7	L	1.22	T	-1.012	T	0.057	T	0.218	0.713	7.797	3.61	0.885	-0.679	7.716	0.059	0.0110459718147	0.0058	0.00259585	0.0053	0.0012	0.0023	0.0003	0.0051	0.0080	0.0033	0.0019	0.005194	803	154602	rs139102367	0.0068	0.0068	0.0070	0.0066	0.0133	0.0067	0.0066	0.0109	0.0101	0.0013	0.0029	0.0002	0.0013	0.0058	0.0133	0.0079	0.0065	0.0022	0.0054	0.0054	0.0057	0.0051	0.0081	0.0051	0.0050	0.0075	0.0073	0.0018	0	0.0080	0	0.0006	0.0043	0.0136	0.0081	0.0066	0.0017	0.018	0.50676	D	0.01	0.65728	D	0.008	0.14655	B	0.003	0.08700	B	0.002895	0.35770	N	0.197073	0.983774	0.40057	D	1.27	0.32069	L	1.22	0.37052	T	-0.1	0.08495	N	0.174	0.18649	-1.0122	0.26228	T	0.057	0.24130	T	10	0.0054678023	0.00121	T	0.011046	0.28270	T	0.059	0.16972	.	.	0.202086224978	0.19791	0.05591651426033309	0.05532	0.0085942019034	0.00777	0.201415508986	0.00499	T	0.00103	0.00564	T	-0.5777	0.00199	T	-0.595353	0.13205	T	0.00633887358148472	0.00070	T	0.649435	0.26018	T	0.087157644	0.20285	0.19217558	0.42717	0.087157644	0.20285	0.19217558	0.42716	-4.455	0.30296	T	.	.	0.098	0.16319	B	.;.	.;.	1.943272	0.24685	16.49	0.90722555318189568	0.19972	0.29547	0.23850	N	AEFBCI	0.249450	0.36968	N	-0.832554428285813	0.12483	0.608775	-0.772966009526977	0.15159	0.7958556	0.963517943279825	0.28696	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.45	3.61	0.40494	-1.068000	0.03558	.	.	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.249:0.0:0.751:0.0	7.716	0.27872	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2402.98	36	chr11	5454368	.	G	A	2402.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.650e+00;DP=1122;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.74;ReadPosRankSum=1.05;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,92:163:99:1|0:5454367_C_T:2417,0,2648:5454367	20	0	1	0
chr11	5507629	5507629	C	T	exonic	UBQLN3	.	nonsynonymous SNV	UBQLN3:NM_001347096:exon2:c.G1930A:p.D644N	.	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.634	P	0.2	B	0.002	N	1.000	D	0.95	L	2.25	T	-1.029	T	0.030	T	0.102	2.909	15.69	3.27	0.867	2.464	10.955	0.090	.	.	0.00838658	0.0048	9.789e-05	0.0008	0	0	9.133e-05	0.0034	0.0362	0.0040426	625	154602	rs200545596	0.0021	0.0021	0.0012	0.0031	0.0335	0.0021	0.0021	0.0325	0.0321	0.0002	0.0001	0	7.56e-05	0	0.0005	5.94e-05	0.0026	0.0335	0.0013	0.0013	0.0007	0.0019	0.0378	0.0011	0.0011	0.0333	0.0316	4.812e-05	0	0	0	0	9.42e-05	0	8.82e-05	0.0005	0.0378	0.026	0.46910	D	0.04	0.50809	D	0.634	0.40281	P	0.2	0.36839	B	0.002457	0.36537	N	0.122533	1	0.81001	D	0.41	0.12415	N	2.25	0.17761	T	-4.28	0.76334	D	0.244	0.27554	-1.0293	0.20681	T	0.030	0.13023	T	10	0.0070008636	0.00159	T	.	.	.	0.090	0.26093	.	.	0.365509141856	0.36162	0.49459139867246676	0.49380	0.0211555233201	0.02094	0.398621231318	0.24877	T	0.025852	0.19251	T	-0.634952	0.00089	T	-0.659079	0.08329	T	0.0755802667233008	0.09413	T	0.988501	0.96026	D	0.13215485	0.30781	0.13410978	0.32144	0.13215485	0.30781	0.13410978	0.32143	-4.002	0.23834	T	.	.	0.097	0.15698	B	.	.	2.280723	0.29163	18.03	0.99810393216649662	0.89442	0.80349	0.40010	D	AEFBCI	0.332261	0.43173	N	-0.212619518028817	0.32616	1.841296	-0.218118232080288	0.30887	1.742984	0.999998539221495	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.14	3.27	0.36580	2.818000	0.47741	.	.	-0.190000	0.09434	0.988000	0.36536	0.546000	0.25442	0.033000	0.13494	0.0:0.8797:0.0:0.1203	10.955	0.46564	682	0.59757	Ubiquitin-associated domain|Ubiquitin-associated domain|Ubiquitin-associated 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	1757.98	36	chr11	5507629	.	C	T	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=846;ExcessHet=0.0000;FS=2.224;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.896;SOR=0.496	GT:AD:DP:GQ:PL	0/1:63,68:131:99:1772,0,1479	20	0	1	0
chr11	5947360	5947360	G	A	exonic	OR56A3	.	nonsynonymous SNV	OR56A3:NM_001003443:exon1:c.G14A:p.R5Q,	.	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.0	B	0.0	B	0.933	N	1.000	N	0	N	1.2	T	-1.005	T	0.037	T	0.099	-0.044	3.792	-5.52	-0.839	-1.190	8.137	0.022	0.00129720905383	7.8e-05	.	0.0003	0	0.0024	0	0	1.534e-05	0	0	0.000194	30	154602	rs372649269	6.992e-05	7.524e-05	7.966e-05	6.002e-05	0.0014	5.849e-05	5.456e-05	0.0011	0.0010	6.083e-05	0.0014	0.0004	0	0	0	2.27e-05	6.723e-05	2.346e-05	8.543e-05	8.538e-05	0.0001	5.381e-05	0.0003	4.958e-05	3.963e-05	8.88e-05	5.388e-05	7.238e-05	0	0.0003	0	0.0002	0	0	5.88e-05	0	0.0002	1.0	0.00964	T	0.675	0.06205	T	0.0	0.02946	B	0.0	0.01387	B	0.933004	0.07547	N	1.034940	1	0.08975	N	-0.145	0.04423	N	1.2	0.37405	T	0.58	0.02598	N	0.017	0.00226	-1.0052	0.28397	T	0.037	0.16160	T	10	0.012346774	0.00266	T	0.001297	0.01809	T	0.022	0.04323	.	.	0.276065633971	0.27208	0.13950535766227104	0.13873	0.093218127879	0.10534	0.21162211895	0.00882	T	0.018335	0.14797	T	-0.657004	0.00066	T	-0.735531	0.04081	T	0.0260538466175855	0.01413	T	0.40026	0.10182	T	0.017643455	0.00290	0.027518827	0.00911	0.017643455	0.00290	0.027518827	0.00911	-3.632	0.18321	T	.	.	0.073	0.04599	B	.;.;.	.;.;.	-0.827932	0.01053	0.045	0.65405615504754644	0.07763	0.00663	0.02868	N	AEFBI	0.035453	0.04568	N	-1.49574698123251	0.01880	0.08246946	-1.54299578586319	0.02025	0.09252993	4.1948078486619E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.75	-5.52	0.02358	-1.237000	0.03032	.	.	-0.685000	0.04181	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3543:0.1407:0.5049:0.0	8.137	0.30221	708	0.56926	.;.;.	.	.	.	.	.	Uncertain significance	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	1360.98	34	chr11	5947360	.	G	A	1360.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=843;ExcessHet=0.0000;FS=1.398;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=-7.860e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/1:80,55:135:99:1375,0,1961	20	0	1	0
chr11	6390704	6390704	G	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	43	1200	222	19	38	298	0.0977444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2978.5	52	chr11	6390704	.	G	GCGC,*	2978.5	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=0.024;DP=1009;ExcessHet=0.0409;FS=0.508;InbreedingCoeff=0.3189;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.059;SOR=0.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,30,0:50:99:.:.:1158,0,753,1221,843,2064	17	0	2	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	1/4:0,20,0,0,30,0:50:99:.:.:2645,1320,1158,2330,1312,2354,2330,1312,2354,2354,666,0,812,812,753,2330,1312,2354,2354,812,2354	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	1/4:0,20,0,0,30,0:50:99:.:.:2645,1320,1158,2330,1312,2354,2330,1312,2354,2354,666,0,812,812,753,2330,1312,2354,2354,812,2354	0	5	0	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.922	P	0.583	P	.	.	1.000	N	0.895	L	-0.82	T	-0.736	T	0.305	T	0.179	1.460	10.83	4.27	2.202	2.147	12.045	0.246	0.037918526582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.966659	0.25884	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36649692	0.53143	T	0.037919	0.57909	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322019556356207	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.08036	0.39657	T	-0.353208	0.38837	T	0.574073241482542	0.35391	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.357286	0.30230	18.37	0.98888292569358716	0.47948	0.86877	0.46256	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	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	0	0	0	0	0	0	0	0.2941	723.45	41	chr11	6564079	.	G	C	723.45	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.656e+00;DP=1725;ExcessHet=6.1002;FS=193.467;InbreedingCoeff=-0.4201;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=1.74;SOR=11.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,18:64:41:.:.:41,0,716	7	0	10	4
chr11	6785743	6785743	A	T	exonic	OR2AG1	.	stopgain	OR2AG1:NM_001004489:exon1:c.A706T:p.K236X,	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.441	23.6	4.32	1.956	4.695	11.793	.	.	.	0.00519169	0.0023	9.612e-05	8.655e-05	0.0002	0	0	0.0011	0.0164	0.0019728	305	154602	rs201084796	0.0009	0.0009	0.0005	0.0013	0.0137	0.0008	0.0008	0.0131	0.0128	5.974e-05	0	0	0	0	0.0007	6.295e-06	0.0014	0.0137	0.0005	0.0006	0.0004	0.0007	0.0168	0.0004	0.0004	0.0138	0.0128	0	0	6.539e-05	0	0.0002	0	0	0	0	0.0168	.	.	.	.	.	.	.	.	.	.	.	.	0.000049	0.53742	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.237	0.26717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275197	0.80900	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;Low	9.664386	0.99190	42	0.99581336188606528	0.73040	0.97336	0.74107	D	AEFGI	0.051799	0.09188	N	0.759485635637196	0.83520	8.039226	0.606721467052145	0.75427	6.309	0.0645296332975208	0.15332	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.32	4.32	0.50899	4.080000	0.57342	10.807000	0.83807	0.713000	0.85321	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	11.793	0.51352	507	0.75469	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	3373.98	204	chr11	6785743	.	A	T	3373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.470e+00;DP=2445;ExcessHet=0.0000;FS=2.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=1.04;QD=14.00;ReadPosRankSum=0.099;SOR=0.618	GT:AD:DP:GQ:PL	0/1:117,124:241:99:3388,0,3106	20	0	1	0
chr11	10559867	10559867	G	C	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731G:p.A244G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	2.62	T	-0.348	T	0.350	T	0.535	4.797	27.1	5.44	2.570	5.738	18.043	0.279	0.035680634441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	0.0001	0.0001	0.0001	9.22e-05	8.745e-05	0.0001	0.0001	3.018e-05	0	3.84e-05	0	0	0	0.0001	8.361e-05	3.493e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999976	0.53665	D	1.995	0.54099	M	2.62	0.57100	T	-2.2	0.74051	N	0.656	0.78072	-0.3484	0.73600	T	0.350	0.71439	T	10	0.7359656	0.74622	D	0.035681	0.56501	D	0.279	0.59619	0.486	0.56939	0.740229456086	0.73790	0.4308752596838396	0.43004	0.43936280621	0.43965	0.555330634117	0.46608	T	0.738373	0.92733	D	0.027231	0.55354	T	-0.198661	0.54773	T	0.952442526817322	0.63793	D	0.80142	0.48765	T	0.3713057	0.58681	0.47502097	0.69577	0.3713057	0.58681	0.47502097	0.69577	-3.975	0.23428	T	.	.	0.29	0.61572	B	.;.	.;.	4.798394	0.77943	26.8	0.99798832104841995	0.88372	0.95259	0.64030	D	AEFI	0.868902	0.78922	D	0.791556132315038	0.85574	8.616862	0.766818552650126	0.87408	9.211633	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2333	480.78	80	chr11	10559867	.	G	C,A	480.78	.	AC=1,6;AF=0.033,0.200;AN=30;BaseQRankSum=-3.132e+00;DP=2242;ExcessHet=2.5830;FS=198.804;InbreedingCoeff=-0.3113;MLEAC=1,7;MLEAF=0.033,0.233;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.321;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:71,0,32:103:83:.:.:83,282,1591,0,1308,1225	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	0/2:71,0,32:103:83:.:.:83,282,1591,0,1308,1225	8	0	1	6
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	3/4:0,0,0,21,29,0,0:50:99:.:.:2267,2191,2181,2191,2181,2181,1221,1224,1224,1147,885,888,888,0,789,2191,2181,2181,1224,888,2181,2191,2181,2181,1224,888,2181,2181	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	3/4:0,0,0,21,29,0,0:50:99:.:.:2267,2191,2181,2191,2181,2181,1221,1224,1224,1147,885,888,888,0,789,2191,2181,2181,1224,888,2181,2191,2181,2181,1224,888,2181,2181	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	3/4:0,0,0,21,29,0,0:50:99:.:.:2267,2191,2181,2191,2181,2181,1221,1224,1224,1147,885,888,888,0,789,2191,2181,2181,1224,888,2181,2191,2181,2181,1224,888,2181,2181	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	3/4:0,0,0,21,29,0,0:50:99:.:.:2267,2191,2181,2191,2181,2181,1221,1224,1224,1147,885,888,888,0,789,2191,2181,2181,1224,888,2181,2191,2181,2181,1224,888,2181,2181	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	3/4:0,0,0,21,29,0,0:50:99:.:.:2267,2191,2181,2191,2181,2181,1221,1224,1224,1147,885,888,888,0,789,2191,2181,2181,1224,888,2181,2191,2181,2181,1224,888,2181,2181	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	3/4:0,0,0,21,29,0,0:50:99:.:.:2267,2191,2181,2191,2181,2181,1221,1224,1224,1147,885,888,888,0,789,2191,2181,2181,1224,888,2181,2191,2181,2181,1224,888,2181,2181	6	0	4	0
chr11	17501054	17501054	G	A	exonic	USH1C	.	nonsynonymous SNV	USH1C:NM_001297764:exon17:c.C1420T:p.H474Y	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive	.	0	1519	2	1	0	4	0.00131492	.	.	918345	not_provided|Usher_syndrome_type_1C|Inborn_genetic_diseases|Autosomal_recessive_nonsyndromic_hearing_loss_18A|Usher_syndrome_type_1|not_specified	MedGen:C3661900|MONDO:MONDO:0010171,MedGen:C1848604,OMIM:276904,Orphanet:231169,Orphanet:886|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011192,MedGen:C1865870,OMIM:602092,Orphanet:90636|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.991	D	0.99	D	0.002	N	1.000	D	1.95	M	1.56	T	-0.896	T	0.183	T	0.802	3.643	18.52	5.27	2.741	7.942	17.838	0.178	0.0368156333547	7.7e-05	.	5.483e-05	0	0	0	0	9.962e-05	0	0	3.88e-05	6	154602	rs372227474	5.613e-05	5.746e-05	5.857e-05	5.366e-05	0.0042	4.613e-05	4.239e-05	0.0029	0.0024	0	0	0	0	0	0.0042	4.588e-05	8.284e-05	2.321e-05	5.251e-05	5.249e-05	6.422e-05	4.027e-05	0.0001	2.555e-05	1.828e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0.0034	0.0001	0	0	0.003	0.91255	D	0.0	0.92824	D	0.991	0.64070	D	0.99	0.78936	D	0.001912	0.37691	N	0.230078	0.999886	0.50402	D	1.905	0.50856	L	1.56	0.29602	T	-2.87	0.62343	D	0.802	0.79792	-0.8962	0.48370	T	0.183	0.53057	T	10	0.75131774	0.75658	D	0.036816	0.57230	D	0.178	0.44724	.	.	0.697512050345	0.69490	0.7534891188033478	0.75295	0.412284758996	0.41973	0.696432709694	0.66629	T	0.217512	0.57998	T	-0.0460403	0.45046	T	-0.0885751	0.64270	T	0.416295014187817	0.29553	T	0.958704	0.85096	D	0.4117519	0.61538	0.3995185	0.64513	0.4117519	0.61538	0.3995185	0.64513	-8.618	0.65778	D	.	.	0.508	0.69115	A	.;.;.;.	.;.;.;.	4.564832	0.71961	25.8	0.99768482520986057	0.85666	0.97255	0.73611	D	AEFDBI	0.955033	0.97257	D	0.497460350861354	0.66941	5.015858	0.504125274649023	0.68267	5.196595	0.999999999729673	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	7.925000	0.86993	11.619000	0.93604	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.114000	0.18915	0.0:0.0:1.0:0.0	17.838	0.88618	835	0.38313	PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1200.98	34	chr11	17501054	.	G	A	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.471e+00;DP=835;ExcessHet=0.0000;FS=2.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=-1.317e+00;SOR=0.703	GT:AD:DP:GQ:PL	0/1:77,53:130:99:1215,0,2020	20	0	1	0
chr11	31789914	31789915	TT	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729_730del:p.K244Gfs*7	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	2/3:8,5,9,12:34:23:322,147,562,23,230,220,53,75,0,132	0	0	0	0
chr11	31789915	31789915	T	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729delA:p.K244Rfs*29	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	2/3:8,5,9,12:34:23:322,147,562,23,230,220,53,75,0,132	0	0	0	0
chr11	32954076	32954076	T	C	exonic	QSER1	.	nonsynonymous SNV	QSER1:NM_001076786:exon5:c.T4397C:p.I1466T,	.	.	423	1086	12	1	0	14	0.00640439	.	.	3308356	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.425	M	1.64	T	-0.259	T	0.405	T	0.902	4.537	24.5	5.92	2.267	7.698	16.371	0.366	0.0379090316982	0.0014	0.000399361	0.0015	0.0008	0.0010	0	0	0.0017	0	0.0024	0.0015071	233	154602	rs201036288	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0028	0.0004	0.0011	0	2.519e-05	0.0001	0.0014	0.0029	0.0028	0.0024	0.0012	0.0012	0.0014	0.0010	0.0021	0.0011	0.0010	0.0018	0.0017	0.0006	0	0.0009	0.0003	0	0	0.0034	0.0021	0.0014	0.0010	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.946	0.68276	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	1.64	0.27822	T	-3.07	0.63207	D	0.759	0.75742	-0.2594	0.76104	T	0.405	0.75487	T	10	0.01822859	0.00395	T	0.037909	0.57903	D	0.366	0.68582	.	.	0.187035705434	0.18338	0.45836074342984634	0.45754	0.509821056662	0.49115	0.468420743942	0.34463	T	0.217508	0.57997	T	-0.0463307	0.45003	T	0.158567	0.80718	D	0.0213190037330168	0.00834	T	0.956004	0.83260	D	0.47408083	0.65540	0.49491948	0.70789	0.47408083	0.65541	0.49491948	0.70790	-3.436	0.15545	T	.	.	0.497	0.64426	A	.;.	.;.	4.407633	0.68162	25.2	0.99879176132692116	0.95572	0.98661	0.85270	D	AEFBI	0.888606	0.82190	D	0.531078852286149	0.68938	5.28653	0.598988692807381	0.74867	6.210746	0.999999980872158	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	7.674000	0.83146	6.158000	0.54298	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.371	0.83195	369	0.84396	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2303.98	41	chr11	32954076	.	T	C	2303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.434;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=-1.265e+00;SOR=0.712	GT:AD:DP:GQ:PL	0/1:61,90:151:99:2318,0,1415	20	0	1	0
chr11	48127926	48127926	G	A	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon7:c.G1240A:p.V414I	Colon cancer, somatic	.	0	1499	22	1	0	24	0.00794176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.903	P	0.234	B	.	.	1.000	N	1.845	L	0.26	T	-1.006	T	0.118	T	0.026	1.611	11.34	0.689	0.186	-0.175	3.736	0.039	0.0116705615504	0.0004	0.00119808	0.0015	9.614e-05	0.0012	0.0003	0	0.0018	0.0044	0.0024	0.0013713	212	154602	rs140746006	0.0013	0.0013	0.0012	0.0014	0.0049	0.0013	0.0013	0.0034	0.0030	0.0001	0.0005	0.0114	0.0004	5.616e-05	0.0049	0.0011	0.0015	0.0026	0.0011	0.0011	0.0012	0.0009	0.0029	0.0009	0.0009	0.0018	0.0014	0.0002	0.0230	0.0007	0.0101	0.0006	0	0.0068	0.0009	0.0019	0.0029	0.096	0.35918	T	0.594	0.40110	T	0.059	0.23051	B	0.06	0.26717	B	.	.	.	.	1	0.08975	N	1.25	0.31749	L	0.26	0.59314	T	-0.62	0.18248	N	0.043	0.01825	-1.0061	0.28126	T	0.118	0.41495	T	9	0.0033520758	0.00058	T	0.011671	0.29526	T	0.039	0.10176	.	.	0.328222422547	0.32431	0.2921843347707631	0.29131	0.208503196432	0.23322	0.294899940491	0.09643	T	0.06741	0.44670	T	-0.617045	0.00115	T	-0.664977	0.07935	T	0.000985619673784683	0.00009	T	0.349965	0.09588	T	0.02441966	0.01271	0.03101305	0.01631	0.025697712	0.01537	0.03845338	0.03716	-4.763	0.37950	T	.	.	0.094	0.16451	B	.;.;.;.	.;.;.;.	-0.151438	0.03348	0.591	0.90513917160501089	0.19770	0.04068	0.09521	N	AEFDGBI	0.041382	0.06283	N	-0.968431354754305	0.09283	0.4387319	-1.0398285619423	0.08919	0.4410208	0.997113070358759	0.35288	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	0.689	0.17197	-0.159000	0.10043	.	.	-0.722000	0.03793	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2492:0.0:0.3978:0.353	3.736	0.08038	137	0.94565	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2453.98	35	chr11	48127926	.	G	A	2453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=928;ExcessHet=0.0000;FS=2.285;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.359;SOR=0.554	GT:AD:DP:GQ:PL	0/1:126,100:226:99:2468,0,2996	20	0	1	0
chr11	54603676	54603676	G	A	exonic	OR4C46	.	nonsynonymous SNV	OR4C46:NM_001004703:exon1:c.C323T:p.A108V,	.	.	428	1078	15	1	0	17	0.00782329	.	.	2816628	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.768	P	0.461	P	0.182	N	1.000	N	3.135	M	5.61	T	-1.018	T	0.007	T	0.484	-0.071	3.652	0.648	0.458	-0.978	4.674	0.109	0.00083339266817	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs141105102	0.0073	0.0073	0.0075	0.0071	0.0108	0.0072	0.0072	0.0086	0.0081	0.0025	0.0031	0.0033	2.519e-05	0.0101	0.0108	0.0083	0.0055	0.0028	0.0058	0.0058	0.0061	0.0054	0.0079	0.0054	0.0053	0.0074	0.0072	0.0023	0.0440	0.0029	0.0014	0	0.0113	0.0170	0.0079	0.0043	0.0035	0.502	0.07695	T	0.69	0.05920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.94	0.00616	T	-1.59	0.38345	N	0.051	0.02272	.	.	.	.	.	.	.	0.0044759214	0.00092	T	.	.	.	.	.	.	.	.	.	0.839252078042215	0.83885	.	.	.	.	.	0.005303	0.04751	T	.	.	.	.	.	.	.	.	.	0.50065	0.15660	T	.	.	.	.	.	.	.	.	-5.348	0.40415	T	.	.	0.100	0.17189	B	.	.	0.743669	0.11133	7.775	.	.	.	.	.	.	0.027643	0.02294	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.014000	0.12594	.	.	-1.045000	0.01654	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	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	0.02381	1868.98	119	chr11	54603676	.	G	A	1868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.955e+00;DP=2315;ExcessHet=0.0000;FS=4.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.62;MQRankSum=-8.600e-02;QD=13.16;ReadPosRankSum=0.360;SOR=0.821	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1883,0,2095	20	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	653.59	237	chr11	56375950	.	A	G,*	653.59	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=5.82;DP=5436;ExcessHet=36.0830;FS=3.202;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=-1.131e+00;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:205,0,60:265:99:0|1:56375918_A_G:1902,2519,11127,0,8608,8427:56375918	2	0	2	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	440.62	237	chr11	56375951	.	T	G,*	440.62	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.55;DP=5427;ExcessHet=36.0830;FS=3.220;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.09;ReadPosRankSum=-1.200e+00;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:205,0,60:265:99:0|1:56375918_A_G:1902,2519,11127,0,8608,8427:56375918	1	0	3	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	822.68	237	chr11	56375953	.	A	T,*	822.68	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.15;DP=5417;ExcessHet=36.0830;FS=3.217;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=-4.650e-01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:205,0,60:265:99:0|1:56375918_A_G:1902,2519,11127,0,8608,8427:56375918	1	0	3	1
chr11	59861593	59861593	C	T	exonic	TCN1	.	nonsynonymous SNV	TCN1:NM_001062:exon4:c.G490A:p.A164T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.001	B	0.001	B	0.336	N	1.000	N	-0.6	N	1.32	T	-1.040	T	0.024	T	0.033	-0.604	1.304	-8.08	-0.922	-1.490	0.213	0.080	0.00200100236893	.	0.000399361	6.59e-05	9.61e-05	0	0.0001	0	7.493e-05	0	6.056e-05	7.12e-05	11	154602	rs77116206	3.147e-05	3.147e-05	2.45e-05	3.85e-05	0.0002	2.412e-05	2.158e-05	2.995e-05	2.038e-05	5.974e-05	4.472e-05	0	2.52e-05	3.744e-05	0.0002	2.698e-05	3.312e-05	6.956e-05	5.912e-05	5.906e-05	7.712e-05	4.03e-05	8.821e-05	3.076e-05	2.209e-05	3.762e-05	2.575e-05	2.408e-05	0	6.536e-05	0	0	9.429e-05	0	8.821e-05	0	0	0.809	0.03044	T	0.655	0.06621	T	0.001	0.07471	B	0.001	0.04355	B	0.336276	0.04160	N	1.470240	1	0.08975	N	-1.115	0.00953	N	1.32	0.35219	T	-0.2	0.10136	N	0.058	0.02964	-1.0399	0.17343	T	0.024	0.10058	T	10	0.027322263	0.00880	T	0.002001	0.03615	T	0.080	0.23350	.	.	0.128392430309	0.12331	0.06623236863472835	0.06562	0.015659296278	0.01497	0.322677075863	0.13826	T	0.010645	0.09594	T	-0.557212	0.00264	T	-0.856645	0.00880	T	0.0341730825603008	0.02667	T	0.347765	0.07665	T	0.05061911	0.09171	0.042971984	0.05241	0.05061911	0.09171	0.042971984	0.05241	-3.276	0.13429	T	.	.	0.065	0.02038	B	.	.	-1.119676	0.00617	0.016	0.23262274505006184	0.00975	0.00252	0.01388	N	AEFBI	0.018053	0.00518	N	-2.07153816109259	0.00148	0.006328727	-2.08421172795135	0.00202	0.008880346	0.999271559193719	0.38974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.633917	0.49826	0	.	.	5.12	-8.08	0.00965	-1.512000	0.02362	-3.215000	0.02964	-1.894000	0.00530	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2916:0.245:0.2362:0.2272	0.213	0.00147	730	0.54327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	973.98	33	chr11	59861593	.	C	T	973.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.073e+00;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.514;SOR=0.786	GT:AD:DP:GQ:PL	0/1:43,43:86:99:988,0,1023	20	0	1	0
chr11	61429820	61429820	G	C	exonic	CPSF7	.	nonsynonymous SNV	CPSF7:NM_024811:exon1:c.C11G:p.P4R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.21	B	0.068	B	.	.	1.000	D	.	.	.	.	-0.894	T	0.140	T	0.098	2.582	14.60	2.49	0.975	-0.386	8.495	0.051	0.517106838397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.21	0.29968	B	0.068	0.27651	B	.	.	.	.	0.999998	0.58761	D	.	.	.	.	.	.	-0.02	0.07299	N	0.127	0.12055	-0.8941	0.48567	T	0.140	0.45847	T	7	0.14093202	0.26783	T	0.517107	0.95390	D	0.051	0.14325	0.22	0.14224	0.110392049598	0.10638	0.4174082070352745	0.41656	0.805347081922	0.66429	0.82470703125	0.85751	D	.	.	.	-0.0864779	0.38654	T	-0.361996	0.37820	T	0.496525049209595	0.32503	T	0.327667	0.06803	T	.	.	.	.	.	.	.	.	-2.145	0.03782	T	.	.	0.076	0.05845	B	.	.	1.235378	0.16305	12.45	0.98340308539117038	0.40438	0.00442	0.02154	N	ALL	0.048786	0.08360	N	-0.470683958180821	0.23045	1.234779	-0.479797326298758	0.22711	1.234909	0.999999998969833	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.44	2.49	0.29274	-0.323000	0.08039	0.024000	0.13633	0.472000	0.21952	0.000000	0.06391	0.000000	0.08366	0.952000	0.50033	0.0:0.2539:0.7461:0.0	8.495	0.32284	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	0	0	0	0	0.02381	630.98	36	chr11	61429820	.	G	C	630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.047;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.513;SOR=0.711	GT:AD:DP:GQ:PL	0/1:35,29:64:99:645,0,840	20	0	1	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.948	P	0.588	P	0.000	D	1.000	D	1.5	L	1.82	T	-1.071	T	0.080	T	0.919	3.976	20.4	4.41	1.764	6.186	13.945	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11271.74	121	chr11	61740531	.	T	C	11271.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.350e+00;DP=2360;ExcessHet=54.0936;FS=275.616;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.98;ReadPosRankSum=0.649;SOR=13.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,28:99:99:.:.:284,0,1311	0	0	21	0
chr11	62522304	62522304	T	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A12113G:p.K4038R	.	.	428	1081	13	0	0	13	0.00597701	.	.	2816709	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.033	B	0.04	B	0.001	D	1.000	N	2.6	M	3.45	T	-1.088	T	0.025	T	0.106	0.254	5.373	0.513	-0.184	2.622	8.597	0.098	0.0105667742358	0.0004	0.00139776	0.0017	0.0002	0.0017	0	0	0.0006	0.0022	0.0088	0.0015459	239	154602	rs141451542	0.0011	0.0011	0.0008	0.0013	0.0078	0.0010	0.0010	0.0073	0.0071	0.0002	0.0010	0	2.519e-05	1.872e-05	0.0052	0.0007	0.0012	0.0078	0.0005	0.0006	0.0005	0.0006	0.0073	0.0005	0.0004	0.0054	0.0048	9.689e-05	0	0.0006	0	0	0	0.0034	0.0005	0.0010	0.0073	0.056	0.38185	T	0.009	0.66756	D	0.033	0.20350	B	0.04	0.23831	B	0.000710	0.42254	D	0.155857	1	0.81001	D	2.255	0.64187	M	3.45	0.05311	T	-1.33	0.33197	N	0.204	0.22614	-1.0879	0.05890	T	0.025	0.10509	T	10	0.0066671073	0.00151	T	0.010567	0.27259	T	0.098	0.28162	.	.	0.0666544352282	0.05500	0.04017054820257291	0.03963	0.0251046110797	0.02556	0.26959425211	0.06088	T	0.232998	0.59969	T	-0.605529	0.00135	T	-0.637872	0.09824	T	0.0232876416859672	0.01057	T	0.729427	0.34485	T	0.047471814	0.08121	0.059443366	0.11157	0.047471814	0.08120	0.059443366	0.11156	-8.186	0.62330	D	.	.	0.119	0.24430	B	.	.	1.442932	0.18626	13.84	0.91174288749082821	0.20429	0.79151	0.39168	D	AEFBI	.	.	.	-1.04539440273977	0.07678	0.3575052	-1.1079812973771	0.07547	0.3675084	0.13573514906609	0.17178	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.39	0.513	0.16200	1.278000	0.32784	.	.	-0.353000	0.05553	0.007000	0.17678	0.000000	0.08366	0.006000	0.07323	0.0:0.2389:0.0:0.7611	8.597	0.32885	227	0.91186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2657.98	46	chr11	62522304	.	T	C	2657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.107e+00;DP=1434;ExcessHet=0.0000;FS=5.430;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=0.810;QD=8.83;ReadPosRankSum=0.192;SOR=0.458	GT:AD:DP:GQ:PL	0/1:183,118:301:99:2672,0,4964	20	0	1	0
chr11	62789988	62789988	G	A	exonic	TMEM179B	.	nonsynonymous SNV	TMEM179B:NM_001363601:exon4:c.G436A:p.D146N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.974	D	0.000	D	1.000	D	1.87	L	.	.	-0.487	T	0.309	T	0.092	4.503	24.2	4.45	1.235	0.939	11.233	0.092	0.0079040878907	.	.	1.649e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs768116893	1.847e-05	1.847e-05	1.77e-05	1.925e-05	2.338e-05	1.265e-05	1.084e-05	1.627e-05	1.382e-05	0	0	0	0	1.872e-05	0	2.338e-05	0	0	1.314e-05	1.313e-05	1.285e-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	0.047	0.40319	D	0.0	0.92824	D	0.999	0.77913	D	0.974	0.73157	D	0.000360	0.45440	D	0.224693	0.975816	0.81001	D	2.255	0.64187	M	.	.	.	-2.17	0.49018	N	0.095	0.07535	-0.4870	0.69115	T	0.309	0.67976	T	9	0.21178055	0.37617	T	0.007904	0.20955	T	0.092	0.26621	0.169	0.07419	0.269558022972	0.26553	0.3209501666749614	0.32008	0.0173837147037	0.01686	0.369395583868	0.20745	T	0.088559	0.38184	T	-0.205361	0.20036	T	-0.469118	0.25611	T	0.79795628786087	0.46215	D	0.714229	0.32652	T	0.11839952	0.27897	0.10298984	0.24700	0.11839952	0.27897	0.10298984	0.24699	-3.992	0.23683	T	.	.	0.145	0.32054	B	.	.	3.294952	0.45205	22.1	0.99912930384592635	0.98167	0.50935	0.28778	D	AEFDBHCI	0.355257	0.44705	N	0.359676879906344	0.59252	4.103152	0.303299799086285	0.55733	3.73617	0.999999974028561	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.38	4.45	0.53365	1.235000	0.32274	.	.	0.676000	0.76740	0.672000	0.28366	0.001000	0.17328	0.997000	0.79791	0.0:0.0:0.8168:0.1832	11.233	0.48153	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1627.98	35	chr11	62789988	.	G	A	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.640e+00;DP=861;ExcessHet=0.0000;FS=4.093;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=-8.170e-01;SOR=0.411	GT:AD:DP:GQ:PL	0/1:65,72:137:99:1642,0,1681	20	0	1	0
chr11	63304197	63304197	C	A	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon8:c.C1375A:p.L459I,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.997	D	0.934	D	0.000	U	0.593	N	2.885	M	-0.87	T	-0.265	T	0.320	T	0.292	1.096	9.473	3.05	1.747	3.783	9.858	0.187	0.00938774180779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	8.995e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.995e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.007	0.69154	D	0.997	0.70673	D	0.934	0.66904	D	0.000202	0.47681	U	0.086330	1	0.31007	N	3.06	0.86941	M	-0.87	0.74583	T	-1.67	0.39887	N	0.493	0.52651	-0.2649	0.75953	T	0.320	0.68882	T	10	0.8408878	0.83245	D	0.009388	0.24623	T	0.387	0.70358	0.745	0.87654	0.224531998449	0.22054	0.25533786640901246	0.25447	0.105735292603	0.11956	0.523734271526	0.42152	T	0.100075	0.40551	T	-0.0432903	0.45458	T	-0.29996	0.44728	T	0.886102676391602	0.53649	D	0.691131	0.30052	T	0.35061187	0.57115	0.2399684	0.49360	0.35061187	0.57115	0.2399684	0.49359	-5.794	0.44522	T	.	.	0.163	0.35910	B	.	.	2.330114	0.29851	18.25	0.79390030302325765	0.12720	0.53716	0.29439	D	AEFI	0.361238	0.45092	N	-0.168923267255855	0.34433	1.965275	-0.274315710401345	0.28948	1.617985	7.21841035634535E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.05	3.05	0.34272	2.027000	0.40699	1.551000	0.27293	-0.273000	0.06669	0.466000	0.26691	0.865000	0.27529	0.001000	0.02609	0.0:1.0:0.0:0.0	9.858	0.40267	794	0.45591	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	0.02381	1405.98	35	chr11	63304197	.	C	A	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-01;DP=831;ExcessHet=0.0000;FS=4.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=0.221;SOR=0.409	GT:AD:DP:GQ:PL	0/1:77,61:138:99:1420,0,1981	20	0	1	0
chr11	66294475	66294475	G	A	exonic	TMEM151A	.	nonsynonymous SNV	TMEM151A:NM_153266:exon2:c.G229A:p.A77T,	.	.	422	1075	24	1	0	26	0.0119485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.201	B	0.021	B	0.002	N	0.989	D	0.69	N	.	.	-1.089	T	0.060	T	0.197	-0.799	0.678	2.83	0.600	6.114	9.795	0.094	0.0159965288774	0.0012	0.000399361	0.0017	0.0001	0.0022	0	0.0004	0.0025	0.0029	0.0006	0.001313	203	154602	rs202127682	0.0014	0.0014	0.0013	0.0015	0.0085	0.0013	0.0013	0.0066	0.0060	0.0002	0.0019	0.0069	0	7.755e-05	0.0085	0.0014	0.0020	0.0005	0.0012	0.0012	0.0014	0.0010	0.0015	0.0010	0.0010	0.0013	0.0012	0.0002	0	0.0014	0.0078	0	0.0002	0.0137	0.0015	0.0047	0.0006	0.599	0.05652	T	0.484	0.11760	T	0.201	0.29693	B	0.021	0.19346	B	0.001876	0.37789	N	0.164918	0.988732	0.40818	D	0.895	0.22405	L	.	.	.	0.7	0.02163	N	0.158	0.16447	-1.0893	0.05650	T	0.060	0.25200	T	9	0.006064296	0.00136	T	0.015997	0.37036	T	0.094	0.27141	.	.	0.043077524339	0.03247	0.5628537279553625	0.56212	.	.	0.697946429253	0.66848	T	0.002676	0.02065	T	-0.466581	0.00893	T	-0.449155	0.27790	T	0.00303895006801984	0.00032	T	0.533947	0.17813	T	0.02264007	0.00941	0.055863645	0.09879	0.02264007	0.00941	0.055863645	0.09878	-5.773	0.44338	T	.	.	0.083	0.09143	B	.	.	2.899794	0.38433	20.7	0.81313325403504977	0.13624	0.98346	0.81852	D	AEFDGBI	0.555136	0.56570	D	-0.594696526936147	0.19104	0.997296	-0.51024337533845	0.21875	1.185445	0.999983762213022	0.51787	0.700653	0.57754	0	0.59043	0.45803	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	4.69	2.83	0.32150	3.955000	0.56422	9.198000	0.79167	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.141000	0.19983	0.1709:0.0:0.8291:0.0	9.795	0.39898	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1045.98	33	chr11	66294475	.	G	A	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.44;ReadPosRankSum=0.940;SOR=0.630	GT:AD:DP:GQ:PL	0/1:77,47:124:99:1060,0,1752	20	0	1	0
chr11	66744819	66744819	-	GGCGGCGGCGGC	exonic	C11orf80	.	nonframeshift insertion	C11orf80:NM_024650:exon1:c.77_78insGGCGGCGGCGGC:p.A34_G35insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0	0.0263	0	.	0.0018	0	0.0009	0.0001682	26	154602	rs567536854	0.0073	0.0075	0.0073	0.0073	0.0076	0.0072	0.0071	0.0075	0.0074	0.0029	0.0051	0.0060	0.0063	0.0104	0.0035	0.0076	0.0060	0.0026	0.0074	0.0075	0.0078	0.0071	0.0102	0.0071	0.0069	0.0088	0.0086	0.0037	0.0022	0.0072	0.0079	0.0102	0.0097	0	0.0094	0.0117	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	25402.44	33	chr11	66744819	.	G	GGGC,GGGCGGC,GGGCGGCGGCGGC	25402.44	.	AC=18,3,1;AF=0.429,0.071,0.024;AN=42;BaseQRankSum=-1.780e-01;DP=1238;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=18,3,1;MLEAF=0.429,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.88;ReadPosRankSum=-4.000e-02;SOR=0.747	GT:AD:DP:GQ:PL	0/1:26,21,0,0:47:99:770,0,1007,849,1071,1919,849,1071,1919,1919	5	4	8	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.006	B	0.000	D	1.000	D	0.6	N	-1.49	T	-0.718	T	0.281	T	0.218	1.574	11.22	5.54	2.603	6.822	12.661	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	1346.63	65	chr11	66863811	.	C	T	1346.63	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.038e+00;DP=2406;ExcessHet=9.6308;FS=147.397;InbreedingCoeff=-0.4216;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.76;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,18:106:21:0|1:66863808_C_T:21,0,2409:66863808	8	0	12	1
chr11	68312749	68312749	-	GCT	exonic	LRP5	.	nonframeshift insertion	LRP5:NM_002335:exon1:c.35_36insGCT:p.L20_A21insL,	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	.	26	179	10	6	5	27	0.0578947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	951.96	12	chr11	68312746	.	CGCT	CGCTGCT,C	951.96	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-8.330e-01;DP=282;ExcessHet=1.1607;FS=1.068;InbreedingCoeff=-0.1413;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=18.67;ReadPosRankSum=0.100;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,7,0:11:99:0|1:68312746_C_CGCT:239,0,126,251,147,398:68312746	16	0	4	0
chr11	74034038	74034038	G	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon31:c.C6122T:p.A2041V,	.	.	428	1046	45	3	0	51	0.0237984	.	.	1636264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.38	T	.	.	.	.	0.303	N	1.000	N	.	.	2.89	T	-0.956	T	0.014	T	0.062	0.739	7.921	0.757	0.107	0.702	7.148	0.022	.	.	0.00419329	0.0103	0.0029	0.0105	0	0.0012	0.0118	0.0155	0.0121	0.0024903	385	154602	rs145765035	0.0102	0.0097	0.0100	0.0105	0.0207	0.0101	0.0100	0.0177	0.0165	0.0013	0.0088	0.0141	2.798e-05	0.0021	0.0207	0.0107	0.0105	0.0144	0.0072	0.0072	0.0069	0.0076	0.0149	0.0069	0.0067	0.0122	0.0111	0.0019	0	0.0105	0.0118	0.0006	0.0020	0.0170	0.0103	0.0104	0.0149	0.357	0.12032	T	1.0	0.01155	T	.	.	.	.	.	.	0.303068	0.14564	N	0.568389	1	0.08975	N	0.69	0.16971	N	2.89	0.10196	T	-0.68	0.19509	N	0.049	0.02088	-0.9562	0.39879	T	0.014	0.05513	T	7	0.0032682419	0.00056	T	.	.	.	0.022	0.04323	.	.	0.190952846119	0.18690	0.09636815681837105	0.09568	.	.	.	.	.	0.014624	0.12415	T	-0.686165	0.00044	T	-0.746728	0.03615	T	0.00242903817196853	0.00025	T	0.384762	0.09420	T	0.014301993	0.00088	0.027103482	0.00840	0.018582454	0.00379	0.027103482	0.00840	-3.909	0.22438	T	0.4769490741205062	0.55632	0.086	0.10449	B	.	.	0.334210	0.07081	3.651	0.96379676144853632	0.29614	0.16803	0.19556	N	AEFBI	0.042617	0.06635	N	-0.505629189530834	0.21898	1.165457	-0.619008337508464	0.19005	1.017794	0.725674567777487	0.22984	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	0.757	0.17574	0.457000	0.21588	-0.302000	0.10107	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.381000	0.26357	0.2722:0.1111:0.6167:0.0	7.148	0.24772	325	0.86759	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	5198.11	38	chr11	74034038	.	G	A	5198.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.201e+00;DP=1060;ExcessHet=0.1072;FS=1.217;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-4.800e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:101,85:186:99:2304,0,2799	19	0	2	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|1:27,12:39:68:0|1:74497428_T_C:68,0,645:74497428	19	0	2	0
chr11	82931910	82931910	G	A	exonic	DDIAS	.	nonsynonymous SNV	DDIAS:NM_001363481:exon5:c.G572A:p.R191K	.	.	434	1066	18	4	0	26	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	B	0.01	B	0.082	N	1.000	N	1.59	L	2.49	T	-1.008	T	0.024	T	0.109	0.505	6.736	-1.55	-0.501	0.116	5.350	0.021	.	0.0019	0.00439297	0.0031	0.0002	0.0010	0	0.0002	0.0020	0.0022	0.0139	0.0028654	443	154602	rs143776868	0.0023	0.0023	0.0019	0.0027	0.0143	0.0022	0.0022	0.0136	0.0133	0.0002	0.0014	0.0010	5.038e-05	0.0010	0.0029	0.0016	0.0024	0.0143	0.0017	0.0017	0.0014	0.0020	0.0139	0.0015	0.0014	0.0112	0.0103	0.0002	0	0.0017	0.0014	0.0002	0.0008	0.0136	0.0019	0.0014	0.0139	0.291	0.14945	T	0.296	0.20615	T	0.051	0.22415	B	0.01	0.14941	B	0.081662	0.20852	N	0.521773	1	0.19072	N	.	.	.	2.49	0.14531	T	-0.91	0.24460	N	0.075	0.04913	-1.0082	0.27479	T	0.024	0.10148	T	9	0.0038969219	0.00074	T	.	.	.	0.021	0.04004	.	.	0.0762999501168	0.06990	0.09629855801019349	0.09561	0.0389555431681	0.04147	.	.	.	0.063198	0.32114	T	-0.630402	0.00095	T	-0.684781	0.06696	T	0.00185487795829065	0.00019	T	0.341266	0.07400	T	0.03574267	0.04264	0.045065105	0.05982	0.03574267	0.04264	0.045065105	0.05981	-2.621	0.06664	T	.	.	0.098	0.18580	B	.;.	.;.	0.781434	0.11518	8.115	0.79226924549518085	0.12647	0.08489	0.14411	N	AEFBI	0.077336	0.15579	N	-0.857207152831639	0.11873	0.5754471	-0.903660520719352	0.12007	0.6151954	0.128260463694081	0.17036	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.15	-1.55	0.08105	0.132000	0.15716	0.646000	0.20366	0.676000	0.76740	0.029000	0.20367	0.839000	0.27283	0.989000	0.64315	0.3495:0.0:0.5265:0.124	5.350	0.15334	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2710.11	42	chr11	82931910	.	G	A	2710.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.57;DP=934;ExcessHet=0.1072;FS=1.504;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=-2.410e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:65,63:128:99:1693,0,1630	19	0	2	0
chr11	94618061	94618061	G	C	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon17:c.G2122C:p.V708L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.924	P	0.649	P	0.001	D	0.906	D	1.1	L	1.33	T	-1.000	T	0.090	T	0.504	2.394	13.96	4.98	1.502	4.230	10.392	0.204	0.0106759789857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.222	0.35840	T	0.924	0.51285	P	0.649	0.52426	P	0.000584	0.43095	D	0.099013	0.906029	0.36289	D	1.565	0.39561	L	1.33	0.35031	T	-1.68	0.46337	N	0.5	0.53269	-0.9999	0.29945	T	0.090	0.34436	T	10	0.60332495	0.67035	D	0.010676	0.27493	T	0.204	0.49076	0.676	0.81398	0.550418665841	0.54699	0.6398381622521458	0.63918	0.501449785389	0.48529	0.506306290627	0.39706	T	0.083303	0.37024	T	-0.0843602	0.39003	T	-0.358954	0.38173	T	0.838701367378235	0.49222	D	0.919808	0.78939	D	0.10559078	0.24966	0.147185	0.34841	0.10559078	0.24965	0.147185	0.34840	-5.331	0.40249	T	.	.	0.240	0.52459	B	.;.	.;.	2.332110	0.29874	18.26	0.99387829687996976	0.62202	0.97874	0.77779	D	AEFI	0.667277	0.63546	D	0.172925259269668	0.49901	3.185565	0.207008071808128	0.50237	3.217776	0.397544557011528	0.20101	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.89	4.98	0.65679	4.761000	0.61939	5.425000	0.48576	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.1517:0.0:0.8483:0.0	10.392	0.43358	793	0.45818	Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.15	351.81	55	chr11	94618061	.	G	C	351.81	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-1.574e+00;DP=1213;ExcessHet=1.7912;FS=147.073;InbreedingCoeff=-0.2177;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=0.407;SOR=10.626	GT:AD:DP:GQ:PL	0/1:32,18:56:99:124,0,396	14	0	6	1
chr11	96092217	96092219	TGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1812_1814del:p.Q621del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	82727.93	103	chr11	96092210	.	TTGCTGCTGC	T,TTGCTGC	82727.93	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-1.300e-01;DP=3240;ExcessHet=0.3300;FS=2.351;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.99;MQRankSum=0.00;QD=26.30;ReadPosRankSum=0.083;SOR=1.120	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,96,0:99:99:.:.:3939,291,0,3958,294,4070	0	17	3	0
chr11	96384356	96384356	C	T	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon4:c.G392A:p.S131N	.	.	488	991	37	6	0	49	0.024126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.002	B	0.005	B	0.513	N	1.000	N	1.445	L	1.81	T	-1.009	T	0.043	T	0.068	-0.245	2.822	-1.45	-0.064	-1.395	0.874	0.018	.	0.0022	0.00499201	0.0059	0	0.0034	0.0002	0.0003	0.0034	0.0133	0.0263	0.0051293	793	154602	rs143022124	0.0020	0.0020	0.0013	0.0026	0.0179	0.0019	0.0019	0.0172	0.0169	0.0003	0.0013	0.0023	2.521e-05	0.0001	0.0106	0.0009	0.0022	0.0179	0.0029	0.0029	0.0023	0.0036	0.0301	0.0027	0.0026	0.0261	0.0246	0.0004	0	0.0028	0.0023	0	9.432e-05	0.0136	0.0033	0.0024	0.0301	1.0	0.00964	T	0.501	0.11153	T	0.002	0.09854	B	0.005	0.11217	B	0.512704	0.05156	N	1.233760	1	0.08975	N	0.805	0.20218	L	1.81	0.25182	T	-0.26	0.11185	N	0.042	0.01498	-1.0088	0.27292	T	0.043	0.18701	T	10	0.0033774972	0.00059	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.03132535768265218	0.03081	0.0574924983243	0.06368	0.307645320892	0.11552	T	0.001217	0.00709	T	-0.661212	0.00062	T	-0.727489	0.04443	T	0.00389319789664587	0.00041	T	0.332367	0.08817	T	0.18073986	0.39209	0.06620944	0.13531	0.18073986	0.39209	0.06620944	0.13530	-6.996	0.55445	T	.	.	0.078	0.20896	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.559908	0.09286	6.066	0.88297889401585861	0.17867	0.06405	0.12408	N	AEFDGBHCI	0.037299	0.05108	N	-1.04098532032772	0.07766	0.3618497	-1.11817198183985	0.07352	0.3573358	0.999549943018494	0.40300	0.722319	0.85440	0	0.724815	0.89359	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	4.48	-1.45	0.08365	-0.764000	0.04841	-0.229000	0.10694	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2623:0.3623:0.1287:0.2467	0.874	0.01142	.	.	Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;.;Domain of unknown function DUF4196	.	.	.	.	.	Likely benign	0	0	0	0	0	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	4390.11	34	chr11	96384356	.	C	T	4390.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.90;DP=1130;ExcessHet=0.1072;FS=4.407;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=2.60;SOR=0.636	GT:AD:DP:GQ:PL	0/1:131,100:231:99:2661,0,2713	19	0	2	0
chr11	102795503	102795503	C	T	exonic	MMP1	.	nonsynonymous SNV	MMP1:NM_001145938:exon5:c.G532A:p.G178S	COPD, rate of decline of lung function in	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.014	B	0.011	N	1.000	N	-0.055	N	2.01	T	-1.001	T	0.023	T	0.278	-0.508	1.675	5.65	2.824	1.265	11.428	0.100	0.00617780001164	.	.	4.127e-05	0	0	0.0006	0	0	0	0	3.23e-05	5	154602	rs777202958	1.095e-05	1.094e-05	1.225e-05	9.626e-06	0.0002	6.48e-06	5.24e-06	9.929e-05	7.225e-05	0	0	0	0.0002	0	0	5.396e-06	1.656e-05	1.159e-05	2.627e-05	2.625e-05	3.854e-05	1.343e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.014	0.16862	B	0.011405	0.29543	N	0.288499	1	0.08975	N	-0.9	0.01342	N	2.01	0.21291	T	0.37	0.03639	N	0.088	0.06587	-1.0013	0.29545	T	0.023	0.09787	T	10	0.030106634	0.01137	T	0.006178	0.16200	T	0.100	0.28662	0.347	0.34274	0.370789594751	0.36692	0.45473484382669177	0.45391	0.0100870195922	0.00923	0.324572503567	0.14113	T	0.051984	0.29033	T	-0.425523	0.01578	T	-0.548687	0.17451	T	0.0559524454871642	0.06516	T	0.636336	0.25008	T	0.26766774	0.49839	0.2089193	0.45214	0.26766774	0.49839	0.2089193	0.45214	-2.802	0.08202	T	.	.	0.111	0.21466	B	.	.	1.412496	0.18282	13.65	0.74774682133338832	0.10822	0.08458	0.14384	N	AEFBCI	0.121146	0.23566	N	-0.632778677611511	0.17965	0.9289655	-0.445517605270007	0.23677	1.292415	0.990384175554114	0.32135	0.660085	0.49399	0	0.573888	0.26702	0	0.573888	0.23631	0	0.651492	0.60203	0	.	.	5.65	5.65	0.86881	2.224000	0.42587	1.799000	0.28866	0.599000	0.40250	0.011000	0.18532	0.061000	0.22037	0.838000	0.39538	0.0:0.8607:0.0:0.1393	11.428	0.49266	771	0.49057	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	882.98	43	chr11	102795503	.	C	T	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.276;DP=914;ExcessHet=0.0000;FS=4.389;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-6.710e-01;SOR=0.631	GT:AD:DP:GQ:PL	0/1:41,37:78:99:897,0,946	20	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.003	B	0.000	D	0.991	D	1.5	L	.	.	-0.882	T	0.177	T	0.291	2.535	14.44	5.88	2.782	0.899	9.319	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:106,14,35:155:99:.:.:826,601,3770,0,3232,4307	4	0	6	5
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.789	P	0.266	B	0.000	D	0.997	D	1.5	L	.	.	-0.909	T	0.128	T	0.715	2.775	15.24	5.88	2.782	0.899	9.319	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:106,14,35:155:99:.:.:826,601,3770,0,3232,4307	4	0	6	5
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.002	B	0.001	D	0.672	N	0	N	.	.	-1.080	T	0.039	T	0.091	0.671	7.594	3.03	0.836	0.969	1.144	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4333	6124.11	112	chr11	106010660	.	C	G	6124.11	.	AC=13;AF=0.433;AN=30;BaseQRankSum=-2.788e+00;DP=3216;ExcessHet=11.8493;FS=276.657;InbreedingCoeff=-0.6434;MLEAC=16;MLEAF=0.533;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=2.98;SOR=12.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,51:157:99:0|1:106010660_C_G:1010,0,3122:106010660	2	0	13	6
chr11	106010663	106010663	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.004	B	0.000	D	0.902	D	0	N	.	.	-0.984	T	0.104	T	0.262	2.319	13.71	5.88	2.782	2.233	15.669	0.047	0.00279040284091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.902327	0.36202	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9843	0.33998	T	0.104	0.38218	T	9	0.1143381	0.21509	T	0.00279	0.05810	T	0.047	0.12962	0.294	0.25720	0.256793551483	0.25290	0.12417175146048018	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923724	0.37684	T	-0.370463	0.36834	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.089872	0.41597	21.4	0.98105666193469465	0.38310	0.97626	0.75993	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	2573.14	115	chr11	106010663	.	C	T,G	2573.14	.	AC=2,3;AF=0.071,0.107;AN=28;BaseQRankSum=-4.138e+00;DP=2832;ExcessHet=1.1607;FS=230.122;InbreedingCoeff=-0.2534;MLEAC=3,4;MLEAF=0.107,0.143;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=2.64;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,35,0:163:99:0|1:106010660_C_G:344,0,4588,724,4687,5411:106010660	9	0	2	7
chr11	106010663	106010663	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255C:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.004	B	0.000	D	0.906	D	0	N	.	.	-0.988	T	0.104	T	0.262	2.196	13.30	5.88	2.782	2.233	15.669	0.043	0.0028274219259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.905747	0.36282	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9883	0.33027	T	0.104	0.38218	T	9	0.11421201	0.21482	T	0.002827	0.05927	T	0.043	0.11576	0.294	0.25720	0.256793551483	0.25290	0.12417172391841125	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923564	0.37687	T	-0.37044	0.36836	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.013320	0.40302	21.1	0.9790952007803857	0.36801	0.97322	0.74021	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	2573.14	115	chr11	106010663	.	C	T,G	2573.14	.	AC=2,3;AF=0.071,0.107;AN=28;BaseQRankSum=-4.138e+00;DP=2832;ExcessHet=1.1607;FS=230.122;InbreedingCoeff=-0.2534;MLEAC=3,4;MLEAF=0.107,0.143;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=2.64;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,35,0:163:99:0|1:106010660_C_G:344,0,4588,724,4687,5411:106010660	9	0	2	7
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.007	B	0.034	B	0.000	D	0.974	D	0	N	.	.	-0.972	T	0.117	T	0.382	2.309	13.68	5.88	2.244	5.797	16.275	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2222	2371.93	115	chr11	106010664	.	A	G	2371.93	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.480e+00;DP=2731;ExcessHet=0.6776;FS=248.284;InbreedingCoeff=-0.3238;MLEAC=7;MLEAF=0.389;MQ=60.00;MQRankSum=0.00;QD=3.64;ReadPosRankSum=3.40;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,35:161:99:0|1:106010660_C_G:350,0,4539:106010660	5	0	4	12
chr11	108512523	108512523	G	A	exonic	EXPH5	.	nonsynonymous SNV	EXPH5:NM_001144765:exon3:c.C2420T:p.P807L	Epidermolysis bullosa, nonspecific, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1459966	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.102	B	0.032	B	0.198	N	1.000	N	1.935	M	4.28	T	-1.025	T	0.017	T	0.17	3.277	17.00	4.01	1.555	1.131	6.433	0.059	0.0161908338979	.	.	.	.	.	.	.	.	.	.	.	.	.	rs900955478	6.844e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.573e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.029	0.58613	D	.	.	.	.	.	.	0.197782	0.16679	N	0.584255	0.999999	0.08975	N	.	.	.	4.28	0.04151	T	-4.62	0.90023	D	0.083	0.05929	-1.0248	0.22148	T	0.017	0.06855	T	10	0.15851843	0.29807	T	0.016191	0.37323	T	0.059	0.16972	0.318	0.29581	0.293147016451	0.28931	0.1413023537204226	0.14053	0.201659407777	0.22570	0.248876973987	0.03650	T	0.132741	0.46300	T	-0.239122	0.15461	T	-0.581258	0.14432	T	0.720004200935364	0.41699	D	0.816718	0.47282	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.30971	B	.;.;.;.	.;.;.;.	1.436046	0.18546	13.80	0.99464872857475095	0.65996	0.09954	0.15590	N	AEFBI	0.091130	0.18461	N	-0.513019140841017	0.21659	1.151038	-0.534903245862264	0.21208	1.146182	0.996500484506433	0.34791	0.554377	0.28877	0	0.588066	0.40923	0	0.54472	0.12158	0	0.542086	0.14980	0	.	.	6.02	4.01	0.45821	1.165000	0.31432	1.669000	0.27944	0.676000	0.76740	0.002000	0.15269	0.043000	0.21642	0.017000	0.10941	0.092:0.0:0.6567:0.2513	6.433	0.21011	819	0.41190	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2139.98	35	chr11	108512523	.	G	A	2139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=1290;ExcessHet=0.0000;FS=5.240;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-8.110e-01;SOR=0.942	GT:AD:DP:GQ:PL	0/1:104,81:185:99:2154,0,2812	20	0	1	0
chr11	112214814	112214814	G	A	exonic	BCO2	.	nonsynonymous SNV	BCO2:NM_001256398:exon8:c.G1166A:p.G389D	.	.	430	1068	23	1	0	25	0.0115687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	1.000	D	2.835	M	-3.54	D	1.035	D	0.913	D	0.886	4.583	24.9	4.9	1.455	9.234	14.293	0.759	0.293365816146	0.0021	0.000599042	0.0026	0.0002	0.0008	0	0	0.0028	0.0022	0.0074	0.0024062	372	154602	rs139612323	0.0024	0.0024	0.0021	0.0026	0.0095	0.0023	0.0023	0.0075	0.0068	0.0002	0.0013	0.0076	0	0.0002	0.0095	0.0021	0.0028	0.0072	0.0015	0.0015	0.0014	0.0015	0.0052	0.0013	0.0013	0.0036	0.0031	0.0002	0	0.0009	0.0063	0	0	0	0.0022	0.0038	0.0052	0.002	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.973	0.72923	D	0.000000	0.84330	D	0.045838	1	0.81001	D	2.58	0.75369	M	-3.54	0.94799	D	-4.47	0.77881	D	0.95	0.95841	1.035	0.97804	D	0.913	0.97123	D	10	0.0858323	0.14530	T	0.293366	0.90639	D	0.910	0.97587	.	.	0.938140714169	0.93749	0.919297372627089	0.91905	0.423288817443	0.42795	0.51526337862	0.40960	T	0.650942	0.89407	D	0.156289	0.69857	D	0.455168	0.93712	D	0.051481616603211	0.05758	T	0.962304	0.90829	D	0.80129206	0.83988	0.8391546	0.90783	0.80129206	0.83989	0.8391546	0.90783	-9.861	0.76242	D	.	.	0.685	0.76179	P	.;.;.;.;.;.	.;.;.;.;.;.	4.897691	0.80468	27.3	0.99820268161618808	0.90326	0.98760	0.86500	D	AEFBI	0.941797	0.94555	D	0.854464077099419	0.89360	9.940139	0.798718644719191	0.89703	10.08612	0.999996331904234	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.81	4.9	0.63643	9.450000	0.96770	11.728000	0.94942	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0716:0.0:0.9284:0.0	14.293	0.65845	746	0.52331	.;.;.;.;.;.	.	.	.	.	.	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	1176.98	33	chr11	112214814	.	G	A	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-1.114e+00;SOR=0.652	GT:AD:DP:GQ:PL	0/1:55,49:104:99:1191,0,1271	20	0	1	0
chr11	114530269	114530269	G	C	exonic	NXPE1	.	nonsynonymous SNV	NXPE1:NM_152315:exon3:c.C313G:p.P105A	.	.	431	1028	61	2	0	65	0.0306459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	0.783	N	3.155	M	1.92	T	-0.380	T	0.419	T	0.476	4.143	21.4	4.29	2.324	5.115	15.055	0.300	.	0.0036	0.00559105	0.0069	0.0011	0.0036	0.0002	0.0003	0.0060	0.0165	0.0222	0.0063065	975	154602	rs45609739	0.0056	0.0056	0.0050	0.0063	0.0227	0.0055	0.0055	0.0207	0.0204	0.0010	0.0036	0.0022	5.038e-05	0.0006	0.0227	0.0050	0.0068	0.0215	0.0042	0.0042	0.0039	0.0045	0.0189	0.0039	0.0038	0.0157	0.0146	0.0010	0.0340	0.0051	0.0020	0	0.0005	0.0204	0.0053	0.0085	0.0189	0.011	0.57480	D	0.037	0.56640	D	1.0	0.90584	D	0.998	0.88582	D	0.000032	0.55875	D	0.000000	1	0.08975	N	3.145	0.88303	M	1.81	0.64818	T	-5.65	0.93697	D	0.587	0.63035	-0.3800	0.72651	T	0.419	0.76503	T	10	0.005137056	0.00112	T	.	.	.	0.300	0.62068	.	.	0.389439708392	0.38560	0.4717352409557836	0.47092	0.16594407476	0.18725	0.33301743865	0.15389	T	0.236518	0.60401	T	-0.316631	0.07178	T	-0.210675	0.53631	T	0.0314134618907065	0.02212	T	0.90111	0.65631	D	0.39157385	0.60144	0.577302	0.75507	0.39157385	0.60144	0.577302	0.75508	-9.493	0.70815	D	.	.	0.423	0.61041	A	.;.;.;.	.;.;.;.	4.447330	0.69097	25.3	0.99347243344324987	0.60412	0.86495	0.45787	D	AEFBI	0.408249	0.48000	N	0.630376840640656	0.75105	6.247449	0.475806938901561	0.66391	4.945904	0.0134415062130334	0.12466	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	4.29	0.50359	3.630000	0.54014	3.198000	0.36737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.055	0.71574	889	0.27310	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4193.68	34	chr11	114530269	.	G	C	4193.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.37;DP=1039;ExcessHet=0.3300;FS=3.866;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=0.300;SOR=0.877	GT:AD:DP:GQ:PL	0/1:71,54:125:99:1149,0,1822	18	0	3	0
chr11	117918602	117918604	TGG	0	exonic	TMPRSS13	.	.	.	.	.	455	112	9	0	946	955	0.0386266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2892.83	147	chr11	117918602	.	TGG	T,*	2892.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4072;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=60.00;QD=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,126:126:99:.:.:5291,5291,5291,383,383,0	1	0	0	0
chr11	117918605	117918618	AGATGCCTGGGCTG	0	exonic	TMPRSS13	.	.	.	.	.	453	114	9	0	946	955	0.0379747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2883.83	147	chr11	117918605	.	AGATGCCTGGGCTG	A,*	2883.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4040;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=59.94;QD=1.03;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,126:126:99:.:.:5291,5291,5291,383,383,0	1	0	0	0
chr11	125038597	125038597	T	C	exonic	CCDC15	.	nonsynonymous SNV	CCDC15:NM_025004:exon14:c.T2578C:p.Y860H,	.	.	442	1076	4	0	0	4	0.00185529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.009	B	0.011	B	.	.	1.000	N	1.445	L	1.41	T	-1.006	T	0.066	T	0.188	1.796	11.96	-1.64	-0.503	-0.378	4.881	0.017	0.00509735738192	.	0.000199681	0.0002	0	0	0	0	0	0	0.0011	5.82e-05	9	154602	rs577531347	3.983e-05	4.036e-05	2.112e-05	5.895e-05	0.0004	3.146e-05	2.827e-05	0.0003	0.0003	0	9.235e-05	0	0	0	0.0004	1.103e-05	8.595e-05	0.0004	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.023	0.48186	D	0.032	0.53426	D	0.009	0.15093	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	1.41	0.34253	T	-2.05	0.54382	N	0.101	0.09349	-1.0058	0.28216	T	0.066	0.27225	T	9	0.009868711	0.00221	T	0.005097	0.12939	T	0.017	0.02790	0.226	0.15109	0.0482279557977	0.04254	0.13945202244579466	0.13868	0.0189071063277	0.01841	0.296992242336	0.09954	T	0.037496	0.24497	T	-0.459417	0.00991	T	-0.559305	0.16442	T	0.019249812088643	0.00631	T	0.352865	0.20563	T	0.4605496	0.64705	0.28634945	0.54643	0.4605496	0.64706	0.28634945	0.54642	-3.663	0.18773	T	.	.	0.375	0.59319	A	.;.	.;.	1.664173	0.21222	15.10	0.9818263857019579	0.38958	0.02750	0.07434	N	AEFBI	0.049368	0.08522	N	-0.870495372090006	0.11549	0.5579341	-0.905028316472498	0.11975	0.6133392	0.0219314727171202	0.13390	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.0	-1.64	0.07874	-0.267000	0.08648	.	.	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.1294:0.2722:0.0:0.5983	4.881	0.13037	857	0.34089	.;.	.	.	.	.	.	Uncertain significance	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	1162.98	33	chr11	125038597	.	T	C	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.751;DP=849;ExcessHet=0.0000;FS=1.663;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=1.20;SOR=0.502	GT:AD:DP:GQ:PL	0/1:45,50:95:99:1177,0,984	20	0	1	0
chr12	309870	309870	T	C	exonic	KDM5A	.	nonsynonymous SNV	KDM5A:NM_001042603:exon22:c.A3311G:p.D1104G,	.	.	5	1503	14	0	0	14	0.00463576	.	.	753324	not_provided|KDM5A-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.003	B	0.000	D	1.000	D	0.9	L	-1.73	D	-0.378	T	0.444	T	0.222	2.641	14.79	5.92	2.255	3.979	16.353	0.334	.	0.0002	0.00259585	0.0017	0	0.0011	0	0	0.0003	0.0011	0.0107	0.0014489	224	154602	rs201344078	0.0009	0.0009	0.0006	0.0012	0.0112	0.0009	0.0008	0.0106	0.0103	2.99e-05	0.0008	3.827e-05	0	0	0.0012	0.0002	0.0010	0.0112	0.0006	0.0006	0.0004	0.0007	0.0118	0.0005	0.0004	0.0094	0.0085	7.215e-05	0	0.0010	0	0	0	0	0.0002	0	0.0118	0.192	0.20988	T	0.447	0.13066	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.047953	0.999981	0.54805	D	0.255	0.09829	N	-1.92	0.84773	D	0.02	0.06739	N	0.339	0.38027	-0.3782	0.72708	T	0.444	0.78124	T	10	0.007944077	0.00180	T	.	.	.	0.334	0.65620	.	.	0.206203607746	0.20212	0.5532631801951152	0.55252	0.239666914259	0.26511	0.492004603148	0.37716	T	0.140279	0.47474	T	-0.351601	0.04627	T	-0.268432	0.47978	T	0.0242367315862672	0.01174	T	0.840516	0.51562	T	0.20029108	0.41999	0.18359748	0.41359	0.20029108	0.41999	0.18359748	0.41358	-4.002	0.23834	T	.	.	0.096	0.15475	B	.	.	3.159092	0.42797	21.6	0.98882147109117824	0.47841	0.91016	0.52696	D	AEFBI	0.349626	0.44335	N	-0.028904609364582	0.40549	2.410021	0.182922526094968	0.48911	3.100887	0.839289507017523	0.24836	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.92	5.92	0.95557	3.970000	0.56530	7.880000	0.72453	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	16.353	0.83053	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	531.98	33	chr12	309870	.	T	C	531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.060e-01;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=1.84;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,22:40:99:0|1:309870_T_C:546,0,419:309870	20	0	1	0
chr12	885872	885872	C	G	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon17:c.C4327G:p.P1443A	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	.	0	1515	6	1	0	8	0.00263331	.	.	578505	Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Pseudohypoaldosteronism_type_2C	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.082	B	0.039	B	0.000	N	1.000	D	1.095	L	-1.57	D	0.003	D	0.608	D	0.563	2.217	13.37	4.98	1.612	3.202	17.388	0.452	0.124524089538	.	.	5.789e-05	0	8.637e-05	0	0	0	0	0.0004	4.53e-05	7	154602	rs771546256	4.449e-05	4.446e-05	2.451e-05	6.468e-05	0.0006	3.577e-05	3.259e-05	0.0005	0.0005	0	0	0	0	0	0	6.299e-06	3.313e-05	0.0006	3.285e-05	3.94e-05	2.569e-05	4.035e-05	0.0004	1.261e-05	7.98e-06	7.287e-05	3.028e-05	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0.0004	0.074	0.35537	T	1.0	0.28669	T	0.046	0.21875	B	0.027	0.21085	B	0.000115	0.50451	N	0.087473	0.997926	0.44325	D	1.79	0.46772	L	-2.8	0.91076	D	-4.57	0.80256	D	0.239	0.26957	0.003	0.82311	D	0.608	0.86111	D	10	0.122582406	0.23257	T	0.124524	0.80589	D	0.452	0.75211	0.311	0.28451	0.40642006208	0.40259	0.3803628023096669	0.37951	0.448429279266	0.44671	0.400211215019	0.25098	T	0.25618	0.87278	T	-0.134034	0.30846	T	-0.066144	0.65900	T	0.131805352417146	0.15548	T	0.878412	0.59357	D	0.19272722	0.40953	0.21013972	0.45388	0.19272722	0.40953	0.21013972	0.45387	-3.593	0.18263	T	.	.	0.067	0.07412	B	.;.;.;.;.	.;.;.;.;.	2.605014	0.33824	19.45	0.98038702051356297	0.37774	0.97730	0.76719	D	AEFDBI	0.356941	0.44814	N	-0.0776401916282595	0.38374	2.246598	0.0976206796174211	0.44429	2.724841	0.989302221242801	0.31782	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.98	0.65679	3.056000	0.49616	4.239000	0.42696	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.8752:0.1248:0.0	17.388	0.87313	551	0.72115	.;.;.;.;.	.	.	.	.	.	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	1919.98	45	chr12	885872	.	C	G	1919.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=1062;ExcessHet=0.0000;FS=1.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=0.889;SOR=0.824	GT:AD:DP:GQ:PL	0/1:70,75:145:99:1934,0,1698	20	0	1	0
chr12	4548716	4548716	G	A	exonic	RAD51AP1	.	nonsynonymous SNV	RAD51AP1:NM_006479:exon6:c.G436A:p.V146I	.	.	424	1059	38	1	0	40	0.0185357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.002	B	0.005	B	0.309	N	1.000	N	1.245	L	1.49	T	-1.053	T	0.034	T	0.099	-0.013	3.949	-5.89	-1.521	-2.007	1.902	0.011	.	0.0035	0.00359425	0.0054	0.0011	0.0024	0	0.0014	0.0053	0.0066	0.0154	0.0051228	792	154602	rs114193736	0.0063	0.0063	0.0060	0.0065	0.0151	0.0062	0.0061	0.0144	0.0141	0.0010	0.0024	0.0006	2.519e-05	0.0010	0.0057	0.0066	0.0055	0.0151	0.0034	0.0034	0.0036	0.0032	0.0118	0.0032	0.0031	0.0093	0.0085	0.0010	0.0011	0.0033	0.0003	0	0.0007	0.0136	0.0052	0.0028	0.0118	0.623	0.08458	T	0.297	0.21745	T	0.002	0.09854	B	0.002	0.06944	B	0.309231	0.04004	N	1.490830	1	0.08975	N	1.32	0.33002	L	1.49	0.31470	T	-0.24	0.11366	N	0.074	0.06587	-1.0533	0.13493	T	0.034	0.14639	T	10	0.0030179322	0.00049	T	.	.	.	0.011	0.01250	.	.	0.171388866994	0.16791	0.012136688093202803	0.01172	0.0797471840611	0.08979	0.218657553196	0.01233	T	0.001945	0.01356	T	-0.654249	0.00068	T	-0.699586	0.05848	T	0.000695740826581034	0.00006	T	0.529047	0.17505	T	0.017670278	0.00293	0.016657619	0.00019	0.017670278	0.00293	0.016657619	0.00019	-3.565	0.17742	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	-1.394296	0.00364	0.007	0.63327562369559387	0.07195	0.01624	0.05244	N	AEFBI	0.054611	0.09945	N	-1.41984862399728	0.02464	0.1088679	-1.52658162101311	0.02141	0.09803702	0.90136843482508	0.26099	0.732398	0.92422	0	0.724815	0.89359	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	4.97	-5.89	0.02093	-1.175000	0.03211	-1.842000	0.04627	-0.678000	0.04252	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.265:0.1713:0.4169:0.1468	1.902	0.03072	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	220.98	33	chr12	4548716	.	G	A	220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.475;DP=729;ExcessHet=0.0000;FS=2.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.70;ReadPosRankSum=-6.840e-01;SOR=1.363	GT:AD:DP:GQ:PL	0/1:35,12:47:99:235,0,893	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	0/1:55,18:88:99:.:.:143,0,909	3	0	18	0
chr12	6667913	6667918	TGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1187del:p.Q399_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,5,60,0,0:65:6:2429,2238,2404,194,0,6,2444,2338,200,2523,2444,2338,200,2523,2523	0	0	0	0
chr12	6667916	6667918	TGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1184del:p.Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,5,60,0,0:65:6:2429,2238,2404,194,0,6,2444,2338,200,2523,2444,2338,200,2523,2523	0	0	0	0
chr12	6667918	6667918	-	TGC	exonic	ZNF384	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1181_1182insGCA:p.Q400_P401insQ	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,5,60,0,0:65:6:2429,2238,2404,194,0,6,2444,2338,200,2523,2444,2338,200,2523,2523	0	0	0	0
chr12	6667904	6667918	TGCTGCTGCTGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1196del:p.Q396_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169898408	0.0003	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0004	0.0003	3.944e-05	0.0002	0	0.0004	0.0003	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0001	0.0006	0.0004	0.0002	0	0	0	0	0	0.0035	0.0003	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,5,60,0,0:65:6:2429,2238,2404,194,0,6,2444,2338,200,2523,2444,2338,200,2523,2523	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	0/6:1,0,0,0,0,0,32:50:32:.:.:1262,1264,1290,1264,1290,1290,1264,1290,1290,1290,1264,1290,1290,1290,1290,1264,1290,1290,1290,1290,1290,0,32,32,32,32,32,309	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	0/6:1,0,0,0,0,0,32:50:32:.:.:1262,1264,1290,1264,1290,1290,1264,1290,1290,1290,1264,1290,1290,1290,1290,1264,1290,1290,1290,1290,1290,0,32,32,32,32,32,309	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	0/6:1,0,0,0,0,0,32:50:32:.:.:1262,1264,1290,1264,1290,1290,1264,1290,1290,1290,1264,1290,1290,1290,1290,1264,1290,1290,1290,1290,1290,0,32,32,32,32,32,309	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	0/6:1,0,0,0,0,0,32:50:32:.:.:1262,1264,1290,1264,1290,1290,1264,1290,1290,1290,1264,1290,1290,1290,1290,1264,1290,1290,1290,1290,1290,0,32,32,32,32,32,309	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	0/6:1,0,0,0,0,0,32:50:32:.:.:1262,1264,1290,1264,1290,1290,1264,1290,1290,1290,1264,1290,1290,1290,1290,1264,1290,1290,1290,1290,1290,0,32,32,32,32,32,309	1	0	2	0
chr12	7829905	7829905	C	T	exonic	SLC2A14	.	nonsynonymous SNV	SLC2A14:NM_001286236:exon4:c.G116A:p.R39H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.962	D	0.000	D	1.000	D	4.73	H	-2.63	D	1.016	D	0.911	D	0.653	3.183	16.65	3.41	1.430	6.848	12.309	0.794	0.250104568511	.	.	1.648e-05	0	0	0.0001	0	0	0	6.056e-05	1.29e-05	2	154602	rs770629394	1.779e-05	1.779e-05	1.361e-05	2.2e-05	0.0005	1.237e-05	1.051e-05	0.0001	7.541e-05	0	0	0	0	0	0.0005	7.194e-06	9.934e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.991	0.68779	D	0.908	0.70672	P	0.000000	0.84330	D	0.000000	1	0.81001	D	4.19	0.97772	H	-2.63	0.90083	D	-4.35	0.79482	D	0.956	0.97750	1.016	0.97462	D	0.911	0.97046	D	10	0.90871376	0.90236	D	0.250105	0.89078	D	0.794	0.93227	0.701	0.83777	0.692426550812	0.68978	0.8320408758455037	0.83163	0.884575161911	0.69923	0.666960537434	0.62404	T	0.778155	0.94119	D	0.183383	0.72354	D	0.122495	0.78399	D	0.998473465442657	0.94253	D	0.90141	0.65732	D	0.6279099	0.74187	0.51814383	0.72160	0.6279099	0.74188	0.51814383	0.72161	-11.803	0.84152	D	.	.	0.885	0.83497	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.563426	0.71934	25.7	0.99915286177496332	0.98379	0.92717	0.56374	D	AEFDBHCI	0.814618	0.73680	D	0.729619493222715	0.81575	7.554283	0.509598528790888	0.68635	5.247278	0.824163118982355	0.24576	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.664235	0.64389	0	.	.	3.41	3.41	0.38145	6.824000	0.75078	2.678000	0.33996	0.304000	0.19002	1.000000	0.71638	0.993000	0.31925	0.498000	0.28972	0.0:1.0:0.0:0.0	12.309	0.54242	929	0.16858	.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2035.98	34	chr12	7829905	.	C	T	2035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=868;ExcessHet=0.0000;FS=6.483;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-3.410e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/1:93,80:173:99:2050,0,2263	20	0	1	0
chr12	10631294	10631294	G	A	exonic	STYK1	.	nonsynonymous SNV	STYK1:NM_018423:exon5:c.C202T:p.P68S,	.	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.144	B	0.014	B	0.009	N	1.000	N	2.075	M	0.6	T	-0.678	T	0.322	T	0.179	1.486	10.92	1.44	0.056	0.215	7.526	0.069	0.0134565714201	0.0003	0.000798722	0.0008	0	0.0002	0	0	0.0005	0	0.0036	0.0006598	102	154602	rs140174760	0.0004	0.0004	0.0003	0.0004	0.0029	0.0004	0.0003	0.0026	0.0025	5.974e-05	0.0001	0.0038	0	0	0.0029	0.0001	0.0008	0.0029	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0018	0.0014	0	0	6.533e-05	0.0046	0	0	0	0.0002	0.0005	0.0029	0.149	0.51853	T	0.302	0.92824	T	0.144	0.27697	B	0.014	0.16862	B	0.009183	0.30475	N	0.326057	1	0.08975	N	2.19	0.61577	M	-1.14	0.77843	T	-1.48	0.78302	N	0.168	0.17828	-0.6785	0.61442	T	0.322	0.69099	T	10	0.005180508	0.00113	T	0.013457	0.32880	T	0.069	0.20116	.	.	0.50970329007	0.50609	0.5637568186244317	0.56302	0.183786363742	0.20674	0.283225119114	0.07946	T	0.028895	0.20826	T	-0.412965	0.01900	T	-0.37121	0.36748	T	0.0203411637573905	0.00734	T	0.627137	0.24302	T	0.02052102	0.00614	0.03000872	0.01405	0.02052102	0.00614	0.03000872	0.01405	-3.392	0.14949	T	.	.	0.071	0.05060	B	.;.;.	.;.;.	1.020940	0.14004	10.57	0.68626865613198018	0.08716	0.01913	0.05852	N	AEFBI	0.039501	0.05745	N	-0.960258096141173	0.09464	0.4480145	-1.01897663576184	0.09368	0.4656734	0.991047916226018	0.32354	0.706548	0.73137	0	0.59043	0.45803	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.43	1.44	0.21647	0.247000	0.17953	1.318000	0.25583	-0.641000	0.04447	0.114000	0.23067	0.769000	0.26685	0.004000	0.06068	0.3702:0.0:0.6298:0.0	7.526	0.26822	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	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	1172.98	34	chr12	10631294	.	G	A	1172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.590e-01;DP=825;ExcessHet=0.0000;FS=3.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=1.66;SOR=0.390	GT:AD:DP:GQ:PL	0/1:31,48:79:99:1187,0,762	20	0	1	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	0/1:77,24:101:99:472,0,2074	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	1/1:0,22,0:22:66:652,66,0,652,66,652	4	3	11	0
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	47416.68	201	chr12	11353413	.	G	A,*	47416.68	.	AC=22,3;AF=0.611,0.083;AN=36;BaseQRankSum=1.23;DP=4494;ExcessHet=0.6840;FS=7.239;InbreedingCoeff=0.1429;MLEAC=25,3;MLEAF=0.694,0.083;MQ=49.32;MQRankSum=0.484;QD=21.62;ReadPosRankSum=0.236;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,64,0:67:91:.:.:1948,91,0,1957,191,2057	2	8	6	3
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8214	21751.81	201	chr12	11353469	.	A	G,*	21751.81	.	AC=20,3;AF=0.714,0.107;AN=28;BaseQRankSum=1.20;DP=4073;ExcessHet=0.2102;FS=5.613;InbreedingCoeff=0.1459;MLEAC=26,4;MLEAF=0.929,0.143;MQ=51.75;MQRankSum=-5.705e+00;QD=18.93;ReadPosRankSum=-1.910e+00;SOR=1.241	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,27,0:27:81:.:.:1008,81,0,1008,81,1008	0	8	4	7
chr12	11393752	11393752	C	T	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.G326A:p.R109Q	.	.	453	1033	18	0	18	36	0.00863724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.092	B	0.002	B	.	.	1.000	P	-1.8	N	3.71	T	-0.976	T	0.003	T	0.093	-1.118	0.127	-2.46	-2.070	-1.294	2.776	0.019	.	.	.	0.4222	0.2431	0.4094	0.3162	0.4681	0.4602	0.4311	0.4099	0.001191	31	26028	rs76832300	0.0113	0.0066	0.0104	0.0122	0.0191	0.0110	0.0109	0.0142	0.0125	0.0010	0.0068	0.0437	0.0017	0.0087	0.0191	0.0124	0.0117	0.0094	0.0087	0.0079	0.0086	0.0089	0.0136	0.0081	0.0079	0.0125	0.0120	0.0022	0.0107	0.0066	0.0235	0.0024	0.0078	0.0116	0.0136	0.0022	0.0117	.	.	.	0.637	0.07037	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	3.71	0.04046	T	-0.04	0.07590	N	0.039	0.01274	-0.9762	0.35860	T	0.003	0.00994	T	8	0.0032245219	0.00055	T	.	.	.	0.019	0.03383	.	.	.	.	0.039606789593714	0.03906	0.075177927071	0.08431	.	.	.	.	.	.	-0.741699	0.00020	T	-0.813109	0.01597	T	0.00107057250001736	0.00010	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05274	B	.	.	-0.084743	0.03731	0.770	0.4266095456056942	0.03160	0.00029	0.00276	N	AEFBI	0.015596	0.00305	N	-2.03367369516568	0.00179	0.00766595	-2.0562362833855	0.00232	0.01022055	5.2484378870243E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.23	-2.46	0.06089	-2.259000	0.01260	-0.374000	0.09587	-0.815000	0.03024	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.2053:0.2954:0.0:0.4994	2.776	0.05019	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.09091	710.75	39	chr12	11393752	.	C	T,*	710.75	.	AC=1,1;AF=0.045,0.045;AN=22;BaseQRankSum=-4.698e+00;DP=7366;ExcessHet=0.1072;FS=2.715;InbreedingCoeff=-0.2000;MLEAC=2,2;MLEAF=0.091,0.091;MQ=55.98;MQRankSum=-1.338e+01;QD=1.03;ReadPosRankSum=3.01;SOR=0.904	GT:AD:DP:GQ:PL	0/1:253,70,0:323:99:720,0,6093,1472,6301,7773	9	0	1	10
chr12	11393752	11393752	C	0	exonic	PRB1;PRB2	.	.	.	.	.	453	1033	18	0	18	36	0.00863724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	710.75	39	chr12	11393752	.	C	T,*	710.75	.	AC=1,1;AF=0.045,0.045;AN=22;BaseQRankSum=-4.698e+00;DP=7366;ExcessHet=0.1072;FS=2.715;InbreedingCoeff=-0.2000;MLEAC=2,2;MLEAF=0.091,0.091;MQ=55.98;MQRankSum=-1.338e+01;QD=1.03;ReadPosRankSum=3.01;SOR=0.904	GT:AD:DP:GQ:PL	0/1:253,70,0:323:99:720,0,6093,1472,6301,7773	9	0	1	10
chr12	31103648	31103648	G	C	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_004399:exon25:c.G2458C:p.V820L	Warsaw breakage syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.037	B	0.033	B	0.158	N	0.830	N	0.83	L	-2.89	D	-0.409	T	0.586	D	0.228	0.784	8.133	-1.26	-0.386	0.321	7.277	0.132	0.02636387208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.098	0.39040	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	0.999996	0.28777	N	.	.	.	-0.73	0.73100	T	1.38	0.00857	N	0.138	0.13626	-0.4093	0.71733	T	0.586	0.85131	D	9	0.100384384	0.18277	T	0.026364	0.49282	D	0.132	0.35948	0.465	0.53566	0.753307581479	0.75107	0.31133377068302653	0.31046	.	.	0.537653803825	0.44114	T	0.058439	0.30843	T	-0.088462	0.38329	T	-0.364846	0.37489	T	0.0656475663705456	0.08027	T	0.263874	0.04274	T	0.6402606	0.74844	0.35115352	0.60714	0.6402606	0.74846	0.35115352	0.60713	-2.805	0.08230	T	.	.	0.088	0.11606	B	.	.	0.748213	0.11177	7.816	0.93238544008024293	0.22923	0.19150	0.20547	N	AEFDBHCI	0.362619	0.45181	N	-1.06452926507695	0.07306	0.3389654	-1.14122500139138	0.06927	0.3350968	0.992377425300562	0.32817	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.563494	0.21769	0	.	.	3.14	-1.26	0.08892	0.379000	0.20315	-3.820000	0.02515	0.467000	0.21759	0.013000	0.18845	0.000000	0.08366	0.253000	0.23340	0.7447:0.0:0.2553:0.0	7.277	0.25466	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	0.02381	1511.98	72	chr12	31103648	.	G	C	1511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.450e-01;DP=1551;ExcessHet=0.0000;FS=1.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.33;MQRankSum=-6.830e-01;QD=13.26;ReadPosRankSum=-5.160e-01;SOR=0.900	GT:AD:DP:GQ:PL	0/1:55,59:114:99:1526,0,1435	20	0	1	0
chr12	32755622	32755622	C	G	exonic	YARS2	.	nonsynonymous SNV	YARS2:NM_001040436:exon1:c.G253C:p.D85H,	Myopathy, lactic acidosis, and sideroblastic anemia 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.973	D	0.000	D	1.000	D	2.985	M	0.74	T	-0.422	T	0.301	T	0.678	3.844	19.53	2.72	1.198	5.299	9.128	0.313	0.120665591044	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1167016632	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.72224	D	1.0	0.90584	D	0.973	0.72923	D	0.000003	0.62929	D	0.101229	1	0.81001	D	3.69	0.94526	H	0.74	0.50459	T	-4.99	0.82221	D	0.801	0.79696	-0.4221	0.71323	T	0.301	0.67186	T	10	0.8488797	0.84060	D	0.120666	0.80126	D	0.313	0.63482	0.632	0.76810	0.531727546574	0.52820	0.6799314687224141	0.67932	1.36873852786	0.84485	0.753081560135	0.74901	T	0.523042	0.83356	D	0.0370084	0.56652	T	-0.0877624	0.64330	T	0.984026432037354	0.75478	D	0.968203	0.88468	D	0.8620016	0.88238	0.79993373	0.88266	0.8620016	0.88240	0.79993373	0.88266	-9.623	0.71622	D	0.6614480898340025	0.73500	0.436	0.61500	A	.	.	5.070472	0.84568	28.3	0.99331596388332644	0.59816	0.48630	0.28250	N	ALL	0.677355	0.64208	D	0.627615201166171	0.74926	6.216742	0.507018567338595	0.68460	5.223258	0.999999999999996	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.64	2.72	0.31179	5.354000	0.65806	4.621000	0.44076	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.145:0.7772:0.0:0.0778	9.128	0.35989	764	0.49969	Aminoacyl-tRNA synthetase, class I, conserved site	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2707.98	35	chr12	32755622	.	C	G	2707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.437e+00;DP=930;ExcessHet=0.0000;FS=4.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=1.76;SOR=0.896	GT:AD:DP:GQ:PL	0/1:111,108:219:99:2722,0,2974	20	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.374	B	0.326	B	0.000	D	1.000	D	0.86	L	-0.89	T	-0.602	T	0.322	T	0.754	2.842	15.47	5.39	2.533	4.151	19.172	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,11,4:51:66:.:.:127,0,1048,66,1036,1134	2	0	14	4
chr12	39764776	39764776	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528T:p.L510F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.722	P	0.519	P	0.000	D	1.000	D	1.98	M	-0.99	T	-0.129	T	0.446	T	0.785	3.086	16.31	5.39	2.533	4.151	19.172	0.489	0.0629985215375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.227	0.25362	T	0.722	0.42387	P	0.519	0.48163	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.99	0.75911	T	-1.75	0.41428	N	0.71	0.71321	-0.1290	0.79425	T	0.446	0.78221	T	10	0.69258845	0.71947	D	0.062999	0.68831	D	0.489	0.77656	0.527	0.63263	0.644369250691	0.64143	0.8989563015606465	0.89867	0.486330154237	0.47495	0.655019402504	0.60698	T	0.25826	0.62940	T	0.186182	0.72612	D	0.0296617	0.72257	D	0.980596303939819	0.73444	D	0.89551	0.63622	D	0.35904205	0.57762	0.30843896	0.56862	0.35904205	0.57763	0.30843896	0.56861	-11.185	0.80663	D	.	.	0.171	0.37633	B	.	.	4.277361	0.65129	24.8	0.99608861495682466	0.74694	0.91321	0.53298	D	AEFCI	0.719950	0.67067	D	0.487429499125516	0.66355	4.939395	0.535340465806759	0.70385	5.49735	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,11,4:51:66:.:.:127,0,1048,66,1036,1134	2	0	14	4
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.014	B	0.05	B	0.000	D	1.000	D	0.75	N	-1.01	T	-0.745	T	0.273	T	0.19	2.602	14.66	4.49	2.533	5.695	14.373	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	835.24	35	chr12	39764778	.	G	A	835.24	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-2.930e+00;DP=1096;ExcessHet=1.7912;FS=200.882;InbreedingCoeff=-0.2409;MLEAC=5;MLEAF=0.156;MQ=60.00;MQRankSum=0.00;QD=2.54;ReadPosRankSum=0.399;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,15:51:99:.:.:172,0,1017	10	0	6	5
chr12	40483015	40483015	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	481509.55	1118	chr12	40483015	.	A	G,*	481509.55	.	AC=32,2;AF=0.762,0.048;AN=42;BaseQRankSum=-3.082e+00;DP=19979;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=32,2;MLEAF=0.762,0.048;MQ=59.68;MQRankSum=0.00;QD=26.76;ReadPosRankSum=0.264;SOR=0.666	GT:AD:DP:GQ:PL	1/1:0,843,0:843:99:27323,2530,0,27323,2530,27323	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	1/1:1,763,0:764:99:25638,2266,0,25641,2291,25666	4	9	7	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	0/2:696,0,83:779:99:.:.:1198,3303,32288,0,28985,28736	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	0/2:696,0,83:779:99:.:.:1198,3303,32288,0,28985,28736	15	0	3	2
chr12	40486500	40486500	C	A	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	0.09524	1717.24	813	chr12	40486500	.	C	A,*	1717.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.871;DP=21584;ExcessHet=0.6776;FS=10.912;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=56.54;MQRankSum=4.74;QD=0.36;ReadPosRankSum=-4.885e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:591,85,0:676:99:0|1:40486500_C_A:1731,0,24278,3510,24534,28044:40486500	17	0	1	0
chr12	40486500	40486500	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1717.24	813	chr12	40486500	.	C	A,*	1717.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.871;DP=21584;ExcessHet=0.6776;FS=10.912;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=56.54;MQRankSum=4.74;QD=0.36;ReadPosRankSum=-4.885e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:591,85,0:676:99:0|1:40486500_C_A:1731,0,24278,3510,24534,28044:40486500	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|2:605,0,85,0:690:99:0|1:40486500_C_A:1689,3510,28777,0,25268,25012,3510,28777,25268,28777:40486500	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|2:605,0,85,0:690:99:0|1:40486500_C_A:1689,3510,28777,0,25268,25012,3510,28777,25268,28777:40486500	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|1:606,85,0:691:99:0|1:40486500_C_A:1686,0,25031,3510,25286,28796:40486500	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|1:623,85,0:708:99:0|1:40486500_C_A:1635,0,25346,3510,25602,29112:40486500	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	0/2:838,0,33,0:871:99:.:.:3365,1353,36215,0,34793,34699,3797,36515,35130,38630	4	0	6	1
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:838,0,33,0:871:99:.:.:3365,1353,36215,0,34793,34699,3797,36515,35130,38630	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	0/2:823,0,28:851:99:.:.:3410,1139,34737,0,33588,33532	3	0	6	3
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	1|1:1,444,0,0:445:99:1|1:40488224_A_G:17727,1327,0,17729,1334,17736,17729,1334,17736,17736:40488224	3	6	5	3
chr12	40570509	40570509	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	N	.	.	.	.	-0.947	T	0.130	T	.	5.620	36	-0.511	-0.192	0.095	14.264	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs986819918	3.656e-06	7.952e-06	0	6.767e-06	3.236e-05	6.1e-07	2.3e-07	.	.	0	3.236e-05	0	0	0	0	0	3.331e-05	0	2.631e-05	2.628e-05	2.571e-05	2.693e-05	4.83e-05	8.15e-06	5.14e-06	8.01e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1770.98	35	chr12	40570509	.	C	T	1770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=-8.650e-01;SOR=0.745	GT:AD:DP:GQ:PL	0/1:62,67:129:99:1785,0,1529	20	0	1	0
chr12	40944070	40944070	C	T	exonic	CNTN1	.	nonsynonymous SNV	CNTN1:NM_175038:exon12:c.C1550T:p.A517V	.	.	.	.	.	.	.	.	.	.	.	1010426	Compton-North_congenital_myopathy	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540,Orphanet:210163	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.81	T	1.0	D	0.997	D	0.000	D	1.000	D	1.59	L	2.53	T	-1.110	T	0.072	T	0.744	2.275	13.56	4.72	2.625	7.114	18.248	0.208	0.0259973946858	.	.	8.268e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs779551448	8.212e-06	8.209e-06	9.532e-06	6.878e-06	0.0002	4.38e-06	3.46e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	6.297e-06	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.11550	T	0.478	0.25061	T	0.949	0.90584	P	0.821	0.86255	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.325	0.33218	L	2.53	0.14038	T	-0.89	0.24026	N	0.811	0.83066	-1.1097	0.03096	T	0.072	0.29291	T	10	0.7857443	0.78231	D	0.025997	0.48938	D	0.208	0.49714	0.569	0.69167	0.454055122543	0.45028	0.8454460965493286	0.84505	0.955170405442	0.72777	0.584843277931	0.50768	T	0.261581	0.63307	T	-0.0535707	0.43903	T	-0.217873	0.52942	T	0.940226197242737	0.61237	D	0.931907	0.86510	D	0.16107453	0.36092	0.16980386	0.39042	0.16107453	0.36091	0.16980386	0.39042	-4.496	0.50271	T	.	.	0.51	0.67450	A	.;.;.;.;.	.;.;.;.;.	4.250720	0.64526	24.7	0.99609206912088266	0.74694	0.98786	0.86836	D	AEFI	0.852039	0.76894	D	0.324070130722143	0.57386	3.905766	0.275154152814646	0.54091	3.575339	0.999990946839377	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.72	4.72	0.59248	7.182000	0.77229	7.653000	0.63809	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.829000	0.39076	0.0:1.0:0.0:0.0	18.248	0.89933	736	0.53558	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1064.98	34	chr12	40944070	.	C	T	1064.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=828;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.32;ReadPosRankSum=0.178;SOR=0.803	GT:AD:DP:GQ:PL	0/1:78,50:128:99:1079,0,1653	20	0	1	0
chr12	42460069	42460069	G	A	exonic	PRICKLE1	.	nonsynonymous SNV	PRICKLE1:NM_001144881:exon8:c.C2236T:p.P746S	Epilepsy, progressive myoclonic 1B, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	135472	Epilepsy,_progressive_myoclonic,_1B|not_specified|not_provided	MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.037	B	0.009	B	0.000	D	1.000	N	0.805	L	-1.99	D	-0.885	T	0.026	T	0.07	0.601	7.240	5.58	2.782	4.875	19.946	0.304	.	0.0016	0.0201677	0.0101	0.0004	0.0194	0.0864	0.0002	0.0021	0.0011	0.0070	0.0095018	1469	154602	rs3827522	0.0054	0.0054	0.0053	0.0055	0.0795	0.0053	0.0052	0.0772	0.0762	0.0004	0.0158	0.0021	0.0795	0.0003	0.0040	0.0025	0.0076	0.0071	0.0060	0.0060	0.0055	0.0065	0.0847	0.0057	0.0055	0.0781	0.0755	0.0007	0	0.0121	0.0017	0.0847	0.0007	0.0034	0.0027	0.0062	0.0108	0.018	0.50676	D	0.16	0.31427	T	0.037	0.20876	B	0.009	0.14300	B	0.000406	0.44736	D	0.225035	0.999826	0.20203	N	1.665	0.42610	L	-1.99	0.85320	D	-1.49	0.36385	N	0.104	0.14622	-0.8854	0.49324	T	0.026	0.11220	T	10	0.0017695427	0.00023	T	.	.	.	0.304	0.62510	.	.	.	.	0.3551184717963568	0.35425	0.394066426659	0.40570	0.341263651848	0.16627	T	0.145985	0.48338	T	-0.432641	0.01429	T	-0.31767	0.42829	T	0.0609070858450115	0.07310	T	0.746025	0.36642	T	0.08557991	0.19857	0.14977208	0.35349	0.07266875	0.16183	0.1339355	0.32104	-3.176	0.12190	T	0.19171987352439407	0.25166	0.077	0.06479	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.424381	0.47561	22.5	0.98131507539475249	0.38522	0.89993	0.50831	D	AEFBI	0.521986	0.54619	D	-0.177623512281458	0.34068	1.940114	-0.0573963437080761	0.37172	2.172883	0.999457632561927	0.39788	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.58	5.58	0.84361	7.547000	0.81094	5.769000	0.49731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.361000	0.25909	0.0:0.0:1.0:0.0	19.946	0.97182	503	0.75780	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1795.11	33	chr12	42460069	.	G	A	1795.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=825;ExcessHet=0.1072;FS=1.537;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.17;ReadPosRankSum=2.24;SOR=0.648	GT:AD:DP:GQ:PL	0/1:22,18:40:99:529,0,617	19	0	2	0
chr12	42469464	42469464	C	T	exonic	PRICKLE1	.	nonsynonymous SNV	PRICKLE1:NM_001144881:exon4:c.G370A:p.A124T	Epilepsy, progressive myoclonic 1B, Autosomal recessive	.	1	1491	29	1	0	31	0.0102887	.	.	135473	Epilepsy,_progressive_myoclonic,_1B|not_specified|Childhood_epilepsy_with_centrotemporal_spikes	MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308|MedGen:CN169374|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.21	T	0.002	B	0.006	B	0.000	D	1.000	D	2.15	M	0.05	T	-0.892	T	0.019	T	0.178	2.831	15.43	3.55	1.413	1.908	12.584	0.099	.	0.0017	0.0273562	0.0135	0.0006	0.0195	0.0924	0.0002	0.0021	0.0044	0.0281	0.0125548	1941	154602	rs79087668	0.0067	0.0067	0.0061	0.0073	0.0834	0.0066	0.0066	0.0811	0.0801	0.0005	0.0158	0.0021	0.0834	0.0003	0.0045	0.0025	0.0097	0.0265	0.0071	0.0071	0.0060	0.0082	0.0910	0.0067	0.0066	0.0843	0.0816	0.0007	0	0.0122	0.0017	0.0910	0.0007	0.0034	0.0027	0.0062	0.0373	0.184	0.21634	T	0.256	0.23298	T	0.002	0.09854	B	0.006	0.12133	B	0.000124	0.49741	D	0.207611	0.999915	0.51042	D	0.845	0.21182	L	0.05	0.76561	T	-1.21	0.33197	N	0.078	0.15046	-0.8924	0.48722	T	0.019	0.08033	T	10	0.001621902	0.00019	T	.	.	.	0.099	0.28413	.	.	.	.	0.3095601302993247	0.30869	0.339430259153	0.35891	0.450280964375	0.31982	T	0.118743	0.43978	T	-0.468024	0.00875	T	-0.358207	0.38261	T	0.00760317014155403	0.00088	T	0.819018	0.50309	T	0.08712119	0.20275	0.12031081	0.29035	0.08903565	0.20790	0.12031081	0.29034	-5.203	0.38972	T	0.06110281018219036	0.01722	0.073	0.04723	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.598206	0.33719	19.42	0.99004866399912961	0.50231	0.81330	0.40756	D	AEFDGBHCI	0.186650	0.31395	N	-0.107796757099699	0.37053	2.150237	0.00894855236807661	0.40128	2.390033	0.999999983472388	0.74766	0.706548	0.73137	0	0.218748	0.04544	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.41	3.55	0.39770	1.948000	0.39929	2.647000	0.33790	0.599000	0.40250	0.952000	0.33172	0.992000	0.31684	0.984000	0.60418	0.0:0.8578:0.0:0.1422	12.584	0.55761	502	0.75873	Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;.	.	.	.	.	rs79087668	Uncertain significance	0	0	0	0	0	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	1497.11	34	chr12	42469464	.	C	T	1497.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.756e+00;DP=843;ExcessHet=0.1072;FS=1.905;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.18;ReadPosRankSum=-1.470e+00;SOR=0.852	GT:AD:DP:GQ:PL	0/1:45,29:74:99:691,0,1251	19	0	2	0
chr12	45927363	45927363	T	G	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon11:c.A2338C:p.T780P,	.	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.475	P	0.047	B	0.022	N	1.000	N	1.15	L	2.18	T	-1.042	T	0.056	T	0.118	-0.963	0.319	-6.47	-0.488	-0.085	2.159	0.036	0.00268613874495	.	0.000599042	0.0004	9.623e-05	0.0003	0.0002	0	0.0005	0	0.0006	0.0003946	61	154602	rs137901313	0.0004	0.0004	0.0003	0.0004	0.0019	0.0004	0.0003	0.0011	0.0008	2.987e-05	0.0002	7.652e-05	7.557e-05	1.872e-05	0.0019	0.0004	0.0006	0.0006	0.0004	0.0004	0.0005	0.0002	0.0006	0.0003	0.0003	0.0005	0.0004	2.405e-05	0	0.0004	0.0003	0.0002	0	0.0034	0.0006	0	0.0006	0.29	0.14996	T	0.372	0.16376	T	0.475	0.36638	P	0.047	0.24832	B	0.022414	0.01572	N	2.117220	1	0.08975	N	1.39	0.34934	L	2.18	0.32722	T	-0.28	0.13035	N	0.063	0.08786	-1.0424	0.16592	T	0.056	0.23450	T	10	0.009508461	0.00214	T	0.002686	0.05492	T	0.036	0.09122	.	.	0.165150595986	0.16160	0.09782510472252012	0.09713	0.0601548666932	0.06689	0.299746394157	0.10363	T	0.011838	0.40268	T	-0.538987	0.00340	T	-0.632499	0.10226	T	0.00895828562709368	0.00112	T	0.314968	0.19272	T	0.054871935	0.10589	0.03679271	0.03197	0.054871935	0.10588	0.03679271	0.03196	-4.387	0.29571	T	.	.	0.101	0.22573	B	.;.;.	.;.;.	0.260980	0.06395	2.861	0.57891889694222987	0.05869	0.06290	0.12284	N	AEFGBI	0.079472	0.16051	N	-1.08163389495195	0.06982	0.322989	-1.2017298169754	0.05883	0.2815593	0.988280516447406	0.31463	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.57	-6.47	0.01731	-0.003000	0.12836	-0.151000	0.11419	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.2066:0.3385:0.304:0.1509	2.159	0.03587	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	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	2626.98	34	chr12	45927363	.	T	G	2626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=927;ExcessHet=0.0000;FS=5.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.18;ReadPosRankSum=2.02;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,69:137:99:0|1:45927361_G_T:2641,0,2605:45927361	20	0	1	0
chr12	48074492	48074492	T	C	exonic	SENP1	.	nonsynonymous SNV	SENP1:NM_001267594:exon8:c.A772G:p.I258V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.003	B	0.070	N	1.000	D	0.55	N	2.54	T	-0.976	T	0.017	T	0.037	0.110	4.594	1.01	0.077	0.020	4.834	0.035	0.00152037478945	.	.	1.657e-05	0	0	0.0001	0	0	0.0011	0	1.29e-05	2	154602	rs745761476	1.026e-05	1.026e-05	6.807e-06	1.375e-05	0.0003	6.16e-06	4.89e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	5.396e-06	3.313e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.07497	T	0.51	0.10821	T	0.001	0.09854	B	0.001	0.08700	B	0.070086	0.21562	N	0.440276	1	0.81001	D	1.935	0.51832	L	2.54	0.13916	T	0.09	0.06138	N	0.063	0.03502	-0.9755	0.36015	T	0.017	0.06902	T	10	0.035245	0.01764	T	0.00152	0.02369	T	0.035	0.08770	0.23	0.15705	0.21174354426	0.20776	0.1468507035056895	0.14607	.	.	0.370079100132	0.20844	T	0.054174	0.29650	T	-0.526233	0.00404	T	-0.757005	0.03221	T	0.026105194603126	0.01420	T	0.60094	0.22456	T	0.013277736	0.00054	0.023983514	0.00413	0.013277736	0.00054	0.023983514	0.00413	-2.554	0.06161	T	.	.	0.060	0.02670	B	.;.;.	.;.;.	0.881135	0.12544	9.072	0.58173577567797863	0.05933	0.56985	0.30258	D	AEDGBIJ	0.085622	0.17358	N	-0.731727795187249	0.15133	0.7600618	-0.572143019622009	0.20220	1.088429	0.00311413983052615	0.09935	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.84	1.01	0.19044	-0.073000	0.11428	0.466000	0.18665	-0.119000	0.14319	0.989000	0.36753	0.999000	0.35428	0.997000	0.79791	0.0:0.2479:0.1518:0.6004	4.834	0.12818	496	0.76301	.;.;.	.	.	.	.	.	Uncertain significance	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	1445.98	44	chr12	48074492	.	T	C	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.427e+00;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=1.61;SOR=0.773	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1460,0,1336	20	0	1	0
chr12	48088943	48088943	T	C	exonic	SENP1	.	nonsynonymous SNV	SENP1:NM_001267594:exon5:c.A238G:p.S80G	.	.	429	1056	37	0	0	37	0.0172173	.	.	702319	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.03	B	0.055	B	0.001	D	1.000	D	0.55	N	2.38	T	-1.090	T	0.024	T	0.136	2.862	15.53	5.31	2.148	4.671	14.545	0.048	.	0.0039	0.00299521	0.0092	0.0005	0.0027	0.0003	0.0343	0.0101	0.0171	0.0060	0.0054527	843	154602	rs112688170	0.0050	0.0050	0.0049	0.0051	0.0210	0.0049	0.0049	0.0179	0.0168	0.0007	0.0018	0.0345	2.572e-05	0.0284	0.0210	0.0035	0.0067	0.0045	0.0053	0.0053	0.0045	0.0062	0.0043	0.0050	0.0049	0.0039	0.0038	0.0005	0.0077	0.0024	0.0326	0.0002	0.0300	0.0170	0.0043	0.0028	0.0021	0.004	0.65419	D	0.202	0.27414	T	0.018	0.20002	B	0.025	0.25995	B	0.000851	0.41440	D	0.194749	1	0.81001	D	0.805	0.20218	L	2.38	0.15843	T	-0.97	0.56144	N	0.256	0.29313	-1.0899	0.05549	T	0.024	0.10419	T	10	0.0037702918	0.00070	T	.	.	.	0.048	0.13305	.	.	0.338449385132	0.33456	0.28745014231400146	0.28658	.	.	0.442630141973	0.30936	T	0.10795	0.42057	T	-0.554129	0.00275	T	-0.566132	0.15806	T	0.019706397154617	0.00672	T	0.780822	0.41560	T	0.121635914	0.28599	0.12576467	0.30298	0.121635914	0.28599	0.12576467	0.30297	-4.725	0.33705	T	.	.	0.085	0.17488	B	.;.;.;.	.;.;.;.	3.339620	0.46013	22.2	0.99198206286095336	0.55201	0.98662	0.85282	D	AEFBI	0.565628	0.57194	D	-0.0592072060781748	0.39192	2.307282	0.143442539337478	0.46794	2.919761	0.984952414377167	0.30802	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.666000	0.61248	5.086000	0.47311	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.545	0.67616	497	0.76227	.;.;.;.	.	.	.	.	rs112688170	Uncertain significance	0	0	0	0	0	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	395.98	34	chr12	48088943	.	T	C	395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.112;DP=742;ExcessHet=0.0000;FS=1.184;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.61;ReadPosRankSum=-1.910e-01;SOR=0.929	GT:AD:DP:GQ:PL	0/1:28,18:46:99:410,0,729	20	0	1	0
chr12	48203268	48203268	T	G	exonic	OR10AD1	.	nonsynonymous SNV	OR10AD1:NM_001004134:exon1:c.A25C:p.T9P,	.	.	431	1057	34	0	0	34	0.0158287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.534	P	0.143	B	0.041	N	1.000	N	2.17	M	4.4	T	-0.955	T	0.006	T	0.562	0.651	7.493	1.73	0.427	1.755	3.208	0.090	.	0.0038	0.00299521	0.0065	0.0004	0.0020	0.0001	0.0260	0.0072	0.0178	0.0054	0.0058408	903	154602	rs112948514	0.0073	0.0073	0.0073	0.0073	0.0154	0.0071	0.0071	0.0124	0.0113	0.0006	0.0018	0.0340	2.773e-05	0.0274	0.0154	0.0047	0.0082	0.0049	0.0052	0.0052	0.0044	0.0061	0.0043	0.0049	0.0048	0.0039	0.0037	0.0005	0.0077	0.0018	0.0323	0.0002	0.0292	0.0170	0.0043	0.0028	0.0031	0.004	0.65419	D	0.029	0.54541	D	0.534	0.37787	P	0.143	0.33763	B	0.041180	0.23978	N	0.207594	1	0.08975	N	1.685	0.43254	L	4.4	0.02215	T	-3.22	0.64939	D	0.395	0.43610	-0.9549	0.40114	T	0.006	0.01944	T	10	0.004396379	0.00089	T	.	.	.	0.090	0.26093	.	.	0.29132392195	0.28731	0.3578521323055992	0.35699	0.0986389603971	0.11146	0.284889936447	0.08183	T	0.018115	0.14658	T	-0.471763	0.00829	T	-0.447819	0.27938	T	0.0196901589367616	0.00671	T	0.506749	0.16047	T	0.28944045	0.51940	0.40771738	0.65109	0.28944045	0.51940	0.40771738	0.65109	-8.131	0.61959	D	.	.	0.137	0.29914	B	.	.	1.241742	0.16376	12.50	0.95192574500094318	0.26377	0.39853	0.26306	N	AEFBCI	0.339312	0.43650	N	-0.503047978824176	0.21981	1.170499	-0.618759201248743	0.19011	1.018176	0.0338251342059499	0.14124	0.497415	0.19182	0	0.514364	0.08380	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.36	1.73	0.23565	0.839000	0.27239	-0.234000	0.10651	0.645000	0.52629	0.003000	0.16062	0.000000	0.08366	0.009000	0.08673	0.1739:0.1855:0.0:0.6406	3.208	0.06275	736	0.53558	.	.	.	.	.	rs112948514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	951.98	37	chr12	48203268	.	T	G	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.895;DP=877;ExcessHet=0.0000;FS=3.339;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=0.462;SOR=1.140	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,27:78:99:0|1:48203268_T_G:966,0,1999:48203268	20	0	1	0
chr12	49490690	49490690	A	G	exonic	SPATS2	.	nonsynonymous SNV	SPATS2:NM_001293286:exon5:c.A223G:p.S75G	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.104	B	0.039	B	0.011	N	1.000	D	0.895	L	.	.	-0.947	T	0.101	T	0.167	3.310	17.13	5.24	1.974	4.668	11.547	0.034	0.00210480452853	0.0027	0.00179712	0.0036	0.0006	0.0010	0	0.0080	0.0055	0.0044	0	0.0037128	574	154602	rs142230440	0.0039	0.0039	0.0040	0.0038	0.0044	0.0038	0.0038	0.0043	0.0043	0.0007	0.0010	0.0015	2.52e-05	0.0082	0.0033	0.0044	0.0034	0.0001	0.0031	0.0031	0.0030	0.0032	0.0047	0.0029	0.0028	0.0043	0.0041	0.0008	0	0.0007	0.0012	0	0.0083	0.0102	0.0047	0.0043	0.0002	0.081	0.61437	T	0.008	0.69154	D	0.104	0.25941	B	0.039	0.23607	B	0.010698	0.29823	N	0.364000	0.993484	0.23703	N	2.075	0.57047	M	.	.	.	-2.39	0.52612	N	0.297	0.33578	-0.9468	0.41515	T	0.101	0.37417	T	9	0.008061707	0.00183	T	0.002105	0.03882	T	0.034	0.08419	.	.	0.0934897674506	0.08844	0.13054203920872406	0.12979	0.312050624539	0.33506	0.51364928484	0.40733	T	0.080878	0.36467	T	-0.412415	0.01916	T	-0.355787	0.38541	T	0.0228098507062631	0.01002	T	0.568443	0.20183	T	0.14220098	0.32735	0.12549326	0.30237	0.14220098	0.32735	0.12549326	0.30236	-7.307	0.56246	T	.	.	0.069	0.06069	B	.;.;.;.	.;.;.;.	2.906392	0.38538	20.8	0.99462541440358387	0.65892	0.81429	0.40834	D	AEFBI	0.170981	0.29792	N	-0.0108968494486665	0.41361	2.472638	0.167421080392501	0.48072	3.028208	0.999983341207761	0.51787	0.744818	0.98587	0	0.732433	0.95613	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.24	5.24	0.72863	4.785000	0.62110	5.375000	0.48439	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	11.547	0.49955	173	0.93306	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	350.98	33	chr12	49490690	.	A	G	350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.160e-01;DP=748;ExcessHet=0.0000;FS=4.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.77;ReadPosRankSum=-9.700e-02;SOR=1.164	GT:AD:DP:GQ:PL	0/1:24,16:40:99:365,0,639	20	0	1	0
chr12	50134563	50134563	C	A	exonic	CERS5	.	nonsynonymous SNV	CERS5:NM_001331070:exon9:c.G1012T:p.A338S	.	.	426	1093	3	0	0	3	0.00137049	.	.	2396078	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.949	P	0.54	P	0.000	D	1.000	D	1.805	L	2.82	T	-0.702	T	0.240	T	0.717	3.695	18.77	5.01	2.785	7.493	18.905	0.176	0.0119834152789	.	.	4.942e-05	0	0	0	0	4.495e-05	0	0.0002	3.88e-05	6	154602	rs776527448	4.994e-05	4.994e-05	3.539e-05	6.463e-05	0.0009	4.059e-05	3.734e-05	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	3.957e-05	9.934e-05	0.0002	3.283e-05	3.281e-05	2.569e-05	4.03e-05	0.0002	1.26e-05	7.98e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0.0034	0	0.0005	0.0002	0.296	0.14694	T	0.568	0.10750	T	0.125	0.26866	B	0.074	0.28220	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.29	0.65257	M	2.63	0.12884	T	-1.73	0.41046	N	0.638	0.65074	-0.7019	0.60347	T	0.240	0.60750	T	10	0.39509186	0.55169	T	0.011983	0.30135	T	0.176	0.44373	0.452	0.51448	0.443285836454	0.43952	0.6155400670588785	0.61486	0.365336773763	0.38131	0.571252584457	0.48855	T	0.118161	0.43877	T	-0.188081	0.22540	T	-0.21175	0.53528	T	0.256752192974091	0.23172	T	0.906409	0.67021	D	0.28846425	0.51849	0.25472623	0.51143	0.28846425	0.51849	0.25472623	0.51142	-6.197	0.48936	T	.	.	0.201	0.42549	B	.;.	.;.	4.192946	0.63207	24.6	0.99353555017754025	0.60697	0.99078	0.90902	D	AEFDGBI	0.923791	0.90081	D	0.511213802635742	0.67751	5.123727	0.569980475936847	0.72799	5.866948	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.794000	0.84430	7.611000	0.61914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	18.905	0.92430	229	0.91079	.;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	1152.98	33	chr12	50134563	.	C	A	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-2.930e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/1:61,46:107:99:1167,0,1463	20	0	1	0
chr12	51341283	51341283	T	G	exonic	CELA1	.	nonsynonymous SNV	CELA1:NM_001971:exon5:c.A424C:p.N142H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.97	D	0.000	D	1.000	D	1.9	L	-2.43	D	0.271	D	0.717	D	0.193	3.686	18.73	1.49	0.078	1.003	6.130	0.512	0.0710694041013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.026	0.55759	D	0.998	0.73220	D	0.97	0.72226	D	0.000110	0.50451	D	0.201649	0.999806	0.49283	D	1.195	0.30194	L	-2.43	0.88689	D	-3.62	0.69593	D	0.258	0.29197	0.271	0.87085	D	0.717	0.90290	D	10	0.36830625	0.53276	T	0.071069	0.71172	D	0.512	0.79094	0.617	0.75116	0.783247047901	0.78124	0.4468493704695534	0.44602	0.180464951162	0.20297	0.31728720665	0.13009	T	0.519467	0.83168	D	-0.0233687	0.48372	T	-0.271344	0.47683	T	0.960074663162231	0.65706	D	0.525947	0.17303	T	0.35840684	0.57714	0.31719327	0.57696	0.35840684	0.57714	0.31719327	0.57695	-9.62	0.71603	D	.	.	0.149	0.32945	B	.	.	2.338110	0.29957	18.29	0.99532510571281729	0.69963	0.69764	0.34318	D	ALL	0.384408	0.46554	N	0.104765132330059	0.46685	2.905107	0.0329442109269923	0.41254	2.475473	0.99999991918703	0.74766	0.648878	0.45929	0	0.596394	0.48810	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	5.2	1.49	0.21966	1.099000	0.30625	-0.894000	0.07016	-1.448000	0.01097	1.000000	0.71638	0.012000	0.20211	0.966000	0.53164	0.0:0.148:0.1363:0.7156	6.130	0.19418	305	0.87738	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1480.98	39	chr12	51341283	.	T	G	1480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.543e+00;DP=885;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.104;SOR=0.790	GT:AD:DP:GQ:PL	0/1:52,63:115:99:1495,0,1276	20	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.928	P	0.503	P	0.000	D	0.817	N	1.76	L	-2.82	D	0.033	D	0.626	D	0.12	2.608	14.68	2.46	0.518	0.299	7.062	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2647	805.0	65	chr12	51706661	.	G	C	805.0	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-2.321e+00;DP=1362;ExcessHet=4.7172;FS=136.953;InbreedingCoeff=-0.3697;MLEAC=10;MLEAF=0.294;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=1.14;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,16:50:98:.:.:98,0,615	8	0	9	4
chr12	52385056	52385056	G	C	exonic	KRT84	.	nonsynonymous SNV	KRT84:NM_033045:exon1:c.C530G:p.A177G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.605	H	-3.65	D	1.078	D	0.938	D	0.649	4.170	21.6	5.03	2.790	7.811	18.936	0.891	0.176906474143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000138	0.49741	D	0.000000	0.999991	0.58761	D	4.095	0.97289	H	-3.65	0.95179	D	-3.64	0.69835	D	0.853	0.84922	1.078	0.98810	D	0.938	0.97975	D	10	0.9246705	0.91817	D	0.176906	0.85252	D	0.891	0.96873	0.771	0.89767	0.975966307224	0.97570	0.5387444611866561	0.53799	0.219873754163	0.24531	0.673947811127	0.63400	T	0.575528	0.86016	D	0.322749	0.84668	D	0.22583	0.84466	D	0.999502182006836	0.97675	D	0.952205	0.81731	D	0.8957342	0.91004	0.85471135	0.91821	0.8957342	0.91006	0.85471135	0.91822	-10.131	0.74692	D	.	.	0.640	0.70527	P	.	.	5.271504	0.88515	29.6	0.99726064184576435	0.82406	0.98882	0.88116	D	AEFGBI	0.935306	0.92997	D	0.970799222495421	0.94775	13.02873	0.876790821287214	0.94479	12.79379	0.999999999999533	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.140000	0.89528	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.936	0.92560	633	0.64743	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	105.9	102	chr12	52385056	.	G	C	105.9	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.565e+00;DP=1552;ExcessHet=0.1072;FS=263.710;InbreedingCoeff=-0.0667;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.53;ReadPosRankSum=0.933;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,11:84:47:.:.:47,0,2048	18	0	2	1
chr12	52473676	52473676	T	C	exonic	KRT6C	.	nonsynonymous SNV	KRT6C:NM_173086:exon1:c.A62G:p.N21S,	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, Autosomal dominant	.	0	1479	43	0	0	43	0.0143286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	0.663	N	1.000	N	-0.735	N	-0.89	T	-0.995	T	0.126	T	0.071	-1.274	0.044	2.04	0.780	-0.443	7.055	0.145	0.0237197188592	.	.	0.0004	0.0020	0.0004	0.0002	0	0.0002	0	0.0002	3.84e-05	1	26028	rs757116227	0.0023	0.0086	0.0023	0.0023	0.0218	0.0023	0.0022	0.0204	0.0199	0.0218	0.0141	0.0002	0.0037	7.506e-05	0.0031	0.0011	0.0027	0.0066	0.0029	0.0094	0.0027	0.0032	0.0087	0.0027	0.0026	0.0079	0.0076	0.0087	0	0.0033	0	0.0022	9.535e-05	0	0.0004	0.0010	0.0036	1.0	0.00964	T	0.54	0.09760	T	0.0	0.02946	B	0.0	0.01387	B	0.663456	0.10407	N	0.860801	1	0.08975	N	-0.64	0.02118	N	-0.89	0.74793	T	1.21	0.01064	N	0.075	0.04913	-0.9952	0.31245	T	0.126	0.43070	T	10	0.016490638	0.00348	T	0.02372	0.46692	T	0.145	0.38592	.	.	0.370240404367	0.36630	0.03666397461304288	0.03613	1.29320391004	0.82848	0.433197557926	0.29646	T	0.004361	0.03768	T	-0.249183	0.14198	T	-0.595711	0.13174	T	0.00825019784137431	0.00099	T	0.0964904	0.00716	T	0.03286239	0.03392	0.03956325	0.04079	0.03286239	0.03391	0.03956325	0.04078	2.324	0.00038	T	.	.	0.043	0.00028	B	.	.	0.054250	0.04668	1.318	0.61138517215947952	0.06635	0.01666	0.05334	N	AEFBI	0.024479	0.01522	N	-1.23179637125951	0.04545	0.2053596	-1.1414974819975	0.06922	0.3348353	8.84291523541453E-4	0.07960	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.93	2.04	0.25787	-0.605000	0.05757	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.233000	0.22815	0.0:0.6453:0.2451:0.1096	7.055	0.24274	682	0.59757	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	0	0	0	0	0.07143	463.75	43	chr12	52473676	.	T	C	463.75	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.778;DP=1014;ExcessHet=0.3300;FS=41.120;InbreedingCoeff=-0.0732;MLEAC=2;MLEAF=0.048;MQ=49.95;MQRankSum=-3.997e+00;QD=1.47;ReadPosRankSum=-1.084e+00;SOR=2.019	GT:AD:DP:GQ:PL	0/1:68,7:75:8:8,0,1837	18	0	3	0
chr12	52949315	52949315	G	C	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon1:c.G142C:p.V48L	Cirrhosis, cryptogenic, Autosomal recessive	.	400	768	347	0	7	354	0.18428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.65	P	0.223	B	0.138	N	1.000	N	2.865	M	-1.57	D	-0.406	T	0.471	T	0.427	2.081	12.91	0.954	0.219	-0.441	7.665	0.446	0.210614070419	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359140246	6.957e-07	0.0003	0	1.399e-06	3.037e-05	0	0	.	.	3.037e-05	0	0	0	0	0	0	0	0	0.0011	0.0092	0.0010	0.0012	0.0024	0.0010	0.0009	0.0013	0.0012	0.0003	0.0024	0.0008	0.0021	0	0.0016	0	0.0015	0.0016	0.0024	0.187	0.21385	T	0.404	0.14818	T	0.519	0.40644	P	0.111	0.37929	B	0.138376	0.18380	N	0.416972	1	0.81001	D	2.265	0.64440	M	-1.57	0.82347	D	-1.0	0.26422	N	0.082	0.05799	-0.4056	0.71850	T	0.471	0.79663	T	10	0.083414674	0.13874	T	0.210614	0.87261	D	0.446	0.74797	0.415	0.45380	0.860313002099	0.85896	0.7160274570190178	0.71545	0.531599379089	0.50652	0.573910236359	0.49230	T	0.147259	0.48525	T	0.0174853	0.54042	T	-0.21266	0.53441	T	0.265387445688248	0.23549	T	0.0516948	0.00385	T	0.047216356	0.08035	0.043877922	0.05557	0.047216356	0.08035	0.043877922	0.05557	-4.986	0.36687	T	0.2609872102591527	0.35238	0.319	0.56786	B	.;.;.	.;.;.	0.909457	0.12836	9.352	0.95101178256288821	0.26176	0.54699	0.29680	D	AEFDBHCI	0.804658	0.72946	D	-0.508296202011104	0.21811	1.160241	-0.604811601927955	0.19369	1.038886	0.999992841170832	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	3.79	0.954	0.18719	-0.106000	0.10860	.	.	-0.227000	0.07798	0.000000	0.06391	0.005000	0.19230	0.311000	0.24761	0.3008:0.0:0.6992:0.0	7.665	0.27595	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	15089.32	89	chr12	52949315	.	G	A,C	15089.32	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.47;DP=1835;ExcessHet=54.0936;FS=3.984;InbreedingCoeff=-1.0000;MLEAC=20,1;MLEAF=0.476,0.024;MQ=56.35;MQRankSum=-9.015e+00;QD=8.31;ReadPosRankSum=-4.930e-01;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,20,0:81:99:0|1:52949249_G_A:656,0,2501,840,2561,3401:52949249	0	0	20	0
chr12	53185420	53185420	C	T	exonic	ZNF740	.	nonsynonymous SNV	ZNF740:NM_001004304:exon4:c.C193T:p.R65C,	.	.	430	1057	34	1	0	36	0.0167442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.931	P	0.061	B	0.003	N	1.000	D	0.55	N	3.07	T	-0.842	T	0.008	T	0.68	3.905	19.86	3.96	1.416	4.098	10.685	0.087	0.0244779474361	0.0054	0.00159744	0.0052	0.0004	0.0034	0	0.0047	0.0070	0.0045	0.0050	0.0052134	806	154602	rs187594342	0.0068	0.0068	0.0068	0.0068	0.0092	0.0067	0.0067	0.0073	0.0073	0.0012	0.0027	0.0179	2.519e-05	0.0042	0.0092	0.0074	0.0073	0.0040	0.0044	0.0044	0.0044	0.0044	0.0065	0.0041	0.0040	0.0060	0.0058	0.0008	0.0011	0.0020	0.0225	0	0.0047	0.0034	0.0065	0.0071	0.0042	0.0	0.91255	D	0.002	0.79402	D	0.931	0.51899	P	0.061	0.26820	B	0.002536	0.36389	N	0.194783	0.999999	0.58761	D	1.87	0.49600	L	3.07	0.08547	T	-1.24	0.31375	N	0.584	0.60495	-0.8420	0.52513	T	0.008	0.02679	T	10	0.0073727965	0.00168	T	0.024478	0.47468	T	0.087	0.25287	.	.	0.171220215726	0.16700	0.3601703895602559	0.35931	1.08449223616	0.77234	0.688966810703	0.65558	T	0.046019	0.27299	T	-0.332407	0.05931	T	-0.243717	0.50435	T	0.0609010521928479	0.07310	T	0.838916	0.51225	T	0.23191017	0.45970	0.1342924	0.32183	0.23191017	0.45970	0.1342924	0.32182	-4.923	0.35993	T	.	.	0.218	0.44847	B	.	.	5.114336	0.85514	28.6	0.99923972068901667	0.98917	0.91169	0.52995	D	AEFBI	0.534972	0.55379	D	0.0597712260261759	0.44592	2.73052	0.157251626061201	0.47527	2.981637	0.999994350597713	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	3.96	0.45097	4.313000	0.58952	5.944000	0.51530	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9094:0.0:0.0906	10.685	0.45033	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	0.04762	1503.11	33	chr12	53185420	.	C	T	1503.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.42;DP=744;ExcessHet=0.1072;FS=1.658;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.82;ReadPosRankSum=1.43;SOR=0.884	GT:AD:DP:GQ:PL	0/1:21,24:45:99:706,0,418	19	0	2	0
chr12	53973795	53973795	C	A	exonic	HOXC11	.	nonsynonymous SNV	HOXC11:NM_014212:exon1:c.C554A:p.P185Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.001	B	0.001	D	0.892	D	0	N	1.82	T	-0.138	T	0.491	T	0.242	0.867	8.514	3.24	2.338	2.955	11.385	0.074	0.20393996204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.943e-07	6.841e-07	1.379e-06	0	3.081e-05	0	0	.	.	3.081e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.29688	T	0.115	0.36630	T	0.001	0.07471	B	0.001	0.04355	B	0.000511	0.43753	D	0.197709	0.891747	0.35968	D	0	0.06538	N	-2.95	0.91903	D	-1.67	0.42001	N	0.114	0.35194	-0.1376	0.79224	T	0.491	0.80673	T	10	0.17142197	0.31859	T	0.20394	0.86903	D	0.074	0.21613	0.325	0.30711	0.912192421923	0.91131	0.46548259915495976	0.46467	.	.	0.780344367027	0.78979	T	0.036082	0.30084	T	-0.00928102	0.50366	T	-0.251108	0.49707	T	0.402309520924846	0.29029	T	0.556144	0.20452	T	0.10628061	0.25129	0.20598917	0.44792	0.10628061	0.25129	0.20598917	0.44791	-5.209	0.39033	T	.	.	0.072	0.10159	B	.;.	.;.	2.905113	0.38521	20.8	0.92200239905065018	0.21570	0.70686	0.34694	D	ALL	0.174200	0.30132	N	-0.263367602100421	0.30573	1.706008	-0.0766032370036616	0.36361	2.115014	0.9999999999998	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.21	3.24	0.36257	4.049000	0.57110	2.596000	0.33495	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.2366:0.7634:0.0:0.0	11.385	0.49019	211	0.91797	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1185.98	35	chr12	53973795	.	C	A	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.311;DP=888;ExcessHet=0.0000;FS=0.809;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.545;SOR=0.574	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1200,0,998	20	0	1	0
chr12	55426420	55426420	C	G	exonic	OR6C76	.	nonsynonymous SNV	OR6C76:NM_001005183:exon1:c.C167G:p.P56R,	.	.	434	1082	6	0	0	6	0.00276498	.	.	2735439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.998	D	0.968	D	0.001	U	0.953	D	4.455	H	4.49	T	-0.742	T	0.064	T	0.595	3.532	18.03	4.35	2.405	5.108	17.015	0.196	0.0132700389094	.	.	0.0001	9.615e-05	0	0	0	0.0002	0	0.0001	0.00011	17	154602	rs778131455	7.526e-05	7.524e-05	5.582e-05	9.49e-05	0.0035	6.383e-05	5.939e-05	0.0023	0.0019	0.0001	0	0	0	1.873e-05	0.0035	5.576e-05	0.0002	0.0001	1.314e-05	1.312e-05	2.571e-05	0	1.471e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.968	0.71741	D	0.000692	0.42383	U	0.000000	0.952997	0.37810	D	3.965	0.96539	H	4.49	0.02049	T	-8.03	0.96581	D	0.728	0.72925	-0.7422	0.58339	T	0.064	0.26349	T	10	0.80940235	0.80241	D	0.01327	0.32542	T	0.196	0.47777	.	.	0.204665344411	0.20097	0.40013164558105546	0.39928	0.265818566732	0.29134	0.222269922495	0.01445	T	0.013642	0.11764	T	-0.246786	0.14496	T	-0.300119	0.44712	T	0.967052042484283	0.67783	D	0.850515	0.53399	D	0.8880923	0.90344	0.8630441	0.92388	0.8880923	0.90346	0.8630441	0.92388	-10.876	0.78973	D	.	.	0.191	0.40952	B	.	.	2.739929	0.35886	20.1	0.99795603440528824	0.88106	0.97970	0.78525	D	AEFI	0.510336	0.53943	D	0.855644782669748	0.89428	9.967367	0.68748287372722	0.81429	7.524262	0.341869315816874	0.19592	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.35	4.35	0.51454	5.481000	0.66549	.	.	0.520000	0.23804	0.984000	0.35821	0.138000	0.23065	0.855000	0.40485	0.0:1.0:0.0:0.0	17.015	0.86290	707	0.57054	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	2004.98	49	chr12	55426420	.	C	G	2004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.92;DP=1126;ExcessHet=0.0000;FS=4.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-9.710e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:104,82:186:99:2019,0,2389	20	0	1	0
chr12	56106718	56106718	-	AA	splicing	PA2G4	NM_006191:exon2:c.217+2->AA	.	.	.	.	12	180	28	5	1	39	0.0954774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	.	0.0014	0.0031	0.0003	0.0096	0.0002	0.0004	0.0028	0.0011	0.0002689	7	26028	rs34728522	0.0009	0.0013	0.0009	0.0009	0.0130	0.0009	0.0008	0.0120	0.0116	0.0040	0.0004	0.0006	0.0130	0.0003	0.0002	0.0003	0.0026	0.0011	0.0013	0.0014	0.0013	0.0013	0.0126	0.0011	0.0011	0.0101	0.0092	0.0016	0	0.0018	0.0006	0.0126	0	0	0.0002	0.0069	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	4355.8	33	chr12	56106718	.	T	TA,TAA	4355.8	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=1.16;DP=919;ExcessHet=0.0409;FS=3.717;InbreedingCoeff=0.2976;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-9.390e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/1:45,38,0:83:99:718,0,954,852,1067,1920	17	0	3	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	0/1:58,5:65:32:.:.:32,0,2085	11	0	10	0
chr12	56716774	56716774	T	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.A4756G:p.T1586A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	B	0.006	B	.	.	1.000	N	.	.	0.87	T	-1.019	T	0.052	T	0.058	0.464	6.518	-1.65	0.024	-0.395	4.844	0.003	0.00228384647801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.672e-06	0.0001	1.634e-06	1.712e-06	2.097e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.097e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.719	0.05363	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	0.47	0.03090	N	0.057	0.02861	-1.0187	0.24139	T	0.052	0.22269	T	7	0.052386343	0.05265	T	0.002284	0.04369	T	0.003	0.00094	0.231	0.15855	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.05443	0.29723	T	-0.317768	0.07082	T	-0.694228	0.06147	T	0.0645078461183593	0.07859	T	0.325967	0.06723	T	0.04106803	0.05981	0.041717745	0.04806	0.04106803	0.05980	0.041717745	0.04805	-6.846	0.52900	T	.	.	0.134	0.29032	B	.	.	-0.114785	0.03555	0.684	0.19066523652983547	0.00627	0.13174	0.17706	N	AEFDBHCI	0.058886	0.11081	N	-1.18737061141861	0.05191	0.2360293	-1.27587405181014	0.04759	0.2252294	0.999971354431567	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	-1.65	0.07849	-3.807000	0.00406	-0.245000	0.10556	0.514000	0.23422	0.000000	0.06391	0.019000	0.20708	0.178000	0.21234	0.1834:0.5085:0.0:0.3081	4.844	0.12867	45	0.97767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	83.5	65	chr12	56716774	.	T	C	83.5	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-9.180e-01;DP=1431;ExcessHet=0.6776;FS=89.750;InbreedingCoeff=-0.0938;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.28;ReadPosRankSum=0.466;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,9:67:51:.:.:51,0,2080	17	0	4	0
chr12	57002801	57002801	G	A	exonic	ZBTB39	.	nonsynonymous SNV	ZBTB39:NM_014830:exon2:c.C2117T:p.A706V,	.	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.991	D	0.403	B	0.007	N	0.985	D	0	N	3.08	T	-0.895	T	0.016	T	0.431	3.345	17.26	5.44	2.549	7.344	16.761	0.156	0.00933289930028	0.0008	0.000998403	0.0007	0.0015	0.0006	0.0001	0	0.0008	0.0011	0.0004	0.0006662	103	154602	rs116414697	0.0004	0.0004	0.0004	0.0004	0.0104	0.0004	0.0004	0.0083	0.0075	0.0019	0.0004	0.0001	2.519e-05	0	0.0104	0.0003	0.0010	0.0003	0.0008	0.0008	0.0009	0.0007	0.0018	0.0007	0.0006	0.0015	0.0013	0.0018	0	0.0006	0	0	0	0.0068	0.0005	0.0005	0.0002	0.17	0.22833	T	0.178	0.29639	T	0.991	0.64070	D	0.403	0.44588	B	0.006645	0.31890	N	0.260319	0.984849	0.40201	D	0.345	0.11182	N	3.08	0.08460	T	-0.11	0.08653	N	0.071	0.04426	-0.8950	0.48483	T	0.016	0.06377	T	10	0.008271784	0.00188	T	0.009333	0.24483	T	0.156	0.40720	.	.	0.514811571519	0.51123	0.1858548726312891	0.18503	0.171660082868	0.19330	0.543152630329	0.44891	T	0.013812	0.11878	T	-0.460822	0.00972	T	-0.441979	0.28586	T	0.0425485443005567	0.04156	T	0.647535	0.25853	T	0.032245614	0.03213	0.053874213	0.09157	0.032245614	0.03212	0.053874213	0.09157	-4.067	0.24802	T	.	.	0.121	0.25166	B	.	.	3.486579	0.48718	22.7	0.99710074616565936	0.81283	0.99293	0.94067	D	AEFDBI	0.803577	0.72868	D	0.375915727508221	0.60120	4.197504	0.494142150245018	0.67602	5.105908	0.99999999999537	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	6.749000	0.74678	7.623000	0.62394	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	16.761	0.85372	152	0.94023	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1747.98	33	chr12	57002801	.	G	A	1747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=816;ExcessHet=0.0000;FS=8.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-1.391e+00;SOR=1.473	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1762,0,1235	20	0	1	0
chr12	57044140	57044140	C	A	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon9:c.G710T:p.G237V	.	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-2.46	D	0.831	D	0.834	D	0.626	3.023	16.09	4.81	2.654	2.779	13.578	0.641	0.1354818905	.	0.000399361	0.0005	0	0	0	0	1.498e-05	0.0011	0.0036	0.0004075	63	154602	rs560195758	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	6.708e-05	0	2.519e-05	0	0	4.496e-06	0.0002	0.0035	9.192e-05	9.186e-05	1.285e-05	0.0002	0.0029	5.524e-05	4.361e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.005	0.63226	D	0.031	0.53788	D	1.0	0.90584	D	1.0	0.97372	D	0.000184	0.48115	D	0.174340	1	0.81001	D	2.865	0.83145	M	-2.46	0.88924	D	-3.65	0.69950	D	0.658	0.66787	0.831	0.94797	D	0.834	0.94429	D	10	0.108454645	0.20189	T	0.135482	0.81794	D	0.641	0.86333	0.715	0.85051	0.918274983411	0.91745	0.6861370824405457	0.68553	0.386541254398	0.39939	0.437900453806	0.30291	T	0.736438	0.92664	D	-0.148664	0.28520	T	0.0112561	0.71063	D	0.20370182979876	0.20618	T	0.758124	0.38180	T	0.5532322	0.70136	0.47304904	0.69454	0.5532322	0.70137	0.47304904	0.69455	-10.299	0.75682	D	.	.	0.152	0.33573	B	.;.	.;.	3.302575	0.45341	22.1	0.99762685991083577	0.85172	0.94239	0.60538	D	AEFGBI	0.628709	0.61069	D	0.647120448111958	0.76184	6.439575	0.534174003780549	0.70306	5.485601	0.999802481960567	0.43304	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.81	4.81	0.61401	2.999000	0.49161	1.439000	0.26511	0.599000	0.40250	0.974000	0.34632	0.277000	0.24084	0.034000	0.13613	0.0:1.0:0.0:0.0	13.578	0.61350	180	0.92993	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1370.98	37	chr12	57044140	.	C	A	1370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.050e-01;DP=776;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.32;ReadPosRankSum=0.898;SOR=0.555	GT:AD:DP:GQ:PL	0/1:33,51:84:99:1385,0,851	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	0/1:79,61:140:99:1269,0,1762	19	0	2	0
chr12	64094951	64094951	C	T	exonic	SRGAP1	.	nonsynonymous SNV	SRGAP1:NM_001346201:exon13:c.C1490T:p.P497L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.004	U	1.000	D	4.66	H	-1.67	D	1.041	D	0.862	D	0.965	4.754	26.6	5.05	2.506	7.731	18.778	0.871	0.477149508009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321506999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.569e-06	0	1.346e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.003518	0.34847	U	0.000000	1	0.81001	D	5.245	0.99966	H	-1.67	0.82806	D	-8.91	0.97942	D	0.994	0.99899	1.041	0.97931	D	0.862	0.95394	D	9	0.9766516	0.97462	D	0.47715	0.94780	D	0.871	0.96133	0.818	0.93195	0.917048781376	0.91621	0.9220230046232393	0.92179	0.853553387311	0.68658	0.808189690113	0.83214	D	0.658826	0.89736	D	0.445754	0.92290	D	0.402518	0.92194	D	0.999464809894562	0.97510	D	0.983302	0.94339	D	0.581759	0.71704	0.55074006	0.74023	0.581759	0.71705	0.55074006	0.74024	-10.144	0.74769	D	.	.	0.971	0.89526	P	.;.;.	.;.;.	5.271034	0.88506	29.6	0.99810721164317762	0.89442	0.99127	0.91622	D	AEFBI	0.884659	0.81453	D	0.985702751092392	0.95289	13.47936	0.859280216376727	0.93545	12.11502	1.0	0.98316	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	7.842000	0.85116	7.707000	0.66598	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.778	0.91883	917	0.20147	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	122.14	41	chr12	64094951	.	C	T	122.14	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-2.450e+00;DP=926;ExcessHet=1.7912;FS=99.434;InbreedingCoeff=-0.1390;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=-6.800e-02;SOR=9.736	GT:AD:DP:GQ:PL	0/1:35,11:46:10:10,0,636	15	0	6	0
chr12	66541927	66541927	C	T	exonic	GRIP1	.	nonsynonymous SNV	GRIP1:NM_001178074:exon3:c.G160A:p.V54I	Fraser syndrome, Autosomal recessive	.	2	1495	25	0	0	25	0.00829187	.	.	389156	Fraser_syndrome_3|not_specified|not_provided|Abnormal_brain_morphology	MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	1.0	D	0.978	D	0.000	D	1.000	D	1.77	L	0.82	T	-0.705	T	0.268	T	0.466	3.767	19.12	5.36	2.698	7.782	19.465	0.236	0.0182897217256	0.0007	0.000399361	0.0012	0.0003	0.0014	0	0.0002	0.0016	0.0011	0.0013	0.001119	173	154602	rs199768740	0.0010	0.0010	0.0009	0.0010	0.0168	0.0009	0.0009	0.0141	0.0131	0.0003	0.0017	0.0063	0	3.744e-05	0.0168	0.0007	0.0020	0.0014	0.0009	0.0009	0.0009	0.0009	0.0016	0.0008	0.0007	0.0011	0.0010	0.0002	0	0.0016	0.0072	0	0	0.0136	0.0009	0.0033	0.0008	0.006	0.61437	D	0.015	0.61642	D	1.0	0.90584	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.76	0.45711	L	0.82	0.48142	T	-0.69	0.24460	N	0.618	0.65930	-0.7051	0.60193	T	0.268	0.63950	T	9	0.010997534	0.00242	T	0.01829	0.40304	T	0.236	0.53931	.	.	0.431952752558	0.42816	0.3142456696913275	0.31337	0.415408216201	0.42198	0.571003317833	0.48820	T	0.28128	0.65400	T	-0.340646	0.05343	T	-0.29217	0.45547	T	0.827088177204132	0.48305	D	0.911709	0.69569	D	0.23895912	0.46780	0.115309395	0.27836	0.183039	0.39552	0.12022018	0.29014	-9.13	0.68530	D	0.370159556025135	0.46576	0.335	0.55590	B	.;.;.;.;.	.;.;.;.;.	3.536596	0.49643	22.8	0.997322703419811	0.82833	0.98409	0.82480	D	AEFI	0.912047	0.87216	D	0.434122937676274	0.63307	4.562121	0.345096248019264	0.58213	3.990521	0.999999982334639	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.905000	0.86479	7.702000	0.66341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:1.0:0.0:0.0	19.465	0.94927	721	0.55360	.;PDZ domain;PDZ domain;PDZ domain;PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1167.98	36	chr12	66541927	.	C	T	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.62;ReadPosRankSum=-1.736e+00;SOR=0.751	GT:AD:DP:GQ:PL	0/1:59,51:110:99:1182,0,1284	20	0	1	0
chr12	70353915	70353915	A	-	exonic	CNOT2	.	nonframeshift deletion	CNOT2:NM_001199303:exon16:c.1623delA:p.X541X	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	2/3:2,0,4,4:10:41:90,121,253,42,115,107,41,117,0,91	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	2/3:2,0,4,4:10:41:90,121,253,42,115,107,41,117,0,91	3	0	8	0
chr12	71577986	71577986	C	G	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon13:c.C1198G:p.L400V	.	.	433	1058	26	5	0	36	0.0167286	.	.	725271	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.98	D	0.000	D	0.968	D	3.19	M	3.5	T	-0.070	T	0.386	T	0.881	3.272	16.98	4.39	1.182	0.952	9.556	0.331	.	0.0052	0.0071885	0.0074	0.0011	0.0016	0.0005	0.0065	0.0071	0.0143	0.0202	0.0069533	1075	154602	rs138215571	0.0065	0.0066	0.0059	0.0071	0.0216	0.0064	0.0063	0.0207	0.0204	0.0007	0.0022	0.0010	0.0003	0.0055	0.0132	0.0060	0.0072	0.0216	0.0049	0.0049	0.0046	0.0052	0.0228	0.0046	0.0045	0.0193	0.0180	0.0011	0	0.0039	0.0006	0.0004	0.0051	0.0136	0.0065	0.0118	0.0228	0.003	0.68238	D	0.005	0.72224	D	0.998	0.73220	D	0.98	0.74843	D	0.000287	0.46274	D	0.000000	0.96767	0.38609	D	3.065	0.87014	M	3.5	0.66113	T	-2.43	0.55339	N	0.764	0.81162	-0.0696	0.80789	T	0.386	0.74136	T	10	0.007958859	0.00181	T	.	.	.	0.331	0.65325	.	.	0.935978234382	0.93531	0.7107525724361232	0.71017	0.344829867764	0.36407	0.516217410564	0.41094	T	0.456447	0.79521	T	-0.0760579	0.40353	T	0.134228	0.79166	D	0.0618834212141487	0.07462	T	0.835216	0.84482	T	0.6065306	0.73042	0.33984563	0.59744	0.6065306	0.73043	0.33984563	0.59743	-8.579	0.64950	D	.	.	0.152	0.39999	B	.;.;.	.;.;.	3.077795	0.41394	21.3	0.99826733912632593	0.90939	0.91336	0.53328	D	AEFBCI	0.519773	0.54491	D	0.602347789383223	0.73322	5.94738	0.507271652457146	0.68478	5.225638	0.195574354562646	0.18054	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.31	4.39	0.52211	0.971000	0.28993	3.258000	0.37072	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.952000	0.50033	0.0:0.8349:0.0:0.1651	9.556	0.38506	869	0.31655	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1617.98	33	chr12	71577986	.	C	G	1617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.542e+00;DP=813;ExcessHet=0.0000;FS=3.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=-8.600e-02;SOR=1.071	GT:AD:DP:GQ:PL	0/1:50,66:116:99:1632,0,1287	20	0	1	0
chr12	75391267	75391267	G	A	exonic	GLIPR1L2	.	nonsynonymous SNV	GLIPR1L2:NM_001270396:exon1:c.G151A:p.V51I	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.086	B	0.008	B	0.106	N	1.000	D	0.46	N	2.99	T	-0.993	T	0.016	T	0.128	1.803	11.99	2.88	1.174	0.942	7.532	0.014	0.00400623964211	0.0021	0.000399361	0.0026	0.0006	0.0015	0	0.0017	0.0040	0.0033	0.0007	0.0024321	376	154602	rs146467128	0.0030	0.0030	0.0031	0.0030	0.0047	0.0030	0.0029	0.0033	0.0033	0.0006	0.0018	0.0076	2.519e-05	0.0013	0.0047	0.0034	0.0030	0.0006	0.0021	0.0021	0.0022	0.0020	0.0036	0.0019	0.0019	0.0032	0.0031	0.0005	0	0.0009	0.0075	0	0.0007	0.0034	0.0036	0.0038	0.0002	0.175	0.22400	T	0.176	0.29843	T	0.086	0.24919	B	0.008	0.13708	B	0.105615	0.19650	N	0.513006	1	0.81001	D	0.695	0.17993	N	2.99	0.09262	T	-0.78	0.23590	N	0.195	0.22098	-0.9926	0.31933	T	0.016	0.06473	T	10	0.003818214	0.00072	T	0.004006	0.09493	T	0.014	0.01968	.	.	0.270001397563	0.26616	0.22744089038220763	0.22659	0.0379314049417	0.04027	0.466479957104	0.34198	T	0.01303	0.11342	T	-0.51654	0.00461	T	-0.516223	0.20678	T	0.0304025773741608	0.02052	T	0.611839	0.25562	T	0.055617258	0.10834	0.09886479	0.23584	0.055617258	0.10833	0.09886479	0.23584	-3.799	0.21373	T	.	.	0.115	0.23535	B	.;.;.	.;.;.	1.938200	0.24616	16.46	0.98798855272062636	0.46413	0.36009	0.25434	N	ALL	0.083016	0.16816	N	-0.605943996161877	0.18765	0.9768618	-0.483843414062275	0.22598	1.228215	0.999999999999999	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.77	2.88	0.32617	0.956000	0.28799	3.523000	0.38910	-0.119000	0.14319	0.681000	0.28448	0.996000	0.32793	0.940000	0.48062	0.1167:0.0:0.8833:0.0	7.532	0.26858	894	0.26265	.;.;.	.	.	.	.	.	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	1727.98	35	chr12	75391267	.	G	A	1727.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=855;ExcessHet=0.0000;FS=0.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=0.907;SOR=0.622	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1742,0,1609	20	0	1	0
chr12	79621147	79621147	T	C	exonic	PAWR	.	nonsynonymous SNV	PAWR:NM_001354732:exon3:c.A577G:p.I193V	.	.	424	1041	52	5	0	62	0.0289179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.003	B	0.005	N	0.843	N	0.695	N	2.33	T	-1.016	T	0.053	T	0.166	-0.097	3.526	1.55	0.071	0.261	8.495	0.006	.	0.0013	0.00858626	0.0061	0.0002	0.0026	0	0.0005	0.0020	0.0088	0.0347	0.0053945	834	154602	rs114414439	0.0030	0.0030	0.0020	0.0041	0.0330	0.0030	0.0029	0.0320	0.0316	0.0004	0.0019	0.0059	0.0002	0.0004	0.0116	0.0009	0.0035	0.0330	0.0022	0.0022	0.0017	0.0027	0.0313	0.0020	0.0019	0.0272	0.0257	0.0002	0	0.0022	0.0069	0.0002	0.0007	0.0136	0.0014	0.0028	0.0313	0.408	0.10212	T	0.889	0.03143	T	0.001	0.07471	B	0.003	0.08700	B	0.004962	0.33218	N	0.295460	0.843411	0.28599	N	0.955	0.23872	L	2.33	0.16492	T	-0.4	0.13805	N	0.084	0.06059	-1.0162	0.24948	T	0.053	0.22384	T	9	0.0024989247	0.00038	T	.	.	.	0.009	0.00846	.	.	0.152612264143	0.14878	0.04010957006196938	0.03956	0.357847506727	0.37495	0.317540466785	0.13048	T	0.253372	0.62388	T	-0.60912	0.00128	T	-0.622668	0.10977	T	0.00117452984299329	0.00011	T	0.583942	0.21221	T	0.012372446	0.00032	0.021040784	0.00170	0.012372446	0.00032	0.021040784	0.00170	-2.672	0.07071	T	.	.	0.073	0.04764	B	.	.	0.441101	0.08112	4.841	0.60576393731601175	0.06497	0.19118	0.20535	N	AEFBI	0.053732	0.09706	N	-0.324694081356762	0.28212	1.554285	-0.319452404254109	0.27471	1.524549	0.0945339958991377	0.16207	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.55	0.22356	0.298000	0.18874	-0.056000	0.12484	-0.112000	0.15009	0.469000	0.26714	0.003000	0.18671	0.936000	0.47498	0.0:0.3588:0.0:0.6412	8.495	0.32282	772	0.48957	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1928.11	48	chr12	79621147	.	T	C	1928.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.215;DP=955;ExcessHet=0.1072;FS=0.560;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=0.372;SOR=0.773	GT:AD:DP:GQ:PL	0/1:46,40:86:99:933,0,1161	19	0	2	0
chr12	79796908	79796908	T	C	exonic	PPP1R12A	.	nonsynonymous SNV	PPP1R12A:NM_001244992:exon16:c.A2167G:p.T723A	.	.	432	1078	11	1	0	13	0.00599355	.	.	1617562	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.09	T	0.013	B	0.012	B	0.013	N	0.998	D	0.49	N	1.25	T	-1.070	T	0.049	T	0.213	2.648	14.81	3.34	0.954	0.412	6.524	0.018	0.00487012770318	.	0.00159744	0.0015	0	0.0003	0	0	0.0003	0.0022	0.0094	0.0012419	192	154602	rs201175104	0.0006	0.0006	0.0004	0.0008	0.0083	0.0006	0.0006	0.0078	0.0076	0	0.0004	3.831e-05	2.525e-05	0	0.0033	0.0001	0.0008	0.0083	0.0003	0.0003	0.0002	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	0	0	0.0001	0	0	0	0.0034	0.0001	0	0.0060	0.117	0.31682	T	0.304	0.23570	T	0.0	0.16609	B	0.0	0.16012	B	0.012556	0.29135	N	0.403521	0.880034	0.44417	D	1.18	0.29980	L	1.21	0.37746	T	-1.66	0.42575	N	0.106	0.13198	-1.0695	0.09523	T	0.049	0.21026	T	10	0.0052392483	0.00114	T	0.00487	0.12224	T	0.018	0.03083	.	.	0.334371577756	0.33041	0.14743659216693095	0.14665	0.128782013625	0.14521	0.346563100815	0.17415	T	0.236569	0.60407	T	-0.518218	0.00451	T	-0.512174	0.21092	T	0.0133029066152891	0.00238	T	0.734227	0.35417	T	0.04064586	0.05840	0.04548814	0.06130	0.04064586	0.05840	0.04548814	0.06129	-4.452	0.31227	T	.	.	0.064	0.02639	B	.;.;.;.;.	.;.;.;.;.	2.155080	0.27454	17.47	0.98668010789882676	0.44428	0.72737	0.35593	D	AEFBI	0.097586	0.19680	N	-0.361977633314355	0.26835	1.467603	-0.184481747318355	0.32106	1.823349	0.0292048284316731	0.13874	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	3.34	0.37357	0.543000	0.22945	1.497000	0.26929	0.665000	0.62972	0.888000	0.31154	1.000000	0.68203	0.998000	0.85391	0.122:0.1361:0.0:0.7419	6.524	0.21486	796	0.45353	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	819.98	35	chr12	79796908	.	T	C	819.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.270e+00;DP=809;ExcessHet=0.0000;FS=4.902;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.530;SOR=1.335	GT:AD:DP:GQ:PL	0/1:39,37:76:99:834,0,1063	20	0	1	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	0/1:19,22:41:99:526,0,441	19	0	2	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	0/1:17,17,0,0,0:34:99:607,0,593,659,644,1303,659,644,1303,1303,659,644,1303,1303,1303	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	0/1:17,17,0,0,0:34:99:607,0,593,659,644,1303,659,644,1303,1303,659,644,1303,1303,1303	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	0/1:17,17,0,0,0:34:99:607,0,593,659,644,1303,659,644,1303,1303,659,644,1303,1303,1303	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	0/1:17,17,0,0,0:34:99:607,0,593,659,644,1303,659,644,1303,1303,659,644,1303,1303,1303	6	1	11	0
chr12	103985730	103985730	-	GG	splicing	TDG	NM_001363612:exon8:c.661+2->GG;NM_003211:exon9:c.1090+2->GG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0014	0.0003	0.0006	0.0002	0.0008	0.0033	0.0030	3.84e-05	1	26028	rs749286024	0.0004	0.0057	0.0003	0.0004	0.0020	0.0004	0.0003	0.0017	0.0016	0.0007	0.0020	0.0004	0.0006	0.0007	0.0004	0.0002	0.0004	0.0014	4.013e-05	0.0061	5.227e-05	2.741e-05	9.835e-05	1.741e-05	1.146e-05	3.292e-05	1.943e-05	9.835e-05	0	0	0	0	9.669e-05	0	1.492e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	4718.56	63	chr12	103985730	.	T	TGGAGTTAAGAGGAG,TGGAGTTAAGAGGAGA,TGG	4718.56	.	AC=2,7,1;AF=0.048,0.167,0.024;AN=42;BaseQRankSum=3.76;DP=1742;ExcessHet=6.1002;FS=6.604;InbreedingCoeff=-0.3125;MLEAC=2,7,1;MLEAF=0.048,0.167,0.024;MQ=56.83;MQRankSum=-7.850e+00;QD=5.90;ReadPosRankSum=-3.934e+00;SOR=1.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:69,0,18,0:87:99:0|1:103985728_A_ATTGAGAGC:533,742,3613,0,2871,2817,742,3613,2871,3613:103985728	11	0	2	0
chr12	108887506	108887506	C	T	exonic	DAO	.	nonsynonymous SNV	DAO:NM_001917:exon3:c.C251T:p.A84V,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.959	D	0.000	D	1.000	D	2.535	M	1.17	T	0.425	D	0.683	D	0.545	3.707	18.83	5.52	2.599	5.665	18.024	0.500	0.139380528404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.72154	T	0.012	0.66756	D	1.0	0.90584	D	0.959	0.70163	D	0.000000	0.84330	D	0.049901	0.644584	0.81001	D	2.895	0.83812	M	1.17	0.80125	T	-2.76	0.67477	D	0.234	0.26354	0.425	0.89475	D	0.683	0.89040	D	10	0.7672936	0.76804	D	0.139381	0.82186	D	0.500	0.78350	0.631	0.76699	0.941913673381	0.94130	0.879160260496193	0.87883	0.296383753577	0.32023	0.41980278492	0.27809	T	0.078023	0.88857	T	0.112105	0.65570	D	-0.0767455	0.65141	T	0.973303735256195	0.70042	D	0.865313	0.56401	D	0.8648069	0.88455	0.70415854	0.82562	0.8648069	0.88456	0.70415854	0.82563	-8.324	0.63257	D	.	.	0.235	0.47665	B	.;.;.	.;.;.	4.521644	0.70897	25.6	0.99883026826557142	0.95892	0.96767	0.70829	D	AEFDBI	0.842534	0.75964	D	0.59920202224022	0.73126	5.915265	0.508282067301402	0.68548	5.235059	0.999999995011097	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.52	5.52	0.82153	5.981000	0.70207	5.860000	0.50423	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.466000	0.28252	0.0:1.0:0.0:0.0	18.024	0.89186	799	0.44747	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	1941.98	33	chr12	108887506	.	C	T	1941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.003e+00;DP=915;ExcessHet=0.0000;FS=1.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.368;SOR=0.579	GT:AD:DP:GQ:PL	0/1:95,85:180:99:1956,0,2588	20	0	1	0
chr12	109953174	109953174	T	C	exonic	GIT2	.	nonsynonymous SNV	GIT2:NM_001135214:exon13:c.A1160G:p.N387S	.	.	427	1094	1	0	0	1	0.00045683	.	.	1277521	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.3	T	0.109	B	0.099	B	0.000	D	1.000	D	1.87	L	-0.47	T	-0.961	T	0.026	T	0.196	2.076	12.90	5.22	1.978	2.255	14.282	0.145	.	7.7e-05	0.0145767	0.0054	0	0.0003	0.0747	0	0	0	0.0001	0.0049676	768	154602	rs925368	0.0027	0.0027	0.0027	0.0027	0.0958	0.0026	0.0026	0.0933	0.0922	2.987e-05	0.0002	0	0.0958	1.872e-05	0.0002	1.709e-05	0.0019	0.0001	0.0028	0.0028	0.0023	0.0032	0.0800	0.0026	0.0025	0.0737	0.0712	0	0	6.531e-05	0	0.0800	9.423e-05	0	2.94e-05	0.0005	0.0004	0.088	0.34095	T	0.32	0.30045	T	0.01	0.26142	B	0.027	0.30579	B	0.000003	0.62929	D	0.132813	0.998504	0.81001	D	1.445	0.36358	L	-0.56	0.71543	T	-1.73	0.45222	N	0.534	0.56489	-0.9608	0.39031	T	0.026	0.11131	T	10	0.0020668805	0.00029	T	.	.	.	0.145	0.38592	.	.	0.63826945483	0.63529	0.12165101868610946	0.12092	0.517528454387	0.49617	0.506075561047	0.39674	T	0.117043	0.43683	T	-0.445609	0.01199	T	-0.353682	0.38782	T	0.0259033472016651	0.01393	T	0.953705	0.96662	D	0.12608741	0.29542	0.118274905	0.28551	0.12608741	0.29541	0.118274905	0.28550	-4.129	0.26068	T	.	.	0.076	0.10062	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.803283	0.54811	23.5	0.98305378696901513	0.40087	0.93651	0.58804	D	AEFBI	0.399284	0.47463	N	-0.181013414670229	0.33926	1.930378	-0.0513962169231911	0.37430	2.191448	0.999999006596762	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	2.246000	0.42794	5.072000	0.47187	0.609000	0.47794	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.282	0.65767	577	0.69927	.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	465.98	34	chr12	109953174	.	T	C	465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.577;DP=764;ExcessHet=0.0000;FS=0.961;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.75;ReadPosRankSum=-1.260e-01;SOR=0.824	GT:AD:DP:GQ:PL	0/1:45,24:69:99:480,0,1050	20	0	1	0
chr12	110628923	110628923	G	A	exonic	TCTN1	.	nonsynonymous SNV	TCTN1:NM_001319682:exon4:c.G461A:p.S154N,	Joubert syndrome 13, Autosomal recessive	.	.	.	.	.	.	.	.	0.9819	0.712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0426171191547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	5.448e-06	1.376e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.06109	T	0.302	0.32608	B	0.121	0.32300	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.15333271	0.28945	T	0.042617	0.60557	D	.	.	.	.	0.614370161906	0.61125	.	.	.	.	.	.	.	.	.	.	-0.33182	0.05975	T	-0.714413	0.05070	T	.	.	.	0.284972	0.05045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.	.	2.472231	0.31864	18.87	0.68165143318971155	0.08575	0.15893	0.19132	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.828579610106998	0.24652	0.106106	0.02776	0	0.097471	0.02872	0	0.083675	0.02720	0	0.109871	0.03346	0	.	.	5.28	1.32	0.20897	1.425000	0.34467	6.317000	0.55438	0.672000	0.70159	0.932000	0.32345	1.000000	0.68203	0.839000	0.39591	0.34:0.1612:0.4988:0.0	4.316	0.10433	186	0.92733	.	.	.	.	.	.	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	0.07895	56.42	83	chr12	110628923	.	G	A	56.42	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.935e+00;DP=1798;ExcessHet=0.3300;FS=174.600;InbreedingCoeff=-0.1262;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=0.585;SOR=9.641	GT:AD:DP:GQ:PL	0/1:106,39:145:37:37,0,1760	16	0	3	2
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	0/2:9,0,28:37:99:.:.:664,691,981,0,290,208	2	0	0	0
chr12	111803962	111803962	G	A	exonic	ALDH2	.	nonsynonymous SNV	ALDH2:NM_001204889:exon11:c.G1369A:p.E457K	Alcohol sensitivity, acute, Autosomal dominant	.	0	1519	2	1	0	4	0.00131492	.	.	33429	AMED_syndrome,_digenic|Susceptibility_to_hangover|Sublingual_nitroglycerin,_susceptibility_to_poor_response_to|Esophageal_cancer,_alcohol-related,_susceptibility_to|Alcohol_sensitivity,_acute|Alcohol_dependence|ethanol_response_-_Toxicity	MONDO:MONDO:0030894,MedGen:C5436906,OMIM:619151,Orphanet:611216|MedGen:C2608086|MedGen:C2676227|MedGen:C3149226|MONDO:MONDO:0012454,MedGen:C2674838,OMIM:610251|Human_Phenotype_Ontology:HP:0030955,MONDO:MONDO:0007079,MedGen:C0001973,OMIM:103780|.	reviewed_by_expert_panel	drug_response	.	.	.	.	.	.	.	.	0	D	1.0	D	0.98	D	0.000	D	0.000	P	2.145	M	-1.13	T	-1.114	T	0.001	T	0.856	5.594	35	6.05	2.866	9.654	20.609	0.603	.	.	0.0357428	0.0213	0.0001	0.0011	0.2660	0	6.2e-05	0.0045	0.0002	0.0148122	2290	154602	rs671	0.0070	0.0070	0.0070	0.0069	0.2461	0.0068	0.0068	0.2420	0.2403	0.0001	0.0003	0	0.2461	3.771e-05	0.0002	3.607e-05	0.0059	0.0002	0.0078	0.0080	0.0067	0.0090	0.2249	0.0075	0.0073	0.2141	0.2098	0.0002	0	0.0009	0	0.2249	9.436e-05	0	2.94e-05	0.0047	0.0008	0.001	0.78490	D	0.018	0.59732	D	0.964	0.55854	D	0.9	0.63913	P	0.000000	0.84330	D	0.000000	1.51794e-07	0.58761	P	1.275	0.32135	L	-1.13	0.77719	T	-3.42	0.67589	D	0.48	0.51494	-1.1143	0.02725	T	0.001	0.00318	T	9	0.001886636	0.00026	T	.	.	.	0.603	0.84345	.	.	.	.	0.8914064971685514	0.89110	1.0029003514	0.74471	0.694746732712	0.66387	T	0.720783	0.92107	D	-0.10205	0.36085	T	0.224456	0.84397	D	0.101933660921122	0.12568	T	0.987751	0.95824	D	0.9531528	0.96586	0.9483129	0.98297	0.9531528	0.96587	0.9483129	0.98297	-11.753	0.85911	D	.	.	0.902	0.82877	P	.;.	.;.	5.371320	0.90048	31	0.99923974063030097	0.98917	0.99838	0.99773	D	AEFDBI	0.970794	0.99299	D	0.852133059192022	0.89230	9.886821	0.865479742025659	0.93886	12.351	0.999999999999567	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.05	6.05	0.98156	9.784000	0.98199	9.925000	0.82535	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.0:1.0:0.0	20.609	0.99471	331	0.86429	.;Aldehyde dehydrogenase domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	803.98	41	chr12	111803962	.	G	A	803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-03;DP=776;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.93;ReadPosRankSum=-3.240e-01;SOR=0.581	GT:AD:DP:GQ:PL	0/1:53,37:90:99:818,0,1312	20	0	1	0
chr12	115991196	115991196	G	A	exonic	MED13L	.	nonsynonymous SNV	MED13L:NM_015335:exon17:c.C3758T:p.T1253I,	Mental retardation and distinctive facial features with or without cardiac defects, Autosomal dominant;Transposition of the great arteries, dextro-looped 1, Autosomal dominant	.	0	1515	6	1	0	8	0.00263331	.	.	684296	Transposition_of_the_great_arteries,_dextro-looped|MED13L-related_disorder|not_provided	MONDO:MONDO:0012128,MedGen:C1837341,OMIM:608808,Orphanet:860|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.037	B	0.015	B	0.007	N	0.997	D	1.245	L	-0.84	T	-0.666	T	0.311	T	0.319	3.169	16.60	5.57	2.784	6.923	19.915	0.146	0.00612592146233	0.0004	0.000798722	0.0010	0	0.0006	0	0.0003	0.0010	0	0.0025	0.0008926	138	154602	rs148416895	0.0007	0.0007	0.0006	0.0008	0.0027	0.0006	0.0006	0.0024	0.0023	8.961e-05	0.0005	0.0080	0	1.872e-05	0.0026	0.0004	0.0014	0.0027	0.0006	0.0006	0.0006	0.0005	0.0025	0.0005	0.0004	0.0014	0.0011	0	0	0.0006	0.0078	0	0	0	0.0005	0.0005	0.0025	0.106	0.29688	T	0.158	0.31629	T	0.037	0.20876	B	0.015	0.17295	B	0.007259	0.31508	N	0.394228	0.997324	0.43798	D	0.755	0.19153	N	-0.84	0.74265	T	-1.32	0.32991	N	0.393	0.43417	-0.6662	0.62000	T	0.311	0.68175	T	10	0.007294178	0.00166	T	0.006126	0.16023	T	0.146	0.38789	.	.	0.228066490088	0.22430	0.23372975000366997	0.23287	0.651573886625	0.58386	0.488649129868	0.37250	T	0.044292	0.26771	T	-0.352281	0.04585	T	-0.282795	0.46517	T	0.0331141835950786	0.02490	T	0.89601	0.63722	D	0.049798757	0.08899	0.076509774	0.16951	0.0480852	0.08323	0.07949073	0.17898	-3.917	0.22557	T	0.1592602246679176	0.19352	0.106	0.19679	B	.;.	.;.	2.873096	0.37996	20.6	0.99432254145064325	0.64325	0.99106	0.91314	D	AEFBI	0.673394	0.63947	D	0.0772604476774236	0.45404	2.79746	0.251104425330985	0.52711	3.444226	0.999999999999976	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.356000	0.65817	7.450000	0.58952	0.618000	0.50648	0.915000	0.31815	0.999000	0.35428	0.997000	0.79791	0.0:0.0:1.0:0.0	19.915	0.97058	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2473.98	33	chr12	115991196	.	G	A	2473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=925;ExcessHet=0.0000;FS=9.865;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-3.550e-01;SOR=1.030	GT:AD:DP:GQ:PL	0/1:123,97:220:99:2488,0,3140	20	0	1	0
chr12	117539745	117539745	C	T	exonic	KSR2	.	nonsynonymous SNV	KSR2:NM_173598:exon10:c.G1661A:p.R554Q,	.	.	427	1065	29	1	0	31	0.0143452	.	.	718017	KSR2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.95	T	0.288	B	0.02	B	0.000	D	1.000	D	0.19	N	-1.15	T	-0.534	T	0.246	T	0.379	3.044	16.16	5.14	2.659	7.590	18.805	0.379	.	0.0091	0.00459265	0.0081	0.0010	0.0068	0.0001	0.0017	0.0105	0.0106	0.0099	0.0076196	1178	154602	rs56214831	0.0084	0.0084	0.0084	0.0084	0.0124	0.0083	0.0082	0.0100	0.0091	0.0012	0.0070	0.0277	7.683e-05	0.0020	0.0124	0.0087	0.0089	0.0092	0.0068	0.0068	0.0071	0.0066	0.0107	0.0065	0.0064	0.0093	0.0088	0.0014	0.0077	0.0107	0.0294	0.0002	0.0013	0.0170	0.0094	0.0057	0.0079	0.566	0.06543	T	0.442	0.13252	T	0.288	0.32258	B	0.02	0.19048	B	0.000024	0.55875	D	0.111526	0.999979	0.53665	D	0.94	0.23649	L	-1.15	0.77964	T	0.37	0.03639	N	0.522	0.56403	-0.5338	0.67397	T	0.246	0.61530	T	10	0.008792639	0.00199	T	.	.	.	0.379	0.69696	.	.	0.667463514677	0.66466	0.3097378868121771	0.30886	1.79226602558	0.91530	0.667781233788	0.62521	T	0.218811	0.58164	T	-0.311289	0.07636	T	-0.209533	0.53740	T	0.0413929799216951	0.03943	T	0.951405	0.81464	D	0.120452665	0.28344	0.1019575	0.24422	0.120452665	0.28344	0.1019575	0.24422	-2.924	0.09386	T	.	.	0.221	0.45124	B	.;.	.;.	3.739757	0.53540	23.4	0.99363970985552119	0.61155	0.99743	0.99133	D	AEFDBI	0.937285	0.93483	D	-0.0874001848480555	0.37944	2.214994	0.135401763960851	0.46374	2.884342	0.999999999610757	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	7.905000	0.86479	7.686000	0.65553	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.805	0.91998	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1741.98	34	chr12	117539745	.	C	T	1741.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.37;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=0.203;SOR=0.699	GT:AD:DP:GQ:PL	0/1:74,65:139:99:1756,0,1726	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	0/1:21,17:38:99:477,0,501	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	0/1:45,42,0:87:99:1549,0,1741,1685,1869,3553	13	1	4	0
chr12	121240525	121240525	-	TT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAA:p.G539Kfs*6,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/4:38,0,0,0,9,0:54:94:94,226,1167,226,1167,1167,226,1167,1167,1167,0,939,939,939,906,226,1167,1167,1167,939,1167	4	0	0	0
chr12	121240525	121240525	-	TTT	exonic	CAMKK2	.	nonframeshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAA:p.K538_G539insK,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/4:38,0,0,0,9,0:54:94:94,226,1167,226,1167,1167,226,1167,1167,1167,0,939,939,939,906,226,1167,1167,1167,939,1167	4	0	0	0
chr12	121240525	121240525	-	TTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAA:p.G539Kfs*4,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/4:38,0,0,0,9,0:54:94:94,226,1167,226,1167,1167,226,1167,1167,1167,0,939,939,939,906,226,1167,1167,1167,939,1167	4	0	0	0
chr12	121240525	121240525	-	TTTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAAA:p.G539Kfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/4:38,0,0,0,9,0:54:94:94,226,1167,226,1167,1167,226,1167,1167,1167,0,939,939,939,906,226,1167,1167,1167,939,1167	4	0	0	0
chr12	121779653	121779653	C	T	exonic	RHOF	.	nonsynonymous SNV	RHOF:NM_019034:exon5:c.G481A:p.A161T,	.	.	422	1084	15	1	0	17	0.00778032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.041	B	0.009	B	0.000	D	1.000	D	-0.18	N	-0.43	T	-0.935	T	0.065	T	0.07	2.943	15.81	4.07	0.979	0.495	8.108	0.128	.	0.0025	0.014377	0.0102	0.0012	0.0074	0.0233	0.0156	0.0046	0.0167	0.0305	0.0092431	1429	154602	rs34719836	0.0054	0.0054	0.0046	0.0062	0.0286	0.0053	0.0052	0.0276	0.0273	0.0014	0.0061	0.0345	0.0180	0.0144	0.0132	0.0018	0.0090	0.0286	0.0054	0.0054	0.0044	0.0065	0.0296	0.0051	0.0050	0.0257	0.0242	0.0011	0	0.0073	0.0265	0.0199	0.0151	0.0272	0.0021	0.0118	0.0296	0.267	0.16198	T	0.117	0.36365	T	0.041	0.21357	B	0.009	0.14300	B	0.000064	0.52346	D	0.130199	0.733097	0.81001	D	0.105	0.08473	N	-0.43	0.69657	T	-0.58	0.17417	N	0.031	0.14622	-0.9351	0.43379	T	0.065	0.27017	T	10	0.0039672554	0.00076	T	.	.	.	0.128	0.35103	.	.	.	.	0.5111428600780548	0.51036	0.251119777169	0.27690	0.389992594719	0.23669	T	0.117886	0.59509	T	-0.540859	0.00331	T	-0.52737	0.19550	T	0.0136014360657771	0.00252	T	0.60024	0.23960	T	0.03787948	0.04942	0.0666522	0.13684	0.03787948	0.04941	0.0666522	0.13683	-3.98	0.23503	T	.	.	0.166	0.36495	B	.;.;.	.;.;.	1.789484	0.22746	15.75	0.98776299459780836	0.46049	0.24544	0.22426	N	AEFDGBCI	0.057339	0.10672	N	-0.493553668647655	0.22291	1.189256	-0.335312879505817	0.26967	1.493189	0.99999977544347	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.655142	0.61905	0	.	.	5.02	4.07	0.46726	0.609000	0.23935	0.637000	0.20283	-0.171000	0.11205	0.221000	0.24547	0.146000	0.23136	0.892000	0.42986	0.0:0.7962:0.0:0.2038	8.108	0.30059	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	668.98	36	chr12	121779653	.	C	T	668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.072;DP=759;ExcessHet=0.0000;FS=3.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-1.480e+00;SOR=0.346	GT:AD:DP:GQ:PL	0/1:34,30:64:99:683,0,749	20	0	1	0
chr12	122867358	122867358	G	A	exonic	VPS37B	.	nonsynonymous SNV	VPS37B:NM_024667:exon4:c.C616T:p.R206C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.877	P	0.000	D	1.000	D	2.28	M	0.41	T	-0.543	T	0.289	T	0.798	2.504	14.33	4.54	1.270	4.743	13.289	0.309	0.116897473357	.	.	9.859e-06	0	0	0	0	1.839e-05	0	0	6.5e-06	1	154602	rs765772811	1.061e-05	1.437e-05	1.408e-05	7.109e-06	1.289e-05	6.37e-06	5.05e-06	7.48e-06	5.85e-06	0	0	0	0	0	0	1.289e-05	0	1.167e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.051	0.47828	T	1.0	0.90584	D	0.877	0.62241	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	0.41	0.57100	T	-2.92	0.63782	D	0.45	0.48780	-0.5429	0.67054	T	0.289	0.66094	T	10	0.43380514	0.57662	T	0.116897	0.79652	D	0.309	0.63055	0.248	0.18447	0.20808081866	0.20439	0.48077648969335846	0.47997	1.06096761696	0.76471	0.773575484753	0.77959	T	0.122664	0.44650	T	0.131701	0.67526	D	-0.048597	0.67118	D	0.949714839458466	0.63174	D	0.921608	0.71541	D	0.20123264	0.42127	0.12567632	0.30277	0.20123264	0.42127	0.12567632	0.30277	-4.299	0.28163	T	.	.	0.332	0.55390	B	.;.	.;.	4.728777	0.76146	26.5	0.99785931874657285	0.87219	0.94455	0.61221	D	AEFDBHCI	0.725793	0.67466	D	0.277813454145007	0.55024	3.666997	0.207482130056614	0.50264	3.220111	0.999999340409688	0.74766	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.636168	0.56350	0	.	.	5.44	4.54	0.55220	2.917000	0.48518	9.501000	0.80908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.414000	0.27095	0.0:0.0:0.7115:0.2885	13.289	0.59697	313	0.87327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	728.98	49	chr12	122867358	.	G	A	728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=845;ExcessHet=0.0000;FS=3.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=-6.360e-01;SOR=0.368	GT:AD:DP:GQ:PL	0/1:38,28:66:99:743,0,940	20	0	1	0
chr12	123744756	123744756	G	A	exonic	ATP6V0A2	.	nonsynonymous SNV	ATP6V0A2:NM_012463:exon12:c.G1486A:p.A496T,	Cutis laxa, autosomal recessive, type IIA, Autosomal recessive;Wrinkly skin syndrome, Autosomal recessive	.	0	1510	12	0	0	12	0.00395778	.	.	177270	not_specified|Cutis_laxa_with_osteodystrophy|ATP6V0A2-related_disorder|not_provided|Inborn_genetic_diseases|ALG9_congenital_disorder_of_glycosylation	MedGen:CN169374|MONDO:MONDO:0018163,MedGen:C0268355,OMIM:219200,Orphanet:357058|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.57	T	0.002	B	0.001	B	0.038	N	1.000	N	0.345	N	-1.85	D	-0.810	T	0.283	T	0.047	0.736	7.909	-4.18	-1.008	-0.362	0.471	0.079	0.041143854896	.	0.00159744	0.0013	0	0.0003	0.0001	0	0.0008	0.0033	0.0062	0.0011966	185	154602	rs143142641	0.0008	0.0008	0.0006	0.0010	0.0066	0.0007	0.0007	0.0062	0.0060	8.961e-05	0.0006	0.0014	0	0	0.0017	0.0004	0.0007	0.0066	0.0005	0.0005	0.0003	0.0007	0.0062	0.0004	0.0004	0.0045	0.0039	2.407e-05	0	0.0004	0.0014	0.0004	0	0	0.0005	0.0005	0.0062	0.518	0.07307	T	0.572	0.08746	T	0.002	0.09854	B	0.001	0.04355	B	0.037805	0.01839	N	2.173870	1	0.08975	N	0	0.06538	N	-1.85	0.84267	D	-0.14	0.09135	N	0.069	0.04188	-0.8099	0.54556	T	0.283	0.65458	T	10	0.013159156	0.00280	T	0.041144	0.59768	D	0.079	0.23065	.	.	0.225902525712	0.22197	0.45341008408235595	0.45259	0.155586269279	0.17559	0.221252664924	0.01383	T	0.14563	0.48284	T	-0.557043	0.00264	T	-0.571011	0.15357	T	0.0050169609138208	0.00054	T	0.441356	0.12220	T	0.016524712	0.00203	0.033193264	0.02174	0.013304375	0.00055	0.031012543	0.01631	-3.695	0.19244	T	.	.	0.065	0.01909	B	.	.	-0.149271	0.03360	0.596	0.70530275826382138	0.09326	0.13779	0.18047	N	AEFDBCI	0.045268	0.07385	N	-1.54998895494316	0.01535	0.06702592	-1.58266884174898	0.01761	0.08012034	0.0318883539184954	0.14026	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	-4.18	0.03584	-0.148000	0.10203	-1.039000	0.06521	-2.148000	0.00374	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3262:0.1989:0.2726:0.2024	0.471	0.00496	345	0.85689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2686.98	33	chr12	123744756	.	G	A	2686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.481;DP=927;ExcessHet=0.0000;FS=1.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-1.217e+00;SOR=0.677	GT:AD:DP:GQ:PL	0/1:94,103:197:99:2701,0,2340	20	0	1	0
chr12	123933349	123933349	A	G	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon76:c.A12961G:p.S4321G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.001	B	0.109	N	1.000	N	0.77	N	3.03	T	-0.966	T	0.015	T	0.067	0.090	4.483	-1.26	-0.233	0.795	11.324	0.037	0.00411626074775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.108642	0.19518	N	0.557794	1	0.08975	N	1.32	0.33002	L	.	.	.	.	.	.	.	.	-0.9664	0.37934	T	0.015	0.05801	T	10	0.11146429	0.20873	T	0.004116	0.09838	T	0.037	0.09474	0.358	0.36060	0.0401082797425	0.02173	0.2119901339902374	0.21115	0.132148160993	0.14894	0.334663689137	0.15637	T	0.00487	0.04291	T	-0.369421	0.03624	T	-0.768424	0.02820	T	0.266849130392075	0.23612	T	0.784022	0.42156	T	0.14749323	0.33716	0.11949873	0.28843	0.14749323	0.33716	0.11949873	0.28842	-4.82	0.34823	T	.	.	0.081	0.08224	B	.;.	.;.	0.481313	0.08509	5.269	0.59061093231786788	0.06136	0.07398	0.13417	N	AEFDBI	0.123140	0.23860	N	-0.949091606872654	0.09713	0.4609085	-0.941620939011787	0.11118	0.5644556	0.0236133115351312	0.13520	0.549168	0.22868	0	0.610034	0.51514	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.18	-1.26	0.08892	0.795000	0.26632	0.035000	0.13787	0.756000	0.94297	0.002000	0.15269	0.000000	0.08366	0.741000	0.35472	0.4906:0.0:0.5094:0.0	11.324	0.48675	754	0.51307	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1183.98	42	chr12	123933349	.	A	G	1183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.386;DP=834;ExcessHet=0.0000;FS=8.679;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-4.420e-01;SOR=0.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,35:97:99:0|1:123933342_C_T:1198,0,2449:123933342	20	0	1	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	0/1:28,23,0,0,0:51:99:880,0,1108,966,1177,2143,966,1177,2143,2143,966,1177,2143,2143,2143	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	0/1:28,23,0,0,0:51:99:880,0,1108,966,1177,2143,966,1177,2143,2143,966,1177,2143,2143,2143	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	0/1:28,23,0,0,0:51:99:880,0,1108,966,1177,2143,966,1177,2143,2143,966,1177,2143,2143,2143	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	0/1:28,23,0,0,0:51:99:880,0,1108,966,1177,2143,966,1177,2143,2143,966,1177,2143,2143,2143	0	1	2	0
chr12	130812996	130812996	T	C	exonic	STX2	.	nonsynonymous SNV	STX2:NM_001351049:exon4:c.A241G:p.I81V	.	.	796	723	3	0	0	3	0.00207039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.99	D	0.974	D	0.000	D	1.000	D	2.57	M	1.8	T	-0.892	T	0.156	T	0.307	4.100	21.1	4.26	1.916	4.633	12.655	0.131	0.00293128081234	0.0005	0.000399361	0.0007	0	0.0012	0	0	0.0008	0.0044	0.0007	0.0006209	96	154602	rs145834567	0.0004	0.0005	0.0004	0.0005	0.0069	0.0004	0.0004	0.0051	0.0045	3.341e-05	0.0010	0.0017	0	0	0.0069	0.0004	0.0007	0.0007	0.0011	0.0011	0.0011	0.0012	0.0008	0.0010	0.0009	0.0006	0.0006	4.808e-05	0.1077	0.0005	0.0017	0	0	0	0.0008	0	0.0002	0.043	0.41364	D	0.065	0.44702	T	0.99	0.63424	D	0.974	0.73157	D	0.000000	0.84330	D	0.000000	0.999954	0.52396	D	2.58	0.75369	M	1.8	0.25344	T	-0.88	0.24460	N	0.368	0.40963	-0.8920	0.48758	T	0.156	0.48790	T	10	0.009507805	0.00214	T	0.002931	0.06221	T	0.131	0.35738	.	.	0.748185691702	0.74591	0.22864905077774259	0.22779	0.280242865958	0.30504	0.608721494675	0.54134	T	0.114741	0.43279	T	-0.366277	0.03787	T	-0.386854	0.34921	T	0.114977251285718	0.13932	T	0.975769	0.91515	D	0.34274346	0.56497	0.26938286	0.52818	0.34274346	0.56497	0.26938286	0.52817	-5.256	0.39506	T	.	.	0.195	0.41813	B	.;.	.;.	3.468696	0.48378	22.6	0.99886996944704631	0.96204	0.94159	0.60291	D	AEFBI	0.479302	0.52150	N	0.595593572336126	0.72899	5.878889	0.53157682863693	0.70127	5.459584	0.999999978865839	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	4.26	4.26	0.49832	4.896000	0.62911	5.976000	0.52084	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.655	0.56145	895	0.25842	.;Syntaxin, N-terminal domain|Syntaxin, N-terminal domain|Syntaxin, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	371.98	33	chr12	130812996	.	T	C	371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.469;DP=630;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.54;ReadPosRankSum=0.652;SOR=0.519	GT:AD:DP:GQ:PL	0/1:22,17:39:99:386,0,509	20	0	1	0
chr12	132062526	132062526	-	GCA	exonic	EP400	.	nonframeshift insertion	EP400:NM_015409:exon47:c.8159_8160insGCA:p.Q2748_T2749insQ,	.	.	350	929	220	16	7	259	0.119431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4888.26	92	chr12	132062523	.	GGCA	GGCAGCA,G	4888.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.640e-01;DP=1498;ExcessHet=1.7912;FS=2.679;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=59.98;MQRankSum=0.00;QD=7.44;ReadPosRankSum=-6.150e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/2:84,0,39:123:99:1235,1487,4819,0,3332,3213	15	0	5	0
chr12	132062524	132062526	GCA	-	exonic	EP400	.	nonframeshift deletion	EP400:NM_015409:exon47:c.8157_8159del:p.Q2748del,	.	.	350	929	220	16	7	259	0.119431	.	.	3198656	EP400-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0695	.	0.0079	0.0062	0.0086	0.0139	0.0069	0.0074	0.0037	0.0077	0.0045336	118	26028	rs751944198	8.771e-05	0.0006	9.222e-05	8.317e-05	0.0004	7.501e-05	6.991e-05	0.0002	0.0002	0.0004	6.891e-05	0	7.673e-05	0.0001	0	7.45e-05	5.091e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0	0	0.0002	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4888.26	92	chr12	132062523	.	GGCA	GGCAGCA,G	4888.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.640e-01;DP=1498;ExcessHet=1.7912;FS=2.679;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=59.98;MQRankSum=0.00;QD=7.44;ReadPosRankSum=-6.150e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/2:84,0,39:123:99:1235,1487,4819,0,3332,3213	15	0	5	0
chr12	132148891	132149110	CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	-	exonic	NOC4L	.	frameshift deletion	NOC4L:NM_024078:exon9:c.897_901del:p.D299Efs*25,	.	.	422	945	57	36	62	191	0.063893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0042	0.0039	0.0041	0.0054	0.0037	0.0036	0.0045	0.0041	0.0042	0.0068	0.0054	0.0069	0.0014	0.0029	0.0072	0.0037	0.0095	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	21208.18	31	chr12	132148890	.	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,A,ACCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	21208.18	.	AC=13,7,1,1;AF=0.310,0.167,0.024,0.024;AN=42;BaseQRankSum=0.920;DP=1350;ExcessHet=3.4384;FS=1.805;InbreedingCoeff=-0.1455;MLEAC=13,7,1,1;MLEAF=0.310,0.167,0.024,0.024;MQ=59.50;MQRankSum=-2.060e-01;QD=21.38;ReadPosRankSum=-1.910e-01;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,27,0,0,0:44:99:0|1:132148890_ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC_A:801,0,482,852,564,1415,852,564,1415,1415,852,564,1415,1415,1415:132148890	4	2	6	0
chr13	21155150	21155150	-	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTA	exonic	SKA3	.	stopgain	SKA3:NM_001166017:exon8:c.1119_1120insTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.K374_R388del,	.	.	433	1072	3	0	14	17	0.0013973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0002	0.0005	0.0003	0.0003	0	0.0003	7.68e-05	2	26028	.	0.0008	0.0009	0.0004	0.0012	0.0033	0.0008	0.0008	0.0022	0.0018	0.0002	0.0005	0.0003	0.0018	0.0007	0.0033	0.0009	0.0009	0.0004	0.0005	0.0010	0.0003	0.0008	0.0017	0.0004	0.0004	0.0008	0.0006	0.0002	0	0.0008	0.0006	0.0002	0.0010	0	0.0006	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	659.05	34	chr13	21155150	.	T	TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTA,TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	659.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.61;DP=920;ExcessHet=0.1072;FS=11.162;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=4.67;ReadPosRankSum=-2.530e-01;SOR=1.561	GT:AD:DP:GQ:PL	0/2:52,0,14:66:99:425,583,2769,0,2186,2144	19	0	1	0
chr13	21155150	21155150	-	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	exonic	SKA3	.	stoploss	SKA3:NM_001166017:exon8:c.1119_1120insTGCCACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.K374Cfs*46	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0005	0.0006	0.0020	0	0.0009	0.0013	0.0003	.	.	.	.	1.987e-05	2.326e-05	2.181e-05	1.791e-05	2.522e-05	1.394e-05	1.205e-05	3e-07	1.1e-07	0	0	0	2.522e-05	0.0005	0	1.801e-06	0	0	0.0012	0.0022	0.0009	0.0015	0.0037	0.0011	0.0010	0.0024	0.0020	0.0005	0	0.0017	0.0012	0.0019	0.0025	0	0.0011	0.0038	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	659.05	34	chr13	21155150	.	T	TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTA,TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	659.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.61;DP=920;ExcessHet=0.1072;FS=11.162;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=4.67;ReadPosRankSum=-2.530e-01;SOR=1.561	GT:AD:DP:GQ:PL	0/2:52,0,14:66:99:425,583,2769,0,2186,2144	19	0	1	0
chr13	21159988	21159988	-	ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA	splicing	SKA3	NM_145061:exon6:c.830-1->TCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT;NM_001166017:exon6:c.830-1->TCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0003	0.0003	0.0002	0.0005	0.0019	0.0003	0.0003	0.0011	0.0008	3.125e-05	9.925e-05	0.0002	0.0007	0.0005	0.0019	0.0003	0.0002	0.0002	7.913e-05	0.0002	9.03e-05	6.744e-05	0.0002	4.511e-05	3.524e-05	7.94e-05	6.017e-05	0	0	0	0	0.0002	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4035.12	33	chr13	21159988	.	C	CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA,CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	4035.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=3.98;DP=1193;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-1.630e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/2:65,0,35:100:99:1257,1458,4155,0,2697,2592	17	0	1	0
chr13	21159988	21159988	-	ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	splicing	SKA3	NM_145061:exon6:c.830-1->CAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT;NM_001166017:exon6:c.830-1->CAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT	.	.	.	.	437	1077	1	0	7	8	0.000464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0009	0.0005	0.0013	0.0016	0.0009	0.0009	0.0013	0.0012	0.0001	0.0004	0.0002	0.0016	0.0036	0.0011	0.0009	0.0009	0.0006	9.245e-05	0.0006	5.162e-05	0.0001	0.0004	5.554e-05	4.386e-05	6.934e-05	5.109e-05	2.419e-05	0	6.588e-05	0	0.0004	9.537e-05	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4035.12	33	chr13	21159988	.	C	CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA,CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	4035.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=3.98;DP=1193;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-1.630e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/2:65,0,35:100:99:1257,1458,4155,0,2697,2592	17	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|1:223,29,0:252:99:0|1:25097005_A_G:546,0,9275,1218,9362,10580:25097005	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|2:223,0,29:252:99:0|1:25097005_A_G:546,1218,10580,0,9362,9275:25097005	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|2:223,0,29:252:99:0|1:25097005_A_G:546,1218,10580,0,9362,9275:25097005	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|1:215,30,0:245:99:0|1:25097005_A_G:613,0,8831,1260,8921,10181:25097005	4	0	16	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	0/1:97,60:167:99:311,0,1581	6	0	15	0
chr13	42303096	42303096	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4350C:p.E1450D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.046	B	0.04	B	0.002	N	1.000	N	2.215	M	0.63	T	-1.000	T	0.101	T	0.137	-0.356	2.320	-3.37	-0.634	-0.442	4.234	0.043	0.0317518443811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	0.046	0.21875	B	0.04	0.23831	B	0.002236	0.36970	N	0.258788	0.999802	0.20292	N	2.35	0.67516	M	0.63	0.53088	T	-0.98	0.25986	N	0.158	0.16447	-0.9998	0.29973	T	0.101	0.37443	T	10	0.07147744	0.10542	T	0.031752	0.53753	D	0.043	0.11576	0.193	0.10437	0.387475297304	0.38358	0.24412387893795467	0.24326	0.0536418645846	0.05925	0.276347875595	0.06989	T	0.015482	0.12979	T	-0.216966	0.18409	T	-0.549433	0.17381	T	0.154120936989784	0.17427	T	0.60444	0.22695	T	0.070583634	0.15560	0.053213075	0.08918	0.070583634	0.15559	0.053213075	0.08918	-3.609	0.17987	T	.	.	0.104	0.18705	B	.	.	-0.436613	0.02079	0.193	0.89464399913280646	0.18819	0.23250	0.22015	N	AEFBCI	0.138667	0.26003	N	-1.04216664049654	0.07742	0.3606713	-1.15099279227403	0.06750	0.3259806	0.997690503067831	0.35915	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-3.37	0.04591	-0.421000	0.07118	0.185000	0.15676	-0.113000	0.14837	0.000000	0.06391	0.001000	0.17328	0.020000	0.11549	0.4718:0.0967:0.3341:0.0974	4.234	0.10068	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	0.04762	342.11	35	chr13	42303096	.	G	C	342.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.322e+00;DP=1730;ExcessHet=0.1072;FS=154.189;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=1.50;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,9:118:99:.:.:107,0,4102	19	0	2	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	0/1:106,24:130:99:.:.:195,0,3632	0	0	20	1
chr13	46553473	46553473	-	CCA	exonic	LRCH1	.	nonframeshift insertion	LRCH1:NM_001164211:exon1:c.77_78insCCA:p.H33_Q34insH	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.00439297	0.0011	0.0065	0.0072	0.0062	0	0	0	0	0.0011526	30	26028	rs533543595	0.0005	0.0005	0.0005	0.0004	0.0115	0.0004	0.0004	0.0105	0.0102	0.0115	0.0008	0	0.0029	0	0.0005	7.703e-05	0.0012	5.055e-05	0.0032	0.0033	0.0032	0.0032	0.0104	0.0030	0.0029	0.0096	0.0093	0.0104	0	0.0017	0	0.0027	0	0	0.0001	0.0043	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1097.94	34	chr13	46553473	.	C	CCCA	1097.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.910e-01;DP=768;ExcessHet=0.0000;FS=2.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.41;ReadPosRankSum=1.93;SOR=0.358	GT:AD:DP:GQ:PL	0/1:21,28:49:99:1112,0,797	20	0	1	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P,	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.42	M	-3.77	D	1.097	D	0.943	D	0.995	4.463	23.8	5.48	2.086	7.698	15.564	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2619	1269.87	115	chr13	48459808	.	T	C	1269.87	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-3.482e+00;DP=2175;ExcessHet=7.7275;FS=135.304;InbreedingCoeff=-0.3657;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=0.91;ReadPosRankSum=0.896;SOR=12.258	GT:AD:DP:GQ:PL	0/1:102,29:131:47:47,0,1881	10	0	11	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.995	D	0.000	D	0.987	D	3.165	M	-0.39	T	0.346	D	0.580	D	0.608	3.858	19.60	5.08	2.520	4.058	18.834	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	1218.29	151	chr13	69882456	.	G	A	1218.29	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-2.253e+00;DP=2755;ExcessHet=17.4423;FS=173.681;InbreedingCoeff=-0.5810;MLEAC=15;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.201;SOR=13.428	GT:AD:DP:GQ:PL	0/1:72,46:118:99:198,0,953	5	0	15	1
chr13	71866535	71866535	-	GCCGCC	exonic	DACH1	.	nonframeshift insertion	DACH1:NM_001366712:exon1:c.234_235insGGCGGC:p.G81_S82insGG	.	.	6	167	15	3	35	56	0.0591549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3245.31	39	chr13	71866526	.	TGCCGCCGCC	T,TGCCGCCGCCGCCGCC	3245.31	.	AC=2,5;AF=0.048,0.119;AN=42;BaseQRankSum=0.433;DP=629;ExcessHet=0.2785;FS=2.709;InbreedingCoeff=0.1429;MLEAC=2,5;MLEAF=0.048,0.119;MQ=60.00;MQRankSum=0.00;QD=18.65;ReadPosRankSum=0.142;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:13,0,13:26:99:.:.:466,505,1011,0,506,467	15	0	2	0
chr13	75326228	75326228	G	C	exonic	TBC1D4	.	nonsynonymous SNV	TBC1D4:NM_001286658:exon10:c.C2002G:p.L668V	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.996	D	0.007	N	1.000	D	1.7	L	0.65	T	-0.896	T	0.202	T	0.225	1.438	10.75	1.84	0.097	3.951	7.865	0.151	0.0289985838194	.	.	2.49e-05	0	0	0	0	1.5e-05	0	0.0001	1.94e-05	3	154602	rs759763499	1.573e-05	1.573e-05	1.089e-05	2.063e-05	0.0003	1.048e-05	8.75e-06	0.0001	9.45e-05	0	0	0	0	0	0.0003	0	8.279e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.40319	T	0.036	0.52060	D	0.729	0.90584	P	0.623	0.84481	P	0.007292	0.31484	N	0.147378	0.999994	0.58761	D	2.05	0.56469	M	0.65	0.52642	T	-1.2	0.30964	N	0.505	0.53708	-0.8962	0.48370	T	0.202	0.55947	T	10	0.16101041	0.30213	T	0.028999	0.51584	D	0.151	0.39764	0.246	0.18139	0.655285266991	0.65241	0.5710197310555528	0.57029	1.09284184008	0.77491	0.512019395828	0.40505	T	0.08623	0.37901	T	-0.33773	0.05547	T	-0.430753	0.29849	T	0.287652403116226	0.24491	T	0.918208	0.71813	D	0.088550374	0.20660	0.06473003	0.13016	0.088550374	0.20660	0.06473003	0.13015	-7.72	0.59147	D	.	.	0.070	0.11749	B	.;.;.;.;.	.;.;.;.;.	3.215418	0.43783	21.8	0.98683902803236379	0.44652	0.85521	0.44662	D	ALL	0.275743	0.39063	N	-0.200692022945938	0.33104	1.874508	-0.296338441914409	0.28219	1.571653	0.999999877907866	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.657601	0.63696	0	.	.	5.48	1.84	0.24348	3.364000	0.52052	4.571000	0.43881	-0.633000	0.04490	0.998000	0.41325	1.000000	0.68203	0.307000	0.24666	0.1855:0.1165:0.6981:0.0	7.865	0.28693	966	0.07191	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1688.98	34	chr13	75326228	.	G	C	1688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.928e+00;DP=795;ExcessHet=0.0000;FS=1.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.50;ReadPosRankSum=2.20;SOR=0.513	GT:AD:DP:GQ:PL	0/1:45,64:109:99:1703,0,1200	20	0	1	0
chr13	85794314	85794314	C	T	exonic	SLITRK6	.	nonsynonymous SNV	SLITRK6:NM_032229:exon2:c.G2195A:p.G732E,	Deafness and myopia, Autosomal recessive	.	420	1096	6	0	0	6	0.00272975	.	.	504604	SLITRK6-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.09	B	0.038	B	0.002	U	0.999	D	0.345	N	0.53	T	-1.094	T	0.063	T	0.348	1.998	12.64	4.13	0.822	5.551	11.720	0.061	0.00989627189309	0.0073	0.00199681	0.0048	0.0019	0.0018	0	0.0050	0.0073	0.0078	0.0008	0.0048188	745	154602	rs74591375	0.0071	0.0071	0.0074	0.0069	0.0085	0.0070	0.0070	0.0084	0.0083	0.0025	0.0026	0.0021	0	0.0045	0.0036	0.0085	0.0057	0.0010	0.0054	0.0054	0.0058	0.0050	0.0084	0.0051	0.0050	0.0078	0.0076	0.0032	0	0.0034	0.0014	0	0.0041	0.0171	0.0084	0.0066	0.0008	0.588	0.05844	T	1.0	0.01155	T	0.09	0.25173	B	0.038	0.23361	B	0.001593	0.38554	U	0.169822	0.998573	0.45107	D	1.735	0.44892	L	0.53	0.55090	T	-0.03	0.07444	N	0.342	0.38335	-1.0938	0.04929	T	0.063	0.26279	T	10	0.007871985	0.00179	T	0.009896	0.25788	T	0.061	0.17616	.	.	0.734331791237	0.73196	0.12945554590267244	0.12870	0.0591815698512	0.06573	0.599845409393	0.52882	T	0.077565	0.35685	T	-0.417704	0.01770	T	-0.359805	0.38076	T	0.0185077129968375	0.00566	T	0.861714	0.55578	D	0.07820364	0.17795	0.11474935	0.27700	0.09180066	0.21519	0.11538226	0.27852	-2.862	0.08769	T	.	.	0.127	0.26978	B	.;.;.	.;.;.	3.727571	0.53306	23.3	0.98396764371508483	0.41020	0.96848	0.71267	D	AEFBI	0.799694	0.72588	D	-0.261908228998192	0.30631	1.709741	-0.0815979451378133	0.36151	2.100223	0.995934296147342	0.34418	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.84	4.13	0.47661	5.627000	0.67460	4.925000	0.46078	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.8728:0.0:0.1272	11.720	0.50940	973	0.05605	.;.;.	.	.	.	.	.	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	1705.98	34	chr13	85794314	.	C	T	1705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-1.820e-01;SOR=0.689	GT:AD:DP:GQ:PL	0/1:92,65:157:99:1720,0,2488	20	0	1	0
chr13	95633288	95633288	C	A	exonic	DZIP1	.	nonsynonymous SNV	DZIP1:NM_014934:exon6:c.G631T:p.A211S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.778	P	0.28	B	0.000	D	0.943	N	-0.075	N	0.89	T	-1.058	T	0.046	T	0.099	2.149	13.14	5.08	2.530	3.459	12.115	0.170	0.00223617204554	.	.	0.0002	0	0.0011	0	0	9.043e-05	0.0011	0	0.0001294	20	154602	rs750389191	3.831e-05	3.831e-05	4.22e-05	3.438e-05	0.0014	3.025e-05	2.719e-05	0.0007	0.0005	0	0.0005	0	0	0	0.0014	1.529e-05	0.0001	0	1.97e-05	1.969e-05	2.57e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.542e-05	0	0.0002	0	0	0	0.0005	0	0.787	0.05668	T	0.844	0.03569	T	0.778	0.44187	P	0.28	0.40294	B	0.000032	0.55875	D	0.160014	0.942852	0.26738	N	0.755	0.19153	N	0.89	0.45636	T	0.21	0.05035	N	0.145	0.15187	-1.0576	0.12362	T	0.046	0.19800	T	10	0.089390576	0.15480	T	0.002236	0.04233	T	0.170	0.43303	0.487	0.57098	0.666050317778	0.66323	0.08021744628669977	0.07956	0.139580379967	0.15735	0.442376255989	0.30902	T	0.031526	0.22080	T	-0.451359	0.01109	T	-0.575604	0.14939	T	0.0614076852798462	0.07389	T	0.778122	0.41194	T	0.08482213	0.19650	0.07145539	0.15304	0.08482213	0.19650	0.07145539	0.15303	-2.027	0.03284	T	.	.	0.138	0.30476	B	.;.;.;.	.;.;.;.	2.753311	0.36096	20.2	0.99299474979176294	0.58577	0.76982	0.37802	D	AEFBI	0.171169	0.29812	N	-0.0982473225363523	0.37468	2.180326	0.0876847057015311	0.43928	2.684497	0.999169216325452	0.38622	0.732398	0.92422	0	0.659912	0.62753	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	3.496000	0.53050	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2894:0.7106:0.0:0.0	12.115	0.53162	858	0.34001	.;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	0	0	0	0	0.02381	1099.98	33	chr13	95633288	.	C	A	1099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.742;DP=785;ExcessHet=0.0000;FS=1.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=0.067;SOR=0.990	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1114,0,1020	20	0	1	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	1289.7	107	chr13	102737670	.	C	G	1289.7	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-5.420e+00;DP=3587;ExcessHet=6.1002;FS=265.418;InbreedingCoeff=-0.4269;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=1.50;SOR=12.784	GT:AD:DP:GQ:PL	0/1:116,40:156:99:254,0,2632	6	0	10	5
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	1299.96	159	chr13	102738219	.	C	G	1299.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-5.434e+00;DP=4225;ExcessHet=6.1002;FS=289.047;InbreedingCoeff=-0.4256;MLEAC=12;MLEAF=0.333;MQ=59.99;MQRankSum=0.00;QD=0.69;ReadPosRankSum=2.11;SOR=11.733	GT:AD:DP:GQ:PL	0/1:153,49:220:99:159,0,3668	8	0	10	3
chr13	109141245	109141245	C	A	exonic	MYO16	.	nonsynonymous SNV	MYO16:NM_001198950:exon32:c.C5033A:p.P1678H	.	.	425	1093	4	0	0	4	0.00182648	.	.	3211092	MYO16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.8	P	0.436	B	0.386	U	1.000	D	1.245	L	0.14	T	-1.125	T	0.018	T	0.079	3.238	16.86	4.07	2.275	5.335	11.752	0.193	.	0.0004	0.0211661	0.0102	0.0020	0.0417	0.0654	0.0059	0.0004	0.0040	0.0023	0.0089585	1385	154602	rs116870463	0.0037	0.0038	0.0040	0.0035	0.0678	0.0036	0.0036	0.0657	0.0648	0.0011	0.0424	0.0001	0.0678	0.0055	0.0016	9.743e-05	0.0047	0.0024	0.0071	0.0072	0.0059	0.0084	0.0728	0.0068	0.0066	0.0667	0.0644	0.0017	0	0.0349	0	0.0728	0.0062	0	0.0002	0.0061	0.0023	0.001	0.78490	D	0.004	0.74150	D	0.8	0.44988	P	0.436	0.45556	B	0.386079	0.13321	U	0.608816	1	0.08975	N	1.59	0.40313	L	0.14	0.60854	T	-1.7	0.40468	N	0.098	0.12770	-1.1245	0.02065	T	0.018	0.07565	T	9	0.0019471645	0.00027	T	.	.	.	0.193	0.47281	.	.	.	.	0.04993532709084997	0.04936	1.30891436969	0.83166	0.395048320293	0.24378	T	0.007046	0.17018	T	-0.544484	0.00315	T	-0.49571	0.22793	T	0.0513821160435711	0.05741	T	.	.	.	0.13216352	0.30783	0.22196105	0.47024	0.14883794	0.33960	0.22196105	0.47023	-5.629	0.43057	T	0.18133802164678425	0.23377	0.121	0.30238	B	.;.;.	.;.;.	2.926884	0.38873	20.8	0.99179443557318525	0.54643	0.97463	0.74912	D	AEFDBI	0.523063	0.54682	D	-0.0200675543879008	0.40947	2.440652	-0.068258345123062	0.36710	2.139921	0.999999998571309	0.74766	0.59774	0.34471	0	0.657636	0.61667	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.93	4.07	0.46726	5.439000	0.66307	0.323000	0.17205	0.545000	0.25583	0.961000	0.33663	0.001000	0.17328	0.003000	0.05239	0.0:0.915:0.0:0.085	11.752	0.51119	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	877.98	79	chr13	109141245	.	C	A	877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.870e-01;DP=1563;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-1.632e+00;SOR=0.598	GT:AD:DP:GQ:PL	0/1:42,37:79:99:892,0,1111	20	0	1	0
chr13	112547518	112547547	CGCGCGTGGGAAAGACGTGCATGGGAAAGT	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1241_1270del:p.D414_R423del,	.	.	440	1071	10	1	0	12	0.00557103	.	.	2814050	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0063	0.0010	0.0011	0.0036	0.0018	0	0.0096	3.84e-05	1	26028	rs1464179058	0.0017	0.0016	0.0017	0.0017	0.0064	0.0016	0.0016	0.0058	0.0055	0.0022	0.0007	0.0001	9.457e-05	0.0026	0.0058	0.0015	0.0028	0.0064	0.0020	0.0020	0.0017	0.0024	0.0050	0.0018	0.0018	0.0034	0.0029	0.0024	0	0.0021	0	0.0008	0.0038	0.0034	0.0015	0.0033	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3710.94	193	chr13	112547517	.	ACGCGCGTGGGAAAGACGTGCATGGGAAAGT	A	3710.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=2485;ExcessHet=0.0000;FS=4.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.20;ReadPosRankSum=-2.970e-01;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,104:229:99:0|1:112547505_C_T:3725,0,4615:112547505	20	0	1	0
chr13	112547532	112547547	ACGTGCATGGGAAAGT	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	22922.08	213	chr13	112547532	.	ACGTGCATGGGAAAGT	A,*	22922.08	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=0.389;DP=2588;ExcessHet=2.5830;FS=1.106;InbreedingCoeff=-0.2000;MLEAC=6,1;MLEAF=0.143,0.024;MQ=59.97;MQRankSum=0.00;QD=14.52;ReadPosRankSum=0.139;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:125,0,104:229:99:0|1:112547505_C_T:3725,4101,9029,0,4928,4615:112547505	14	0	6	0
chr13	112547554	112547568	TGGGAAAGTCGCGCG	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1220_1234del:p.T412_P416del,	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:125,0,0,0,104,0:229:99:0|1:112547505_C_T:3725,4101,9029,4101,9029,9029,4101,9029,9029,9029,0,4928,4928,4928,4615,4101,9029,9029,9029,4928,9029:112547505	7	0	5	0
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:125,0,0,0,104,0:229:99:0|1:112547505_C_T:3725,4101,9029,4101,9029,9029,4101,9029,9029,9029,0,4928,4928,4928,4615,4101,9029,9029,9029,4928,9029:112547505	7	0	5	0
chr13	112547568	112547568	-	TGGGAAAGTCGCGCG	exonic	TUBGCP3	.	nonframeshift insertion	TUBGCP3:NM_001286279:exon10:c.1219_1220insCGCGCGACTTTCCCA:p.P416_M417insTRDFP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:125,0,0,0,104,0:229:99:0|1:112547505_C_T:3725,4101,9029,4101,9029,9029,4101,9029,9029,9029,0,4928,4928,4928,4615,4101,9029,9029,9029,4928,9029:112547505	7	0	5	0
chr13	112547565	112547565	C	0	exonic	TUBGCP3	.	.	.	.	.	443	851	116	13	99	241	0.0770065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	24873.61	185	chr13	112547565	.	C	T,*	24873.61	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.983;DP=2360;ExcessHet=3.5521;FS=1.103;InbreedingCoeff=-0.2353;MLEAC=7,1;MLEAF=0.167,0.024;MQ=59.97;MQRankSum=0.00;QD=16.56;ReadPosRankSum=-7.970e-01;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,98,0:188:99:0|1:112547505_C_T:3652,0,3325,3923,3622,7545:112547505	13	0	7	0
chr13	113404039	113404039	G	0	exonic	LOC101928841	.	.	.	.	.	897	593	26	2	4	34	0.0246711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	3720.46	37	chr13	113404039	.	G	A,*	3720.46	.	AC=2,2;AF=0.048,0.048;AN=42;BaseQRankSum=-2.469e+00;DP=3657;ExcessHet=0.6776;FS=0.537;InbreedingCoeff=-0.1053;MLEAC=2,2;MLEAF=0.048,0.048;MQ=58.82;MQRankSum=-5.980e-01;QD=2.30;ReadPosRankSum=1.26;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,95,0:325:99:0|1:113404039_G_A:1656,0,5991,2342,6271,8613:113404039	17	0	2	0
chr13	113404152	113404152	C	0	exonic	LOC101928841	.	.	.	.	.	74	109	6	10	27	53	0.106557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	13067.7	97	chr13	113404152	.	C	T,*	13067.7	.	AC=18,3;AF=0.500,0.083;AN=36;BaseQRankSum=1.82;DP=1904;ExcessHet=0.0725;FS=0.000;InbreedingCoeff=0.1863;MLEAC=20,3;MLEAF=0.556,0.083;MQ=55.13;MQRankSum=-6.490e-01;QD=9.73;ReadPosRankSum=-4.236e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,19,0:19:55:1|1:113404039_G_A:706,55,0,706,55,706:113404039	4	5	6	3
chr14	20435525	20435525	G	-	exonic	KLHL33	.	frameshift deletion	KLHL33:NM_001365790:exon2:c.287delC:p.P96Rfs*34,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	149.4	10	chr14	20435524	.	CG	C	149.4	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=205;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0493;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.67;ReadPosRankSum=1.29;SOR=0.582	GT:AD:DP:GQ:PL	0/1:3,5:8:88:163,0,88	20	0	1	0
chr14	23101429	23101429	G	T	exonic	LMLN2	.	nonsynonymous SNV	LMLN2:NM_001354640:exon13:c.C1612A:p.P538T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16066426	0.30157	T	.	.	.	.	.	.	.	.	.	0.13372577843733077	0.13296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384162	0.09403	T	0.12466957	0.29245	0.21152586	0.45585	0.12466957	0.29244	0.21152586	0.45584	-4.355	0.28941	T	.	.	0.075	0.05535	B	.;.	.;.	2.066697	0.26282	17.06	0.60911711600687635	0.06579	0.56326	0.30088	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999943124698134	0.47345	0.074388	0.01536	0	0.060609	0.00678	0	0.091713	0.02954	0	0.058706	0.01089	0	0.148253	0.27256	4.9	0.577	0.16569	0.976000	0.29059	3.043000	0.36089	0.676000	0.76740	0.868000	0.30757	0.940000	0.28757	0.366000	0.26021	0.2761:0.1608:0.5631:0.0	4.624	0.11853	889	0.27310	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	32.85	57	chr14	23101429	.	G	T	32.85	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-9.670e-01;DP=57;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1540;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-9.670e-01;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	11	0	1	9
chr14	24143672	24143672	C	A	splicing	PSME2	NM_002818:exon10:c.553-1G>T	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.95	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.531	18.02	4.84	2.680	5.801	13.618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43696	0.91876	D	0.389887	0.91775	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.133274	0.61874	24.4	0.99471592993268099	0.66365	0.98068	0.79327	D	AEFDBIJ	.	.	.	1.08724664359533	0.97891	16.97304	0.920777600714814	0.96416	14.67008	0.999999999967731	0.74766	0.163922	0.03765	0	0.177374	0.04040	0	0.231597	0.04857	0	0.117559	0.03655	0	0.985519	0.93241	4.84	4.84	0.62125	5.776000	0.68576	7.691000	0.65788	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:1.0:0.0:0.0	13.618	0.61590	892	0.26670	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1945.98	36	chr14	24143672	.	C	A	1945.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.330e-01;DP=867;ExcessHet=0.0000;FS=1.205;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.988;QD=11.58;ReadPosRankSum=-1.565e+00;SOR=0.659	GT:AD:DP:GQ:PL	0/1:86,82:168:99:1960,0,2123	20	0	1	0
chr14	35870416	35870416	G	A	exonic	BRMS1L	.	nonsynonymous SNV	BRMS1L:NM_032352:exon10:c.G911A:p.S304N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.421	B	0.143	B	0.000	D	1.000	D	1.905	M	.	.	-0.640	T	0.253	T	0.41	2.633	14.76	5.86	2.776	7.119	20.202	0.206	0.00392158159419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.909e-07	6.16e-06	0	1.388e-06	3.036e-05	0	0	.	.	3.036e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.026	0.55759	D	0.421	0.35387	B	0.143	0.33763	B	0.000000	0.84330	D	0.111584	0.999995	0.58761	D	2.34	0.67151	M	.	.	.	-0.86	0.23372	N	0.351	0.39254	-0.6397	0.63158	T	0.253	0.62292	T	9	0.2619985	0.43664	T	0.003922	0.09242	T	0.206	0.49396	0.161	0.06507	0.43965937752	0.43585	0.547906895027508	0.54716	0.709260744387	0.61606	0.779643476009	0.78874	T	0.032588	0.22553	T	0.0293815	0.55641	T	-0.195572	0.55065	T	0.777600944042206	0.44900	D	0.785321	0.42297	T	0.2596511	0.49019	0.2739856	0.53323	0.2596511	0.49019	0.2739856	0.53322	-5.633	0.43093	T	.	.	0.317	0.54257	B	.	.	3.479125	0.48577	22.6	0.98770389585321949	0.45955	0.96420	0.69051	D	AEFGI	0.807404	0.73145	D	0.410616452888844	0.62004	4.409637	0.540354922838467	0.70728	5.548182	0.999998355966963	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	7.140000	0.76912	11.907000	0.99503	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.202	0.98265	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	0.03125	39.13	90	chr14	35870416	.	G	A	39.13	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-3.063e+00;DP=2030;ExcessHet=0.0000;FS=208.044;InbreedingCoeff=-0.0972;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=-8.660e-01;SOR=10.112	GT:AD:DP:GQ:PL	0/1:60,27:108:43:43,0,835	15	0	1	5
chr14	39247322	39247322	T	C	exonic	MIA2	.	nonsynonymous SNV	MIA2:NM_001329214:exon4:c.T748C:p.S250P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.963	D	0.696	P	0.063	N	1.000	N	2.045	M	2.98	T	-0.932	T	0.171	T	0.508	1.897	12.30	3.22	0.388	1.931	5.826	0.125	0.0180242904035	0.0004	0.000199681	0.0003	9.654e-05	0.0002	0	0.0002	0.0004	0	0.0001	0.0003169	49	154602	rs150000006	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0	8.949e-05	0	0	0.0001	0	0.0003	0.0002	9.276e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	9.626e-05	0	6.54e-05	0	0	9.42e-05	0	0.0004	0	0	0.005	0.68238	D	0.007	0.69154	D	0.963	0.55692	D	0.696	0.54017	P	0.062785	0.22072	N	0.234402	0.999961	0.18878	N	2.34	0.67151	M	2.98	0.52187	T	-1.38	0.58248	N	0.391	0.45331	-0.9320	0.43844	T	0.171	0.51197	T	9	0.07811263	0.12410	T	0.018024	0.39939	T	0.125	0.34456	.	.	0.667875860975	0.66507	0.07185426951506377	0.07122	0.159575760648	0.18006	0.290090382099	0.08935	T	0.170857	0.51876	T	-0.292187	0.09417	T	-0.325418	0.41978	T	0.103766178126393	0.12766	T	0.679332	0.28809	T	0.10668909	0.25228	0.21922196	0.46654	0.10668909	0.25228	0.21922196	0.46653	-4.394	0.31045	T	.	.	0.099	0.25331	B	.;.;.	.;.;.	2.360458	0.30275	18.39	0.99556822214461937	0.71521	0.68907	0.33981	D	AEFDGBIJ	0.558799	0.56787	D	-0.0490550108068739	0.39644	2.341261	-0.0958735666911628	0.35561	2.05879	0.999971675423615	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	5.66	3.22	0.36041	1.985000	0.40289	0.887000	0.22442	-0.693000	0.04107	0.999000	0.42656	0.803000	0.26967	0.240000	0.23001	0.2668:0.0:0.2334:0.4999	5.826	0.17810	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1236.98	42	chr14	39247322	.	T	C	1236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.006e+00;DP=915;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-7.630e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1251,0,1607	20	0	1	0
chr14	58138194	58138194	A	G	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon2:c.T1165C:p.S389P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.989	D	0.885	P	0.214	N	1.000	N	1.735	L	1.68	T	-1.054	T	0.102	T	0.699	3.193	16.69	2.08	0.107	0.322	7.430	0.182	0.00991569293664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.003	0.76473	D	0.989	0.62824	D	0.885	0.62825	P	0.214351	0.16289	N	0.566984	1	0.08975	N	.	.	.	1.68	0.27184	T	-2.49	0.54217	N	0.17	0.18103	-1.0535	0.13440	T	0.102	0.37568	T	10	0.1590898	0.29900	T	0.009916	0.25833	T	0.182	0.45420	0.374	0.38667	0.0666544352282	0.05500	0.13696643335137432	0.13620	0.121842658127	0.13733	.	.	.	0.025561	0.19086	T	-0.0273703	0.47799	T	-0.277092	0.47102	T	0.522264003753662	0.33449	D	0.49655	0.15423	T	0.24250986	0.47179	0.2958181	0.55614	0.24250986	0.47179	0.2958181	0.55613	-4.12	0.25584	T	.	.	0.088	0.11749	B	.	.	1.334307	0.17401	13.14	0.99607788779664785	0.74634	0.04756	0.10462	N	AEFGBCI	0.103078	0.20660	N	-0.222407257448638	0.32215	1.814444	-0.420636230168889	0.24392	1.335448	0.999940150298763	0.47345	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.86	2.08	0.26079	0.156000	0.16200	1.252000	0.25176	0.751000	0.87719	0.001000	0.13787	0.087000	0.22477	0.167000	0.20881	0.4904:0.4346:0.075:0.0	7.430	0.26296	875	0.30485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	321.68	35	chr14	58138194	.	A	G	321.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.825e+00;DP=1819;ExcessHet=0.3300;FS=107.760;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=1.27;SOR=8.424	GT:AD:DP:GQ:PL	0/1:129,32:161:99:191,0,3113	18	0	3	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	0/1:40,20:60:99:196,0,699	0	0	21	0
chr14	61738101	61738101	G	T	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon10:c.G1336T:p.D446Y	.	YES	453	1050	15	4	0	23	0.0108337	.	.	714184	not_provided|Enchondromatosis	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.592	P	0.285	B	0.897	N	0.999	D	0.805	L	0.72	T	-1.042	T	0.088	T	0.513	2.656	14.84	5.41	2.699	4.941	12.867	0.120	.	0.0025	0.00339457	0.0042	0.0010	0.0052	0.0005	0.0003	0.0029	0.0059	0.0176	0.0038292	592	154602	rs149348765	0.0031	0.0031	0.0027	0.0035	0.0135	0.0030	0.0030	0.0128	0.0126	0.0005	0.0046	0.0046	0	0.0005	0.0098	0.0024	0.0039	0.0135	0.0026	0.0026	0.0026	0.0025	0.0119	0.0024	0.0023	0.0094	0.0085	0.0005	0.0011	0.0058	0.0038	0	0.0003	0.0210	0.0028	0.0038	0.0119	0.181	0.34982	T	0.274	0.44905	T	0.592	0.39119	P	0.285	0.40506	B	0.896885	0.07331	N	1.042340	0.999185	0.46274	D	1.67	0.42885	L	0.72	0.53516	T	-0.1	0.09135	N	0.421	0.46649	-1.0418	0.16770	T	0.088	0.33996	T	10	0.0072448254	0.00165	T	.	.	.	0.120	0.33359	.	.	0.689415230096	0.68675	0.36735301686045585	0.36649	0.206240801215	0.23047	0.452856063843	0.32334	T	0.306052	0.67827	T	-0.366052	0.03799	T	-0.287553	0.46027	T	0.0361810151235074	0.03013	T	0.938006	0.76748	D	0.104620844	0.24733	0.08811645	0.20524	0.104620844	0.24732	0.08811645	0.20524	-3.748	0.20029	T	.	.	0.098	0.16973	B	.;.;.;.;.	.;.;.;.;.	4.278755	0.65166	24.8	0.98733365136089013	0.45393	0.99019	0.90044	D	AEFDGBHIJ	0.787473	0.71724	D	0.295016695125541	0.55897	3.753701	0.42240438769022	0.62963	4.52103	0.999999694060353	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	5.380000	0.65953	9.810000	0.81742	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0749:0.0:0.9251:0.0	12.867	0.57332	679	0.60090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	907.98	40	chr14	61738101	.	G	T	907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.440e-01;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-1.420e-01;SOR=0.828	GT:AD:DP:GQ:PL	0/1:30,36:66:99:922,0,772	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|1:65,19:84:99:0|1:64158707_T_C:256,0,1870:64158707	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|1:65,19,0:84:99:0|1:64158707_T_C:256,0,1870,450,1927,2377:64158707	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|1:65,19,0:84:99:0|1:64158707_T_C:256,0,1870,450,1927,2377:64158707	16	0	4	0
chr14	65615996	65615996	T	G	exonic	FUT8	.	nonsynonymous SNV	FUT8:NM_178156:exon3:c.T222G:p.I74M	.	.	422	1097	3	0	0	3	0.0013655	.	.	904593	Congenital_disorder_of_glycosylation_with_defective_fucosylation_1|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0020775,MedGen:CN258220,OMIM:618005|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.001	B	0.007	N	1.000	D	0	N	1.95	T	-1.054	T	0.025	T	0.209	1.601	11.31	3.54	1.100	2.478	8.640	0.046	0.00639101840458	.	0.000199681	8.584e-05	0	0	0	0	0.0001	0	0.0002	9.06e-05	14	154602	rs368415291	0.0001	0.0001	0.0001	0.0001	0.0047	0.0001	0.0001	0.0033	0.0028	5.984e-05	0.0002	3.831e-05	0	0	0.0047	0.0001	0.0003	8.125e-05	5.908e-05	5.905e-05	6.424e-05	5.369e-05	0.0004	3.074e-05	2.208e-05	7.296e-05	3.031e-05	0	0	6.532e-05	0	0	0	0	8.821e-05	0	0.0004	0.181	0.21884	T	0.142	0.33330	T	0.0	0.02946	B	0.001	0.04355	B	0.006625	0.31903	N	0.383826	0.977806	0.81001	D	0.41	0.12415	N	1.95	0.22474	T	-0.32	0.12283	N	0.299	0.33796	-1.0543	0.13225	T	0.025	0.10509	T	10	0.06055504	0.07457	T	0.006391	0.16812	T	0.046	0.12618	.	.	0.251679625132	0.24793	0.20247834277608576	0.20164	0.604138712811	0.55366	0.3335519135	0.15470	T	0.185927	0.53906	T	-0.423222	0.01632	T	-0.576406	0.14867	T	0.0113774184137583	0.00169	T	0.79652	0.44001	T	0.03290703	0.03406	0.04918513	0.07464	0.03290703	0.03406	0.04918513	0.07463	-4.585	0.31982	T	0.30532263324297004	0.40293	0.065	0.01986	B	.;.	.;.	2.110556	0.26858	17.26	0.87574848574903463	0.17326	0.86747	0.46094	D	AEFGBIJ	0.211899	0.33764	N	-0.353674268639164	0.27136	1.486	-0.132646955503829	0.34084	1.956603	0.0289599853303266	0.13860	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	6.03	3.54	0.39650	2.504000	0.45076	0.993000	0.23206	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0768:0.1388:0.7843	8.640	0.33134	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1511.98	33	chr14	65615996	.	T	G	1511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.493e+00;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.440;SOR=0.638	GT:AD:DP:GQ:PL	0/1:62,60:122:99:1526,0,1695	20	0	1	0
chr14	67582079	67582079	C	T	exonic	PLEKHH1	.	nonsynonymous SNV	PLEKHH1:NM_020715:exon24:c.C3295T:p.R1099C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.872	P	0.000	D	1.000	D	2.125	M	0.77	T	-0.636	T	0.238	T	0.803	3.730	18.94	4.87	2.514	1.380	11.638	0.290	0.0412310306063	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756012004	3.429e-06	4.104e-06	2.728e-06	4.138e-06	1.169e-05	1.01e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.603e-06	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.872	0.61918	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	0.77	0.49642	T	-4.73	0.80085	D	0.723	0.72477	-0.6358	0.63324	T	0.238	0.60583	T	10	0.8013387	0.79531	D	0.041231	0.59811	D	0.290	0.60924	0.561	0.68093	0.554077600107	0.55066	0.6088620104614142	0.60818	0.852769158703	0.68625	0.598196148872	0.52649	T	0.144	0.48040	T	0.108852	0.65232	D	-0.0814181	0.64800	T	0.988797843456268	0.79084	D	0.938306	0.76795	D	0.47935352	0.65861	0.24269311	0.49696	0.47935352	0.65861	0.24269311	0.49695	-6.856	0.52974	T	.	.	0.105	0.19276	B	.	.	5.469102	0.91250	32	0.99934209626419512	0.99535	0.78988	0.39058	D	AEFGBI	0.100647	0.20233	N	0.542567832098223	0.69632	5.384437	0.511956970120717	0.68792	5.269414	0.876101619708026	0.25519	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.616125	0.45549	0	.	.	4.87	4.87	0.62877	1.155000	0.31311	4.061000	0.41587	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.930000	0.46718	0.0:0.9187:0.0:0.0813	11.638	0.50477	274	0.89249	FERM domain|Band 4.1 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	1053.98	39	chr14	67582079	.	C	T	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.140e-01;DP=779;ExcessHet=0.0000;FS=11.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=-5.600e-01;SOR=0.136	GT:AD:DP:GQ:PL	0/1:27,42:69:99:1068,0,686	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	1/1:0,5,0:5:16:226,16,0,226,16,226	0	19	0	0
chr14	74508039	74508039	C	T	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon25:c.G3709A:p.E1237K,	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	872591	not_provided|Glaucoma_3,_primary_congenital,_D|Weill-Marchesani_syndrome	MedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.81	T	0.989	D	0.717	P	0.015	N	0.992	D	1.1	L	-2.25	D	0.214	D	0.687	D	0.327	4.508	24.2	4.52	1.526	4.472	14.219	0.475	0.0744098239558	.	.	3.321e-05	9.728e-05	0	0	0	3.022e-05	0	6.085e-05	2.59e-05	4	154602	rs769155905	3.695e-05	3.762e-05	4.357e-05	3.026e-05	0.0002	2.894e-05	2.593e-05	2.828e-05	2.507e-05	0	0	0.0003	0	0	0.0002	3.777e-05	3.312e-05	2.319e-05	4.598e-05	4.596e-05	6.422e-05	2.689e-05	7.235e-05	2.109e-05	1.526e-05	1.972e-05	1.124e-05	7.235e-05	0	0	0	0	0	0	5.879e-05	0	0	0.046	0.40573	D	0.107	0.40426	T	0.989	0.62824	D	0.717	0.54739	P	0.015425	0.28249	N	0.164615	0.991679	0.41446	D	1.2	0.30300	L	-2.95	0.91903	D	-2.13	0.53258	N	0.442	0.48042	0.214	0.86147	D	0.687	0.89195	D	10	0.35173243	0.52017	T	0.07441	0.72034	D	0.475	0.76751	0.583	0.70990	0.822846821746	0.82117	0.4565086907759105	0.45568	0.457133581245	0.45357	0.500999808311	0.38968	T	0.456103	0.79500	T	-0.0637027	0.42327	T	-0.126627	0.61254	T	0.528910338878632	0.33694	D	0.929907	0.74113	D	0.18138279	0.39305	0.17138846	0.39317	0.18138279	0.39305	0.17138846	0.39317	-10.081	0.74395	D	.	.	0.085	0.10208	B	.;.	.;.	5.030268	0.83658	28.1	0.9991508308786764	0.98309	0.97123	0.72824	D	AEFDGBIJ	0.575440	0.57783	D	0.181302807755818	0.50301	3.22148	0.205805526192405	0.50170	3.211842	0.999999932479654	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.527494	0.11647	0	0.711	0.71501	0	.	.	5.41	4.52	0.54797	4.696000	0.61460	5.852000	0.50347	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.805000	0.37950	0.0:0.9289:0.0:0.0711	14.219	0.65353	259	0.89842	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	822.98	36	chr14	74508039	.	C	T	822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.431e+00;DP=768;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=0.803;SOR=0.584	GT:AD:DP:GQ:PL	0/1:44,39:83:99:837,0,1018	20	0	1	0
chr14	75764730	75764730	C	G	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon19:c.C1666G:p.R556G,	Cone-rod dystrophy 19, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	841794	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.852	P	0.473	N	1.000	N	1.355	L	3.64	T	-0.984	T	0.127	T	0.511	3.468	17.76	3.22	1.196	1.656	13.854	0.106	0.0348284695871	.	.	8.248e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs770811029	1.847e-05	1.847e-05	6.807e-06	3.025e-05	0.0003	1.265e-05	1.084e-05	7.997e-05	6.236e-05	0	0	0	0	0	0.0003	1.169e-05	0	0.0001	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.001	0.78490	D	0.026	0.63918	D	0.834	0.60733	P	0.438	0.60758	B	0.473440	0.12250	N	0.754917	1	0.81001	D	1.65	0.42232	L	3.58	0.32958	T	-2.53	0.60348	D	0.539	0.58713	-0.9837	0.34140	T	0.127	0.43318	T	10	0.29858518	0.47414	T	0.034828	0.55938	D	0.106	0.30130	0.328	0.31196	0.171388866994	0.16791	0.25798782657078684	0.25712	0.352308218396	0.37068	0.542880892754	0.44852	T	0.203749	0.56231	T	-0.249213	0.14195	T	-0.321454	0.42415	T	0.409095863189939	0.29284	T	0.889111	0.64631	D	0.25382072	0.48407	0.39753157	0.64365	0.25382072	0.48406	0.39753157	0.64365	-2.594	0.45110	T	0.23661305429944016	0.32040	0.381	0.58464	A	.;.;.;.	.;.;.;.	3.721703	0.53189	23.3	0.99825766202352806	0.90852	0.80901	0.40423	D	AEFDGBI	0.241742	0.36331	N	0.27821648190313	0.55046	3.668994	0.286711539582891	0.54763	3.640351	0.0289744459540654	0.13861	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.29	3.22	0.36041	1.695000	0.37381	3.458000	0.38494	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2891:0.7109:0.0:0.0	13.854	0.63013	840	0.37365	.;.;.;.	.	.	.	.	.	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	697.98	38	chr14	75764730	.	C	G	697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=774;ExcessHet=0.0000;FS=0.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.18;ReadPosRankSum=1.78;SOR=0.570	GT:AD:DP:GQ:PL	0/1:47,29:76:99:712,0,1086	20	0	1	0
chr14	75980812	75980812	T	G	exonic	TGFB3	.	nonsynonymous SNV	TGFB3:NM_001329938:exon1:c.A82C:p.T28P	Arrhythmogenic right ventricular dysplasia 1, Autosomal dominant;Loeys-Dietz syndrome 5, Autosomal dominant	.	0	1515	6	1	0	8	0.00263331	.	.	241896	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Rienhoff_syndrome|not_provided|Arrhythmogenic_right_ventricular_dysplasia_1	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582|MedGen:C3661900|MONDO:MONDO:0007152,MedGen:C1862511,OMIM:107970,Orphanet:3403	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.978	D	0.828	P	0.000	D	1.000	D	1.7	L	-0.14	T	-0.445	T	0.317	T	0.857	2.906	15.68	4.65	1.868	5.048	13.376	0.427	0.057687750084	.	0.000199681	0.0001	0	0	0	0.0002	4.495e-05	0	0.0006	9.7e-05	15	154602	rs564013964	4.309e-05	4.309e-05	2.722e-05	5.913e-05	0.0014	3.442e-05	3.129e-05	0.0007	0.0005	0	0	0	5.038e-05	1.872e-05	0.0014	8.093e-06	0.0001	0.0004	2.631e-05	2.626e-05	1.286e-05	4.037e-05	0.0002	8.15e-06	5.14e-06	.	.	0	0	6.545e-05	0	0	0	0	1.471e-05	0.0005	0.0002	0.048	0.47745	D	0.054	0.47097	T	0.978	0.58756	D	0.828	0.59497	P	0.000000	0.84330	D	0.000000	0.999829	0.49512	D	1.735	0.44892	L	-0.14	0.65006	T	-1.27	0.35792	N	0.204	0.28732	-0.4447	0.70575	T	0.317	0.68637	T	10	0.16817605	0.31354	T	0.057688	0.67052	D	0.427	0.73445	.	.	0.819186829257	0.81748	0.4155835036557827	0.41474	1.66393245162	0.89724	0.576532065868	0.49596	T	0.442459	0.78661	T	0.0123334	0.53343	T	0.101906	0.77034	D	0.241325313962933	0.22480	T	0.519248	0.29288	T	0.5239688	0.68486	0.58034986	0.75677	0.5239688	0.68487	0.58034986	0.75678	-5.74	0.44048	T	.	.	0.162	0.35746	B	.;.	.;.	3.408959	0.47284	22.4	0.99011646938320275	0.50377	0.91389	0.53435	D	AEFDGBCI	0.882908	0.81141	D	0.517933877809326	0.68151	5.177859	0.504873547102787	0.68318	5.203522	0.999999985237554	0.74766	0.764865	0.99124	0	0.588066	0.40923	0	0.731555	0.93304	0	0.604944	0.38103	0	.	.	4.65	4.65	0.57626	5.069000	0.64199	6.224000	0.55156	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.376	0.60185	883	0.28872	TGF-beta, propeptide;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2168.11	34	chr14	75980812	.	T	G	2168.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.80;DP=872;ExcessHet=0.1072;FS=3.205;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=1.78;SOR=0.952	GT:AD:DP:GQ:PL	0/1:74,39:113:99:925,0,1813	19	0	2	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	0/1:111,56:167:99:158,0,1762	5	0	16	0
chr14	88469073	88469073	T	A	exonic	PTPN21	.	nonsynonymous SNV	PTPN21:NM_007039:exon18:c.A3239T:p.Y1080F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.985	D	0.848	P	0.000	D	1.000	D	-0.98	N	3.0	T	-0.959	T	0.020	T	0.633	1.176	9.785	5.9	2.263	6.082	16.322	0.306	0.0147054395236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.813	0.03013	T	0.523	0.19304	T	0.985	0.61118	D	0.848	0.60574	P	0.000000	0.84330	D	0.000000	0.999847	0.49770	D	-2.3	0.00097	N	3.0	0.09167	T	-0.88	0.38540	N	0.529	0.62781	-0.9593	0.39311	T	0.020	0.08266	T	10	0.2675118	0.44264	T	0.014705	0.35003	T	0.306	0.62729	0.634	0.77032	0.454054078574	0.45028	.	.	0.967044701673	0.73226	0.830655813217	0.86662	D	0.088294	0.38126	T	-0.0898529	0.38101	T	-0.366844	0.37258	T	0.711248159408569	0.41261	D	0.908309	0.83814	D	0.2557414	0.48610	0.12113398	0.29228	0.2557414	0.48610	0.12113398	0.29228	-6.701	0.51818	T	.	.	0.126	0.35951	B	.;.;.	.;.;.	4.116285	0.61489	24.3	0.78995596577612581	0.12544	0.99099	0.91210	D	AEFDBI	0.730652	0.67797	D	0.0609757330364375	0.44648	2.735089	0.180668777996559	0.48789	3.090127	0.999999999999991	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	6.081000	0.70951	6.064000	0.53197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.430000	0.27449	0.0:0.0:0.0:1.0	16.322	0.82788	651	0.62880	PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	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	1407.98	33	chr14	88469073	.	T	A	1407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=791;ExcessHet=0.0000;FS=0.946;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.60;ReadPosRankSum=0.445;SOR=0.892	GT:AD:DP:GQ:PL	0/1:31,49:80:99:1422,0,735	20	0	1	0
chr14	91339397	91339397	C	A	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon8:c.G690T:p.K230N,	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	.	1	1515	6	0	0	6	0.00197628	.	.	2876015	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.35	T	0.336	B	0.148	B	0.185	U	1.000	N	0.84	L	0.92	T	-1.075	T	0.066	T	0.041	0.432	6.347	3.26	2.456	1.263	8.099	0.051	0.0242770888536	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001423	22	154602	rs774853335	9.513e-05	9.645e-05	3.949e-05	0.0002	0.0015	8.205e-05	7.72e-05	0.0013	0.0012	0	0	0	0	0	0.0005	8.996e-07	9.94e-05	0.0015	3.287e-05	3.284e-05	1.285e-05	5.384e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.193	0.20912	T	0.177	0.29740	T	0.336	0.33356	B	0.148	0.34065	B	0.185114	0.16997	U	0.494203	1	0.08975	N	1.2	0.30300	L	0.92	0.44461	T	-2.15	0.48687	N	0.413	0.45331	-1.0749	0.08369	T	0.066	0.27121	T	10	0.024396598	0.00669	T	0.024277	0.47266	T	0.051	0.14325	0.435	0.48664	0.442261297928	0.43845	0.17738444704325287	0.17657	0.472557916991	0.46495	0.413896203041	0.26995	T	0.031616	0.22120	T	-0.622434	0.00106	T	-0.691487	0.06303	T	0.0528517668626481	0.05994	T	0.256674	0.04023	T	0.09529641	0.22423	0.07720144	0.17176	0.09713975	0.22892	0.10343219	0.24817	-3.345	0.14325	T	.	.	0.230	0.46320	B	.	.	2.278986	0.29141	18.03	0.97894994287727344	0.36697	0.49493	0.28446	N	AEFDBCI	0.209093	0.33511	N	-0.460351812098027	0.23390	1.255761	-0.432914896617475	0.24037	1.314102	0.999571758709782	0.40495	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.25	3.26	0.36471	1.378000	0.33935	1.618000	0.27672	0.599000	0.40250	0.002000	0.15269	0.975000	0.29991	0.004000	0.06068	0.0:0.6976:0.1363:0.1661	8.099	0.30007	672	0.60758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1969.98	37	chr14	91339397	.	C	A	1969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.820e-01;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=0.456;SOR=0.681	GT:AD:DP:GQ:PL	0/1:64,72:136:99:1984,0,1733	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	1/4:0,28,0,0,8,0,0:38:99:.:.:2518,1221,1109,2280,1242,2687,2280,1242,2687,2687,1011,0,1449,1449,1331,2280,1242,2687,2687,1449,2687,2280,1242,2687,2687,1449,2687,2687	1	5	3	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.011	B	0.017	B	0.252	N	1.000	N	0.05	N	-2.05	D	-0.896	T	0.266	T	0.154	-1.272	0.044	2.69	0.689	0.019	3.621	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	13250.74	134	chr14	94497802	.	C	T	13250.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.980e-01;DP=3035;ExcessHet=54.0936;FS=263.453;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.70;ReadPosRankSum=-4.390e-01;SOR=12.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,50:134:99:.:.:367,0,1399	0	0	21	0
chr14	95203143	95203143	G	T	exonic	CLMN	.	nonsynonymous SNV	CLMN:NM_024734:exon9:c.C2206A:p.L736M,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.936	D	0.006	N	1.000	D	1.955	M	-3.65	D	0.561	D	0.827	D	0.456	1.457	10.82	0.988	0.586	1.389	4.110	0.462	0.170819074721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.136	0.34009	T	0.998	0.73220	D	0.936	0.67150	D	0.005738	0.32555	N	0.000000	0.916325	0.27395	N	1.83	0.48079	L	-3.65	0.95179	D	-0.74	0.20791	N	0.376	0.41754	0.561	0.91375	D	0.827	0.94203	D	10	0.43437508	0.57697	T	0.170819	0.84827	D	0.462	0.75889	0.359	0.36222	0.890315468549	0.88923	0.278990113856985	0.27812	0.522592563707	0.49982	0.477104455233	0.35658	T	0.110141	0.42460	T	0.16414	0.70584	D	-0.00200095	0.70206	D	0.731449007987976	0.42285	D	0.862414	0.55771	D	0.10453786	0.24713	0.07230506	0.15584	0.10453786	0.24713	0.07230506	0.15583	-5.156	0.38491	T	.	.	0.284	0.51643	B	.	.	2.925003	0.38838	20.8	0.98639571568777651	0.44028	0.68078	0.33667	D	AEFBI	0.236675	0.35908	N	-0.155912050611275	0.34983	2.003717	-0.259672704568198	0.29440	1.649373	0.989851939321493	0.31956	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.16	0.988	0.18914	1.453000	0.34778	2.551000	0.33264	-0.681000	0.04224	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.2647:0.0:0.5024:0.2329	4.110	0.09526	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	961.98	38	chr14	95203143	.	G	T	961.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.660e-01;DP=775;ExcessHet=0.0000;FS=4.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.74;ReadPosRankSum=0.836;SOR=0.315	GT:AD:DP:GQ:PL	0/1:33,37:70:99:976,0,909	20	0	1	0
chr14	100881437	100881437	G	A	exonic	RTL1	.	nonsynonymous SNV	RTL1:NM_001134888:exon4:c.C3352T:p.P1118S,	.	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.965	D	.	.	0.988	N	0.895	L	1.68	T	-1.078	T	0.092	T	0.297	4.200	21.8	3.11	2.030	3.558	9.951	0.069	0.0223086008605	.	.	0.0008	0	0	0	0	0.0003	0	0.0018	0.0001552	24	154602	rs371727033	0.0003	0.0003	0.0003	0.0004	0.0067	0.0003	0.0003	0.0050	0.0044	0.0002	0.0004	0.0001	2.798e-05	0	0.0067	0.0002	0.0006	0.0022	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	2.405e-05	0	0.0004	0.0003	0	0	0.0034	0.0002	0.0005	0.0017	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.987634	0.24496	N	1.7	0.43825	L	1.68	0.27184	T	-5.14	0.83292	D	0.248	0.28028	-1.0784	0.07661	T	0.092	0.35228	T	9	0.03666666	0.01978	T	0.022309	0.45185	T	0.069	0.20116	.	.	0.542764462858	0.53929	0.7246781867612822	0.72411	0.760933052735	0.64261	0.389236688614	0.23563	T	0.536222	0.84039	D	-0.461609	0.00960	T	-0.449076	0.27799	T	0.180993929591221	0.19297	T	0.489851	0.15048	T	0.29284504	0.52256	0.44669738	0.67775	0.29284504	0.52256	0.44669738	0.67775	-3.828	0.21223	T	.	.	0.116	0.26607	B	.;.	.;.	2.832361	0.37348	20.5	0.99802878321992239	0.88728	0.90123	0.51056	D	AEFDBI	.	.	.	0.217158434969505	0.52031	3.379929	0.112501460012062	0.45187	2.786348	0.995388041244918	0.34098	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.11	3.11	0.34883	3.061000	0.49656	3.628000	0.39306	0.618000	0.50648	0.994000	0.38300	0.989000	0.31174	0.515000	0.29359	0.0:0.0:1.0:0.0	9.951	0.40806	842	0.36989	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1213.98	52	chr14	100881437	.	G	A	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.960e-01;DP=957;ExcessHet=0.0000;FS=2.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.869;SOR=0.613	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1228,0,1281	20	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,91,0:251:99:0|1:104946204_C_T:3339,0,6382,3821,6656,10477:104946204	1	7	12	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	679.27	87	chr15	20534613	.	C	*,T	679.27	.	AC=7,3;AF=0.175,0.075;AN=40;BaseQRankSum=-3.180e-01;DP=2018;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3332;MLEAC=7,3;MLEAF=0.175,0.075;MQ=54.83;MQRankSum=0.894;QD=0.62;ReadPosRankSum=2.91;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:92,0,12:104:24:.:.:24,299,2870,0,2571,2536	10	0	7	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2232.49	67	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	C,*	2232.49	.	AC=9,5;AF=0.237,0.132;AN=38;BaseQRankSum=1.18;DP=1927;ExcessHet=14.4320;FS=1.229;InbreedingCoeff=-0.5556;MLEAC=10,5;MLEAF=0.263,0.132;MQ=51.48;MQRankSum=1.62;QD=2.28;ReadPosRankSum=-1.960e-01;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,11,0:71:99:.:.:315,0,2435,496,2500,2995	5	0	9	2
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	649.96	67	chr15	20534647	.	C	*,T	649.96	.	AC=14,2;AF=0.333,0.048;AN=42;BaseQRankSum=0.996;DP=1957;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=14,2;MLEAF=0.333,0.048;MQ=52.26;MQRankSum=0.013;QD=0.62;ReadPosRankSum=0.174;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,11,0:71:99:.:.:315,0,2435,496,2500,2995	5	0	14	0
chr15	20534663	20534663	G	0	exonic	GOLGA6L6	.	.	.	.	.	528	730	36	1	227	265	0.0253672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	276.43	67	chr15	20534663	.	G	GC,*	276.43	.	AC=1,12;AF=0.025,0.300;AN=40;BaseQRankSum=1.27;DP=1702;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=1,12;MLEAF=0.025,0.300;MQ=50.51;MQRankSum=-1.904e+00;QD=0.35;ReadPosRankSum=0.00;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:60,0,11:71:99:.:.:315,496,2995,0,2500,2435	7	0	1	1
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,11,0:71:99:.:.:315,0,2435,496,2500,2995	7	0	12	1
chr15	20534665	20534665	T	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1769delA:p.E590Gfs*26,	.	.	554	732	222	4	10	240	0.135773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0047	0.0009	0.0012	0.0086	0.0010	0.0010	0.0071	0.0065	0.0013	0.0035	0.0024	0.0086	0.0024	0.0016	0.0007	0.0012	0.0030	0.0013	0.0023	0.0013	0.0012	0.0017	0.0011	0.0010	0.0014	0.0013	0.0007	0	0.0017	0	0.0011	0.0013	0	0.0017	0.0012	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,11,0:71:99:.:.:315,0,2435,496,2500,2995	7	0	12	1
chr15	20534667	20534686	CCTTATCTTCTCCTCCTGCT	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1748_1767del:p.K583Rfs*43,	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0047	0.0014	0.0023	0.0079	0.0018	0.0017	0.0061	0.0055	0.0015	0.0036	0.0052	0.0079	0.0051	0.0038	0.0014	0.0019	0.0060	0.0022	0.0042	0.0024	0.0021	0.0035	0.0019	0.0018	0.0022	0.0020	0.0012	0	0.0035	0	0.0027	0.0020	0	0.0028	0.0028	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:60,0,11:71:99:.:.:315,496,2995,0,2500,2435	6	0	1	3
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:60,0,11:71:99:.:.:315,496,2995,0,2500,2435	6	0	1	3
chr15	20534667	20534667	C	0	exonic	GOLGA6L6	.	.	.	.	.	584	671	32	1	234	268	0.0247093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	276.54	67	chr15	20534667	.	C	*,CA	276.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=2.81;DP=1654;ExcessHet=14.4320;FS=0.598;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.17;MQRankSum=-1.904e+00;QD=0.32;ReadPosRankSum=0.453;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,11,0:71:99:.:.:315,0,2435,496,2500,2995	6	0	13	1
chr15	20534668	20534670	CTT	0	exonic	GOLGA6L6	.	.	.	.	.	594	661	33	1	233	268	0.0257922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	240.54	67	chr15	20534668	.	CTT	*,C	240.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=1.75;DP=1651;ExcessHet=14.4320;FS=0.595;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.12;MQRankSum=-1.948e+00;QD=0.28;ReadPosRankSum=1.06;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,11,0:71:99:.:.:315,0,2435,496,2500,2995	6	0	13	1
chr15	20534672	20534672	T	0	exonic	GOLGA6L6	.	.	.	.	.	554	704	31	1	232	265	0.0229008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	204.03	67	chr15	20534672	.	T	*,C	204.03	.	AC=13,1;AF=0.342,0.026;AN=38;BaseQRankSum=1.01;DP=1514;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5167;MLEAC=14,1;MLEAF=0.368,0.026;MQ=49.17;MQRankSum=-1.240e+00;QD=0.24;ReadPosRankSum=0.861;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,11,0:71:99:.:.:315,0,2435,496,2500,2995	5	0	13	2
chr15	20534676	20534676	C	0	exonic	GOLGA6L6	.	.	.	.	.	520	770	224	4	4	236	0.130926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	169.85	67	chr15	20534676	.	C	T,*	169.85	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=2.03;DP=1485;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.4784;MLEAC=1,13;MLEAF=0.026,0.342;MQ=51.07;MQRankSum=-7.020e-01;QD=0.22;ReadPosRankSum=-2.744e+00;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:60,0,11:71:99:.:.:315,496,2995,0,2500,2435	6	0	1	2
chr15	20534684	20534684	G	0	exonic	GOLGA6L6	.	.	.	.	.	520	750	24	2	226	254	0.0183246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	199.87	67	chr15	20534684	.	G	*,A	199.87	.	AC=11,2;AF=0.289,0.053;AN=38;BaseQRankSum=-1.982e+00;DP=1452;ExcessHet=13.8672;FS=0.600;InbreedingCoeff=-0.4791;MLEAC=12,2;MLEAF=0.316,0.053;MQ=47.03;MQRankSum=0.825;QD=0.25;ReadPosRankSum=0.678;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,11,0:71:99:.:.:315,0,2435,496,2500,2995	6	0	11	2
chr15	20534693	20534693	T	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.A1741G:p.M581V,	.	.	525	772	218	4	3	229	0.127684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.041	B	0.015	B	.	.	1.000	N	0.805	L	3.33	T	-0.935	T	0.009	T	0.033	-1.793	0.010	.	-1.777	-3.985	.	0.008	0.0074203089576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310726190	0.0007	0.0036	0.0006	0.0008	0.0040	0.0006	0.0006	0.0029	0.0025	0.0012	0.0015	0.0011	0.0040	0.0015	0.0012	0.0005	0.0008	0.0016	0.0010	0.0023	0.0011	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0005	0	0.0011	0	0.0007	0.0010	0.0046	0.0015	0.0013	0	.	.	.	0.419	0.14158	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	-0.9348	0.43424	T	0.009	0.03403	T	7	0.029617101	0.01088	T	0.00742	0.19685	T	.	.	.	.	0.0138822411134	0.00435	0.004044001980495092	0.00379	.	.	0.559128940105	0.47145	T	0.012766	0.11161	T	-0.359971	0.04131	T	-0.75485	0.03301	T	0.0197057358900899	0.00672	T	0.435556	0.11926	T	0.18490703	0.39828	0.36883113	0.62165	0.18490703	0.39828	0.36883113	0.62165	-6.123	0.47297	T	.	.	0.138	0.30130	B	.	.	0.552275	0.09206	5.991	0.22101327030199044	0.00873	0.00122	0.00764	N	AEFI	0.026473	0.01994	N	-1.86920376427058	0.00397	0.01706604	-1.98812300616187	0.00324	0.01432719	1.00268384750379E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.142000	0.15917	-1.292000	0.05797	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:60,0,11:71:99:.:.:315,496,2995,0,2500,2435	7	0	1	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:60,0,11:71:99:.:.:315,496,2995,0,2500,2435	7	0	1	2
chr15	20534697	20534697	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	53.17	67	chr15	20534697	.	C	T,*	53.17	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=1.89;DP=1389;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4609;MLEAC=1,12;MLEAF=0.026,0.316;MQ=46.42;MQRankSum=0.821;QD=0.07;ReadPosRankSum=-2.438e+00;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:60,0,11:71:99:.:.:315,496,2995,0,2500,2435	7	0	1	2
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1634.86	67	chr15	20534699	.	CCTCCTG	*,C	1634.86	.	AC=10,4;AF=0.263,0.105;AN=38;BaseQRankSum=-1.160e+00;DP=1326;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5547;MLEAC=11,4;MLEAF=0.289,0.105;MQ=42.46;MQRankSum=-1.014e+00;QD=2.12;ReadPosRankSum=0.176;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,11,0:71:99:.:.:315,0,2435,496,2500,2995	5	0	10	2
chr15	20535676	20535676	G	A	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.C758T:p.A253V,	.	.	903	606	10	3	0	16	0.0130293	.	.	2331833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.185	B	0.072	B	.	.	1.000	N	1.04	L	3.21	T	-0.969	T	0.013	T	0.055	-1.350	0.029	.	-1.573	-0.329	.	0.057	0.00135336302404	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1302792346	0.0073	0.0097	0.0064	0.0081	0.0242	0.0071	0.0070	0.0230	0.0226	0.0017	0.0031	0.0423	0.0021	6.566e-05	0.0099	0.0050	0.0081	0.0242	0.0052	0.0045	0.0051	0.0054	0.0223	0.0049	0.0047	0.0178	0.0162	0.0012	0.0260	0.0062	0.0504	0.0027	0	0.0055	0.0043	0.0071	0.0223	.	.	.	0.165	0.30926	T	.	.	.	.	.	.	.	.	.	.	0.999969	0.18878	N	.	.	.	.	.	.	.	.	.	0.025	0.00485	-0.9685	0.37510	T	0.013	0.05129	T	7	0.06213656	0.07898	T	0.001353	0.01936	T	.	.	.	.	0.0297737177859	0.01360	0.002610010390796344	0.00242	.	.	0.495142906904	0.38151	T	0.012942	0.11287	T	-0.388247	0.02761	T	-0.795466	0.02018	T	0.00822341605707464	0.00098	T	0.440756	0.12177	T	0.034567785	0.03903	0.09967183	0.23806	0.034567785	0.03903	0.09967183	0.23806	-4.904	0.35780	T	.	.	0.142	0.31253	B	.	.	-0.558998	0.01687	0.122	0.39597292329315309	0.02742	0.00189	0.01098	N	AEFI	0.017556	0.00468	N	-1.55047642574625	0.01532	0.06689154	-1.68353583424012	0.01212	0.05457186	5.21244997230675E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-5.508000	0.00140	-0.222000	0.10754	-3.581000	0.00074	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	382.71	2	chr15	20535676	.	G	A	382.71	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.030;DP=193;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0922;MLEAC=2;MLEAF=0.048;MQ=28.39;MQRankSum=-7.840e-01;QD=5.10;ReadPosRankSum=0.985;SOR=0.724	GT:AD:DP:GQ:PL	0/1:11,13:24:99:270,0,243	19	0	2	0
chr15	21652117	21652117	A	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.A234C:p.L78F,	.	.	465	768	265	24	0	313	0.169281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.738e-06	0.0002	4.777e-06	8.48e-06	8.749e-05	1.79e-06	5e-07	.	.	8.749e-05	0	7.657e-05	0	0	0	3.89e-06	0	0	8.705e-06	0.0001	0	1.8e-05	3.488e-05	0	0	.	.	3.488e-05	0	0	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000108	0.50451	N	0.000000	0.99988	0.19925	P	.	.	.	.	.	.	.	.	.	0.182	0.19728	-1.0434	0.16294	T	0.000	0.00011	T	9	0.0018065572	0.00024	T	.	.	.	.	.	0.381	0.39807	.	.	0.040043207446890695	0.03950	.	.	0.311506986618	0.12134	T	.	.	.	-0.674746	0.00051	T	-0.598182	0.12964	T	0.00326191471079691	0.00034	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	-0.124	0.00396	T	.	.	0.073	0.04599	B	.;.	.;.	0.850845	0.12232	8.774	0.66924304402247636	0.08201	0.00687	0.02939	N	AEI	.	.	.	-1.62473285776486	0.01146	0.04979641	-1.44264627457213	0.02837	0.1312614	5.3174549639366E-4	0.07248	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.24	2.28	0.27583	-1.083000	0.03507	-0.079000	0.12201	-0.781000	0.03322	0.002000	0.15269	0.160000	0.23254	0.175000	0.21139	0.3717:0.6283:0.0:0.0	9.685	0.39261	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	7981.03	35	chr15	21652117	.	A	C	7981.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.67;DP=1245;ExcessHet=1.7912;FS=1.131;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=28.20;MQRankSum=-5.080e-01;QD=11.27;ReadPosRankSum=0.254;SOR=0.597	GT:AD:DP:GQ:PL	0/1:24,41:65:99:949,0,512	15	0	6	0
chr15	21652190	21652190	C	T	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C307T:p.L103F,	.	.	442	748	311	21	0	353	0.190914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.129e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	0.261126	0.15312	N	0.485335	0.999366	0.21303	P	.	.	.	.	.	.	.	.	.	0.103	0.08646	-0.9711	0.36967	T	0.000	0.00011	T	9	0.0015220642	0.00017	T	.	.	.	.	.	.	.	.	.	0.030007910357616414	0.02949	.	.	0.290178626776	0.08949	T	.	.	.	-0.66378	0.00060	T	-0.582431	0.14328	T	0.000522953042824942	0.00004	T	0.540346	0.18307	T	.	.	.	.	.	.	.	.	-5.352	0.40455	T	.	.	0.093	0.14062	B	.;.	.;.	1.025571	0.14055	10.62	0.93500601886041435	0.23307	0.07624	0.13632	N	AEFCI	.	.	.	-0.844437362999696	0.12186	0.5925257	-0.887036193530605	0.12400	0.6376486	3.35547801273524E-4	0.06583	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	0.085	0.13749	-0.579000	0.05927	-1.581000	0.05125	0.268000	0.18485	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.0:0.3722:0.2141:0.4137	3.269	0.06470	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13026.03	35	chr15	21652190	.	C	T	13026.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=4.04;DP=1982;ExcessHet=1.7912;FS=3.181;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.24;MQRankSum=-2.000e-03;QD=11.47;ReadPosRankSum=0.342;SOR=0.777	GT:AD:DP:GQ:PL	0/1:61,65:126:99:1638,0,1432	15	0	6	0
chr15	21652283	21652283	G	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G400C:p.V134L,	.	.	444	742	317	19	0	355	0.19304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277263862	0.0001	0.0001	8.806e-05	0.0001	0.0006	8.456e-05	7.79e-05	0.0003	0.0002	0.0006	0.0002	0	0	0	0	9.504e-05	0.0002	9.725e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0008	0	0.0003	0	0	0	0	6.04e-05	0.0020	0	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.000469	0.44119	D	0.000000	1	0.08975	P	.	.	.	.	.	.	.	.	.	0.218	0.24385	-0.8916	0.48793	T	0.000	0.00011	T	9	0.001629144	0.00019	T	.	.	.	.	.	0.312	0.28612	.	.	0.07580462846120836	0.07516	.	.	0.250244468451	0.03793	T	.	.	.	-0.532543	0.00371	T	-0.393918	0.34092	T	0.031530545555236	0.02231	T	0.857714	0.54741	D	.	.	.	.	.	.	.	.	-5.754	0.44172	T	.	.	0.162	0.35767	B	.;.	.;.	2.487917	0.32091	18.94	0.99194466592430841	0.55083	0.14978	0.18683	N	AEFHCI	.	.	.	-0.187369143140256	0.33660	1.91217	-0.318033235840288	0.27516	1.527408	0.00464552456930878	0.10654	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	2.26	0.27418	2.575000	0.45689	1.571000	0.27417	0.299000	0.18918	0.133000	0.23395	0.004000	0.18990	0.984000	0.60418	0.2721:0.0:0.7279:0.0	5.367	0.15423	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18653.03	35	chr15	21652283	.	G	C	18653.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.441;DP=1829;ExcessHet=1.7912;FS=3.282;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.90;MQRankSum=-5.490e-01;QD=18.62;ReadPosRankSum=0.182;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,63:118:99:0|1:21652283_G_C:2397,0,2079:21652283	15	0	6	0
chr15	21652290	21652290	C	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C407A:p.A136D,	.	.	445	758	303	16	0	335	0.180983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325108497	7.359e-05	0.0001	5.407e-05	9.171e-05	0.0002	5.914e-05	5.388e-05	9.719e-05	7.073e-05	4.42e-05	0.0002	0	0	0	0	7.582e-05	0.0001	6.801e-05	8.658e-05	0.0002	7.449e-05	9.95e-05	0.0003	4.464e-05	3.34e-05	7.618e-05	4.051e-05	7.641e-05	0	0.0003	0	0	0	0	2.089e-05	0.0021	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000167	0.48594	D	0.000000	0.0199557	0.39625	P	.	.	.	.	.	.	.	.	.	0.631	0.64478	-0.9692	0.37366	T	0.000	0.00114	T	9	0.002110511	0.00030	T	.	.	.	.	.	.	.	.	.	0.4398908667552438	0.43906	.	.	0.395352125168	0.24421	T	.	.	.	-0.179371	0.23830	T	0.113389	0.77796	D	0.0805372903841944	0.10055	T	0.976052	0.91638	D	.	.	.	.	.	.	.	.	-13.572	0.91582	D	.	.	0.411	0.60193	A	.;.	.;.	4.705929	0.75548	26.4	0.99729135027837246	0.82619	0.93345	0.57969	D	AEFHCI	.	.	.	0.668177313905204	0.77549	6.696248	0.481736136598001	0.66782	4.996887	0.99991764154766	0.45857	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.696000	0.61460	5.281000	0.48180	0.268000	0.18485	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	12.276	0.54051	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18491.03	35	chr15	21652290	.	C	A	18491.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-6.300e-01;DP=1815;ExcessHet=1.7912;FS=3.262;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.87;MQRankSum=-4.920e-01;QD=18.57;ReadPosRankSum=0.519;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,61:116:99:0|1:21652283_G_C:2353,0,2085:21652283	15	0	6	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L,	.	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	1/1:0,99:99:99:3233,297,0	1	16	3	1
chr15	22607710	22607710	A	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon19:c.T1729C:p.C577R,	.	.	444	1070	8	0	0	8	0.00372439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	.	.	.	.	.	.	.	.	.	.	2.02	T	-1.005	T	0.038	T	0.245	-1.038	0.209	-0.212	-0.048	0.648	3.130	0.025	0.000278837205708	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs575226800	0.0008	0.0017	0.0008	0.0008	0.0036	0.0007	0.0007	0.0030	0.0028	0.0036	0.0010	0.0004	0.0001	2.707e-05	0.0005	0.0007	0.0010	0.0008	0.0015	0.0022	0.0015	0.0016	0.0032	0.0014	0.0013	0.0028	0.0026	0.0032	0	0.0017	0	0.0002	0.0001	0	0.0010	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	0.02381	41.98	38	chr15	22607710	.	A	G	41.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.540e-01;DP=502;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=29.63;MQRankSum=0.787;QD=1.45;ReadPosRankSum=0.664;SOR=0.693	GT:AD:DP:GQ:PL	0/1:25,4:29:56:56,0,692	20	0	1	0
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	314.45	2	chr15	22768302	.	T	G,TCATCTGCTCCTCCTGCTCCCCCATCTGCTCCTCCTGCTTCCG,*	314.45	.	AC=1,3,4;AF=0.029,0.088,0.118;AN=34;BaseQRankSum=0.967;DP=71;ExcessHet=0.0602;FS=1.808;InbreedingCoeff=0.2297;MLEAC=1,3,4;MLEAF=0.029,0.088,0.118;MQ=50.65;MQRankSum=-5.240e-01;QD=12.58;ReadPosRankSum=-1.282e+00;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:2,0,2,0:4:57:.:.:57,63,137,0,74,68,63,137,74,137	11	0	1	4
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3501.0	88	chr15	23361381	.	G	A,*	3501.0	.	AC=3,8;AF=0.071,0.190;AN=42;BaseQRankSum=-1.903e+00;DP=1729;ExcessHet=7.7275;FS=0.553;InbreedingCoeff=-0.3548;MLEAC=3,8;MLEAF=0.071,0.190;MQ=58.26;MQRankSum=0.843;QD=2.89;ReadPosRankSum=1.65;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:68,0,23:91:99:.:.:723,928,3700,0,2773,2702	10	0	3	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3879.31	36	chr15	23361385	.	C	*,G	3879.31	.	AC=7,4;AF=0.167,0.095;AN=42;BaseQRankSum=-6.440e-01;DP=1602;ExcessHet=2.2868;FS=1.792;InbreedingCoeff=-0.1085;MLEAC=7,4;MLEAF=0.167,0.095;MQ=56.41;MQRankSum=-1.962e+00;QD=3.42;ReadPosRankSum=2.34;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,23,0:91:99:.:.:723,0,2702,928,2773,3700	11	0	6	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	47381.92	167	chr15	23440492	.	C	*,T	47381.92	.	AC=19,19;AF=0.452,0.452;AN=42;BaseQRankSum=1.77;DP=3542;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=19,19;MLEAF=0.452,0.452;MQ=58.25;MQRankSum=-4.110e-01;QD=13.88;ReadPosRankSum=0.477;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,70,74:144:99:.:.:5159,2435,2979,2862,0,2640	0	0	2	0
chr15	27983407	27983407	C	T	exonic	OCA2	.	nonsynonymous SNV	OCA2:NM_001300984:exon13:c.G1369A:p.A457T	Albinism, brown oculocutaneous, Autosomal recessive;Albinism, oculocutaneous, type II, Autosomal recessive	YES	0	1505	17	0	0	17	0.00561612	.	.	15993	OCA2-related_disorder|not_specified|not_provided|Tyrosinase-positive_oculocutaneous_albinism	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.32	T	0.946	P	0.621	P	0.000	D	1.000	A	2.675	M	-1.67	D	-0.174	T	0.293	T	0.861	4.808	27.2	5.06	2.343	5.322	17.427	0.720	.	0.0013	0.00798722	0.0078	9.61e-05	0.0016	0.0303	0.0473	0.0047	0.0176	0.0009	0.0067528	1044	154602	rs74653330	0.0047	0.0047	0.0048	0.0046	0.0527	0.0046	0.0046	0.0508	0.0501	0.0002	0.0027	0.0177	0.0527	0.0458	0.0021	0.0012	0.0051	0.0009	0.0067	0.0067	0.0044	0.0090	0.0342	0.0063	0.0062	0.0300	0.0285	0.0003	0	0.0027	0.0173	0.0342	0.0545	0	0.0019	0.0052	0.0012	0.192	0.20988	T	0.436	0.13634	T	0.946	0.53363	P	0.621	0.51426	P	0.000000	0.84330	D	0.000000	0.999973	0.53665	A	2.755	0.80505	M	-1.67	0.82806	D	-2.12	0.48184	N	0.888	0.95608	-0.1744	0.78321	T	0.293	0.66508	T	9	0.014360964	0.00302	T	.	.	.	0.720	0.90101	.	.	0.918188717046	0.91736	0.9407718962271029	0.94058	0.4607494585	0.45631	0.729123711586	0.71378	T	0.574765	0.85979	D	-0.0541888	0.43808	T	0.211917	0.83764	D	0.0675672815574518	0.08305	T	0.990401	0.97014	D	0.2687473	0.49947	0.29853162	0.55887	0.28667596	0.51682	0.27513763	0.53447	-10.12	0.77077	D	0.5161700043131197	0.58914	0.208	0.52961	B	.;.	.;.	4.957557	0.81941	27.7	0.99912961034017145	0.98167	0.95027	0.63172	D	AEFDGBI	0.780824	0.71260	D	0.494835249542985	0.66786	4.99557	0.518449324302373	0.69234	5.331151	0.999999902065305	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	5.396000	0.66042	7.604000	0.61663	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.427	0.87420	958	0.09170	.;Citrate transporter-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1248.98	35	chr15	27983407	.	C	T	1248.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.580e-01;DP=822;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-7.210e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1263,0,1182	20	0	1	0
chr15	28706116	28706116	C	A	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon11:c.G874T:p.A292S,	.	.	531	987	4	0	0	4	0.00202224	0.9999	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	2.675	M	1.82	T	-1.010	T	0.100	T	0.072	2.227	13.40	0.798	0.724	2.866	4.952	0.099	0.00580194803917	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1464642995	0.0014	0.0009	0.0015	0.0014	0.0159	0.0014	0.0013	0.0148	0.0143	7.411e-05	5.053e-05	0	0.0159	3.278e-05	0.0005	0.0003	0.0028	0.0002	0.0007	0.0008	0.0006	0.0009	0.0171	0.0006	0.0006	0.0140	0.0129	7.314e-05	0	0.0003	0	0.0171	0	0	0.0002	0.0035	0.0002	0.029	0.45756	D	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	-2.6	0.89888	D	-2.0	0.46146	N	0.055	0.02658	-1.0102	0.26854	T	0.100	0.37213	T	6	0.0059670806	0.00134	T	0.005802	0.15072	T	.	.	.	.	0.110392049598	0.10638	0.22245081833408326	0.22160	2.52078213034	0.97734	.	.	.	0.050456	0.28601	T	-0.307715	0.07951	T	-0.379464	0.35787	T	0.102356778292837	0.12614	T	0.741226	0.36032	T	0.08473018	0.19623	0.087137155	0.20234	0.08473018	0.19623	0.087137155	0.20234	-5.777	0.44373	T	.	.	0.135	0.29255	B	.	.	3.403269	0.47175	22.4	0.98185820377582489	0.38984	0.44950	0.27431	N	AEFI	0.112328	0.22207	N	-0.0246702337209107	0.40739	2.424657	-0.326665104410343	0.27240	1.510171	4.95178924050169E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.798	0.798	0.17803	0.097000	0.15007	3.906000	0.40380	0.151000	0.17695	0.000000	0.06391	0.999000	0.35428	0.071000	0.16709	0.0:1.0:0.0:0.0	4.952	0.13370	923	0.18507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	348.98	30	chr15	28706116	.	C	A	348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.614;DP=744;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=23.79;MQRankSum=0.632;QD=9.43;ReadPosRankSum=-6.250e-01;SOR=0.704	GT:AD:DP:GQ:PL	0/1:20,17:37:99:363,0,433	20	0	1	0
chr15	28842754	28842754	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G1350A:p.M450I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288774704	0	1.438e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.893e-06	0.0002	0	1.414e-05	1.51e-05	0	0	.	.	0	0	0	0	0	0	0	1.51e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073978126	0.11250	T	.	.	.	.	.	.	.	.	.	0.025714335919542787	0.02522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49935	0.15589	T	0.26085496	0.49143	0.41460165	0.65598	0.26085496	0.49142	0.41460165	0.65599	-6.041	0.46621	T	.	.	0.320	0.54499	B	.	.	0.346122	0.07195	3.785	0.46182978349490345	0.03680	0.00699	0.02973	N	AEFCI	.	.	.	.	.	.	.	.	.	2.02772666150393E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.046323	0.05263	0.432	-0.864	0.10126	-1.139000	0.03324	-6.627000	0.01347	0.307000	0.19059	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	36.61	2	chr15	28842754	.	C	T	36.61	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.530e-01;DP=83;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0774;MLEAC=1;MLEAF=0.026;MQ=54.19;MQRankSum=-1.645e+00;QD=7.32;ReadPosRankSum=1.65;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:49:0|1:28842754_C_T:49,0,85:28842754	18	0	1	2
chr15	28842774	28842774	G	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.C1330T:p.R444W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1332133628	1.495e-05	4.521e-05	7.121e-06	2.36e-05	4.882e-05	8.85e-06	7.16e-06	7.93e-06	6.11e-06	0	0	0	3.926e-05	0	0	1.421e-05	2.36e-05	4.882e-05	0.0002	0.0005	0.0002	0.0001	0.0010	9.513e-05	7.452e-05	0.0002	7.505e-05	0.0002	0	0.0002	0	0	0.0005	0	0.0001	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05602908	0.06217	T	.	.	.	.	.	.	.	.	.	0.04232661021332076	0.04177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.630337	0.24523	T	0.25865686	0.48916	0.18417773	0.41454	0.25865686	0.48916	0.18417773	0.41453	-6.057	0.46753	T	.	.	0.126	0.26762	B	.	.	0.617512	0.09862	6.621	0.57542920807751563	0.05792	0.00376	0.01908	N	AEFDCI	.	.	.	.	.	.	.	.	.	3.85059366971751E-5	0.03775	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.046323	0.05263	0.432	-0.864	0.10126	-4.195000	0.00314	-11.787000	0.00575	-1.938000	0.00493	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	89.19	2	chr15	28842774	.	G	A,T	89.19	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=-2.530e-01;DP=79;ExcessHet=0.1336;FS=0.000;InbreedingCoeff=-0.1257;MLEAC=1,1;MLEAF=0.029,0.029;MQ=53.94;MQRankSum=-1.480e+00;QD=6.37;ReadPosRankSum=1.65;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2,0:5:49:0|1:28842754_C_T:49,0,100,58,106,164:28842754	15	0	1	4
chr15	29054732	29054732	C	T	exonic	APBA2	.	nonsynonymous SNV	APBA2:NM_001130414:exon3:c.C848T:p.S283L	.	.	398	1122	2	0	0	2	0.000890472	.	.	3462402	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.995	D	0.000	D	1.000	D	2.16	M	0.19	T	-0.316	T	0.378	T	0.821	4.747	26.5	4.96	2.280	5.469	17.228	0.222	0.0938796942508	.	.	4.31e-05	0	8.898e-05	0.0002	0	1.57e-05	0	6.179e-05	3.23e-05	5	154602	rs199985120	1.712e-05	1.779e-05	2.045e-05	1.377e-05	0.0003	1.175e-05	9.93e-06	0.0001	0.0001	0	0	0	0.0003	1.93e-05	0	5.396e-06	9.94e-05	2.319e-05	5.252e-05	5.249e-05	2.569e-05	8.056e-05	0.0008	2.555e-05	1.829e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	1.47e-05	0.0005	0.0004	0.001	0.78490	D	0.29	0.21011	T	1.0	0.90584	D	0.943	0.67921	D	0.000001	0.62929	D	0.000000	1	0.81001	D	2.255	0.64187	M	0.19	0.60236	T	-1.13	0.29114	N	0.722	0.92200	-0.3161	0.74531	T	0.378	0.73527	T	10	0.50790906	0.61926	D	0.09388	0.76152	D	0.222	0.51872	.	.	0.825040050735	0.82338	0.43017336382827925	0.42934	0.456294190807	0.45285	0.610453784466	0.54380	T	0.287754	0.66054	T	-0.0163387	0.49373	T	0.039078	0.72867	D	0.275478005409241	0.23981	T	0.963754	0.86559	D	0.3532879	0.57321	0.288726	0.54890	0.3532879	0.57322	0.288726	0.54889	-4.527	0.31240	T	.	.	0.116	0.33550	B	.;.;.;.;.	.;.;.;.;.	3.416041	0.47413	22.5	0.99925839538126981	0.99042	0.98346	0.81852	D	AEFBI	0.704090	0.65992	D	0.680841790562385	0.78376	6.859339	0.641758512173163	0.77998	6.788593	0.999999989366445	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.96	4.96	0.65153	5.544000	0.66938	3.241000	0.36966	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.570000	0.30651	0.0:1.0:0.0:0.0	17.228	0.86858	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2031.98	33	chr15	29054732	.	C	T	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.240e-01;DP=848;ExcessHet=0.0000;FS=4.963;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-2.730e-01;SOR=1.027	GT:AD:DP:GQ:PL	0/1:63,83:146:99:2046,0,1511	20	0	1	0
chr15	31229304	31229304	G	-	exonic	LOC283710	.	frameshift deletion	LOC283710:NM_001243538:exon2:c.75delC:p.R26Gfs*101,	.	.	454	9	11	367	681	1426	0.976409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	53256.77	60	chr15	31229302	.	CGG	C,CG	53256.77	.	AC=29,13;AF=0.690,0.310;AN=42;BaseQRankSum=1.54;DP=1738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=30,12;MLEAF=0.714,0.286;MQ=60.00;MQRankSum=0.00;QD=28.91;ReadPosRankSum=-3.970e-01;SOR=0.473	GT:AD:DP:GQ:PL	1/1:0,76,1:77:99:3044,229,0,2461,202,2261	0	10	0	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.974	D	0.014	N	0.997	N	.	.	0.86	T	-0.312	T	0.279	T	0.74	2.736	15.11	5.96	2.285	2.823	11.519	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2973.31	80	chr15	33066576	.	A	G	2973.31	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.410e-01;DP=1903;ExcessHet=3.5521;FS=152.585;InbreedingCoeff=-0.4238;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=3.75;ReadPosRankSum=0.714;SOR=10.260	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,9:95:81:0|1:33066576_A_G:81,0,3391:33066576	4	0	8	9
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.986	D	0.799	P	0.001	D	.	.	.	.	0.34	T	-0.655	T	0.195	T	0.183	2.701	14.99	3.06	0.846	0.241	5.341	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	3066.26	80	chr15	33066577	.	C	G	3066.26	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-6.420e-01;DP=1917;ExcessHet=4.7172;FS=160.684;InbreedingCoeff=-0.4737;MLEAC=12;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=3.55;ReadPosRankSum=0.903;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,9:95:81:0|1:33066576_A_G:81,0,3391:33066576	3	0	9	9
chr15	40367236	40367236	A	T	exonic	DISP2	.	nonsynonymous SNV	DISP2:NM_033510:exon8:c.A1124T:p.Y375F,	.	.	419	1092	11	0	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.997	D	0.000	D	1.000	D	1.425	L	2.06	T	-1.072	T	0.081	T	0.502	3.577	18.23	5.1	2.148	8.750	15.048	0.374	0.0138015359055	0.0038	0.000599042	0.0028	0.0007	0.0016	0	0.0011	0.0041	0.0022	0.0017	0.0029819	461	154602	rs140120816	0.0047	0.0047	0.0047	0.0047	0.0057	0.0046	0.0046	0.0055	0.0055	0.0007	0.0015	3.826e-05	0	0.0007	0.0033	0.0057	0.0038	0.0020	0.0031	0.0031	0.0032	0.0030	0.0054	0.0028	0.0027	0.0050	0.0048	0.0010	0.0132	0.0012	0	0.0002	0.0004	0.0102	0.0054	0.0043	0.0010	0.126	0.27194	T	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	2.06	0.20523	T	-3.44	0.67477	D	0.524	0.55366	-1.0718	0.09022	T	0.081	0.31913	T	10	0.010289907	0.00230	T	0.013802	0.33474	T	0.374	0.69273	.	.	0.40318662893	0.39936	0.6264669422324108	0.62579	1.13346350566	0.78696	0.610062718391	0.54325	T	0.406913	0.76268	T	-0.374259	0.03384	T	-0.309421	0.43720	T	0.0292433844621151	0.01874	T	0.835616	0.50622	T	0.35556233	0.57497	0.20925325	0.45262	0.35556233	0.57497	0.20925325	0.45261	-7.58	0.58171	D	.	.	0.192	0.41171	B	.	.	3.953223	0.57923	23.9	0.98327876198374875	0.40309	0.96947	0.71814	D	AEFGBCI	0.910034	0.86743	D	0.585146463874341	0.72247	5.775778	0.545486328544865	0.71082	5.601267	0.999999999999702	0.74766	0.582742	0.33608	0	0.610034	0.51514	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.1	5.1	0.68917	8.723000	0.91189	11.292000	0.92056	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.494000	0.28882	1.0:0.0:0.0:0.0	15.048	0.71509	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1508.98	35	chr15	40367236	.	A	T	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.25;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.887;SOR=0.665	GT:AD:DP:GQ:PL	0/1:78,54:132:99:1523,0,1896	20	0	1	0
chr15	42147155	42147155	C	A	exonic	PLA2G4F	.	nonsynonymous SNV	PLA2G4F:NM_213600:exon13:c.G1388T:p.G463V,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.96	M	2.65	T	-0.934	T	0.111	T	0.783	2.390	13.95	3.1	1.301	3.279	10.278	0.361	0.0145425674118	.	.	8.327e-06	0	0	0	0	1.515e-05	0	0	1.29e-05	2	154602	rs375956650	1.233e-05	1.437e-05	6.814e-06	1.789e-05	0.0005	7.7e-06	6.36e-06	0.0001	7.697e-05	0	0	0	0	0	0.0005	1.169e-05	3.313e-05	0	6.57e-06	6.562e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.008	0.67890	D	1.0	0.90584	D	0.997	0.86255	D	0.000104	0.50451	D	0.082401	1	0.81001	D	3.87	0.95912	H	.	.	.	.	.	.	0.906	0.90704	-0.9339	0.43560	T	0.111	0.39864	T	10	0.97825557	0.97694	D	0.014543	0.34724	T	0.361	0.68141	0.878	0.96734	0.713728962764	0.71122	0.8565723763018895	0.85620	.	.	0.437563478947	0.30244	T	0.196386	0.55276	T	0.218989	0.75679	D	0.0767863	0.75362	D	0.980145335197449	0.73202	D	0.90031	0.65351	D	0.76912725	0.81996	0.666433	0.80440	0.76912725	0.81997	0.666433	0.80441	-12.302	0.86291	D	.	.	0.601	0.68921	P	.	.	3.622086	0.51264	23.1	0.99654598391592752	0.77505	0.92303	0.55401	D	AEFDBI	0.537188	0.55509	D	0.326023380282053	0.57488	3.916282	0.192157656119835	0.49416	3.14508	0.999657012450967	0.41424	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.11	3.1	0.34780	3.507000	0.53128	2.541000	0.33216	-0.187000	0.09635	0.996000	0.39380	1.000000	0.68203	0.182000	0.21359	0.0:0.7893:0.1354:0.0753	10.278	0.42701	243	0.90483	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1209.98	33	chr15	42147155	.	C	A	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.650e-01;DP=889;ExcessHet=0.0000;FS=1.401;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=-2.430e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/1:76,55:131:99:1224,0,1878	20	0	1	0
chr15	42528287	42528287	G	T	exonic	SNAP23	.	nonsynonymous SNV	SNAP23:NM_003825:exon6:c.G292T:p.A98S,	.	.	436	1083	2	1	0	4	0.00184332	.	.	2380339	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.66	T	0.005	B	0.009	B	0.011	N	1.000	D	1.405	L	.	.	-1.052	T	0.116	T	0.16	1.832	12.09	3.52	0.532	1.005	5.289	0.030	0.00161923234541	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs756726088	1.573e-05	1.573e-05	1.497e-05	1.65e-05	0.0003	1.048e-05	8.75e-06	6.092e-05	2.521e-05	0	0	0	0	1.872e-05	0.0003	1.349e-05	6.623e-05	1.159e-05	1.314e-05	1.313e-05	2.571e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.576	0.08335	T	0.7	0.09425	T	0.005	0.12996	B	0.009	0.14300	B	0.011223	0.29610	N	0.385948	1	0.81001	D	1.875	0.49914	L	.	.	.	0.06	0.08187	N	0.099	0.08088	-1.0516	0.13954	T	0.116	0.41008	T	9	0.10402143	0.19156	T	0.001619	0.02625	T	0.030	0.07022	0.36	0.36385	0.346148929819	0.34228	0.2262435677907953	0.22539	0.260338649392	0.28604	0.437899380922	0.30291	T	0.015204	0.51207	T	-0.219024	0.18126	T	-0.444732	0.28280	T	0.0788072049617767	0.09833	T	0.677432	0.28627	T	0.023712277	0.01135	0.030845834	0.01592	0.023712277	0.01135	0.030845834	0.01592	-3.656	0.18671	T	.	.	0.081	0.11366	B	.;.;.;.	.;.;.;.	2.269737	0.29014	17.98	0.92240614777962193	0.21618	0.86256	0.45501	D	AEFBI	0.269301	0.38561	N	-0.347120504837264	0.27378	1.501622	-0.181678069555036	0.32209	1.830287	0.932161491579934	0.27077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.83	3.52	0.39415	1.155000	0.31311	5.094000	0.47379	0.656000	0.54149	0.998000	0.41325	1.000000	0.68203	0.700000	0.34141	0.2043:0.0:0.6468:0.1489	5.289	0.15028	92	0.96160	SNAP-25;SNAP-25;SNAP-25;SNAP-25	.	.	.	.	.	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	719.98	35	chr15	42528287	.	G	T	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.016e+00;DP=1001;ExcessHet=0.0000;FS=0.856;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=-7.770e-01;SOR=0.583	GT:AD:DP:GQ:PL	0/1:44,33:77:99:734,0,1125	20	0	1	0
chr15	42685420	42685437	TCCAACCCCATTGTGAGC	-	exonic	STARD9	.	nonframeshift deletion	STARD9:NM_020759:exon23:c.3842_3859del:p.L1299_E1304del,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0.0033	0	0	0.0003	0	0.0005	3.84e-05	1	26028	rs762481813	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	3.176e-05	0.0006	3.978e-05	8.404e-05	0.0001	0	0.0002	0.0004	0.0002	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0005	4.853e-05	0	0.0003	0	0.0008	0	0.0034	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4750.94	38	chr15	42685419	.	TTCCAACCCCATTGTGAGC	T	4750.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=4006;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=2.47;SOR=0.636	GT:AD:DP:GQ:PL	0/1:233,138:371:99:4765,0,8943	20	0	1	0
chr15	50749712	50749712	C	T	exonic	SPPL2A	.	nonsynonymous SNV	SPPL2A:NM_032802:exon2:c.G101A:p.G34E,	.	.	431	1068	22	1	0	24	0.0111111	.	.	1157483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	0.02	B	0.015	B	0.001	N	0.522	N	1.1	L	2.82	T	-1.095	T	0.016	T	0.202	2.952	15.84	3.8	1.384	1.261	8.270	0.028	0.00587756568224	0.0011	0.00259585	0.0019	9.612e-05	0.0015	0	0.0002	0.0016	0.0011	0.0064	0.0017788	275	154602	rs145832874	0.0014	0.0014	0.0011	0.0016	0.0067	0.0013	0.0013	0.0062	0.0061	5.977e-05	0.0011	0.0093	0	0.0003	0.0054	0.0009	0.0019	0.0067	0.0015	0.0015	0.0015	0.0015	0.0093	0.0013	0.0013	0.0072	0.0064	0.0003	0	0.0025	0.0104	0	0	0.0034	0.0013	0.0014	0.0093	0.06	0.37326	T	0.116	0.36497	T	0.02	0.18235	B	0.015	0.17295	B	0.001238	0.39743	N	0.291695	0.522116	0.31560	N	1.095	0.27400	L	2.82	0.10871	T	-1.52	0.36980	N	0.39	0.43126	-1.0953	0.04709	T	0.016	0.06377	T	10	0.005771637	0.00129	T	0.005878	0.15310	T	0.028	0.06331	.	.	0.180583059064	0.17676	0.6065184971295519	0.60582	0.177546895011	0.19976	0.559614479542	0.47213	T	0.008912	0.08144	T	-0.574326	0.00209	T	-0.594727	0.13259	T	0.0132353450448309	0.00235	T	0.859414	0.55137	D	0.0666134	0.14349	0.11202055	0.27026	0.0666134	0.14349	0.11202055	0.27025	-3.658	0.18700	T	.	.	0.319	0.54427	B	.	.	2.381070	0.30564	18.48	0.98042833001324559	0.37805	0.76154	0.37329	D	AEFDBIJ	0.147110	0.27071	N	-0.181220228882164	0.33917	1.929786	-0.0160047478032386	0.38992	2.305253	0.906822597963035	0.26242	0.706298	0.61202	0	0.724815	0.89359	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.72	3.8	0.42887	1.194000	0.31783	2.021000	0.30209	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.7246:0.1402:0.1353	8.270	0.30998	321	0.86949	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1543.98	46	chr15	50749712	.	C	T	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.299;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.35;ReadPosRankSum=-7.400e-02;SOR=0.761	GT:AD:DP:GQ:PL	0/1:29,60:89:99:1558,0,618	20	0	1	0
chr15	52064815	52064815	T	C	exonic	MAPK6	.	nonsynonymous SNV	MAPK6:NM_002748:exon6:c.T1981C:p.F661L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.001	B	0.000	N	0.999	D	0.695	N	-0.54	T	-0.966	T	0.170	T	0.165	1.292	10.22	3.95	0.841	3.566	7.557	0.099	0.00999997033343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.12265	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	N	0.090906	0.998691	0.45291	D	0.255	0.09829	N	-0.54	0.70950	T	-0.43	0.14390	N	0.17	0.18103	-0.9663	0.37954	T	0.170	0.51117	T	10	0.09832692	0.17770	T	0.01	0.26012	T	0.099	0.28413	0.252	0.19067	0.292942362817	0.28906	0.5084305033591271	0.50765	0.0261044709138	0.02667	0.520622014999	0.41714	T	0.22831	0.59382	T	-0.132265	0.31130	T	-0.427766	0.30188	T	0.246853113174438	0.22732	T	0.728227	0.34274	T	0.07236734	0.16091	0.07451719	0.16310	0.07236734	0.16091	0.07451719	0.16310	-2.724	0.07506	T	.	.	0.405	0.59865	A	.	.	2.761204	0.36222	20.2	0.96632512907196877	0.30520	0.92191	0.55148	D	AEFBI	0.440909	0.49928	N	-0.309773277962737	0.28776	1.590056	-0.127551966194358	0.34283	1.970367	0.99991020320938	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	3.95	0.44952	3.720000	0.54661	3.870000	0.40183	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:0.1682:0.0:0.8318	7.557	0.26998	266	0.89551	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	203.11	46	chr15	52064815	.	T	C	203.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.016e+00;DP=950;ExcessHet=0.1072;FS=203.975;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.92;MQRankSum=0.00;QD=1.02;ReadPosRankSum=0.905;SOR=7.903	GT:AD:DP:GQ:PL	0/1:71,19:90:99:108,0,1638	19	0	2	0
chr15	58679228	58679228	A	G	exonic	ADAM10	.	nonsynonymous SNV	ADAM10:NM_001110:exon4:c.T380C:p.F127S	Reticulate acropigmentation of Kitamura, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.013	B	0.038	B	0.000	D	1.000	D	0.93	L	3.31	T	-0.961	T	0.017	T	0.939	4.083	21.0	5.67	2.162	8.920	15.900	0.330	0.0468036735907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.10180	T	0.516	0.10607	T	0.007	0.14184	B	0.026	0.20792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	3.31	0.06291	T	-0.78	0.21644	N	0.935	0.94077	-0.9607	0.39050	T	0.017	0.07092	T	10	0.85673785	0.84874	D	0.046804	0.62629	D	0.330	0.65226	0.818	0.93195	0.750870991732	0.74862	0.7810347544278903	0.78054	0.553159282221	0.52090	0.677485346794	0.63908	T	0.101358	0.40805	T	0.194837	0.73410	D	0.042093	0.73064	D	0.715053021907806	0.41450	D	0.922708	0.71908	D	0.5953555	0.72440	0.5304736	0.72871	0.5953555	0.72442	0.5304736	0.72871	-8.731	0.65949	D	0.1890421041001883	0.24712	0.650	0.70937	P	.	.	4.221973	0.63864	24.6	0.99776152517939554	0.86346	0.98859	0.87803	D	AEFGBI	0.936427	0.93272	D	0.0111440760784277	0.42361	2.550938	0.230508985727639	0.51549	3.336423	0.999999999982885	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.67	5.67	0.87673	8.905000	0.92214	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.900	0.79150	945	0.12563	Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	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	82.98	41	chr15	58679228	.	A	G	82.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.990e+00;DP=754;ExcessHet=0.0000;FS=45.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.30;ReadPosRankSum=1.35;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,12:64:97:0|1:58679228_A_G:97,0,1859:58679228	20	0	1	0
chr15	58679229	58679229	A	G	exonic	ADAM10	.	nonsynonymous SNV	ADAM10:NM_001110:exon4:c.T379C:p.F127L	Reticulate acropigmentation of Kitamura, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.001	B	0.008	B	0.000	D	1.000	D	2.175	M	3.48	T	-1.049	T	0.025	T	0.878	3.506	17.92	5.67	2.162	8.920	15.900	0.271	0.0308426739969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	0.04713	T	0.786	0.04247	T	0.001	0.07471	B	0.008	0.13708	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.425	0.70256	M	3.48	0.05130	T	-1.05	0.27463	N	0.832	0.82761	-1.0492	0.14621	T	0.025	0.10553	T	10	0.5821212	0.65908	D	0.030843	0.53068	D	0.271	0.58633	0.435	0.48664	0.709354412968	0.70681	0.7320703265798069	0.73152	0.355086823408	0.37273	0.697846770287	0.66833	T	0.132989	0.46340	T	0.168356	0.70972	D	0.00405502	0.70598	D	0.940934717655182	0.61372	D	0.956104	0.83363	D	0.58675337	0.71975	0.49563286	0.70832	0.58675337	0.71976	0.49563286	0.70832	-7.085	0.54652	T	0.3824464867043131	0.47668	0.905	0.83091	P	.	.	4.067430	0.60402	24.2	0.99704682104758291	0.80867	0.98859	0.87803	D	AEFGBI	0.933045	0.92432	D	0.0815813711254063	0.45603	2.814187	0.263518944222337	0.53424	3.511277	0.999999999982885	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.67	5.67	0.87673	8.905000	0.92214	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.900	0.79150	945	0.12563	Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	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	82.98	41	chr15	58679229	.	A	G	82.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.342e+00;DP=755;ExcessHet=0.0000;FS=45.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.30;ReadPosRankSum=1.32;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,12:64:97:0|1:58679228_A_G:97,0,1859:58679228	20	0	1	0
chr15	63663037	63663037	C	T	exonic	HERC1	.	nonsynonymous SNV	HERC1:NM_003922:exon44:c.G8848A:p.D2950N,	Macrocephaly, dysmorphic facies, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.2	B	0.119	B	0.000	D	1.000	D	1.5	L	1.75	T	-1.096	T	0.078	T	0.052	5.212	33	5.92	2.801	7.814	20.317	0.117	0.0042069741562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.295	0.20680	T	0.2	0.29645	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.75	0.26152	T	-0.79	0.21860	N	0.342	0.38335	-1.0957	0.04653	T	0.078	0.30982	T	10	0.15499854	0.29224	T	0.004207	0.10153	T	0.117	0.32689	0.224	0.14813	0.0934897674506	0.08844	0.8564759377475429	0.85610	1.06899569482	0.76745	0.836723029613	0.87594	D	0.116465	0.43584	T	-0.222763	0.17618	T	-0.55776	0.16587	T	0.882360637187958	0.53246	D	0.962254	0.85785	D	0.2077112	0.42985	0.1881002	0.42081	0.2077112	0.42984	0.1881002	0.42080	-4.35	0.28872	T	.	.	0.404	0.59788	A	.	.	4.529238	0.71081	25.6	0.99917986830066463	0.98518	0.98845	0.87614	D	AEFBI	0.852492	0.76940	D	0.326699993145109	0.57522	3.91989	0.495299746844576	0.67678	5.116288	0.999999999999982	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	7.902000	0.86082	7.728000	0.67649	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.317	0.98658	730	0.54327	.	.	.	.	.	.	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	1720.98	34	chr15	63663037	.	C	T	1720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.050e-01;DP=827;ExcessHet=0.0000;FS=0.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-1.275e+00;SOR=0.769	GT:AD:DP:GQ:PL	0/1:56,67:123:99:1735,0,1470	20	0	1	0
chr15	65625539	65625539	A	G	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001301031:exon1:c.A1459G:p.K487E	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1011567	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	2.45	M	-0.02	T	-0.080	T	0.448	T	0.834	4.789	27.0	5.86	2.237	7.315	15.415	0.441	0.0671492472665	.	.	8.28e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs745977526	3.421e-06	3.42e-06	5.445e-06	1.375e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.656e-05	0	6.57e-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	0.34800	T	0.005	0.76473	D	0.989	0.90584	D	0.98	0.92359	D	0.000000	0.84330	D	0.000000	0.999991	0.81001	D	2.07	0.56829	M	-0.02	0.62918	T	-3.84	0.72240	D	0.791	0.81162	-0.0796	0.80562	T	0.448	0.78348	T	10	0.6029446	0.67015	D	0.067149	0.70084	D	0.441	0.74447	0.261	0.20473	0.874030273633	0.87280	0.7647063837806078	0.76419	0.876422331603	0.69590	0.733593821526	0.72031	T	0.091415	0.74393	T	0.222876	0.76047	D	0.0823698	0.75737	D	0.990809440612793	0.81037	D	0.962504	0.86020	D	0.62241673	0.73893	0.54210067	0.73535	0.62241673	0.73894	0.54210067	0.73535	-8.498	0.64904	D	.	.	0.538	0.70641	A	.;.;.;.;.;.	.;.;.;.;.;.	4.372934	0.67337	25.1	0.99816912920290091	0.90061	0.99391	0.95423	D	AEFBI	0.859937	0.77771	D	0.817721078587391	0.87202	9.136921	0.799048345361949	0.89726	10.09575	0.9999999997764	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.86	5.86	0.93936	7.304000	0.78201	11.283000	0.91806	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.415	0.74686	619	0.66147	Sodium/calcium exchanger membrane region;Sodium/calcium exchanger membrane region;.;Sodium/calcium exchanger membrane region;.;.	.	.	.	.	.	Uncertain significance	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	2243.98	37	chr15	65625539	.	A	G	2243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.289e+00;DP=958;ExcessHet=0.0000;FS=1.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.042;SOR=0.592	GT:AD:DP:GQ:PL	0/1:110,98:208:99:2258,0,2902	20	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.029	B	0.033	B	0.056	N	1.000	D	0.49	N	1.3	T	-1.076	T	0.043	T	0.166	2.434	14.10	2.44	0.229	0.607	5.619	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	421.01	75	chr15	66326260	.	C	G	421.01	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.199e+00;DP=1586;ExcessHet=2.5830;FS=250.229;InbreedingCoeff=-0.2058;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=1.02;SOR=10.704	GT:AD:DP:GQ:PL	0/1:78,21:99:87:87,0,2013	14	0	7	0
chr15	69256054	69256054	A	G	exonic	GLCE	.	nonsynonymous SNV	GLCE:NM_001324091:exon3:c.A248G:p.K83R	.	.	429	1092	1	0	0	1	0.000457666	.	.	714572	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.42	T	0.001	B	0.001	B	0.000	D	0.806	D	0	N	1.48	T	-1.044	T	0.009	T	0.087	2.117	13.03	2.99	0.955	3.995	8.566	0.074	.	0.0094	0.0121805	0.0031	0.0302	0.0023	0	0	0.0005	0.0022	0.0002	0.0030853	477	154602	rs61746980	0.0013	0.0013	0.0015	0.0012	0.0321	0.0013	0.0013	0.0305	0.0298	0.0321	0.0032	0.0007	0	0	0.0019	0.0005	0.0028	0.0005	0.0100	0.0100	0.0103	0.0097	0.0324	0.0096	0.0094	0.0309	0.0303	0.0324	0	0.0078	0.0006	0	9.411e-05	0.0068	0.0005	0.0076	0.0004	0.214	0.28772	T	0.487	0.11656	T	0.001	0.07471	B	0.001	0.04355	B	0.000001	0.84330	D	0.094194	0.700816	0.34575	D	0.755	0.19153	N	1.48	0.31731	T	-0.19	0.09965	N	0.063	0.10056	-1.0441	0.16089	T	0.009	0.03096	T	10	0.002390802	0.00035	T	.	.	.	0.074	0.21613	.	.	0.465806656444	0.46208	0.39450988241106466	0.39365	0.319701965432	0.34168	0.433156967163	0.29640	T	0.333894	0.70370	T	-0.607302	0.00132	T	-0.622126	0.11018	T	0.0199262231920127	0.00693	T	0.754824	0.37774	T	0.13466361	0.31281	0.09052559	0.21232	0.13466361	0.31280	0.09052559	0.21232	-3.847	0.21508	T	.	.	0.088	0.11701	B	.;.	.;.	2.300044	0.29432	18.12	0.99491247469827204	0.67460	0.94950	0.62896	D	AEFDGBHI	0.244580	0.36566	N	-0.379095534821612	0.26215	1.429028	-0.172567938165722	0.32550	1.852965	0.999897900488652	0.45129	0.743674	0.98306	0	0.588015	0.36545	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.3	2.99	0.33673	3.963000	0.56480	4.180000	0.42331	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8396:0.0:0.1604:0.0	8.566	0.32703	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2244.98	41	chr15	69256054	.	A	G	2244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.323e+00;DP=976;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=1.23;SOR=0.691	GT:AD:DP:GQ:PL	0/1:79,93:172:99:2259,0,2191	20	0	1	0
chr15	69268342	69268342	C	T	exonic	GLCE	.	nonsynonymous SNV	GLCE:NM_001324092:exon4:c.C181T:p.L61F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.294	B	0.039	B	0.000	D	0.971	D	1.65	L	1.4	T	-1.071	T	0.071	T	0.257	1.306	10.28	5.39	2.525	3.057	12.781	0.062	0.00961212537353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.07473	T	0.673	0.06245	T	0.294	0.32391	B	0.039	0.23607	B	0.000014	0.62929	D	0.117299	0.97128	0.38859	D	1.67	0.42885	L	1.4	0.33630	T	-1.52	0.36980	N	0.229	0.26957	-1.0705	0.09304	T	0.071	0.28871	T	10	0.15230167	0.28770	T	0.009612	0.25130	T	0.062	0.17934	0.296	0.26041	0.385743280973	0.38186	0.1818463035224681	0.18103	0.496296462645	0.48146	0.511974096298	0.40498	T	0.594481	0.86912	D	-0.158924	0.26926	T	-0.46606	0.25943	T	0.38704913854599	0.28452	T	0.921108	0.71398	D	0.32328933	0.54916	0.21315694	0.45815	0.32328933	0.54916	0.21315694	0.45814	-5.327	0.40209	T	.	.	0.110	0.21125	B	.;.	.;.	2.142935	0.27288	17.41	0.98237384910952541	0.39449	0.91461	0.53581	D	AEFBI	0.372078	0.45785	N	-0.00556309749470511	0.41602	2.491405	0.150399244644302	0.47162	2.951	0.999953326985891	0.48110	0.706548	0.73137	0	0.588015	0.36545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	3.119000	0.50115	3.363000	0.37875	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1639:0.8361:0.0:0.0	12.781	0.56857	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	0.02381	809.98	34	chr15	69268342	.	C	T	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.02;ReadPosRankSum=-9.520e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/1:67,34:101:99:824,0,1674	20	0	1	0
chr15	73260364	73260364	T	C	exonic	NEO1	.	nonsynonymous SNV	NEO1:NM_001172623:exon15:c.T2297C:p.I766T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.893	P	0.882	P	0.000	D	1.000	D	0.885	L	2.02	T	-1.106	T	0.083	T	0.863	4.490	24.1	5.2	2.096	6.253	15.371	0.329	0.0105684272862	.	.	1.649e-05	0	0	0	0	1.5e-05	0	6.056e-05	1.94e-05	3	154602	rs200286275	1.847e-05	1.847e-05	1.906e-05	1.788e-05	3.478e-05	1.265e-05	1.084e-05	1.213e-05	1.03e-05	0	0	0	0	0	0	1.889e-05	4.968e-05	3.478e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.025	0.47320	D	0.089	0.40426	T	0.579	0.38789	P	0.814	0.58796	P	0.000000	0.84330	D	0.047705	1	0.81001	D	1.04	0.26193	L	2.02	0.21119	T	-3.86	0.72471	D	0.475	0.55799	-1.1057	0.03467	T	0.083	0.32556	T	10	0.5856902	0.66097	D	0.010568	0.27259	T	0.329	0.65126	0.537	0.64730	0.382607109125	0.37878	0.4518500324431801	0.45103	0.275615061522	0.30037	0.831962585449	0.86864	D	0.418726	0.77098	T	0.0268761	0.55306	T	-0.0176429	0.69183	D	0.66841846704483	0.39267	D	0.974903	0.91709	D	0.43603823	0.63147	0.38064152	0.63092	0.43603823	0.63147	0.38064152	0.63092	-5.103	0.39784	T	.	.	0.355	0.59381	A	.;.;.;.;.	.;.;.;.;.	3.722239	0.53200	23.3	0.99850027860766932	0.92925	0.97008	0.72158	D	AEFGBI	0.783156	0.71422	D	0.416933984709269	0.62354	4.449845	0.483575092644581	0.66900	5.012895	0.99999584788355	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.2	5.2	0.71720	6.210000	0.72114	5.076000	0.47223	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	15.371	0.74284	675	0.60470	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1718.98	33	chr15	73260364	.	T	C	1718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.742;DP=838;ExcessHet=0.0000;FS=1.354;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-7.570e-01;SOR=0.550	GT:AD:DP:GQ:PL	0/1:64,73:137:99:1733,0,1383	20	0	1	0
chr15	75844444	75844444	T	C	exonic	UBE2Q2	.	nonsynonymous SNV	UBE2Q2:NM_001145335:exon1:c.T91C:p.C31R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.001	B	0.001	B	.	.	1.000	N	0.695	N	.	.	-1.013	T	0.059	T	0.103	1.245	10.05	-2.24	-0.507	0.002	8.805	0.011	0.000845717180134	.	.	5.033e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs745615700	5.574e-05	5.336e-05	6.063e-05	5.071e-05	0.0012	4.538e-05	4.197e-05	0.0006	0.0004	0	0	0	0	0	0.0012	6.024e-05	8.622e-05	1.262e-05	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0002	5.24e-06	2.45e-06	.	.	2.405e-05	0	0	0	0	0	0.0034	0	0	0.0002	0.011	0.55530	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.19486	N	.	.	.	.	.	.	1.16	0.01136	N	0.142	0.14196	-1.0133	0.25880	T	0.059	0.24575	T	8	0.05821386	0.06809	T	8.46E-4	0.00713	T	.	.	.	.	0.241078983079	0.23725	.	.	.	.	.	.	.	.	.	.	-0.300929	0.08572	T	-0.444338	0.28323	T	0.0634488672709693	0.07700	T	0.230977	0.03126	T	.	.	.	.	.	.	.	.	-2.374	0.04976	T	.	.	0.224	0.45605	B	.	.	0.577085	0.09458	6.234	0.65398601453607386	0.07761	0.02125	0.06275	N	ALL	0.047009	0.07869	N	-1.25421900902732	0.04244	0.191169	-1.34997229990628	0.03806	0.1782938	0.999999999997514	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.179345	0.04352	3	0.56214	0.19341	0	.	.	2.31	-2.24	0.06518	-0.004000	0.12813	-1.348000	0.05654	-0.183000	0.09960	0.064000	0.21895	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.6637:0.3363	8.805	0.34088	213	0.91726	.	.	.	.	.	.	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	0.025	2085.33	36	chr15	75844444	.	T	C	2085.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.114e+00;DP=984;ExcessHet=0.0000;FS=0.539;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-2.100e-02;SOR=0.629	GT:AD:DP:GQ:PL	0/1:90,95:185:99:2099,0,2310	19	0	1	1
chr15	77114350	77114350	T	G	exonic	PEAK1	.	nonsynonymous SNV	PEAK1:NM_024776:exon8:c.A5047C:p.S1683R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.001	B	0.001	B	0.168	U	0.994	N	0	N	-0.41	T	-1.018	T	0.117	T	0.282	0.140	4.754	1.95	0.410	0.709	8.264	0.110	0.0197898326284	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234979243	3.42e-06	3.42e-06	6.806e-06	0	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	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.456	0.12740	T	0.001	0.07471	B	0.001	0.04355	B	0.167843	0.17464	U	0.548905	1	0.08975	N	0.895	0.22405	L	-0.41	0.69413	T	-1.06	0.27669	N	0.169	0.17966	-1.0175	0.24528	T	0.117	0.41341	T	10	0.08972207	0.15567	T	0.01979	0.42241	T	0.110	0.31079	0.553	0.66995	0.20808081866	0.20439	0.4181313653680462	0.41729	0.0666632247173	0.07434	0.339246571064	0.16325	T	0.02292	0.17585	T	-0.133887	0.30870	T	-0.430096	0.29925	T	0.0531158180981099	0.06039	T	0.445455	0.12454	T	0.11585771	0.27334	0.11630786	0.28078	0.11585771	0.27334	0.11630786	0.28077	-4.935	0.36126	T	.	.	0.272	0.50563	B	.;.	.;.	0.662584	0.10309	7.041	0.93661038767010396	0.23551	0.71772	0.35158	D	AEFBI	0.198678	0.32552	N	-1.0178560477284	0.08233	0.3853115	-0.927313336151418	0.11451	0.5834265	0.999729476171335	0.42220	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.57	1.95	0.25130	0.453000	0.21523	0.448000	0.18493	-0.137000	0.12594	0.176000	0.24013	0.187000	0.23467	0.009000	0.08673	0.0:0.2951:0.0:0.7049	8.264	0.30964	363	0.84772	.;.	.	.	.	.	.	Uncertain significance	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	1862.98	38	chr15	77114350	.	T	G	1862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.490e-01;DP=980;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-2.391e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/1:82,79:161:99:1877,0,2084	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	0/2:109,0,9:122:99:.:.:347,537,4485,0,4000,3989	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	0/2:109,0,9:122:99:.:.:347,537,4485,0,4000,3989	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	0/1:109,9,0:122:99:.:.:347,0,3989,537,4000,4485	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	0/1:109,9,0:122:99:.:.:347,0,3989,537,4000,4485	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	0/2:84,4,9,0:97:99:.:.:419,212,3233,0,2894,3022,535,3295,3085,3590	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	0/2:84,0,9:97:99:.:.:419,535,3590,0,3085,3022	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	0/2:84,0,9:97:99:.:.:419,535,3590,0,3085,3022	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	0/1:84,9,0:97:99:.:.:419,0,3022,535,3085,3590	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	0/1:84,9,0:97:99:.:.:419,0,3022,535,3085,3590	11	0	5	2
chr15	83008519	83008519	-	A	exonic	C15orf40	.	frameshift insertion	C15orf40:NM_001160113:exon3:c.394dupT:p.L132Ffs*69,	.	.	452	773	160	3	134	300	0.0969626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4025.8	36	chr15	83008518	.	CA	C,CAA	4025.8	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-3.980e-01;DP=1512;ExcessHet=11.8493;FS=0.573;InbreedingCoeff=-0.4535;MLEAC=5,8;MLEAF=0.119,0.190;MQ=59.99;MQRankSum=0.00;QD=4.26;ReadPosRankSum=0.964;SOR=0.734	GT:AD:DP:GQ:PL	0/1:68,19,12:99:99:174,0,1628,180,1294,1850	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	0/1:132,42,0:174:99:.:.:747,0,3990,1143,4115,5258	8	0	5	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	1/1:1,100,0:101:99:3265,293,0,3268,300,3274	0	11	9	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.505	P	0.383	B	0.000	D	1.000	D	1.175	L	.	.	-0.761	T	0.199	T	0.564	3.915	19.91	6.17	2.371	7.297	16.003	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	499.17	33	chr15	88530840	.	T	C	499.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.938e+00;DP=1723;ExcessHet=1.1607;FS=140.205;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.81;ReadPosRankSum=0.604;SOR=10.408	GT:AD:DP:GQ:PL	0/1:92,30:122:99:229,0,1944	15	0	5	1
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	0/1:43,22,0,0:65:99:539,0,1569,670,1635,2305,670,1635,2305,2305	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	0/1:43,22,0,0:65:99:539,0,1569,670,1635,2305,670,1635,2305,2305	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	0/1:43,22,0,0:65:99:539,0,1569,670,1635,2305,670,1635,2305,2305	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|2:0,11,22:33:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1417,880,840,467,0,392:89776889	0	0	0	0
chr15	89803917	89803917	G	C	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon6:c.C1265G:p.A422G	.	.	427	1083	12	0	0	12	0.00550964	.	.	726340	not_provided|ANPEP-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.996	D	0.969	D	0.000	D	0.999	D	2.615	M	4.15	T	-1.191	T	0.034	T	0.499	3.953	20.2	3.65	0.915	4.122	10.405	0.206	0.0259706140442	0.0015	0.00179712	0.0020	0.0005	0.0019	0	0.0021	0.0022	0.0022	0.0033	0.0019146	296	154602	rs144282919	0.0020	0.0020	0.0019	0.0021	0.0034	0.0019	0.0019	0.0031	0.0030	0.0003	0.0021	0.0003	2.519e-05	0.0026	0.0031	0.0020	0.0017	0.0034	0.0018	0.0018	0.0017	0.0018	0.0041	0.0016	0.0015	0.0027	0.0023	0.0007	0	0.0020	0	0	0.0019	0.0068	0.0024	0.0028	0.0041	0.016	0.51853	D	0.003	0.76473	D	0.996	0.68779	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	0.998813	0.45492	D	2.31	0.66127	M	4.15	0.02815	T	-3.41	0.67129	D	0.708	0.71143	-1.1912	0.00229	T	0.034	0.14596	T	10	0.027962267	0.00934	T	0.025971	0.48910	D	0.206	0.49396	.	.	0.5353919603	0.53189	0.5511601366670511	0.55042	0.826528018319	0.67431	0.403196841478	0.25514	T	0.298852	0.67140	T	-0.409085	0.02016	T	-0.362504	0.37763	T	0.0143330079449275	0.00286	T	0.865813	0.56549	D	0.8962787	0.91052	0.71628726	0.83254	0.8962787	0.91054	0.71628726	0.83255	-10.542	0.77088	D	.	.	0.223	0.45384	B	.	.	4.560386	0.71854	25.7	0.99685103855634227	0.79507	0.96040	0.67261	D	AEFDBCI	0.799146	0.72549	D	0.50535029227732	0.67405	5.077351	0.415320321123462	0.62519	4.468608	0.99999990718495	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.645312	0.48771	0	0.735409	0.98432	0	.	.	4.58	3.65	0.40985	4.272000	0.58705	5.077000	0.47232	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0982:0.0:0.9018:0.0	10.405	0.43434	451	0.79296	Peptidase M1, membrane alanine aminopeptidase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3455.11	38	chr15	89803917	.	G	C	3455.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.980e-01;DP=982;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-3.230e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/1:60,64:124:99:1686,0,1503	19	0	2	0
chr15	89805203	89805203	G	T	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon3:c.C772A:p.L258I	.	.	414	1096	12	0	0	12	0.00544465	.	.	726341	not_provided|ANPEP-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.47	T	0.005	B	0.016	B	0.000	N	1.000	N	0.295	N	4.24	T	-0.936	T	0.006	T	0.134	0.545	6.950	-3.78	-0.501	-2.741	2.453	0.021	0.00366820839329	0.0015	0.00159744	0.0019	0.0005	0.0017	0	0.0021	0.0021	0.0022	0.0031	0.0018305	283	154602	rs146926671	0.0019	0.0019	0.0018	0.0021	0.0034	0.0019	0.0019	0.0031	0.0030	0.0003	0.0017	0.0003	2.519e-05	0.0026	0.0031	0.0020	0.0017	0.0034	0.0018	0.0018	0.0017	0.0018	0.0048	0.0016	0.0015	0.0033	0.0028	0.0007	0	0.0016	0	0	0.0019	0.0068	0.0024	0.0028	0.0048	0.436	0.09374	T	0.497	0.11299	T	0.005	0.12996	B	0.016	0.17743	B	0.000000	0.00162	N	15.991200	1	0.08975	N	0.475	0.13142	N	4.24	0.02590	T	-0.02	0.07299	N	0.214	0.23884	-0.9357	0.43288	T	0.006	0.01944	T	10	0.0043984354	0.00089	T	0.003668	0.08464	T	0.021	0.04004	.	.	0.252681307341	0.24864	0.42566844532429726	0.42483	0.274924138337	0.29976	0.269383579493	0.06060	T	0.127907	0.45523	T	-0.66847	0.00056	T	-0.735093	0.04100	T	0.00379468395581677	0.00040	T	0.669833	0.27843	T	0.16779764	0.37198	0.03854443	0.03748	0.16779764	0.37198	0.03854443	0.03747	-3.983	0.23548	T	.	.	0.09	0.12607	B	.	.	-2.217674	0.00061	0.001	0.80936852884495825	0.13440	0.13072	0.17647	N	AEFGBCI	0.211760	0.33752	N	-1.34560822965062	0.03171	0.1411956	-1.40565723452777	0.03195	0.1485408	0.999439436612652	0.39683	0.67177	0.52595	0	0.573888	0.26702	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	4.42	-3.78	0.04049	-3.933000	0.00373	-13.273000	0.00469	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.41:0.1158:0.3576:0.1166	2.453	0.04248	448	0.79501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3360.11	33	chr15	89805203	.	G	T	3360.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.546e+00;DP=943;ExcessHet=0.1072;FS=0.944;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=2.00;SOR=0.614	GT:AD:DP:GQ:PL	0/1:64,68:132:99:1752,0,1782	19	0	2	0
chr15	90909460	90909460	C	T	exonic	MAN2A2	.	nonsynonymous SNV	MAN2A2:NM_006122:exon9:c.C1330T:p.R444W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.967	D	0.000	D	1.000	D	2.505	M	1.91	T	-0.757	T	0.171	T	0.549	4.065	20.9	4.81	1.422	3.091	13.677	0.297	0.074877631857	.	0.000199681	2.473e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs533695393	3.284e-05	3.352e-05	3.403e-05	3.163e-05	6.956e-05	2.543e-05	2.249e-05	2.995e-05	2.305e-05	0	2.236e-05	0	0	1.872e-05	0	3.507e-05	1.656e-05	6.956e-05	1.313e-05	1.312e-05	1.285e-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	0.002	0.72154	D	0.002	0.79402	D	0.998	0.73220	D	0.948	0.68536	D	0.000014	0.62929	D	0.113605	0.993785	0.81001	D	2.66	0.77858	M	1.91	0.23283	T	-5.1	0.83027	D	0.647	0.65844	-0.7573	0.57551	T	0.171	0.51181	T	10	0.3880512	0.54687	T	0.074878	0.72151	D	0.297	0.61730	0.596	0.72617	0.587872879989	0.58462	0.8861659850876773	0.88585	0.885982533807	0.69996	0.630673587322	0.57241	T	0.824705	0.95751	D	-0.204018	0.20227	T	-0.294166	0.45338	T	0.967939615249634	0.68074	D	0.970703	0.96434	D	0.7691214	0.81995	0.7917122	0.87751	0.7691214	0.81997	0.7917122	0.87752	-12.293	0.86248	D	.	.	0.186	0.55348	B	.;.;.	.;.;.	4.919604	0.81018	27.5	0.99895142767474399	0.96819	0.97568	0.75603	D	AEFDBI	0.406848	0.47917	N	0.621081797597444	0.74509	6.144911	0.57541408784043	0.73183	5.928797	0.999986251741613	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.74	4.81	0.61401	3.123000	0.50147	1.710000	0.28189	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.28:0.72:0.0:0.0	13.677	0.61936	639	0.64210	Glycoside hydrolase family 38, N-terminal domain;Glycoside hydrolase family 38, N-terminal domain;Glycoside hydrolase family 38, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1570.98	34	chr15	90909460	.	C	T	1570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=961;ExcessHet=0.0000;FS=2.944;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-1.719e+00;SOR=0.957	GT:AD:DP:GQ:PL	0/1:77,69:146:99:1585,0,1663	20	0	1	0
chr15	94399031	94399031	T	C	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001159644:exon7:c.T623C:p.I208T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.977	D	0.000	D	1.000	D	2.435	M	-0.05	T	0.271	D	0.582	D	0.932	4.015	20.6	5.37	2.038	5.655	15.387	0.783	0.119381004754	.	.	4.154e-05	0	0	0.0002	0	3.019e-05	0	6.095e-05	3.23e-05	5	154602	rs749725540	2.866e-06	2.738e-06	2.867e-06	2.865e-06	1.179e-05	6.7e-07	4.5e-07	7.6e-07	2.1e-07	0	0	0	0	0	0	2.852e-06	0	1.179e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0.0002	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	0.974	0.64738	D	0.959	0.73820	D	0.000000	0.84330	D	0.049645	0.999943	0.51968	D	2.625	0.76847	M	-0.77	0.73523	T	-4.4	0.79998	D	0.896	0.90138	0.271	0.87087	D	0.582	0.84955	D	10	0.82298005	0.81492	D	0.119381	0.79967	D	0.783	0.92787	0.551	0.66716	0.682740069428	0.68003	0.854472651593131	0.85410	0.142587795851	0.16085	0.695002555847	0.66424	T	0.485232	0.81221	T	0.162488	0.70430	D	0.260055	0.86094	D	0.829365253448486	0.48481	D	0.947205	0.79675	D	0.6759331	0.76751	0.66041696	0.80104	0.6759331	0.76752	0.66041696	0.80105	-13.405	0.90962	D	.	.	0.943	0.86244	P	.;.;.	.;.;.	4.510000	0.70621	25.5	0.99862710619670869	0.94093	0.96771	0.70851	D	AEFI	0.645957	0.62166	D	0.721996853339069	0.81075	7.438	0.688969717858763	0.81542	7.550916	0.912529131039958	0.26397	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.37	5.37	0.76949	5.256000	0.65286	7.839000	0.70444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.387	0.74428	975	0.05339	.;.;.	.	.	.	.	.	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	1030.98	33	chr15	94399031	.	T	C	1030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.362;DP=797;ExcessHet=0.0000;FS=0.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.258;SOR=0.538	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1045,0,1145	20	0	1	0
chr16	377699	377699	C	G	exonic	PGAP6	.	nonsynonymous SNV	PGAP6:NM_021259:exon2:c.G271C:p.A91P,	.	.	398	1086	36	2	0	40	0.0180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.001	B	0.002	B	0.197	N	1.000	N	-0.69	N	1.98	T	-0.968	T	0.010	T	0.071	0.102	4.550	-1.31	-0.269	0.367	4.711	0.011	.	0.0069	0.00379393	0.0154	0.0021	0.0153	0	0.0367	0.0191	0.0244	0.0141	0.0073802	1141	154602	rs150713114	0.0095	0.0095	0.0093	0.0097	0.0123	0.0094	0.0093	0.0117	0.0114	0.0012	0.0072	0.0352	0	0.0150	0.0120	0.0090	0.0110	0.0123	0.0074	0.0074	0.0074	0.0074	0.0100	0.0070	0.0069	0.0088	0.0085	0.0018	0	0.0082	0.0311	0	0.0104	0.0136	0.0094	0.0095	0.0100	0.369	0.11586	T	0.294	0.20745	T	0.001	0.07471	B	0.002	0.06944	B	0.197401	0.16688	N	0.566712	1	0.08975	N	-1.295	0.00719	N	1.98	0.21865	T	0.55	0.02721	N	0.085	0.06190	-0.9677	0.37673	T	0.010	0.03537	T	10	0.0029409826	0.00047	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.3079676341029533	0.30709	0.0497898335359	0.05457	0.269551903009	0.06083	T	0.001898	0.01308	T	-0.677833	0.00049	T	-0.736048	0.04059	T	0.000731414331925939	0.00007	T	0.424058	0.11326	T	0.023681097	0.01129	0.043248724	0.05338	0.023681097	0.01129	0.043248724	0.05338	-2.803	0.08211	T	.	.	0.059	0.00730	B	.	.	-0.578352	0.01631	0.113	0.43658381587674372	0.03302	0.00631	0.02773	N	AEFBI	0.051689	0.09157	N	-2.19746443301535	0.00078	0.003329799	-2.11476963220257	0.00173	0.007615846	0.0894516686923955	0.16085	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.55	-1.31	0.08749	0.711000	0.25436	1.859000	0.29309	-1.969000	0.00470	0.032000	0.20554	0.999000	0.35428	0.000000	0.00833	0.147:0.3094:0.4389:0.1047	4.711	0.12254	798	0.45050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4491.68	104	chr16	377699	.	C	G	4491.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.100e-02;DP=2018;ExcessHet=0.3300;FS=2.754;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.242;SOR=0.837	GT:AD:DP:GQ:PL	0/1:52,64:116:99:1498,0,1192	18	0	3	0
chr16	1338575	1338575	G	C	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon2:c.G26C:p.S9T	.	.	.	.	.	.	.	.	.	.	.	2377065	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.4	T	0.998	D	0.989	D	0.000	D	0.514	D	1.78	L	-0.85	T	-0.022	T	0.517	D	0.318	4.235	22.0	4.01	2.244	2.391	11.818	0.275	0.283425182867	.	.	4.3e-05	0	0	0	0	7.655e-05	0	0	2.59e-05	4	154602	rs778099100	2.949e-05	2.941e-05	3.138e-05	2.758e-05	0.0006	2.222e-05	1.975e-05	0.0001	7.971e-05	0.0001	0	0	0	0	0.0006	2.881e-05	4.98e-05	1.166e-05	1.975e-05	1.971e-05	2.573e-05	1.348e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.513748	0.31840	D	2.47	0.71715	M	-0.85	0.85875	T	-1.07	0.31170	N	0.438	0.57263	-0.0219	0.81800	T	0.517	0.81946	D	10	0.32610685	0.49912	T	0.283425	0.90312	D	0.275	0.59130	0.179	0.08626	0.919509768602	0.91869	0.5019554868937898	0.50117	0.4403143847	0.44044	0.58450371027	0.50719	T	0.015525	0.13004	T	-0.0946415	0.37309	T	-0.174729	0.57009	T	0.41522902704126	0.29513	T	0.79652	0.59504	T	0.53212565	0.68951	0.5074389	0.71533	0.53212565	0.68952	0.5074389	0.71533	-4.48	0.30836	T	.	.	0.274	0.54926	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.026005	0.59503	24.1	0.99635246520776688	0.76326	0.64570	0.32450	D	AEFDBCI	0.399949	0.47503	N	0.420743365747856	0.62563	4.474322	0.375531536611118	0.60061	4.189538	0.998531431432562	0.37148	0.533608	0.22052	0	0.61073	0.52368	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	4.01	4.01	0.45821	0.961000	0.28864	8.489000	0.77323	0.618000	0.50648	0.009000	0.18154	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	11.818	0.51495	872	0.31118	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1123.98	37	chr16	1338575	.	G	C	1123.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.730e-01;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=-1.349e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/1:69,51:120:99:1138,0,1673	20	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7188	9454.15	31	chr16	1397277	.	A	*,G	9454.15	.	AC=19,8;AF=0.594,0.250;AN=32;BaseQRankSum=1.91;DP=1633;ExcessHet=0.0731;FS=2.741;InbreedingCoeff=0.3875;MLEAC=24,10;MLEAF=0.750,0.313;MQ=59.56;MQRankSum=-2.830e-01;QD=10.82;ReadPosRankSum=1.63;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,41,0:81:99:.:.:1381,0,1247,1501,1386,2887	1	6	3	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	0/1:40,41,0:81:99:1381,0,1247,1501,1386,2887	8	6	2	4
chr16	1397281	1397281	-	GGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	exonic	UNKL	.	frameshift insertion	UNKL:NM_001193388:exon6:c.748_749insACAGCGTGAAGCACGGGGGTGGTGGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCC:p.P250Hfs*36	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0036	0	0	0	0.0123	0	0	.	.	.	.	0.0072	0.0076	0.0067	0.0078	0.0160	0.0071	0.0070	0.0121	0.0108	0.0013	0.0130	0.0177	4.298e-05	0.0111	0.0160	0.0069	0.0118	0.0097	0.0064	0.0087	0.0069	0.0058	0.0114	0.0059	0.0058	0.0105	0.0101	0.0016	0.0156	0.0080	0.0172	0	0.0022	0.0061	0.0114	0.0040	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	0/1:40,41,0:81:99:1381,0,1247,1501,1386,2887	8	6	2	4
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	0/3:5,0,0,5:10:99:184,199,403,199,403,403,0,204,204,189	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	0/3:5,0,0,5:10:99:184,199,403,199,403,403,0,204,204,189	12	1	6	0
chr16	2062988	2062988	G	A	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001318831:exon11:c.G778A:p.A260T	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	YES	0	1509	13	0	0	13	0.00428901	.	.	58822	Hereditary_cancer-predisposing_syndrome|not_provided|not_specified|Tuberous_sclerosis_syndrome|Tuberous_sclerosis_2	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.6	T	1.0	D	0.997	D	0.001	D	1.000	D	1.1	L	-1.35	T	-0.175	T	0.547	D	0.9	2.976	15.92	5.24	2.438	7.128	18.812	0.563	0.162465087376	0.0008	.	0.0024	0.0004	0	0	0	0.0054	0.0052	0.0001	0.0004786	74	154602	rs137854154	0.0007	0.0007	0.0007	0.0008	0.0108	0.0007	0.0007	0.0086	0.0078	3.166e-05	0.0004	0.0149	8.396e-05	0	0.0108	0.0004	0.0017	0.0001	0.0007	0.0007	0.0007	0.0008	0.0005	0.0006	0.0006	0.0004	0.0003	2.405e-05	0	0.0003	0.0161	0.0002	0	0.0442	0.0005	0.0014	0.0002	0.407	0.10245	T	0.587	0.08565	T	1.0	0.90584	D	0.997	0.86255	D	0.000544	0.43413	D	0.207417	0.99969	0.48338	D	1.645	0.42016	L	-1.35	0.80035	T	-0.43	0.19085	N	0.654	0.86085	-0.1755	0.78293	T	0.547	0.83379	D	10	0.009741873	0.00219	T	0.162465	0.84203	D	0.563	0.82118	.	.	0.812524160204	0.81076	0.16594122693251886	0.16514	.	.	0.491957485676	0.37710	T	0.328302	0.69873	T	0.0682677	0.60639	T	0.243502	0.85311	D	0.0603967384181006	0.07231	T	0.874113	0.58433	D	0.07935697	0.18124	0.07210155	0.15515	0.08406206	0.19439	0.07072015	0.15057	-5.549	0.42324	T	0.2994829771627527	0.39674	0.089	0.13127	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.493073	0.70201	25.5	0.99594259389761552	0.73807	0.94236	0.60528	D	AEFBHCI	0.792699	0.72092	D	0.402941493836061	0.61584	4.361499	0.435621694201341	0.63798	4.620965	0.999999999677212	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.292000	0.78084	8.524000	0.77433	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.133000	0.19684	0.0:0.0:1.0:0.0	18.812	0.92027	726	0.54788	Tuberin, N-terminal;Tuberin, N-terminal;Tuberin, N-terminal;.;.;Tuberin, N-terminal;Tuberin, N-terminal;Tuberin, N-terminal;.;.;Tuberin, N-terminal;.;Tuberin, N-terminal;Tuberin, N-terminal;Tuberin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	762.98	33	chr16	2062988	.	G	A	762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.400e-02;DP=777;ExcessHet=0.0000;FS=0.950;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-4.230e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/1:33,31:64:99:777,0,797	20	0	1	0
chr16	2530684	2530684	T	G	exonic	AMDHD2;CEMP1	.	nonsynonymous SNV	AMDHD2:NM_001145815:exon11:c.T1710G:p.D570E,	.	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.002	B	0.001	B	.	.	1.000	N	.	.	.	.	-1.016	T	0.064	T	0.01	0.102	4.551	-2.88	-0.825	-0.071	3.424	0.034	0.00705527406933	0.0005	.	0.0003	0.0001	0.0003	0	0	0.0005	0	0.0001	0.0003428	53	154602	rs200546798	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	0.0001	0.0003	0	0	7.497e-05	0.0002	0.0007	0.0010	9.275e-05	0.0003	0.0003	0.0004	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0001	0	0.0001	0	0	9.423e-05	0	0.0006	0	0	0.0	0.91255	D	.	.	.	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.01	0.07155	N	0.101	0.08366	-1.0157	0.25110	T	0.064	0.26456	T	7	0.023994029	0.00645	T	0.007055	0.18676	T	0.034	0.08419	0.175	0.08135	0.1749357433	0.17121	0.009634628841564331	0.00925	0.00420445280622	0.00371	0.302809298038	0.10821	T	.	.	.	-0.623531	0.00105	T	-0.742549	0.03784	T	0.00574736856896606	0.00063	T	0.19558	0.02146	T	.	.	.	.	.	.	.	.	-2.716	0.07438	T	.	.	0.098	0.16099	B	.	.	-0.107285	0.03600	0.705	0.47355509382007549	0.03865	0.03378	0.08480	N	AEFBCI	.	.	.	-1.43877813674111	0.02306	0.1016876	-1.57962143374074	0.01780	0.081014	0.999996785225001	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	1.96	-2.88	0.05342	-0.335000	0.07917	-1.085000	0.06377	-0.814000	0.03034	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2803:0.2169:0.5028	3.424	0.06974	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1631.98	37	chr16	2530684	.	T	G	1631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.243;DP=852;ExcessHet=0.0000;FS=3.167;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=2.13;SOR=0.459	GT:AD:DP:GQ:PL	0/1:65,64:129:99:1646,0,1779	20	0	1	0
chr16	4681761	4681761	G	C	exonic	MGRN1	.	nonsynonymous SNV	MGRN1:NM_001142289:exon12:c.G1277C:p.S426T	.	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.609	P	0.341	B	0.000	D	0.998	D	0.805	L	1.36	T	-1.105	T	0.053	T	0.035	-0.056	3.728	-0.291	0.104	1.292	6.381	0.042	0.020926345543	.	.	9.983e-05	0	9.101e-05	0	0	1.659e-05	0	0.0006	7.12e-05	11	154602	rs769483930	5.208e-05	5.199e-05	3.818e-05	6.612e-05	0.0007	4.265e-05	3.894e-05	0.0003	0.0003	0	8.958e-05	0	0	0	0.0007	1.35e-05	0.0002	0.0004	5.911e-05	5.909e-05	3.852e-05	8.066e-05	0.0004	3.076e-05	2.209e-05	0.0001	8.284e-05	0	0	0.0003	0	0	0	0	2.939e-05	0	0.0004	0.14	0.25664	T	0.366	0.20164	T	0.454	0.39586	P	0.197	0.42432	B	0.000414	0.44736	D	0.322570	0.998326	0.44771	D	1.7	0.43825	L	1.3	0.35590	T	-1.0	0.26422	N	0.261	0.33140	-1.1045	0.03588	T	0.053	0.22501	T	10	0.05583927	0.06166	T	0.020926	0.43616	T	0.042	0.11227	0.132	0.03662	0.173771789658	0.16945	0.35169590151705293	0.35083	0.0347031967724	0.03653	0.367655932903	0.20495	T	0.181141	0.53272	T	-0.506099	0.00528	T	-0.642786	0.09468	T	0.0479850810953752	0.05141	T	0.849315	0.53201	T	0.09086526	0.21275	0.067303315	0.13906	0.09086526	0.21274	0.067303315	0.13906	-3.823	0.22122	T	.	.	0.071	0.20780	B	.;.;.;.;.;.	.;.;.;.;.;.	1.372379	0.17825	13.39	0.62041207141825672	0.06861	0.85513	0.44653	D	AEFDBCI	0.452586	0.50608	N	-0.60187077948584	0.18888	0.9842668	-0.600923122901011	0.19469	1.044708	0.999921168459923	0.46280	0.67177	0.52595	0	0.697927	0.68747	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.33	-0.291	0.12207	1.294000	0.32971	1.843000	0.29202	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.2583:0.194:0.5478:0.0	6.381	0.20740	702	0.57624	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	865.98	46	chr16	4681761	.	G	C	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.530e-01;DP=779;ExcessHet=0.0000;FS=2.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=0.692;SOR=1.077	GT:AD:DP:GQ:PL	0/1:33,31:64:99:880,0,878	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	0/2:10,0,7,0,0:17:99:255,286,697,0,411,390,286,697,411,697,286,697,411,697,697	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	0/2:10,0,7,0,0:17:99:255,286,697,0,411,390,286,697,411,697,286,697,411,697,697	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	0/2:10,0,7,0,0:17:99:255,286,697,0,411,390,286,697,411,697,286,697,411,697,697	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	0/1:94,90,0:184:99:.:.:2281,0,2121,2563,2389,4952	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	0/1:116,51:167:98:98,0,1867	1	0	20	0
chr16	15092583	15092583	A	T	exonic	RRN3	.	nonsynonymous SNV	RRN3:NM_001301064:exon2:c.T121A:p.F41I	.	.	435	1080	7	0	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.999	D	0.996	D	0.000	U	1.000	D	0.55	N	0.78	T	-0.760	T	0.246	T	0.607	3.457	17.71	3.78	1.485	7.249	12.014	0.267	0.1119176956	0.0009	0.000399361	0.0011	9.654e-05	0.0004	0	0.0032	0.0013	0.0033	0.0012	0.0009702	150	154602	rs150087182	0.0013	0.0014	0.0013	0.0014	0.0016	0.0013	0.0013	0.0014	0.0014	5.977e-05	0.0006	0	0	0.0025	0.0012	0.0014	0.0010	0.0016	0.0009	0.0009	0.0009	0.0009	0.0017	0.0008	0.0008	0.0012	0.0011	7.213e-05	0	0.0003	0	0	0.0028	0	0.0014	0	0.0017	0.066	0.58626	T	0.016	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000033	0.55875	U	0.073760	1	0.81001	D	0.695	0.17993	N	0.78	0.64818	T	-1.42	0.46146	N	0.665	0.72299	-0.7596	0.57427	T	0.246	0.61506	T	10	0.018967181	0.00418	T	0.111918	0.78987	D	0.267	0.58126	.	.	0.729076668298	0.72667	0.6555393035927279	0.65489	0.82004380944	0.67116	0.568011641502	0.48396	T	0.129067	0.45712	T	-0.259441	0.12965	T	-0.15223	0.59046	T	0.0541908414942471	0.06222	T	0.834417	0.50357	T	0.13936517	0.32196	0.09549961	0.22653	0.13936517	0.32196	0.09549961	0.22653	-3.409	0.17467	T	.	.	0.161	0.35540	B	.;.;.;.;.	.;.;.;.;.	4.095015	0.61022	24.3	0.98562150874574928	0.42986	0.98806	0.87096	D	AEBI	0.822867	0.74310	D	0.247532225416644	0.53517	3.520188	0.267095466191024	0.53627	3.530811	0.999999981709966	0.74766	0.736574	0.97449	0	0.662677	0.63036	0	0.732669	0.93749	0	0.651492	0.60203	0	.	.	3.78	3.78	0.42629	7.440000	0.79607	7.917000	0.74325	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	1.0:0.0:0.0:0.0	12.014	0.52594	588	0.69043	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	971.33	34	chr16	15092583	.	A	T	971.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-8.210e-01;DP=721;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.75;MQRankSum=-2.140e-01;QD=12.61;ReadPosRankSum=0.148;SOR=0.621	GT:AD:DP:GQ:PL	0/1:37,40:77:99:985,0,916	19	0	1	1
chr16	15363700	15363700	G	T	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.C1012A:p.L338I,	.	.	477	1029	3	0	13	16	0.0014556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	.	.	.	.	.	.	1.000	N	0.345	N	0.81	T	-1.017	T	0.057	T	0.127	-0.920	0.397	.	.	0.075	.	0.047	.	.	0.0505192	2.003e-05	0	0	0.0002	0	1.746e-05	0	0	0.0097203	253	26028	rs527823489	5.255e-05	0.0002	4.093e-05	6.428e-05	0.0007	4.223e-05	3.869e-05	0.0004	0.0003	3.2e-05	0.0002	0	0.0007	5.98e-05	0	2.624e-05	7.646e-05	0.0001	0.0004	0.0022	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0003	0	0.0002	0.0006	0.0007	0.0006	0	0.0005	0	0.0005	0.233	0.18122	T	0.309	0.19782	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.84	0.01504	N	0.81	0.48460	T	-0.55	0.16799	N	0.131	0.12627	-1.0168	0.24755	T	0.057	0.23866	T	4	0.002976656	0.00048	T	.	.	.	0.047	0.12962	.	.	0.138757226776	0.13463	0.004372647717961943	0.00411	0.915822070405	0.71238	.	.	.	0.001687	0.01111	T	-0.306415	0.08069	T	-0.677921	0.07111	T	0.018812470270739	0.00592	T	0.285071	0.05059	T	0.12543179	0.29405	0.07566399	0.16681	0.12543179	0.29404	0.07566399	0.16681	-4.525	0.31214	T	.	.	0.089	0.12276	B	.	.	-0.234146	0.02921	0.425	0.75929779573027789	0.11266	0.00194	0.01121	N	AEFI	0.047871	0.08110	N	-0.687684925856888	0.16372	0.8335252	-0.791889517941179	0.14694	0.769087	1.64775418838586E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	-1.271000	0.02936	-10.382000	0.00708	-1.093000	0.01529	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	716	0.55970	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	639.98	33	chr16	15363700	.	G	T	639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=985;ExcessHet=0.0000;FS=0.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.28;MQRankSum=-7.718e+00;QD=6.46;ReadPosRankSum=-3.985e+00;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,24:99:99:0|1:15363700_G_T:654,0,3078:15363700	20	0	1	0
chr16	15363708	15363709	AC	-	exonic	NPIPA5	.	stoploss	NPIPA5:NM_001277325:exon8:c.1003_1004del:p.R89_90insRSNCRRQEGIKIVLEDIFTLWRQVETKVRAKIRKMKVTTKVNRHDKINGKRKTAKEHLRKLSMKEREHGEKERQVSEAEENGKLDMKEIHTYMEMFQRAQALRRRAEDYYRCKITPSARKPLCNRVRMAAVEHRHSSGLPYWPYLTAETLKNRMGHQPPPPTQQHSIIDNSLSLKTPSERLLYPLPPSADDNLKTPPECLLTPLPPSALPSADDNLKTPAECLLTPLPPSAPPSADDNLKTPPECLLTPLPPSADDNLKKLMKNK*,	.	.	474	1035	9	3	1	16	0.00719424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.985e-05	0	0	0.0004	0	3.475e-05	0	0.0003	3.84e-05	1	26028	rs762895556	7.11e-05	0.0002	7.074e-05	7.146e-05	0.0009	5.928e-05	5.502e-05	0.0006	0.0005	0	0.0003	4.439e-05	0.0009	5.932e-05	0	4.347e-05	5.664e-05	0.0001	0.0005	0.0026	0.0005	0.0005	0.0015	0.0004	0.0004	0.0005	0.0004	0.0004	0	0.0003	0.0006	0.0015	0.0007	0	0.0006	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	988.94	33	chr16	15363707	.	GAC	G	988.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.74;DP=1003;ExcessHet=0.0000;FS=5.200;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.77;MQRankSum=-6.470e+00;QD=8.45;ReadPosRankSum=-5.469e+00;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,35:117:99:0|1:15363700_G_T:1003,0,3339:15363700	20	0	1	0
chr16	17470643	17470643	C	T	exonic	XYLT1	.	nonsynonymous SNV	XYLT1:NM_022166:exon1:c.G154A:p.G52S,	Desbuquois dysplasia 2, Autosomal recessive	.	335	1186	1	0	0	1	0.000421408	.	.	573744	XYLT1-related_disorder|not_provided|Desbuquois_dysplasia_1	.|MedGen:C3661900|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450,Orphanet:1425	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.002	B	0.0	B	0.762	U	1.000	N	0	N	3.72	T	-0.904	T	0.008	T	0.118	0.798	8.199	0.456	-0.012	2.081	4.531	0.027	.	.	.	0.0083	0	0	0	0	0	0	0.0108	0.0001423	22	154602	rs766521030	0.0014	0.0012	0.0014	0.0014	0.0020	0.0014	0.0013	0.0016	0.0015	0.0002	0.0002	0	0	0	0	0.0015	0.0013	0.0020	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0007	0.0012	0.0012	0.0006	0	0.0002	0	0	0.0001	0	0.0015	0.0005	0.0017	0.2	0.20381	T	0.646	0.06836	T	0.002	0.09854	B	0.0	0.01387	B	0.762402	0.06548	U	1.272680	0.999997	0.08975	N	0	0.06538	N	3.72	0.04014	T	-0.02	0.07299	N	0.074	0.04790	-0.9040	0.47561	T	0.008	0.02720	T	10	0.004581392	0.00095	T	.	.	.	0.027	0.05988	.	.	0.0675242888579	0.06100	0.3027944210675014	0.30192	0.218589782326	0.24401	0.880343794823	0.94006	D	0.011955	0.10589	T	-0.644677	0.00078	T	-0.704978	0.05558	T	0.0144837201733808	0.00294	T	.	.	.	0.08412715	0.19459	0.10554958	0.25375	0.08412715	0.19458	0.10554958	0.25375	-5.719	0.43862	T	.	.	0.104	0.18705	B	.	.	2.191441	0.27940	17.63	0.9553868137550926	0.27183	0.03860	0.09219	N	AEFDBHCI	0.040586	0.06057	N	-1.09693957502039	0.06699	0.3091363	-1.12061787919747	0.07306	0.3549148	0.99994262170587	0.47345	0.455138	0.09556	0	0.552344	0.17405	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	1.62	0.456	0.15868	0.110000	0.15273	2.751000	0.34535	0.259000	0.18387	0.002000	0.15269	1.000000	0.68203	0.092000	0.17891	0.0:0.7681:0.0:0.2319	4.531	0.11411	968	0.07033	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	379.98	18	chr16	17470643	.	C	T	379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.909e+00;DP=494;ExcessHet=0.0000;FS=7.231;InbreedingCoeff=-0.0249;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=0.417;SOR=1.773	GT:AD:DP:GQ:PL	0/1:8,18:26:99:394,0,210	20	0	1	0
chr16	18520877	18520877	T	C	exonic	NOMO2	.	nonsynonymous SNV	NOMO2:NM_001004060:exon19:c.A2161G:p.R721G	.	.	420	1089	13	0	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.993	D	0.787	P	0.000	D	1.000	D	0	N	3.64	T	-0.793	T	0.013	T	0.768	1.532	11.08	2.22	0.438	0.935	9.019	0.187	0.0279802166945	.	.	0.0008	0.0001	0.0002	0	0	0.0007	0.0033	0.0028	3.84e-05	1	26028	rs749051082	0.0005	0.0007	0.0004	0.0005	0.0051	0.0004	0.0004	0.0036	0.0031	5.975e-05	0.0003	0.0008	0	0	0.0051	0.0004	0.0007	0.0021	0.0003	0.0005	0.0004	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.809e-05	0	0.0003	0.0003	0	0	0.0068	0.0005	0.0009	0.0010	0.158	0.26629	T	0.013	0.92824	D	0.014	0.16867	B	0.009	0.14300	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0	0.06538	N	3.64	0.04399	T	-0.95	0.25332	N	0.837	0.86941	-0.7935	0.55526	T	0.013	0.05033	T	10	0.08753258	0.14987	T	0.02798	0.50720	D	0.187	0.46274	.	.	0.31077124679	0.30691	0.6336783096815357	0.63301	.	.	0.594283103943	0.52098	T	0.007539	0.06940	T	-0.347144	0.04909	T	-0.276973	0.47115	T	0.0347181973874079	0.02761	T	0.956104	0.83775	D	0.2227827	0.44885	0.1551629	0.36384	0.2227827	0.44885	0.1551629	0.36383	-5.099	0.41284	T	.	.	0.182	0.42906	B	.;.;.;.;.	.;.;.;.;.	2.522562	0.32602	19.09	0.97507598280086194	0.34331	0.75480	0.36958	D	AEFI	0.455969	0.50803	N	-0.365101523926914	0.26721	1.460499	-0.298532606994092	0.28146	1.567075	5.2496797031966E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.37	2.22	0.27116	1.235000	0.32274	1.258000	0.25213	0.319000	0.19345	1.000000	0.71638	1.000000	0.68203	0.651000	0.32720	0.0:0.0:0.1872:0.8128	9.019	0.35351	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	968.98	39	chr16	18520877	.	T	C	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.900e-01;DP=1210;ExcessHet=0.0000;FS=1.111;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=32.81;MQRankSum=-7.120e-01;QD=3.60;ReadPosRankSum=1.12;SOR=0.597	GT:AD:DP:GQ:PL	0/1:205,64:269:99:983,0,4930	20	0	1	0
chr16	22309031	22309031	C	T	exonic	POLR3E	.	nonsynonymous SNV	POLR3E:NM_001258034:exon4:c.C164T:p.T55M	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.94	D	0.000	D	1.000	D	2.34	M	0.77	T	-0.448	T	0.307	T	0.732	3.933	20.1	5.68	2.684	5.379	18.557	0.219	0.0322927546995	.	.	4.156e-05	0	0.0002	0	0.0002	0	0	0.0001	3.23e-05	5	154602	rs771336397	4.596e-05	4.652e-05	4.096e-05	5.101e-05	0.0010	3.672e-05	3.356e-05	0.0005	0.0003	2.994e-05	2.24e-05	0	0.0002	0	0.0010	1.804e-05	4.978e-05	0.0003	4.6e-05	4.597e-05	6.423e-05	2.691e-05	0.0004	2.109e-05	1.527e-05	7.285e-05	3.027e-05	9.651e-05	0	6.546e-05	0	0	0	0	0	0	0.0004	0.077	0.43708	T	0.052	0.61642	T	0.999	0.77913	D	0.94	0.67560	D	0.000011	0.62929	D	0.148023	0.999974	0.53665	D	2.7	0.79018	M	0.77	0.49642	T	-2.39	0.57762	N	0.654	0.68082	-0.4483	0.70456	T	0.307	0.67749	T	10	0.33992898	0.51070	T	0.032293	0.54161	D	0.219	0.51417	0.612	0.74535	0.773445237949	0.77136	0.5048416891517822	0.50406	1.14632707793	0.79085	0.617921113968	0.55436	T	0.086642	0.54048	T	-0.109071	0.34921	T	-0.115015	0.62210	T	0.30562181763757	0.25234	T	.	.	.	0.078986086	0.18019	0.12385482	0.29861	0.078986086	0.18019	0.12385482	0.29860	-7.214	0.55603	T	.	.	0.115	0.29060	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.916700	0.80938	27.4	0.99894625864747266	0.96819	0.95725	0.65889	D	AEFDBCI	0.539182	0.55626	D	0.732767236439897	0.81779	7.603109	0.702235702939528	0.82549	7.794436	0.999899784981878	0.45129	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	5.615000	0.67382	4.846000	0.45329	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	18.557	0.91042	463	0.78548	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1642.98	35	chr16	22309031	.	C	T	1642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.361;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=-4.200e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/1:80,74:154:99:1657,0,1754	20	0	1	0
chr16	29383301	29383301	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1631G:p.H544R,	.	.	539	915	66	2	0	70	0.0368421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	.	.	.	.	.	.	1.000	N	0	N	2.37	T	-0.953	T	0.015	T	0.016	-1.688	0.012	.	.	.	.	0.123	0.102607754237	.	.	0.0034	0.0006	0.0027	0.0010	0.0051	0.0041	0.0070	0.0029	0.0001153	3	26028	rs376109229	0.0004	0.0045	0.0004	0.0004	0.0008	0.0004	0.0004	0.0004	0.0004	0.0002	0.0006	0.0016	0.0002	0.0011	0.0008	0.0003	0.0005	0.0006	0.0008	0.0028	0.0007	0.0008	0.0010	0.0006	0.0006	0.0008	0.0007	0.0004	0	0.0010	0.0004	0	0.0010	0.0052	0.0010	0.0006	0.0003	0.714	0.03996	T	0.893	0.03108	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.49	0.02651	N	2.37	0.15964	T	0.3	0.04091	N	0.065	0.03726	-0.9529	0.40468	T	0.015	0.06282	T	4	0.010405421	0.00232	T	0.102608	0.77617	D	0.123	0.34020	0.182	0.09004	0.0666544352282	0.05500	0.017460914292579344	0.01701	.	.	.	.	.	0.002187	0.01585	T	-0.441885	0.01260	T	-0.872514	0.00719	T	0.00853633190419786	0.00104	T	0.472453	0.14032	T	0.05944767	0.12081	0.08600925	0.19898	0.05944767	0.12081	0.08600925	0.19897	0.7	0.00176	T	.	.	0.119	0.24498	B	.	.	-0.050767	0.03944	0.880	0.27293411967531173	0.01348	0.00096	0.00628	N	AEFI	0.029149	0.02698	N	-0.519074859421896	0.21463	1.139253	-0.565229626340505	0.20402	1.099045	1.09648973830877E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	.	.	.	-1.331000	0.02779	-1.556000	0.05178	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	63.33	42	chr16	29383301	.	T	C	63.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.21;DP=1385;ExcessHet=0.0000;FS=21.340;InbreedingCoeff=-0.0374;MLEAC=1;MLEAF=0.025;MQ=52.82;MQRankSum=-1.098e+00;QD=0.34;ReadPosRankSum=-3.006e+00;SOR=2.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,14:184:77:0|1:29383231_G_T:77,0,6703:29383231	19	0	1	1
chr16	29383427	29383427	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1505G:p.H502R,	.	.	674	809	29	8	2	47	0.0270595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	.	.	.	.	.	.	1.000	N	0	N	2.39	T	-0.953	T	0.015	T	0.018	-1.379	0.025	.	.	.	.	0.101	.	.	.	0.0826	0.5	0	.	0	0.0484	0	0.1630	7.68e-05	2	26028	rs77403205	0.0033	0.0031	0.0028	0.0037	0.0300	0.0031	0.0030	0.0265	0.0251	0.0033	0.0087	0.0022	0.0300	0.0016	0.0018	0.0014	0.0027	0.0086	0.0009	0.0005	0.0013	0.0006	0.0012	0.0003	0.0001	0.0002	8.718e-05	0	0	0	0.0111	0	0	0	0.0012	0	0	0.862	0.02658	T	0.416	0.14284	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	2.39	0.15724	T	0.98	0.01447	N	0.022	0.00372	-0.9531	0.40433	T	0.015	0.06282	T	4	0.0016781092	0.00021	T	.	.	.	0.101	0.28911	0.155	0.05858	.	.	0.018486071411131396	0.01802	.	.	.	.	.	0.002524	0.01914	T	-0.454797	0.01058	T	-0.891061	0.00568	T	0.0150007129087241	0.00322	T	0.428457	0.11587	T	0.051112827	0.09338	0.10343577	0.24818	0.051112827	0.09337	0.10343577	0.24817	0.315	0.00255	T	.	.	0.091	0.13174	B	.	.	-0.130205	0.03466	0.643	0.31851799518974977	0.01816	0.00096	0.00628	N	AEFDI	0.031964	0.03522	N	-0.523483715401697	0.21323	1.130716	-0.568996682795784	0.20303	1.093282	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.601575	0.49859	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	.	.	.	-0.909000	0.04167	-2.619000	0.03542	-2.558000	0.00246	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1029.26	13	chr16	29383427	.	T	C	1029.26	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-7.310e-01;DP=1336;ExcessHet=0.0082;FS=24.193;InbreedingCoeff=0.3747;MLEAC=4;MLEAF=0.100;MQ=48.93;MQRankSum=0.357;QD=16.87;ReadPosRankSum=-2.268e+00;SOR=3.094	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,23:25:22:1|1:29383427_T_C:627,22,0:29383427	17	1	2	1
chr16	29383437	29383437	G	T	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C1495A:p.P499T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	P	1.32	L	2.27	T	-0.988	T	0.053	T	0.075	0.989	9.037	.	.	.	.	0.086	0.013040640946	.	.	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs796341971	0.0035	0.0005	0.0036	0.0034	0.0349	0.0032	0.0031	0.0244	0.0209	0.0250	0.0068	0.0021	0.0349	0.0016	0	0.0017	0.0060	0.0068	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.044	0.41096	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	1.965	0.53209	M	2.27	0.17431	T	-2.26	0.50502	N	0.085	0.06190	-0.9877	0.33175	T	0.053	0.22578	T	3	0.004444927	0.00091	T	0.013041	0.32127	T	0.086	0.25016	0.261	0.20473	0.128392430309	0.12331	0.04811201458583903	0.04754	.	.	.	.	.	0.062	0.31906	T	-0.670881	0.00054	T	-0.719531	0.04818	T	0.0103741038023816	0.00142	T	0.770923	0.40135	T	0.08623104	0.20036	0.13485615	0.32304	0.08623104	0.20036	0.13485615	0.32303	-4.477	0.30586	T	.	.	0.222	0.45261	B	.	.	1.461296	0.18836	13.95	0.9914587383974085	0.53682	0.00144	0.00877	N	AEFDI	0.034136	0.04175	N	-0.186021118236797	0.33715	1.916004	-0.3111444491505	0.27738	1.541	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.601575	0.49859	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	.	.	.	0.283000	0.18605	-0.295000	0.10161	0.285000	0.18709	0.004000	0.16614	0.000000	0.08366	0.005000	0.06747	.	.	.	774	0.48577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	276.9	302	chr16	29383437	.	G	T	276.9	.	AC=2;AF=1.00;AN=2;BaseQRankSum=1.83;DP=1589;ExcessHet=0.0000;FS=7.404;InbreedingCoeff=0.3332;MLEAC=6;MLEAF=1.00;MQ=49.52;MQRankSum=-6.600e-01;QD=25.17;ReadPosRankSum=0.431;SOR=4.615	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,9:11:7:1|1:29383427_T_C:269,7,0:29383427	0	1	0	20
chr16	29383627	29383627	A	0	exonic	NPIPB11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2296.18	77	chr16	29383627	.	A	G,*	2296.18	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=2.03;DP=1184;ExcessHet=0.0208;FS=58.039;InbreedingCoeff=0.4285;MLEAC=11,1;MLEAF=0.275,0.025;MQ=35.46;MQRankSum=-8.430e-01;QD=5.36;ReadPosRankSum=-3.321e+00;SOR=3.437	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,4,0:4:12:.:.:129,12,0,129,12,129	11	3	5	1
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	807.49	39	chr16	29485668	.	C	*,G	807.49	.	AC=12,2;AF=0.286,0.048;AN=42;BaseQRankSum=-3.277e+00;DP=2501;ExcessHet=14.4320;FS=3.279;InbreedingCoeff=-0.5000;MLEAC=12,2;MLEAF=0.286,0.048;MQ=29.15;MQRankSum=-1.177e+00;QD=0.44;ReadPosRankSum=-2.008e+00;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,35,0:106:99:0|1:29485610_ACACACTC_A:452,0,2485,668,2569,3236:29485610	7	0	12	0
chr16	29810106	29810114	GCAGCGGCA	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.394_402del:p.A141_A143del	.	.	329	1048	62	5	78	150	0.0332103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0125	.	0.0097	0.0014	0.0019	0.0059	0.0005	0.0013	0.015	0.0587	3.23e-05	5	154602	rs760562143	0.0044	0.0044	0.0028	0.0060	0.0564	0.0043	0.0043	0.0550	0.0545	0.0009	0.0018	0.0003	0.0031	0.0009	0.0146	0.0009	0.0055	0.0564	0.0034	0.0034	0.0026	0.0042	0.0571	0.0032	0.0031	0.0514	0.0492	0.0010	0	0.0032	0	0.0063	0.0009	0.0252	0.0014	0.0063	0.0571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2061.94	35	chr16	29810105	.	GGCAGCGGCA	G	2061.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.020e-01;DP=841;ExcessHet=0.0000;FS=0.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.04;ReadPosRankSum=-1.400e-02;SOR=0.608	GT:AD:DP:GQ:PL	0/1:65,56:121:99:2076,0,2512	20	0	1	0
chr16	29810109	29810117	GCGGCAGCG	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.397_405del:p.A141_A143del	.	.	326	1004	17	0	175	192	0.00839506	.	.	2807783	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0259	.	0.0042	0.0042	0.0036	0.0083	0.0010	0.0043	0.0013	0.0038	6.47e-05	10	154602	rs780065474	0.0028	0.0028	0.0028	0.0029	0.0230	0.0028	0.0027	0.0196	0.0183	0.0044	0.0043	0.0060	0.0041	0.0012	0.0230	0.0025	0.0043	0.0038	0.0032	0.0032	0.0034	0.0030	0.0086	0.0029	0.0029	0.0066	0.0059	0.0032	0	0.0061	0.0045	0.0086	0.0009	0.0188	0.0024	0.0030	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1597.03	35	chr16	29810108	.	AGCGGCAGCG	A,*	1597.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.417;DP=899;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=8.03;ReadPosRankSum=-2.509e+00;SOR=0.713	GT:AD:DP:GQ:PL	0/2:65,0,56:121:99:2076,2271,4953,0,2681,2512	19	0	1	0
chr16	29810108	29810117	AGCGGCAGCG	0	exonic	MAZ	.	.	.	.	.	326	1004	17	0	175	192	0.00839506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1597.03	35	chr16	29810108	.	AGCGGCAGCG	A,*	1597.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.417;DP=899;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=8.03;ReadPosRankSum=-2.509e+00;SOR=0.713	GT:AD:DP:GQ:PL	0/2:65,0,56:121:99:2076,2271,4953,0,2681,2512	19	0	1	0
chr16	29813466	29813466	C	G	exonic	PRRT2	.	nonsynonymous SNV	PRRT2:NM_001256442:exon2:c.C412G:p.P138A	Convulsions, familial infantile, with paroxysmal choreoathetosis, Autosomal dominant;Episodic kinesigenic dyskinesia 1, Autosomal dominant;Seizures, benign familial infantile, 2, Autosomal dominant	.	0	1507	15	0	0	15	0.00495213	.	.	135484	not_provided|Episodic_kinesigenic_dyskinesia_1|not_specified|Episodic_kinesigenic_dyskinesia|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200,Orphanet:98809|MedGen:CN169374|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200,Orphanet:98809|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.13	T	0.019	B	0.013	B	0.788	N	0.995	N	0.55	N	0.43	T	-1.098	T	0.006	T	0.215	0.995	9.064	-0.297	0.197	-0.071	3.995	0.032	.	0.0014	0.0295527	0.0174	0.0028	0.0668	0.0979	0.0026	0.0007	0.0135	0.0228	0.0159054	2459	154602	rs79182085	0.0078	0.0078	0.0075	0.0080	0.1455	0.0077	0.0076	0.1424	0.1411	0.0010	0.0571	0	0.1455	0.0024	0.0028	0.0004	0.0080	0.0232	0.0079	0.0080	0.0067	0.0092	0.1012	0.0076	0.0074	0.0940	0.0912	0.0019	0	0.0265	0	0.1012	0.0024	0	0.0006	0.0080	0.0240	0.022	0.49117	D	0.029	0.54541	D	0.001	0.17989	B	0.001	0.16460	B	0.787771	0.09421	N	0.893166	0.994714	0.23459	N	1.445	0.36358	L	-0.63	0.74265	T	-0.33	0.19933	N	0.194	0.25745	-1.0983	0.04303	T	0.006	0.02055	T	10	0.001377523	0.00015	T	.	.	.	0.032	0.07718	.	.	.	.	0.039453504209102916	0.03891	0.270967634394	0.29621	0.319753050804	0.13383	T	0.009471	0.08620	T	-0.535628	0.00356	T	-0.398349	0.33576	T	0.000297025384191556	0.00002	T	0.721828	0.33531	T	0.07019904	0.15442	0.070397034	0.14952	0.04540043	0.07424	0.072905704	0.15783	-5.665	0.43479	T	0.1099383838119479	0.09235	0.064	0.04002	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.423944	0.18411	13.72	0.84130369696714713	0.15114	0.10893	0.16265	N	AEFBI	0.102383	0.20540	N	-0.791199834361241	0.13538	0.667666	-0.751181007533119	0.15693	0.8266299	0.999583868652927	0.40607	0.766844	0.99359	0	0.626922	0.53725	0	0.851219	0.99655	0	0.604944	0.38103	0	.	.	4.29	-0.297	0.12185	0.229000	0.17614	0.016000	0.13516	0.580000	0.29708	0.000000	0.06391	0.598000	0.25705	0.968000	0.53726	0.0:0.5136:0.1766:0.3098	3.995	0.09046	260	0.89800	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	850.98	34	chr16	29813466	.	C	G	850.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.264e+00;DP=767;ExcessHet=0.0000;FS=3.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-2.003e+00;SOR=0.346	GT:AD:DP:GQ:PL	0/1:35,35:70:99:865,0,966	20	0	1	0
chr16	30112751	30112751	C	G	exonic	GDPD3	.	nonsynonymous SNV	GDPD3:NM_024307:exon3:c.G225C:p.Q75H,	.	.	419	1094	8	1	0	10	0.00454959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.002	B	0.005	B	0.000	N	0.794	N	0.59	N	2.64	T	-0.954	T	0.017	T	0.22	-0.858	0.530	0.963	0.237	-0.344	8.196	0.063	.	7.7e-05	0.0161741	0.0079	0	0.0008	0	0	3.053e-05	0.0112	0.0558	0.0068757	1063	154602	rs375485050	0.0034	0.0034	0.0019	0.0050	0.0545	0.0033	0.0033	0.0532	0.0527	0.0002	0.0001	3.827e-05	0.0002	0	0.0021	3.957e-05	0.0035	0.0545	0.0019	0.0020	0.0010	0.0029	0.0600	0.0018	0.0017	0.0543	0.0521	0.0001	0	0	0	0.0002	0	0	0	0	0.0600	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.005	0.11217	B	0.000493	0.43931	N	0.239919	0.793514	0.29198	N	0.11	0.08516	N	2.64	0.12780	T	3.8	0.00066	N	0.221	0.24758	-0.9536	0.40345	T	0.017	0.06855	T	10	0.004280716	0.00086	T	.	.	.	0.063	0.18251	0.625	0.76028	0.223847106136	0.22009	0.8072162313784973	0.80676	0.19774465149	0.22142	0.309840738773	0.11883	T	0.003442	0.02849	T	-0.632709	0.00092	T	-0.642143	0.09514	T	0.000650241616935696	0.00006	T	0.878012	0.59262	D	0.079382144	0.18133	0.05962705	0.11224	0.079382144	0.18132	0.05962705	0.11223	-4.357	0.28968	T	.	.	0.166	0.36653	B	.	.	0.355082	0.07282	3.886	0.62003030266386105	0.06852	0.22976	0.21925	N	AEFDGBHCI	0.120741	0.23506	N	-0.756391999931643	0.14460	0.7204837	-0.625564516550365	0.18837	1.00806	0.999999999954965	0.74766	0.653496	0.48692	0	0.858003	0.99906	0	0.535252	0.11790	0	0.683535	0.66460	0	.	.	5.57	0.963	0.18769	0.009000	0.13117	-0.510000	0.08751	-0.217000	0.08171	0.978000	0.35038	0.031000	0.21272	0.524000	0.29567	0.2936:0.4213:0.2851:0.0	8.196	0.30556	140	0.94439	Glycerophosphodiester phosphodiesterase domain|Glycerophosphodiester phosphodiesterase 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	1391.98	42	chr16	30112751	.	C	G	1391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.510e-01;DP=857;ExcessHet=0.0000;FS=0.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=0.032;SOR=0.593	GT:AD:DP:GQ:PL	0/1:61,57:118:99:1406,0,1525	20	0	1	0
chr16	30525595	30525595	T	C	exonic	ZNF768	.	nonsynonymous SNV	ZNF768:NM_024671:exon2:c.A545G:p.E182G,	.	.	426	1048	47	1	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.131	B	0.039	B	0.000	D	0.537	N	0	N	3.18	T	-1.014	T	0.012	T	0.39	2.384	13.93	3.94	0.917	0.479	10.160	0.075	.	0.0026	0.00439297	0.0039	0.0038	0.0010	0.0001	0.0002	0.0025	0.0077	0.0150	0.0035316	546	154602	rs61735343	0.0025	0.0025	0.0021	0.0029	0.0150	0.0024	0.0024	0.0144	0.0141	0.0030	0.0010	0.0012	5.038e-05	0.0008	0.0076	0.0017	0.0030	0.0150	0.0029	0.0029	0.0028	0.0030	0.0155	0.0027	0.0026	0.0127	0.0117	0.0037	0	0.0017	0.0012	0	0.0007	0.0102	0.0025	0.0033	0.0155	0.001	0.78490	D	0.199	0.27679	T	0.131	0.27154	B	0.039	0.23607	B	0.000284	0.46274	D	0.000000	0.536829	0.31445	N	0.695	0.17993	N	3.18	0.07711	T	-0.89	0.24026	N	0.186	0.20262	-1.0139	0.25688	T	0.012	0.04558	T	10	0.0043001175	0.00087	T	.	.	.	0.075	0.21907	.	.	0.082315109003	0.07666	0.37202124606213827	0.37116	0.807358794691	0.66551	0.405187904835	0.25790	T	0.007683	0.07071	T	-0.499077	0.00578	T	-0.476692	0.24798	T	0.0276702102265299	0.01641	T	0.630337	0.24523	T	0.20003097	0.41964	0.1916817	0.42640	0.20003097	0.41964	0.1916817	0.42639	-4.114	0.25496	T	.	.	0.089	0.31733	B	.;.	.;.	1.973226	0.25064	16.63	0.99829335475869052	0.91112	0.69092	0.34052	D	AEFDBCI	0.181558	0.30888	N	-0.479766409328176	0.22745	1.216644	-0.309602595949851	0.27787	1.544414	0.999990811413327	0.74766	0.695654	0.57023	0	0.606735	0.50208	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.06	3.94	0.44807	0.000000	0.12910	1.452000	0.26614	0.665000	0.62972	0.005000	0.17040	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.1678:0.8322	10.160	0.42020	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	0.02381	350.98	37	chr16	30525595	.	T	C	350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.081e+00;DP=960;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.77;ReadPosRankSum=0.663;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,16:40:99:0|1:30525595_T_C:365,0,960:30525595	20	0	1	0
chr16	31076950	31076950	A	C	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.A626C:p.N209T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.999	D	0.961	D	.	.	0.746	D	1.04	L	3.19	T	-1.016	T	0.042	T	0.254	3.382	17.41	5.92	2.263	6.094	15.347	0.132	0.00563634023875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.91255	D	0.011	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	.	.	.	.	0.745707	0.33872	D	2.175	0.60977	M	3.1	0.08283	T	-2.25	0.50337	N	0.455	0.49237	-1.0161	0.24980	T	0.042	0.17994	T	9	0.2752136	0.45079	T	0.005636	0.14560	T	0.132	0.35948	0.227	0.15257	0.515259903717	0.51168	0.4050556992899627	0.40421	0.745244495564	0.63480	0.745844304562	0.73833	T	0.03682	0.24246	T	-0.179911	0.23749	T	-0.496206	0.22742	T	0.875014901161194	0.52488	D	0.755524	0.38711	T	0.16358797	0.36510	0.21670878	0.46308	0.16358797	0.36509	0.21670878	0.46307	-3.027	0.10475	T	.	.	0.527	0.68123	A	.;.;.	.;.;.	3.721802	0.53189	23.3	0.99502815887965335	0.68147	0.97429	0.74694	D	AEFDBCI	0.575422	0.57782	D	0.539262164566397	0.69429	5.355856	0.587058056165243	0.74012	6.065137	0.999999470331451	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.92	5.92	0.95557	0.407000	0.20770	.	.	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	15.347	0.74064	41	0.97903	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	964.98	34	chr16	31076950	.	A	C	964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=833;ExcessHet=0.0000;FS=0.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-4.920e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/1:46,34:80:99:979,0,1188	20	0	1	0
chr16	31361187	31361187	T	A	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon9:c.T986A:p.L329Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	.	.	0.996	D	3.785	H	-2.13	D	0.914	D	0.847	D	0.817	4.305	22.6	5.07	2.040	6.017	12.647	0.808	0.0801954331762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767778307	6.846e-07	6.84e-07	1.362e-06	0	2.245e-05	0	0	.	.	0	2.245e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.99561	0.42773	D	3.89	0.96051	H	-2.13	0.86349	D	-5.64	0.86914	D	0.864	0.86085	0.914	0.95869	D	0.847	0.94891	D	9	0.9698998	0.96560	D	0.080195	0.73405	D	0.808	0.93777	0.854	0.95434	0.915887042927	0.91504	0.9694184572018145	0.96929	0.784066996739	0.65421	0.600350499153	0.52953	T	0.825819	0.95789	D	0.263655	0.79866	D	0.223811	0.84367	D	0.9824352424892	0.74489	D	0.959104	0.84591	D	0.9405396	0.95302	0.877246	0.93369	0.9405396	0.95303	0.877246	0.93370	-15.085	0.96048	D	.	.	0.908	0.83302	P	.;.	.;.	5.076869	0.84710	28.4	0.99608178535918246	0.74634	0.95234	0.63935	D	AEFDBI	0.730370	0.67778	D	0.858466366864706	0.89586	10.03246	0.754053755029323	0.86458	8.89609	0.999999588206404	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.07	5.07	0.68106	6.256000	0.72433	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	12.647	0.56103	287	0.88635	von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	571.98	35	chr16	31361187	.	T	A	571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.105;DP=770;ExcessHet=0.0000;FS=3.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.67;ReadPosRankSum=-1.510e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/1:40,26:66:99:586,0,1000	20	0	1	0
chr16	46595649	46595649	G	A	exonic	SHCBP1	.	nonsynonymous SNV	SHCBP1:NM_001324319:exon9:c.C1133T:p.T378M	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.808	P	0.34	B	0.009	N	1.000	N	1.67	L	-1.53	D	-0.505	T	0.362	T	0.433	1.385	10.56	4.03	2.085	1.332	6.478	0.329	0.0310935631243	.	.	5.781e-05	0	0	0.0002	0	4.507e-05	0	0.0001	4.53e-05	7	154602	rs773704460	2.6e-05	2.599e-05	1.77e-05	3.438e-05	0.0002	1.933e-05	1.692e-05	2.375e-05	1.43e-05	8.962e-05	0	0	0	0	0.0002	1.529e-05	0.0002	5.8e-05	0.0001	0.0001	0.0002	4.035e-05	0.0008	7.091e-05	5.747e-05	0.0005	0.0004	7.237e-05	0	0.0008	0	0	0	0	1.47e-05	0.0005	0	0.01	0.56456	D	0.04	0.50809	D	0.808	0.45299	P	0.34	0.42389	B	0.009222	0.30456	N	0.376195	0.999998	0.08975	N	1.955	0.52871	M	-1.53	0.81559	D	-2.66	0.56945	D	0.645	0.65673	-0.5052	0.68461	T	0.362	0.72322	T	10	0.5437985	0.63868	D	0.031094	0.53261	D	0.329	0.65126	0.482	0.56302	0.944421479554	0.94383	0.7041827561695405	0.70360	0.309715011128	0.33285	0.569725751877	0.48639	T	0.18153	0.53324	T	-0.103883	0.35782	T	-0.183398	0.56207	T	0.0791323618660946	0.09875	T	0.89721	0.64041	D	0.06994099	0.15364	0.09965288	0.23801	0.06994099	0.15364	0.09965288	0.23800	-5.123	0.38148	T	.	.	0.082	0.08851	B	.	.	2.929142	0.38908	20.8	0.9847039825255326	0.41849	0.20610	0.21104	N	AEFBI	0.092978	0.18818	N	-0.133254279256919	0.35950	2.071532	-0.228897339132752	0.30505	1.718182	0.466271622622559	0.20668	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.03	4.03	0.46115	1.593000	0.36297	7.007000	0.57217	0.585000	0.30472	0.241000	0.24758	1.000000	0.68203	0.583000	0.30967	0.093:0.0:0.7257:0.1813	6.478	0.21244	376	0.83959	Right handed beta helix 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	1685.98	36	chr16	46595649	.	G	A	1685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.454;DP=813;ExcessHet=0.0000;FS=3.475;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=1.69;SOR=0.440	GT:AD:DP:GQ:PL	0/1:48,70:118:99:1700,0,1049	20	0	1	0
chr16	48200470	48200470	G	A	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon14:c.C1888T:p.R630W	.	.	0	1518	4	0	0	4	0.00131579	.	.	726652	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	N	1.000	D	3.22	M	-1.53	D	0.018	D	0.568	D	0.747	3.969	20.3	1.19	0.316	0.691	4.138	0.594	0.0613049088917	0.0056	0.00259585	0.0040	0.0029	0.0036	0	0.0021	0.0054	0.0058	0.0020	0.0040038	619	154602	rs41282045	0.0054	0.0054	0.0055	0.0053	0.0062	0.0053	0.0053	0.0061	0.0061	0.0027	0.0053	0.0006	7.56e-05	0.0019	0.0012	0.0062	0.0055	0.0021	0.0047	0.0047	0.0048	0.0046	0.0080	0.0044	0.0043	0.0068	0.0064	0.0031	0	0.0080	0.0012	0	0.0015	0.0068	0.0062	0.0066	0.0012	0.0	0.91255	D	0.0	0.92824	D	0.333	0.90584	B	0.061	0.97372	B	0.000016	0.62929	N	0.067924	1	0.81001	D	3.045	0.86684	M	-1.53	0.81559	D	-7.7	0.95634	D	0.442	0.49146	0.018	0.82625	D	0.568	0.84354	D	10	0.02933821	0.01061	T	0.061305	0.68287	D	0.594	0.83857	.	.	0.87763515594	0.87644	0.6762308199441927	0.67562	0.239766953823	0.26521	0.326112896204	0.14347	T	0.717009	0.91972	D	-0.115197	0.33911	T	0.0650577	0.74580	D	0.112282171109764	0.13659	T	0.910809	0.68393	D	0.85933286	0.88035	0.79345155	0.87860	0.85933286	0.88036	0.79345155	0.87860	-8.484	0.64323	D	.	.	0.133	0.28693	B	.;.;.;.	.;.;.;.	3.278626	0.44915	22.0	0.99918377060229635	0.98586	0.86330	0.45589	D	AEFI	0.667907	0.63587	D	0.216599410273947	0.52004	3.37741	0.146981402743337	0.46981	2.93546	0.0446572718013259	0.14621	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.61	1.19	0.20120	0.958000	0.28825	0.158000	0.15372	0.662000	0.56354	0.978000	0.35038	0.000000	0.08366	0.743000	0.35541	0.1727:0.0:0.5052:0.3221	4.138	0.09645	530	0.73653	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	779.98	34	chr16	48200470	.	G	A	779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.910e-01;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-9.570e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/1:28,31:59:99:794,0,756	20	0	1	0
chr16	53462624	53462624	A	T	exonic	RBL2	.	nonsynonymous SNV	RBL2:NM_001323608:exon11:c.A1529T:p.E510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.25	M	-3.08	D	1.020	D	0.899	D	0.971	3.905	19.86	5.8	2.221	8.059	16.146	0.955	0.698021744033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000007	0.62929	D	0.109126	1	0.81001	D	3.355	0.91145	M	-3.08	0.92560	D	-6.71	0.93060	D	0.987	0.99548	1.020	0.97538	D	0.899	0.96635	D	10	0.98157704	0.98190	D	0.698022	0.97524	D	0.955	0.99221	0.858	0.95662	0.976352431779	0.97609	0.8730617578841169	0.87272	0.906180166241	0.70856	0.533630371094	0.43546	T	0.805702	0.95091	D	0.519561	0.94895	D	0.508537	0.94819	D	0.997274192706533	0.91171	D	0.933207	0.74971	D	0.9087223	0.92176	0.8905836	0.94308	0.9087223	0.92177	0.8905836	0.94308	-15.623	0.97140	D	.	.	0.976	0.90888	P	.;.	.;.	5.149213	0.86240	28.8	0.9880068874977519	0.46445	0.98737	0.86207	D	AEFDBI	0.887082	0.81904	D	0.943380040545503	0.93717	12.22811	0.890194858102133	0.95132	13.33905	0.999999596435209	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	8.054000	0.89239	11.102000	0.86142	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.146	0.81381	440	0.80101	Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box;Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box	.	.	.	.	.	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	827.98	44	chr16	53462624	.	A	T	827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.720e-01;DP=967;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=-1.003e+00;SOR=0.606	GT:AD:DP:GQ:PL	0/1:39,37:76:99:842,0,943	20	0	1	0
chr16	58680098	58680098	T	C	exonic	SLC38A7	.	nonsynonymous SNV	SLC38A7:NM_001308384:exon2:c.A29G:p.Y10C	.	.	430	1087	5	0	0	5	0.00229463	.	.	726722	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.786	P	0.386	B	0.775	N	1.000	N	0.695	N	2.94	T	-0.964	T	0.012	T	0.256	1.376	10.53	2.28	0.094	1.069	7.751	0.041	.	0.0002	0.00638978	0.0050	9.98e-05	0.0107	0.0115	0.0288	0.0020	0.0091	0.0007	0.003978	615	154602	rs151075190	0.0019	0.0020	0.0019	0.0019	0.0106	0.0019	0.0018	0.0097	0.0094	0	0.0106	0	0.0091	0.0287	0	0.0003	0.0020	0.0007	0.0033	0.0033	0.0023	0.0044	0.0133	0.0031	0.0030	0.0108	0.0099	2.405e-05	0	0.0050	0	0.0133	0.0268	0	0.0010	0.0019	0.0015	0.083	0.56456	T	0.169	0.34959	T	0.187	0.29285	B	0.042	0.24114	B	0.775231	0.06621	N	1.099490	1	0.08975	N	1.935	0.51832	L	2.94	0.35405	T	0.04	0.31375	N	0.236	0.36254	-0.9644	0.38330	T	0.012	0.04558	T	9	0.0024581552	0.00037	T	.	.	.	0.041	0.10877	.	.	0.280181792013	0.27631	0.4050142347051937	0.40417	0.455770394439	0.45246	0.339849948883	0.16416	T	0.007995	0.07364	T	-0.48182	0.00722	T	-0.455482	0.27092	T	0.0178480891042658	0.00513	T	0.816718	0.47377	T	0.058463123	0.11763	0.038082734	0.03600	0.058463123	0.11763	0.038082734	0.03600	-3.508	0.16543	T	.	.	0.072	0.11027	B	.;.;.;.;.;.	.;.;.;.;.;.	1.752248	0.22289	15.56	0.98803772818468916	0.46493	0.66587	0.33130	D	AEFDGBI	.	.	.	-0.572137166162692	0.19794	1.038792	-0.580259844611699	0.20008	1.076068	0.674971956206263	0.22416	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.81	2.28	0.27583	1.341000	0.33512	1.920000	0.29703	0.660000	0.55035	0.906000	0.31575	0.960000	0.29291	0.474000	0.28430	0.1381:0.0:0.1314:0.7305	7.751	0.28062	509	0.75304	.;.;.;.;.;.	.	.	.	.	rs151075190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	790.98	38	chr16	58680098	.	T	C	790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.070e-01;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-8.210e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:33,33:66:99:805,0,880	20	0	1	0
chr16	66734304	66734304	G	A	exonic	DYNC1LI2	.	nonsynonymous SNV	DYNC1LI2:NM_001286157:exon5:c.C476T:p.A159V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.998	D	0.917	D	0.000	D	1.000	D	2.035	M	2.15	T	-0.953	T	0.172	T	0.822	3.953	20.2	4.99	2.748	9.657	18.88	0.226	0.014322145159	0.0004	0.00119808	0.0003	0.0024	0.0003	0	0	7.644e-05	0	6.285e-05	0.0002587	40	154602	rs138998809	5.815e-05	5.883e-05	6.943e-05	4.676e-05	0.0012	4.81e-05	4.432e-05	0.0009	0.0008	0.0012	0.0002	0	0	1.873e-05	0	1.529e-05	0.0003	2.32e-05	0.0006	0.0006	0.0005	0.0007	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0	0.0004	0	0	0	0	1.47e-05	0	0	0.493	0.08891	T	0.497	0.11299	T	0.995	0.67487	D	0.914	0.64984	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	1.61	0.28391	T	-1.58	0.38151	N	0.84	0.83678	-0.9527	0.40503	T	0.172	0.51421	T	10	0.05246198	0.05283	T	0.014322	0.34357	T	0.226	0.52472	.	.	0.68767428264	0.68500	0.5791528764675137	0.57844	0.879070115435	0.69703	0.749772906303	0.74413	T	0.050349	0.28569	T	-0.210536	0.19303	T	-0.0824604	0.64724	T	0.0671864763053135	0.08250	T	0.905309	0.67067	D	0.41397437	0.61688	0.17208134	0.39436	0.41397437	0.61689	0.17208134	0.39435	-7.958	0.60783	D	.	.	0.164	0.47393	B	.;.;.	.;.;.	5.247094	0.88089	29.5	0.99872766849610162	0.94989	0.98170	0.80208	D	AEFDBCI	0.902913	0.85137	D	0.677414358852762	0.78153	6.814403	0.666154589189166	0.79821	7.16356	0.999999999997675	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.99	4.99	0.65942	10.003000	0.99689	11.901000	0.99356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.631000	0.32184	0.0:0.0:1.0:0.0	18.88	0.92323	154	0.93967	.;.;.	.	.	.	.	.	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	796.98	35	chr16	66734304	.	G	A	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.427;DP=797;ExcessHet=0.0000;FS=1.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.76;ReadPosRankSum=-9.300e-01;SOR=0.476	GT:AD:DP:GQ:PL	0/1:55,36:91:99:811,0,1326	20	0	1	0
chr16	66755044	66755044	G	A	exonic	TERB1	.	nonsynonymous SNV	TERB1:NM_001136505:exon19:c.C2116T:p.R706W,	.	.	431	1070	21	0	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.804	P	0.244	B	.	.	1.000	D	2.25	M	-0.01	T	-0.711	T	0.196	T	0.834	1.886	12.26	0.895	0.687	0.219	8.173	0.340	0.0990114348706	.	0.00139776	0.0020	0	0.0024	0	0	0.0016	0	0.0030	0.0003687	57	154602	rs200191895	0.0009	0.0008	0.0008	0.0010	0.0035	0.0008	0.0008	0.0031	0.0030	0.0001	0.0011	0.0025	0	0.0001	0.0033	0.0007	0.0013	0.0035	0.0008	0.0008	0.0008	0.0007	0.0027	0.0007	0.0006	0.0016	0.0013	0.0002	0	0.0015	0.0017	0.0004	0.0002	0	0.0009	0.0028	0.0027	.	.	.	0.0	0.92824	D	0.804	0.45171	P	0.244	0.38795	B	.	.	.	.	0.945505	0.81001	D	2.65	0.77586	M	-0.01	0.62762	T	.	.	.	0.915	0.91736	-0.7112	0.59893	T	0.196	0.55100	T	9	0.063039124	0.08152	T	0.099011	0.77036	D	0.340	0.66202	.	.	0.632468194898	0.62945	0.8632737748027692	0.86291	.	.	0.436707556248	0.30127	T	0.046743	0.27515	T	-0.144685	0.29145	T	0.0169721	0.71435	D	0.0380087372379942	0.03334	T	0.906209	0.66975	D	0.12773815	0.29883	0.19236793	0.42747	0.12773815	0.29883	0.19236793	0.42746	-13.416	0.91004	D	.	.	0.558	0.67132	A	.;.	.;.	3.666294	0.52110	23.2	0.9401128398898142	0.24113	0.41925	0.26765	N	AEFDBHCI	0.372404	0.45806	N	0.109644642783173	0.46912	2.924414	0.10288310517962	0.44696	2.746361	0.999644148923686	0.41316	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.76	0.895	0.18380	0.258000	0.18156	2.010000	0.30161	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.929000	0.46594	0.084:0.0:0.2612:0.6547	8.173	0.30425	67	0.97183	SANT/Myb domain|SANT/Myb domain;SANT/Myb domain|SANT/Myb domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	271.98	36	chr16	66755044	.	G	A	271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.191e+00;DP=718;ExcessHet=0.0000;FS=1.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.80;ReadPosRankSum=-1.551e+00;SOR=0.645	GT:AD:DP:GQ:PL	0/1:25,15:40:99:286,0,618	20	0	1	0
chr16	67280224	67280224	G	T	exonic	PLEKHG4	.	nonsynonymous SNV	PLEKHG4:NM_001129731:exon1:c.G180T:p.E60D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.007	B	0.012	B	.	.	1.000	N	0.69	N	3.0	T	-0.940	T	0.016	T	0.126	1.591	11.27	1.54	0.751	1.260	6.242	0.025	0.00392399736175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0003	2.3e-07	9e-08	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665	0.24183	T	0.829	0.07691	T	0.007	0.14184	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.0	0.09356	T	0.37	0.15379	N	0.099	0.10340	-0.9395	0.42695	T	0.016	0.06664	T	9	0.049572855	0.04567	T	0.003924	0.09242	T	0.025	0.05312	0.071	0.00418	0.237489013734	0.23353	0.07627829696260831	0.07563	0.240294816583	0.26575	0.354922652245	0.18644	T	0.01263	0.19900	T	-0.294814	0.09159	T	-0.661257	0.08182	T	0.0605525633088685	0.07255	T	0.639136	0.25296	T	0.045333166	0.07402	0.045889445	0.06274	0.045333166	0.07401	0.045889445	0.06274	-3.471	0.16713	T	.	.	0.071	0.10400	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.798412	0.11688	8.271	0.95249891704369249	0.26504	0.09029	0.14865	N	AEFDGBI	0.077126	0.15532	N	-0.976543398578974	0.09106	0.4296346	-0.996784135009338	0.09857	0.4928906	0.999990191912078	0.74766	0.676563	0.55306	0	0.55458	0.17659	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	3.73	1.54	0.22290	1.196000	0.31807	1.920000	0.29703	0.602000	0.45918	0.009000	0.18154	0.955000	0.29136	0.038000	0.14061	0.0:0.2052:0.5837:0.2112	6.242	0.20008	23	0.98420	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	831.98	33	chr16	67280224	.	G	T	831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.180e-01;DP=778;ExcessHet=0.0000;FS=1.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=1.40;SOR=0.670	GT:AD:DP:GQ:PL	0/1:44,34:78:99:846,0,1157	20	0	1	0
chr16	68828281	68828281	G	C	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2089C:p.E697Q	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.63	M	-1.59	D	0.600	D	0.727	D	0.374	4.496	24.1	4.37	1.333	7.712	15.754	0.716	0.089440474657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	0.0001	2.729e-06	5.511e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.062	0.49390	T	1.0	0.90584	D	1.0	0.97372	D	0.000363	0.45194	D	0.000000	0.999999	0.58761	D	2.535	0.73915	M	-1.59	0.82076	D	-2.77	0.58733	D	0.553	0.57860	0.600	0.91895	D	0.727	0.90658	D	10	0.50837284	0.61952	D	0.08944	0.75327	D	0.716	0.89922	0.667	0.80502	0.955453839657	0.95498	0.8589841526515866	0.85861	0.901354855463	0.70653	0.710164666176	0.68617	T	0.596272	0.86994	D	0.110966	0.65452	D	-0.0783812	0.65023	T	0.980278690940645	0.73272	D	0.941806	0.85685	D	0.69648063	0.77865	0.47090107	0.69321	0.69648063	0.77866	0.47090107	0.69321	-9.267	0.72188	D	0.4347497002971249	0.52129	0.957	0.87731	P	.;.;.	.;.;.	5.187613	0.86995	29.1	0.99831881498280306	0.91370	0.95925	0.66748	D	AEFBCI	0.959031	0.97914	D	0.770012994540675	0.84199	8.222184	0.709284939559444	0.83082	7.929737	0.999387407795527	0.39415	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.35	4.37	0.51830	7.887000	0.85804	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1371:0.8629:0.0	15.754	0.77777	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1818	186.47	102	chr16	68828281	.	G	C	186.47	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-1.109e+00;DP=2532;ExcessHet=0.6776;FS=194.204;InbreedingCoeff=-0.2767;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=-3.430e-01;SOR=10.494	GT:AD:DP:GQ:PL	0/1:92,29:121:52:52,0,1484	7	0	4	10
chr16	81117382	81117382	G	T	exonic	PKD1L2	.	unknown	UNKNOWN,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.389e-05	0	0	0	0	1.532e-05	0	0.0002	2.59e-05	4	154602	rs921590986	3.015e-05	3.078e-05	1.772e-05	4.271e-05	0.0007	2.285e-05	2.035e-05	0.0002	0.0001	0	6.76e-05	0	0	0	0.0007	1.26e-05	6.639e-05	0.0002	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	406.98	35	chr16	81117382	.	G	T	406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.451;DP=773;ExcessHet=0.0000;FS=2.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.27;ReadPosRankSum=1.16;SOR=1.127	GT:AD:DP:GQ:PL	0/1:38,18:56:99:421,0,999	20	0	1	0
chr16	84191362	84191367	GCCCGC	-	exonic	ADAD2	.	nonframeshift deletion	ADAD2:NM_001145400:exon1:c.132_137del:p.P49_A50del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0.0008	0	0	0.0002	0	0.0017	0.0003363	52	154602	rs745979380	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0012	0.0011	0	0.0007	0	5.229e-05	0	0.0017	0.0001	0.0004	0.0014	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0006	0	0.0002	0	0	0.0003	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	9312.79	48	chr16	84191361	.	GGCCCGC	AGCCCGC,G	9312.79	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.595;DP=904;ExcessHet=0.2231;FS=3.336;InbreedingCoeff=0.2202;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=-4.400e-02;SOR=0.756	GT:AD:DP:GQ:PL	0/1:22,16,0:38:99:414,0,567,480,615,1095	11	2	7	0
chr16	86552196	86552196	G	A	exonic	MTHFSD	.	nonsynonymous SNV	MTHFSD:NM_001159378:exon3:c.C220T:p.R74C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.938	P	0.467	P	.	.	1.000	D	3.575	H	0.88	T	-0.389	T	0.224	T	0.617	3.858	19.60	4.88	1.351	7.176	13.788	0.391	0.0712965614752	.	.	2.528e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs767847970	1.779e-05	1.779e-05	1.361e-05	2.2e-05	0.0002	1.238e-05	1.052e-05	0.0001	0.0001	0	0	0	2.519e-05	0	0	5.396e-06	0	0.0002	2.626e-05	2.625e-05	1.285e-05	4.027e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.017	0.51248	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.88	0.46028	T	-7.13	0.95366	D	0.704	0.71143	-0.3889	0.72377	T	0.224	0.58856	T	9	0.79639137	0.79108	D	0.071297	0.71233	D	0.391	0.70684	.	.	0.698870113343	0.69627	.	.	.	.	0.513438403606	0.40704	T	0.426218	0.82212	T	-0.187465	0.22630	T	-0.247378	0.50076	T	0.515599846839905	0.33203	D	0.867613	0.60854	D	.	.	.	.	.	.	.	.	-11.923	0.84473	D	.	.	0.605	0.73980	P	.;.;.;.	.;.;.;.	2.873055	0.37996	20.6	0.99918182604276173	0.98586	0.98534	0.83810	D	AEFBI	0.905489	0.85707	D	0.669226680842934	0.77617	6.709469	0.622878872725212	0.76605	6.521911	0.999996477284352	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.408882	0.06424	0	0.635551	0.53088	0	.	.	5.93	4.88	0.63131	7.144000	0.76943	4.395000	0.43227	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0787:0.0:0.9213:0.0	13.788	0.62612	970	0.06235	.;.;.;.	.	.	.	.	.	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	1751.98	33	chr16	86552196	.	G	A	1751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.42;DP=911;ExcessHet=0.0000;FS=1.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-4.930e-01;SOR=0.808	GT:AD:DP:GQ:PL	0/1:83,67:150:99:1766,0,1967	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	2/2:1,0,105,0,0,0:106:99:4170,4175,4215,276,316,0,4175,4215,316,4215,4175,4215,316,4215,4215,4175,4215,316,4215,4215,4215	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	2/2:1,0,105,0,0,0:106:99:4170,4175,4215,276,316,0,4175,4215,316,4215,4175,4215,316,4215,4215,4175,4215,316,4215,4215,4215	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	2/2:1,0,105,0,0,0:106:99:4170,4175,4215,276,316,0,4175,4215,316,4215,4175,4215,316,4215,4215,4175,4215,316,4215,4215,4215	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	2/2:1,0,105,0,0,0:106:99:4170,4175,4215,276,316,0,4175,4215,316,4215,4175,4215,316,4215,4215,4175,4215,316,4215,4215,4215	4	4	6	0
chr16	88432422	88432422	A	G	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.A4952G:p.Q1651R,	Brittle cornea syndrome 1, Autosomal recessive	.	0	1511	11	0	0	11	0.00362677	.	.	192280	Brittle_cornea_syndrome_1|Cardiovascular_phenotype|Ehlers-Danlos_syndrome|not_provided	MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.35	T	0.004	B	0.003	B	.	.	1.000	N	0.345	N	3.42	T	-0.942	T	0.007	T	0.049	0.909	8.699	-8.38	-2.012	-0.707	1.084	0.004	0.159296427236	.	.	0.0004	0	0	0	0	0.0007	0.0063	0.0003	5.82e-05	9	154602	rs773925755	0.0004	0.0004	0.0004	0.0004	0.0077	0.0003	0.0003	0.0059	0.0053	0.0002	0.0007	0.0031	0	0	0.0077	0.0003	0.0011	0.0002	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0008	0.0007	0.0002	0	0.0012	0.0012	0	0	0.0068	0.0003	0.0005	0.0006	0.486	0.08091	T	0.211	0.26631	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.35	0.05989	T	-0.28	0.11547	N	0.029	0.02272	-0.9424	0.42234	T	0.007	0.02558	T	9	0.018613935	0.00407	T	0.159296	0.83953	D	0.004	0.00165	.	.	0.15556083564	0.15200	0.23828793486895608	0.23742	.	.	0.261016577482	0.05013	T	0.01143	0.10197	T	-0.664458	0.00059	T	-0.825782	0.01339	T	0.00135794444940984	0.00013	T	0.348565	0.07715	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.08609	B	.;.	.;.	-1.103645	0.00636	0.017	0.43578238770904026	0.03290	0.03014	0.07887	N	AEFDBI	0.087573	0.17757	N	-1.52929385133207	0.01660	0.07259991	-1.65009968223497	0.01375	0.0621263	0.999741137325267	0.42466	0.646311	0.45356	0	0.588066	0.40923	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.19	-8.38	0.00851	-0.724000	0.05050	-2.177000	0.04100	-0.351000	0.05566	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3759:0.2506:0.0942:0.2793	1.084	0.01545	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2330.98	101	chr16	88432422	.	A	G	2330.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.214e+00;DP=1822;ExcessHet=0.0000;FS=2.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.679;SOR=0.597	GT:AD:DP:GQ:PL	0/1:89,100:189:99:2345,0,2399	20	0	1	0
chr16	89770246	89770246	C	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon25:c.G2236T:p.A746S	Fanconi anemia, complementation group A, Autosomal recessive	YES	2	1513	7	0	0	7	0.00230795	.	.	342977	FANCA-related_disorder|Fanconi_anemia_complementation_group_A|Fanconi_anemia|not_provided	.|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.996	D	0.837	P	0.007	N	1.000	D	2.14	M	-2.03	D	0.226	D	0.641	D	0.339	2.638	14.78	3.75	2.388	1.389	10.004	0.374	0.101411964741	.	0.000399361	0.0013	0	0.0009	0	0	0.0002	0	0.0044	0.0003816	59	154602	rs575108446	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0028	0.0027	0	2.584e-05	0	0	0	0.0018	5.663e-05	0.0003	0.0032	0.0002	0.0002	0.0001	0.0004	0.0046	0.0002	0.0002	0.0031	0.0026	2.407e-05	0.0088	0	0	0	0	0	8.822e-05	0	0.0046	0.094	0.34800	T	0.368	0.17640	T	0.991	0.64070	D	0.734	0.55432	P	0.006820	0.31785	N	0.258804	0.931221	0.27052	N	2.595	0.75868	M	-2.03	0.85613	D	-1.58	0.38151	N	0.507	0.57604	0.226	0.86353	D	0.641	0.87442	D	10	0.017692685	0.00379	T	0.101412	0.77427	D	0.374	0.69273	.	.	0.848377370426	0.84692	0.18838922495874405	0.18756	.	.	0.439378619194	0.30491	T	0.360636	0.72685	T	-0.276577	0.11034	T	-0.172482	0.57216	T	0.0988314533091084	0.12228	T	0.858114	0.57479	D	0.1316803	0.30686	0.091280915	0.21453	0.10534849	0.24908	0.09300635	0.21946	-5.255	0.43255	T	0.8429165523238975	0.91100	0.240	0.47912	B	.;.	.;.	4.078100	0.60640	24.2	0.99523908714592113	0.69407	0.90058	0.50943	D	AEFDBI	0.154209	0.27920	N	0.415953226182305	0.62299	4.443546	0.354177331739331	0.58759	4.04856	0.854307646848187	0.25103	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.79	3.75	0.42236	1.251000	0.32465	6.028000	0.52885	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.442000	0.27716	0.0:0.7322:0.2678:0.0	10.004	0.41118	671	0.60868	.;.	.	.	.	.	.	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	939.98	46	chr16	89770246	.	C	A	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.560e-01;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-1.160e-01;SOR=0.697	GT:AD:DP:GQ:PL	0/1:41,41:82:99:954,0,977	20	0	1	0
chr16	89779944	89779944	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon18:c.C1640T:p.A547V	Fanconi anemia, complementation group A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1335130	Fanconi_anemia|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.42	M	-2.28	D	0.739	D	0.793	D	0.87	3.640	18.51	5.37	2.531	7.447	17.731	0.589	0.312192026379	.	.	0.0001	0	0	0	0	0	0	0.0010	0.0001164	18	154602	rs550821697	6.909e-05	6.909e-05	2.995e-05	0.0001	0.0012	5.78e-05	5.391e-05	0.0010	0.0009	0	0	0	0	0	0	0	1.656e-05	0.0012	5.255e-05	5.253e-05	1.284e-05	9.412e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000018	0.62929	D	0.000000	0.999881	0.50402	D	2.865	0.83145	M	-2.28	0.87591	D	-3.02	0.62630	D	0.769	0.79696	0.739	0.93653	D	0.793	0.92990	D	10	0.5747272	0.65515	D	0.312192	0.91219	D	0.589	0.83582	0.171	0.07655	0.961536280717	0.96112	0.5549498151830777	0.55421	.	.	0.472491562366	0.35023	T	0.588592	0.86637	D	0.103113	0.64627	D	0.318991	0.89048	D	0.582085132598877	0.35699	D	0.908809	0.73262	D	0.3115217	0.53917	0.32437226	0.58362	0.3115217	0.53918	0.32437226	0.58361	-10.966	0.80365	D	0.5848694286794677	0.65167	0.310	0.53755	B	.;.	.;.	4.316021	0.66020	24.9	0.99869804375651328	0.94726	0.98189	0.80377	D	AEFBI	0.722484	0.67240	D	0.6016340963063	0.73278	5.940077	0.478811205389212	0.66588	4.971669	0.999999714183396	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	7.488000	0.80254	11.600000	0.93469	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.355000	0.25773	0.0:0.0:1.0:0.0	17.731	0.88285	620	0.66037	.;.	.	.	.	.	.	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	1026.98	33	chr16	89779944	.	G	A	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=780;ExcessHet=0.0000;FS=2.903;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=2.21;SOR=0.972	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1041,0,903	20	0	1	0
chr16	89965923	89965923	A	G	exonic	DEF8	.	nonsynonymous SNV	DEF8:NM_001242817:exon12:c.A1136G:p.Q379R	.	.	416	1094	12	0	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.435	B	0.086	B	0.001	N	1.000	D	1.61	L	0.89	T	-1.058	T	0.080	T	0.242	2.674	14.90	3.32	0.755	2.704	7.729	0.043	0.0172251356361	.	0.000199681	0.0009	0.0001	0.0003	0	0	0.0002	0.0024	0.0052	0.0006856	106	154602	rs202055951	0.0004	0.0004	0.0003	0.0005	0.0045	0.0004	0.0004	0.0041	0.0040	2.987e-05	0.0004	0	0	0	0.0042	0.0001	0.0006	0.0045	0.0003	0.0003	0.0003	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	9.629e-05	0.0099	6.536e-05	0	0	0	0.0034	0.0001	0.0005	0.0050	0.042	0.44029	D	0.088	0.41405	T	0.001	0.35719	B	0.001	0.29521	B	0.001306	0.39449	N	0.170753	0.94986	0.38926	D	2.25	0.63811	M	0.92	0.91956	T	-1.06	0.27669	N	0.106	0.15749	-1.0579	0.12286	T	0.080	0.31705	T	10	0.005384147	0.00118	T	0.017225	0.38843	T	0.043	0.11576	.	.	0.564579235405	0.56121	0.45647020073458555	0.45565	0.602164739039	0.55238	0.399929523468	0.25058	T	0.009299	0.08472	T	-0.275869	0.11111	T	-0.168502	0.57579	T	0.0350807525866559	0.02822	T	0.756024	0.37907	T	0.08549143	0.19833	0.10329579	0.24781	0.08549143	0.19832	0.10329579	0.24781	-5.914	0.49196	T	.	.	0.090	0.12560	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.551989	0.33031	19.22	0.99031935297554652	0.50830	0.76238	0.37376	D	AEFDBI	0.234281	0.35707	N	-0.19890250793686	0.33179	1.879528	-0.0898632112949158	0.35808	2.076101	0.785460660593361	0.23922	0.787689	0.99735	0	0.709663	0.81188	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	4.44	3.32	0.37134	3.122000	0.50139	3.591000	0.39190	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.8103:0.0:0.1897:0.0	7.729	0.27941	633	0.64743	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	748.98	33	chr16	89965923	.	A	G	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.228e+00;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.13;ReadPosRankSum=1.16;SOR=0.654	GT:AD:DP:GQ:PL	0/1:46,36:82:99:763,0,1206	20	0	1	0
chr17	3695911	3695911	A	T	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204519:exon1:c.T95A:p.L32Q	.	.	396	1117	9	0	0	9	0.00401248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	1.000	D	2.85	M	3.35	T	-1.105	T	0.048	T	0.891	3.856	19.59	3.33	1.529	8.769	11.333	0.468	0.236888456295	0.0045	0.00159744	0.0041	0.0017	0.0042	0	0.0006	0.0062	0.0067	0.0007	0.0040426	625	154602	rs142863822	0.0055	0.0055	0.0056	0.0053	0.0161	0.0054	0.0053	0.0135	0.0125	0.0014	0.0040	0.0218	2.519e-05	0.0003	0.0161	0.0060	0.0074	0.0005	0.0038	0.0038	0.0042	0.0033	0.0053	0.0035	0.0034	0.0049	0.0047	0.0016	0	0.0031	0.0210	0.0002	0.0005	0.0102	0.0053	0.0061	0.0008	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999993	0.58761	D	3.17	0.88688	M	3.35	0.05989	T	-4.15	0.77308	D	0.898	0.89800	-1.1045	0.03588	T	0.048	0.20315	T	9	0.0128594935	0.00275	T	0.236888	0.88519	D	0.468	0.76289	.	.	0.492200611407	0.48855	0.6062517246499286	0.60556	0.619650878989	0.56302	0.537075996399	0.44032	T	0.216573	0.57878	T	-0.0943812	0.37351	T	0.093156	0.76456	D	0.0342277089542724	0.02675	T	0.906109	0.77539	D	0.75578994	0.81206	0.72901064	0.83989	0.75578994	0.81207	0.72901064	0.83990	-11.306	0.82848	D	.	.	0.533	0.76268	A	.;.;.;.;.	.;.;.;.;.	4.856198	0.79421	27.1	0.99521544950057794	0.69284	0.53590	0.29409	D	ALL	0.938104	0.93683	D	0.608941124306516	0.73738	6.015681	0.470581582995615	0.66050	4.901765	0.999999999999993	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	3.33	3.33	0.37245	8.546000	0.90465	10.738000	0.83653	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.405000	0.26894	1.0:0.0:0.0:0.0	11.333	0.48723	840	0.37365	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1642.98	34	chr17	3695911	.	A	T	1642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.186;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.54;ReadPosRankSum=0.708;SOR=0.725	GT:AD:DP:GQ:PL	0/1:47,66:113:99:1657,0,1072	20	0	1	0
chr17	4552616	4552616	G	A	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon6:c.C572T:p.A191V	.	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.015	B	0.015	B	0.109	N	1.000	N	1.61	L	0.97	T	-1.027	T	0.090	T	0.338	2.114	13.02	3.76	0.873	3.643	8.593	0.067	0.0118972905183	0.0005	0.000998403	0.0012	0.0003	0.0010	0	0	0.0011	0.0011	0.0034	0.0010931	169	154602	rs138754898	0.0008	0.0008	0.0006	0.0009	0.0157	0.0007	0.0007	0.0131	0.0121	0.0001	0.0007	0.0091	2.52e-05	0	0.0157	0.0003	0.0015	0.0030	0.0008	0.0008	0.0008	0.0009	0.0035	0.0007	0.0007	0.0022	0.0018	2.406e-05	0	0.0018	0.0104	0.0002	0	0.0034	0.0006	0.0014	0.0035	0.084	0.32929	T	0.045	0.49390	D	0.012	0.17086	B	0.009	0.17295	B	0.109271	0.19492	N	0.575167	1	0.08975	N	1.83	0.48079	L	0.97	0.42502	T	-1.49	0.36385	N	0.239	0.26957	-1.0272	0.21363	T	0.090	0.34573	T	10	0.0059212744	0.00133	T	0.011897	0.29978	T	0.067	0.19503	.	.	0.568572517066	0.56521	0.1526008540299817	0.15182	.	.	0.278889238834	0.07337	T	0.031852	0.22228	T	-0.458036	0.01011	T	-0.433134	0.29580	T	0.0108225124619509	0.00154	T	0.685131	0.29365	T	0.047382046	0.08088	0.048845947	0.07339	0.047382046	0.08088	0.048845947	0.07339	-5.277	0.39714	T	.	.	0.098	0.16054	B	.;.	.;.	1.638907	0.20919	14.97	0.98605821018212869	0.43572	0.75451	0.36943	D	AEFBCI	0.162185	0.28833	N	-0.441738241851715	0.24021	1.294126	-0.399210175550988	0.25021	1.373542	0.999548813669669	0.40300	0.719381	0.83141	0	0.723133	0.82719	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.78	3.76	0.42368	3.251000	0.51154	5.076000	0.47223	0.654000	0.53741	0.911000	0.31706	0.977000	0.30130	0.008000	0.08271	0.0776:0.0:0.7712:0.1512	8.593	0.32858	749	0.51929	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	595.98	38	chr17	4552616	.	G	A	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.346e+00;DP=761;ExcessHet=0.0000;FS=1.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=0.808;SOR=0.489	GT:AD:DP:GQ:PL	0/1:21,24:45:99:610,0,600	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	0/2:55,0,47:102:99:1109,1274,2747,0,1473,1333	14	2	4	0
chr17	4559354	4559354	G	T	exonic	GGT6	.	nonsynonymous SNV	GGT6:NM_001122890:exon3:c.C428A:p.A143D	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.846	P	0.363	B	0.412	N	0.999	D	2.315	M	3.22	T	-1.039	T	0.026	T	0.626	3.903	19.84	1.84	1.290	1.211	3.672	0.240	0.0131299137896	.	.	.	.	.	.	.	.	.	.	.	.	.	rs924122939	5.719e-06	6.156e-06	2.821e-06	8.696e-06	0.0007	2.46e-06	1.78e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.854e-06	3.448e-05	0	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	.	.	.	0.038	0.51421	D	0.846	0.46778	P	0.363	0.43280	B	0.411905	0.12985	N	0.730506	0.982553	0.45755	D	3.075	0.87202	M	3.2	0.07236	T	.	.	.	0.791	0.78737	-1.0394	0.17495	T	0.026	0.11353	T	10	0.8338195	0.82540	D	0.01313	0.32289	T	0.240	0.54500	0.856	0.95547	0.488337271218	0.48467	0.737328465584794	0.73677	0.402927746685	0.41237	0.519193768501	0.41513	T	0.005599	0.05051	T	-0.0842154	0.39028	T	-0.358746	0.38198	T	0.750708699226379	0.43324	D	0.90121	0.65680	D	0.14641279	0.33518	0.1431635	0.34033	0.14641279	0.33518	0.1431635	0.34032	-7.108	0.54818	T	.	.	0.370	0.61083	A	.;.;.	.;.;.	3.679886	0.52371	23.2	0.99575684748421844	0.72682	0.21169	0.21306	N	AEFDBI	0.124507	0.24059	N	0.154993074601818	0.49049	3.109689	0.118056553088479	0.45473	2.809804	0.998992258721176	0.38161	0.486886	0.10167	0	0.547309	0.14657	0	0.578056	0.29568	0	0.478617	0.07155	0	.	.	5.07	1.84	0.24348	1.605000	0.36426	6.577000	0.55985	0.676000	0.76740	0.916000	0.31843	1.000000	0.68203	0.910000	0.44547	0.2044:0.0:0.5998:0.1958	3.672	0.07814	735	0.53711	.;.;.	.	.	.	.	.	Uncertain significance	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	1304.98	34	chr17	4559354	.	G	T	1304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.523;DP=860;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.81;ReadPosRankSum=-5.090e-01;SOR=0.809	GT:AD:DP:GQ:PL	0/1:79,54:133:99:1319,0,2077	20	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	36673.09	217	chr17	4933907	.	ACCACCCCAGAGCCCAC	A,*	36673.09	.	AC=11,22;AF=0.262,0.524;AN=42;BaseQRankSum=-2.218e+00;DP=3857;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=11,22;MLEAF=0.262,0.524;MQ=59.64;MQRankSum=0.207;QD=13.33;ReadPosRankSum=0.579;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,92,0:167:99:0|1:4933907_ACCACCCCAGAGCCCAC_A:3009,0,2824,3235,3099,6333:4933907	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|1:75,92,0:167:99:0|1:4933907_ACCACCCCAGAGCCCAC_A:3009,0,2824,3235,3099,6333:4933907	0	10	6	1
chr17	6707135	6707135	T	C	exonic	SLC13A5	.	nonsynonymous SNV	SLC13A5:NM_001143838:exon2:c.A124G:p.I42V	Epileptic encephalopathy, early infantile, 25, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.329	B	0.437	B	0.000	N	1.000	D	0.835	L	4.04	T	-0.852	T	0.013	T	0.366	1.608	11.33	3.15	0.437	2.350	6.904	0.134	0.0115125430183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.21304	T	0.31	0.25210	T	0.329	0.33227	B	0.437	0.45591	B	0.000000	0.84330	N	0.085895	0.998017	0.81001	D	1.19	0.30124	L	4.04	0.03121	T	-0.62	0.18248	N	0.321	0.38848	-0.8519	0.51837	T	0.013	0.04985	T	10	0.15944508	0.29958	T	0.011513	0.29207	T	0.134	0.36365	0.522	0.62518	0.313210971179	0.30940	0.42086618264418346	0.42002	0.2501032942	0.27591	0.424964904785	0.28520	T	0.109445	0.42332	T	-0.169951	0.25242	T	-0.4819	0.24244	T	0.407440274953842	0.29222	T	0.816518	0.47426	T	0.09399844	0.22091	0.11753781	0.28373	0.09399844	0.22091	0.11753781	0.28372	-4.2	0.28414	T	0.18332288541525327	0.23726	0.096	0.31532	B	.;.;.	.;.;.	2.352183	0.30154	18.35	0.94365882124775891	0.24726	0.80044	0.39789	D	AEFDBCI	0.369692	0.45633	N	-0.322972037126395	0.28278	1.558384	-0.194155532616306	0.31751	1.799816	0.215747925061085	0.18295	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.4	3.15	0.35301	2.593000	0.45845	0.594000	0.19852	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0801:0.151:0.769	6.904	0.23478	812	0.42537	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	290.11	40	chr17	6707135	.	T	C	290.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.262e+00;DP=1270;ExcessHet=0.1072;FS=202.956;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.96;MQRankSum=0.00;QD=0.89;ReadPosRankSum=0.744;SOR=8.468	GT:AD:DP:GQ:PL	0/1:126,37:163:81:81,0,3403	19	0	2	0
chr17	7389019	7389019	C	A	exonic	TNK1	.	nonsynonymous SNV	TNK1:NM_001251902:exon13:c.C1936A:p.R646S	.	.	427	1094	1	0	0	1	0.00045683	.	.	2273792	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.141	B	0.046	B	0.340	N	0.994	N	1.7	L	-1.06	T	-0.713	T	0.329	T	0.336	1.778	11.90	3.71	1.418	1.489	9.290	0.155	0.0430231825688	8.2e-05	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs375240414	4.278e-05	4.72e-05	3.238e-05	5.346e-05	0.0003	3.382e-05	3.043e-05	0.0002	0.0002	3.149e-05	0	0	0	0	0	3.054e-05	5.158e-05	0.0003	2.628e-05	2.627e-05	0	5.379e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.939e-05	0	0.0002	.	.	.	0.013	0.63109	D	0.141	0.27581	B	0.046	0.24676	B	0.340447	0.13971	N	0.635768	0.993519	0.23698	N	1.81	0.47622	L	-1.06	0.76819	T	.	.	.	0.194	0.21319	-0.7130	0.59805	T	0.329	0.69707	T	10	0.069713116	0.10041	T	0.043023	0.60770	D	.	.	.	.	0.775072296251	0.77300	0.2979536132619248	0.29708	0.210131293866	0.23496	0.260749727488	0.04981	T	0.145516	0.48268	T	-0.0326326	0.47034	T	-0.284651	0.46326	T	0.0529024936258793	0.06003	T	.	.	.	0.10378972	0.24534	0.10158465	0.24324	0.10378972	0.24533	0.10158465	0.24324	-7.335	0.56869	T	.	.	0.315	0.54108	B	.;.	.;.	3.307825	0.45438	22.1	0.98688000953371757	0.44723	0.28300	0.23516	N	AEFBI	0.131844	0.25093	N	-0.501827620405223	0.22021	1.172918	-0.429260648443221	0.24142	1.320434	0.953931397997563	0.28102	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.73	3.71	0.41733	1.250000	0.32453	3.300000	0.37375	-0.223000	0.07921	0.062000	0.21832	1.000000	0.68203	0.958000	0.51230	0.1438:0.7788:0.0:0.0774	9.290	0.36943	192	0.92531	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	969.98	37	chr17	7389019	.	C	A	969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.674;DP=846;ExcessHet=0.0000;FS=1.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-8.450e-01;SOR=1.053	GT:AD:DP:GQ:PL	0/1:39,39:78:99:984,0,907	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	1/1:0,57,0,3,0,0:60:53:2633,179,0,2547,179,2494,2324,53,2289,2225,2547,179,2494,2289,2494,2547,179,2494,2289,2494,2494	0	14	0	0
chr17	7846865	7846865	-	ACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACC:p.P264_L265insPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,57,0,3,0,0:60:53:2633,179,0,2547,179,2494,2324,53,2289,2225,2547,179,2494,2289,2494,2547,179,2494,2289,2494,2494	0	14	0	0
chr17	7846865	7846865	-	ACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACC:p.P264_L265insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,57,0,3,0,0:60:53:2633,179,0,2547,179,2494,2324,53,2289,2225,2547,179,2494,2289,2494,2547,179,2494,2289,2494,2494	0	14	0	0
chr17	7846865	7846865	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,57,0,3,0,0:60:53:2633,179,0,2547,179,2494,2324,53,2289,2225,2547,179,2494,2289,2494,2547,179,2494,2289,2494,2494	0	14	0	0
chr17	10395357	10395357	C	T	exonic	MYH8	.	nonsynonymous SNV	MYH8:NM_002472:exon34:c.G4738A:p.A1580T,	Carney complex variant;Trismus-pseudocamptodactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	327079	Hecht_syndrome	MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300,Orphanet:3377	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.072	B	0.036	B	0.001	U	0.999	D	1.815	L	-1.26	T	-0.602	T	0.333	T	0.099	3.486	17.83	2.82	0.616	2.995	9.539	0.235	0.0161953350481	.	0.000199681	5.766e-05	0	8.637e-05	0	0	8.991e-05	0	0	6.47e-05	10	154602	rs181695343	7.867e-05	7.867e-05	6.262e-05	9.488e-05	0.0003	6.666e-05	6.201e-05	7.281e-05	5.824e-05	0	0.0002	7.652e-05	0.0002	0	0.0003	7.644e-05	8.279e-05	9.275e-05	0.0001	0.0001	8.996e-05	0.0001	0.0008	7.089e-05	5.746e-05	0.0005	0.0004	2.406e-05	0	0.0008	0	0.0004	0	0	2.941e-05	0	0	0.072	0.34982	T	0.209	0.26798	T	0.072	0.23997	B	0.036	0.22909	B	0.000885	0.41231	U	0.000000	0.999132	0.46149	D	2.26	0.64354	M	-1.26	0.79176	T	-2.06	0.47175	N	0.172	0.18376	-0.6016	0.64751	T	0.333	0.70035	T	10	0.14703086	0.27866	T	0.016195	0.37339	T	0.235	0.53788	.	.	0.703776758705	0.70120	0.121072828033133	0.12034	0.571743605247	0.53290	0.493223845959	0.37885	T	0.519828	0.83187	D	-0.301449	0.08523	T	-0.401488	0.33211	T	0.0581474690342337	0.06873	T	0.822818	0.48291	T	0.07645856	0.17292	0.12842607	0.30897	0.07645856	0.17291	0.12842607	0.30896	-8.142	0.62033	D	0.3687841192697082	0.46452	0.092	0.13409	B	.	.	2.920251	0.38767	20.8	0.99824338669766621	0.90677	0.91968	0.54654	D	AEFBI	0.414740	0.48388	N	-0.180944369769539	0.33929	1.930577	-0.0934997833114411	0.35658	2.065624	0.00708187691954142	0.11381	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.85	2.82	0.32061	3.181000	0.50603	1.771000	0.28634	0.599000	0.40250	0.994000	0.38300	0.925000	0.28409	0.930000	0.46718	0.142:0.7837:0.0:0.0743	9.539	0.38405	62	0.97349	Myosin tail	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1840.98	35	chr17	10395357	.	C	T	1840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=887;ExcessHet=0.0000;FS=1.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-1.515e+00;SOR=0.575	GT:AD:DP:GQ:PL	0/1:96,75:171:99:1855,0,2327	20	0	1	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	0/1:2,11,0:13:51:455,0,51,462,84,546	5	7	8	0
chr17	16727660	16727660	T	A	exonic	CCDC144A	.	nonsynonymous SNV	CCDC144A:NM_001382000:exon9:c.T2025A:p.N675K	.	.	.	.	.	.	.	.	.	.	.	3302976	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.003	B	0.004	B	.	.	0.979	N	-0.75	N	2.39	T	-0.952	T	0.012	T	0.069	-2.910	0.001	-3.36	-0.608	-0.129	3.443	0.006	0.00146830154849	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs762948246	6.457e-06	6.166e-06	7.155e-06	5.754e-06	0.0003	3.04e-06	2.2e-06	2.04e-06	1.34e-06	0	0	0	0	0	0.0003	5.663e-06	3.466e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	.	.	.	2.39	0.15724	T	2.55	0.00222	N	0.114	0.13626	-0.9523	0.40573	T	0.012	0.04653	T	8	0.033891052	0.01578	T	0.001468	0.02241	T	0.006	0.00375	0.326	0.30873	0.0138822411134	0.00435	0.010282390760649423	0.00989	.	.	0.74387460947	0.73542	T	0.001123	0.00635	T	-0.398144	0.02381	T	-0.809683	0.01672	T	0.0557897101063128	0.06489	T	0.0322968	0.00278	T	0.027251089	0.01890	0.042220026	0.04980	0.027251089	0.01890	0.042220026	0.04979	1.673	0.00070	T	.	.	0.177	0.38640	B	.;.;.	.;.;.	-0.506886	0.01845	0.148	0.13544600045209676	0.00270	0.00638	0.02794	N	AEFI	0.026523	0.02006	N	-1.61445979069732	0.01194	0.05190342	-1.65304280462181	0.01360	0.06142503	5.22740426462124E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.08	-3.36	0.04606	-0.084000	0.11233	-1.313000	0.05742	-2.843000	0.00175	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5652:0.0:0.2319:0.2028	3.443	0.07041	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	0.025	533.33	33	chr17	16727660	.	T	A	533.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.28;DP=688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=34.19;MQRankSum=-1.414e+00;QD=11.85;ReadPosRankSum=0.080;SOR=0.686	GT:AD:DP:GQ:PL	0/1:24,21:45:99:547,0,624	19	0	1	1
chr17	16940392	16940394	TCT	-	exonic	TNFRSF13B	.	nonframeshift deletion	TNFRSF13B:NM_012452:exon4:c.563_565del:p.K188del,	Immunodeficiency, common variable, 2, Autosomal recessive, Autosomal dominant;Immunoglobulin A deficiency 2	.	1	1520	1	0	0	1	0.000328839	.	.	530603	Immunodeficiency,_common_variable,_2|TNFRSF13B-related_disorder	MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0020	0	0	0.0001	0	4.51e-05	0	0.0145	0.0006916	18	26028	rs376630110	0.0008	0.0008	0.0005	0.0012	0.0132	0.0008	0.0008	0.0126	0.0123	0	2.236e-05	0	2.519e-05	0	0.0033	4.496e-06	0.0009	0.0132	0.0006	0.0006	0.0003	0.0009	0.0176	0.0005	0.0004	0.0146	0.0135	2.405e-05	0	0	0	0	0	0	0	0.0014	0.0176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	975.94	35	chr17	16940391	.	CTCT	C	975.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.670e-01;DP=739;ExcessHet=0.0000;FS=3.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.41;ReadPosRankSum=-4.810e-01;SOR=1.182	GT:AD:DP:GQ:PL	0/1:27,26:53:99:990,0,1046	20	0	1	0
chr17	18148547	18148547	C	T	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon31:c.C6743T:p.A2248V,	Deafness, autosomal recessive 3, Autosomal recessive	.	0	1495	25	2	0	29	0.00960583	.	.	54920	not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_3	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.91	P	0.335	B	.	.	1.000	D	2.505	M	-2.51	D	0.520	D	0.670	D	0.499	3.388	17.43	4.3	2.226	3.518	16.520	0.661	.	0.0003	0.00439297	0.0093	0.0005	0.0023	0	0	0.0016	0.0104	0.0216	0.0017982	278	154602	rs199831544	0.0014	0.0014	0.0008	0.0020	0.0182	0.0013	0.0013	0.0174	0.0171	6.324e-05	5.569e-05	0.0073	0	0	0.0028	0.0002	0.0018	0.0182	0.0008	0.0008	0.0006	0.0010	0.0145	0.0007	0.0006	0.0118	0.0108	9.627e-05	0	0.0005	0.0066	0	0	0	0.0002	0.0009	0.0145	0.043	0.41364	D	0.002	0.79402	D	0.91	0.50240	P	0.335	0.42239	B	.	.	.	.	0.999897	0.50595	D	3.17	0.88688	M	-2.51	0.89293	D	-3.82	0.71997	D	0.377	0.58883	0.520	0.90822	D	0.670	0.88546	D	9	0.0093669295	0.00212	T	.	.	.	0.661	0.87332	.	.	0.779154654256	0.77711	0.7726035762880744	0.77210	.	.	0.560795664787	0.47380	T	0.128323	0.88232	T	-0.208815	0.19545	T	-0.0577883	0.66487	T	0.0954846278579105	0.11853	T	0.884712	0.60854	D	0.38575172	0.59729	0.37404418	0.62579	0.36982277	0.58572	0.40623018	0.65002	-9.642	0.71740	D	0.6357685959209678	0.70577	0.352	0.56696	A	.;.;.	.;.;.	4.075321	0.60581	24.2	0.99693189963661699	0.80112	0.92504	0.55867	D	AEFBI	0.381485	0.46373	N	0.403898352134571	0.61637	4.367414	0.395471302872952	0.61285	4.326514	0.996981160912718	0.35173	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.3	4.3	0.50540	4.537000	0.60354	7.595000	0.61372	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.520	0.84159	190	0.92594	.;.;.	.	.	.	.	.	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	0.02381	601.98	34	chr17	18148547	.	C	T	601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.280e-01;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=0.383;SOR=0.801	GT:AD:DP:GQ:PL	0/1:35,25:60:99:616,0,919	20	0	1	0
chr17	27647035	27647035	G	T	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_001330163:exon8:c.G579T:p.M193I	.	.	434	1034	53	1	0	55	0.0259067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.001	B	0.006	B	0.706	N	1.000	N	0.55	N	3.85	T	-0.938	T	0.014	T	0.246	0.040	4.220	-2.32	-0.205	-0.270	3.724	0.025	.	0.0028	0.00858626	0.0070	0.0003	0.0029	0.0001	0.0024	0.0043	0.0077	0.0308	0.00641	991	154602	rs61736863	0.0047	0.0047	0.0036	0.0057	0.0307	0.0046	0.0045	0.0298	0.0294	0.0006	0.0030	0.0015	5.038e-05	0.0026	0.0243	0.0030	0.0052	0.0307	0.0037	0.0037	0.0032	0.0042	0.0338	0.0035	0.0034	0.0296	0.0280	0.0006	0	0.0033	0.0014	0	0.0028	0.0204	0.0041	0.0057	0.0338	1.0	0.03787	T	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.705616	0.10057	N	0.874683	1	0.08975	N	0.805	0.20218	L	2.88	0.10291	T	-0.92	0.30555	N	0.087	0.10198	-0.9379	0.42947	T	0.014	0.05561	T	10	0.007870913	0.00179	T	.	.	.	0.025	0.05312	0.396	0.42262	0.117506650769	0.11410	0.21356275858387824	0.21272	0.428623133953	0.43178	0.377718806267	0.21933	T	0.057428	0.30565	T	-0.608484	0.00129	T	-0.623824	0.10888	T	0.00143451320405818	0.00014	T	0.717128	0.38135	T	0.24168785	0.47088	0.09407839	0.22253	0.24168785	0.47088	0.09407839	0.22252	-3.734	0.19821	T	.	.	0.213	0.49903	B	.;.;.;.;.	.;.;.;.;.	0.027789	0.04477	1.192	0.7052755038938161	0.09325	0.04884	0.10627	N	AEFDBI	0.042672	0.06650	N	-1.07995783123573	0.07013	0.324544	-1.1025804986439	0.07651	0.3729923	0.189229202955983	0.17978	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.31	-2.32	0.06360	-0.410000	0.07214	-2.454000	0.03734	0.612000	0.49041	0.191000	0.24200	0.000000	0.08366	0.026000	0.12556	0.5182:0.0:0.299:0.1828	3.724	0.07996	253	0.90069	Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	11075.68	35	chr17	27647035	.	G	T	11075.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.540e-01;DP=1598;ExcessHet=0.3300;FS=0.524;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.99;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.147;SOR=0.745	GT:AD:DP:GQ:PL	0/1:182,137:319:99:3399,0,4507	18	0	3	0
chr17	28613589	28613589	G	A	exonic	RSKR	.	nonsynonymous SNV	RSKR:NM_001174103:exon2:c.C175T:p.R59W,	.	.	439	1063	20	0	0	20	0.00931966	.	.	3316818	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.017	B	0.003	B	0.851	N	1.000	N	0.695	N	1.14	T	-0.962	T	0.156	T	0.347	0.496	6.688	1.78	0.212	1.542	5.661	0.038	0.0231398134118	0.0007	0.000798722	0.0012	0	0.0007	0	0	0.0013	0.0033	0.0025	0.0010543	163	154602	rs145445550	0.0008	0.0008	0.0007	0.0009	0.0137	0.0008	0.0007	0.0113	0.0104	5.974e-05	0.0007	0.0085	0	1.872e-05	0.0137	0.0004	0.0018	0.0031	0.0007	0.0007	0.0007	0.0007	0.0041	0.0006	0.0006	0.0027	0.0023	9.629e-05	0	0.0005	0.0078	0	9.43e-05	0.0068	0.0007	0.0009	0.0041	0.057	0.43085	T	0.065	0.47581	T	.	.	.	.	.	.	0.851461	0.08959	N	0.923487	1	0.08975	N	.	.	.	-0.46	0.70014	T	-1.79	0.42191	N	0.286	0.33796	-0.9620	0.38800	T	0.156	0.48841	T	10	0.004371971	0.00089	T	0.02314	0.46083	T	0.038	0.09825	.	.	0.451599300725	0.44785	0.46210463325628254	0.46128	0.0916761220119	0.10349	.	.	.	.	.	.	-0.369602	0.03614	T	-0.307988	0.43875	T	0.0149468605264926	0.00319	T	0.711229	0.33361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26138	B	.;.;.;.;.	.;.;.;.;.	2.424130	0.31176	18.66	0.94354184642090078	0.24707	0.14794	0.18588	N	AEFDGBHCI	0.235967	0.35848	N	-0.804347519278457	0.13198	0.648553	-0.801302666700953	0.14464	0.7558717	0.985928176138972	0.30973	0.650006	0.45971	0	0.577304	0.33150	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	5.0	1.78	0.23918	1.841000	0.38881	1.466000	0.26718	0.676000	0.76740	0.064000	0.21895	0.002000	0.18203	0.564000	0.30507	0.1698:0.0:0.674:0.1562	5.661	0.16945	224	0.91330	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1661.98	39	chr17	28613589	.	G	A	1661.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=877;ExcessHet=0.0000;FS=1.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.386;SOR=0.830	GT:AD:DP:GQ:PL	0/1:73,67:140:99:1676,0,1625	20	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.796	P	0.741	P	0.000	D	1.000	D	1.91	M	-1.57	D	0.107	D	0.637	D	0.898	4.574	24.8	5.93	2.826	7.818	19.342	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12960.74	97	chr17	37257713	.	C	T	12960.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.586;DP=2083;ExcessHet=54.0936;FS=453.130;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=6.37;ReadPosRankSum=-7.710e-01;SOR=14.039	GT:AD:DP:GQ:PL	0/1:27,49:76:99:860,0,235	0	0	21	0
chr17	38730405	38730405	G	C	exonic	CISD3	.	nonsynonymous SNV	CISD3:NM_001136498:exon1:c.G47C:p.R16P,	.	.	487	1033	2	0	0	2	0.000967118	0.0010	0.008	2376341	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.014	B	0.001	B	.	.	1.000	N	0	N	.	.	-1.029	T	0.053	T	0.161	2.201	13.32	1.03	0.322	0.378	7.888	0.022	0.00713989975982	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs535247574	0.0001	0.0002	0.0001	0.0002	0.0046	0.0001	0.0001	0.0038	0.0036	0	0	0	0	0	0.0014	1.538e-05	0.0007	0.0046	0.0002	0.0002	0.0001	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	2.955e-05	0	0.0054	.	.	.	0.154	0.32040	T	0.014	0.16867	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.139	0.13769	-1.0286	0.20908	T	0.053	0.22423	T	8	0.010851592	0.00240	T	0.00714	0.18924	T	.	.	0.29	0.25081	0.0986583533028	0.09354	0.3821550060478252	0.38130	.	.	0.478506267071	0.35851	T	8.14E-4	0.00397	T	-0.193561	0.21737	T	-0.515814	0.20720	T	0.0583147226554417	0.06900	T	.	.	.	0.5977935	0.72572	0.5850668	0.75939	0.5977935	0.72574	0.5850668	0.75940	-3.743	0.19955	T	.	.	0.103	0.18331	B	.	.	1.452964	0.18743	13.90	0.74136522411661965	0.10583	0.18169	0.20148	N	AEFGBHCIJ	0.560662	0.56897	D	-0.978848937648243	0.09056	0.4270533	-0.976253448642809	0.10320	0.51902	0.999999999597128	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.581474	0.35302	0	.	.	3.16	1.03	0.19161	0.868000	0.27635	0.935000	0.22809	0.505000	0.23025	0.522000	0.27127	0.001000	0.17328	0.004000	0.06068	0.0:0.0:0.5554:0.4446	7.888	0.28824	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	236.99	9	chr17	38730405	.	G	C	236.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.430e-01;DP=339;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0251;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-8.700e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:13,11:24:99:251,0,311	20	0	1	0
chr17	38815020	38815020	C	T	exonic	CWC25	.	nonsynonymous SNV	CWC25:NM_017748:exon3:c.G269A:p.R90H,	.	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.000	D	1.000	D	2.82	M	.	.	0.212	D	0.547	D	0.854	5.171	32	5.32	2.518	7.070	17.577	0.815	0.0334707954884	0.0002	0.00119808	0.0008	0	0	0	0	0.0002	0.0045	0.0047	0.0006662	103	154602	rs367958160	0.0004	0.0004	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	2.987e-05	0	0.0036	0	0	0.0014	3.148e-05	0.0008	0.0040	0.0003	0.0003	0.0002	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	0	0	0	0.0029	0	0	0	5.88e-05	0	0.0058	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.295	0.90403	M	.	.	.	.	.	.	0.756	0.75466	0.212	0.86106	D	0.547	0.83355	D	9	0.023109585	0.00595	T	0.033471	0.55002	D	.	.	.	.	0.303123707472	0.29912	0.44555854255413524	0.44473	.	.	0.787967562675	0.80133	T	0.43944	0.78472	T	0.0859512	0.62729	D	0.350679	0.90344	D	0.203501668811681	0.20608	T	.	.	.	0.37894207	0.59240	0.21164481	0.45602	0.37894207	0.59240	0.21164481	0.45601	-9.604	0.71504	D	.	.	0.564	0.67373	A	.	.	5.447341	0.91008	32	0.99944881881089009	0.99886	0.98235	0.80793	D	AEFBI	0.844415	0.76137	D	0.871510836441692	0.90297	10.34	0.822440564828272	0.91307	10.822	0.99999999747369	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.141000	0.76920	7.405000	0.58601	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	17.577	0.87850	354	0.85282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	933.98	33	chr17	38815020	.	C	T	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.613;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=0.847;SOR=0.794	GT:AD:DP:GQ:PL	0/1:40,40:80:99:948,0,890	20	0	1	0
chr17	39829479	39829479	G	A	exonic	IKZF3	.	nonsynonymous SNV	IKZF3:NM_001257410:exon3:c.C71T:p.A24V	.	.	426	1085	10	1	0	12	0.00549954	.	.	2811304	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.005	B	0.004	B	0.449	N	1.000	N	0	N	4.38	T	-0.929	T	0.011	T	0.029	-0.037	3.823	-5.48	-0.850	-0.444	5.690	0.017	0.00664395678553	0.0012	0.000199681	0.0008	0.0003	0.0005	0.0003	0.0006	0.0011	0.0011	0.0004	0.0008085	125	154602	rs61749874	0.0009	0.0010	0.0010	0.0009	0.0029	0.0009	0.0009	0.0019	0.0015	0.0003	0.0004	7.659e-05	0.0001	0.0005	0.0029	0.0011	0.0010	0.0003	0.0007	0.0007	0.0008	0.0006	0.0013	0.0006	0.0006	0.0011	0.0010	0.0002	0	0.0003	0	0.0002	0.0003	0	0.0013	0.0009	0.0002	0.332	0.24277	T	0.221	0.56192	T	0.001	0.12996	B	0.001	0.10090	B	0.449490	0.04806	N	1.427950	1	0.08975	N	0	0.06538	N	3.41	0.08986	T	-0.48	0.25551	N	0.052	0.15749	-0.9294	0.44227	T	0.011	0.04227	T	10	0.012108445	0.00261	T	0.006644	0.17529	T	0.017	0.02790	.	.	0.143184338766	0.13958	0.20533718198859963	0.20450	0.605635663499	0.55446	0.24314904213	0.03081	T	.	.	.	-0.730841	0.00024	T	-0.847206	0.00996	T	0.000450568437410543	0.00004	T	0.69513	0.30474	T	0.016803363	0.00223	0.03121239	0.01678	0.016803363	0.00223	0.03121239	0.01677	-3.753	0.22287	T	.	.	0.109	0.41156	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.140840	0.03405	0.616	0.70288833417984531	0.09247	0.00597	0.02669	N	AEFBI	0.049205	0.08476	N	-1.387075287123	0.02758	0.1222555	-1.43514637736797	0.02907	0.1346316	0.159831065858563	0.17575	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.44	-5.48	0.02388	-0.357000	0.07702	0.567000	0.19568	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1444:0.0:0.333:0.5226	5.690	0.17095	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	1	0	0	0	0.04762	2559.11	115	chr17	39829479	.	G	A	2559.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.840e-01;DP=896;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-4.050e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:39,48:87:99:1108,0,951	19	0	2	0
chr17	40488765	40488765	A	G	exonic	TNS4	.	nonsynonymous SNV	TNS4:NM_032865:exon3:c.T644C:p.L215P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.0	B	0.0	B	0.437	N	1.000	N	-0.695	N	2.17	T	-1.004	T	0.020	T	0.076	-0.860	0.527	-1.35	-0.511	0.425	4.773	0.011	0.00336882342393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.06e-06	2.052e-06	2.733e-06	1.379e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.326e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.268	0.22494	T	0.0	0.02946	B	0.0	0.01387	B	0.436706	0.04736	N	1.430440	1	0.08975	N	-0.35	0.03145	N	2.17	0.19020	T	1.35	0.00889	N	0.085	0.06190	-1.0042	0.28696	T	0.020	0.08220	T	10	0.034911454	0.01718	T	0.003369	0.07542	T	0.011	0.01250	0.287	0.24601	0.461671691612	0.45793	0.2362660991311221	0.23541	0.242659857926	0.26772	0.261921882629	0.05122	T	0.004079	0.03492	T	-0.375206	0.03339	T	-0.776734	0.02554	T	0.128420203924179	0.15235	T	0.294771	0.05441	T	0.06858626	0.14955	0.07107496	0.15175	0.06858626	0.14955	0.07107496	0.15175	-3.514	0.16628	T	.	.	0.051	0.00165	B	.	.	0.893459	0.12673	9.194	0.31723587526982056	0.01802	0.00900	0.03527	N	AEFDGBCI	0.022167	0.01074	N	-1.42034775592595	0.02460	0.1086681	-1.3989464464439	0.03263	0.1518801	0.99999976078282	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.97	-1.35	0.08638	0.061000	0.14242	0.489000	0.18882	-0.576000	0.04747	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.3225:0.0:0.5433:0.1342	4.773	0.12537	267	0.89517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	846.98	44	chr17	40488765	.	A	G	846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.570e-01;DP=886;ExcessHet=0.0000;FS=3.113;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-4.100e-01;SOR=1.143	GT:AD:DP:GQ:PL	0/1:43,37:80:99:861,0,1089	20	0	1	0
chr17	41026912	41026912	G	A	exonic	KRTAP1-5	.	stopgain	KRTAP1-5:NM_031957:exon1:c.C244T:p.Q82X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.639	18.51	2.12	0.442	0.440	7.727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.075	0.04913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497318	0.94214	D	0.476586	0.94137	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.943239	0.94137	33	0.99326971630600591	0.59622	0.25020	0.22572	N	AEFDBCIJ	0.071181	0.14161	N	0.443940189308683	0.63861	4.628086	0.176331101384099	0.48553	3.069706	0.999198222824983	0.38711	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.31	2.12	0.26372	0.371000	0.20182	0.021000	0.13590	0.592000	0.32167	0.004000	0.16614	0.000000	0.08366	0.807000	0.38039	0.0:0.3527:0.4791:0.1682	7.727	0.27930	432	0.80690	.	.	.	.	.	.	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	1506.98	34	chr17	41026912	.	G	A	1506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.510e-01;DP=822;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-2.320e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/1:60,55:115:99:1521,0,1729	20	0	1	0
chr17	41065513	41065513	G	0	exonic	KRTAP2-4	.	.	.	.	.	421	1053	32	2	14	50	0.0168067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	899.24	34	chr17	41065513	.	G	A,*	899.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=2.70;DP=910;ExcessHet=0.6776;FS=0.479;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=56.55;MQRankSum=-4.000e-01;QD=3.41;ReadPosRankSum=0.826;SOR=0.639	GT:AD:DP:GQ:PL	0/2:36,0,20:56:99:711,819,2324,0,1505,1442	17	0	1	0
chr17	41255418	41255418	-	ACATGCTGCAGGACC	exonic	KRTAP9-9	.	nonframeshift insertion	KRTAP9-9:NM_030975:exon1:c.33_34insACATGCTGCAGGACC:p.C18_W19insCRTTC,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0003	0.0004	0	0.0002	0	0.0016	.	.	.	.	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	9.887e-05	0	0.0006	0	0.0003	9.047e-05	0.0002	0.0006	0.0003	0.0002	0.0002	0.0004	0.0009	0.0002	0.0002	0.0003	0.0003	9.301e-05	0	0	0	0	0	0	0.0006	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	31242.72	98	chr17	41255418	.	T	TACCTGCTGCAGGACC,TACATGCTGCAGGACC	31242.72	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.14;DP=2539;ExcessHet=0.0001;FS=5.599;InbreedingCoeff=0.7311;MLEAC=26,1;MLEAF=0.619,0.024;MQ=52.57;MQRankSum=-1.273e+00;QD=33.81;ReadPosRankSum=-3.744e+00;SOR=1.018	GT:AD:DP:GQ:PL	0/1:52,25,0:77:1:966,0,1,1023,76,1099	6	11	3	0
chr17	41586669	41586669	G	A	exonic	KRT14	.	nonsynonymous SNV	KRT14:NM_000526:exon1:c.C166T:p.R56C,	Dermatopathia pigmentosa reticularis, Autosomal dominant;Epidermolysis bullosa simplex, Dowling-Meara type, Autosomal dominant;Epidermolysis bullosa simplex, Koebner type, Autosomal dominant;Epidermolysis bullosa simplex, Weber-Cockayne type, Autosomal dominant;Epidermolysis bullosa simplex, recessive 1, Autosomal recessive;Naegeli-Franceschetti-Jadassohn syndrome, Autosomal dominant	.	2	1500	18	2	0	22	0.00727995	.	.	715437	not_provided|Epidermolysis_bullosa_simplex_1C,_localized|Naegeli-Franceschetti-Jadassohn_syndrome|Epidermolysis_bullosa_simplex_1A,_generalized_severe|Dermatopathia_pigmentosa_reticularis|Epidermolysis_bullosa_simplex_1D,_generalized,_intermediate_or_severe,_autosomal_recessive|Epidermolysis_bullosa_simplex,_Koebner_type	MedGen:C3661900|MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800,Orphanet:79400|MONDO:MONDO:0008059,MedGen:C0343111,OMIM:161000,Orphanet:69087|MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396|MONDO:MONDO:0007445,MedGen:C0406778,OMIM:125595,Orphanet:86920|MONDO:MONDO:0010976,MedGen:C3715082,OMIM:601001,Orphanet:89838|MONDO:MONDO:0007554,MedGen:C5561924,OMIM:131900,Orphanet:79399	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.0	B	0.000	D	1.000	D	1.5	L	-1.8	D	-0.612	T	0.237	T	0.408	0.753	7.992	3.4	1.210	0.082	9.076	0.380	.	0.0050	0.0061901	0.0090	0.0013	0.0030	0	0.0095	0.0090	0.0124	0.0160	0.0055885	864	154602	rs117484558	0.0082	0.0082	0.0081	0.0083	0.0141	0.0081	0.0080	0.0134	0.0132	0.0014	0.0020	0.0048	0.0001	0.0065	0.0027	0.0087	0.0072	0.0141	0.0054	0.0054	0.0056	0.0053	0.0112	0.0051	0.0050	0.0088	0.0079	0.0014	0.0022	0.0034	0.0023	0	0.0075	0.0034	0.0082	0.0052	0.0112	0.116	0.28395	T	0.1	0.38742	T	0.0	0.02946	B	0.0	0.01387	B	0.000053	0.53742	D	0.000000	0.999962	0.52935	D	3.005	0.85968	M	-1.8	0.83893	D	-2.58	0.55662	D	0.621	0.63628	-0.6123	0.64308	T	0.237	0.60427	T	10	0.008538753	0.00194	T	.	.	.	0.380	0.69780	.	.	0.74133060669	0.73900	0.7890975023116747	0.78861	0.649699804287	0.58275	0.616685152054	0.55260	T	0.448357	0.79027	T	-0.285055	0.10139	T	-0.170562	0.57392	T	0.0364909913231952	0.03067	T	0.571043	0.20346	T	0.12033522	0.28318	0.105356894	0.25324	0.12033522	0.28318	0.105356894	0.25323	-8.583	0.64977	D	0.2293726037019945	0.31028	0.337	0.55713	B	.	.	4.656435	0.74273	26.1	0.97189278484177932	0.32758	0.64521	0.32434	D	AEFDBCI	0.191915	0.31909	N	-0.523301636129456	0.21328	1.13107	-0.435261523772592	0.23970	1.310039	0.999935064420117	0.46732	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.37	3.4	0.38031	1.353000	0.33649	7.253000	0.57936	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.412000	0.27050	0.1706:0.0:0.8294:0.0	9.076	0.35683	276	0.89131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1015.98	50	chr17	41586669	.	G	A	1015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.02;DP=1214;ExcessHet=0.0000;FS=1.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.65;MQRankSum=-1.930e+00;QD=11.81;ReadPosRankSum=-1.357e+00;SOR=0.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,38:86:99:0|1:41586642_G_A:1030,0,1154:41586642	20	0	1	0
chr17	41828920	41828920	T	C	exonic	NT5C3B	.	nonsynonymous SNV	NT5C3B:NM_052935:exon7:c.A437G:p.Y146C,	.	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.99	D	0.754	P	0.001	D	0.994	D	1.74	L	-1.78	D	-0.119	T	0.523	D	0.396	3.040	16.15	3.19	0.505	2.725	8.451	0.527	0.152914097345	.	.	0.0001	0	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs782636218	2.463e-05	2.463e-05	2.314e-05	2.613e-05	2.159e-05	1.803e-05	1.6e-05	1.46e-05	1.227e-05	0	0	0	0	3.744e-05	0	2.159e-05	0.0002	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.078	0.55530	T	0.114	0.36765	T	.	.	.	.	.	.	0.000950	0.40932	D	0.249304	0.993719	0.42029	D	1.87	0.49600	L	-1.78	0.83737	D	-2.73	0.63438	D	0.505	0.53708	-0.1193	0.79650	T	0.523	0.82197	D	10	0.35141474	0.51992	T	0.152914	0.83425	D	0.527	0.80007	.	.	0.736057821024	0.73370	0.5964584121782436	0.59575	0.50239789988	0.48599	0.352752506733	0.18326	T	0.61673	0.88796	D	-0.0903847	0.38012	T	-0.141906	0.59953	T	0.259205342978235	0.23280	T	0.588241	0.23235	T	0.25564036	0.48599	0.33857486	0.59634	0.25564036	0.48599	0.33857486	0.59633	-7.686	0.58910	D	.	.	0.077	0.12323	B	.;.;.;.	.;.;.;.	3.365414	0.46485	22.3	0.99119656896272446	0.52958	0.61426	0.31481	D	AEFBI	0.581194	0.58130	D	-0.122337387710274	0.36420	2.10498	-0.2482292110411	0.29833	1.674627	0.0186537409483866	0.13083	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.4	3.19	0.35720	2.850000	0.47993	1.408000	0.26256	0.665000	0.62972	0.114000	0.23067	0.955000	0.29136	0.888000	0.42677	0.1264:0.0:0.1436:0.73	8.451	0.32035	539	0.73055	.;.;.;.	.	.	.	.	.	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	2053.98	37	chr17	41828920	.	T	C	2053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=873;ExcessHet=0.0000;FS=1.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.447;SOR=0.828	GT:AD:DP:GQ:PL	0/1:76,77:153:99:2068,0,1905	20	0	1	0
chr17	42184507	42184507	G	C	exonic	HCRT	.	nonsynonymous SNV	HCRT:NM_001524:exon2:c.C43G:p.L15V,	.	.	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.999	D	0.976	D	0.380	U	0.927	D	1.67	L	-1.7	D	0.266	D	0.659	D	0.319	5.241	33	4.38	2.432	0.885	17.478	0.323	0.0523102601945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132e-06	2.052e-06	1.408e-06	2.87e-06	9.16e-07	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0	9.16e-07	3.408e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.24090	T	0.771	0.04461	T	0.999	0.77913	D	0.976	0.73562	D	0.380244	0.13399	U	0.586924	0.927198	0.36857	D	2.125	0.59049	M	-1.7	0.83072	D	0.38	0.03579	N	0.34	0.38129	0.266	0.87005	D	0.659	0.88144	D	10	0.54763544	0.64074	D	0.05231	0.65021	D	0.323	0.64522	0.638	0.77470	0.840425016916	0.83889	0.5766951461758126	0.57598	1.96447962958	0.93503	0.560749650002	0.47374	T	0.614701	0.87839	D	0.026862	0.55304	T	-0.199191	0.54724	T	0.965694427490234	0.67347	D	0.537746	0.18100	T	0.16168788	0.36195	0.20396304	0.44497	0.16168788	0.36195	0.20396304	0.44496	-4.787	0.34440	T	0.08987277991734725	0.05537	0.081	0.08176	B	.	.	2.498318	0.32247	18.98	0.99771205983049771	0.85918	0.97530	0.75350	D	ALL	0.290851	0.40212	N	0.445060890009647	0.63923	4.635744	0.40719817288903	0.62014	4.409838	1.0	0.98316	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.38	4.38	0.52019	0.969000	0.28967	3.741000	0.39650	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	17.478	0.87558	312	0.87382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	384.98	37	chr17	42184507	.	G	C	384.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.810e-01;DP=679;ExcessHet=0.0000;FS=1.356;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-7.200e-02;SOR=0.628	GT:AD:DP:GQ:PL	0/1:16,17:33:99:399,0,389	20	0	1	0
chr17	42989528	42989528	A	G	exonic	RUNDC1	.	nonsynonymous SNV	RUNDC1:NM_173079:exon3:c.A845G:p.N282S	.	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.001	B	0.002	N	0.962	D	0.605	N	2.29	T	-1.023	T	0.023	T	0.03	1.566	11.19	0.035	-0.136	1.053	8.963	0.060	0.00292174078804	.	.	0.0002	0	0	0	0	1.501e-05	0.0011	0.0012	0.0001488	23	154602	rs376014187	0.0001	0.0001	7.215e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	2.236e-05	0	2.519e-05	0	0.0003	2.968e-05	0.0001	0.0017	3.939e-05	3.937e-05	1.285e-05	6.711e-05	0.0008	1.714e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0008	0.481	0.08212	T	0.326	0.18789	T	0.0	0.02946	B	0.001	0.04355	B	0.001902	0.37691	N	0.250265	0.962448	0.38291	D	0.405	0.12330	N	2.29	0.17113	T	-0.78	0.21644	N	0.154	0.15888	-1.0234	0.22606	T	0.023	0.09832	T	10	0.022537053	0.00565	T	0.002922	0.06192	T	0.060	0.17295	0.302	0.27003	0.242825505644	0.23883	0.10565790387283629	0.10495	0.32879486703	0.34991	0.322991669178	0.13875	T	0.02569	0.19158	T	-0.692193	0.00041	T	-0.797143	0.01975	T	0.0107169794697029	0.00151	T	0.721228	0.33447	T	0.020297097	0.00583	0.028562257	0.01103	0.020297097	0.00583	0.028562257	0.01103	-0.517	0.00594	T	.	.	0.045	0.00052	B	.	.	0.668837	0.10374	7.099	0.94994080317047302	0.25948	0.85511	0.44651	D	AEFDGBI	0.128931	0.24690	N	-0.507047499775556	0.21852	1.162686	-0.368218132075832	0.25950	1.430322	0.999943836966115	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.35	0.035	0.13504	1.050000	0.30014	-0.992000	0.06676	-0.536000	0.04945	1.000000	0.71638	0.000000	0.08366	0.986000	0.61781	0.6194:0.0:0.3806:0.0	8.963	0.35019	255	0.89985	.	.	.	.	.	.	Uncertain significance	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	719.98	33	chr17	42989528	.	A	G	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.410e-01;DP=755;ExcessHet=0.0000;FS=3.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-8.810e-01;SOR=0.340	GT:AD:DP:GQ:PL	0/1:28,31:59:99:734,0,724	20	0	1	0
chr17	43013785	43013785	G	A	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon6:c.G572A:p.R191H	.	.	418	1059	42	3	0	48	0.0221607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.005	B	0.008	B	0.804	N	1.000	N	-0.14	N	0.85	T	-1.024	T	0.043	T	0.035	0.392	6.130	-1.77	-0.297	0.020	10.510	0.124	.	0.0070	0.00439297	0.0078	0.0010	0.0029	0.0002	0.0022	0.0105	0.0047	0.0106	0.0072315	1118	154602	rs146311145	0.0072	0.0072	0.0068	0.0075	0.0241	0.0070	0.0070	0.0209	0.0196	0.0009	0.0033	0.0500	0.0001	0.0031	0.0241	0.0063	0.0100	0.0119	0.0055	0.0055	0.0059	0.0051	0.0112	0.0052	0.0051	0.0088	0.0079	0.0010	0.0022	0.0033	0.0470	0	0.0017	0.0272	0.0071	0.0114	0.0112	0.474	0.11659	T	0.604	0.07842	T	0.005	0.12996	B	0.008	0.13708	B	0.804143	0.06787	N	1.087340	0.999974	0.18612	N	0.82	0.20857	L	0.85	0.47130	T	-1.65	0.42763	N	0.026	0.00770	-1.0243	0.22311	T	0.043	0.18326	T	10	0.0034869611	0.00062	T	.	.	.	0.124	0.34239	.	.	0.316198179892	0.31222	0.3796571607327325	0.37880	0.0828921084784	0.09354	0.216862440109	0.01137	T	0.006675	0.06097	T	-0.686016	0.00044	T	-0.750229	0.03477	T	0.00723688116875723	0.00083	T	0.684632	0.29288	T	0.030894008	0.02832	0.045393538	0.06098	0.030894008	0.02831	0.045393538	0.06098	-6.899	0.53292	T	.	.	0.071	0.04806	B	.;.	.;.	0.716264	0.10854	7.529	0.72552883588186612	0.10013	0.13481	0.17880	N	AEFDGBCI	0.066064	0.12918	N	-1.01362901966849	0.08320	0.3897128	-0.936659194844358	0.11234	0.5710384	0.998372640843774	0.36850	0.67177	0.52595	0	0.702456	0.74545	0	0.489635	0.07774	0	0.711	0.71501	0	.	.	5.22	-1.77	0.07551	-1.017000	0.03740	0.730000	0.21079	-0.106000	0.15538	0.000000	0.06391	0.001000	0.17328	0.241000	0.23027	0.5709:0.0:0.4291:0.0	10.510	0.44045	319	0.87030	Nmi/IFP 35 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2605.11	60	chr17	43013785	.	G	A	2605.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.99;DP=1296;ExcessHet=0.1072;FS=8.109;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=1.45;SOR=1.181	GT:AD:DP:GQ:PL	0/1:50,43:93:99:1133,0,1257	19	0	2	0
chr17	43021953	43021953	C	T	exonic	VAT1	.	nonsynonymous SNV	VAT1:NM_006373:exon1:c.G370A:p.G124R,	.	.	372	1142	8	0	0	8	0.0034904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.454	P	0.515	P	0.000	D	1.000	D	1.385	L	0.84	T	-0.759	T	0.173	T	0.319	4.902	28.2	3.84	1.966	6.701	15.528	0.228	.	.	0.00259585	0.0019	0.0001	0	0	0	1.698e-05	0.0039	0.0128	0.0014553	225	154602	rs377221508	0.0008	0.0008	0.0004	0.0011	0.0119	0.0007	0.0007	0.0113	0.0110	0	0	0	0.0001	0	0.0009	8.995e-06	0.0010	0.0119	0.0004	0.0004	0.0003	0.0006	0.0130	0.0004	0.0003	0.0105	0.0095	0	0	0.0001	0	0	0	0	0	0.0014	0.0130	0.026	0.46910	D	0.355	0.29540	T	0.454	0.36182	P	0.515	0.48040	P	0.000072	0.52346	D	0.168530	0.999559	0.81001	D	2.635	0.77114	M	0.84	0.47477	T	-3.06	0.63090	D	0.374	0.41557	-0.7591	0.57455	T	0.173	0.51595	T	10	0.010383159	0.00231	T	.	.	.	0.228	0.52768	0.808	0.92512	0.810640954071	0.80886	0.7867270252943331	0.78624	1.39135005619	0.85010	0.649019122124	0.59847	T	0.127768	0.45501	T	-0.399491	0.02333	T	-0.337222	0.40658	T	0.155232468014804	0.17512	T	0.973903	0.97165	D	0.5365815	0.69204	0.30586016	0.56612	0.5365815	0.69205	0.30586016	0.56611	-10.056	0.74246	D	.	.	0.492	0.66936	A	.;.	.;.	5.350841	0.89758	31	0.99793479443052047	0.87928	0.90065	0.50955	D	AEFDGBHCI	0.904877	0.85571	D	0.255777186668135	0.53924	3.559522	0.296689116216302	0.55345	3.697736	1.0	0.98316	0.733237	0.96898	0	0.748881	0.99253	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	3.84	3.84	0.43422	6.754000	0.74705	5.719000	0.49462	0.522000	0.23927	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	15.528	0.75659	348	0.85549	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	916.98	35	chr17	43021953	.	C	T	916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=784;ExcessHet=0.0000;FS=6.183;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.281;SOR=1.454	GT:AD:DP:GQ:PL	0/1:41,35:76:99:931,0,958	20	0	1	0
chr17	43904456	43904456	G	A	exonic	MPP2	.	nonsynonymous SNV	MPP2:NM_001278370:exon2:c.C140T:p.P47L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.273	B	0.011	B	.	.	1.000	D	0.55	N	3.09	T	-1.014	T	0.081	T	0.742	3.063	16.22	4.9	2.539	4.597	13.438	0.173	0.0364556557318	.	.	8.242e-05	0	0.0002	0	0	7.495e-05	0	0.0002	6.47e-05	10	154602	rs146765164	3.284e-05	3.283e-05	2.178e-05	4.401e-05	0.0002	2.543e-05	2.249e-05	0.0001	0.0001	0	0.0002	0	0	0	0	1.709e-05	6.624e-05	0.0002	3.286e-05	3.283e-05	3.854e-05	2.691e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	0.004	0.68238	D	0.01	0.72224	D	.	.	.	.	.	.	.	.	.	.	0.999942	0.81001	D	.	.	.	3.09	0.51952	T	-1.66	0.98311	N	0.748	0.76573	-1.0142	0.25593	T	0.081	0.32119	T	9	0.26201212	0.43665	T	0.036456	0.57003	D	0.173	0.43840	0.375	0.38830	0.706878895572	0.70432	0.14979602481463292	0.14901	0.637688771769	0.57507	0.812275230885	0.83840	D	0.027058	0.23185	T	-0.12219	0.32768	T	-0.117102	0.62039	T	0.0536729954183102	0.06134	T	0.869813	0.58094	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	0.74270	P	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.520951	0.70884	25.6	0.99492256118151001	0.67516	0.96884	0.71464	D	AEFBI	0.665610	0.63436	D	0.0200849375284677	0.42770	2.583232	0.187403856240246	0.49154	3.122231	0.999978903740579	0.50053	0.653281	0.48532	0	0.563428	0.19063	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	4.9	4.9	0.63643	4.830000	0.62434	11.591000	0.93406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:1.0:0.0	13.438	0.60545	596	0.68392	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1439.98	35	chr17	43904456	.	G	A	1439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=825;ExcessHet=0.0000;FS=2.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=-4.900e-02;SOR=0.454	GT:AD:DP:GQ:PL	0/1:56,52:108:99:1454,0,1394	20	0	1	0
chr17	44399973	44399973	C	A	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.G1870T:p.A624S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.044	B	0.014	B	0.149	N	1.000	N	0.345	N	4.34	T	-0.909	T	0.006	T	0.146	-0.588	1.363	1.89	0.733	0.310	10.951	0.010	0.0115334771582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.782	0.04302	T	0.044	0.21686	B	0.014	0.16862	B	0.149291	0.18022	N	0.621093	1	0.08975	N	0.345	0.11182	N	2.75	0.11622	T	.	.	.	0.106	0.09066	-0.9088	0.47001	T	0.006	0.01907	T	10	0.040855944	0.02690	T	0.011533	0.29247	T	.	.	0.246	0.18139	0.082315109003	0.07666	0.06779905791251553	0.06717	0.179806875035	0.20224	0.317229568958	0.13001	T	0.014093	0.12064	T	-0.296674	0.08977	T	-0.663928	0.08003	T	0.0210196919922205	0.00803	T	0.719828	0.33277	T	0.037167974	0.04714	0.053382456	0.08982	0.037167974	0.04713	0.053382456	0.08982	-2.425	0.05288	T	.	.	0.081	0.08368	B	.	.	1.518715	0.19502	14.29	0.68171566178604404	0.08577	0.33947	0.24951	N	AEFBCI	0.167206	0.29385	N	-0.905066518599619	0.10722	0.5137984	-0.836451028035589	0.13614	0.7071725	0.110125046787869	0.16624	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	1.89	0.24700	0.168000	0.16438	0.833000	0.21967	0.599000	0.40250	0.002000	0.15269	0.980000	0.30356	0.033000	0.13494	0.0:0.6906:0.0:0.3094	10.951	0.46542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2826.98	35	chr17	44399973	.	C	A	2826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.700e-01;DP=1129;ExcessHet=0.0000;FS=1.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=0.147;SOR=0.693	GT:AD:DP:GQ:PL	0/1:142,119:261:99:2841,0,3539	20	0	1	0
chr17	45846168	45846168	C	G	exonic	SPPL2C	.	nonsynonymous SNV	SPPL2C:NM_175882:exon1:c.C1262G:p.P421R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.001	N	1.000	D	3.54	H	0.12	T	0.224	D	0.506	D	0.973	2.567	14.54	5.17	2.688	3.539	16.204	0.544	0.0270219490642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.001242	0.39669	N	0.000000	1	0.81001	D	3.76	0.95097	H	0.12	0.61089	T	-8.65	0.97547	D	0.905	0.90590	0.224	0.86312	D	0.506	0.81377	D	10	0.98465145	0.98672	D	0.027022	0.49875	D	0.544	0.81018	0.864	0.95995	0.705773429643	0.70321	0.7190580348023236	0.71848	0.570105786278	0.53176	0.529340922832	0.42941	T	0.214801	0.57648	T	0.32338	0.84711	D	0.226736	0.84510	D	0.997812867164612	0.92489	D	0.975769	0.91515	D	0.80553246	0.84261	0.8487671	0.91422	0.80553246	0.84263	0.8487671	0.91423	-12.186	0.85745	D	.	.	0.867	0.80682	P	.	.	4.536909	0.71281	25.6	0.99760727062023091	0.85011	0.95091	0.63404	D	AEFBI	0.498601	0.53263	N	0.708799881749221	0.80211	7.244	0.574350545561274	0.73106	5.916613	0.999993968468925	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	5.344000	0.65751	5.917000	0.51107	-0.224000	0.07868	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:1.0:0.0:0.0	16.204	0.81926	618	0.66225	.	.	.	.	.	.	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	3852.98	90	chr17	45846168	.	C	G	3852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.800e-02;DP=2745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=2.28;SOR=0.682	GT:AD:DP:GQ:PL	0/1:135,152:287:99:3867,0,3531	20	0	1	0
chr17	46067549	46067549	G	A	exonic	KANSL1	.	nonsynonymous SNV	KANSL1:NM_001193466:exon5:c.C1652T:p.T551I	Koolen-De Vries syndrome, Autosomal dominant	YES	3	1518	1	0	0	1	0.000329272	0.0082	0.082	376119	not_provided|Koolen-de_Vries_syndrome	MedGen:C3661900|MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443,Orphanet:96169	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.605	P	0.171	B	0.015	N	1.000	D	0.345	N	0.89	T	-1.104	T	0.052	T	0.31	2.016	12.70	3.13	0.519	2.017	8.954	0.032	0.0115738278123	.	.	0.0003	0	0.0030	0	0	4.496e-05	0.0011	0	0.0002587	40	154602	rs778178483	7.954e-05	7.74e-05	9.176e-05	6.733e-05	0.0015	6.728e-05	6.289e-05	0.0012	0.0011	0	0.0015	0	0	0	0	3.423e-05	0.0001	0	3.944e-05	3.941e-05	5.141e-05	2.691e-05	0.0004	1.716e-05	1.13e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0	0	0	0.074	0.34621	T	0.143	0.38160	T	.	.	.	.	.	.	0.015302	0.28282	N	0.414164	1	0.81001	D	.	.	.	0.89	0.45636	T	-1.67	0.39887	N	0.518	0.55106	-1.1044	0.03598	T	0.052	0.22114	T	9	0.013761759	0.00291	T	0.011574	0.29327	T	0.032	0.07718	0.274	0.22528	0.117191471859	0.11215	0.48463193866998194	0.48383	0.516667203	0.49549	0.46329960227	0.33763	T	.	.	.	-0.448382	0.01155	T	-0.45738	0.26884	T	0.0248115787521781	0.01248	T	0.878412	0.61048	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.51341	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.346942	0.46141	22.3	0.99333349918954461	0.59856	0.94770	0.62270	D	AEFBI	0.272466	0.38809	N	-0.152775370061714	0.35115	2.013016	-0.0532126920741563	0.37352	2.185828	0.447617493224262	0.20510	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.23	3.13	0.35090	2.157000	0.41946	4.028000	0.41312	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.1691:0.6677:0.1632	8.954	0.34965	405	0.82444	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	532.98	33	chr17	46067549	.	G	A	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=775;ExcessHet=0.0000;FS=0.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.20;ReadPosRankSum=0.789;SOR=0.534	GT:AD:DP:GQ:PL	0/1:41,24:65:99:547,0,971	20	0	1	0
chr17	49049420	49049425	CCAGGC	-	exonic	IGF2BP1	.	nonframeshift deletion	IGF2BP1:NM_001160423:exon13:c.1293_1298del:p.Q434_A435del	.	.	427	1086	9	0	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0004	9.766e-05	8.718e-05	0	0.0002	0.0003	0	0.0011	3.84e-05	1	26028	rs761658543	0.0003	0.0003	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	0	8.944e-05	0.0011	0	5.617e-05	0.0009	0.0003	0.0005	0.0011	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	7.216e-05	0	0.0003	0.0017	0	0	0	0.0005	0.0009	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1740.94	35	chr17	49049419	.	ACCAGGC	A	1740.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.750e-01;DP=790;ExcessHet=0.0000;FS=1.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.32;ReadPosRankSum=-5.690e-01;SOR=0.459	GT:AD:DP:GQ:PL	0/1:32,46:78:99:1755,0,1143	20	0	1	0
chr17	59155004	59155004	G	A	exonic	SKA2	.	nonsynonymous SNV	SKA2:NM_001100595:exon1:c.C80T:p.P27L,	.	.	434	1076	11	1	0	13	0.00600462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.037	B	0.024	B	.	.	1.000	D	.	.	.	.	-0.986	T	0.125	T	0.127	2.295	13.63	0.53	0.119	1.675	4.197	0.237	0.0198948607709	0.0026	0.00119808	0.0026	0.0006	0.0016	0	0	0.0036	0.0033	0.0030	0.0026132	404	154602	rs77282282	0.0034	0.0034	0.0034	0.0035	0.0043	0.0033	0.0033	0.0034	0.0034	0.0005	0.0016	0.0172	2.519e-05	0.0005	0.0043	0.0035	0.0034	0.0032	0.0026	0.0026	0.0026	0.0027	0.0037	0.0024	0.0023	0.0032	0.0031	0.0006	0.0175	0.0023	0.0161	0	0.0002	0	0.0036	0.0014	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702818	0.81001	D	.	.	.	.	.	.	-10.0	0.98823	D	0.618	0.64393	-0.9863	0.33518	T	0.125	0.42945	T	7	0.01042515	0.00232	T	0.019895	0.42377	T	0.237	0.54074	.	.	0.349429436713	0.34558	.	.	.	.	0.348934918642	0.17766	T	.	.	.	-0.489614	0.00653	T	-0.473738	0.25114	T	0.0396309734099284	0.03624	T	0.647135	0.25820	T	.	.	.	.	.	.	.	.	-3.683	0.19067	T	.	.	0.135	0.29283	B	.;.	.;.	1.961696	0.24919	16.57	0.95534931734476136	0.27173	0.53036	0.29274	D	ALL	0.130745	0.24941	N	-0.249863423605621	0.31109	1.741104	-0.143701896069541	0.33650	1.927196	0.999999999947507	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	6.06	0.53	0.16296	1.728000	0.37727	2.559000	0.33304	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.322:0.0:0.5273:0.1507	4.197	0.09908	0	0.99858	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2280.98	34	chr17	59155004	.	G	A	2280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.670e-01;DP=870;ExcessHet=0.0000;FS=2.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=1.84;SOR=0.508	GT:AD:DP:GQ:PL	0/1:70,90:160:99:2295,0,1785	20	0	1	0
chr17	63699057	63699057	C	T	exonic	LIMD2	.	nonsynonymous SNV	LIMD2:NM_030576:exon3:c.G55A:p.G19S,	.	.	404	1109	9	0	0	9	0.00404131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.0	B	0.171	N	1.000	D	-0.695	N	-0.93	T	-0.945	T	0.101	T	0.088	-1.284	0.041	-4.88	-1.171	-0.162	11.562	0.136	0.018259786244	0.0010	0.000199681	0.0013	0.0006	0.0012	0	0.0002	0.0019	0.0016	0.0006	0.0010867	168	154602	rs199625729	0.0020	0.0020	0.0020	0.0021	0.0025	0.0020	0.0020	0.0024	0.0024	0.0003	0.0007	0	0	9.85e-05	0.0017	0.0025	0.0014	0.0007	0.0012	0.0012	0.0014	0.0011	0.0023	0.0011	0.0010	0.0020	0.0019	0.0003	0	0.0006	0.0003	0	9.459e-05	0.0070	0.0023	0.0005	0.0004	1.0	0.00964	T	1.0	0.10245	T	0.001	0.07471	B	0.0	0.01387	B	0.171426	0.17363	N	0.543405	0.999837	0.49637	D	-0.28	0.03718	N	-0.93	0.75215	T	1.68	0.00591	N	0.117	0.19995	-0.9453	0.41764	T	0.101	0.37392	T	10	0.0048351884	0.00103	T	0.01826	0.40264	T	0.136	0.36778	.	.	0.402471007487	0.39861	0.2260512552945152	0.22520	0.498502261291	0.48324	0.520569205284	0.41707	T	0.006384	0.05814	T	-0.519586	0.00442	T	-0.525602	0.19728	T	0.00236466595125569	0.00024	T	0.519848	0.16911	T	0.024026211	0.01196	0.039776552	0.04147	0.024026211	0.01195	0.039776552	0.04147	-3.156	0.11951	T	.	.	0.071	0.10352	B	.;.;.;.;.	.;.;.;.;.	0.095564	0.04982	1.543	0.87350829412901176	0.17165	0.00882	0.03481	N	AEFDGBHCI	0.122202	0.23724	N	-1.68890620482619	0.00882	0.03816228	-1.67237802133155	0.01265	0.05700937	0.999999984683324	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.594344	0.31042	0	0.621717	0.48901	0	.	.	4.33	-4.88	0.02884	-0.422000	0.07110	-0.206000	0.10898	-0.278000	0.06506	0.000000	0.06391	0.028000	0.21151	0.800000	0.37734	0.0:0.2608:0.0:0.7392	11.562	0.50033	890	0.26919	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	646.98	21	chr17	63699057	.	C	T	646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=555;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=1.35;SOR=0.527	GT:AD:DP:GQ:PL	0/1:7,22:29:99:661,0,155	20	0	1	0
chr17	63880586	63880586	C	T	exonic	GH2	.	stopgain	GH2:NM_022557:exon4:c.G642A:p.W214X,	.	.	1	1497	23	1	0	25	0.00828089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	N	1.000	D	.	.	.	.	.	.	.	.	.	1.109	9.524	0.194	-0.056	-0.043	7.117	.	.	0.0018	0.000798722	0.0026	0.0004	0.0021	0	0.0024	0.0033	0.0033	0.0030	0.0023803	368	154602	rs150668018	0.0025	0.0025	0.0024	0.0026	0.0102	0.0024	0.0024	0.0081	0.0074	0.0004	0.0028	0.0014	2.519e-05	0.0030	0.0102	0.0025	0.0027	0.0032	0.0021	0.0021	0.0022	0.0021	0.0031	0.0019	0.0019	0.0028	0.0027	0.0004	0	0.0030	0.0012	0	0.0017	0.0170	0.0031	0.0038	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.00162	N	1929.950000	0.999975	0.53665	D	.	.	.	.	.	.	.	.	.	0.102	0.08506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.187871	0.22573	T	-0.0447461	0.67381	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	0.124428	0.05214	1.722	0.44111833942599404	0.03368	0.02410	0.06819	N	AEFDBI	0.021955	0.01039	N	-0.4385393961644	0.24131	1.300767	-0.830537710644818	0.13755	0.7153523	9.36666290586609E-5	0.04910	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	2.34	0.194	0.14424	-0.085000	0.11215	-1.672000	0.04943	-0.662000	0.04349	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.8261:0.0:0.1739	7.117	0.24602	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1499.98	36	chr17	63880586	.	C	T	1499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=835;ExcessHet=0.0000;FS=5.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.92;MQRankSum=-9.800e-01;QD=15.00;ReadPosRankSum=0.659;SOR=1.277	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1514,0,1405	20	0	1	0
chr17	64055764	64055764	G	A	exonic	ERN1	.	nonsynonymous SNV	ERN1:NM_001433:exon13:c.C1583T:p.T528M,	.	.	381	1133	8	0	0	8	0.00351803	.	.	2222942	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.017	B	0.001	B	0.007	N	0.996	N	-0.69	N	0.2	T	-1.057	T	0.061	T	0.091	1.845	12.13	2.44	0.925	2.561	4.387	0.114	0.0158499193337	.	0.000199681	0.0002	0.0001	0.0001	0	0	2.205e-05	0	0.0013	0.0001358	21	154602	rs546366953	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	2.991e-05	2.265e-05	0	2.527e-05	1.915e-05	0.0021	0.0002	0.0001	0.0011	0.0001	0.0001	0.0002	8.055e-05	0.0010	7.572e-05	6.277e-05	0.0004	0.0003	9.625e-05	0	0	0	0	0	0	0.0001	0	0.0010	0.136	0.26085	T	0.142	0.33330	T	0.017	0.17573	B	0.001	0.04355	B	0.007468	0.31378	N	0.309004	0.996324	0.23049	N	0.205	0.09354	N	0.2	0.60111	T	-0.33	0.12472	N	0.161	0.16864	-1.0574	0.12414	T	0.061	0.25310	T	10	0.0123716295	0.00266	T	0.01585	0.36807	T	0.114	0.32008	.	.	0.401767401478	0.39795	0.2162798800807302	0.21543	0.439492444205	0.43977	0.285005092621	0.08199	T	0.176892	0.52700	T	-0.522025	0.00428	T	-0.568181	0.15617	T	0.0196864910711745	0.00671	T	0.857714	0.54741	D	0.022903724	0.00988	0.044467606	0.05767	0.022903724	0.00988	0.044467606	0.05767	-5.009	0.36938	T	.	.	0.077	0.06479	B	.	.	2.304195	0.29484	18.14	0.96727146315015444	0.30873	0.40896	0.26538	N	AEFDBI	0.142514	0.26498	N	-0.578639723423026	0.19595	1.026739	-0.397556632567177	0.25069	1.376499	0.990441978563673	0.32155	0.562547	0.31514	0	0.577304	0.33150	0	0.55559	0.18752	1	0.635551	0.53088	0	.	.	4.97	2.44	0.28875	2.590000	0.45819	1.503000	0.26970	0.654000	0.53741	0.506000	0.27002	0.988000	0.31051	0.572000	0.30699	0.4888:0.0:0.5112:0.0	4.387	0.10753	831	0.39019	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2492.11	35	chr17	64055764	.	G	A	2492.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.61;DP=915;ExcessHet=0.1072;FS=0.492;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=2.24;SOR=0.757	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1209,0,1277	19	0	2	0
chr17	65053567	65053567	T	C	exonic	GNA13	.	nonsynonymous SNV	GNA13:NM_001282425:exon2:c.A160G:p.I54V	.	.	437	1077	8	0	0	8	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.874	P	0.926	D	0.000	D	1.000	D	1.525	L	-2.66	D	0.708	D	0.786	D	0.536	3.387	17.43	5.42	2.058	3.986	15.496	0.577	0.0632272270042	0.0002	0.000399361	0.0002	0	0.0003	0.0002	0	0.0002	0	0.0005	0.0002199	34	154602	rs201626569	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	8.963e-05	0.0002	0	0.0003	1.872e-05	0.0014	0.0003	0.0003	0.0006	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0004	0.0001	0	6.535e-05	0	0	0	0	0.0005	0	0.0002	0.088	0.35349	T	0.125	0.37037	T	0.874	0.48047	P	0.926	0.66095	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.44	0.36004	L	-2.66	0.90272	D	-0.59	0.17624	N	0.359	0.40063	0.708	0.93271	D	0.786	0.92733	D	10	0.15986237	0.30025	T	0.063227	0.68900	D	0.577	0.82912	.	.	0.738346921943	0.73600	0.5162074885067635	0.51543	0.710361414038	0.61678	0.593113064766	0.51934	T	0.388412	0.74909	T	-0.117855	0.33475	T	-0.0708075	0.65568	T	0.0831566354084816	0.10385	T	0.783222	0.42574	T	0.21397711	0.43790	0.114751406	0.27700	0.21397711	0.43790	0.114751406	0.27699	-4.556	0.36644	T	.	.	0.107	0.19879	B	.;.	.;.	2.922234	0.38794	20.8	0.99662929608073791	0.78074	0.96961	0.71893	D	AEFDBHI	0.573232	0.57650	D	0.544900695550755	0.69771	5.40467	0.558676749192964	0.72004	5.741852	0.999999999999393	0.74766	0.744818	0.98587	0	0.672317	0.65289	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	3.968000	0.56516	2.407000	0.32622	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.496	0.75386	603	0.67726	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1115.98	33	chr17	65053567	.	T	C	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=2.01;SOR=0.639	GT:AD:DP:GQ:PL	0/1:57,46:103:99:1130,0,1435	20	0	1	0
chr17	67959642	67959642	-	CCTCCAGCCCCTCCAGCCCCTCCAGCC	exonic	BPTF	.	nonframeshift insertion	BPTF:NM_182641:exon24:c.8028_8029insCCTCCAGCCCCTCCAGCCCCTCCAGCC:p.P2684_P2685insAPPAPPAPP	.	.	428	734	271	57	32	417	0.207771	.	.	1264390	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	9.484e-05	0	0	0.0005	0	0.0003	0.0001153	3	26028	.	0.0022	0.0024	0.0023	0.0022	0.0074	0.0022	0.0021	0.0056	0.0049	0.0006	0.0003	0.0030	0	0.0008	0.0074	0.0025	0.0026	0.0008	0.0019	0.0021	0.0020	0.0018	0.0029	0.0017	0.0016	0.0026	0.0024	0.0007	0	0.0018	0.0026	0	0.0006	0.0145	0.0029	0.0025	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	13627.31	45	chr17	67959642	.	T	TCCTCCAGCC,TCCTCCAGCCCCTCCAGCCCCTCCAGCC	13627.31	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.749;DP=1382;ExcessHet=0.0874;FS=0.000;InbreedingCoeff=0.2929;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=23.25;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/1:44,32,0:76:99:1164,0,1723,1299,1820,3118	14	1	5	0
chr17	67992921	67992921	A	G	exonic	C17orf58	.	stoploss	C17orf58:NM_181656:exon2:c.T226C:p.X76R,	.	.	430	1060	32	0	0	32	0.0148699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-0.549	1.514	-1.23	-0.300	-0.163	0.473	.	.	0.0068	0.00319489	0.0077	0.0011	0.0056	0	0.0026	0.0118	0.0089	0.0024	0.0075808	1172	154602	rs190313223	0.0086	0.0086	0.0087	0.0086	0.0182	0.0085	0.0085	0.0154	0.0143	0.0011	0.0046	0.0116	2.519e-05	0.0026	0.0182	0.0101	0.0082	0.0021	0.0063	0.0063	0.0066	0.0059	0.0106	0.0059	0.0058	0.0099	0.0097	0.0018	0	0.0042	0.0144	0	0.0020	0.0102	0.0106	0.0057	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.741056	0.00020	T	-0.824928	0.01355	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207906	0.05916	2.358	0.59305894313049745	0.06193	0.02565	0.07104	N	AEFDGBHCI	.	.	.	-0.929955126842265	0.10146	0.4834939	-1.13365104741547	0.07065	0.3422861	0.999998403543863	0.74766	0.08998	0.02334	0	0.090139	0.02499	0	0.054209	0.00285	2	0.143876	0.04018	0	0.116346	0.24258	2.72	-1.23	0.08977	-0.321000	0.08060	-0.793000	0.07406	-0.212000	0.08331	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4314:0.2196:0.1354:0.2136	0.473	0.00499	909	0.22467	.	.	.	C17orf58	Heart_Atrial_Appendage	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2614.11	34	chr17	67992921	.	A	G	2614.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.719e+00;DP=872;ExcessHet=0.1072;FS=2.375;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.092;SOR=0.523	GT:AD:DP:GQ:PL	0/1:65,64:129:99:1362,0,1765	19	0	2	0
chr17	72124022	72124022	C	A	exonic	SOX9	.	nonsynonymous SNV	SOX9:NM_000346:exon3:c.C1165A:p.P389T,	Acampomelic campomelic dysplasia, Autosomal dominant;Campomelic dysplasia, Autosomal dominant;Campomelic dysplasia with autosomal sex reversal, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1328877	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.361	B	0.034	B	0.016	U	1.000	D	0.345	N	-1.07	T	-0.758	T	0.217	T	0.125	2.738	15.11	4.18	1.870	1.512	16.108	0.138	0.0870135506429	.	.	3.46e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs753584114	1.786e-05	2.052e-05	1.093e-05	2.488e-05	0.0003	1.243e-05	1.056e-05	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.17069	T	0.318	0.19246	T	0.361	0.33905	B	0.034	0.22546	B	0.015566	0.28211	U	0.334519	0.999785	0.49076	D	2.015	0.55033	M	-1.07	0.76948	T	-1.76	0.41618	N	0.035	0.01004	-0.7585	0.57487	T	0.217	0.57928	T	10	0.12680069	0.24110	T	0.087014	0.74851	D	0.138	0.37187	0.176	0.08257	0.588800658163	0.58555	0.2300194752723587	0.22916	1.02818934709	0.75339	0.824259519577	0.85681	D	0.514728	0.82914	D	-0.332174	0.05949	T	-0.390978	0.34438	T	0.109951011836529	0.13418	T	0.782722	0.41876	T	0.25632077	0.48670	0.1608238	0.37440	0.25632077	0.48670	0.1608238	0.37439	-4.689	0.33270	T	0.21170665445218886	0.28391	0.073	0.04764	B	.;.	.;.	2.457989	0.31662	18.81	0.98938200706727808	0.48883	0.67125	0.33320	D	AEFDGBHCI	0.387455	0.46743	N	-0.389616575337592	0.25838	1.40561	-0.269054394373061	0.29123	1.629192	0.999999999999998	0.74766	0.685219	0.55550	0	0.672317	0.65289	0	0.674405	0.61402	0	0.63947	0.58350	0	.	.	4.18	4.18	0.48473	1.565000	0.35993	3.856000	0.40113	0.524000	0.24156	0.639000	0.28076	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	16.108	0.81046	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	985.98	34	chr17	72124022	.	C	A	985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=792;ExcessHet=0.0000;FS=3.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=0.935;SOR=1.136	GT:AD:DP:GQ:PL	0/1:40,35:75:99:1000,0,1005	20	0	1	0
chr17	73201862	73201862	G	A	exonic	COG1	.	nonsynonymous SNV	COG1:NM_018714:exon7:c.G2035A:p.V679M,	Congenital disorder of glycosylation, type IIg	.	.	.	.	.	.	.	.	.	.	1446402	COG1_congenital_disorder_of_glycosylation	MONDO:MONDO:0012637,MedGen:C2931011,OMIM:611209,Orphanet:263508	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.336	B	0.019	B	0.000	D	0.873	D	1.445	L	1.91	T	-1.042	T	0.044	T	0.271	1.185	9.816	3.36	1.295	2.359	9.422	0.017	0.00487490657069	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229728305	5.472e-06	5.472e-06	2.722e-06	8.25e-06	2.319e-05	2.35e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	4.496e-06	1.656e-05	2.319e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-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	0.221	0.18889	T	0.232	0.33780	T	0.336	0.33356	B	0.013	0.16460	B	0.000198	0.48115	D	0.148036	0.872728	0.35594	D	1.495	0.37439	L	1.91	0.23283	T	-0.1	0.08495	N	0.039	0.01274	-1.0419	0.16741	T	0.044	0.19111	T	10	0.10020012	0.18233	T	0.004875	0.12224	T	0.017	0.02790	0.242	0.17524	0.301789629655	0.29801	.	.	0.108429119813	0.12225	0.362176299095	0.19703	T	0.007546	0.11823	T	-0.24086	0.15239	T	-0.486901	0.23716	T	0.207738071680069	0.20834	T	0.889711	0.62218	D	0.055862147	0.10912	0.07928001	0.17834	0.055862147	0.10912	0.07928001	0.17834	-3.52	0.16713	T	0.07055172326588655	0.02735	0.080	0.13783	B	.;.	.;.	2.045765	0.26006	16.97	0.90705341072837375	0.19956	0.51207	0.28842	D	AEFDBCIJ	0.133686	0.25343	N	-0.192578300364029	0.33443	1.897368	-0.112845440726949	0.34872	2.010841	0.992240826757666	0.32771	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.44	3.36	0.37579	2.392000	0.44087	1.544000	0.27247	0.618000	0.50648	0.992000	0.37556	0.905000	0.28034	0.896000	0.43308	0.0:0.4735:0.4079:0.1186	9.422	0.37722	466	0.78352	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	947.98	36	chr17	73201862	.	G	A	947.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.210e-01;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-1.056e+00;SOR=0.636	GT:AD:DP:GQ:PL	0/1:48,42:90:99:962,0,1183	20	0	1	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6471	53123.61	98	chr17	80090216	.	G	C,*	53123.61	.	AC=21,1;AF=0.618,0.029;AN=34;BaseQRankSum=1.74;DP=3278;ExcessHet=5.2224;FS=0.555;InbreedingCoeff=-0.1442;MLEAC=25,1;MLEAF=0.735,0.029;MQ=55.51;MQRankSum=-5.208e+00;QD=22.16;ReadPosRankSum=-1.655e+00;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,61,0:140:99:0|1:80090158_A_G:1819,0,3128,2057,3305,5362:80090158	1	6	9	4
chr17	80346013	80346013	C	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon29:c.C7678T:p.P2560S,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.967	D	0.000	D	1.000	D	2.67	M	1.91	T	-0.703	T	0.196	T	0.396	2.473	14.23	5.13	2.646	7.529	18.759	0.265	0.0318653279283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999918	0.51042	D	.	.	.	1.72	0.26588	T	-7.66	0.95511	D	0.614	0.63120	-0.7031	0.60290	T	0.196	0.55013	T	10	0.7384324	0.74786	D	0.031865	0.53843	D	0.265	0.57870	.	.	0.575045364607	0.57173	.	.	1.08423785368	0.77231	0.767387509346	0.77033	T	0.284914	0.65770	T	-0.00925805	0.50369	T	-0.251075	0.49712	T	0.999060332775116	0.96056	D	0.980002	0.93225	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.68276	P	.;.	.;.	3.643750	0.51676	23.1	0.96507638980641508	0.30065	0.98849	0.87668	D	AEFDGBI	0.847648	0.76450	D	0.818593130469345	0.87252	9.154863	0.753970942322189	0.86454	8.894099	0.999999999449475	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	7.603000	0.82048	7.564000	0.60548	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:1.0:0.0:0.0	18.759	0.91809	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2991.98	36	chr17	80346013	.	C	T	2991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.95;DP=1195;ExcessHet=0.0000;FS=2.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.34;ReadPosRankSum=0.196;SOR=0.880	GT:AD:DP:GQ:PL	0/1:92,103:195:99:3006,0,2358	20	0	1	0
chr17	81460363	81460363	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon24:c.G5992A:p.V1998I	.	.	432	1040	47	3	0	53	0.0248476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.002	B	0.000	N	0.999	N	-2.28	N	1.26	T	-0.954	T	0.010	T	0.167	-0.711	0.937	2.3	0.230	5.510	7.368	0.103	.	0.0090	0.00998403	0.0159	0.0063	0.0067	0.0002	0.0063	0.0143	0.0145	0.0410	0.0097153	1502	154602	rs34680524	0.0099	0.0099	0.0085	0.0112	0.0303	0.0097	0.0096	0.0292	0.0288	0.0041	0.0043	0.0037	0.0001	0.0026	0.0162	0.0093	0.0100	0.0303	0.0081	0.0081	0.0079	0.0083	0.0299	0.0077	0.0076	0.0259	0.0244	0.0054	0	0.0074	0.0052	0	0.0036	0.0136	0.0099	0.0085	0.0299	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.000449	0.44317	N	0.091404	0.999131	0.21587	N	.	.	.	1.26	0.36330	T	0.72	0.02099	N	0.139	0.14054	-0.9544	0.40203	T	0.010	0.03856	T	10	0.007214874	0.00164	T	.	.	.	0.103	0.29403	.	.	0.0138822411134	0.00435	0.1990185493906276	0.19818	0.0687072840253	0.07698	0.380222648382	0.22289	T	0.04827	0.27968	T	-0.542436	0.00324	T	-0.528263	0.19461	T	0.00198792404725697	0.00020	T	0.828317	0.49240	T	0.022924742	0.00991	0.050592054	0.07971	0.022924742	0.00991	0.050592054	0.07971	1.392	0.00091	T	.	.	0.063	0.01449	B	.;.	.;.	1.685483	0.21476	15.22	0.81057149420605201	0.13498	0.18993	0.20485	N	AEFGBCI	0.057178	0.10630	N	-0.845303115850774	0.12166	0.5913537	-0.575123179589667	0.20142	1.083889	0.998976047960637	0.38110	0.646311	0.45356	0	0.588066	0.40923	0	0.603688	0.36954	0	0.699875	0.68795	0	.	.	4.6	2.3	0.27735	5.509000	0.66731	7.966000	0.76021	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.8036:0.0:0.1964:0.0	7.368	0.25959	.	.	.;.	PDE6G	Whole_Blood	.	.	rs34680524	Uncertain significance	0	0	0	0	0	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	3384.11	36	chr17	81460363	.	G	A	3384.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.99;DP=986;ExcessHet=0.1072;FS=0.454;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.191;SOR=0.658	GT:AD:DP:GQ:PL	0/1:74,54:128:99:1335,0,1758	19	0	2	0
chr17	81536183	81536183	C	T	exonic	FSCN2	.	nonsynonymous SNV	FSCN2:NM_001077182:exon3:c.C1021T:p.R341W	Retinitis pigmentosa 30	.	0	1520	2	0	0	2	0.000657462	.	.	846511	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.992	D	0.000	D	0.999	D	2.455	M	1.45	T	-0.715	T	0.178	T	0.623	3.140	16.50	2.42	2.157	0.424	12.803	0.242	0.236948481749	.	.	5.612e-05	0	0	0	0	5.102e-05	0	0.0002	2.59e-05	4	154602	rs774101992	2.967e-05	3.01e-05	3.154e-05	2.779e-05	0.0002	2.236e-05	1.987e-05	8.155e-05	6.361e-05	6.003e-05	4.629e-05	0	2.543e-05	0	0.0002	1.628e-05	0.0001	0.0001	3.288e-05	3.284e-05	1.285e-05	5.385e-05	7.244e-05	1.261e-05	7.98e-06	1.921e-05	1.032e-05	7.244e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	0.004	0.65419	D	0.004	0.74150	D	1.0	0.90584	D	0.982	0.75477	D	0.000272	0.46590	D	0.150678	0.99893	0.45716	D	2.565	0.75005	M	1.45	0.32958	T	-3.79	0.71639	D	0.607	0.63798	-0.7148	0.59717	T	0.178	0.52396	T	10	0.6162586	0.67722	D	0.236948	0.88522	D	0.242	0.54781	0.599	0.72984	0.69193853668	0.68929	0.5778549564693469	0.57714	0.42870744388	0.43186	0.517102599144	0.41219	T	0.547279	0.84607	D	-0.187919	0.22565	T	-0.292374	0.45526	T	0.779930770397186	0.45045	D	0.957804	0.84101	D	0.2542238	0.48449	0.29539672	0.55571	0.2542238	0.48449	0.29539672	0.55570	-10.412	0.77414	D	0.5014380624579805	0.57659	0.110	0.25850	B	.;.	.;.	4.872576	0.79831	27.2	0.99908320555794961	0.97875	0.64562	0.32447	D	AEFDBCI	0.612807	0.60074	D	0.180611373950839	0.50270	3.218527	0.0136126093584109	0.40346	2.406366	0.999208789649505	0.38742	0.764865	0.99124	0	0.550933	0.16991	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	4.69	2.42	0.28720	0.283000	0.18605	2.553000	0.33274	0.549000	0.26987	0.014000	0.18986	0.999000	0.35428	0.984000	0.60418	0.2663:0.7337:0.0:0.0	12.803	0.56975	.	.	Fascin domain|Fascin 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	830.98	35	chr17	81536183	.	C	T	830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=796;ExcessHet=0.0000;FS=0.767;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.84;ReadPosRankSum=0.954;SOR=0.582	GT:AD:DP:GQ:PL	0/1:70,36:106:99:845,0,1682	20	0	1	0
chr17	81941276	81941280	CCTGG	-	exonic	MYADML2	.	frameshift deletion	MYADML2:NM_001145113:exon3:c.462_466del:p.Q155Efs*29,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274229325	4.293e-06	4.104e-06	1.412e-06	7.253e-06	0.0002	1.54e-06	1.01e-06	7.4e-07	2.1e-07	0	0	0	0	0	0.0002	2.781e-06	3.45e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1722.94	35	chr17	81941275	.	ACCTGG	A	1722.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=1227;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.93;ReadPosRankSum=0.448;SOR=0.708	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1737,0,1597	20	0	1	0
chr18	9254360	9254362	GAT	-	exonic	ANKRD12	.	nonframeshift deletion	ANKRD12:NM_001083625:exon8:c.1024_1026del:p.D345del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.251e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs767111396	4.796e-06	4.31e-05	6.816e-06	2.755e-06	2.528e-05	2e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	2.528e-05	0	0	4.5e-06	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2338.94	34	chr18	9254359	.	AGAT	A	2338.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.493;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.85;ReadPosRankSum=0.076;SOR=0.671	GT:AD:DP:GQ:PL	0/1:69,62:131:99:2353,0,2682	20	0	1	0
chr18	9255473	9255473	A	G	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.A2137G:p.T713A	.	.	440	1057	25	0	0	25	0.0116877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.001	B	0.035	N	1.000	N	-0.145	N	-2.99	D	-0.741	T	0.291	T	0.042	-0.950	0.341	-0.551	-0.263	-0.378	1.711	0.162	.	0.0076	0.00299521	0.0091	0.0024	0.0050	0	0.0080	0.0130	0.0082	0.0056	0.0087062	1346	154602	rs114230285	0.0092	0.0091	0.0094	0.0090	0.0104	0.0090	0.0090	0.0102	0.0102	0.0019	0.0043	0.0050	2.587e-05	0.0059	0.0078	0.0104	0.0082	0.0058	0.0059	0.0059	0.0066	0.0053	0.0099	0.0056	0.0055	0.0092	0.0090	0.0018	0	0.0040	0.0049	0	0.0036	0.0034	0.0099	0.0085	0.0048	0.433	0.09458	T	0.797	0.04142	T	0.0	0.02946	B	0.0	0.04355	B	0.035276	0.24665	N	0.444910	1	0.08975	N	-0.06	0.04898	N	-2.99	0.92108	D	-0.33	0.12472	N	0.074	0.04790	-0.7407	0.58417	T	0.291	0.66288	T	10	0.0035377443	0.00063	T	.	.	.	0.162	0.41843	.	.	0.151262610727	0.14761	0.007321108822763013	0.00698	.	.	0.310919225216	0.12045	T	0.004863	0.04280	T	-0.505411	0.00533	T	-0.48644	0.23764	T	0.000794020032158277	0.00007	T	0.50265	0.15781	T	0.023449413	0.01085	0.015422944	0.00007	0.023449413	0.01085	0.015422944	0.00007	-3.784	0.20834	T	.	.	0.067	0.02428	B	.;.	.;.	-0.456095	0.02011	0.179	0.75694506732214184	0.11175	0.01337	0.04602	N	AEFBI	0.072961	0.14577	N	-1.06985989756284	0.07203	0.3339344	-0.984005802213982	0.10145	0.5090687	0.52689607684772	0.21143	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.95	-0.551	0.11230	-0.562000	0.06041	0.092000	0.14529	-0.113000	0.14837	0.000000	0.06391	0.067000	0.22148	0.970000	0.54328	0.3209:0.1537:0.3752:0.1502	1.711	0.02718	356	0.85138	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	547.98	34	chr18	9255473	.	A	G	547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=800;ExcessHet=0.0000;FS=2.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-1.060e+00;SOR=0.561	GT:AD:DP:GQ:PL	0/1:26,21:47:99:562,0,652	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	1/2:4,248,154:406:99:.:.:13048,6272,7496,7176,0,9143	3	2	4	0
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|1:286,154,0:440:99:0|1:9887408_AG_*:5707,0,10104,7426,11598,23391:9887408	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|1:286,154,0:440:99:0|1:9887408_AG_*:5707,0,10104,7426,11598,23391:9887408	7	3	8	2
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.794	P	0.216	B	0.002	N	1.000	D	2.125	M	3.61	T	-1.134	T	0.021	T	0.559	3.885	19.75	5.86	2.771	3.660	14.969	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1024.34	23	chr18	12814235	.	C	T	1024.34	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-1.786e+00;DP=832;ExcessHet=4.7172;FS=190.289;InbreedingCoeff=-0.2940;MLEAC=9;MLEAF=0.225;MQ=59.98;MQRankSum=0.00;QD=2.05;ReadPosRankSum=0.165;SOR=10.577	GT:AD:DP:GQ:PL	0/1:34,22:56:99:120,0,566	11	0	9	1
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q,	.	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.455	P	0.137	B	.	.	1.000	N	1.495	L	1.38	T	-1.046	T	0.060	T	0.15	-1.338	0.030	-0.976	-0.290	0.960	4.177	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	6662.91	35	chr18	14513679	.	T	G	6662.91	.	AC=12;AF=0.286;AN=42;BaseQRankSum=4.54;DP=3722;ExcessHet=9.6308;FS=15.336;InbreedingCoeff=-0.4158;MLEAC=12;MLEAF=0.286;MQ=50.97;MQRankSum=-9.346e+00;QD=2.29;ReadPosRankSum=-3.404e+00;SOR=2.155	GT:AD:DP:GQ:PL	0/1:144,20:164:99:183,0,3894	9	0	12	0
chr18	14808717	14808717	T	G	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon26:c.T2359G:p.L787V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.013	T	0.057	T	.	-0.652	1.133	-1.1	-0.648	-1.016	.	0.001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.193e-06	2.056e-06	0	4.446e-06	9.435e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.435e-07	3.533e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	382.98	34	chr18	14808717	.	T	G	382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.325e+00;DP=594;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.01;MQRankSum=1.13;QD=14.18;ReadPosRankSum=-9.780e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/1:9,18:27:99:397,0,261	20	0	1	0
chr18	14851518	14851518	A	G	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon42:c.A3574G:p.T1192A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.017	B	0.005	B	.	.	1.000	N	1.59	L	2.34	T	-1.012	T	0.035	T	0.042	-0.215	2.958	0.212	0.007	1.791	6.188	0.045	0.00291464088749	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231796608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.135	0.34124	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.83	0.20963	L	2.34	0.16351	T	-1.11	0.28703	N	0.03	0.00717	-1.0115	0.26447	T	0.035	0.15074	T	9	0.065399736	0.08819	T	0.002915	0.06162	T	0.045	0.12272	.	.	0.0482279557977	0.04254	0.006452707389506797	0.00613	0.0318142403543	0.03299	0.849252104759	0.89502	D	0.003922	0.03333	T	-0.387684	0.02784	T	-0.794657	0.02039	T	0.102265505721601	0.12604	T	0.229577	0.03081	T	0.036108065	0.04378	0.040937223	0.04540	0.036108065	0.04378	0.040937223	0.04539	-4.339	0.28720	T	.	.	0.179	0.39012	B	.	.	0.356051	0.07288	3.897	0.29208554072945636	0.01538	0.08831	0.14701	N	AEFDGBI	0.045963	0.07577	N	-1.34053043592119	0.03223	0.1436517	-1.44559681357169	0.02810	0.129943	0.0927884093635131	0.16167	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	0.212	0.14516	1.721000	0.37654	.	.	-2.121000	0.00385	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.7483:0.2517:0.0:0.0	6.188	0.19722	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	1	0	0	0	0.02381	1156.98	34	chr18	14851518	.	A	G	1156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.089e+00;DP=797;ExcessHet=0.0000;FS=4.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.40;MQRankSum=-1.345e+00;QD=13.45;ReadPosRankSum=-1.189e+00;SOR=0.320	GT:AD:DP:GQ:PL	0/1:34,52:86:99:1171,0,836	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	0/1:27,29:56:99:246,0,377	1	0	20	0
chr18	33746048	33746048	T	G	exonic	ASXL3	.	nonsynonymous SNV	ASXL3:NM_030632:exon12:c.T6200G:p.L2067R,	Bainbridge-Ropers syndrome	.	9	1502	10	1	0	12	0.00397878	.	.	215555	Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome|not_provided|ASXL3-related_disorder|not_specified	MONDO:MONDO:0014205,MedGen:C4750837,OMIM:615485,Orphanet:352577|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.994	D	0.844	P	.	.	0.995	D	0.695	N	2.38	T	-1.123	T	0.042	T	0.706	3.001	16.01	5.2	1.967	4.197	15.078	0.139	0.00838704930115	0.0070	0.00239617	0.0063	0.0013	0.0030	0	0.0011	0.0096	0.0034	0.0040	0.0062483	966	154602	rs144534810	0.0096	0.0096	0.0098	0.0094	0.0113	0.0094	0.0094	0.0111	0.0111	0.0012	0.0050	0.0076	0	0.0008	0.0057	0.0113	0.0088	0.0041	0.0067	0.0067	0.0067	0.0066	0.0105	0.0063	0.0062	0.0099	0.0096	0.0018	0.0011	0.0095	0.0078	0	0.0011	0.0342	0.0105	0.0096	0.0019	0.001	0.78490	D	0.046	0.49120	D	0.994	0.66517	D	0.844	0.60373	P	.	.	.	.	0.994832	0.42435	D	1.04	0.26193	L	2.38	0.15843	T	-0.62	0.18248	N	0.391	0.43223	-1.1234	0.02127	T	0.042	0.18118	T	9	0.007854581	0.00178	T	0.008387	0.22206	T	0.139	0.37390	.	.	0.0934897674506	0.08844	0.6560833145381665	0.65544	0.168159749984	0.18958	0.671352028847	0.63031	T	0.053984	0.29597	T	-0.348477	0.04824	T	-0.263945	0.48430	T	0.0181071546874178	0.00533	T	0.59824	0.22282	T	0.4112579	0.61504	0.51290697	0.71854	0.4112579	0.61504	0.51290697	0.71854	-4.585	0.31982	T	0.6633343462471121	0.73718	0.440	0.61715	A	.	.	4.042049	0.59845	24.1	0.99750389958594343	0.84228	0.94429	0.61137	D	AEFDGBI	0.711550	0.66495	D	0.421137562254106	0.62584	4.476888	0.459852399805416	0.65351	4.812963	0.999998901175806	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	4.196000	0.58203	6.107000	0.53619	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	15.078	0.71762	531	0.73574	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1987.98	36	chr18	33746048	.	T	G	1987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.320e-01;DP=976;ExcessHet=0.0000;FS=1.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-1.810e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:79,90:169:99:2002,0,1823	20	0	1	0
chr18	36718000	36718000	C	T	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281739:exon15:c.C2126T:p.A709V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.944	D	0.146	N	1.000	N	1.1	L	2.27	T	-1.058	T	0.107	T	0.092	0.570	7.082	4.13	1.089	2.514	7.327	0.048	0.00579109969768	7.7e-05	.	3.377e-05	0	0.0002	0	0	3.034e-05	0	0	3.88e-05	6	154602	rs146524905	3.77e-05	3.967e-05	3.818e-05	3.721e-05	0.0002	2.965e-05	2.661e-05	8.911e-05	6.463e-05	2.989e-05	0.0002	0	0	0	0.0002	3.512e-05	8.302e-05	1.168e-05	2.629e-05	2.627e-05	2.569e-05	2.692e-05	0.0001	8.14e-06	5.14e-06	2.261e-05	9.07e-06	2.413e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.068	0.35726	T	0.29	0.21011	T	0.001	0.64738	B	0.002	0.40614	B	0.146252	0.18119	N	0.488061	1	0.08975	N	2.25	0.63811	M	1.54	0.30401	T	-1.34	0.33401	N	0.061	0.03726	-1.0585	0.12134	T	0.107	0.39051	T	10	0.078346014	0.12477	T	0.005791	0.15042	T	0.048	0.13305	.	.	0.246926113748	0.24311	0.21432052352625625	0.21348	0.161166695707	0.18189	0.324776887894	0.14144	T	0.01042	0.09410	T	-0.463008	0.00941	T	-0.605296	0.12371	T	0.0854900479316711	0.10674	T	0.893711	0.63970	D	0.062850885	0.13171	0.09788601	0.23316	0.062850885	0.13171	0.09788601	0.23315	-4.85	0.36004	T	.	.	0.089	0.13032	B	.;.;.	.;.;.	2.671843	0.34836	19.74	0.97709223630835595	0.35483	0.57682	0.30441	D	AEFDBI	0.310499	0.41649	N	-0.185083112960452	0.33754	1.918681	-0.211770350341817	0.31111	1.757751	0.866642591993319	0.25331	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.0	4.13	0.47661	2.930000	0.48618	3.949000	0.40660	0.599000	0.40250	0.420000	0.26330	0.994000	0.32194	0.102000	0.18378	0.1666:0.746:0.0:0.0874	7.327	0.25737	878	0.29785	.;.;.	.	.	.	.	.	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	1314.98	36	chr18	36718000	.	C	T	1314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.667;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=1.51;SOR=0.619	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1329,0,1237	20	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.958	D	0.563	P	0.066	N	1.000	N	1.525	L	0.96	T	-1.043	T	0.086	T	0.141	-0.215	2.958	0.957	-0.051	1.229	2.399	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	2337.79	46	chr18	37067196	.	T	C	2337.79	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-6.944e+00;DP=2815;ExcessHet=3.5521;FS=193.128;InbreedingCoeff=-0.2495;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.16;ReadPosRankSum=1.87;SOR=12.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,47:242:99:0|1:37067196_T_C:207,0,6428:37067196	13	0	8	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.004	B	0.066	N	1.000	N	0.485	N	1.0	T	-1.034	T	0.038	T	0.11	-2.968	0.001	1.01	0.473	0.289	0.508	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	425.43	46	chr18	37067197	.	G	A	425.43	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-7.394e+00;DP=2559;ExcessHet=1.1607;FS=156.282;InbreedingCoeff=-0.1350;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.32;ReadPosRankSum=1.76;SOR=9.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,47:242:99:0|1:37067196_T_C:207,0,6428:37067196	16	0	5	0
chr18	45663865	45663865	G	A	exonic	SLC14A2	.	nonsynonymous SNV	SLC14A2:NM_007163:exon11:c.G1432A:p.V478I	.	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.005	B	0.005	B	0.271	N	1.000	D	1.87	L	1.29	T	-1.036	T	0.090	T	0.151	3.031	16.11	4.46	2.578	2.844	10.126	0.069	0.0076056943464	0.0018	.	0.0014	0.0001	0.0013	0	0.0005	0.0020	0	0.0011	0.0014553	225	154602	rs150313115	0.0024	0.0024	0.0025	0.0023	0.0028	0.0023	0.0023	0.0027	0.0027	0.0003	0.0008	0.0016	0	0.0003	0.0007	0.0028	0.0023	0.0012	0.0014	0.0014	0.0016	0.0013	0.0028	0.0013	0.0012	0.0024	0.0023	0.0003	0	0.0004	0.0012	0	0	0	0.0028	0.0009	0.0008	0.06	0.37326	T	0.354	0.17268	T	0.005	0.12996	B	0.005	0.11217	B	0.271488	0.15119	N	0.629214	0.887842	0.27935	N	2.295	0.65404	M	1.29	0.35775	T	-0.02	0.07299	N	0.214	0.23884	-1.0359	0.18575	T	0.090	0.34683	T	10	0.014525443	0.00305	T	0.007606	0.20192	T	0.069	0.20116	.	.	0.0551355673512	0.04727	0.4659877895542462	0.46517	0.167689513179	0.18908	0.34398496151	0.17033	T	0.144645	0.48138	T	-0.527335	0.00398	T	-0.533935	0.18895	T	0.0195424297055923	0.00658	T	.	.	.	0.0354843	0.04184	0.054159045	0.09262	0.0354843	0.04184	0.054159045	0.09261	-3.507	0.16529	T	.	.	0.081	0.08081	B	.;.	.;.	2.761019	0.36214	20.2	0.99739897002858979	0.83409	0.73877	0.36135	D	AEFBI	0.158108	0.28372	N	-0.061269694468375	0.39100	2.300471	0.0537772868847524	0.42254	2.552615	0.999835688219983	0.43792	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.52	4.46	0.53567	2.894000	0.48339	8.432000	0.77174	-0.108000	0.15293	0.995000	0.38783	1.000000	0.68203	0.098000	0.18187	0.1054:0.0:0.8946:0.0	10.126	0.41823	971	0.05719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	712.98	33	chr18	45663865	.	G	A	712.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.473e+00;DP=765;ExcessHet=0.0000;FS=2.175;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=0.480;SOR=0.906	GT:AD:DP:GQ:PL	0/1:27,32:59:99:727,0,670	20	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.073	N	0.983	D	-3.46	N	1.84	T	-0.904	T	0.008	T	0.124	-0.621	1.242	3.76	1.045	2.422	13.494	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	4590.35	69	chr18	65824683	.	C	G	4590.35	.	AC=20;AF=0.500;AN=40;BaseQRankSum=0.297;DP=1960;ExcessHet=43.6797;FS=200.513;InbreedingCoeff=-0.9189;MLEAC=20;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=1.02;SOR=12.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,32:80:99:0|1:65824683_C_G:256,0,946:65824683	0	0	20	1
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.000	N	1.000	D	-0.06	N	-0.34	T	-1.000	T	0.106	T	0.201	-0.358	2.310	3.71	0.793	5.868	10.024	0.086	0.0104317513341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0	0.0001	2.767e-05	4.173e-05	0.0005	0.0005	0.0003	0.0001	0	6.588e-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	0.001	0.07471	B	0.002	0.08700	B	0.000007	0.62929	N	0.106321	0.999956	0.52396	D	.	.	.	-0.34	0.68474	T	0.49	0.02993	N	0.356	0.39760	-1.0003	0.29831	T	0.106	0.38685	T	10	0.17882419	0.32987	T	0.010432	0.26958	T	0.125	0.34456	0.516	0.61611	0.557831953242	0.55443	0.32797818657124184	0.32710	0.19016546305	0.21331	0.641342043877	0.58755	T	0.051017	0.28760	T	-0.0924065	0.37678	T	-0.370512	0.36829	T	0.962732970714569	0.66454	D	0.929107	0.73907	D	0.025876695	0.01576	0.035724007	0.02878	0.025876695	0.01576	0.035724007	0.02878	-4.704	0.33453	T	.	.	0.076	0.05756	B	.;.	.;.	1.506156	0.19358	14.22	0.4022302230854744	0.02825	0.97863	0.77695	D	AEFBI	0.690181	0.65060	D	-0.529217151314464	0.21140	1.119708	-0.32364514690563	0.27337	1.516199	0.922846515319302	0.26722	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.71	0.41733	5.906000	0.69639	0.174000	0.15553	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.726000	0.34967	0.9163:0.0:0.0837:0.0	10.024	0.41234	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2308	1270.66	37	chr18	79373903	.	A	G	1270.66	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-1.120e+00;DP=912;ExcessHet=2.0135;FS=176.158;InbreedingCoeff=-0.3148;MLEAC=8;MLEAF=0.308;MQ=60.00;MQRankSum=0.00;QD=5.08;ReadPosRankSum=0.253;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,14:30:99:0|1:79373902_C_T:379,0,563:79373902	7	0	6	8
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.354	B	0.097	B	0.000	D	1.000	D	2.775	M	-0.78	T	-0.794	T	0.230	T	0.523	1.377	10.53	-2.28	-0.455	-0.373	8.239	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	2387.64	32	chr18	79373905	.	C	G	2387.64	.	AC=10;AF=0.500;AN=20;BaseQRankSum=2.00;DP=837;ExcessHet=9.8992;FS=418.465;InbreedingCoeff=-0.4008;MLEAC=16;MLEAF=0.800;MQ=60.00;MQRankSum=0.00;QD=6.15;ReadPosRankSum=1.06;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,14:30:99:0|1:79373902_C_T:379,0,563:79373902	0	0	10	11
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.019	B	0.031	B	0.000	D	1.000	D	0.325	N	-1.0	T	-0.993	T	0.086	T	0.404	1.590	11.27	3.95	2.415	0.944	7.951	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,14,0:30:99:0|1:79373902_C_T:379,0,563,427,605,1032:79373902	4	0	7	9
chr18	79373906	79373906	C	T	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.682	P	0.361	B	0.000	D	1.000	D	0.83	L	-1.06	T	-0.935	T	0.119	T	0.428	2.268	13.54	3.95	2.415	0.944	7.951	0.093	0.0284690929236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.554	0.41464	P	0.197	0.43233	B	0.000044	0.53742	D	0.072519	0.999999	0.58761	D	.	.	.	-1.06	0.76819	T	-2.04	0.46842	N	0.573	0.62950	-0.9349	0.43409	T	0.119	0.41648	T	10	0.361637	0.52779	T	0.028469	0.51139	D	0.365	0.68495	0.508	0.60386	0.815369968599	0.81363	0.8176144227679487	0.81718	0.338732872668	0.35836	0.746733427048	0.73965	T	0.144628	0.48135	T	0.0232865	0.54826	T	-0.204327	0.54237	T	0.985363662242889	0.76380	D	0.961204	0.85427	D	0.28799716	0.51806	0.31295186	0.57294	0.28799716	0.51806	0.31295186	0.57294	-11.447	0.83762	D	.	.	0.676	0.71986	P	.;.	.;.	3.098208	0.41745	21.4	0.99739806707809964	0.83409	0.69529	0.34224	D	AEFBI	0.189841	0.31708	N	-0.293001453477025	0.29417	1.631174	-0.168557634840095	0.32700	1.863048	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,14,0:30:99:0|1:79373902_C_T:379,0,563,427,605,1032:79373902	4	0	7	9
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:30,0,23,0:53:99:.:.:1089,1229,2998,0,1452,1337,1229,2998,1452,2998	1	10	5	0
chr19	691995	691995	G	A	exonic	PRSS57	.	nonsynonymous SNV	PRSS57:NM_001308209:exon3:c.C241T:p.R81C	.	.	429	1076	15	2	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.892	P	0.057	N	1.000	N	1.965	M	-2.54	D	-0.483	T	0.075	T	0.344	2.623	14.73	-3.68	-0.262	0.275	4.661	0.364	.	0.0005	0.0181709	0.0131	0.0001	0.0033	0.1229	0.0003	0.0007	0.0063	0.0241	0.0082082	1269	154602	rs76977862	0.0037	0.0038	0.0037	0.0038	0.1050	0.0036	0.0036	0.1019	0.1007	0.0002	0.0012	0.0004	0.1050	0.0013	0.0031	0.0002	0.0044	0.0214	0.0042	0.0043	0.0031	0.0055	0.0927	0.0040	0.0039	0.0858	0.0831	0.0001	0	0.0004	0.0003	0.0927	0.0018	0	0.0003	0.0033	0.0224	.	.	.	0.049	0.49120	D	0.998	0.73220	D	0.892	0.63276	P	0.057210	0.02095	N	2.309790	1	0.08975	N	1.65	0.42232	L	.	.	.	.	.	.	0.337	0.38129	-0.4828	0.69267	T	0.075	0.30210	T	10	0.0027598143	0.00043	T	.	.	.	0.364	0.68407	.	.	0.24896430686	0.24499	0.3307757033672906	0.32990	0.0849568686431	0.09603	0.43369615078	0.29715	T	0.310892	0.68282	T	-0.500311	0.00569	T	-0.414874	0.31663	T	0.0506395642369326	0.05612	T	0.775222	0.40690	T	0.36636472	0.58315	0.2687452	0.52747	0.36636472	0.58316	0.2687452	0.52746	-7.427	0.57095	T	.	.	0.276	0.52630	B	.;.	.;.	2.755273	0.36121	20.2	0.99553447963465358	0.71273	0.02967	0.07808	N	AEFI	0.108193	0.21531	N	-0.452267172667099	0.23662	1.272	-0.744613108377847	0.15854	0.8359072	7.77420006893371E-6	0.01202	0.514905	0.20481	0	0.573888	0.26702	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.28	-3.68	0.04175	-0.065000	0.11575	0.144000	0.15210	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0896:0.4038:0.3696:0.1371	4.661	0.12030	994	0.00715	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1195.98	37	chr19	691995	.	G	A	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=901;ExcessHet=0.0000;FS=5.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=1.45;SOR=1.277	GT:AD:DP:GQ:PL	0/1:47,44:91:99:1210,0,1110	20	0	1	0
chr19	1787158	1787158	A	T	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon25:c.T2987A:p.L996H	.	.	428	1072	22	0	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.879	P	0.000	D	1.000	D	3.395	M	-2.62	D	0.959	D	0.858	D	0.744	2.877	15.59	4.25	1.685	8.797	12.823	0.791	.	0.0007	0.00259585	0.0030	0	0.0010	0	0	0.0016	0.0108	0.0136	0.0020181	312	154602	rs200106210	0.0015	0.0015	0.0012	0.0018	0.0113	0.0014	0.0014	0.0100	0.0098	8.972e-05	0.0007	0.0128	2.523e-05	1.886e-05	0.0113	0.0006	0.0027	0.0106	0.0011	0.0011	0.0010	0.0011	0.0100	0.0009	0.0009	0.0077	0.0069	2.406e-05	0	0.0003	0.0124	0	0	0.0102	0.0009	0.0009	0.0100	0.001	0.78490	D	0.021	0.58089	D	0.998	0.73220	D	0.816	0.58888	P	0.000065	0.52346	D	0.078047	0.980305	0.39652	D	3.67	0.94359	H	-2.62	0.90017	D	-5.45	0.85468	D	0.814	0.80964	0.959	0.96523	D	0.858	0.95258	D	10	0.019571215	0.00439	T	.	.	.	0.791	0.93108	.	.	0.894014465091	0.89296	0.53269945904347	0.53194	0.478852830938	0.46947	0.497497439384	0.38479	T	0.414104	0.76776	T	-0.0160005	0.49420	T	0.213635	0.83852	D	0.127613595384541	0.15159	T	0.715628	0.32820	T	0.72139674	0.79239	0.6979147	0.82208	0.77133715	0.82130	0.7310875	0.84111	-13.241	0.90331	D	.	.	0.541	0.66394	A	.;.	.;.	4.184609	0.63024	24.5	0.98070360785366339	0.38023	0.97819	0.77366	D	AEFGBHCI	0.911787	0.87154	D	0.537951208265048	0.69350	5.34464	0.353545343044294	0.58720	4.044432	0.99999724342468	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.25	4.25	0.49658	8.782000	0.91448	10.816000	0.83832	0.750000	0.87069	1.000000	0.71638	0.996000	0.32793	0.074000	0.16894	1.0:0.0:0.0:0.0	12.823	0.57087	988	0.01987	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	721.98	34	chr19	1787158	.	A	T	721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.220e-01;DP=746;ExcessHet=0.0000;FS=3.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=8.000e-03;SOR=0.626	GT:AD:DP:GQ:PL	0/1:28,30:58:99:736,0,663	20	0	1	0
chr19	1805931	1805931	C	G	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon9:c.G619C:p.E207Q	.	.	429	1090	2	0	1	3	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	0.725	D	2.79	M	-1.29	T	0.765	D	0.686	D	0.299	3.771	19.14	3.75	1.904	3.711	14.679	0.468	0.0504869883364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.72454	0.33653	D	3.605	0.93784	H	-1.29	0.79475	T	-2.56	0.60188	D	0.561	0.71143	0.765	0.93982	D	0.686	0.89165	D	10	0.66654754	0.70461	D	0.050487	0.64262	D	0.468	0.76289	0.387	0.40788	0.891256671117	0.89018	0.6913434148138818	0.69074	0.440762058902	0.44078	0.511945188046	0.40494	T	0.686729	0.90854	D	0.0571413	0.59253	T	-0.155697	0.58736	T	0.994954526424408	0.86582	D	0.957004	0.87589	D	0.8680031	0.88704	0.67476267	0.80905	0.8680031	0.88706	0.67476267	0.80906	-10.476	0.76709	D	.	.	0.416	0.62869	A	.;.;.	.;.;.	4.847063	0.79187	27.1	0.99807380318874994	0.89174	0.97687	0.76416	D	AEFBI	0.509873	0.53916	D	0.609865490429506	0.73797	6.025351	0.503700896441069	0.68238	5.19267	0.0252085331082764	0.13633	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.75	3.75	0.42236	3.950000	0.56384	7.432000	0.58801	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	14.679	0.68613	982	0.03397	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1557.98	37	chr19	1805931	.	C	G	1557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=842;ExcessHet=0.0000;FS=2.406;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-5.860e-01;SOR=0.926	GT:AD:DP:GQ:PL	0/1:66,60:126:99:1572,0,1629	20	0	1	0
chr19	2939269	2939291	CACCACCCTTACCCAAGGAGGCA	0	exonic	ZNF77	.	.	.	.	.	542	911	21	2	46	71	0.0135355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1384.19	45	chr19	2939269	.	CACCACCCTTACCCAAGGAGGCA	*,C	1384.19	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.05;DP=2044;ExcessHet=0.0082;FS=4.200;InbreedingCoeff=0.4474;MLEAC=3,1;MLEAF=0.071,0.024;MQ=59.54;MQRankSum=4.48;QD=2.58;ReadPosRankSum=-2.704e+00;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,63,0:165:99:.:.:1481,0,3398,1787,3592,5379	18	0	2	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|1:0,369,0:369:99:1|1:4511635_C_G:12868,1108,0,12868,1108,12868:4511635	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|1:3,105,0:108:99:1|1:4511635_C_G:4588,190,0,4597,316,4723:4511635	0	9	3	8
chr19	4511718	4511718	T	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	139161.99	105	chr19	4511718	.	T	*,C	139161.99	.	AC=1,18;AF=0.038,0.692;AN=26;BaseQRankSum=2.11;DP=8846;ExcessHet=2.2649;FS=2.542;InbreedingCoeff=-0.0055;MLEAC=1,25;MLEAF=0.038,0.962;MQ=56.65;MQRankSum=-5.673e+00;QD=32.12;ReadPosRankSum=0.575;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:18,0,92:110:99:0|1:4511635_C_G:3809,3863,4619,0,756,479:4511635	0	0	0	8
chr19	6534749	6534749	C	T	exonic	TNFSF9	.	nonsynonymous SNV	TNFSF9:NM_003811:exon3:c.C448T:p.R150W,	.	.	414	1081	27	0	0	27	0.0123344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.967	D	0.257	B	0.407	U	1.000	N	0	N	-3.73	D	-0.006	T	0.638	D	0.178	1.776	11.90	1.5	0.828	-0.327	8.476	0.256	0.156715041905	0.0002	0.000599042	0.0016	0.0002	0.0013	0.0009	0	0.0007	0.0077	0.0048	0.000608	94	154602	rs77313944	0.0005	0.0005	0.0003	0.0007	0.0043	0.0005	0.0005	0.0040	0.0038	6.029e-05	7.121e-05	0.0029	0.0006	0	0.0040	0.0001	0.0011	0.0043	0.0004	0.0004	0.0003	0.0004	0.0052	0.0003	0.0003	0.0036	0.0031	0.0001	0	6.541e-05	0.0026	0.0012	0	0	0.0002	0	0.0052	0.012	0.54683	D	0.006	0.70582	D	0.967	0.56408	D	0.257	0.39298	B	0.407458	0.04571	U	1.486760	1	0.08975	N	0.345	0.11182	N	-3.73	0.95458	D	-3.58	0.69118	D	0.133	0.12913	-0.0060	0.82132	T	0.638	0.87344	D	10	0.014418662	0.00303	T	0.156715	0.83744	D	0.256	0.56694	.	.	0.814758757958	0.81302	0.4046565733981127	0.40381	0.104834384068	0.11861	0.353660434484	0.18459	T	0.65478	0.89567	D	-0.31116	0.07648	T	-0.22121	0.52620	T	0.0678301304311287	0.08344	T	0.359864	0.08266	T	0.42899168	0.62686	0.21123959	0.45544	0.42899168	0.62687	0.21123959	0.45543	-7.576	0.58143	D	.	.	0.182	0.39477	B	.	.	1.624958	0.20752	14.89	0.99018241354323389	0.50527	0.06716	0.12738	N	AEFDBHCI	0.055189	0.10098	N	-0.640434869499832	0.17739	0.915376	-0.74969168509557	0.15730	0.8287335	0.999977776660373	0.50053	0.685219	0.55550	0	0.672317	0.65289	0	0.674405	0.61402	0	0.655142	0.61905	0	.	.	4.13	1.5	0.22029	-0.875000	0.04314	0.184000	0.15665	0.526000	0.24426	0.000000	0.06391	0.005000	0.19230	0.010000	0.09038	0.5435:0.4565:0.0:0.0	8.476	0.32173	964	0.07719	Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor 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	1195.98	35	chr19	6534749	.	C	T	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=804;ExcessHet=0.0000;FS=1.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=1.55;SOR=0.490	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1210,0,1004	20	0	1	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	.	.	.	.	.	.	0.996	N	0	N	.	.	-0.998	T	0.035	T	0.085	0.963	8.927	0.534	0.295	1.986	5.982	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	769.34	89	chr19	7871678	.	G	C	769.34	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-3.686e+00;DP=1708;ExcessHet=6.1002;FS=184.238;InbreedingCoeff=-0.3275;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=0.814;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,17:80:99:.:.:157,0,1200	10	0	10	1
chr19	8885665	8885665	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon61:c.A41231G:p.N13744S,	.	.	427	1087	7	0	1	8	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.917	P	0.915	D	0.677	U	.	.	1.875	L	2.62	T	-0.936	T	0.121	T	0.052	0.361	5.958	-6.81	-3.213	-1.898	7.535	0.026	0.00778774216405	.	0.000599042	0.0006	0	0.0021	0	0.0002	0.0007	0.0011	0.0002	0.0006274	97	154602	rs200034208	0.0004	0.0004	0.0004	0.0004	0.0080	0.0004	0.0004	0.0062	0.0055	0.0002	0.0019	0.0030	0	1.873e-05	0.0080	0.0003	0.0009	0.0002	0.0005	0.0005	0.0005	0.0005	0.0020	0.0004	0.0004	0.0014	0.0012	0	0	0.0020	0.0029	0	0	0.0034	0.0004	0.0014	0.0004	0.143	0.25355	T	0.109	0.37449	T	.	.	.	.	.	.	0.677227	0.06071	U	1.270180	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.69	0.19720	N	0.133	0.12913	-0.9356	0.43303	T	0.121	0.42058	T	9	0.0050973296	0.00110	T	0.007788	0.20668	T	0.045	0.12272	.	.	0.0138822411134	0.00435	0.2538184944056412	0.25295	.	.	0.202915936708	0.00546	T	.	.	.	-0.687575	0.00043	T	-0.79051	0.02151	T	0.0212829370191823	0.00830	T	0.270573	0.04555	T	.	.	.	.	.	.	.	.	-1.803	0.02518	T	.	.	0.080	0.07841	B	.	.	-0.943135	0.00856	0.030	0.51618427193325223	0.04596	0.00659	0.02856	N	AEFBI	0.033601	0.04018	N	-1.75824916017505	0.00655	0.02827615	-2.00815151153331	0.00295	0.0129998	0.243931175949956	0.18603	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.4	-6.81	0.01543	-2.590000	0.00974	.	.	-1.283000	0.01266	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4517:0.2274:0.3209	7.535	0.26875	952	0.10565	SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2952.98	36	chr19	8885665	.	T	C	2952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=971;ExcessHet=0.0000;FS=1.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=-2.086e+00;SOR=0.825	GT:AD:DP:GQ:PL	0/1:91,108:199:99:2967,0,2391	20	0	1	0
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I,	.	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.984	D	0.964	D	.	.	.	.	0.49	N	2.21	T	-1.029	T	0.047	T	0.503	2.024	12.72	1.25	0.783	0.218	4.503	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2778	8877.76	382	chr19	8888745	.	G	A,C	8877.76	.	AC=6,4;AF=0.167,0.111;AN=36;BaseQRankSum=-3.070e-01;DP=10156;ExcessHet=6.1002;FS=0.787;InbreedingCoeff=-0.3771;MLEAC=7,4;MLEAF=0.194,0.111;MQ=56.21;MQRankSum=-1.029e+01;QD=1.61;ReadPosRankSum=-1.286e+00;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:462,0,74:536:99:0|1:8888745_G_C:1576,2966,21724,0,18758,18536:8888745	8	0	6	3
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	0/1:247,79,46,42:421:99:.:.:3245,0,10291,1316,8598,11695,2341,8872,10189,13437	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|1:293,74,46:413:99:0|1:8888826_T_*:2225,0,12080,1176,10371,13340:8888826	1	0	19	0
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A,	.	.	419	1095	8	0	0	8	0.00363967	0	0.03	3210996	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	.	.	-1.87	N	4.67	T	-0.925	T	0.001	T	0.052	-0.720	0.909	-2.32	-0.515	0.101	2.013	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	487.16	47	chr19	8899972	.	T	C	487.16	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.437e+00;DP=1756;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0519;MLEAC=2;MLEAF=0.048;MQ=59.19;MQRankSum=-1.505e+01;QD=1.02;ReadPosRankSum=0.366;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,22:210:99:0|1:8899972_T_C:323,0,7808:8899972	19	0	2	0
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I,	.	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	3214956	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.997	D	0.958	D	.	.	.	.	1.735	L	4.43	T	-1.031	T	0.017	T	0.282	-0.196	3.049	1.16	0.926	0.085	5.678	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	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	1	0	0	0	0.07143	521.68	47	chr19	8899974	.	G	A	521.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.328e+00;DP=1769;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0767;MLEAC=3;MLEAF=0.071;MQ=59.20;MQRankSum=-1.467e+01;QD=0.73;ReadPosRankSum=0.784;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,22:214:99:0|1:8899972_T_C:311,0,7976:8899972	18	0	3	0
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R,	.	.	420	1090	12	0	0	12	0.00547445	.	.	3192352	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.991	D	0.934	D	.	.	.	.	1.525	L	4.6	T	-1.014	T	0.015	T	0.291	-0.237	2.857	1.16	0.926	-0.777	5.678	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	574.68	47	chr19	8899979	.	G	T	574.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.200e+00;DP=2070;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.21;MQRankSum=-1.427e+01;QD=0.79;ReadPosRankSum=0.704;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,20:217:99:0|1:8899972_T_C:247,0,8212:8899972	18	0	3	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E,	.	.	417	1065	39	1	0	41	0.0188853	.	.	3221801	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.982	D	0.455	P	.	.	.	.	0.85	L	4.58	T	-0.922	T	0.007	T	0.152	-0.449	1.920	0.009	-0.043	-3.145	3.969	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	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	0.1429	1154.03	47	chr19	8900001	.	C	T	1154.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.290e-01;DP=2853;ExcessHet=1.7912;FS=1.022;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=59.31;MQRankSum=-1.443e+01;QD=0.76;ReadPosRankSum=1.80;SOR=0.913	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,21:220:99:0|1:8900000_C_T:283,0,8272:8900000	15	0	6	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H,	.	.	419	985	117	1	0	119	0.0569651	.	.	3206446	MUC16-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.289	B	0.104	B	.	.	.	.	0.85	L	4.62	T	-0.937	T	0.005	T	0.187	-0.708	0.946	-2.32	-0.921	-3.230	2.997	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	2350.15	47	chr19	8900017	.	C	G	2350.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.351;DP=3884;ExcessHet=11.8493;FS=0.993;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=59.12;MQRankSum=-1.468e+01;QD=0.70;ReadPosRankSum=1.95;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,21:235:99:0|1:8900000_C_T:238,0,8876:8900000	8	0	13	0
chr19	8913794	8913794	-	TGGTATG	exonic	MUC16	.	frameshift insertion	MUC16:NM_024690:exon17:c.37062_37063insCATACCA:p.T12355Hfs*96,	.	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs1408023747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	106.94	72	chr19	8913794	.	T	TTGGTATG	106.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.507;DP=2065;ExcessHet=0.0000;FS=0.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.47;MQRankSum=-1.013e+01;QD=0.69;ReadPosRankSum=0.629;SOR=0.857	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,13:154:99:0|1:8913794_T_TTGGTATG:121,0,5851:8913794	20	0	1	0
chr19	8913797	8913803	ACACAGA	-	exonic	MUC16	.	frameshift deletion	MUC16:NM_024690:exon17:c.37054_37060del:p.S12352Pfs*89,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs1327054083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	82.94	72	chr19	8913796	.	GACACAGA	G	82.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.300e-02;DP=2071;ExcessHet=0.0000;FS=1.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.23;MQRankSum=-1.107e+01;QD=0.51;ReadPosRankSum=1.11;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,13:162:97:0|1:8913794_T_TTGGTATG:97,0,6187:8913794	20	0	1	0
chr19	8913808	8913808	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon17:c.A37049G:p.Q12350R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-0.49	N	4.58	T	-0.902	T	0.004	T	0.07	-0.396	2.144	-5.35	-2.051	-1.948	9.540	0.029	0.00242608576165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs759620819	4.789e-06	5.472e-06	4.084e-06	5.502e-06	2.236e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.397e-06	0	0	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.132	0.26519	T	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	0.33	0.03889	N	0.086	0.06322	-0.9020	0.47782	T	0.004	0.01226	T	8	0.039474815	0.02440	T	0.002426	0.04757	T	0.029	0.06676	0.199	0.11247	0.0138822411134	0.00435	0.12891028179309774	0.12816	.	.	0.163704261184	0.00015	T	.	.	.	-0.461877	0.00957	T	-0.818366	0.01486	T	0.101391582637809	0.12509	T	0.0669933	0.00488	T	.	.	.	.	.	.	.	.	-0.541	0.00609	T	.	.	0.059	0.00793	B	.	.	-0.294309	0.02643	0.335	0.15538801178461156	0.00384	0.00338	0.01756	N	AEFBI	0.021699	0.00995	N	-2.14677206213676	0.00101	0.004315622	-2.20892277407453	0.00107	0.004697573	0.00161392486598595	0.08707	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.68	-5.35	0.02488	-1.054000	0.03607	.	.	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.489:0.0:0.511	9.540	0.38411	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	130.98	72	chr19	8913808	.	T	C	130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.480e-01;DP=2233;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.47;MQRankSum=-7.708e+00;QD=0.81;ReadPosRankSum=0.334;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,14:161:99:0|1:8913794_T_TTGGTATG:145,0,6090:8913794	20	0	1	0
chr19	8913809	8913809	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon17:c.C37048T:p.Q12350X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	55.824	61	-4.17	-0.423	0.044	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343794696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.647	0.65844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	Low	9.825524	0.99351	43	0.91393941691125624	0.20660	0.01948	0.05923	N	AEFBI	0.019628	0.00699	N	-0.0950171539886091	0.37610	2.190638	-0.572942064464123	0.20199	1.087212	7.90230937884117E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.68	-4.17	0.03595	0.024000	0.13447	.	.	-0.392000	0.05338	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1432:0.1948:0.2692:0.3929	0.906	0.01203	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	127.98	72	chr19	8913809	.	G	A	127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.970e-01;DP=2246;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.61;MQRankSum=-1.075e+01;QD=0.79;ReadPosRankSum=0.376;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,14:162:99:0|1:8913794_T_TTGGTATG:142,0,6127:8913794	20	0	1	0
chr19	8952999	8952999	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C23771T:p.T7924M,	.	.	419	1095	7	1	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.542	P	.	.	.	.	1.59	L	1.56	T	-0.904	T	0.079	T	0.086	0.163	4.879	2.34	1.629	-0.157	8.242	0.059	0.00131915574947	0.0002	.	0.0004	0	0.0009	0	0.0002	0.0004	0	0.0002	0.000304	47	154602	rs201509856	0.0003	0.0003	0.0003	0.0003	0.0059	0.0003	0.0002	0.0043	0.0038	0.0002	0.0010	0	0	1.873e-05	0.0059	0.0002	0.0007	0.0001	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	4.813e-05	0	0.0005	0	0.0002	0	0.0034	0.0004	0.0005	0.0004	0.002	0.72154	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	-1.11	0.28703	N	0.083	0.05929	-0.9042	0.47538	T	0.079	0.31466	T	8	0.028915823	0.01021	T	0.001319	0.01860	T	0.059	0.16972	.	.	0.290590437066	0.28656	0.0859577918344541	0.08529	.	.	0.188898384571	0.00206	T	.	.	.	-0.587777	0.00173	T	-0.662629	0.08089	T	0.0287179128233308	0.01795	T	0.319468	0.06419	T	.	.	.	.	.	.	.	.	-5.587	0.42674	T	.	.	0.084	0.09772	B	.	.	0.878587	0.12517	9.047	0.38050217989944235	0.02543	0.01884	0.05793	N	AEFBI	0.015952	0.00330	N	-0.350549341603676	0.27251	1.493698	-0.569674404847815	0.20285	1.092233	9.75075109686685E-4	0.08079	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.34	2.34	0.28071	0.580000	0.23505	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	8.242	0.30827	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2424.98	106	chr19	8952999	.	G	A	2424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=2533;ExcessHet=0.0000;FS=3.239;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.074;SOR=0.501	GT:AD:DP:GQ:PL	0/1:107,94:201:99:2439,0,2578	20	0	1	0
chr19	9854801	9854801	G	C	exonic	OLFM2	.	nonsynonymous SNV	OLFM2:NM_001304348:exon5:c.C516G:p.D172E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.205	M	-2.4	D	0.529	D	0.766	D	0.191	3.487	17.84	3.42	1.086	0.954	10.135	0.597	0.0792427157215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999582	0.47691	D	2.47	0.71715	M	-2.4	0.88455	D	-2.05	0.47008	N	0.312	0.38438	0.529	0.90956	D	0.766	0.92023	D	9	0.6964848	0.72176	D	0.079243	0.73189	D	0.597	0.84019	0.571	0.69431	0.616309752723	0.61320	.	.	1.45215106663	0.86188	0.682164549828	0.64580	T	0.374173	0.82387	T	0.00502319	0.52346	T	-0.230561	0.51717	T	0.97174608707428	0.69433	D	0.971303	0.89644	D	0.22800027	0.45511	0.21998447	0.46757	0.22800027	0.45511	0.21998447	0.46756	-8.617	0.65202	D	.	.	0.696	0.81000	P	.;.;.	.;.;.	3.698712	0.52737	23.3	0.99704958505600771	0.80936	0.86476	0.45764	D	AEFDBI	0.465642	0.51363	N	0.404831549550597	0.61688	4.373243	0.331328797368957	0.57388	3.904456	0.053917881777599	0.14954	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	4.45	3.42	0.38259	0.721000	0.25580	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0978:0.0:0.9022:0.0	10.135	0.41876	878	0.29785	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	319.99	101	chr19	9854801	.	G	C	319.99	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.842e+00;DP=2362;ExcessHet=0.3300;FS=191.227;InbreedingCoeff=-0.1394;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=1.04;SOR=11.722	GT:AD:DP:GQ:PL	0/1:68,28:99:99:152,0,1326	16	0	3	2
chr19	10631646	10631646	G	A	exonic	SLC44A2	.	nonsynonymous SNV	SLC44A2:NM_001145056:exon8:c.G517A:p.A173T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.002	B	0.002	B	0.000	D	0.839	D	1.56	L	3.0	T	-1.052	T	0.028	T	0.272	1.217	9.939	4.73	2.480	6.595	16.687	0.142	0.00500901989889	.	.	8.271e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs760046078	6.843e-06	1.026e-05	5.447e-06	8.254e-06	5.797e-05	3.46e-06	2.52e-06	2.194e-05	1.43e-05	0	2.237e-05	0	2.519e-05	0	0	2.698e-06	0	5.797e-05	1.314e-05	1.313e-05	2.569e-05	0	6.543e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	6.543e-05	0	0	0	0	0	0	0	0.751	0.03576	T	0.177	0.56192	T	0.002	0.09854	B	0.002	0.06944	B	0.000031	0.55875	D	0.118870	0.839216	0.35039	D	2.135	0.59519	M	2.21	0.18414	T	-0.34	0.12661	N	0.549	0.57946	-1.0525	0.13709	T	0.028	0.12103	T	10	0.14656931	0.27786	T	0.005009	0.12660	T	0.142	0.37995	0.422	0.46529	0.351180957027	0.34734	0.8066983716275047	0.80624	0.31972383323	0.34172	0.469737440348	0.34644	T	0.00571	0.14410	T	-0.166154	0.25818	T	-0.476445	0.24826	T	0.407502174377441	0.29224	T	0.919208	0.70896	D	0.08889599	0.20753	0.12194454	0.29418	0.08889599	0.20753	0.12194454	0.29417	-7.708	0.60694	D	.	.	0.299	0.52921	B	.;.;.;.;.	.;.;.;.;.	4.372976	0.67337	25.1	0.84242597941807129	0.15178	0.98308	0.81482	D	AEFGBI	0.741705	0.68556	D	-0.163665312308865	0.34656	1.980691	-0.0202575475888222	0.38800	2.291238	0.999996955087461	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.73	4.73	0.59485	6.716000	0.74519	11.733000	0.95036	0.675000	0.71128	0.996000	0.39380	1.000000	0.68203	0.932000	0.46971	0.0:0.0:1.0:0.0	16.687	0.85169	814	0.42100	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2148.98	164	chr19	10631646	.	G	A	2148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=3479;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=0.073;SOR=0.795	GT:AD:DP:GQ:PL	0/1:120,86:206:99:2163,0,3030	20	0	1	0
chr19	11383211	11383211	C	T	exonic	EPOR	.	nonsynonymous SNV	EPOR:NM_000121:exon2:c.G137A:p.G46E,	.	.	418	1072	31	1	0	33	0.0151585	.	.	342728	Primary_familial_polycythemia_due_to_EPO_receptor_mutation|not_provided	MONDO:MONDO:0007572,MedGen:C4551637,OMIM:133100,Orphanet:90042|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.009	B	0.218	N	1.000	N	0.46	N	-1.53	D	-0.957	T	0.125	T	0.051	-1.477	0.018	-2.21	-0.144	0.112	0.198	0.138	.	0.0048	0.00419329	0.0056	0.0029	0.0029	0	0.0009	0.0065	0.0046	0.0107	0.0053233	823	154602	rs45516306	0.0071	0.0071	0.0070	0.0073	0.0114	0.0070	0.0070	0.0108	0.0106	0.0018	0.0037	0.0068	0	0.0009	0.0054	0.0077	0.0065	0.0114	0.0046	0.0046	0.0047	0.0045	0.0122	0.0043	0.0042	0.0097	0.0088	0.0016	0	0.0049	0.0052	0.0002	0.0008	0	0.0068	0.0043	0.0122	1.0	0.00964	T	0.548	0.10678	T	0.004	0.12183	B	0.009	0.14300	B	0.217787	0.16210	N	0.588615	1	0.08975	N	0.685	0.16464	N	-1.53	0.81559	D	-0.91	0.24460	N	0.084	0.06059	-0.9572	0.39699	T	0.125	0.42966	T	10	0.0049070716	0.00105	T	.	.	.	0.138	0.37187	.	.	0.564541561611	0.56117	0.6439902255400745	0.64334	1.05196235552	0.76184	0.47251406312	0.35026	T	0.216065	0.57812	T	-0.52474	0.00413	T	-0.518568	0.20440	T	0.00488103608185247	0.00052	T	0.614539	0.23442	T	0.12722376	0.29776	0.09064179	0.21267	0.12652256	0.29632	0.08392942	0.19272	-2.562	0.06220	T	.	.	0.084	0.10691	B	.;.	.;.	0.683896	0.10526	7.236	0.71319046514445861	0.09589	0.08374	0.14311	N	ALL	0.087113	0.17664	N	-1.27220848452605	0.04014	0.1803893	-1.27620343391686	0.04754	0.2249996	0.999934561351446	0.46732	0.652421	0.48094	0	0.606814	0.50340	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.93	-2.21	0.06581	-0.065000	0.11575	.	.	0.469000	0.21855	0.157000	0.23755	0.000000	0.08366	0.529000	0.29684	0.3403:0.2465:0.1679:0.2454	0.198	0.00132	856	0.34373	Growth hormone/erythropoietin receptor, ligand binding;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	621.98	33	chr19	11383211	.	C	T	621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.972;DP=715;ExcessHet=0.0000;FS=1.309;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=-1.837e+00;SOR=0.382	GT:AD:DP:GQ:PL	0/1:16,24:40:99:636,0,363	20	0	1	0
chr19	11405406	11405406	G	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.C1017G:p.N339K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.235	H	-0.44	T	0.121	D	0.587	D	0.498	3.271	16.98	0.744	0.212	0.433	8.708	0.423	0.196437592837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999782	0.49076	D	.	.	.	-0.44	0.69777	T	-5.56	0.86296	D	0.955	0.96416	0.121	0.84545	D	0.587	0.85193	D	10	0.9687301	0.96415	D	0.196438	0.86479	D	0.633	0.85924	0.856	0.95547	0.645372302287	0.64243	0.7254216986829906	0.72486	0.56572969357	0.52901	0.781132102013	0.79098	T	0.497296	0.81923	T	0.0551969	0.59008	T	-0.15849	0.58488	T	0.997808158397675	0.92464	D	0.953905	0.82456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.96466	P	.;.	.;.	3.588069	0.50618	23.0	0.99736088181629057	0.83119	0.90066	0.50957	D	AEFDBI	0.565574	0.57190	D	0.48326814403872	0.66114	4.908338	0.284030260583653	0.54608	3.625159	1.08984404763921E-4	0.05123	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	0.744	0.17503	0.403000	0.20706	.	.	0.676000	0.76740	0.998000	0.41325	0.995000	0.32472	0.700000	0.34141	0.3282:0.0:0.6718:0.0	8.708	0.33527	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	209.78	55	chr19	11405406	.	G	C	209.78	.	AC=6;AF=0.200;AN=30;BaseQRankSum=-1.596e+00;DP=1235;ExcessHet=1.7912;FS=66.458;InbreedingCoeff=-0.2677;MLEAC=6;MLEAF=0.200;MQ=59.99;MQRankSum=0.00;QD=0.65;ReadPosRankSum=0.788;SOR=8.235	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,4:43:34:0|1:11405406_G_C:34,0,1517:11405406	9	0	6	6
chr19	11405407	11405407	T	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.A1016G:p.N339S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	3.195	M	-0.42	T	0.276	D	0.556	D	0.448	3.897	19.81	5.26	1.991	7.387	14.148	0.767	0.11765181501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.842e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.46910	D	0.045	0.49942	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	-0.42	0.69536	T	-4.51	0.78222	D	0.926	0.93018	0.276	0.87164	D	0.556	0.83798	D	10	0.95189494	0.94530	D	0.117652	0.79749	D	0.767	0.92129	0.82	0.93328	0.643127189037	0.64018	0.5853249714877617	0.58462	0.473787794825	0.46581	0.688574552536	0.65501	T	0.388278	0.74899	T	0.0804978	0.62098	D	-0.122147	0.61625	T	0.997053503990173	0.90665	D	0.950605	0.81072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.78104	P	.;.	.;.	4.976953	0.82408	27.8	0.998584207163148	0.93729	0.98131	0.79864	D	AEFDBI	0.948277	0.95973	D	0.784910675588042	0.85151	8.491899	0.694214424071738	0.81937	7.645418	0.999407243211158	0.39524	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	7.669000	0.82880	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.686000	0.33718	0.0:0.0:0.0:1.0	14.148	0.64894	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1389	146.75	66	chr19	11405407	.	T	C	146.75	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.522e+00;DP=1164;ExcessHet=1.1607;FS=60.944;InbreedingCoeff=-0.1794;MLEAC=5;MLEAF=0.139;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=0.701;SOR=6.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,4:43:34:0|1:11405406_G_C:34,0,1517:11405406	13	0	5	3
chr19	11405408	11405408	T	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.A1015G:p.N339D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.685	H	-0.18	T	0.343	D	0.548	D	0.463	4.157	21.5	4.94	1.854	7.387	13.594	0.690	0.168257505331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.008	0.67890	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	.	.	.	-0.18	0.65747	T	-4.65	0.79399	D	0.96	0.96984	0.343	0.88221	D	0.548	0.83393	D	10	0.9538684	0.94736	D	0.168258	0.84641	D	0.769	0.92212	0.814	0.92925	0.613675013168	0.61056	0.6608127146749349	0.66018	0.561778919436	0.52677	0.76652097702	0.76902	T	0.327982	0.69844	T	0.0801504	0.62059	D	-0.122646	0.61584	T	0.998850345611572	0.95376	D	0.950205	0.80929	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.973	0.89808	P	.;.	.;.	5.124242	0.85718	28.7	0.99721545031508141	0.82054	0.98097	0.79572	D	AEFDBI	0.950693	0.96457	D	0.813542536876161	0.86945	9.051328	0.690744031826607	0.81677	7.582605	0.998160086688684	0.36515	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	7.669000	0.82880	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.658000	0.32913	0.0:0.0:0.0:1.0	13.594	0.61444	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	113.21	62	chr19	11405408	.	T	C	113.21	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.258e+00;DP=1105;ExcessHet=0.3300;FS=33.946;InbreedingCoeff=-0.0748;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=0.638;SOR=5.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,4:43:34:0|1:11405406_G_C:34,0,1517:11405406	18	0	3	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	2/2:0,3,116:119:99:5052,4964,5139,350,234,0	2	0	2	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	57518.43	140	chr19	12430730	.	A	C,*	57518.43	.	AC=18,3;AF=0.429,0.071;AN=42;BaseQRankSum=-2.194e+00;DP=3284;ExcessHet=2.0051;FS=0.000;InbreedingCoeff=-0.0476;MLEAC=18,3;MLEAF=0.429,0.071;MQ=58.31;MQRankSum=-5.036e+00;QD=22.67;ReadPosRankSum=-5.040e-01;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,121,0:121:99:1|1:12430718_C_A:5440,364,0,5440,364,5440:12430718	5	4	10	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	0/6:12,0,0,0,0,0,13:25:99:.:.:510,546,1027,546,1027,1027,546,1027,1027,1027,546,1027,1027,1027,1027,546,1027,1027,1027,1027,1027,0,481,481,481,481,481,441	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	0/6:12,0,0,0,0,0,13:25:99:.:.:510,546,1027,546,1027,1027,546,1027,1027,1027,546,1027,1027,1027,1027,546,1027,1027,1027,1027,1027,0,481,481,481,481,481,441	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	0/6:12,0,0,0,0,0,13:25:99:.:.:510,546,1027,546,1027,1027,546,1027,1027,1027,546,1027,1027,1027,1027,546,1027,1027,1027,1027,1027,0,481,481,481,481,481,441	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	0/6:12,0,0,0,0,0,13:25:99:.:.:510,546,1027,546,1027,1027,546,1027,1027,1027,546,1027,1027,1027,1027,546,1027,1027,1027,1027,1027,0,481,481,481,481,481,441	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	0/6:12,0,0,0,0,0,13:25:99:.:.:510,546,1027,546,1027,1027,546,1027,1027,1027,546,1027,1027,1027,1027,546,1027,1027,1027,1027,1027,0,481,481,481,481,481,441	2	3	6	0
chr19	16736665	16736665	T	C	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001007525:exon4:c.T113C:p.I38T,	.	.	423	1071	27	1	0	29	0.0133579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.001	B	0.433	N	1.000	N	-1.52	N	2.1	T	-0.982	T	0.009	T	0.024	-1.308	0.036	-2.14	0.097	-0.047	5.798	0.020	.	.	0.00658946	0.0144	0.0017	0	0	0.0188	0.0108	0.0109	0.0172	0.0030013	464	154602	rs117353506	0.0103	0.0098	0.0101	0.0106	0.0166	0.0102	0.0101	0.0158	0.0155	0.0016	0.0033	0.0147	0.0008	0.0178	0.0104	0.0104	0.0090	0.0166	0.0078	0.0078	0.0077	0.0080	0.0155	0.0075	0.0073	0.0127	0.0117	0.0017	0	0.0039	0.0118	0	0.0175	0.0068	0.0110	0.0028	0.0155	0.579	0.06779	T	0.616	0.07543	T	0.0	0.02946	B	0.001	0.04355	B	0.433353	0.04717	N	1.357460	1	0.08975	N	-1.445	0.00556	N	2.1	0.19990	T	1.27	0.00985	N	0.031	0.01658	-0.9820	0.34538	T	0.009	0.03448	T	10	0.0031747222	0.00053	T	.	.	.	0.020	0.03691	.	.	.	.	0.11415311732290649	0.11343	0.182636527527	0.20529	0.348507583141	0.17702	T	4.5E-4	0.00158	T	-0.776052	0.00012	T	-0.873896	0.00706	T	3.4540116757853e-05	0.00000	T	0.212579	0.02598	T	0.02336708	0.01070	0.0443684	0.05732	0.02336708	0.01070	0.0443684	0.05732	-1.137	0.01165	T	.	.	0.046	0.00080	B	.;.;.;.	.;.;.;.	-0.012211	0.04199	1.022	0.37945950114817406	0.02530	0.00191	0.01107	N	AEFGBI	0.014931	0.00259	N	-1.47867275774287	0.02001	0.08791167	-1.408386698553	0.03168	0.1472257	0.00454810159913068	0.10609	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.6	-2.14	0.06725	-0.053000	0.11802	-0.037000	0.12718	-1.433000	0.01113	0.000000	0.06391	0.000000	0.08366	0.231000	0.22761	0.0:0.3142:0.4857:0.2001	5.798	0.17660	824	0.40336	.;.;.;.	.	.	.	.	rs117353506	Likely benign	0	0	0	0	0	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	2373.98	34	chr19	16736665	.	T	C	2373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.675e+00;DP=953;ExcessHet=0.0000;FS=3.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=1.10;SOR=0.933	GT:AD:DP:GQ:PL	0/1:124,111:235:99:2388,0,3026	20	0	1	0
chr19	17211769	17211769	C	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon39:c.C6053T:p.S2018L	.	.	367	1108	46	1	0	48	0.0212014	.	.	704845	MYO9B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.13	T	0.271	B	0.034	B	0.412	N	1.000	N	0.69	N	-1.96	D	-0.771	T	0.282	T	0.041	1.778	11.90	0.090	-0.107	2.935	5.497	0.190	.	0.0050	0.00319489	0.0060	0.0005	0.0026	0	0.0085	0.0070	0.0070	0.0097	0.0055627	860	154602	rs199695802	0.0056	0.0056	0.0054	0.0059	0.0210	0.0055	0.0055	0.0180	0.0168	0.0008	0.0030	0.0151	2.519e-05	0.0091	0.0210	0.0051	0.0073	0.0104	0.0044	0.0044	0.0042	0.0047	0.0104	0.0042	0.0041	0.0081	0.0073	0.0011	0	0.0043	0.0141	0	0.0082	0.0102	0.0053	0.0057	0.0104	0.076	0.34269	T	0.025	0.56192	D	.	.	.	.	.	.	0.412285	0.04598	N	1.514930	1	0.08975	N	1.78	0.46185	L	-1.96	0.85091	D	-2.12	0.48184	N	0.183	0.22998	-0.7710	0.56803	T	0.282	0.65399	T	10	0.0070744455	0.00161	T	.	.	.	0.190	0.46781	.	.	0.479185464739	0.47547	0.39954179086188857	0.39869	0.291571434391	0.31565	0.432612478733	0.29566	T	0.022428	0.18153	T	-0.478053	0.00759	T	-0.451505	0.27530	T	0.0266004429926373	0.01488	T	0.727427	0.39899	T	.	.	.	.	.	.	.	.	-3.639	0.18422	T	.	.	0.062	0.08224	B	.;.;.;.;.;.	.;.;.;.;.;.	1.720961	0.21908	15.40	0.98264130253596449	0.39694	0.46924	0.27868	N	AEFBI	0.280645	0.39441	N	-0.973295880863492	0.09177	0.433247	-0.968848972364462	0.10489	0.5286096	0.0025240548006917	0.09503	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.93	0.090	0.13772	2.996000	0.49137	-0.581000	0.08376	-0.781000	0.03322	0.027000	0.20232	0.000000	0.08366	0.856000	0.40543	0.0:0.6136:0.1429:0.2435	5.497	0.16099	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	2336.68	33	chr19	17211769	.	C	T	2336.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.790;DP=870;ExcessHet=0.3300;FS=1.673;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=-1.148e+00;SOR=0.826	GT:AD:DP:GQ:PL	0/1:35,22:57:99:500,0,828	18	0	3	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	0/2:26,0,4,0:30:16:.:.:16,128,1194,0,855,769,128,1194,855,1194	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	0/2:8,4,13:25:99:.:.:398,232,674,0,129,145	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	1/2:0,18,8:26:99:.:.:1640,241,131,716,0,611	0	10	3	0
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	0/1:21,12,0:33:99:360,0,594,423,630,1053	16	0	2	0
chr19	31279167	31279167	G	A	exonic	TSHZ3	.	nonsynonymous SNV	TSHZ3:NM_020856:exon2:c.C626T:p.T209M,	.	.	.	.	.	.	.	.	.	.	.	3487002	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.56	M	2.04	T	-0.792	T	0.170	T	0.801	3.996	20.5	5.42	2.509	9.471	19.215	0.452	0.0498371643909	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1210168815	1.917e-05	1.984e-05	2.315e-05	1.514e-05	3.479e-05	1.329e-05	1.144e-05	1.461e-05	1.228e-05	2.989e-05	0	0	0	0	0	2.16e-05	0	3.479e-05	6.572e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.055638	1	0.81001	D	2.175	0.60977	M	2.04	0.20808	T	-3.2	0.64710	D	0.861	0.85766	-0.7918	0.55624	T	0.170	0.51133	T	10	0.82841927	0.82012	D	0.049837	0.63984	D	0.452	0.75211	.	.	0.501308276186	0.49768	0.6108650900503092	0.61018	1.0736861455	0.76906	0.876175522804	0.93438	D	0.714105	0.91868	D	0.080176	0.62061	D	-0.0589633	0.66405	T	0.970334053039551	0.68911	D	0.997	0.98879	D	0.44393432	0.63655	0.45563993	0.68354	0.44393432	0.63656	0.45563993	0.68355	-11.826	0.83993	D	.	.	0.814	0.77921	P	.	.	4.849901	0.79257	27.1	0.99881475483367532	0.95733	0.98847	0.87641	D	AEFDBI	0.910360	0.86818	D	0.930927006735151	0.93192	11.87881	0.893710830782997	0.95292	13.48612	0.999999999527102	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.42	5.42	0.78666	9.597000	0.97445	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.215	0.93760	896	0.25515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2911.98	43	chr19	31279167	.	G	A	2911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=995;ExcessHet=0.0000;FS=5.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.748;SOR=1.071	GT:AD:DP:GQ:PL	0/1:110,112:222:99:2926,0,2581	20	0	1	0
chr19	32999594	32999594	C	T	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon10:c.G1217A:p.R406Q,	.	.	393	1026	102	1	0	104	0.0482375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.046	B	0.011	B	0.546	N	1.000	N	1.385	L	1.92	T	-1.048	T	0.066	T	0.045	3.628	18.46	-6.97	-1.575	-0.317	3.396	0.081	0.0142889467842	.	.	7.456e-05	0.0002	8.699e-05	0.0002	0	6.023e-05	0	0	3.84e-05	1	26028	rs201438314	6.167e-06	7.524e-06	4.091e-06	8.265e-06	0.0002	2.9e-06	2.1e-06	8.222e-05	5.8e-05	0	2.239e-05	0	0.0002	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.13131	T	0.262	0.22895	T	0.046	0.21875	B	0.011	0.15521	B	0.546131	0.05342	N	1.251570	1	0.08975	N	0.72	0.18721	N	1.92	0.23082	T	-1.58	0.38151	N	0.079	0.05414	-1.0477	0.15045	T	0.066	0.27364	T	10	0.048371255	0.04278	T	0.014289	0.34307	T	0.081	0.23632	.	.	0.27132560031	0.26736	0.06164481015293202	0.06104	0.382972438731	0.39630	0.201459959149	0.00501	T	0.059124	0.31030	T	-0.36165	0.04038	T	-0.757261	0.03211	T	0.0508323867332556	0.05645	T	0.756024	0.37907	T	0.041213904	0.06027	0.04124066	0.04644	0.041213904	0.06027	0.04124066	0.04643	-5.092	0.37823	T	.	.	0.066	0.02257	B	.	.	1.142576	0.15300	11.74	0.98445629126539858	0.41564	0.00752	0.03125	N	AEFDBI	0.050936	0.08950	N	-1.11366119687686	0.06399	0.2944523	-1.21024942297574	0.05744	0.2745707	0.999756840206791	0.42595	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.72	-6.97	0.01459	-0.603000	0.05770	-3.390000	0.02823	0.537000	0.25018	0.000000	0.06391	0.000000	0.08366	0.629000	0.32131	0.1977:0.0875:0.0954:0.6194	3.396	0.06880	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	100.78	62	chr19	32999594	.	C	T	100.78	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.89;DP=2162;ExcessHet=0.3300;FS=7.171;InbreedingCoeff=-0.0697;MLEAC=2;MLEAF=0.048;MQ=53.65;MQRankSum=-4.247e+00;QD=0.32;ReadPosRankSum=-2.745e+00;SOR=1.468	GT:AD:DP:GQ:PL	0/1:79,10:89:69:69,0,2333	18	0	3	0
chr19	33215893	33215893	C	T	exonic	SLC7A10	.	nonsynonymous SNV	SLC7A10:NM_019849:exon2:c.G232A:p.V78I,	.	.	419	1101	2	0	0	2	0.000907441	.	.	2333088	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.71	T	0.008	B	0.03	B	0.067	N	1.000	D	0.625	N	-2.68	D	-0.664	T	0.440	T	0.136	1.627	11.40	1.5	0.466	0.583	5.939	0.171	0.0202656663744	7.7e-05	0.000199681	7.299e-05	0.0001	0	0.0003	0	6.595e-05	0	0	5.17e-05	8	154602	rs370643237	4.045e-05	4.036e-05	3.545e-05	4.55e-05	0.0002	3.185e-05	2.917e-05	3.462e-05	3.124e-05	0	4.499e-05	0	2.522e-05	1.893e-05	0.0002	4.501e-05	4.976e-05	1.17e-05	8.534e-05	8.53e-05	0.0001	6.713e-05	0.0004	4.953e-05	3.959e-05	6.842e-05	2.863e-05	4.811e-05	0	0.0002	0	0.0004	0	0	8.82e-05	0	0	0.363	0.11807	T	0.515	0.10643	T	0.008	0.14655	B	0.03	0.21741	B	0.067094	0.21765	N	0.493565	0.568163	0.32271	D	0.795	0.19620	N	-2.68	0.90391	D	-0.63	0.18459	N	0.223	0.25006	-0.6636	0.62117	T	0.440	0.77827	T	10	0.12036559	0.22796	T	0.020266	0.42829	T	0.171	0.43483	.	.	0.621853638575	0.61878	0.332912045256687	0.33204	0.332056083419	0.35265	0.390078693628	0.23680	T	0.285982	0.65877	T	-0.197338	0.21190	T	-0.336596	0.40729	T	0.0237407413877736	0.01113	T	0.852415	0.53747	D	0.059362926	0.12056	0.06493065	0.13085	0.059362926	0.12055	0.06493065	0.13084	-6.099	0.47100	T	.	.	0.071	0.03925	B	.	.	2.721479	0.35600	19.94	0.97893996669518679	0.36690	0.70374	0.34564	D	AEFDGBI	0.251389	0.37126	N	-0.564818403238559	0.20021	1.052387	-0.407857279743887	0.24766	1.358077	0.195680510041145	0.18055	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.79	1.5	0.22029	0.603000	0.23848	1.833000	0.29130	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.0:0.5084:0.0:0.4916	5.939	0.18419	550	0.72197	.	.	.	.	.	.	Uncertain significance	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	598.98	34	chr19	33215893	.	C	T	598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.232;DP=780;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.49;ReadPosRankSum=1.28;SOR=0.660	GT:AD:DP:GQ:PL	0/1:51,29:80:99:613,0,1193	20	0	1	0
chr19	34958015	34958015	C	T	exonic	ZNF792	.	nonsynonymous SNV	ZNF792:NM_175872:exon4:c.G1840A:p.A614T,	.	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.005	B	0.002	B	.	.	1.000	N	0	N	3.34	T	-0.936	T	0.008	T	0.16	2.553	14.50	0.355	0.157	-0.137	1.006	0.033	.	0.0002	0.0197684	0.0113	0.0002	0.0010	0.0100	0	0.0003	0.0085	0.0785	0.0095212	1472	154602	rs200278064	0.0047	0.0047	0.0029	0.0065	0.0703	0.0046	0.0046	0.0688	0.0682	0.0003	0.0005	0.0013	0.0070	0.0003	0.0035	0.0001	0.0060	0.0703	0.0028	0.0028	0.0015	0.0041	0.0728	0.0026	0.0025	0.0665	0.0640	0.0002	0	0.0001	0.0026	0.0071	0	0	0.0001	0.0019	0.0728	0.084	0.32929	T	0.372	0.19362	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.34	0.06063	T	-0.2	0.10136	N	0.14	0.13911	-0.9359	0.43257	T	0.008	0.02926	T	9	0.0024052262	0.00036	T	.	.	.	0.033	0.08068	.	.	.	.	0.13585855362880117	0.13509	0.247095792662	0.27244	0.224681705236	0.01598	T	0.002028	0.10204	T	-0.646089	0.00076	T	-0.648189	0.09081	T	0.0184147399786136	0.00558	T	0.390461	0.09684	T	0.036278095	0.04431	0.05228279	0.08582	0.036278095	0.04430	0.05228279	0.08581	-2.71	0.07387	T	.	.	0.069	0.03093	B	.;.	.;.	1.257329	0.16549	12.61	0.99372635559404843	0.61498	0.00058	0.00432	N	AEFDBHCI	0.031105	0.03259	N	-1.10928015456417	0.06477	0.2982812	-1.15851108829091	0.06616	0.3190628	0.317559909742204	0.19351	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	2.64	0.355	0.15305	0.283000	0.18605	-2.383000	0.03823	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2321:0.3876:0.2278:0.1524	1.006	0.01394	307	0.87649	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1292.98	37	chr19	34958015	.	C	T	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.760e-01;DP=1202;ExcessHet=0.0000;FS=2.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-7.890e-01;SOR=0.601	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1307,0,1201	20	0	1	0
chr19	34958041	34958041	C	G	exonic	ZNF792	.	nonsynonymous SNV	ZNF792:NM_175872:exon4:c.G1814C:p.S605T,	.	.	426	1077	19	0	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	.	.	1.000	N	0	N	3.37	T	-0.933	T	0.006	T	0.126	-1.987	0.007	-3.6	-0.750	.	1.076	0.012	.	7.7e-05	0.0197684	0.0112	0.0002	0.0009	0.0099	0	4.833e-05	0.0085	0.0772	0.0093919	1452	154602	rs201800628	0.0046	0.0046	0.0028	0.0064	0.0702	0.0045	0.0045	0.0687	0.0681	0.0003	0.0005	0	0.0070	0	0.0028	3.239e-05	0.0057	0.0702	0.0027	0.0027	0.0014	0.0040	0.0732	0.0025	0.0024	0.0669	0.0644	0.0002	0	0.0001	0	0.0071	0	0	5.879e-05	0.0019	0.0732	0.855	0.02705	T	0.479	0.12562	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.37	0.05847	T	-0.01	0.07155	N	0.142	0.14196	-0.9333	0.43650	T	0.006	0.02055	T	9	0.0021786094	0.00031	T	.	.	.	0.012	0.01476	.	.	.	.	0.0653250227160099	0.06471	0.16430499449	0.18538	0.245909079909	0.03349	T	4.45E-4	0.05823	T	-0.734228	0.00022	T	-0.774795	0.02614	T	0.000397459311521812	0.00003	T	0.160684	0.01448	T	0.023038864	0.01011	0.03799009	0.03572	0.023038864	0.01010	0.03799009	0.03571	-3.949	0.23038	T	.	.	0.068	0.03625	B	.;.	.;.	0.131981	0.05276	1.772	0.60119208613842268	0.06386	0.00090	0.00598	N	AEFDBHCI	0.038494	0.05455	N	-1.80736661476347	0.00527	0.02270495	-1.85435263990769	0.00600	0.02666944	0.654660405635976	0.22203	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	2.27	-3.6	0.04277	-0.933000	0.04067	-5.939000	0.01546	-0.995000	0.01833	0.001000	0.13787	0.000000	0.08366	0.231000	0.22761	0.1689:0.4061:0.1664:0.2586	1.076	0.01530	307	0.87649	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1339.98	37	chr19	34958041	.	C	G	1339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.259e+00;DP=1196;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-2.625e+00;SOR=0.558	GT:AD:DP:GQ:PL	0/1:43,50:93:99:1354,0,1107	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	0/1:163,134:297:99:3330,0,3900	19	0	2	0
chr19	35615272	35615272	G	A	exonic	HAUS5	.	nonsynonymous SNV	HAUS5:NM_015302:exon6:c.G371A:p.R124H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.013	B	0.004	B	0.136	N	1.000	N	1.355	L	1.47	T	-1.033	T	0.055	T	0.108	2.260	13.51	1.31	0.099	1.209	8.811	0.025	0.00551338936702	.	.	5.214e-05	0	0	0.0002	0	6.27e-05	0	0	3.88e-05	6	154602	rs766423063	2.258e-05	2.257e-05	2.859e-05	1.65e-05	7.557e-05	1.61e-05	1.417e-05	2.004e-05	1.15e-05	2.987e-05	0	0	7.557e-05	3.753e-05	0	2.068e-05	4.968e-05	1.16e-05	3.285e-05	3.283e-05	3.854e-05	2.689e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0.0002	0.617	0.05357	T	0.121	0.35840	T	0.013	0.16609	B	0.004	0.10090	B	0.136159	0.18456	N	0.593826	1	0.08975	N	1.6	0.40776	L	1.47	0.31987	T	0.48	0.03041	N	0.262	0.29659	-1.0327	0.19586	T	0.055	0.23072	T	10	0.03557688	0.01812	T	0.005513	0.14197	T	0.025	0.05312	0.341	0.33302	0.221734844693	0.21761	0.4733317307521494	0.47252	0.264401177313	0.28988	0.27648037672	0.07007	T	0.00468	0.04092	T	-0.416049	0.01813	T	-0.6097	0.12010	T	0.0655163031390108	0.08007	T	0.761624	0.38671	T	0.019150298	0.00441	0.024246376	0.00441	0.019150298	0.00441	0.024246376	0.00441	-4.219	0.27026	T	.	.	0.075	0.05711	B	.	.	2.176805	0.27743	17.57	0.96535929960015787	0.30168	0.30683	0.24145	N	AEFBI	0.090739	0.18385	N	-0.545435280842682	0.20627	1.088763	-0.478862891432013	0.22737	1.236436	0.00309560428675037	0.09922	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.84	1.31	0.20837	1.178000	0.31590	0.188000	0.15711	0.671000	0.69459	0.783000	0.29509	0.000000	0.08366	0.953000	0.50222	0.2705:0.0:0.7295:0.0	8.811	0.34124	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	1	0	0	0	0.02381	1344.98	39	chr19	35615272	.	G	A	1344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=939;ExcessHet=0.0000;FS=4.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=-1.022e+00;SOR=1.054	GT:AD:DP:GQ:PL	0/1:77,57:134:99:1359,0,1843	20	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	.	.	1.000	N	0.55	N	-0.28	T	-0.989	T	0.121	T	0.114	1.268	10.14	-4.52	-1.174	-2.695	8.886	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	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	0.3438	3239.79	87	chr19	37887093	.	A	G	3239.79	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-3.813e+00;DP=2213;ExcessHet=7.7275;FS=216.184;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.38;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,30:111:99:0|1:37887093_A_G:467,0,2935:37887093	5	0	11	5
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|1:82,31:113:99:0|1:37887093_A_G:488,0,2939:37887093	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|1:80,31:111:99:0|1:37887093_A_G:494,0,2871:37887093	1	0	15	5
chr19	38320264	38320264	C	T	exonic	KCNK6	.	nonsynonymous SNV	KCNK6:NM_004823:exon1:c.C314T:p.T105I,	.	.	421	1088	13	0	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.978	D	0.000	D	1.000	D	3.195	M	1.23	T	-0.403	T	0.263	T	0.66	4.141	21.4	3.48	2.393	4.393	12.440	0.338	.	.	0.00379393	0.0031	0.0001	0.0003	0	0	0.0003	0.0036	0.0202	0.0024967	386	154602	rs201520164	0.0014	0.0014	0.0008	0.0019	0.0197	0.0013	0.0013	0.0189	0.0186	6.024e-05	0.0007	0.0003	2.532e-05	0	0.0035	0.0001	0.0018	0.0197	0.0008	0.0008	0.0005	0.0010	0.0163	0.0006	0.0006	0.0134	0.0124	0	0	0.0015	0.0006	0	0	0.0102	0.0001	0.0005	0.0163	0.002	0.72154	D	0.002	0.79402	D	0.996	0.68779	D	0.978	0.74104	D	0.000001	0.84330	D	0.054079	0.999999	0.58761	D	2.645	0.77386	M	1.23	0.36872	T	-4.47	0.77881	D	0.82	0.81559	-0.4025	0.71948	T	0.263	0.63405	T	10	0.011172533	0.00245	T	.	.	.	0.338	0.66010	.	.	0.67526397899	0.67251	0.9613861708462629	0.96124	0.45283389639	0.44990	0.762634932995	0.76322	T	0.801009	0.94926	D	-0.281556	0.10503	T	-0.162275	0.58147	T	0.310088872909546	0.25418	T	0.874313	0.58483	D	0.88425577	0.90020	0.7882379	0.87537	0.88425577	0.90021	0.7882379	0.87537	-12.015	0.84925	D	.	.	0.969	0.89197	P	.	.	5.528987	0.91856	32	0.99838099389374102	0.91886	0.88725	0.48791	D	ALL	0.467504	0.51470	N	0.756002455077173	0.83297	7.980286	0.657682372197412	0.79184	7.02907	0.999999928797158	0.74766	0.789315	0.99827	0	0.748881	0.99253	0	0.768056	0.98339	0	0.618803	0.45993	0	.	.	4.57	3.48	0.38946	4.937000	0.63213	5.966000	0.51911	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8162:0.1838:0.0	12.440	0.54956	607	0.67291	Potassium channel 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	777.98	33	chr19	38320264	.	C	T	777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.518e+00;DP=740;ExcessHet=0.0000;FS=10.086;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=1.34;SOR=0.145	GT:AD:DP:GQ:PL	0/1:20,37:57:99:792,0,499	20	0	1	0
chr19	38362267	38362267	G	C	exonic	CATSPERG	.	nonsynonymous SNV	CATSPERG:NM_001330496:exon17:c.G2032C:p.D678H	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.971	D	0.875	P	0.220	N	0.998	N	1.59	L	1.13	T	-1.020	T	0.127	T	0.463	3.197	16.70	-0.999	0.361	-0.171	2.625	0.062	0.022606607569	.	.	2.812e-05	0	0	0	0	5.151e-05	0	0	1.94e-05	3	154602	rs778867060	1.506e-05	1.505e-05	1.362e-05	1.651e-05	0.0002	9.86e-06	8.42e-06	9.32e-06	7.62e-06	0	2.238e-05	0	0	0	0.0002	1.529e-05	4.977e-05	0	6.574e-06	6.567e-06	1.285e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.16	0.24090	T	0.181	0.29346	T	0.971	0.57185	D	0.875	0.62107	P	0.219940	0.16162	N	0.550566	1	0.22348	N	1.87	0.49600	L	1.13	0.38556	T	-1.5	0.36586	N	0.615	0.63120	-1.0204	0.23584	T	0.127	0.43421	T	10	0.23514801	0.40570	T	0.022607	0.45515	T	0.062	0.17934	0.341	0.33302	0.213573922156	0.20996	0.5404564624201001	0.53970	2.02551538596	0.94040	0.420376002789	0.27888	T	0.02877	0.20767	T	-0.261193	0.12760	T	-0.453485	0.27313	T	0.0607620105147362	0.07288	T	0.70043	0.31009	T	0.055918846	0.10932	0.04745525	0.06840	0.055918846	0.10931	0.04745525	0.06840	-3.694	0.19230	T	.	.	0.374	0.58066	A	.;.	.;.	2.002627	0.25446	16.76	0.98059599497142336	0.37936	0.06500	0.12510	N	ALL	0.092834	0.18790	N	-0.605178544570238	0.18788	0.9782331	-0.764732146120991	0.15361	0.8074878	0.999997904221317	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.519653	0.09787	0	0.618803	0.45993	0	.	.	4.61	-0.999	0.09686	-0.289000	0.08401	0.694000	0.20791	0.590000	0.31872	0.000000	0.06391	0.151000	0.23179	0.003000	0.05239	0.0968:0.1552:0.4306:0.3174	2.625	0.04628	610	0.67008	.;.	.	.	.	.	.	Uncertain significance	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	769.98	42	chr19	38362267	.	G	C	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.386;DP=780;ExcessHet=0.0000;FS=0.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.740;SOR=0.471	GT:AD:DP:GQ:PL	0/1:31,31:62:99:784,0,749	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|1:0,43,0:43:99:1|1:40667975_C_T:1866,129,0,1866,129,1866:40667975	4	8	8	0
chr19	41414125	41414125	C	T	exonic	BCKDHA	.	nonsynonymous SNV	BCKDHA:NM_000709:exon4:c.C452T:p.T151M	Maple syrup urine disease, type Ia, Autosomal recessive	YES	1	1439	78	4	0	86	0.0290148	.	.	99268	Maple_syrup_urine_disease|not_provided|not_specified|Maple_syrup_urine_disease_type_1A	MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.969	D	0.806	P	0.000	D	0.983	D	1.79	L	-3.88	D	0.800	D	0.837	D	0.305	4.042	20.7	4.66	2.578	1.755	16.831	0.170	.	0.0075	0.00419329	0.0108	0.0018	0.0035	0.0001	0.0296	0.0145	0.0113	0.0050	0.0100775	1558	154602	rs34442879	0.0090	0.0090	0.0090	0.0089	0.0468	0.0088	0.0088	0.0422	0.0404	0.0019	0.0044	0.0054	2.519e-05	0.0251	0.0468	0.0090	0.0093	0.0054	0.0079	0.0079	0.0071	0.0087	0.0103	0.0075	0.0073	0.0097	0.0094	0.0015	0	0.0051	0.0040	0.0004	0.0261	0.0612	0.0103	0.0123	0.0041	0.02	0.56456	D	0.044	0.49663	D	0.963	0.55692	D	0.622	0.51475	P	0.000089	0.51296	D	0.167160	0.927282	0.39958	D	1.845	0.48678	L	-3.88	0.95953	D	-1.21	0.31375	N	0.185	0.34012	0.800	0.94407	D	0.837	0.94546	D	10	0.017781347	0.00382	T	.	.	.	0.434	0.73951	.	.	.	.	0.7002436206164835	0.69965	1.23621605308	0.85030	0.532821595669	0.43432	T	0.534257	0.83937	D	-0.208204	0.19633	T	-0.0608155	0.66276	T	0.0228603141182863	0.01008	T	0.928207	0.73493	D	0.15023611	0.34212	0.08159312	0.18555	0.15023611	0.34212	0.08159312	0.18554	-5.983	0.49852	T	0.289193797445513	0.38554	0.089	0.31532	B	.;.;.;.	.;.;.;.	3.389103	0.46917	22.4	0.99873433679432777	0.95076	0.68246	0.33730	D	AEFBI	0.639883	0.61778	D	0.332885079307658	0.57843	3.953436	0.299358951351295	0.55501	3.713204	0.987086427242392	0.31181	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	1.309000	0.33145	3.999000	0.41057	0.599000	0.40250	0.226000	0.24601	0.994000	0.32194	0.989000	0.64315	0.0:1.0:0.0:0.0	16.831	0.85808	856	0.34373	.;Dehydrogenase, E1 component;Dehydrogenase, E1 component;.	PCAT19|PCAT19|PCAT19|PCAT19|PCAT19	Adipose_Subcutaneous|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|LTBP4|LTBP4	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	1231.11	33	chr19	41414125	.	C	T	1231.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.705;DP=784;ExcessHet=0.1072;FS=1.824;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=0.730;SOR=0.948	GT:AD:DP:GQ:PL	0/1:18,39:57:99:953,0,342	19	0	2	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	0.000	D	1.000	D	3.53	H	-4.0	D	1.095	D	0.951	D	0.859	4.691	26.0	3.99	2.214	7.600	15.399	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1076.49	79	chr19	42095399	.	C	G	1076.49	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-3.789e+00;DP=1906;ExcessHet=4.7172;FS=144.686;InbreedingCoeff=-0.3152;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.33;ReadPosRankSum=0.594;SOR=10.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,16:93:96:.:.:96,0,1542	11	0	9	1
chr19	44892888	44892888	G	A	exonic	TOMM40	.	nonsynonymous SNV	TOMM40:NM_001128917:exon3:c.G394A:p.G132R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.965	D	0.000	D	1.000	D	3.125	M	0.84	T	-0.216	T	0.341	T	0.873	4.548	24.6	4.06	1.120	7.312	13.258	0.615	0.142130106639	.	.	8.315e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs750526666	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.014	0.64786	D	0.999	0.77913	D	0.951	0.71173	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.275	0.90144	M	0.84	0.47477	T	-5.16	0.83422	D	0.846	0.84194	-0.2161	0.77255	T	0.341	0.70648	T	10	0.922724	0.91624	D	0.14213	0.82452	D	0.615	0.84986	0.792	0.91365	0.583166538999	0.57988	.	.	0.208935064865	0.23359	0.765007138252	0.76677	T	0.338988	0.70818	T	0.121078	0.66480	D	0.105272	0.77258	D	0.980931347966373	0.73629	D	0.90231	0.67171	D	0.93511105	0.94751	0.8334214	0.90408	0.93511105	0.94751	0.8334214	0.90409	-14.593	0.94824	D	.	.	0.991	0.95886	P	.;.;.;.;.	.;.;.;.;.	5.820117	0.93695	33	0.99921330901934668	0.98787	0.95035	0.63201	D	AEFBHC	0.928417	0.91259	D	0.740202579240378	0.82265	7.720245	0.654042618046364	0.78912	6.972725	0.999999993550998	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.12	4.06	0.46572	6.157000	0.71647	.	.	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.1612:0.8388:0.0	13.258	0.59519	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	0	0	0	0	0.02381	1407.98	96	chr19	44892888	.	G	A	1407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.12;DP=1065;ExcessHet=0.0000;FS=2.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-3.390e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1422,0,1509	20	0	1	0
chr19	47802409	47802409	A	C	exonic	TPRX1	.	nonsynonymous SNV	TPRX1:NM_198479:exon2:c.T602G:p.V201G,	.	.	.	.	.	.	.	.	.	.	.	2735427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.0	B	.	.	1.000	N	0	N	1.0	T	-1.032	T	0.038	T	0.132	-1.135	0.113	-0.802	-2.054	-4.286	.	0.016	0.00423765404556	.	.	5.469e-05	0	0	0	0	0.0001	0	0	7.68e-05	2	26028	rs200748871	4.503e-05	8.003e-05	4.636e-05	4.367e-05	0.0002	3.464e-05	3.126e-05	0.0001	7.873e-05	4.244e-05	3.507e-05	5.33e-05	0.0002	9.673e-05	0	2.575e-05	8.983e-05	0.0002	0.0004	0.0009	0.0003	0.0004	0.0016	0.0003	0.0002	0.0005	0.0003	0.0006	0	0.0003	0	0.0016	0	0	0.0002	0	0.0005	0.571	0.09430	T	0.388	0.22494	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	1.0	0.41392	T	0.96	0.04091	N	0.034	0.07949	-1.0325	0.19650	T	0.038	0.16246	T	8	0.017377675	0.00371	T	0.004238	0.10247	T	0.016	0.02506	.	.	0.0401082797425	0.02173	0.11663670961732966	0.11591	0.0772875809066	0.08693	0.31706649065	0.12976	T	0.009287	0.08464	T	-0.55859	0.00259	T	-0.732736	0.04205	T	0.00423360126837781	0.00045	T	0.0366963	0.00254	T	0.048329886	0.08406	0.12003961	0.28972	0.048329886	0.08406	0.12003961	0.28971	2.341	0.00038	T	.	.	0.055	0.00390	B	.;.;.	.;.;.	-0.794307	0.01118	0.051	0.20255595652771158	0.00720	0.00032	0.00291	N	AEFDBI	0.017397	0.00453	N	-2.10881371858474	0.00122	0.005240635	-2.18713165531064	0.00120	0.005257149	0.0455254057432558	0.14655	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	0.401	-0.802	0.10340	-2.510000	0.01035	-4.269000	0.02247	-3.175000	0.00114	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	912	0.21483	.;.;.	.	.	.	.	.	Uncertain significance	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	897.98	43	chr19	47802409	.	A	C	897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=865;ExcessHet=0.0000;FS=2.499;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.11;ReadPosRankSum=0.462;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,25:47:99:0|1:47802394_G_A:912,0,783:47802394	20	0	1	0
chr19	48121298	48121298	C	T	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon22:c.G2053A:p.V685M	DNA ligase I deficiency (3)	.	402	1073	44	3	0	50	0.0227687	.	.	705135	not_provided|LIG1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.22	T	0.999	D	0.914	D	0.000	D	1.000	D	1.125	L	0.51	T	-0.844	T	0.162	T	0.609	2.724	15.07	4.25	1.364	5.309	13.463	0.267	.	0.0045	0.00519169	0.0072	0.0013	0.0075	0.0004	0.0027	0.0099	0.0081	0.0049	0.0067658	1046	154602	rs146309259	0.0075	0.0075	0.0076	0.0074	0.0282	0.0074	0.0074	0.0247	0.0233	0.0010	0.0069	0.0111	0.0003	0.0031	0.0282	0.0082	0.0086	0.0043	0.0063	0.0063	0.0065	0.0060	0.0091	0.0059	0.0058	0.0085	0.0082	0.0018	0.0724	0.0059	0.0112	0.0006	0.0018	0.0374	0.0091	0.0066	0.0044	0.052	0.39097	T	0.044	0.76473	D	0.254	0.77913	B	0.034	0.64984	B	0.000049	0.53742	D	0.121396	0.999997	0.81001	D	0.21	0.09513	N	0.48	0.57729	T	-2.72	0.57920	D	0.544	0.57092	-0.8443	0.52359	T	0.162	0.49748	T	10	0.009888917	0.00222	T	.	.	.	0.267	0.58126	.	.	0.486707162081	0.48303	0.6877962717568229	0.68719	0.52801659779	0.50392	0.702495098114	0.67505	T	0.564074	0.85457	D	-0.329051	0.06184	T	-0.232462	0.51533	T	0.0459140205099629	0.04768	T	0.989301	0.96474	D	0.16692582	0.37058	0.09929493	0.23703	0.16692582	0.37057	0.09929493	0.23703	-10.761	0.85868	D	.	.	0.132	0.34754	B	.;.;.;.	.;.;.;.	3.443177	0.47909	22.5	0.99730661908994123	0.82761	0.93628	0.58739	D	AEFDBI	0.624604	0.60811	D	-0.16406644344385	0.34637	1.979539	-0.107215287758839	0.35099	2.026604	0.99999999158571	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.635259	0.50027	0	.	.	5.29	4.25	0.49658	5.365000	0.65866	1.025000	0.23435	-0.218000	0.08083	1.000000	0.71638	0.467000	0.25033	0.218000	0.22407	0.1579:0.8421:0.0:0.0	13.463	0.60692	846	0.36215	DNA ligase, ATP-dependent, central;DNA ligase, ATP-dependent, central;.;.	.	.	.	.	rs146309259	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	618.98	35	chr19	48121298	.	C	T	618.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.000e-01;DP=636;ExcessHet=0.0000;FS=1.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.73;ReadPosRankSum=0.049;SOR=0.380	GT:AD:DP:GQ:PL	0/1:12,25:37:99:633,0,255	20	0	1	0
chr19	49154456	49154456	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATGATG:p.D261_V262insDD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,28,0,0:47:99:.:.:1022,0,537,1142,591,1927,1142,591,1927,1927	5	4	8	0
chr19	49154456	49154456	-	CAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATG:p.D261_V262insD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,28,0,0:47:99:.:.:1022,0,537,1142,591,1927,1142,591,1927,1927	5	4	8	0
chr19	49651512	49651512	G	A	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G1123A:p.G375S,	.	.	417	1104	1	0	0	1	0.000452694	.	.	3316975	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.011	B	0.015	B	0.233	N	1.000	N	0.805	L	1.12	T	-1.050	T	0.060	T	0.182	1.929	12.41	1.95	0.869	2.048	5.473	0.008	0.229150613755	.	0.000199681	0.0004	0	0	0	0	0.0004	0	0.0008	0.0001552	24	154602	rs572089161	0.0002	0.0002	0.0001	0.0002	0.0013	0.0002	0.0002	0.0006	0.0006	0	0.0002	0.0010	0	0	0.0013	0.0001	0.0003	0.0008	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	9.732e-05	0.0002	0.0001	4.828e-05	0	6.548e-05	0.0009	0	0	0	0.0002	0	0.0006	0.005	0.63226	D	0.433	0.13595	T	0.011	0.15914	B	0.015	0.17295	B	0.232996	0.15878	N	0.526148	1	0.08975	N	0.805	0.20218	L	1.12	0.38718	T	-0.65	0.18877	N	0.231	0.25989	-1.0496	0.14509	T	0.060	0.24981	T	9	0.02151668	0.00516	T	0.229151	0.88171	D	0.008	0.00669	.	.	0.0675242888579	0.06100	0.28996675754906764	0.28909	0.628977153861	0.56955	0.876125812531	0.93432	D	0.025432	0.19020	T	-0.450458	0.01122	T	-0.497816	0.22574	T	0.0425427037674954	0.04154	T	0.511749	0.16382	T	0.051017817	0.09307	0.05866094	0.10878	0.051017817	0.09307	0.05866094	0.10877	-3.92	0.22602	T	.	.	0.082	0.08851	B	.	.	2.271346	0.29029	17.99	0.87114068048166138	0.16998	0.39815	0.26297	N	AEFDBI	0.101416	0.20370	N	-0.69676448409675	0.16114	0.8181229	-0.670036593030106	0.17712	0.9429877	0.550870969481843	0.21333	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.47	1.95	0.25130	2.452000	0.44619	2.721000	0.34312	0.590000	0.31872	0.991000	0.37257	0.998000	0.33993	0.235000	0.22869	0.12:0.0:0.6916:0.1884	5.473	0.15975	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	463.98	38	chr19	49651512	.	G	A	463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.070e-01;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=-1.918e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/1:15,20:35:99:478,0,383	20	0	1	0
chr19	51746559	51746559	T	C	exonic	FPR1	.	nonsynonymous SNV	FPR1:NM_002029:exon2:c.A436G:p.I146V	.	.	.	.	.	.	.	.	.	.	.	3171625	Gingival_disorder|not_specified	MONDO:MONDO:0002021,MedGen:C0017563|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.053	B	0.085	B	0.048	N	0.995	N	0.765	N	-0.84	T	-0.953	T	0.172	T	0.187	-0.718	0.914	2.63	1.596	-0.024	4.243	0.173	0.0106106838152	.	.	5.767e-05	0	0	0.0008	0	0	0	0	4.53e-05	7	154602	rs756459168	6.841e-06	6.84e-06	6.806e-06	6.875e-06	0.0003	3.46e-06	2.52e-06	0.0001	0.0001	0	0	0	0.0003	0	0	0	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0004	2.19e-06	8.2e-07	6.813e-05	2.852e-05	0	0	0	0	0.0004	0	0	0	0	0	0.422	0.09776	T	1.0	0.01155	T	0.053	0.22573	B	0.085	0.29395	B	0.048202	0.23273	N	0.400535	0.994779	0.23445	N	1.475	0.37068	L	-0.84	0.74265	T	0.02	0.06739	N	0.018	0.00252	-0.9529	0.40468	T	0.172	0.51484	T	10	0.16599911	0.31012	T	0.010611	0.27345	T	0.173	0.43840	0.774	0.90002	0.587297536726	0.58404	0.38412873956227883	0.38327	0.273506257707	0.29848	0.317508012056	0.13043	T	0.050815	0.28703	T	-0.412801	0.01904	T	-0.44752	0.27971	T	0.0439304533764529	0.04408	T	0.647135	0.25820	T	0.056459147	0.11112	0.051312342	0.08232	0.056459147	0.11112	0.051312342	0.08232	-3.208	0.12579	T	.	.	0.108	0.22391	B	.;.;.	.;.;.	0.435442	0.08059	4.780	0.61810473001100164	0.06803	0.05502	0.11389	N	AEFBI	0.092246	0.18677	N	-0.82161736313395	0.12758	0.6239719	-0.765901362769023	0.15333	0.8058361	0.901431601168956	0.26101	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.66	2.63	0.30420	0.154000	0.16160	.	.	0.645000	0.52629	0.000000	0.06391	0.001000	0.17328	0.179000	0.21265	0.0:0.2545:0.0:0.7455	4.243	0.10112	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	82.39	108	chr19	51746559	.	T	C	82.39	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.607e+00;DP=2864;ExcessHet=0.1072;FS=174.148;InbreedingCoeff=-0.0575;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.22;ReadPosRankSum=1.54;SOR=9.524	GT:AD:DP:GQ:PL	0/1:117,39:156:46:46,0,2685	19	0	2	0
chr19	52034081	52034081	C	T	exonic	ZNF432	.	nonsynonymous SNV	ZNF432:NM_001322284:exon5:c.G1598A:p.R533Q	.	.	402	1114	6	0	0	6	0.00268577	.	.	705216	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.988	D	0.569	P	.	.	1.000	N	2.345	M	1.84	T	-1.070	T	0.049	T	0.158	3.405	17.50	2.81	1.577	-1.922	9.779	0.118	.	0.0089	0.00579073	0.0074	0.0026	0.0054	0.0001	0.0178	0.0100	0.0154	0.0007	0.0077101	1192	154602	rs117633649	0.0090	0.0090	0.0090	0.0089	0.0113	0.0088	0.0088	0.0096	0.0096	0.0016	0.0083	0.0013	5.038e-05	0.0201	0.0113	0.0098	0.0090	0.0008	0.0079	0.0079	0.0073	0.0086	0.0160	0.0075	0.0074	0.0144	0.0137	0.0019	0.0110	0.0160	0.0006	0.0002	0.0201	0.0068	0.0092	0.0099	0.0010	0.013	0.53900	D	0.027	0.55341	D	0.988	0.62325	D	0.569	0.49832	P	.	.	.	.	0.999734	0.20548	N	1.165	0.29723	L	1.84	0.24656	T	-2.89	0.60665	D	0.185	0.26837	-1.0703	0.09348	T	0.049	0.20750	T	9	0.0055719614	0.00123	T	.	.	.	0.118	0.32913	.	.	0.298056030225	0.29408	0.06553176725640754	0.06492	0.313201615579	0.33613	0.413404345512	0.26928	T	0.102706	0.41069	T	-0.566776	0.00231	T	-0.576523	0.14858	T	0.0355470686176569	0.02901	T	0.275372	0.04709	T	0.2838641	0.51416	0.24361204	0.49809	0.2838641	0.51416	0.24361204	0.49808	-6.198	0.47907	T	.	.	0.403	0.59854	A	.;.	.;.	3.605418	0.50945	23.0	0.99951997338411658	0.99951	0.00131	0.00809	N	AEFDGBHCI	0.143086	0.26570	N	0.0608843360165002	0.44645	2.734748	-0.0710903196948234	0.36591	2.131401	0.30805057368628	0.19258	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.81	2.81	0.31971	-1.130000	0.03353	.	.	0.463000	0.21641	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.0:0.7867:0.2133:0.0	9.779	0.39806	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1136.98	33	chr19	52034081	.	C	T	1136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.647;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=-5.270e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1151,0,1217	20	0	1	0
chr19	52322814	52322814	C	T	exonic	ZNF480	.	nonsynonymous SNV	ZNF480:NM_001297624:exon4:c.C1435T:p.R479C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.789	P	.	.	1.000	N	1.555	L	2.14	T	-1.061	T	0.068	T	0.21	1.654	11.49	1.18	0.261	-5.595	6.046	0.055	0.00373538716359	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997457483	3.299e-05	3.283e-05	3.279e-05	3.319e-05	7.576e-05	2.555e-05	2.259e-05	2.839e-05	2.517e-05	2.997e-05	4.507e-05	0	7.576e-05	0	0	3.792e-05	0	0	6.573e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.106	0.29688	T	0.072	0.48594	T	0.999	0.77913	D	0.789	0.57669	P	.	.	.	.	1	0.08975	N	2.25	0.63811	M	2.14	0.19450	T	-2.3	0.51157	N	0.064	0.07949	-1.0614	0.11410	T	0.068	0.27879	T	9	0.15304208	0.28897	T	0.003735	0.08651	T	0.055	0.15663	0.62	0.75461	0.203808441222	0.19973	0.1312030350919284	0.13045	0.375685216108	0.39028	0.229436218739	0.01927	T	0.03811	0.24721	T	-0.28755	0.09883	T	-0.650822	0.08897	T	0.214945079449722	0.21208	T	0.288571	0.05217	T	0.08718202	0.20291	0.05358357	0.09054	0.08718202	0.20290	0.05358357	0.09054	-5.534	0.42856	T	.	.	0.538	0.66286	A	.;.;.	.;.;.	1.904491	0.24190	16.30	0.99211356394692396	0.55594	0.00019	0.00214	N	AEFGBCI	0.029688	0.02848	N	-0.93873745593251	0.09947	0.4730843	-1.14324779735726	0.06889	0.3332095	0.00133316644986829	0.08454	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	2.25	1.18	0.20058	-2.225000	0.01295	.	.	-0.506000	0.05009	0.000000	0.06391	0.001000	0.17328	0.002000	0.04165	0.0:0.7119:0.0:0.2881	6.046	0.18986	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;.	.	.	.	.	.	Uncertain significance	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	1716.98	45	chr19	52322814	.	C	T	1716.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=919;ExcessHet=0.0000;FS=0.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.444;SOR=0.589	GT:AD:DP:GQ:PL	0/1:69,67:136:99:1731,0,1567	20	0	1	0
chr19	53267316	53267316	G	C	exonic	VN1R4	.	nonsynonymous SNV	VN1R4:NM_173857:exon1:c.C350G:p.A117G,	.	.	429	996	97	0	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.27	B	0.303	B	0.544	N	1.000	N	2.14	M	1.22	T	-0.992	T	0.002	T	0.033	-0.469	1.836	-0.254	0.038	0.522	5.387	0.048	.	0.0745	.	0.0723	0.1661	0.0578	0.1678	0.0343	0.0512	0.0526	0.0748	0.0574507	8882	154602	rs74359534	0.0001	0.0012	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	2.243e-05	3.834e-05	0.0003	0.0005	0	8.66e-05	0.0002	0.0002	0.0005	0.0022	0.0004	0.0006	0.0016	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0002	0.0003	0.0016	0.0002	0	0.0002	0.0005	0.0013	0.022	0.48642	D	0.031	0.53788	D	.	.	.	.	.	.	0.544248	0.05332	N	1.356640	1	0.08975	N	.	.	.	1.22	0.37052	T	-2.67	0.57110	D	0.067	0.03956	-0.9924	0.31985	T	0.002	0.00526	T	10	0.0025487542	0.00039	T	.	.	.	0.048	0.13305	.	.	.	.	0.05313922711391094	0.05255	0.384759530948	0.39774	0.249634504318	0.03729	T	.	.	.	-0.723375	0.00026	T	-0.704733	0.05570	T	0.0342202795027098	0.02675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	1.325632	0.17306	13.08	0.87963315563257027	0.17613	0.00907	0.03546	N	AEFGBI	0.029181	0.02709	N	-0.884326474785515	0.11215	0.5400046	-1.06817902281054	0.08332	0.4092313	4.69142761911595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.28	-0.254	0.12350	0.747000	0.25956	.	.	-0.917000	0.02218	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4302:0.3517:0.2182	5.387	0.15525	994	0.00715	.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.09524	1222.92	63	chr19	53267316	.	G	C	1222.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.947e+00;DP=1756;ExcessHet=0.6776;FS=0.701;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=51.46;MQRankSum=-9.148e+00;QD=1.35;ReadPosRankSum=1.32;SOR=0.598	GT:AD:DP:GQ:PL	0/1:168,65:233:99:894,0,4678	17	0	4	0
chr19	54633108	54633108	T	C	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.T1051C:p.W351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.005	B	0.000	N	1.000	N	0.64	N	4.11	T	-0.937	T	0.006	T	0.074	-0.437	1.968	-4.16	-1.178	-4.299	2.666	0.016	0.000983764574232	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs765206177	1.262e-05	1.321e-05	1.117e-05	1.408e-05	0.0002	7.89e-06	6.51e-06	0.0001	8.812e-05	3.147e-05	0	0	0	0	0	0	3.399e-05	0.0002	2.098e-05	2.088e-05	2.735e-05	1.431e-05	0.0007	5.58e-06	2.55e-06	0.0002	9.61e-05	0	0	0	0	0	0	0	0	0	0.0007	0.426	0.09746	T	0.473	0.12281	T	0.0	0.02946	B	0.002	0.06944	B	0.000057	0.00387	N	14.826600	1	0.08975	N	.	.	.	4.11	0.02916	T	-1.47	0.45042	N	0.058	0.03175	-0.9373	0.43041	T	0.006	0.02168	T	10	0.032902986	0.01452	T	9.84E-4	0.01026	T	0.016	0.02506	0.42	0.46200	0.355658859761	0.35178	0.06504777047916012	0.06443	0.0951957454739	0.10748	0.260372936726	0.04935	T	0.003953	0.03423	T	-0.602758	0.00140	T	-0.799049	0.01926	T	0.0297089204965355	0.01945	T	0.0123321	0.00111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48827	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.464652	0.01982	0.173	0.27383360219759167	0.01357	0.00158	0.00946	N	AEFDBHCI	0.036166	0.04774	N	-2.07763132330582	0.00143	0.006134361	-2.16231796484525	0.00136	0.005972342	0.998419139002024	0.36924	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	-4.16	0.03606	-3.674000	0.00445	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3566:0.2413:0.0:0.4021	2.666	0.04739	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	75915.23	337	chr19	54633108	.	T	G,C	75915.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=1.38;DP=7609;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.07;MQRankSum=-1.416e+01;QD=10.13;ReadPosRankSum=3.92;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,115,0:362:99:0|1:54633108_T_G:4085,0,9971,4829,10318,15146:54633108	1	0	19	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T	.	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	2.195	M	7.25	T	-0.797	T	0.003	T	0.159	-2.076	0.006	-0.836	-3.588	-0.374	0.314	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	11817.48	33	chr19	54739533	.	C	A	11817.48	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.378e+00;DP=7438;ExcessHet=20.9642;FS=1.551;InbreedingCoeff=-0.6399;MLEAC=16;MLEAF=0.400;MQ=55.59;MQRankSum=1.01;QD=1.92;ReadPosRankSum=1.26;SOR=0.542	GT:AD:DP:GQ:PL	0/1:243,44:287:99:469,0,6751	4	0	16	1
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	0/1:355,58:413:99:387,0,10053	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	0/1:492,62:554:99:1066,0,13583	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	0/1:512,57:569:99:.:.:832,0,21133	6	2	12	1
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	10320.24	37	chr19	54760643	.	A	G	10320.24	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.066e+00;DP=4116;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4489;MLEAC=13;MLEAF=0.310;MQ=53.53;MQRankSum=-6.940e+00;QD=3.09;ReadPosRankSum=-1.857e+00;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,38:304:99:0|1:54760643_A_G:755,0,10872:54760643	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|1:274,40:314:99:0|1:54760643_A_G:814,0,11085:54760643	8	0	13	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	14816.48	37	chr19	54760665	.	T	C	14816.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.128e+00;DP=4120;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=54.82;MQRankSum=-8.959e+00;QD=3.99;ReadPosRankSum=1.59;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,40:295:99:0|1:54760665_T_C:912,0,10376:54760665	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|1:263,40:303:99:0|1:54760665_T_C:888,0,10923:54760665	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|1:245,40:285:99:0|1:54760665_T_C:942,0,10106:54760665	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|1:241,40:281:99:0|1:54760665_T_C:954,0,9918:54760665	7	0	14	0
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H	.	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.444	B	0.198	B	.	.	1.000	N	1.695	L	2.03	T	-1.006	T	0.041	T	0.396	0.186	5.000	-1.93	-0.374	-0.063	2.604	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	14619.01	48	chr19	54773464	.	G	C	14619.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=4.28;DP=7976;ExcessHet=4.7172;FS=6.777;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.69;MQRankSum=-1.747e+01;QD=2.88;ReadPosRankSum=-1.077e+00;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:571,71:642:99:0|1:54773456_T_C:1263,0,23232:54773456	12	0	9	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G	.	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.1	B	0.33	B	.	.	1.000	N	2.97	M	2.06	T	-0.864	T	0.092	T	0.345	0.514	6.788	0.116	0.106	0.120	3.815	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	25978.01	48	chr19	54773510	.	C	G	25978.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.190e+00;DP=8922;ExcessHet=4.7172;FS=3.446;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.57;MQRankSum=-2.189e+01;QD=4.42;ReadPosRankSum=1.88;SOR=1.040	GT:AD:DP:GQ:PL	0/1:613,112:725:99:2479,0,16969	12	0	9	0
chr19	54804874	54804874	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A158C:p.Y53S	.	.	418	512	448	92	52	684	0.381643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.009	B	0.008	B	.	.	1.000	N	-1.815	N	2.81	T	-0.959	T	0.005	T	0.163	-2.574	0.003	-2.83	-0.824	-0.505	4.673	0.064	0.00123731148339	.	.	.	.	.	.	.	.	.	.	.	.	.	rs618835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.03314	T	0.009	0.15093	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-2.005	0.00192	N	2.81	0.10975	T	-0.12	0.17003	N	0.094	0.07398	-0.9592	0.39330	T	0.005	0.01688	T	9	0.038850784	0.02333	T	0.001237	0.01658	T	0.064	0.18567	.	.	0.0934897674506	0.08844	0.30959537037651635	0.30872	2.03392677507	0.94150	.	.	.	.	.	.	-0.349958	0.04730	T	-0.740467	0.03871	T	0.0372104795728204	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	-4.582	0.31945	T	.	.	0.096	0.15385	B	.;.;.;.	.;.;.;.	-1.038539	0.00718	0.021	0.36897408776256096	0.02400	0.00044	0.00357	N	AEFDBI	0.024914	0.01621	N	-2.04652454016145	0.00168	0.00718835	-2.03550390589525	0.00257	0.01134907	6.47260531587824E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.100000	0.03450	.	.	-3.205000	0.00110	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2532:0.5344:0.2124:0.0	4.673	0.12084	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	33079.42	37	chr19	54804874	.	A	G,C	33079.42	.	AC=12,3;AF=0.286,0.071;AN=42;BaseQRankSum=1.71;DP=3078;ExcessHet=3.1640;FS=0.523;InbreedingCoeff=-0.1340;MLEAC=12,3;MLEAF=0.286,0.071;MQ=59.39;MQRankSum=-3.020e+00;QD=12.12;ReadPosRankSum=0.071;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,123,7:226:99:.:.:2967,0,2384,3280,2697,8974	8	1	9	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|1:264,21:285:87:0|1:54805033_C_T:87,0,10926:54805033	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	0/1:233,29:262:99:.:.:479,0,6538	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|1:250,19:269:45:0|1:54805957_A_T:45,0,10440:54805957	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|1:249,19:268:48:0|1:54805957_A_T:48,0,10398:54805957	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|1:256,22:278:99:0|1:54805957_A_T:153,0,10672:54805957	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|1:271,28:299:99:0|1:54805957_A_T:337,0,11196:54805957	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|1:338,45:383:99:0|1:54806034_C_A:860,0,14038:54806034	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|1:340,45:385:99:0|1:54806034_C_A:854,0,14122:54806034	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|1:342,42:384:99:0|1:54806034_C_A:734,0,14234:54806034	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|1:348,41:389:99:0|1:54806034_C_A:674,0,14489:54806034	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|1:348,42:390:99:0|1:54806034_C_A:716,0,14486:54806034	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|1:352,39:391:99:0|1:54806034_C_A:578,0,14663:54806034	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|1:334,36:370:99:0|1:54806034_C_A:506,0,13916:54806034	6	0	15	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|1:299,39:338:99:0|1:54808838_C_T:738,0,12417:54808838	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|1:328,47:375:99:0|1:54808838_C_T:986,0,13540:54808838	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|1:324,48:372:99:0|1:54808838_C_T:1040,0,13369:54808838	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	0/1:317,56:373:99:1401,0,8719	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	0/2:211,83,79:373:99:.:.:2437,976,6362,0,3845,9979	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|1:294,41:335:99:0|1:54855608_TCTC_T:837,0,12211:54855608	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|1:300,39:339:99:0|1:54855608_TCTC_T:735,0,12401:54855608	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|1:158,42:200:99:0|1:54865770_G_A:1288,0,6508:54865770	7	0	14	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I	.	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.259	B	0.269	B	.	.	1.000	N	0.7	N	7.31	T	-0.975	T	0.001	T	0.028	-1.590	0.014	-1.58	-0.698	-0.374	3.986	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.35	30212.51	90	chr19	54865825	.	G	A	30212.51	.	AC=14;AF=0.350;AN=40;BaseQRankSum=0.417;DP=3951;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=58.36;MQRankSum=-1.018e+01;QD=8.39;ReadPosRankSum=2.06;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,44:209:99:0|1:54865770_G_A:1351,0,6796:54865770	6	0	14	1
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A	.	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.988	D	0.985	D	0.029	N	1.000	N	0.125	N	7.27	T	-0.917	T	0.002	T	0.051	-1.319	0.034	-1.58	-1.598	-0.458	5.878	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31525.16	90	chr19	54865847	.	T	C	31525.16	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.74;DP=3983;ExcessHet=14.4320;FS=0.597;InbreedingCoeff=-0.5108;MLEAC=14;MLEAF=0.333;MQ=58.27;MQRankSum=-1.006e+01;QD=8.70;ReadPosRankSum=0.977;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,42:208:99:0|1:54865770_G_A:1264,0,6844:54865770	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|1:167,42:209:99:0|1:54865770_G_A:1261,0,6886:54865770	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|1:161,40:201:99:0|1:54865770_G_A:1195,0,6640:54865770	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|1:159,42:201:99:0|1:54865770_G_A:1285,0,6550:54865770	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|1:155,38:193:99:0|1:54865770_G_A:1129,0,6394:54865770	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|1:151,36:187:99:0|1:54865770_G_A:1037,0,6232:54865770	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|1:141,35:176:99:0|1:54865770_G_A:1025,0,5815:54865770	7	0	13	1
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|2:0,38,37:75:99:1|0:55358511_GGCTCCTTCATCTCGCCCCATGGCT_G:3103,1530,1415,1575,0,1492:55358511	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|2:0,38,40:78:99:1|0:55358511_GGCTCCTTCATCTCGCCCCATGGCT_G:3202,1636,1543,1574,0,1461:55358511	0	18	2	0
chr19	56191902	56191902	G	A	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon3:c.C536T:p.A179V	.	.	427	1081	13	1	0	15	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.997	D	0.985	D	.	.	1.000	N	1.85	L	3.4	T	-1.037	T	0.031	T	0.05	-0.016	3.932	-2.78	-0.534	-1.021	2.803	0.032	0.000443102438536	0.0012	0.000399361	0.0010	0	0.0003	0	0	0.0012	0.0011	0.0018	0.0008732	135	154602	rs199497935	0.0011	0.0011	0.0009	0.0012	0.0090	0.0010	0.0010	0.0071	0.0064	2.987e-05	0.0005	0.0010	0	0.0001	0.0090	0.0010	0.0014	0.0023	0.0008	0.0008	0.0009	0.0006	0.0019	0.0007	0.0006	0.0010	0.0008	0.0003	0	0.0008	0.0017	0	0.0002	0	0.0010	0.0024	0.0019	0.196	0.20683	T	0.269	0.22426	T	0.997	0.70673	D	0.985	0.76457	D	.	.	.	.	1	0.08975	N	1.68	0.43186	L	3.4	0.05642	T	-0.74	0.20791	N	0.03	0.00717	-1.0366	0.18357	T	0.031	0.13461	T	9	0.006159246	0.00139	T	4.43E-4	0.00099	T	0.032	0.07718	.	.	0.143124449307	0.13826	0.07072266230011033	0.07009	0.0983498862426	0.11110	0.299490571022	0.10324	T	0.004394	0.03798	T	-0.727601	0.00025	T	-0.816971	0.01514	T	0.041492736840577	0.03961	T	0.720728	0.33361	T	0.029086264	0.02347	0.04209941	0.04935	0.029086264	0.02346	0.04209941	0.04935	-3.655	0.18656	T	.	.	0.181	0.39442	B	.;.	.;.	-0.032296	0.04066	0.945	0.61490145670609297	0.06722	0.00126	0.00785	N	AEFBI	0.023150	0.01251	N	-0.592595103882097	0.19168	1.001098	-0.92303017783393	0.11551	0.5891608	4.4305189627458E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	1.9	-2.78	0.05512	-0.944000	0.04022	.	.	0.342000	0.19800	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4016:0.2459:0.3525:0.0	2.803	0.05087	922	0.19044	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1658.98	35	chr19	56191902	.	G	A	1658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.536e+00;DP=930;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=-1.685e+00;SOR=0.861	GT:AD:DP:GQ:PL	0/1:89,69:158:99:1673,0,2431	20	0	1	0
chr19	57474334	57474334	C	A	exonic	ZNF772	.	nonsynonymous SNV	ZNF772:NM_001330613:exon3:c.G74T:p.G25V	.	.	428	1064	29	1	0	31	0.0143585	.	.	2815433	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.015	B	0.006	B	.	.	1.000	N	0.935	L	3.41	T	-0.925	T	0.007	T	0.082	-0.651	1.137	-7.18	-0.931	-0.238	0.653	0.014	.	0.0065	0.00179712	0.0052	0.0012	0.0042	0	0.0005	0.0080	0.0121	0.0016	0.0051552	797	154602	rs149559142	0.0056	0.0056	0.0056	0.0057	0.0479	0.0055	0.0055	0.0432	0.0414	0.0016	0.0052	0.0325	0	0.0002	0.0479	0.0056	0.0078	0.0018	0.0049	0.0049	0.0051	0.0047	0.0066	0.0046	0.0045	0.0061	0.0059	0.0013	0	0.0061	0.0314	0	0.0004	0.0442	0.0066	0.0090	0.0017	0.082	0.42783	T	0.1	0.43913	T	0.015	0.17086	B	0.006	0.12133	B	.	.	.	.	0.999999	0.08975	N	0.91	0.23283	L	3.4	0.06445	T	-2.55	0.75297	D	0.075	0.07535	-0.9246	0.44915	T	0.007	0.02282	T	9	0.003584683	0.00065	T	.	.	.	0.014	0.01968	.	.	0.242825505644	0.23883	0.06286079249604214	0.06225	0.265364884536	0.29093	0.231391102076	0.02073	T	0.082708	0.36889	T	-0.692122	0.00041	T	-0.762956	0.03008	T	0.00628874385665996	0.00070	T	0.00682563	0.00163	T	0.053275492	0.10058	0.0621461	0.12114	0.053275492	0.10058	0.0621461	0.12114	-4.803	0.41388	T	.	.	0.086	0.16538	B	.;.;.	.;.;.	-0.622206	0.01512	0.096	0.38261841953168846	0.02570	0.08835	0.14704	N	AEFBCI	0.082553	0.16716	N	-1.8198645664141	0.00498	0.02145112	-1.91443553567497	0.00458	0.02028973	0.999532729199548	0.40238	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.99	-7.18	0.01354	-1.430000	0.02541	.	.	-1.832000	0.00589	0.000000	0.06391	.	.	0.000000	0.00833	0.3455:0.2572:0.1076:0.2898	0.653	0.00777	982	0.03397	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1305.98	38	chr19	57474334	.	C	A	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.267;DP=876;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.582;SOR=0.660	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1320,0,1402	20	0	1	0
chr19	57808794	57808794	G	A	exonic	ZNF552	.	nonsynonymous SNV	ZNF552:NM_024762:exon3:c.C470T:p.A157V,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.29	N	3.71	T	-0.917	T	0.005	T	0.037	-1.871	0.008	-0.803	0.022	-0.431	2.784	0.018	0.00090596807728	.	0.000399361	8.236e-05	0.0002	8.637e-05	0	0	8.99e-05	0	6.056e-05	0.0001537	4	26028	rs576029108	8.421e-05	0.0002	7.084e-05	9.771e-05	0.0019	7.209e-05	6.755e-05	0.0011	0.0008	0.0004	4.473e-05	0	0.0001	3.75e-05	0.0019	5.58e-05	0.0002	0.0001	0.0003	0.0020	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0003	0	0	9.61e-05	0.0034	0.0002	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	-0.17	0.04298	N	3.71	0.04046	T	2.84	0.00165	N	0.044	0.01658	-0.9175	0.45891	T	0.005	0.01688	T	9	0.017190516	0.00366	T	9.06E-4	0.00844	T	0.018	0.03083	.	.	0.248417906384	0.24464	0.031522407414787665	0.03101	0.557334318704	0.52354	0.230389162898	0.01997	T	0.008331	0.07654	T	-0.405658	0.02125	T	-0.820476	0.01443	T	0.00920337763139408	0.00116	T	0.186781	0.01946	T	0.019427126	0.00472	0.031151643	0.01664	0.019427126	0.00472	0.031151643	0.01664	0.26	0.00269	T	.	.	0.110	0.21239	B	.	.	-0.155911	0.03322	0.580	0.18782001308032792	0.00605	0.00096	0.00628	N	AEFBI	0.009771	0.00061	N	-1.78118286330107	0.00593	0.02554289	-1.7870117084999	0.00802	0.03578075	0.0912039099692399	0.16128	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.96	-0.803	0.10336	0.125000	0.15577	.	.	-0.227000	0.07798	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.6156:0.0:0.163:0.2214	2.784	0.05039	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4359.98	34	chr19	57808794	.	G	A	4359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.810;DP=1142;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.29;MQRankSum=-4.701e+00;QD=9.91;ReadPosRankSum=-1.376e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/1:251,189:440:99:4374,0,6126	20	0	1	0
chr19	58212452	58212452	A	G	exonic	ZNF274	.	nonsynonymous SNV	ZNF274:NM_016324:exon5:c.A956G:p.N319S	.	.	426	1078	16	0	2	18	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.473	P	0.088	B	0.274	N	1.000	N	.	.	3.41	T	-1.002	T	0.008	T	0.033	-2.272	0.004	-0.47	-1.858	-0.241	.	0.024	0.00918949002761	0.0010	0.000998403	0.0010	0.0002	0.0008	0	0	0.0012	0.0011	0.0016	0.0009444	146	154602	rs190213013	0.0014	0.0014	0.0013	0.0014	0.0068	0.0013	0.0013	0.0051	0.0045	0.0003	0.0009	0	0	1.876e-05	0.0068	0.0015	0.0018	0.0016	0.0010	0.0010	0.0011	0.0009	0.0015	0.0009	0.0008	0.0013	0.0012	0.0002	0.0220	0.0009	0	0	0	0	0.0015	0.0009	0.0015	.	.	.	1.0	0.01155	T	0.473	0.36591	P	0.088	0.29688	B	0.274199	0.03791	N	1.646620	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.011	0.00445	-1.0017	0.29430	T	0.008	0.02760	T	8	0.004541546	0.00094	T	0.009189	0.24154	T	0.024	0.04979	.	.	0.207176502487	0.20327	0.042041687510274914	0.04149	0.235332845833	0.26065	0.206556916237	0.00673	T	0.026574	0.19638	T	-0.675816	0.00051	T	-0.75677	0.03230	T	0.0034575339530296	0.00036	T	0.463454	0.13490	T	0.033697676	0.03639	0.04140205	0.04698	0.033697676	0.03638	0.04140205	0.04697	-5.31	0.43228	T	.	.	0.103	0.35288	B	.;.;.;.;.	.;.;.;.;.	-0.826013	0.01057	0.046	0.22980009723723005	0.00950	0.00068	0.00484	N	AEFDBHCI	0.031618	0.03417	N	-1.72447613793533	0.00758	0.03275647	-1.87319309313305	0.00552	0.02450146	0.176455474352768	0.17811	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	0.235	-0.47	0.11525	-0.130000	0.10477	-0.833000	0.07248	-0.462000	0.05112	0.000000	0.06391	0.009000	0.19889	0.031000	0.13245	.	.	.	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	0.04762	3817.11	34	chr19	58212452	.	A	G	3817.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.04;DP=1073;ExcessHet=0.1072;FS=2.683;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=0.899;SOR=0.561	GT:AD:DP:GQ:PL	0/1:102,84:186:99:2042,0,2755	19	0	2	0
chr20	2102135	2102135	G	C	exonic	STK35	.	nonsynonymous SNV	STK35:NM_080836:exon1:c.G254C:p.G85A,	.	.	442	1018	58	4	0	66	0.0313987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0	N	-0.27	T	-1.000	T	0.088	T	0.108	0.736	7.910	-1.58	-0.129	0.219	4.043	0.048	.	.	0.00499201	0.0290	0	0.0312	0	.	0.0226	0	0.0336	0.0022509	348	154602	rs35569160	0.0093	0.0086	0.0090	0.0096	0.0207	0.0091	0.0091	0.0172	0.0168	0.0013	0.0037	0.0145	3.46e-05	0.0030	0.0207	0.0093	0.0106	0.0181	0.0065	0.0065	0.0067	0.0064	0.0183	0.0062	0.0061	0.0152	0.0140	0.0017	0.0022	0.0057	0.0130	0.0002	0.0028	0.0171	0.0096	0.0062	0.0183	0.969	0.02057	T	0.955	0.02582	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20048	N	0.345	0.11182	N	-0.27	0.67367	T	-0.31	0.12099	N	0.087	0.06454	-1.0002	0.29860	T	0.088	0.33885	T	9	0.0032199621	0.00055	T	.	.	.	0.048	0.13305	.	.	0.550461726676	0.54703	0.16462568001023903	0.16382	1.13840482688	0.78847	0.568786382675	0.48506	T	0.003846	0.03252	T	-0.455329	0.01050	T	-0.411889	0.32008	T	0.0035260295607513	0.00037	T	0.478252	0.14398	T	0.026215747	0.01651	0.049031965	0.07407	0.026215747	0.01651	0.049031965	0.07407	-3.411	0.15204	T	.	.	0.065	0.01859	B	.	.	0.154691	0.05464	1.931	0.712979375028716	0.09582	0.12875	0.17532	N	ALL	0.041294	0.06258	N	-1.46821197340051	0.02078	0.09137222	-1.46390537359334	0.02646	0.1220965	0.999999999998893	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.98	-1.58	0.08029	-0.011000	0.12659	0.363000	0.17596	-0.212000	0.08331	0.000000	0.06391	0.226000	0.23749	0.044000	0.14658	0.4268:0.1785:0.3947:0.0	4.043	0.09242	806	0.43582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1148.11	37	chr20	2102135	.	G	C	1148.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.030e-01;DP=808;ExcessHet=0.1072;FS=1.762;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=1.74;SOR=0.962	GT:AD:DP:GQ:PL	0/1:22,15:37:99:350,0,630	19	0	2	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	0/1:57,30:96:99:122,0,1048	5	0	16	0
chr20	6084039	6084039	C	T	splicing	FERMT1	NM_017671:exon13:c.1718+1G>A	.	.	Kindler syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.058	20.8	4.8	2.365	7.758	18.243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.697050	0.93091	33	0.99548748988546631	0.71023	0.99001	0.89785	D	AEFDBI	.	.	.	1.09719036326994	0.98081	17.38615	0.922481559643636	0.96479	14.74772	0.99999999987483	0.74766	0.106106	0.02776	0	0.059962	0.00310	0	0.125526	0.03468	0	0.057018	0.00518	0	0.978593	0.82806	4.8	4.8	0.61157	7.905000	0.86479	7.656000	0.63963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:1.0:0.0:0.0	18.243	0.89912	808	0.43318	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2626.98	35	chr20	6084039	.	C	T	2626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.918;DP=2153;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=1.72;SOR=0.707	GT:AD:DP:GQ:PL	0/1:140,118:258:99:2641,0,3208	20	0	1	0
chr20	9516096	9516096	G	A	exonic	LAMP5	.	nonsynonymous SNV	LAMP5:NM_012261:exon3:c.G334A:p.D112N,	.	.	421	1078	22	1	0	24	0.0110092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.007	B	0.000	N	1.000	D	0.345	N	1.48	T	-1.093	T	0.043	T	0.019	2.463	14.19	4.08	0.881	3.984	12.568	0.072	0.010784639031	.	0.00119808	0.0009	0	0.0002	0	0	0.0001	0.0026	0.0092	0.0008279	128	154602	rs200509210	0.0005	0.0005	0.0003	0.0007	0.0065	0.0005	0.0005	0.0060	0.0058	0	0.0002	0.0003	5.085e-05	0	0.0037	0.0001	0.0008	0.0065	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	0	0	6.531e-05	0.0003	0	0	0.0034	0.0001	0.0005	0.0052	0.202	0.20230	T	0.429	0.13752	T	0.001	0.07471	B	0.007	0.12992	B	0.000036	0.55875	N	0.189333	0.99512	0.81001	D	1.175	0.29870	L	1.48	0.31731	T	-0.84	0.22944	N	0.144	0.14480	-1.0935	0.04974	T	0.043	0.18451	T	9	0.0056346953	0.00125	T	0.010785	0.27705	T	0.072	0.21020	.	.	0.0986583533028	0.09354	0.38427635128069104	0.38342	0.0586717605693	0.06507	0.443458497524	0.31050	T	0.002241	0.01642	T	-0.640608	0.00083	T	-0.68896	0.06449	T	0.0260834277092017	0.01417	T	0.70423	0.31438	T	0.1910646	0.40718	0.15757488	0.36839	0.1910646	0.40718	0.15757488	0.36838	-4.421	0.29840	T	.	.	0.088	0.11558	B	.	.	2.559794	0.33151	19.25	0.99532716215292638	0.69963	0.88439	0.48367	D	AEFBCI	0.427236	0.49126	N	-0.235245939257997	0.31697	1.779919	-0.0266056507923178	0.38518	2.270409	0.999998762075356	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	6.01	4.08	0.46880	3.572000	0.53593	5.883000	0.50667	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1339:0.0:0.8661:0.0	12.568	0.55670	654	0.62520	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	710.98	33	chr20	9516096	.	G	A	710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=-3.004e+00;SOR=0.789	GT:AD:DP:GQ:PL	0/1:47,30:77:99:725,0,1131	20	0	1	0
chr20	10049705	10049705	C	T	exonic	ANKEF1	.	nonsynonymous SNV	ANKEF1:NM_198798:exon6:c.C1136T:p.A379V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.954	P	0.437	B	0.000	D	0.977	D	1.67	L	-0.15	T	-0.803	T	0.214	T	0.653	0.153	4.825	5.6	2.788	3.864	15.463	0.233	0.0507228094859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.08237	T	1.0	0.01155	T	0.954	0.54400	P	0.437	0.45591	B	0.000426	0.44522	D	0.248859	0.976597	0.39290	D	1.79	0.46772	L	-0.15	0.65192	T	-0.22	0.10480	N	0.581	0.60241	-0.8033	0.54950	T	0.214	0.57560	T	10	0.6874958	0.71651	D	0.050723	0.64362	D	0.233	0.53499	0.619	0.75347	0.7457264781	0.74343	0.5138078995225664	0.51302	0.716833638651	0.62019	0.534552574158	0.43675	T	0.008667	0.07944	T	0.0446227	0.57649	T	-0.173679	0.57107	T	0.755097210407257	0.43572	D	0.757524	0.38090	T	0.07955835	0.18183	0.08178266	0.18613	0.07955835	0.18183	0.08178266	0.18613	-2.095	0.03562	T	.	.	0.28	0.51419	B	.;.	.;.	2.403080	0.30876	18.57	0.86540061954191816	0.16604	0.82540	0.41753	D	AEFDIJ	0.161342	0.28738	N	0.245821332840929	0.53431	3.512139	0.260173255748146	0.53229	3.492999	0.0330069554246567	0.14084	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.6	5.6	0.84997	3.887000	0.55910	5.937000	0.51416	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.135000	0.19760	0.0:0.862:0.138:0.0	15.463	0.75106	949	0.11373	Ankyrin repeat-containing domain;Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	207.1	75	chr20	10049705	.	C	T	207.1	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-4.013e+00;DP=1811;ExcessHet=0.6776;FS=252.919;InbreedingCoeff=-0.1874;MLEAC=4;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.56;ReadPosRankSum=1.59;SOR=10.021	GT:AD:DP:GQ:PL	0/1:50,31:81:99:136,0,1051	12	0	4	5
chr20	32456182	32456182	G	A	exonic	NOL4L	.	nonsynonymous SNV	NOL4L:NM_001351680:exon3:c.C323T:p.S108L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.296	B	0.024	B	0.368	N	1.000	D	0.805	L	.	.	-1.062	T	0.083	T	0.088	1.340	10.40	4.09	2.334	6.198	11.949	0.062	0.0068475974796	.	0.000798722	0.0005	0	8.708e-05	0	0	4.641e-05	0	0.0041	0.0004463	69	154602	rs541553258	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0033	0.0032	0	0	0	5.218e-05	1.893e-05	0.0002	7.242e-06	0.0002	0.0036	0.0001	0.0001	7.705e-05	0.0001	0.0027	7.083e-05	5.74e-05	0.0016	0.0013	2.404e-05	0	0	0	0.0002	0	0	2.94e-05	0	0.0027	0.491	0.07969	T	0.346	0.17696	T	0.296	0.32457	B	0.024	0.20255	B	0.368460	0.13564	N	0.696787	1	0.08975	N	.	.	.	.	.	.	-0.38	0.13418	N	0.536	0.56403	-1.0615	0.11385	T	0.083	0.32470	T	9	0.0069964826	0.00159	T	0.006848	0.18121	T	0.062	0.17934	.	.	0.043077524339	0.03247	0.1188255053769968	0.11809	0.238803893762	0.26431	.	.	.	0.025161	0.18867	T	-0.527439	0.00398	T	-0.533457	0.18942	T	0.0635478815302345	0.07715	T	0.90041	0.65400	D	0.039680246	0.05524	0.04895584	0.07378	0.039680246	0.05524	0.04895584	0.07378	-3.546	0.17082	T	.	.	0.075	0.16886	B	.;.;.	.;.;.	2.964535	0.39493	21.0	0.97180648979261375	0.32718	0.97248	0.73568	D	AEFDGBI	0.529619	0.55066	D	-0.284787191324329	0.29735	1.651634	-0.156897260039894	0.33144	1.892876	0.999999998185333	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.04	4.09	0.47038	6.548000	0.73797	11.772000	0.95887	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.122000	0.19250	0.0839:0.0:0.9161:0.0	11.949	0.52232	566	0.70798	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2047.98	36	chr20	32456182	.	G	A	2047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=1.95;SOR=0.670	GT:AD:DP:GQ:PL	0/1:72,79:151:99:2062,0,1615	20	0	1	0
chr20	32839770	32839770	G	A	exonic	MAPRE1	.	nonsynonymous SNV	MAPRE1:NM_012325:exon5:c.G511A:p.A171T,	.	.	418	1086	18	0	0	18	0.00821918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.004	B	0.006	B	0.023	N	0.997	D	0.49	N	0.75	T	-1.091	T	0.076	T	0.253	1.392	10.59	3.08	0.786	1.436	13.315	0.031	.	0.0002	0.00299521	0.0019	0.0003	0.0007	0	0	0.0002	0.0055	0.0121	0.0016494	255	154602	rs374092179	0.0008	0.0008	0.0005	0.0012	0.0121	0.0008	0.0008	0.0115	0.0112	2.987e-05	6.708e-05	0	0	0	0.0050	7.194e-05	0.0011	0.0121	0.0005	0.0005	0.0002	0.0007	0.0108	0.0004	0.0003	0.0084	0.0076	9.623e-05	0	0.0003	0	0	0	0.0034	0.0001	0.0005	0.0108	0.244	0.17468	T	0.34	0.18018	T	0.004	0.12183	B	0.006	0.12133	B	0.022673	0.26589	N	0.399541	0.996799	0.43422	D	0.965	0.23975	L	0.75	0.50192	T	0.48	0.03041	N	0.216	0.24135	-1.0915	0.05286	T	0.076	0.30429	T	10	0.0037770271	0.00070	T	.	.	.	0.031	0.07369	.	.	0.417183330711	0.41332	0.4672995081289453	0.46648	0.367858101756	0.38347	0.461358457804	0.33497	T	0.046655	0.27488	T	-0.489096	0.00657	T	-0.463652	0.26202	T	0.0044250417205482	0.00047	T	0.69903	0.30897	T	0.099409126	0.23461	0.11817439	0.28527	0.099409126	0.23461	0.11817439	0.28526	-4.527	0.31240	T	.	.	0.066	0.02200	B	.	.	1.979463	0.25148	16.66	0.97027241803136388	0.32051	0.84481	0.43563	D	AEFDBCI	0.340668	0.43741	N	-0.718343764915602	0.15507	0.7820598	-0.573407941403257	0.20187	1.086516	0.638446806586041	0.22031	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.11	3.08	0.34576	1.529000	0.35602	5.632000	0.49119	-0.199000	0.08999	0.993000	0.37899	1.000000	0.68203	0.120000	0.19168	0.0:0.0:0.6913:0.3087	13.315	0.59840	286	0.88678	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2814.11	42	chr20	32839770	.	G	A	2814.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.681;DP=995;ExcessHet=0.1072;FS=1.672;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=0.340;SOR=0.614	GT:AD:DP:GQ:PL	0/1:53,60:113:99:1444,0,1171	19	0	2	0
chr20	33217630	33217630	G	C	exonic	BPIFA3	.	nonsynonymous SNV	BPIFA3:NM_001042439:exon1:c.G94C:p.A32P	.	.	426	1075	21	0	0	21	0.00967296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.996	D	0.953	D	0.166	N	0.998	N	0.895	L	1.75	T	-1.069	T	0.112	T	0.511	1.596	11.29	2.28	0.690	0.579	6.506	0.123	.	0.0002	0.00319489	0.0014	0	0.0010	0	0	0.0010	0.0011	0.0057	0.0013195	204	154602	rs181900900	0.0008	0.0008	0.0007	0.0010	0.0056	0.0008	0.0008	0.0052	0.0050	0.0003	0.0007	0.0083	2.519e-05	0	0.0047	0.0003	0.0014	0.0056	0.0009	0.0009	0.0007	0.0010	0.0083	0.0007	0.0007	0.0063	0.0056	0.0001	0	0.0007	0.0061	0	0	0	0.0007	0.0019	0.0083	0.017	0.58626	D	0.014	0.62352	D	0.877	0.68779	P	0.451	0.69275	P	0.165763	0.17523	N	0.481193	0.998	0.22589	N	1.65	0.42232	L	1.75	0.37746	T	-1.1	0.32791	N	0.276	0.33140	-1.0687	0.09701	T	0.112	0.40029	T	10	0.0075567067	0.00172	T	.	.	.	0.123	0.34020	.	.	0.459192005304	0.45545	0.6299885124784714	0.62932	0.0782960899249	0.08811	0.363554656506	0.19902	T	0.030091	0.21412	T	-0.445801	0.01196	T	-0.41191	0.32006	T	0.0636152545167251	0.07724	T	0.648035	0.25918	T	0.25490013	0.48521	0.20711122	0.44955	0.25490013	0.48521	0.20711122	0.44954	-3.708	0.20640	T	.	.	0.147	0.45593	B	.;.	.;.	1.593372	0.20375	14.72	0.99503038794280496	0.68147	0.08710	0.14600	N	AEFDBI	0.086296	0.17498	N	-0.275635036701696	0.30092	1.674727	-0.416724984199146	0.24506	1.342324	1.94871559436246E-4	0.05898	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.36	2.28	0.27583	0.589000	0.23640	1.661000	0.27900	-0.103000	0.15852	0.000000	0.06391	0.004000	0.18990	0.011000	0.09372	0.2333:0.0:0.7667:0.0	6.506	0.21391	96	0.96030	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1655.98	34	chr20	33217630	.	G	C	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.362e+00;DP=817;ExcessHet=0.0000;FS=3.299;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-4.520e-01;SOR=0.462	GT:AD:DP:GQ:PL	0/1:51,70:121:99:1670,0,1178	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	0/1:97,50:159:99:174,0,1407	2	0	19	0
chr20	35000390	35000390	G	A	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon39:c.G5005A:p.G1669S,	.	.	416	1055	48	3	0	54	0.0249538	.	.	728613	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.103	B	0.132	B	0.038	N	0.982	D	1.305	L	-1.7	D	-0.207	T	0.448	T	0.422	2.982	15.94	4.07	2.272	5.376	16.863	0.392	.	0.0027	0.00439297	0.0051	0.0004	0.0023	0	0	0.0036	0.0129	0.0193	0.0044954	695	154602	rs201963394	0.0038	0.0038	0.0032	0.0044	0.0190	0.0037	0.0037	0.0183	0.0179	0.0006	0.0023	0.0005	2.519e-05	0.0002	0.0181	0.0030	0.0043	0.0190	0.0030	0.0030	0.0028	0.0033	0.0151	0.0028	0.0027	0.0124	0.0113	0.0005	0	0.0061	0.0006	0	0	0.0170	0.0036	0.0118	0.0151	0.035	0.43708	D	0.365	0.16717	T	.	.	.	.	.	.	0.038163	0.24316	N	0.205114	0.982128	0.39855	D	.	.	.	-1.7	0.83072	D	-3.35	0.66436	D	0.424	0.46368	-0.2066	0.77501	T	0.448	0.78348	T	10	0.012250483	0.00264	T	.	.	.	0.392	0.70764	.	.	0.624326400291	0.62126	0.25789666232263975	0.25703	0.175981301143	0.19813	0.720171570778	0.70071	T	.	.	.	-0.289717	0.09663	T	-0.17334	0.57136	T	0.0316961208468174	0.02257	T	0.927707	0.73352	D	0.14921352	0.34028	0.30081695	0.56115	0.16378477	0.36542	0.36038232	0.61480	-4.789	0.34463	T	.	.	0.139	0.30608	B	.;.	.;.	4.044325	0.59904	24.2	0.99355405892283677	0.60779	0.92154	0.55065	D	AEFDBHCI	0.773292	0.70735	D	0.0254915060892776	0.43015	2.602944	0.145682470713919	0.46915	2.929722	0.941430718863094	0.27477	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.07	4.07	0.46726	4.877000	0.62779	11.887000	0.98989	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	16.863	0.85889	614	0.66605	Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1985.98	35	chr20	35000390	.	G	A	1985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=881;ExcessHet=0.0000;FS=2.019;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-7.450e-01;SOR=0.510	GT:AD:DP:GQ:PL	0/1:77,77:154:99:2000,0,1698	20	0	1	0
chr20	37007453	37007453	C	G	exonic	RBL1	.	nonsynonymous SNV	RBL1:NM_001323281:exon19:c.G1548C:p.K516N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.888	P	0.765	P	0.000	D	0.974	D	3.09	M	-3.12	D	0.840	D	0.839	D	0.305	3.628	18.46	3.32	1.470	0.392	9.678	0.645	0.0858146876721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	2.269e-05	7.792e-05	7.702e-05	3.801e-05	0	0.0003	0.0002	7.038e-05	6.586e-06	6.573e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	9.495e-05	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.738	0.48822	P	0.765	0.56630	P	0.000005	0.62929	D	0.104648	0.973806	0.39053	D	3.28	0.90206	M	-3.12	0.92774	D	-3.34	0.66325	D	0.708	0.71143	0.840	0.94902	D	0.839	0.94628	D	10	0.8987119	0.89228	D	0.085815	0.74611	D	0.645	0.86536	0.835	0.94294	0.945463439951	0.94489	0.6022124185921854	0.60152	0.625094447251	0.56694	0.728086709976	0.71226	T	0.758	0.93414	D	0.118849	0.66256	D	-0.0670579	0.65836	T	0.990135967731476	0.80349	D	0.882912	0.61284	D	0.88073915	0.89727	0.67431754	0.80880	0.88073915	0.89729	0.67431754	0.80881	-10.734	0.78179	D	.	.	0.883	0.81684	P	.;.	.;.	3.686440	0.52496	23.2	0.9987577306951968	0.95244	0.83174	0.42314	D	AEFBI	0.222942	0.34736	N	0.416761997621375	0.62342	4.448737	0.369751200552894	0.59705	4.150779	0.977451831980098	0.29823	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.29	3.32	0.37134	0.426000	0.21081	0.386000	0.17834	0.446000	0.21189	0.998000	0.41325	0.994000	0.32194	0.992000	0.67800	0.0:0.7242:0.0:0.2758	9.678	0.39217	793	0.45818	Retinoblastoma-associated protein, B-box;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	354.31	33	chr20	37007453	.	C	G	354.31	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.577e+00;DP=1113;ExcessHet=0.6776;FS=128.460;InbreedingCoeff=-0.1019;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.82;ReadPosRankSum=1.10;SOR=9.383	GT:AD:DP:GQ:PL	0/1:90,18:108:9:9,0,2018	17	0	4	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.59	P	0.275	B	0.000	D	1.000	D	1.555	L	-0.07	T	-0.786	T	0.212	T	0.631	3.317	17.15	5.32	2.004	9.089	15.319	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	341.57	131	chr20	38497424	.	A	G	341.57	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.982e+00;DP=1625;ExcessHet=2.5830;FS=165.447;InbreedingCoeff=-0.2003;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=-1.800e-01;SOR=9.953	GT:AD:DP:GQ:PL	0/1:60,28:88:99:110,0,1038	14	0	7	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T,	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.82	M	0.56	T	-0.099	T	0.396	T	0.851	4.753	26.6	5.27	2.134	8.040	15.488	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	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	0.1429	69.59	45	chr20	41100210	.	T	C	69.59	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.482e+00;DP=972;ExcessHet=1.7912;FS=83.153;InbreedingCoeff=-0.1659;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=0.377;SOR=8.550	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,7:28:27:.:.:27,0,357	15	0	6	0
chr20	44719949	44719949	G	A	exonic	CCN5	.	nonsynonymous SNV	CCN5:NM_001323369:exon2:c.G113A:p.R38Q	.	.	427	1094	1	0	0	1	0.00045683	.	.	3292564	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.48	T	0.65	P	0.119	B	0.449	N	0.984	N	0.775	N	0.38	T	-1.059	T	0.075	T	0.393	0.142	4.761	1.25	0.010	1.874	6.985	0.149	0.0171681928142	0.0003	.	0.0001	0.0003	0	0	0	0.0001	0	6.3e-05	8.41e-05	13	154602	rs142450134	5.063e-05	5.062e-05	3.812e-05	6.327e-05	0.0003	4.126e-05	3.779e-05	0.0001	8.677e-05	0.0002	0	0	0	0	0.0003	5.037e-05	8.281e-05	3.479e-05	0.0001	0.0001	0.0002	0.0001	0.0003	8.665e-05	7.257e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	0.0001	0.0010	0	0.623	0.31682	T	0.198	0.27767	T	0.259	0.31472	B	0.027	0.21085	B	0.448622	0.12535	N	0.748495	0.98363	0.24868	N	0.915	0.23335	L	0.38	0.57575	T	-0.9	0.47008	N	0.177	0.28146	-1.0592	0.11956	T	0.075	0.30179	T	10	0.1224184	0.23222	T	0.017168	0.38759	T	0.149	0.39377	.	.	0.0884992946249	0.08302	0.28276754992337383	0.28189	0.263708629876	0.28926	0.256210744381	0.04449	T	0.059	0.30914	T	-0.306447	0.08065	T	-0.398532	0.33555	T	0.0194376364018392	0.00647	T	0.751225	0.43132	T	0.032245107	0.03213	0.032663926	0.02036	0.032245107	0.03212	0.032663926	0.02035	-4.994	0.46431	T	.	.	0.075	0.27939	B	.;.;.	.;.;.	2.027580	0.25767	16.88	0.92168037614814891	0.21531	0.58271	0.30597	D	AEFDGBI	0.303216	0.41125	N	-0.83490701020308	0.12424	0.605542	-0.780328621990213	0.14977	0.7854124	0.999991508832863	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.41	1.25	0.20475	1.357000	0.33694	-0.065000	0.12373	-0.799000	0.03183	0.082000	0.22389	0.000000	0.08366	0.010000	0.09038	0.2117:0.1252:0.6631:0.0	6.985	0.23905	448	0.79501	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, IGFBP|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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1205.98	38	chr20	44719949	.	G	A	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=799;ExcessHet=0.0000;FS=3.650;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-1.570e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1220,0,1334	20	0	1	0
chr20	45221915	45221915	A	C	exonic	SEMG2	.	nonsynonymous SNV	SEMG2:NM_003008:exon2:c.A283C:p.K95Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.997	D	.	.	1.000	N	2.085	M	2.64	T	-1.059	T	0.068	T	0.123	1.445	10.77	-0.876	-0.312	-0.343	3.569	0.093	0.00101449227979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.035	0.52389	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.28	0.64929	M	2.64	0.12780	T	-1.8	0.42384	N	0.14	0.13911	-1.0587	0.12083	T	0.068	0.27743	T	9	0.35977793	0.52637	T	0.001014	0.01096	T	0.093	0.26882	0.726	0.86024	0.227934060464	0.22382	0.04954772755484569	0.04897	0.102706332859	0.11620	0.326726287603	0.14439	T	0.00309	0.02494	T	-0.306412	0.08069	T	-0.677916	0.07112	T	0.189342826604843	0.19806	T	0.774523	0.40643	T	0.13739602	0.31815	0.056270942	0.10024	0.13739602	0.31815	0.056270942	0.10024	-3.436	0.15545	T	.	.	0.242	0.47622	B	.	.	1.343472	0.17504	13.20	0.95801988683030492	0.27860	0.01541	0.05062	N	AEFGBI	0.025653	0.01794	N	-0.427626988199434	0.24505	1.323605	-0.778560441311908	0.15021	0.7878849	5.64529560833593E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.07	-0.876	0.10086	-0.346000	0.07809	-0.036000	0.12731	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4735:0.0:0.5265:0.0	3.569	0.07462	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1914.98	156	chr20	45221915	.	A	C	1914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.820e-01;DP=1611;ExcessHet=0.0000;FS=0.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-4.510e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:73,74:147:99:1929,0,1894	20	0	1	0
chr20	63350051	63350051	C	T	exonic	CHRNA4	.	nonsynonymous SNV	CHRNA4:NM_000744:exon5:c.G1360A:p.G454S	Epilepsy, nocturnal frontal lobe, 1, Autosomal dominant	.	1	1518	3	0	0	3	0.000987167	.	.	203653	Inborn_genetic_diseases|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.95	T	0.001	B	0.005	B	0.000	N	1.000	N	0.145	N	-0.94	T	-0.887	T	0.194	T	0.139	-2.211	0.005	-0.193	-0.056	-0.147	12.235	0.160	0.0745075943865	.	.	0.0009	0	0.0023	0	0	0.0009	0	0.0024	0.000207	32	154602	rs78306886	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	3.231e-05	0.0002	0	0	0.0003	0	0.0002	0.0002	0.0004	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	8.715e-05	0.0003	0.0002	2.406e-05	0	0	0	0	0.0002	0	0.0002	0	0.0008	1.0	0.00964	T	0.357	0.18846	T	0.001	0.07471	B	0.001	0.04355	B	0.000000	0.00162	N	23.961300	1	0.08975	N	-0.305	0.03614	N	-0.94	0.75325	T	-0.06	0.07882	N	0.064	0.03613	-0.8873	0.49163	T	0.194	0.54811	T	10	0.015547037	0.00326	T	0.074508	0.72059	D	0.160	0.41473	.	.	0.453772157364	0.45001	0.231048860098491	0.23019	0.397231007556	0.40817	0.37100815773	0.20977	T	0.202893	0.56120	T	-0.461284	0.00965	T	-0.519651	0.20331	T	0.00605308653931316	0.00067	T	0.524448	0.17180	T	0.04909112	0.08663	0.07633782	0.16897	0.04909112	0.08663	0.07633782	0.16897	-3.501	0.16445	T	0.03734474626800161	0.00248	0.065	0.04640	B	.;.	.;.	-0.819570	0.01069	0.047	0.40278633091310984	0.02832	0.01472	0.04908	N	AEFBI	0.058499	0.10979	N	-1.57011433014381	0.01420	0.06194469	-1.5450640880822	0.02010	0.09184581	6.93613943505824E-4	0.07645	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.55	-0.193	0.12593	-0.145000	0.10248	-5.628000	0.01651	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7993:0.0:0.2007	12.235	0.53821	.	.	Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	1405.98	103	chr20	63350051	.	C	T	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.352;SOR=0.647	GT:AD:DP:GQ:PL	0/1:52,55:107:99:1420,0,1215	20	0	1	0
chr20	63547160	63547160	C	T	exonic	SRMS	.	nonsynonymous SNV	SRMS:NM_080823:exon1:c.G304A:p.V102M,	.	.	429	1083	9	1	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.857	P	0.000	D	0.879	N	3.905	H	0.62	T	-0.254	T	0.375	T	0.451	2.763	15.20	4.51	2.053	1.075	12.701	0.247	0.08619345236	0.0008	.	0.0012	0.0004	0.0017	0.0001	0.0003	0.0009	0.0036	0.0035	0.0010155	157	154602	rs138464879	0.0009	0.0009	0.0008	0.0010	0.0042	0.0009	0.0008	0.0031	0.0030	0.0003	0.0010	0	2.526e-05	0.0004	0.0042	0.0008	0.0009	0.0034	0.0006	0.0006	0.0006	0.0006	0.0021	0.0005	0.0005	0.0011	0.0009	0.0003	0	0.0005	0	0	0.0005	0.0034	0.0008	0.0005	0.0021	0.001	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.857	0.61067	P	0.000176	0.48594	D	0.000000	0.878905	0.28083	N	4	0.96753	H	0.62	0.53302	T	-2.18	0.49187	N	0.469	0.50508	-0.2543	0.76243	T	0.375	0.73302	T	10	0.051735282	0.05101	T	0.086193	0.74686	D	0.247	0.55478	.	.	0.556733452047	0.55333	0.5273764860082296	0.52661	0.634652527307	0.57311	0.46648401022	0.34199	T	0.269718	0.64193	T	-0.355904	0.04367	T	-0.287373	0.46044	T	0.117160839907432	0.14149	T	0.69903	0.30897	T	0.6387308	0.74763	0.50371265	0.71312	0.6387308	0.74764	0.50371265	0.71313	-9.791	0.72650	D	.	.	0.506	0.64835	A	.	.	3.441952	0.47889	22.5	0.99798441916423419	0.88372	0.60453	0.31200	D	AEFDBI	0.077111	0.15530	N	0.347333977292598	0.58599	4.033104	0.124060493655545	0.45782	2.835346	0.0169534973870808	0.12894	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.51	4.51	0.54589	1.023000	0.29668	1.456000	0.26643	0.549000	0.26987	0.604000	0.27780	0.839000	0.27283	0.021000	0.11733	0.0:0.8337:0.1663:0.0	12.701	0.56403	.	.	SH3 domain|SH3 domain|SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1431.98	34	chr20	63547160	.	C	T	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=822;ExcessHet=0.0000;FS=0.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.484;SOR=0.613	GT:AD:DP:GQ:PL	0/1:78,58:136:99:1446,0,1932	20	0	1	0
chr20	63693266	63693266	C	T	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon29:c.C2306T:p.P769L	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant	.	435	1059	27	1	0	29	0.0135072	.	.	430403	not_specified|not_provided|RTEL1-related_disorder|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3|Dyskeratosis_congenita,_autosomal_recessive_5|Dyskeratosis_congenita	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032|MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.119	B	0.016	B	0.048	N	1.000	N	-0.55	N	1.01	T	-0.815	T	0.210	T	0.209	0.674	7.606	2.6	1.021	-0.090	2.886	0.168	0.139368554332	0.0005	0.00159744	0.0015	0.0012	0.0013	0	0.0005	0.0009	0.0011	0.0058	0.0013648	211	154602	rs143967591	0.0011	0.0011	0.0010	0.0012	0.0096	0.0011	0.0010	0.0075	0.0068	0.0006	0.0012	3.833e-05	0.0003	0.0006	0.0096	0.0008	0.0016	0.0058	0.0009	0.0009	0.0010	0.0009	0.0039	0.0008	0.0008	0.0026	0.0021	0.0011	0	0.0010	0.0003	0.0004	0.0006	0.0034	0.0007	0.0024	0.0039	0.467	0.08559	T	0.529	0.11335	T	0.0	0.02946	B	0.0	0.04355	B	0.047948	0.01979	N	2.248960	1	0.08975	N	-0.205	0.04094	N	-1.43	0.80730	T	-0.83	0.22727	N	0.116	0.15609	-0.8145	0.54275	T	0.210	0.56946	T	10	0.00494954	0.00106	T	0.139369	0.82185	D	0.168	0.42943	.	.	0.362933182269	0.35899	0.2539474739144245	0.25308	.	.	0.239184051752	0.02718	T	0.10823	0.42109	T	-0.465828	0.00903	T	-0.439156	0.28903	T	0.0011363816984353	0.00011	T	0.686731	0.29555	T	0.02644599	0.01702	0.022959659	0.00313	0.029458098	0.02445	0.0238321	0.00396	-4.261	0.31538	T	.	.	0.074	0.06341	B	.;.;.;.	.;.;.;.	0.401937	0.07734	4.412	0.81152595751285961	0.13545	0.02960	0.07796	N	AEFDGBCI	0.046712	0.07786	N	-1.0342140388468	0.07900	0.3686039	-0.98034880072449	0.10227	0.5137404	0.995874279844285	0.34380	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.82	2.6	0.30173	-0.461000	0.06789	-0.549000	0.08539	-0.989000	0.01856	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4287:0.2354:0.3359	2.886	0.05314	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	2655.11	38	chr20	63693266	.	C	T	2655.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.33;DP=932;ExcessHet=0.1072;FS=1.818;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-1.414e+00;SOR=0.849	GT:AD:DP:GQ:PL	0/1:48,48:96:99:1276,0,1056	19	0	2	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S,	.	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	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	0/1:149,121:270:99:3128,0,3669	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	0/1:147,81:228:99:1813,0,4058	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	0/1:78,60:138:99:1349,0,1869	6	6	9	0
chr21	30746967	30746967	T	G	exonic	KRTAP21-2	.	nonsynonymous SNV	KRTAP21-2:NM_181617:exon1:c.A236C:p.Y79S,	.	.	427	1088	7	0	0	7	0.0032066	.	.	2337610	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.232	B	0.075	B	.	.	1.000	N	.	.	.	.	-1.006	T	0.065	T	0.341	1.269	10.14	-0.635	0.235	-0.375	3.764	0.031	0.0125015625829	.	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0013	0.000194	30	154602	rs199587941	0.0002	0.0002	0.0001	0.0002	0.0035	0.0002	0.0001	0.0023	0.0019	5.975e-05	4.472e-05	0	0	0	0.0035	9.445e-05	0.0002	0.0013	7.883e-05	7.875e-05	3.856e-05	0.0001	0.0012	4.496e-05	3.511e-05	0.0005	0.0004	0	0	0	0	0	0	0	8.82e-05	0	0.0012	0.0	0.91255	D	0.199	0.27679	T	0.232	0.30664	B	0.075	0.28327	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-7.29	0.94457	D	0.238	0.26837	-1.0061	0.28126	T	0.065	0.27017	T	7	0.017139673	0.00364	T	0.012502	0.31128	T	0.031	0.07369	.	.	0.0611884634855	0.05136	0.13285876787855533	0.13209	0.351425158729	0.36983	.	.	.	0.028245	0.20504	T	-0.40337	0.02200	T	-0.392723	0.34233	T	0.0935192221244569	0.11630	T	0.330567	0.06924	T	0.5106307	0.67716	0.55563015	0.74298	0.5106307	0.67717	0.55563015	0.74299	-6.012	0.46381	T	.	.	0.163	0.36073	B	.	.	1.619543	0.20688	14.86	0.80495402631002511	0.13230	0.03952	0.09354	N	AEFI	0.048546	0.08294	N	-0.743499015063855	0.14810	0.740958	-0.830323738216004	0.13761	0.7156483	1.73413948463077E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.5	-0.635	0.10934	-0.397000	0.07329	-3.238000	0.02945	0.572000	0.28966	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.336:0.2041:0.4599	3.764	0.08136	528	0.73785	.	.	.	.	.	.	Uncertain significance	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	1181.98	33	chr21	30746967	.	T	G	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.950e-01;DP=800;ExcessHet=0.0000;FS=3.340;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=0.409;SOR=0.610	GT:AD:DP:GQ:PL	0/1:69,50:119:99:1196,0,1982	20	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.991	D	0.635	P	0.000	D	0.999	D	2.015	M	1.75	T	-1.041	T	0.094	T	0.604	2.253	13.49	4.65	1.348	2.166	10.542	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2368	698.27	35	chr21	41918930	.	C	G	698.27	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.341e+00;DP=1542;ExcessHet=4.7172;FS=85.931;InbreedingCoeff=-0.3046;MLEAC=9;MLEAF=0.237;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=0.977;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,22:121:99:0|1:41918930_C_G:179,0,3707:41918930	10	0	9	2
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.026	B	0.018	B	0.000	N	0.966	N	1.01	L	1.63	T	-1.066	T	0.041	T	0.356	0.961	8.923	-3.89	-0.592	-2.108	7.143	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	690.28	68	chr21	41918931	.	C	G	690.28	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.016e+00;DP=1649;ExcessHet=4.7172;FS=94.625;InbreedingCoeff=-0.3048;MLEAC=9;MLEAF=0.237;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.977;SOR=9.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,22:121:99:0|1:41918930_C_G:179,0,3707:41918930	10	0	9	2
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.993	D	0.796	P	0.000	D	0.845	D	1.01	L	1.45	T	-0.894	T	0.124	T	0.464	3.123	16.44	5.53	2.607	4.539	14.966	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	693.88	38	chr21	41918933	.	C	G	693.88	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.962e+00;DP=1518;ExcessHet=4.7172;FS=87.197;InbreedingCoeff=-0.2683;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.980;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,22:121:99:0|1:41918930_C_G:180,0,3692:41918930	12	0	9	0
chr21	41918935	41918935	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53C:p.R18T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.651	P	0.15	B	0.052	N	1.000	N	1.935	M	1.93	T	-1.030	T	0.042	T	0.298	-0.400	2.125	0.664	-0.152	0.376	4.864	0.039	0.00493845236522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.15047	T	0.346	0.17696	T	0.651	0.40707	P	0.15	0.34161	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.92	0.23082	T	-2.45	0.53577	N	0.252	0.28498	-1.0300	0.20454	T	0.042	0.18118	T	10	0.07400718	0.11258	T	0.004938	0.12442	T	0.039	0.10176	0.274	0.22528	0.158396225186	0.15383	0.2792123094980505	0.27834	0.43111718306	0.43331	0.306925415993	0.11442	T	0.034186	0.23222	T	-0.204236	0.20195	T	-0.531148	0.19171	T	0.249620780348778	0.22856	T	0.616438	0.23595	T	0.05097029	0.09291	0.045770753	0.06232	0.05097029	0.09291	0.045770753	0.06231	-2.512	0.11262	T	.	.	0.089	0.12276	B	.;.	.;.	0.500997	0.08699	5.474	0.53906906178001035	0.05031	0.63413	0.32082	D	AEFGBCI	0.063035	0.12155	N	-0.949612951554288	0.09701	0.4602946	-1.04496436725723	0.08812	0.4351327	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	560.61	38	chr21	41918935	.	C	G,T	560.61	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.839e+00;DP=1195;ExcessHet=1.1607;FS=104.834;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.65;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:99,0,22:121:99:0|1:41918930_C_G:180,476,4231,0,3755,3692:41918930	16	0	4	0
chr21	41918935	41918935	C	T	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53A:p.R18K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.011	B	0.005	B	0.052	N	1.000	N	1.245	L	1.98	T	-0.968	T	0.029	T	0.147	-0.717	0.918	0.664	-0.152	0.376	4.864	0.021	0.00359601692473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386150948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761	0.08359	T	0.824	0.03783	T	0.006	0.13644	B	0.003	0.08700	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.97	0.22067	T	-0.97	0.25770	N	0.104	0.11483	-0.9676	0.37693	T	0.029	0.12453	T	10	0.038707197	0.02307	T	0.003596	0.08216	T	0.021	0.04004	0.329	0.31357	0.206339911435	0.20273	0.2555764771231582	0.25471	0.271759973214	0.29688	0.306375771761	0.11360	T	0.066724	0.33019	T	-0.387639	0.02786	T	-0.625465	0.10761	T	0.0195589058417432	0.00659	T	0.449255	0.12651	T	0.03039478	0.02696	0.03585901	0.02919	0.03039478	0.02695	0.03585901	0.02918	-2.169	0.04452	T	.	.	0.084	0.09772	B	.;.	.;.	0.305913	0.06811	3.337	0.60145959432842899	0.06393	0.56893	0.30234	D	AEFGBCI	0.066391	0.12999	N	-1.29262350574295	0.03763	0.1686914	-1.29128918624558	0.04547	0.2147446	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	560.61	38	chr21	41918935	.	C	G,T	560.61	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.839e+00;DP=1195;ExcessHet=1.1607;FS=104.834;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.65;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:99,0,22:121:99:0|1:41918930_C_G:180,476,4231,0,3755,3692:41918930	16	0	4	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	1/2:0,23,21:44:99:1655,813,910,884,0,1444	5	1	7	3
chr21	42565848	42565848	A	T	exonic	SLC37A1	.	nonsynonymous SNV	SLC37A1:NM_001320537:exon15:c.A1243T:p.S415C	.	.	415	1060	45	2	0	49	0.0225911	.	.	728926	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.991	D	0.926	D	0.000	D	1.000	D	2.125	M	0.23	T	-0.404	T	0.264	T	0.737	3.804	19.31	4.12	1.637	7.095	12.426	0.412	.	0.0051	0.00738818	0.0063	0.0009	0.0054	0	0.0012	0.0074	0.0088	0.0112	0.0062095	960	154602	rs117821416	0.0063	0.0063	0.0062	0.0065	0.0482	0.0062	0.0062	0.0435	0.0417	0.0012	0.0053	0.0073	2.519e-05	0.0008	0.0482	0.0064	0.0079	0.0105	0.0048	0.0048	0.0048	0.0048	0.0097	0.0045	0.0044	0.0075	0.0067	0.0013	0.0439	0.0057	0.0075	0.0004	0.0005	0.0442	0.0064	0.0095	0.0097	0.001	0.78490	D	0.002	0.79402	D	0.991	0.64070	D	0.926	0.66095	D	0.000000	0.84330	D	0.089981	0.999998	0.58761	D	.	.	.	0.23	0.59717	T	-3.44	0.67477	D	0.777	0.77883	-0.4043	0.71892	T	0.264	0.63490	T	10	0.021000087	0.00494	T	.	.	.	0.412	0.72328	.	.	0.596622473119	0.59341	0.7066432131260653	0.70606	1.18097306513	0.80018	0.637778460979	0.58248	T	0.507714	0.82533	D	-0.152753	0.27883	T	0.0171998	0.71450	D	0.0186816729709919	0.00581	T	0.854615	0.54143	D	0.53632385	0.69190	0.38193932	0.63191	0.53632385	0.69191	0.38193932	0.63191	-9.883	0.73208	D	.	.	0.185	0.40065	B	.;.	.;.	4.452089	0.69213	25.3	0.99030630587834523	0.50786	0.97994	0.78718	D	AEFGBI	0.809050	0.73266	D	0.597923731511423	0.73044	5.902358	0.530957509711058	0.70082	5.453411	0.999999846841137	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.655142	0.61905	0	.	.	4.12	4.12	0.47504	7.375000	0.78897	8.930000	0.78409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	12.426	0.54881	988	0.01987	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2175.98	41	chr21	42565848	.	A	T	2175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.885e+00;DP=965;ExcessHet=0.0000;FS=0.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=2.12;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,92:169:99:1|0:42565845_G_A:2190,0,2957:42565845	20	0	1	0
chr21	43797658	43797658	A	G	exonic	RRP1	.	nonsynonymous SNV	RRP1:NM_003683:exon7:c.A580G:p.I194V,	.	.	436	1050	34	2	0	38	0.0177736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.592	P	0.306	B	0.000	N	0.999	D	2.225	M	0.93	T	-1.048	T	0.082	T	0.063	0.874	8.544	1.02	-0.069	2.122	6.405	0.124	.	0.0067	0.00439297	0.0076	0.0086	0.0029	0	0.0035	0.0083	0.0089	0.0128	0.0070568	1091	154602	rs34224504	0.0065	0.0066	0.0063	0.0068	0.0144	0.0064	0.0064	0.0119	0.0110	0.0070	0.0039	0.0103	0	0.0037	0.0144	0.0065	0.0074	0.0115	0.0067	0.0068	0.0062	0.0073	0.0120	0.0064	0.0063	0.0095	0.0086	0.0081	0.0011	0.0063	0.0101	0	0.0029	0.0034	0.0066	0.0109	0.0120	.	.	.	0.052	0.47581	T	0.198	0.29589	B	0.068	0.27651	B	0.000014	0.62929	N	0.147144	0.998836	0.45528	D	1.65	0.42232	L	0.93	0.44065	T	-0.7	0.19933	N	0.108	0.09349	-1.0479	0.14988	T	0.082	0.32178	T	10	0.0061847866	0.00139	T	.	.	.	0.124	0.34239	.	.	0.228597637076	0.22478	0.1129430152115122	0.11222	0.396317032902	0.40747	0.324425399303	0.14091	T	0.007208	0.06625	T	-0.620224	0.00110	T	-0.653298	0.08724	T	0.00837291945576133	0.00101	T	0.738226	0.35599	T	0.40382156	0.60996	0.3074112	0.56763	0.40382156	0.60997	0.3074112	0.56762	-8.069	0.61540	D	.	.	0.075	0.05360	B	.	.	0.819982	0.11909	8.475	0.79996522551697846	0.12997	0.81082	0.40563	D	AEFDGBCI	0.103219	0.20685	N	-0.573273131429975	0.19761	1.036678	-0.63292922354271	0.18649	0.9971872	0.999574027058866	0.40495	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.77	1.02	0.19102	1.350000	0.33615	1.737000	0.28371	-0.065000	0.16512	0.992000	0.37556	0.461000	0.25002	0.088000	0.17685	0.6597:0.0:0.3403:0.0	6.405	0.20863	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	747.98	126	chr21	43797658	.	A	G	747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.042e+00;DP=1888;ExcessHet=0.0000;FS=0.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.89;ReadPosRankSum=-1.460e+00;SOR=0.607	GT:AD:DP:GQ:PL	0/1:86,41:127:99:762,0,2307	20	0	1	0
chr21	44291142	44291142	C	G	exonic	AIRE	.	nonsynonymous SNV	AIRE:NM_000383:exon8:c.C927G:p.I309M,	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autosomal recessive, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	958977	Polyglandular_autoimmune_syndrome,_type_1|not_provided	MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.955	D	0.009	N	1.000	D	1.695	L	-2.21	D	0.472	D	0.696	D	0.675	3.458	17.71	3.86	1.878	0.910	11.703	0.734	0.051600594119	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	9.06e-05	14	154602	rs74162062	0.0001	0.0001	0.0001	0.0001	0.0003	9.349e-05	8.831e-05	0.0002	0.0001	5.975e-05	0	0	0	0	0.0002	0.0001	9.94e-05	0.0003	0.0001	0.0001	0.0001	6.716e-05	0.0002	6.509e-05	5.321e-05	0.0001	7.899e-05	2.407e-05	0	6.534e-05	0	0	0	0	0.0002	0.0005	0.0002	0.003	0.68238	D	0.005	0.72224	D	0.968	0.56581	D	0.726	0.55126	P	0.009445	0.30355	N	0.149595	0.999666	0.48141	D	1.555	0.39373	L	-2.21	0.86963	D	-2.09	0.47683	N	0.653	0.66358	0.472	0.90148	D	0.696	0.89521	D	10	0.6621865	0.70218	D	0.051601	0.64730	D	0.734	0.90721	.	.	0.935899856031	0.93523	0.6584371286038074	0.65780	0.527928288861	0.50385	0.696090936661	0.66580	T	0.49769	0.81945	T	-0.0635664	0.42348	T	-0.0245376	0.68730	D	0.378336071968079	0.28119	T	0.939106	0.77081	D	0.82902205	0.85834	0.672839	0.80798	0.82902205	0.85836	0.672839	0.80799	-10.954	0.79405	D	0.6659994009639238	0.74024	0.596	0.68731	P	.	.	3.948354	0.57820	23.9	0.99488915186248639	0.67347	0.83499	0.42612	D	AEFDBI	0.358850	0.44938	N	0.378446090113252	0.60256	4.212547	0.3332935450562	0.57506	3.916637	0.999994053241565	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.86	3.86	0.43689	0.478000	0.21922	1.637000	0.27771	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	11.703	0.50845	929	0.16858	Zinc finger, PHD-finger|Zinc finger, PHD-type, conserved site|Zinc finger, PHD-finger|Zinc finger, PHD-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3278.11	40	chr21	44291142	.	C	G	3278.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.320e-01;DP=915;ExcessHet=0.1072;FS=2.800;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=0.807;SOR=0.526	GT:AD:DP:GQ:PL	0/1:68,75:143:99:1759,0,1541	19	0	2	0
chr21	44330725	44330725	A	C	exonic	CFAP410	.	nonsynonymous SNV	CFAP410:NM_001271441:exon6:c.T737G:p.V246G,	.	.	423	1095	2	0	2	4	0.000912409	.	.	1300581	not_provided|CFAP410-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	.	.	1.000	N	.	.	1.32	T	-1.017	T	0.047	T	0.065	0.327	5.775	.	0.336	-2.357	.	0.035	0.002457505785	.	.	0.0003	0	0	0	0	0.0002	0	0.0004	3.84e-05	1	26028	rs750020087	0.0005	0.0005	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	9.511e-05	0	0	2.799e-05	2.08e-05	0.0002	0.0005	0.0006	0.0005	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	0	0	0	0	0	0	0	0.0004	0.0010	0.0002	0.141	0.25560	T	0.086	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.32	0.35219	T	0.41	0.03407	N	0.165	0.17416	-1.0169	0.24722	T	0.047	0.20275	T	6	0.041692138	0.02849	T	0.002458	0.04868	T	0.035	0.08770	.	.	0.0762999501168	0.06990	0.22794923434838618	0.22709	0.0853582528376	0.09647	.	.	.	.	.	.	-0.578476	0.00197	T	-0.734567	0.04123	T	0.00746472569067086	0.00086	T	0.0982902	0.00729	T	.	.	.	.	.	.	.	.	-6.145	0.47477	T	.	.	0.058	0.00681	B	.	.	0.246472	0.06261	2.716	0.82854710379441743	0.14410	0.01425	0.04802	N	AEFDBCI	0.022418	0.01119	N	-1.17894961244584	0.05319	0.2421863	-1.33059016686595	0.04040	0.1897337	0.999827307661184	0.43622	0.634777	0.41761	0	0.643519	0.57511	0	0.564498	0.18976	0	0.664235	0.64389	0	.	.	.	.	.	-1.177000	0.03206	0.068000	0.14222	-0.618000	0.04565	0.004000	0.16614	0.005000	0.19230	0.005000	0.06747	.	.	.	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	1938.98	33	chr21	44330725	.	A	C	1938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.456;DP=975;ExcessHet=0.0000;FS=1.190;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.419;SOR=0.588	GT:AD:DP:GQ:PL	0/1:87,84:171:99:1953,0,1974	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|1:0,114,0:114:99:1|1:44558616_T_G:5082,343,0,5082,343,5082:44558616	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|1:0,112,0:112:99:1|1:44558616_T_G:5012,337,0,5012,337,5012:44558616	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	0/1:167,30,0:197:99:385,0,4323,884,4413,5297	13	0	7	0
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	0/2:24,5,5,0:34:19:244,19,989,0,897,970,231,1017,999,1205	10	0	3	0
chr22	17159184	17159184	G	C	exonic	HDHD5	.	nonsynonymous SNV	HDHD5:NM_033070:exon1:c.C68G:p.A23G,	.	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.52	P	0.14	B	0.093	N	1.000	N	0	N	1.9	T	-1.064	T	0.029	T	0.131	2.068	12.87	-1.27	-0.280	-0.081	4.993	0.011	.	.	.	0.0119	0	.	0	0	0	.	0.5	2.59e-05	4	154602	rs762935429	1.976e-05	1.851e-05	1.785e-05	2.188e-05	0.0005	1.269e-05	1.077e-05	0.0003	0.0002	0	0	0.0004	0	0	0	2.203e-06	9.459e-05	0.0005	3.315e-05	3.286e-05	2.59e-05	4.077e-05	0.0004	1.27e-05	8.04e-06	7.312e-05	3.037e-05	0	0	0	0.0006	0	0	0	1.48e-05	0	0.0004	0.279	0.15561	T	0.545	0.30339	T	0.252	0.37518	B	0.046	0.33554	B	0.092628	0.02469	N	2.156600	1	0.08975	N	.	.	.	1.9	0.25344	T	-0.13	0.31375	N	0.162	0.30574	-1.0637	0.10855	T	0.029	0.12322	T	10	0.0019942522	0.00028	T	.	.	.	0.011	0.01250	0.439	0.49321	0.0297737177859	0.01360	0.2856602383385985	0.28479	0.183019468109	0.20584	0.743837893009	0.73537	T	0.002232	0.01633	T	-0.303529	0.08331	T	-0.673775	0.07368	T	0.375364273786545	0.28004	T	0.329067	0.15423	T	0.040015228	0.05634	0.055125155	0.09611	0.040015228	0.05634	0.055125155	0.09610	-3.592	0.17742	T	.	.	0.064	0.08176	B	.;.	.;.	0.522668	0.08917	5.695	0.89773634207811637	0.19088	0.04800	0.10519	N	ALL	0.042748	0.06672	N	-1.26777256562825	0.04070	0.1830002	-1.36495707322495	0.03632	0.1698515	0.999999999964074	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	2.15	-1.27	0.08863	-0.473000	0.06694	0.291000	0.16873	-0.969000	0.01949	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5715:0.0:0.4285:0.0	4.993	0.13569	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	606.98	35	chr22	17159184	.	G	C	606.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.224e+00;DP=903;ExcessHet=0.0000;FS=1.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-9.800e-01;SOR=0.438	GT:AD:DP:GQ:PL	0/1:20,27:47:99:621,0,470	20	0	1	0
chr22	19275743	19275743	C	A	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon2:c.G130T:p.V44F	.	.	419	1007	92	4	0	100	0.0473037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.964	D	0.924	D	0.000	D	0.999	D	2.91	M	0.98	T	-0.753	T	0.181	T	0.47	2.600	14.65	1.93	0.367	3.255	8.231	0.186	.	0.0060	0.00898562	0.0146	0.0007	0.0087	0	0.0031	0.0116	0.0220	0.0497	0.0099675	1541	154602	rs34869740	0.0080	0.0080	0.0068	0.0092	0.0392	0.0078	0.0078	0.0381	0.0376	0.0008	0.0048	0.0224	2.524e-05	0.0020	0.0312	0.0060	0.0091	0.0392	0.0063	0.0063	0.0061	0.0065	0.0357	0.0059	0.0058	0.0313	0.0296	0.0012	0.0110	0.0042	0.0274	0.0004	0.0015	0.0238	0.0076	0.0133	0.0357	0.035	0.52492	D	0.043	0.64786	D	0.177	0.55854	B	0.325	0.65913	B	0.000108	0.50451	D	0.078972	0.998752	0.45389	D	3.3	0.90472	M	0.98	0.42122	T	-2.53	0.66085	D	0.348	0.38950	-0.7526	0.57799	T	0.181	0.52798	T	10	0.0042898357	0.00086	T	.	.	.	0.186	0.46104	.	.	.	.	0.5550606857815419	0.55433	.	.	0.284310281277	0.08101	T	0.300661	0.67314	T	-0.40804	0.02048	T	-0.330329	0.41431	T	0.106590663868295	0.13067	T	0.980535	0.93576	D	0.22724117	0.45421	0.15075435	0.35541	0.14929381	0.34042	0.15075435	0.35541	-9.455	0.70579	D	0.6859370309383997	0.76300	0.171	0.53603	B	.;.;.	.;.;.	1.874624	0.23810	16.16	0.9936751865389698	0.61283	0.88714	0.48774	D	AEFDBI	0.424985	0.48993	N	-0.167350738109467	0.34498	1.969896	-0.316537505401412	0.27563	1.530398	0.999998934083076	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	4.07	1.93	0.24985	3.457000	0.52771	0.694000	0.20791	-0.804000	0.03133	1.000000	0.71638	0.809000	0.27020	0.133000	0.19684	0.1561:0.7604:0.0:0.0836	8.231	0.30759	749	0.51929	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4400.68	107	chr22	19275743	.	C	A	4400.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-7.930e-01;DP=942;ExcessHet=0.3300;FS=4.437;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=1.07;SOR=0.535	GT:AD:DP:GQ:PL	0/1:44,57:101:99:1327,0,1104	18	0	3	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	0/1:38,28,0:66:99:971,0,1385,1086,1470,2555	15	0	5	0
chr22	20996785	20996785	T	C	exonic	LZTR1	.	nonsynonymous SNV	LZTR1:NM_006767:exon19:c.T2309C:p.V770A,	Noonan syndrome 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	798071	Cardiovascular_phenotype|Hereditary_cancer-predisposing_syndrome|not_specified|Schwannomatosis_2|not_provided	MedGen:CN230736|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0014299,MedGen:C3810283,OMIM:615670,Orphanet:93921|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.99	D	0.98	D	0.000	D	1.000	D	1.735	L	-0.46	T	-0.421	T	0.392	T	0.724	3.541	18.07	5.36	2.246	6.072	13.352	0.335	0.0938021153193	.	.	4.975e-05	0	0	0	0	3.022e-05	0	0.0002	4.53e-05	7	154602	rs752880731	2.942e-05	2.941e-05	2.043e-05	3.851e-05	0.0005	2.217e-05	1.97e-05	0.0002	0.0002	0	0	0	0	0	0.0005	1.259e-05	4.968e-05	0.0003	1.971e-05	1.969e-05	2.571e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.471e-05	0	0.0002	0.197	0.20607	T	0.462	0.12526	T	0.979	0.59044	D	0.581	0.50218	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.5	0.37844	L	-0.46	0.70014	T	-1.43	0.35194	N	0.827	0.82257	-0.4214	0.71347	T	0.392	0.74546	T	10	0.36777124	0.53237	T	0.093802	0.76138	D	0.335	0.65718	0.437	0.48993	0.662442163852	0.65961	0.5158371027638383	0.51506	0.0763063782578	0.08565	0.787131428719	0.80006	T	0.066024	0.32839	T	-0.0741497	0.40660	T	-0.0439635	0.67433	D	0.218964889645576	0.21412	T	0.810219	0.46129	T	0.2103275	0.43326	0.15434203	0.36228	0.2103275	0.43326	0.15434203	0.36227	-9.124	0.68491	D	0.12599599016221305	0.12637	0.433	0.61357	A	.;.	.;.	4.797793	0.77929	26.8	0.99486029985715463	0.67180	0.98758	0.86475	D	AEFGBHCI	0.817808	0.73921	D	0.505935215048662	0.67441	5.081948	0.537756541897708	0.70548	5.521707	0.999999999998515	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.36	5.36	0.76624	6.042000	0.70632	7.785000	0.68758	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	13.352	0.60051	878	0.29785	.;.	.	.	.	.	.	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	1734.98	33	chr22	20996785	.	T	C	1734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.670e-01;DP=919;ExcessHet=0.0000;FS=0.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=-1.412e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/1:78,71:149:99:1749,0,2107	20	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S,	.	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	738.84	17	chr22	21216084	.	C	T	738.84	.	AC=9;AF=0.250;AN=36;BaseQRankSum=2.32;DP=347;ExcessHet=5.0238;FS=1.528;InbreedingCoeff=-0.3403;MLEAC=10;MLEAF=0.278;MQ=43.88;MQRankSum=-1.754e+00;QD=5.43;ReadPosRankSum=0.080;SOR=0.771	GT:AD:DP:GQ:PL	0/1:13,3:16:44:44,0,303	9	0	9	3
chr22	21644159	21644159	G	A	exonic	SDF2L1	.	nonsynonymous SNV	SDF2L1:NM_022044:exon3:c.G650A:p.G217D,	.	.	427	1088	6	1	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.514	P	0.054	B	0.017	N	0.781	D	-0.455	N	-1.22	T	-0.778	T	0.116	T	0.499	1.431	10.73	3.58	1.140	1.954	12.649	0.313	0.0447191739502	0.0038	0.00159744	0.0027	0.0010	0.0013	0	0.0002	0.0044	0.0011	0.0004	0.0027684	428	154602	rs115168940	0.0038	0.0038	0.0039	0.0038	0.0073	0.0037	0.0037	0.0055	0.0049	0.0013	0.0014	0.0059	0	0.0005	0.0073	0.0045	0.0044	0.0005	0.0024	0.0024	0.0024	0.0025	0.0041	0.0022	0.0022	0.0037	0.0036	0.0008	0	0.0020	0.0049	0	0.0004	0.0034	0.0041	0.0024	0.0002	0.57	0.06184	T	0.681	0.06090	T	0.514	0.37393	P	0.054	0.25828	B	0.016671	0.27917	N	0.371241	0.781482	0.34272	D	1.59	0.40313	L	-1.22	0.78752	T	0.1	0.05810	N	0.266	0.30118	-0.7785	0.56387	T	0.116	0.40986	T	10	0.0073853135	0.00168	T	0.044719	0.61626	D	0.313	0.63482	.	.	0.765095103448	0.76294	0.6927252417250336	0.69212	0.726935891434	0.62541	0.406749486923	0.26007	T	0.009684	0.08804	T	-0.301714	0.08499	T	-0.204249	0.54243	T	0.0133324912370801	0.00240	T	0.620638	0.23835	T	0.1369972	0.31739	0.14080918	0.33553	0.1369972	0.31739	0.14080918	0.33552	-3.821	0.21119	T	.	.	0.099	0.16886	B	.	.	1.904878	0.24190	16.30	0.96348574672304754	0.29506	0.65494	0.32756	D	AEFDGBHCI	0.442773	0.50036	N	-0.60194394863958	0.18886	0.9841236	-0.526318390417999	0.21439	1.159821	0.999999999962908	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.630245	0.45026	0	0.735409	0.98432	0	.	.	4.62	3.58	0.40133	1.681000	0.37234	.	.	0.613000	0.49114	0.008000	0.17931	1.000000	0.68203	0.959000	0.51448	0.0:0.1674:0.8326:0.0	12.649	0.56113	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1899.98	33	chr22	21644159	.	G	A	1899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=815;ExcessHet=0.0000;FS=0.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.12;ReadPosRankSum=-8.740e-01;SOR=0.594	GT:AD:DP:GQ:PL	0/1:44,67:111:99:1914,0,1069	20	0	1	0
chr22	22488805	22488805	A	C	exonic	ZNF280B	.	nonsynonymous SNV	ZNF280B:NM_080764:exon4:c.T594G:p.N198K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.001	B	0.002	B	.	.	1.000	N	0.55	N	1.92	T	-0.994	T	0.029	T	0.026	-1.195	0.075	-0.817	-0.351	0.154	1.752	0.066	0.00252688950903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.061	0.04307	-0.9942	0.31512	T	0.029	0.12409	T	9	0.05628407	0.06286	T	0.002527	0.05065	T	.	.	0.475	0.55182	0.0954503805726	0.09146	0.06166468175566257	0.06106	.	.	0.266985476017	0.05751	T	.	.	.	-0.336859	0.05609	T	-0.721651	0.04716	T	0.0755121106860529	0.09403	T	0.305869	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14660	B	.;.	.;.	0.250540	0.06301	2.756	0.4548289947603445	0.03573	0.10114	0.15709	N	AEFBCI	0.091929	0.18615	N	-1.08875478264031	0.06849	0.3164875	-1.11981966354707	0.07322	0.3557024	0.99962066985609	0.41093	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.32	-0.817	0.10289	0.215000	0.17352	.	.	0.756000	0.94297	0.021000	0.19753	0.009000	0.19889	0.156000	0.20513	0.4114:0.3318:0.096:0.1608	1.752	0.02796	976	0.04745	Domain of unknown function DUF4195;Domain of unknown function DUF4195	.	.	.	.	.	Uncertain significance	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	1758.98	38	chr22	22488805	.	A	C	1758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.730e-01;DP=900;ExcessHet=0.0000;FS=0.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=-1.940e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:94,67:161:99:1773,0,2650	20	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	25	583	905	9	0	923	0.441838	.	.	1196252	not_provided|Chronic_myelogenous_leukemia,_BCR-ABL1_positive	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	9572.82	36	chr22	23311788	.	T	TCCGG	9572.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.511;DP=1943;ExcessHet=20.9642;FS=19.140;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=55.14;MQRankSum=-7.359e+00;QD=5.78;ReadPosRankSum=0.550;SOR=1.916	GT:AD:DP:GQ:PL	0/1:63,21:84:99:692,0,2582	5	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	59	994	464	5	0	474	0.192526	.	.	247185	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.986	D	0.771	P	0.000	D	1.000	D	1.13	L	2.66	T	-1.146	T	0.053	T	0.225	5.285	33	4.49	2.258	9.533	16.632	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1509.16	36	chr22	23311830	.	G	A	1509.16	.	AC=9;AF=0.214;AN=42;BaseQRankSum=2.22;DP=1620;ExcessHet=4.7172;FS=18.276;InbreedingCoeff=-0.2741;MLEAC=9;MLEAF=0.214;MQ=57.72;MQRankSum=-8.970e+00;QD=1.86;ReadPosRankSum=-2.564e+00;SOR=2.383	GT:AD:DP:GQ:PL	0/1:71,11:82:99:181,0,1845	12	0	9	0
chr22	24184196	24184196	A	G	exonic	SUSD2	.	nonsynonymous SNV	SUSD2:NM_019601:exon4:c.A500G:p.Q167R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.981	D	0.954	D	0.000	D	0.985	D	2.39	M	2.99	T	-1.110	T	0.073	T	0.726	3.059	16.21	3.66	1.680	5.404	10.627	0.248	0.0159881866537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.0	0.92824	D	0.981	0.59675	D	0.954	0.69447	D	0.000000	0.84330	D	0.000000	0.98526	0.40259	D	3.1	0.87590	M	2.99	0.09262	T	-2.03	0.46673	N	0.827	0.82257	-1.1100	0.03070	T	0.073	0.29483	T	10	0.76971775	0.76984	D	0.015988	0.37021	T	0.248	0.55615	0.531	0.63855	0.318252033908	0.31440	0.9404017170496947	0.94021	0.757803639477	0.64090	0.532331466675	0.43363	T	0.04606	0.27311	T	0.0259974	0.55189	T	-0.200433	0.54606	T	0.964543879032135	0.66990	D	0.855414	0.54290	D	0.26278225	0.49341	0.26346824	0.52152	0.26278225	0.49341	0.26346824	0.52151	-4.037	0.24355	T	.	.	0.677	0.72014	P	.	.	4.053398	0.60094	24.2	0.99698774388286016	0.80453	0.96689	0.70415	D	AEFBI	0.768213	0.70384	D	0.414389128409707	0.62212	4.433595	0.290003101562571	0.54953	3.659138	0.999998116928616	0.74766	0.646311	0.45356	0	0.624146	0.53433	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.66	3.66	0.41111	4.390000	0.59409	11.053000	0.85327	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.086000	0.17578	1.0:0.0:0.0:0.0	10.627	0.44707	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	2577.98	36	chr22	24184196	.	A	G	2577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.426e+00;DP=976;ExcessHet=0.0000;FS=2.414;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=-5.860e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:96,105:201:99:2592,0,2447	20	0	1	0
chr22	27798945	27798945	-	TGCTGC	exonic	MN1	.	nonframeshift insertion	MN1:NM_002430:exon1:c.1598_1599insGCAGCA:p.Q550_R551insQQ,	Meningioma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2352190	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.0021	0.0071	0.0015	0	0.0056	0	0.0004	0.0002689	7	26028	rs572936881	0.0048	0.0049	0.0050	0.0047	0.0056	0.0047	0.0047	0.0054	0.0054	0.0019	0.0037	0.0045	0.0008	0.0027	0.0016	0.0056	0.0045	0.0005	0.0039	0.0039	0.0042	0.0036	0.0058	0.0036	0.0035	0.0053	0.0051	0.0018	0.0110	0.0033	0.0047	0.0014	0.0018	0.0034	0.0058	0.0059	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2854.12	35	chr22	27798945	.	T	TTGC,TTGCTGC	2854.12	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.942;DP=853;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=17.19;ReadPosRankSum=1.01;SOR=0.648	GT:AD:DP:GQ:PL	0/2:18,0,26:44:99:1011,1066,1822,0,757,678	17	0	3	0
chr22	27799019	27799019	C	T	exonic	MN1	.	nonsynonymous SNV	MN1:NM_002430:exon1:c.G1525A:p.G509R,	Meningioma, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	0.000	D	1.000	D	0.805	L	0.82	T	-0.712	T	0.202	T	0.844	3.945	20.2	4.78	2.192	5.289	16.417	0.350	0.450389650239	.	.	1.08e-05	0	0	0	0	1.944e-05	0	0	6.5e-06	1	154602	rs750223477	1.371e-06	1.368e-06	1.363e-06	1.378e-06	1.163e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.998e-07	0	1.163e-05	6.579e-06	6.57e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.7	0.43825	L	0.82	0.48142	T	-5.24	0.83967	D	0.597	0.61596	-0.7123	0.59839	T	0.202	0.55822	T	10	0.7261462	0.73986	D	0.45039	0.94331	D	0.350	0.67142	0.163	0.06730	0.830204933196	0.82859	0.5631363646666874	0.56240	.	.	0.878211259842	0.93718	D	0.510078	0.82662	D	0.162359	0.70420	D	-0.0045596	0.70039	D	0.991491615772247	0.81797	D	0.777822	0.41150	T	0.8752438	0.89280	0.79458374	0.87931	0.8752438	0.89281	0.79458374	0.87931	-3.146	0.11832	T	.	.	0.911	0.83490	P	.	.	4.501093	0.70397	25.5	0.99884114199925322	0.95970	0.95884	0.66568	D	AEFDBCI	0.744043	0.68715	D	0.487671595248547	0.66368	4.941222	0.496996680669056	0.67789	5.131485	0.999999999999863	0.74766	0.582742	0.33608	0	0.547309	0.14657	0	0.606884	0.38211	0	0.620976	0.48614	0	.	.	4.78	4.78	0.60666	4.346000	0.59146	7.465000	0.59093	0.442000	0.21104	0.933000	0.32380	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	16.417	0.83582	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	1	0	0	0	0	0	0	0.02381	647.98	35	chr22	27799019	.	C	T	647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=840;ExcessHet=0.0000;FS=0.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-7.870e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/1:38,25:63:99:662,0,1028	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|1:95,13:108:30:0|1:27983493_C_G:30,0,3626:27983493	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|1:95,13:108:30:0|1:27983493_C_G:30,0,3626:27983493	1	0	7	13
chr22	30264407	30264407	C	T	exonic	OSM	.	nonsynonymous SNV	OSM:NM_001319108:exon3:c.G172A:p.G58R	.	.	425	1095	2	0	0	2	0.000912409	.	.	2379467	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.974	D	0.432	B	0.201	N	1.000	N	0.975	L	0.88	T	-1.058	T	0.069	T	0.349	0.303	5.642	1.56	0.356	-0.028	6.134	0.124	0.0170308012819	7.8e-05	.	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001164	18	154602	rs201309766	6.979e-05	7.046e-05	6.399e-05	7.564e-05	0.0002	5.847e-05	5.458e-05	7.31e-06	5.72e-06	2.987e-05	0	0.0027	0	1.875e-05	0.0002	1.259e-05	0.0002	2.319e-05	0.0001	0.0001	0.0001	9.414e-05	0.0003	6.512e-05	5.323e-05	8.875e-05	5.285e-05	2.413e-05	0	0.0003	0.0023	0	0	0	1.47e-05	0.0010	0	0.849	0.02760	T	0.107	0.37730	T	0.974	0.57829	D	0.432	0.45448	B	0.200627	0.16609	N	0.447704	1	0.08975	N	0.975	0.24501	L	0.88	0.46028	T	-3.05	0.62976	D	0.115	0.28849	-1.0583	0.12184	T	0.069	0.28346	T	10	0.012436718	0.00267	T	0.017031	0.38558	T	0.124	0.34239	0.608	0.74063	0.51098835382	0.50741	0.3514713097159909	0.35061	0.616651085367	0.56118	0.346108019352	0.17347	T	0.792151	0.94611	D	-0.264782	0.12344	T	-0.43659	0.29190	T	0.135352280672931	0.15868	T	0.684832	0.29327	T	0.1265225	0.29632	0.10349002	0.24831	0.1265225	0.29632	0.10349002	0.24830	-3.892	0.22182	T	.	.	0.271	0.50527	B	.;.	.;.	1.102738	0.14872	11.40	0.77363440788990545	0.11845	0.06112	0.12089	N	AEFBCI	0.074140	0.14852	N	-0.578131697500554	0.19610	1.027672	-0.739898980609514	0.15971	0.8426153	0.99972530039703	0.42220	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.73	1.56	0.22423	-0.144000	0.10263	0.268000	0.16624	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.7583:0.0:0.2417	6.134	0.19440	338	0.86082	.;.	.	.	.	.	.	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	373.98	33	chr22	30264407	.	C	T	373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.82;DP=743;ExcessHet=0.0000;FS=2.717;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.13;ReadPosRankSum=-4.180e-01;SOR=1.162	GT:AD:DP:GQ:PL	0/1:32,14:46:99:388,0,778	20	0	1	0
chr22	30374007	30374007	-	GGGAGCTGG	exonic	CCDC157	.	nonframeshift insertion	CCDC157:NM_001017437:exon9:c.1588_1589insGGGAGCTGG:p.L532_E533insGEL	.	.	412	1108	1	0	1	2	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	1.363e-06	1.377e-06	8.998e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.998e-07	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	812.94	35	chr22	30374007	.	C	CGGGAGCTGG	812.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.867;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.63;ReadPosRankSum=0.750;SOR=0.651	GT:AD:DP:GQ:PL	0/1:30,22:52:99:827,0,1178	20	0	1	0
chr22	39513545	39513545	T	C	exonic	MIEF1	.	nonsynonymous SNV	MIEF1:NM_001304564:exon6:c.T614C:p.I205T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.684	P	0.419	B	0.000	D	1.000	D	1.04	L	3.12	T	-1.046	T	0.027	T	0.692	3.042	16.15	6.07	2.326	6.282	16.629	0.197	0.0111785295086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.63226	D	0.017	0.60972	D	0.684	0.41517	P	0.419	0.45047	B	0.000000	0.84330	D	0.078099	0.999927	0.51308	D	1.59	0.40313	L	3.12	0.08106	T	-1.97	0.45587	N	0.668	0.67650	-1.0462	0.15476	T	0.027	0.11663	T	10	0.28728196	0.46311	T	0.011179	0.28538	T	0.197	0.47942	0.479	0.55823	0.434606191737	0.43079	0.6967121627676782	0.69612	0.646926983572	0.58097	0.768396914005	0.77185	T	0.023916	0.18170	T	-0.00951075	0.50334	T	-0.251438	0.49675	T	0.673523485660553	0.39495	D	0.941806	0.78262	D	0.6869494	0.77346	0.41197166	0.65413	0.6869494	0.77347	0.41197166	0.65413	-6.327	0.48936	T	.	.	0.511	0.65078	A	.;.;.	.;.;.	3.964871	0.58176	23.9	0.99494184934074625	0.67630	0.98101	0.79606	D	AEFDBI	0.785088	0.71558	D	0.268882310333112	0.54578	3.623107	0.385690595718469	0.60681	4.258515	0.999999999999953	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	6.263000	0.72483	7.926000	0.74773	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	16.629	0.84866	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1590.98	35	chr22	39513545	.	T	C	1590.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.286e+00;DP=852;ExcessHet=0.0000;FS=3.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-1.004e+00;SOR=0.465	GT:AD:DP:GQ:PL	0/1:83,67:150:99:1605,0,2178	20	0	1	0
chr22	39663823	39663823	G	C	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon18:c.G3474C:p.Q1158H	.	.	256	1257	9	0	0	9	0.00356718	.	.	2819537	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.997	D	0.000	D	1.000	D	1.15	L	-4.32	D	0.866	D	0.886	D	0.402	3.356	17.30	5.4	2.521	2.488	19.174	0.495	0.18197023949	0.0037	0.000798722	0.0035	0.0009	0.0009	0	0.0017	0.0057	0.0022	0.0005	0.0034346	531	154602	rs58500586	0.0040	0.0040	0.0040	0.0040	0.0040	0.0039	0.0039	0.0039	0.0038	0.0008	0.0013	0.0334	0	0.0014	0.0033	0.0040	0.0049	0.0005	0.0032	0.0032	0.0031	0.0032	0.0039	0.0029	0.0028	0.0035	0.0034	0.0008	0	0.0036	0.0325	0	0.0008	0	0.0039	0.0033	0.0002	0.062	0.39097	T	0.099	0.39340	T	0.995	0.77913	D	0.834	0.86255	P	0.000001	0.62929	D	0.057229	0.999703	0.48408	D	1.53	0.38800	L	-4.32	0.97218	D	-1.85	0.43524	N	0.424	0.49965	0.866	0.95222	D	0.886	0.96202	D	10	0.0099307	0.00223	T	0.18197	0.85590	D	0.495	0.78036	0.322	0.30226	0.575872055055	0.57256	0.7720933594612088	0.77159	0.919939869185	0.71406	0.56018435955	0.47294	T	0.313575	0.68531	T	-0.164328	0.26097	T	-0.0078684	0.69824	D	0.0288592784236747	0.01817	T	0.870713	0.57574	D	0.18445477	0.39761	0.17871086	0.40557	0.18445477	0.39760	0.17871086	0.40557	-10.51	0.80738	D	.	.	0.226	0.46539	B	.;.;.;.	.;.;.;.	3.645095	0.51706	23.1	0.99636912810891531	0.76387	0.81778	0.41114	D	AEFDGBHCI	0.639350	0.61743	D	0.407672679434896	0.61845	4.39106	0.404821502751809	0.61864	4.392677	0.999999999998786	0.74766	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	5.4	5.4	0.77957	2.568000	0.45628	1.950000	0.29880	-0.724000	0.03774	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:0.0:1.0:0.0	19.174	0.93579	843	0.36859	.;.;.;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4342.98	35	chr22	39663823	.	G	C	4342.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.540e-01;DP=1020;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-6.750e-01;SOR=0.672	GT:AD:DP:GQ:PL	0/1:124,172:296:99:4357,0,2903	20	0	1	0
chr22	41586172	41586172	C	T	exonic	PMM1	.	nonsynonymous SNV	PMM1:NM_002676:exon2:c.G109A:p.A37T,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	0.173	N	1.000	N	0.655	N	-4.82	D	0.203	D	0.799	D	0.087	2.189	13.28	1.96	0.216	1.496	6.133	0.258	0.0745809131451	.	0.000199681	0.0001	9.796e-05	0.0002	0	0	4.538e-05	0	0.0005	9.7e-05	15	154602	rs542899408	7.883e-05	8.209e-05	6.412e-05	9.369e-05	0.0007	6.68e-05	6.214e-05	0.0005	0.0005	5.985e-05	0.0001	3.829e-05	0	0	0.0005	3.418e-05	0.0001	0.0007	5.254e-05	5.25e-05	6.426e-05	4.029e-05	0.0006	2.556e-05	1.829e-05	0.0002	9.003e-05	7.218e-05	0	0	0	0	0	0	2.941e-05	0	0.0006	0.263	0.16412	T	0.311	0.19660	T	0.0	0.02946	B	0.0	0.01387	B	0.172779	0.17327	N	0.579827	0.961079	0.26122	N	0.79	0.19579	N	-4.82	0.98198	D	-0.37	0.13226	N	0.29	0.32812	0.203	0.85960	D	0.799	0.93198	D	10	0.07840848	0.12493	T	0.074581	0.72077	D	0.258	0.56959	0.331	0.31681	0.923209768708	0.92242	0.33109612779718284	0.33022	0.343857825352	0.36312	0.406272530556	0.25940	T	0.690261	0.90987	D	-0.260927	0.12793	T	-0.260861	0.48738	T	0.0173662253853184	0.00475	T	0.489851	0.15048	T	0.034704678	0.03946	0.053919658	0.09175	0.034704678	0.03946	0.053919658	0.09175	-5.305	0.39993	T	.	.	0.081	0.08368	B	.	.	1.777443	0.22601	15.69	0.96056974389854899	0.28582	0.73038	0.35733	D	AEFBI	0.222293	0.34681	N	-0.88754881873684	0.11138	0.5358867	-0.780586264683251	0.14971	0.7850493	0.950279873373783	0.27887	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	5.18	1.96	0.25203	1.226000	0.32167	1.786000	0.28758	-0.860000	0.02636	0.548000	0.27330	0.928000	0.28476	0.485000	0.28678	0.0:0.6429:0.1339:0.2233	6.133	0.19432	107	0.95615	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1816.11	33	chr22	41586172	.	C	T	1816.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.57;DP=822;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=1.38;SOR=0.704	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1083,0,1107	19	0	2	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	0/1:10,3:13:53:53,0,244	18	0	3	0
chr22	46297422	46297422	G	T	exonic	GTSE1	.	nonsynonymous SNV	GTSE1:NM_016426:exon2:c.G22T:p.D8Y,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	1.000	N	.	.	3.0	T	-0.989	T	0.018	T	0.165	2.925	15.75	0.068	0.080	0.009	3.415	0.034	0.00359022138172	0.0022	0.000798722	0.0019	0.0004	0.0011	0	0.0006	0.0029	0.0055	0.0006	0.0019211	297	154602	rs201868940	0.0029	0.0030	0.0031	0.0028	0.0033	0.0029	0.0028	0.0032	0.0032	0.0003	0.0017	0.0103	0	0.0004	0.0005	0.0033	0.0029	0.0004	0.0018	0.0018	0.0019	0.0018	0.0030	0.0016	0.0016	0.0027	0.0026	0.0006	0	0.0007	0.0089	0	9.409e-05	0	0.0030	0.0019	0.0002	0.003	0.68238	D	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.0	0.09167	T	-1.66	0.39692	N	0.237	0.26717	-0.9892	0.32803	T	0.018	0.07282	T	6	0.004812926	0.00102	T	0.00359	0.08216	T	0.034	0.08419	.	.	0.322230723748	0.31824	0.1897403424630426	0.18892	0.561206550401	0.52626	0.459089487791	0.33185	T	.	.	.	-0.581865	0.00188	T	-0.608456	0.12110	T	0.0594588973204298	0.07083	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.21201	B	.	.	1.894186	0.24061	16.25	0.98556596083164094	0.42922	0.02206	0.06433	N	ALL	0.044940	0.07291	N	-0.613890695189538	0.18526	0.9625419	-0.804448488505187	0.14388	0.7515169	0.999999966901385	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	2.35	0.068	0.13679	0.112000	0.15312	0.729000	0.21072	-0.169000	0.11342	0.001000	0.13787	0.001000	0.17328	0.006000	0.07323	0.1664:0.2724:0.5612:0.0	3.415	0.06946	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1756.98	34	chr22	46297422	.	G	T	1756.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.294;DP=862;ExcessHet=0.0000;FS=1.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=-1.689e+00;SOR=0.566	GT:AD:DP:GQ:PL	0/1:92,78:170:99:1771,0,2058	20	0	1	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	0|1:65,50,0:115:99:1|0:49922276_G_T:1648,0,2391,1843,2542,4385:49922276	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	1|2:0,53,49:102:99:0|1:49922276_G_T:3863,1830,1776,2087,0,2078:49922276	7	1	7	0
chr22	50518185	50518185	G	A	exonic	NCAPH2	.	nonsynonymous SNV	NCAPH2:NM_001185011:exon7:c.G553A:p.V185I	.	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.002	B	0.002	B	0.303	N	1.000	N	-0.895	N	.	.	-0.990	T	0.026	T	0.14	0.729	7.873	2.83	0.824	2.248	6.741	0.102	.	7.7e-05	0.00239617	0.0015	9.667e-05	0.0003	0.0007	0	0.0002	0.0011	0.0095	0.0013066	202	154602	rs141520277	0.0007	0.0007	0.0004	0.0010	0.0097	0.0007	0.0007	0.0091	0.0089	2.987e-05	0.0002	0	0.0004	0.0001	0.0007	9.892e-05	0.0009	0.0097	0.0004	0.0004	0.0002	0.0007	0.0089	0.0004	0.0003	0.0068	0.0061	0.0001	0	0.0005	0	0.0002	9.413e-05	0	0.0002	0	0.0089	0.441	0.10482	T	0.662	0.10317	T	0.002	0.09854	B	0.002	0.06944	B	0.302923	0.14566	N	0.680496	0.999956	0.19072	N	-0.55	0.02420	N	.	.	.	-0.25	0.12661	N	0.115	0.12484	-0.9903	0.32525	T	0.026	0.11309	T	9	0.0058460534	0.00131	T	.	.	.	0.102	0.29158	.	.	0.043077524339	0.03247	0.15264807490715637	0.15186	0.0876526127641	0.09892	0.26955395937	0.06083	T	0.062638	0.31969	T	-0.530691	0.00380	T	-0.527401	0.19548	T	0.0134559734271834	0.00245	T	0.526647	0.21331	T	0.016304871	0.00189	0.020559615	0.00142	0.016304871	0.00189	0.020559615	0.00142	-4.001	0.30229	T	.	.	0.067	0.06205	B	.;.;.;.;.	.;.;.;.;.	2.317690	0.29672	18.20	0.90085364007390722	0.19369	0.22735	0.21846	N	AEFBCI	0.034646	0.04329	N	-0.986672695720712	0.08887	0.4184748	-0.77080244989161	0.15211	0.7989128	0.995998143665359	0.34457	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.23	2.83	0.32150	2.972000	0.48948	3.962000	0.40756	-0.105000	0.15698	0.989000	0.36753	0.994000	0.32194	0.138000	0.19872	0.765:0.1521:0.0829:0.0	6.741	0.22623	641	0.64016	Condensin II complex subunit H2, middle domain;.;Condensin II complex subunit H2, middle domain;Condensin II complex subunit H2, middle domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1227.98	34	chr22	50518185	.	G	A	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.718;DP=832;ExcessHet=0.0000;FS=2.510;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=-6.340e-01;SOR=0.464	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1242,0,1402	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	0/1:220,58:278:99:.:.:909,0,8865	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	0/1:209,76:285:99:.:.:1610,0,4557	19	0	2	0
chrX	6533793	6533793	C	0	exonic	VCX3A	.	.	.	.	.	0	211	6	0	9	15	0.0140187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	588.78	41	chrX	6533793	.	C	T,*	588.78	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=3.05;DP=3620;ExcessHet=0.1072;FS=0.484;InbreedingCoeff=-0.0769;MLEAC=1,1;MLEAF=0.026,0.026;MQ=46.67;MQRankSum=-4.214e+00;QD=1.55;ReadPosRankSum=-1.932e+00;SOR=0.760	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:177,0,45:222:99:.:.:1868,2218,8560,0,5410,4955	17	0	1	2
chrX	6533798	6533798	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G508A:p.V170M,	.	.	440	949	96	2	35	135	0.0500501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.147	B	0.012	B	.	.	1.000	N	0	N	1.95	T	-1.009	T	0.014	T	0.129	-0.572	1.426	-1.19	-0.254	0.040	2.317	0.016	.	0.0069	0.0111258	0.0082	0.0107	0.0039	0.0002	0.0084	0.0092	0.0102	0.0105	0.0016905	44	26028	rs150302824	0.0013	0.0039	0.0020	1.813e-05	0.0039	0.0013	0.0013	0.0022	0.0017	0.0002	0.0004	0.0017	0.0001	0.0060	0.0039	0.0012	0.0016	0.0012	0.0038	0.0066	0.0051	4.212e-05	0.0069	0.0035	0.0033	0.0048	0.0046	0.0021	0.0018	0.0007	0.0067	0.0003	0.0033	0.0123	0.0054	0.0024	0.0069	0.18	0.21968	T	0.053	0.47336	T	0.147	0.27870	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	0.14	0.08730	N	1.95	0.22474	T	-1.11	0.32991	N	0.061	0.03283	-1.0093	0.27136	T	0.014	0.05657	T	9	0.0061380565	0.00138	T	.	.	.	0.016	0.02506	.	.	0.043077524339	0.03247	0.0029042973972772407	0.00270	0.268142659766	0.29341	0.492105185986	0.37731	T	0.008069	0.07427	T	-0.801426	0.00008	T	-0.959347	0.00234	T	0.0014211687957868	0.00014	T	0.418458	0.11053	T	0.07575911	0.17089	0.0887198	0.20703	0.07575911	0.17089	0.0887198	0.20702	-7.283	0.56074	T	.	.	0.128	0.27161	B	.;.	.;.	0.636114	0.10045	6.796	0.36933765174065997	0.02404	0.00020	0.00220	N	AEFI	.	.	.	.	.	.	.	.	.	1.41924753792295E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	-1.19	0.09091	-2.402000	0.01125	-3.692000	0.02601	-1.745000	0.00696	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4005:0.3328:0.2667	2.317	0.03945	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.08333	3764.59	41	chrX	6533798	.	C	T,*	3764.59	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=0.852;DP=4116;ExcessHet=0.3300;FS=3.994;InbreedingCoeff=-0.1201;MLEAC=2,1;MLEAF=0.056,0.028;MQ=50.61;MQRankSum=-9.630e-01;QD=5.17;ReadPosRankSum=-1.693e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:177,0,45:222:99:.:.:1868,2218,8560,0,5410,4955	15	0	2	3
chrX	6533798	6533798	C	0	exonic	VCX3A	.	.	.	.	.	440	949	96	2	35	135	0.0500501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3764.59	41	chrX	6533798	.	C	T,*	3764.59	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=0.852;DP=4116;ExcessHet=0.3300;FS=3.994;InbreedingCoeff=-0.1201;MLEAC=2,1;MLEAF=0.056,0.028;MQ=50.61;MQRankSum=-9.630e-01;QD=5.17;ReadPosRankSum=-1.693e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:177,0,45:222:99:.:.:1868,2218,8560,0,5410,4955	15	0	2	3
chrX	6533801	6533801	G	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C505G:p.Q169E,	.	.	437	999	51	0	35	86	0.0248902	.	.	1196393	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	no_assertion_criteria_provided	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.416	B	0.055	B	.	.	1.000	N	1.445	L	2.35	T	-0.965	T	0.011	T	0.031	-2.954	0.001	-1.19	-1.237	-1.919	1.932	0.026	.	0.0098	0.0116556	0.0019	0.0108	0.0004	0.0031	0.0016	0.0009	0.0017	0.0009	0.0018057	47	26028	rs137964452	0.0004	0.0012	0.0005	0.0002	0.0007	0.0003	0.0003	0.0003	0.0003	0.0003	3.166e-05	0	0.0004	0.0016	0.0007	0.0004	0.0003	0.0003	0.0011	0.0030	0.0014	0	0.0026	0.0009	0.0008	0.0021	0.0019	0.0026	0	0.0004	0.0009	0.0007	0	0	0.0006	0	0	1.0	0.09989	T	1.0	0.03886	T	0.416	0.35222	B	0.055	0.25995	B	.	.	.	.	1	0.08975	N	0.11	0.08516	N	2.35	0.16217	T	-0.26	0.14193	N	0.072	0.08506	-0.9646	0.38290	T	0.011	0.03949	T	9	0.0056487024	0.00125	T	.	.	.	0.026	0.05648	.	.	0.043077524339	0.03247	8.920462994297167E-4	0.00082	0.28885402027	0.31292	0.502566754818	0.39186	T	0.001323	0.00800	T	-0.921897	0.00000	T	-1.14257	0.00010	T	0.0691892443533896	0.08538	T	0.482252	0.15733	T	0.08899886	0.20780	0.08663842	0.20087	0.08899886	0.20779	0.08663842	0.20086	-3.392	0.14949	T	.	.	0.035	0.00008	B	.;.	.;.	-0.785054	0.01137	0.053	0.10694135607750728	0.00141	0.00075	0.00520	N	AEFI	.	.	.	.	.	.	.	.	.	1.79158850418598E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	-1.19	0.09091	-1.991000	0.01567	-4.683000	0.02035	0.163000	0.17726	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.4706:0.0:0.2622:0.2672	1.932	0.03126	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05263	425.74	41	chrX	6533801	.	G	C,*	425.74	.	AC=1,1;AF=0.026,0.026;AN=38;DP=3898;ExcessHet=0.1072;FS=5.835;InbreedingCoeff=-0.0769;MLEAC=1,1;MLEAF=0.026,0.026;MQ=45.60;QD=1.14;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:177,0,45:222:99:.:.:1868,2218,8560,0,5410,4955	17	0	1	2
chrX	6533801	6533801	G	0	exonic	VCX3A	.	.	.	.	.	437	999	51	0	35	86	0.0248902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	425.74	41	chrX	6533801	.	G	C,*	425.74	.	AC=1,1;AF=0.026,0.026;AN=38;DP=3898;ExcessHet=0.1072;FS=5.835;InbreedingCoeff=-0.0769;MLEAC=1,1;MLEAF=0.026,0.026;MQ=45.60;QD=1.14;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:177,0,45:222:99:.:.:1868,2218,8560,0,5410,4955	17	0	1	2
chrX	6533824	6533883	TCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	-	exonic	VCX3A	.	nonframeshift deletion	VCX3A:NM_016379:exon3:c.423_482del:p.V160_E179del,	.	.	45	125	45	1	10	57	0.158249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0009	0.0006	6.599e-05	0.0042	0.0004	0.0004	0.0031	0.0027	0.0003	0.0005	0.0028	0.0042	0.0009	0.0014	0.0003	0.0010	0.0004	0.0044	0.0088	0.0058	0	0.0074	0.0039	0.0038	0.0043	0.0039	0.0053	0.0028	0.0055	0.0040	0.0074	0.0053	0.0227	0.0036	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4493.37	298	chrX	6533823	.	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	C,TTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT,*	4493.37	.	AC=1,6,1;AF=0.050,0.300,0.050;AN=20;BaseQRankSum=0.473;DP=4867;ExcessHet=4.6500;FS=6.509;InbreedingCoeff=-0.3114;MLEAC=2,9,2;MLEAF=0.100,0.450,0.100;MQ=47.84;MQRankSum=1.25;QD=4.70;ReadPosRankSum=2.24;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:177,0,0,45:222:99:.:.:1868,2218,8560,2218,8560,8560,0,5410,5410,4955	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	0/3:177,0,0,45:222:99:.:.:1868,2218,8560,2218,8560,8560,0,5410,5410,4955	2	0	1	11
chrX	6533828	6533828	C	0	exonic	VCX3A	.	.	.	.	.	589	631	262	5	35	307	0.177314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	1960.98	281	chrX	6533828	.	C	T,*	1960.98	.	AC=2,2;AF=0.077,0.077;AN=26;BaseQRankSum=-4.230e-01;DP=4752;ExcessHet=0.8560;FS=1.716;InbreedingCoeff=0.0215;MLEAC=3,3;MLEAF=0.115,0.115;MQ=46.81;MQRankSum=-6.630e-01;QD=2.78;ReadPosRankSum=-1.398e+00;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:177,0,45:222:99:.:.:1868,2218,8560,0,5410,4955	9	0	2	8
chrX	6533831	6533831	C	0	exonic	VCX3A	.	.	.	.	.	520	916	66	3	17	89	0.0378151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	721.15	177	chrX	6533831	.	C	G,*	721.15	.	AC=1,3;AF=0.031,0.094;AN=32;BaseQRankSum=-2.512e+00;DP=3673;ExcessHet=0.6776;FS=4.344;InbreedingCoeff=-0.1831;MLEAC=1,4;MLEAF=0.031,0.125;MQ=39.27;MQRankSum=2.06;QD=2.63;ReadPosRankSum=2.74;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:177,0,45:222:99:.:.:1868,2218,8560,0,5410,4955	12	0	1	5
chrX	7843933	7843933	A	0	exonic	VCX	.	.	.	.	.	462	969	41	24	26	115	0.0439073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	2446.35	418	chrX	7843933	.	A	G,*	2446.35	.	AC=2,2;AF=0.063,0.063;AN=32;BaseQRankSum=4.80;DP=4453;ExcessHet=0.7148;FS=15.808;InbreedingCoeff=-0.0857;MLEAC=2,2;MLEAF=0.063,0.063;MQ=44.62;MQRankSum=-5.000e-03;QD=2.95;ReadPosRankSum=-4.069e+00;SOR=1.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:179,0,14:193:54:.:.:54,642,8467,0,7323,7281	12	0	2	5
chrX	7843938	7843938	A	0	exonic	VCX	.	.	.	.	.	446	1000	38	24	14	100	0.0412272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1098.86	416	chrX	7843938	.	A	G,*	1098.86	.	AC=1,2;AF=0.026,0.053;AN=38;BaseQRankSum=1.73;DP=4502;ExcessHet=0.3300;FS=24.150;InbreedingCoeff=-0.1053;MLEAC=1,2;MLEAF=0.026,0.053;MQ=40.47;MQRankSum=0.780;QD=2.13;ReadPosRankSum=-2.742e+00;SOR=2.256	GT:AD:DP:GQ:PL	0/2:179,0,14:193:54:54,642,8467,0,7323,7281	16	0	1	2
chrX	7843963	7843963	G	A	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.G568A:p.V190M,	.	.	437	977	32	24	52	132	0.0393314	.	.	2823790	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.96	D	0.35	B	.	.	1.000	N	-0.895	N	1.95	T	-0.975	T	0.015	T	0.15	-0.236	2.861	.	-2.086	-0.450	5.945	0.114	.	.	0.00397351	0.0023	0.0005	0.0015	0	0.0064	0.0024	0.0034	0.0033	0.0033311	515	154602	rs201876650	0.0058	0.0087	0.0070	0.0034	0.0127	0.0057	0.0056	0.0090	0.0078	0.0004	0.0027	0.0047	4.041e-05	0.0127	0.0127	0.0060	0.0058	0.0058	0.0042	0.0065	0.0052	0.0001	0.0066	0.0038	0.0037	0.0059	0.0056	0.0006	0	0.0016	0.0077	0	0.0070	0	0.0066	0.0033	0.0061	0.138	0.25873	T	0.106	0.37872	T	0.96	0.55278	D	0.35	0.42815	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	1.95	0.22474	T	-0.73	0.25986	N	0.067	0.03956	-0.9754	0.36037	T	0.015	0.06090	T	8	0.0065913796	0.00149	T	.	.	.	0.114	0.32008	.	.	0.043077524339	0.03247	0.0032430097609367696	0.00302	0.354020575304	0.37190	0.454822123051	0.32603	T	0.011581	0.10309	T	-0.720018	0.00028	T	-0.892538	0.00557	T	0.00885473886292793	0.00110	T	0.460954	0.13351	T	0.105991945	0.25061	0.08594243	0.19877	0.105991945	0.25061	0.08594243	0.19877	-6.074	0.46894	T	.	.	0.125	0.26514	B	.;.	.;.	1.214405	0.16076	12.30	0.56313972898184261	0.05526	0.00026	0.00253	N	AEFI	.	.	.	.	.	.	.	.	.	2.63253077637493E-4	0.06244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.318000	0.02813	-3.812000	0.02521	-2.279000	0.00328	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.6784:0.3216:0.0	5.945	0.18451	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1111	1857.61	416	chrX	7843963	.	G	A,*	1857.61	.	AC=2,2;AF=0.056,0.056;AN=36;BaseQRankSum=1.90;DP=4808;ExcessHet=0.6776;FS=3.155;InbreedingCoeff=-0.1507;MLEAC=2,2;MLEAF=0.056,0.056;MQ=46.15;MQRankSum=1.89;QD=1.91;ReadPosRankSum=-2.610e+00;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:179,0,14:193:54:.:.:54,642,8467,0,7323,7281	14	0	2	3
chrX	7843963	7843963	G	0	exonic	VCX	.	.	.	.	.	437	977	32	24	52	132	0.0393314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	1857.61	416	chrX	7843963	.	G	A,*	1857.61	.	AC=2,2;AF=0.056,0.056;AN=36;BaseQRankSum=1.90;DP=4808;ExcessHet=0.6776;FS=3.155;InbreedingCoeff=-0.1507;MLEAC=2,2;MLEAF=0.056,0.056;MQ=46.15;MQRankSum=1.89;QD=1.91;ReadPosRankSum=-2.610e+00;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:179,0,14:193:54:.:.:54,642,8467,0,7323,7281	14	0	2	3
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:1,129,120,0:250:99:.:.:8636,1501,794,4127,0,5241,7299,1524,5042,7723	0	8	6	4
chrX	7843976	7843976	-	AGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.581_582insAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT:p.S195Gfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0.0002	0	0	0	0	0	0	.	.	.	.	3.738e-06	8.672e-06	5.615e-06	0	6.53e-05	6.2e-07	2.3e-07	.	.	0	6.53e-05	0	0	0	0	2.552e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:1,129,120,0:250:99:.:.:8636,1501,794,4127,0,5241,7299,1524,5042,7723	0	8	6	4
chrX	8465953	8465953	T	C	exonic	VCX3B	.	nonsynonymous SNV	VCX3B:NM_001001888:exon3:c.T311C:p.L104P,	.	.	583	926	13	0	0	13	0.00697051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.914	D	.	.	0.916	N	0.975	L	1.34	T	-0.999	T	0.117	T	0.201	0.784	8.133	0.654	0.494	-0.180	.	0.033	.	.	0.0148344	0.0091	0.02	0	0.0101	0.0024	0.0054	0.0183	0.0597	0.0004075	63	154602	rs757924718	0.0021	0.0041	0.0029	0.0005	0.0163	0.0021	0.0020	0.0150	0.0144	0.0100	0.0012	0.0005	0.0163	0.0012	0.0039	0.0011	0.0027	0.0097	0.0064	0.0084	0.0078	7.195e-05	0.0326	0.0059	0.0057	0.0259	0.0234	0.0128	0	0.0021	0.0010	0.0326	0.0014	0.0184	0.0030	0.0010	0.0193	0.077	0.34095	T	0.028	0.92824	D	0.995	0.67487	D	0.914	0.64984	D	.	.	.	.	0.999672	0.27400	N	2.215	0.62545	M	1.34	0.34841	T	-3.12	0.67705	D	0.077	0.31478	-0.9992	0.30143	T	0.117	0.41253	T	8	0.0037917495	0.00071	T	.	.	.	0.033	0.08068	.	.	0.0716867268079	0.06686	0.01163524341529036	0.01123	1.41972277544	0.85595	0.461865663528	0.33567	T	0.020686	0.16245	T	-0.669382	0.00055	T	-0.72391	0.04609	T	0.0342637401029684	0.02682	T	0.387861	0.15733	T	0.5320773	0.68949	0.47997195	0.69881	0.5320773	0.68950	0.47997195	0.69881	-4.74	0.33884	T	.	.	0.152	0.44227	B	.;.;.	.;.;.	1.555792	0.19936	14.51	0.48072168084454964	0.03982	0.01121	0.04088	N	AEFI	.	.	.	.	.	.	.	.	.	1.37016822449587E-4	0.05486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.654	0.17006	0.189000	0.16845	-1.360000	0.05625	0.304000	0.19002	0.017000	0.19353	0.000000	0.08366	0.009000	0.08673	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	409.43	46	chrX	8465953	.	T	C	409.43	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.629e+00;DP=601;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0423;MLEAC=1;MLEAF=0.025;MQ=34.90;MQRankSum=1.67;QD=10.24;ReadPosRankSum=2.03;SOR=0.754	GT:AD:DP:GQ:PL	0/1:25,15:40:99:423,0,798	19	0	1	1
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	0/1:123,36,3:162:99:.:.:612,0,4267,346,4351,4678	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	0/1:123,36,3:162:99:.:.:612,0,4267,346,4351,4678	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|1:127,43:170:99:0|1:10469690_T_C:633,0,4349:10469690	8	0	11	2
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2167.81	117	chrX	10469693	.	T	C	2167.81	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.149e+00;DP=2021;ExcessHet=4.7172;FS=131.479;InbreedingCoeff=-0.2861;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.93;ReadPosRankSum=0.361;SOR=11.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,43:167:99:0|1:10469690_T_C:641,0,4302:10469690	12	0	9	0
chrX	24364259	24364259	-	TGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGC:p.A543_P544insA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/4:16,0,0,0,15,0,0:31:99:448,742,2652,742,2652,2652,742,2652,2652,2652,0,918,918,918,688,742,2652,2652,2652,918,2652,742,2652,2652,2652,918,2652,2652	8	0	1	0
chrX	24364259	24364259	-	TGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGC:p.A543_P544insAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/4:16,0,0,0,15,0,0:31:99:448,742,2652,742,2652,2652,742,2652,2652,2652,0,918,918,918,688,742,2652,2652,2652,918,2652,742,2652,2652,2652,918,2652,2652	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGC:p.A543_P544insAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/4:16,0,0,0,15,0,0:31:99:448,742,2652,742,2652,2652,742,2652,2652,2652,0,918,918,918,688,742,2652,2652,2652,918,2652,742,2652,2652,2652,918,2652,2652	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGC:p.A543_P544insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/4:16,0,0,0,15,0,0:31:99:448,742,2652,742,2652,2652,742,2652,2652,2652,0,918,918,918,688,742,2652,2652,2652,918,2652,742,2652,2652,2652,918,2652,2652	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGCTGC:p.A543_P544insAAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/4:16,0,0,0,15,0,0:31:99:448,742,2652,742,2652,2652,742,2652,2652,2652,0,918,918,918,688,742,2652,2652,2652,918,2652,742,2652,2652,2652,918,2652,2652	8	0	1	0
chrX	24364309	24364312	GCTC	0	exonic	SUPT20HL1	.	.	.	.	.	367	1045	21	4	85	114	0.0136857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	232.24	99	chrX	24364309	.	GCTC	G,*	232.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.78;DP=1692;ExcessHet=0.3300;FS=2.678;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=59.50;MQRankSum=0.00;QD=1.29;ReadPosRankSum=4.11;SOR=0.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:32,0,13:45:99:0|1:24364308_TG_T:331,652,3106,0,1470,1245:24364308	18	0	2	0
chrX	24364310	24364336	CTCCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	.	0	189	21	5	11	42	0.0757946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	302.11	99	chrX	24364310	.	CTCCTGCTCCTGCTCTAGCTGCTGCTG	*,C	302.11	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.399e+00;DP=1670;ExcessHet=0.3300;FS=3.618;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=1.64;ReadPosRankSum=1.75;SOR=0.430	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:34,2,13:49:99:0|1:24364308_TG_T:316,567,4486,0,1549,1447:24364308	18	0	2	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1192.61	92	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	C,*	1192.61	.	AC=2,3;AF=0.067,0.100;AN=30;DP=1677;ExcessHet=0.0454;FS=0.000;InbreedingCoeff=0.1390;MLEAC=3,4;MLEAF=0.100,0.133;MQ=59.73;MQRankSum=0.00;QD=7.18;ReadPosRankSum=1.61;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:34,0,15:49:99:1|0:24364308_TG_T:1293,738,4587,0,1560,1304:24364308	11	1	0	6
chrX	24364318	24364336	CCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	.	394	1076	19	5	28	57	0.0132967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	577.6	63	chrX	24364318	.	CCTGCTCTAGCTGCTGCTG	*,GCTGCTCTAGCTGCTGCTG,C	577.6	.	AC=3,1,1;AF=0.083,0.028,0.028;AN=36;BaseQRankSum=2.10;DP=1497;ExcessHet=0.0454;FS=0.609;InbreedingCoeff=0.2571;MLEAC=3,1,1;MLEAF=0.083,0.028,0.028;MQ=59.49;MQRankSum=0.00;QD=3.68;ReadPosRankSum=3.24;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,15,0,0:49:99:1|0:24364308_TG_T:1293,0,1304,1204,1616,3701,1204,1616,3701,3701:24364308	14	1	1	3
chrX	24364318	24364318	C	G	exonic	SUPT20HL1	.	nonsynonymous SNV	SUPT20HL1:NM_001136234:exon1:c.C1636G:p.P546A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0020	0.0043	0	0.0192	0.0019	0	0.0008	3.84e-05	1	26028	rs768988575	0.0047	0.0046	0.0067	2.072e-05	0.0056	0.0046	0.0045	0.0055	0.0054	0.0023	0.0002	0.0006	0.0011	0.0002	0.0011	0.0056	0.0040	0.0035	2.646e-05	0.0003	3.634e-05	0	6.576e-05	4.39e-06	1.64e-06	.	.	6.576e-05	0	0	0	0	0	0	2.442e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1389	577.6	63	chrX	24364318	.	CCTGCTCTAGCTGCTGCTG	*,GCTGCTCTAGCTGCTGCTG,C	577.6	.	AC=3,1,1;AF=0.083,0.028,0.028;AN=36;BaseQRankSum=2.10;DP=1497;ExcessHet=0.0454;FS=0.609;InbreedingCoeff=0.2571;MLEAC=3,1,1;MLEAF=0.083,0.028,0.028;MQ=59.49;MQRankSum=0.00;QD=3.68;ReadPosRankSum=3.24;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,15,0,0:49:99:1|0:24364308_TG_T:1293,0,1304,1204,1616,3701,1204,1616,3701,3701:24364308	14	1	1	3
chrX	24364323	24364326	TCTA	0	exonic	SUPT20HL1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	236.33	63	chrX	24364323	.	TCTA	*,T	236.33	.	AC=4,1;AF=0.105,0.026;AN=38;BaseQRankSum=1.53;DP=1488;ExcessHet=0.0454;FS=0.604;InbreedingCoeff=0.3023;MLEAC=4,1;MLEAF=0.105,0.026;MQ=59.05;MQRankSum=-5.358e+00;QD=1.50;ReadPosRankSum=2.58;SOR=0.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,15,0:49:99:1|0:24364308_TG_T:1293,0,1304,1204,1616,3701:24364308	15	1	2	2
chrX	24364324	24364326	CTA	-	exonic	SUPT20HL1	.	nonframeshift deletion	SUPT20HL1:NM_001136234:exon1:c.1642_1644del:p.L548del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0122	.	.	.	.	.	.	.	.	.	.	.	.	rs1181749854	7.466e-06	3.364e-05	8.519e-06	4.995e-06	9.671e-06	2.19e-06	1.59e-06	2.83e-06	2.06e-06	0	0	0	0	0	0	9.671e-06	0	0	4.925e-05	0.0002	5.171e-05	4.309e-05	0.0001	1.65e-05	9.75e-06	7.6e-06	2.84e-06	6.052e-05	0	0.0001	0	0	0	0	4.586e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	236.33	63	chrX	24364323	.	TCTA	*,T	236.33	.	AC=4,1;AF=0.105,0.026;AN=38;BaseQRankSum=1.53;DP=1488;ExcessHet=0.0454;FS=0.604;InbreedingCoeff=0.3023;MLEAC=4,1;MLEAF=0.105,0.026;MQ=59.05;MQRankSum=-5.358e+00;QD=1.50;ReadPosRankSum=2.58;SOR=0.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,15,0:49:99:1|0:24364308_TG_T:1293,0,1304,1204,1616,3701:24364308	15	1	2	2
chrX	24364336	24364336	G	0	exonic	SUPT20HL1	.	.	.	.	.	397	1074	7	2	42	53	0.00509495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	620.36	63	chrX	24364336	.	G	*,C	620.36	.	AC=4,1;AF=0.105,0.026;AN=38;BaseQRankSum=-2.180e+00;DP=1411;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.2222;MLEAC=4,1;MLEAF=0.105,0.026;MQ=59.45;MQRankSum=0.00;QD=3.74;ReadPosRankSum=3.60;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,15,0:49:99:1|0:24364308_TG_T:1293,0,1304,1204,1616,3701:24364308	15	1	2	2
chrX	27747292	27747300	GAGGAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.397_405del:p.E145_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/5:0,20,0,0,0,17,0:37:99:1506,690,811,1527,791,1609,1527,791,1609,1609,1527,791,1609,1609,1609,821,0,838,838,838,769,1527,791,1609,1609,1609,838,1609	7	4	1	0
chrX	27747295	27747300	GAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.400_405del:p.E146_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/5:0,20,0,0,0,17,0:37:99:1506,690,811,1527,791,1609,1527,791,1609,1609,1527,791,1609,1609,1609,821,0,838,838,838,769,1527,791,1609,1609,1609,838,1609	7	4	1	0
chrX	27747298	27747300	GAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.403_405del:p.E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/5:0,20,0,0,0,17,0:37:99:1506,690,811,1527,791,1609,1527,791,1609,1609,1527,791,1609,1609,1609,821,0,838,838,838,769,1527,791,1609,1609,1609,838,1609	7	4	1	0
chrX	27747300	27747300	-	GAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAG:p.E147_Q148insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/5:0,20,0,0,0,17,0:37:99:1506,690,811,1527,791,1609,1527,791,1609,1609,1527,791,1609,1609,1609,821,0,838,838,838,769,1527,791,1609,1609,1609,838,1609	7	4	1	0
chrX	27747300	27747300	-	GAGGAGGAGGAGGAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAGGAGGAGGAGGAG:p.E147_Q148insEEEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/5:0,20,0,0,0,17,0:37:99:1506,690,811,1527,791,1609,1527,791,1609,1609,1527,791,1609,1609,1609,821,0,838,838,838,769,1527,791,1609,1609,1609,838,1609	7	4	1	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.081	B	0.006	B	0.033	N	0.592	D	0.975	L	2.36	T	-1.075	T	0.033	T	0.372	3.606	18.35	4.5	1.032	4.104	10.422	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	316.45	92	chrX	49039321	.	G	A	316.45	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.018e+00;DP=1222;ExcessHet=0.6776;FS=177.302;InbreedingCoeff=-0.1672;MLEAC=5;MLEAF=0.139;MQ=60.00;MQRankSum=0.00;QD=0.84;ReadPosRankSum=-3.700e-02;SOR=10.330	GT:AD:DP:GQ:PL	0/1:70,35:105:99:133,0,957	14	0	4	3
chrX	49591237	49591237	A	T	exonic	GAGE2A;GAGE2B;GAGE2C	.	nonsynonymous SNV	GAGE2B:NM_001098411:exon3:c.A122T:p.E41V	.	.	721	774	27	0	0	27	0.0171429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.997	D	.	.	1.000	N	2.38	M	2.81	T	-1.067	T	0.065	T	0.214	1.796	11.96	-0.325	-0.132	1.987	3.627	0.038	.	.	.	0.0087	0.0014	0.0006	0	0.0233	0.0120	0.0220	0.0122	0.0006531	17	26028	rs200636160	0.0069	0.0088	0.0094	1.011e-05	0.0080	0.0067	0.0066	0.0078	0.0077	0.0005	0.0006	0.0009	0	0.0121	0.0067	0.0080	0.0058	0.0048	0.0046	0.0057	0.0060	0	0.0084	0.0042	0.0041	0.0072	0.0069	0.0004	0.0265	0.0006	0.0005	0	0.0095	0.0055	0.0079	0.0034	0.0084	0.05	0.39575	D	0.006	0.70582	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.74	0.80084	M	2.81	0.10975	T	-3.9	0.72932	D	0.059	0.03069	-1.0666	0.10177	T	0.065	0.26878	T	9	0.0044246614	0.00090	T	.	.	.	0.038	0.09825	.	.	.	.	0.014046565320850092	0.01361	.	.	.	.	.	0.035837	0.23874	T	-0.709744	0.00032	T	-0.786725	0.02256	T	0.0613656344429564	0.07381	T	0.424758	0.11367	T	0.22350249	0.44973	0.12378093	0.29843	0.22350249	0.44973	0.12378093	0.29842	-4.815	0.34766	T	.	.	0.230	0.46285	B	.	.	2.309269	0.29559	18.16	0.98125996659211223	0.38473	0.02861	0.07626	N	AEFI	.	.	.	.	.	.	.	.	.	1.69540920329682E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.06	-0.325	0.12072	0.763000	0.26183	-1.950000	0.04446	-0.583000	0.04693	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.5866:0.4134:0.0:0.0	3.627	0.07658	361	0.84870	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	0.05	1788.35	39	chrX	49591237	.	A	T	1788.35	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-2.460e+00;DP=1588;ExcessHet=0.1128;FS=1.452;InbreedingCoeff=-0.0672;MLEAC=2;MLEAF=0.050;MQ=37.05;MQRankSum=-2.283e+00;QD=2.14;ReadPosRankSum=1.86;SOR=0.784	GT:AD:DP:GQ:PL	0/1:354,80:434:99:923,0,8726	18	0	2	1
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	0/1:105,530:635:99:16437,0,1221	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	0/1:578,75:653:99:370,0,18532	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	0/1:540,84:624:99:1274,0,18736	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	0/1:484,67:551:99:990,0,17529	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	0/1:125,377:502:99:12416,0,2199	0	1	20	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T	.	.	377	953	191	1	0	193	0.0919485	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.393	B	0.677	P	0.039	N	1.000	N	0.6	N	0.95	T	-0.952	T	0.090	T	0.133	0.679	7.632	-0.877	-0.346	-0.374	4.189	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	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	0.119	1891.57	399	chrX	55146226	.	A	G	1891.57	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.994;DP=9340;ExcessHet=1.1607;FS=0.843;InbreedingCoeff=-0.1278;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=-9.600e-02;SOR=0.789	GT:AD:DP:GQ:PL	0/1:393,69:462:99:832,0,13233	16	0	5	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	0/1:326,74:400:99:1151,0,11545	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|1:349,38:387:99:0|1:55146247_G_C:425,0,14418:55146247	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|1:343,36,0:379:99:0|1:55146247_G_C:425,0,14226,1458,14335,15792:55146247	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	0/1:148,215:363:99:6360,0,4095	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|1:335,36:371:99:0|1:55146247_G_C:449,0,13912:55146247	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|1:335,36,0:371:99:0|1:55146247_G_C:449,0,13912,1458,14020,15478:55146247	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|1:335,36,0:371:99:0|1:55146247_G_C:449,0,13912,1458,14020,15478:55146247	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	0/1:100,179:279:99:5862,0,2254	0	1	20	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N	.	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.97	D	0.76	P	0.060	U	1.000	N	1.04	L	0.58	T	-0.992	T	0.137	T	0.108	1.384	10.56	0.279	-0.048	0.205	4.875	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	15609.31	256	chrX	55146283	.	C	T	15609.31	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-6.090e-01;DP=5771;ExcessHet=17.4423;FS=2.201;InbreedingCoeff=-0.6051;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.81;ReadPosRankSum=-1.177e+00;SOR=0.788	GT:AD:DP:GQ:PL	0/1:198,47:245:99:798,0,6972	5	0	15	1
chrX	57594011	57594011	T	A	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.T1963A:p.S655T,	.	.	461	1006	39	16	0	71	0.0340855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.982	D	0.952	D	0.001	D	0.645	D	1.63	L	2.89	T	-1.018	T	0.056	T	0.212	0.219	5.180	3.77	1.520	1.474	9.871	0.068	.	.	0.00476821	0.0102	0.0005	0.0021	0	0.0026	0.0124	0.0074	0.0266	0.000414	64	154602	rs200727091	0.0080	0.0079	0.0076	0.0088	0.0217	0.0078	0.0078	0.0179	0.0175	0.0012	0.0022	0.0024	3.422e-05	0.0024	0.0217	0.0084	0.0071	0.0189	0.0054	0.0055	0.0056	0.0045	0.0154	0.0050	0.0048	0.0110	0.0095	0.0009	0	0.0033	0.0020	0	0.0023	0.0051	0.0087	0.0056	0.0154	0.072	0.34982	T	0.259	0.23097	T	0.982	0.60036	D	0.952	0.69102	D	0.000935	0.41028	D	0.214546	0.645411	0.32914	D	2.69	0.78713	M	2.89	0.10196	T	-1.29	0.32387	N	0.057	0.02861	-1.0177	0.24463	T	0.056	0.23450	T	10	0.003385067	0.00059	T	.	.	.	0.068	0.19811	.	.	0.271610670623	0.26767	0.13645945271760762	0.13569	1.06917988701	0.76748	0.664134502411	0.62000	T	0.015966	0.13288	T	-0.689409	0.00042	T	-0.750091	0.03482	T	0.0196635630188806	0.00669	T	0.638236	0.25169	T	0.16438235	0.36641	0.20183867	0.44182	0.16438235	0.36641	0.20183867	0.44181	-3.943	0.22948	T	.	.	0.070	0.03552	B	.	.	1.238939	0.16346	12.48	0.96316169248732064	0.29397	0.43791	0.27176	N	AEFGI	.	.	.	.	.	.	.	.	.	0.999977116689479	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.77	3.77	0.42499	0.791000	0.26577	0.064000	0.14171	0.605000	0.46263	0.664000	0.28295	0.001000	0.17328	0.330000	0.25202	0.0:0.0:0.0:1.0	9.871	0.40341	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1737.12	54	chrX	57594011	.	T	A	1737.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.724e+00;DP=743;ExcessHet=0.1072;FS=1.636;InbreedingCoeff=-0.0504;MLEAC=2;MLEAF=0.048;MQ=30.21;MQRankSum=0.103;QD=15.94;ReadPosRankSum=1.45;SOR=0.495	GT:AD:DP:GQ:PL	0/1:25,30:55:99:818,0,679	19	0	2	0
chrX	67545334	67545334	-	GCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCA:p.Q80_E81insQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/3:6,0,0,8,0,0,0:14:99:247,265,461,265,461,461,0,195,195,171,265,461,461,195,461,265,461,461,195,461,461,265,461,461,195,461,461,461	5	3	1	1
chrX	67545326	67545334	GCAGCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.180_188del:p.Q78_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/3:6,0,0,8,0,0,0:14:99:247,265,461,265,461,461,0,195,195,171,265,461,461,195,461,265,461,461,195,461,461,265,461,461,195,461,461,461	5	3	1	1
chrX	67545332	67545334	GCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.186_188del:p.Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/3:6,0,0,8,0,0,0:14:99:247,265,461,265,461,461,0,195,195,171,265,461,461,195,461,265,461,461,195,461,461,265,461,461,195,461,461,461	5	3	1	1
chrX	67545329	67545334	GCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.183_188del:p.Q79_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/3:6,0,0,8,0,0,0:14:99:247,265,461,265,461,461,0,195,195,171,265,461,461,195,461,265,461,461,195,461,461,265,461,461,195,461,461,461	5	3	1	1
chrX	67545334	67545334	-	GCAGCAGCAGCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCAGCAGCAGCA:p.Q80_E81insQQQQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/3:6,0,0,8,0,0,0:14:99:247,265,461,265,461,461,0,195,195,171,265,461,461,195,461,265,461,461,195,461,461,265,461,461,195,461,461,461	5	3	1	1
chrX	67546547	67546547	-	GGC	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.1401_1402insGGC:p.G473_E474insG	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:6,0,0,0,0,9,0:15:99:.:.:352,371,624,371,624,624,371,624,624,624,371,624,624,624,624,0,253,253,253,253,226,371,624,624,624,624,253,624	11	3	1	0
chrX	67546536	67546547	GGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1390_1401del:p.G470_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:6,0,0,0,0,9,0:15:99:.:.:352,371,624,371,624,624,371,624,624,624,371,624,624,624,624,0,253,253,253,253,226,371,624,624,624,624,253,624	11	3	1	0
chrX	67546542	67546547	GGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1396_1401del:p.G472_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:6,0,0,0,0,9,0:15:99:.:.:352,371,624,371,624,624,371,624,624,624,371,624,624,624,624,0,253,253,253,253,226,371,624,624,624,624,253,624	11	3	1	0
chrX	67546530	67546547	GGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1384_1401del:p.G468_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:6,0,0,0,0,9,0:15:99:.:.:352,371,624,371,624,624,371,624,624,624,371,624,624,624,624,0,253,253,253,253,226,371,624,624,624,624,253,624	11	3	1	0
chrX	67546547	67546547	-	GGCGGC	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.1401_1402insGGCGGC:p.G473_E474insGG	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:6,0,0,0,0,9,0:15:99:.:.:352,371,624,371,624,624,371,624,624,624,371,624,624,624,624,0,253,253,253,253,226,371,624,624,624,624,253,624	11	3	1	0
chrX	67546515	67546547	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1369_1401del:p.G463_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	1337344	Androgen_resistance_syndrome|Kennedy_disease|AR-related_disorder	MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186626054	0.0006	0.0005	0.0005	0.0007	0.0061	0.0005	0.0005	0.0030	0.0022	0.0025	0.0030	0.0014	0.0004	9.153e-05	0.0061	0.0003	0.0017	0.0010	0.0008	0.0006	0.0007	0.0008	0.0022	0.0006	0.0006	0.0014	0.0011	0.0013	0	0.0022	0.0009	0	0	0	0.0003	0.0009	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:6,0,0,0,0,9,0:15:99:.:.:352,371,624,371,624,624,371,624,624,624,371,624,624,624,624,0,253,253,253,253,226,371,624,624,624,624,253,624	11	3	1	0
chrX	70259192	70259192	G	A	exonic	P2RY4	.	nonsynonymous SNV	P2RY4:NM_002565:exon1:c.C433T:p.R145C,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.883	P	0.534	P	0.007	U	1.000	N	3.16	M	1.06	T	-0.737	T	0.200	T	0.308	2.608	14.68	4.2	2.087	1.853	10.840	0.137	0.0671892039497	.	.	4.615e-05	0	0.0003	0	0	2.104e-05	0	0	3.88e-05	6	154602	rs779083147	1.457e-05	1.457e-05	1.633e-05	1.101e-05	0.0002	8.63e-06	6.98e-06	9.327e-05	6.58e-05	0	0.0002	0	0	2.474e-05	0	8.313e-06	2.169e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.075	0.42794	T	0.883	0.48537	P	0.534	0.48679	P	0.006502	0.31983	U	0.225320	0.999972	0.18612	N	1.95	0.52479	M	1.06	0.39781	T	-2.72	0.57920	D	0.08	0.05542	-0.7369	0.58611	T	0.200	0.55598	T	10	0.22726518	0.39602	T	0.067189	0.70095	D	0.137	0.36984	0.627	0.76254	0.71204735072	0.70952	0.38582829178056804	0.38497	0.125945359065	0.14199	0.44898211956	0.31804	T	0.193902	0.54951	T	-0.449655	0.01134	T	-0.587482	0.13884	T	0.260845759680666	0.23351	T	0.929107	0.73907	D	0.21791165	0.44286	0.21885228	0.46603	0.21791165	0.44286	0.21885228	0.46602	-7.821	0.59844	D	.	.	0.192	0.41156	B	.	.	2.600456	0.33751	19.43	0.99877407120082262	0.95410	0.09284	0.15071	N	AEFBI	.	.	.	.	.	.	.	.	.	0.682183300018903	0.22493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2	4.2	0.48814	1.618000	0.36565	.	.	0.665000	0.62972	0.006000	0.17386	0.004000	0.18990	0.940000	0.48062	0.0:0.0:0.7973:0.2027	10.840	0.45916	49	0.97662	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2634.98	35	chrX	70259192	.	G	A	2634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=916;ExcessHet=0.0000;FS=1.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-3.700e-02;SOR=0.850	GT:AD:DP:GQ:PL	0/1:110,101:211:99:2649,0,2679	20	0	1	0
chrX	72129941	72129941	G	A	exonic	RTL5	.	nonsynonymous SNV	RTL5:NM_001024455:exon1:c.C1600T:p.R534C,	.	.	433	1078	9	2	0	13	0.00599355	.	.	1196403	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.999	D	0.681	P	.	.	1.000	N	0.345	N	2.46	T	-1.055	T	0.034	T	0.455	0.389	6.112	2.99	0.970	0.737	7.799	0.106	0.00205762552757	0.0003	0.000264901	0.0004	0	0	0	0	0.0007	0.0016	0.0001	0.0004075	63	154602	rs201122770	0.0004	0.0004	0.0004	0.0004	0.0085	0.0004	0.0004	0.0063	0.0055	0.0002	0.0001	0	0	2.468e-05	0.0085	0.0004	0.0009	0.0004	0.0003	0.0003	0.0004	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	3.259e-05	0	0.0002	0	0	0	0	0.0005	0.0033	0	.	.	.	0.039	0.51112	D	0.999	0.77913	D	0.681	0.53500	P	.	.	.	.	0.999998	0.08975	N	.	.	.	.	.	.	.	.	.	0.146	0.14763	-1.0553	0.12961	T	0.034	0.14813	T	8	0.04572305	0.03677	T	0.002058	0.03775	T	.	.	.	.	0.104622674875	0.10061	0.10675133778025742	0.10605	.	.	0.481512129307	0.36265	T	0.008167	0.07514	T	-0.343047	0.05179	T	-0.360625	0.37981	T	0.0234708476110938	0.01080	T	0.712229	0.32360	T	0.11841067	0.27899	0.1761174	0.40124	0.11841067	0.27899	0.1761174	0.40123	-7.391	0.56841	T	.	.	0.137	0.29887	B	.	.	2.047866	0.26035	16.97	0.97678823172180584	0.35300	0.13250	0.17750	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999909703249938	0.45458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.87	2.99	0.33673	0.751000	0.26013	5.958000	0.51771	0.676000	0.76740	0.770000	0.29357	1.000000	0.68203	0.026000	0.12556	0.0:0.0:0.7525:0.2475	7.799	0.28328	264	0.89640	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2917.98	34	chrX	72129941	.	G	A	2917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=1370;ExcessHet=0.0000;FS=1.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=0.932;SOR=0.785	GT:AD:DP:GQ:PL	0/1:107,120:227:99:2932,0,2365	20	0	1	0
chrX	75785041	75785041	A	G	exonic	MAGEE2	.	nonsynonymous SNV	MAGEE2:NM_138703:exon1:c.T11C:p.V4A,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.984	D	0.935	D	.	.	0.974	N	0.55	N	3.36	T	-1.002	T	0.024	T	0.351	3.056	16.20	2.86	1.387	2.463	6.717	0.070	0.00709480685192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.878e-07	9.105e-07	1.445e-06	0	3.391e-05	0	0	.	.	0	0	0	3.391e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.026	0.55759	D	0.984	0.60733	D	0.935	0.67021	D	.	.	.	.	0.973689	0.25533	N	1.1	0.28011	L	3.36	0.05918	T	-0.17	0.09627	N	0.315	0.35514	-1.0022	0.29284	T	0.024	0.10194	T	9	0.28062907	0.45639	T	0.007095	0.18786	T	0.070	0.20419	0.401	0.43081	0.566629817802	0.56326	0.426789600324093	0.42595	0.076962351002	0.08643	0.736687958241	0.72486	T	0.004696	0.04103	T	-0.267627	0.12022	T	-0.622204	0.11013	T	0.694611157277904	0.40463	D	0.432757	0.11777	T	0.108274765	0.25600	0.21569638	0.46169	0.108274765	0.25600	0.21569638	0.46168	-2.961	0.09767	T	.	.	0.154	0.33981	B	.	.	3.421312	0.47502	22.5	0.99622183160786404	0.75473	0.55012	0.29758	D	AEFBHCI	.	.	.	.	.	.	.	.	.	0.778642236857883	0.23799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.86	2.86	0.32427	2.471000	0.44786	8.154000	0.76719	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	6.717	0.22496	222	0.91398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	889.98	39	chrX	75785041	.	A	G	889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.060;DP=775;ExcessHet=0.0000;FS=2.046;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-6.700e-01;SOR=1.002	GT:AD:DP:GQ:PL	0/1:45,36:81:99:904,0,1270	20	0	1	0
chrX	76429971	76429971	A	G	exonic	MAGEE1	.	nonsynonymous SNV	MAGEE1:NM_020932:exon1:c.A2041G:p.M681V,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.872	P	0.637	P	.	.	1.000	N	0.55	N	4.13	T	-0.920	T	0.009	T	0.224	-0.481	1.783	1.11	0.198	0.485	3.998	0.077	0.0117351664862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.24564	T	0.147	0.32783	T	0.872	0.47902	P	0.637	0.51992	P	.	.	.	.	1	0.08975	N	0.6	0.15550	N	4.13	0.02865	T	-1.54	0.37375	N	0.199	0.21969	-0.9200	0.45554	T	0.009	0.03096	T	9	0.19013369	0.34644	T	0.011735	0.29644	T	0.077	0.22490	0.308	0.27967	0.123314135267	0.11883	0.3757554135382434	0.37489	0.380110707672	0.39380	0.608645558357	0.54124	T	0.012534	0.11001	T	-0.395587	0.02475	T	-0.80601	0.01757	T	0.160753927982676	0.17927	T	0.473853	0.14122	T	0.16362625	0.36516	0.22304338	0.47170	0.16362625	0.36516	0.22304338	0.47169	-3.59	0.17713	T	.	.	0.167	0.36850	B	.	.	1.813487	0.23047	15.86	0.65384492911815251	0.07757	0.07585	0.13596	N	AEFBI	.	.	.	.	.	.	.	.	.	0.818258183788373	0.24477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.35	1.11	0.19640	0.156000	0.16200	0.421000	0.18220	0.660000	0.55035	0.938000	0.32564	0.000000	0.08366	0.997000	0.79791	0.6769:0.0:0.0:0.3231	3.998	0.09057	203	0.92088	MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1620.98	34	chrX	76429971	.	A	G	1620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.020e-01;DP=868;ExcessHet=0.0000;FS=1.544;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=-1.442e+00;SOR=0.547	GT:AD:DP:GQ:PL	0/1:46,63:109:99:1635,0,1140	20	0	1	0
chrX	86148643	86148643	T	C	exonic	DACH2	.	nonsynonymous SNV	DACH2:NM_001139514:exon1:c.T23C:p.V8A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.75	P	0.554	P	0.056	N	1.000	D	0.55	N	-1.98	D	-0.228	T	0.460	T	0.35	2.000	12.65	4.64	1.713	2.219	13.311	0.280	0.270126585564	9.5e-05	.	6.901e-05	0	0	0	0	0.0001	0	0	3.23e-05	5	154602	rs372249697	1.876e-05	1.912e-05	1.11e-05	3.471e-05	0.0003	1.225e-05	9.96e-06	0.0002	0.0001	0	0	0	0	0	0.0003	3.632e-06	2.231e-05	0.0003	2.703e-05	2.612e-05	3.858e-05	0	5.672e-05	7.18e-06	2.99e-06	1.505e-05	8.17e-06	0	0	0	0	0	0	0	5.672e-05	0	0	0.038	0.52492	D	0.385	0.16037	T	0.75	0.43260	P	0.554	0.49340	P	0.055873	0.22606	N	0.307980	0.869175	0.35530	D	0.695	0.17993	N	-1.99	0.85320	D	0.33	0.04613	N	0.113	0.12627	-0.2283	0.76932	T	0.460	0.79015	T	10	0.18623462	0.34080	T	0.270127	0.89846	D	0.280	0.59740	.	.	0.679697690268	0.67697	0.284635990108321	0.28376	0.39003678143	0.40224	0.768338322639	0.77177	T	0.082294	0.36795	T	-0.206867	0.19824	T	-0.242778	0.50528	T	0.13765742135028	0.16072	T	0.665133	0.27420	T	0.12608854	0.29542	0.17572379	0.40058	0.12608854	0.29541	0.17572379	0.40057	-3.62	0.18861	T	.	.	0.095	0.30130	B	.;.	.;.	2.106240	0.26800	17.24	0.98726427815802931	0.45289	0.78474	0.38721	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.983682901759247	0.30598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.64	4.64	0.57399	2.280000	0.43103	3.220000	0.36848	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.0:1.0	13.311	0.59815	949	0.11373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	398.98	34	chrX	86148643	.	T	C	398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.199;DP=699;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=1.46;SOR=0.567	GT:AD:DP:GQ:PL	0/1:23,18:41:99:413,0,582	20	0	1	0
chrX	91436668	91436668	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G1091A:p.R364H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.942	P	0.401	B	0.000	D	1.000	D	1.27	L	2.32	T	-1.121	T	0.036	T	0.413	0.787	8.148	3.28	1.107	9.240	9.143	0.248	0.0212191272092	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751297464	3.647e-06	4.553e-06	2.724e-06	5.512e-06	1.85e-05	8.5e-07	5.8e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.174e-05	1.85e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.127	0.54159	T	0.942	0.52977	P	0.401	0.44513	B	0.000000	0.84330	D	0.000000	0.999933	0.51612	D	0.525	0.13617	N	2.32	0.16640	T	-3.9	0.74821	D	0.398	0.43899	-1.1212	0.02257	T	0.036	0.15553	T	10	0.50394374	0.61709	D	0.021219	0.43954	T	0.248	0.55615	0.66	0.79791	0.709873008806	0.70733	0.6437247062245874	0.64307	0.80591612175	0.66462	0.670064151287	0.62846	T	0.137415	0.47034	T	-0.18143	0.23522	T	-0.498388	0.22515	T	0.980539083480835	0.73411	D	0.967603	0.88252	D	0.34832907	0.56936	0.2814729	0.54129	0.34832907	0.56936	0.2814729	0.54128	-6.726	0.52006	T	.	.	0.129	0.27732	B	.;.	.;.	3.834041	0.55435	23.6	0.98822642594000976	0.46819	0.97533	0.75370	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997238842572531	0.35404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	3.28	0.36691	7.850000	0.85220	4.526000	0.43706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.112:0.0:0.888:0.0	9.143	0.36078	949	0.11373	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.175	871.64	124	chrX	91436668	.	G	A	871.64	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-3.827e+00;DP=2002;ExcessHet=2.5830;FS=160.143;InbreedingCoeff=-0.2175;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=1.19;SOR=11.189	GT:AD:DP:GQ:PL	0/1:101,38:139:99:187,0,1725	13	0	7	1
chrX	101490261	101490261	G	C	exonic	ARMCX4	.	nonsynonymous SNV	ARMCX4:NM_001256155:exon2:c.G1672C:p.A558P,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.018	T	0.052	T	0.183	0.422	6.290	0.059	0.048	-0.081	2.746	0.020	0.017737179562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6e-07	9.105e-07	0	2.934e-06	1.22e-06	0	0	.	.	0	0	0	0	0	0	1.22e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.8	0.25344	T	.	.	.	0.151	0.15469	-1.0178	0.24431	T	0.052	0.22076	T	4	0.082437515	0.13607	T	0.017737	0.39556	T	0.020	0.03691	.	.	0.18995819373	0.18626	0.19057574849772474	0.18975	.	.	0.26898920536	0.06010	T	.	.	.	-0.440627	0.01283	T	-0.870706	0.00736	T	0.197886496782303	0.20299	T	0.364964	0.08484	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.38941	B	.	.	1.800962	0.22893	15.80	0.84224674782475417	0.15168	0.09727	0.15418	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.782451526878275	0.23868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.48	0.059	0.13644	-0.484000	0.06608	0.596000	0.19873	0.596000	0.33519	0.000000	0.06391	0.005000	0.19230	0.860000	0.40782	0.0994:0.1512:0.438:0.3114	2.746	0.04942	124	0.95048	.	.	.	.	.	.	Uncertain significance	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	1878.98	76	chrX	101490261	.	G	C	1878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.740e+00;DP=1313;ExcessHet=0.0000;FS=3.891;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=0.321;SOR=0.905	GT:AD:DP:GQ:PL	0/1:68,77:145:99:1893,0,1847	20	0	1	0
chrX	102937494	102937494	A	G	exonic	RAB40AL	.	nonsynonymous SNV	RAB40AL:NM_001031834:exon1:c.A176G:p.D59G,	.	.	0	1489	25	8	0	41	0.0135807	.	.	45690	not_provided|Deafness-intellectual_disability,_Martin-Probst_type_syndrome	MedGen:C3661900|MONDO:MONDO:0010353,MeSH:C564495,MedGen:C1845285,OMIM:300519,Orphanet:85321	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	1.69	L	-1.43	T	-0.122	T	0.523	D	0.343	3.940	20.1	0.779	0.560	3.667	5.606	0.545	0.00914952256515	0.0002	0.0015894	0.0048	0.0002	0.0015	0	0.0022	0.0074	0.0079	0.0037	0.0041073	635	154602	rs145606134	0.0057	0.0057	0.0056	0.0059	0.0116	0.0056	0.0055	0.0090	0.0081	0.0009	0.0021	0.0340	0	0.0019	0.0116	0.0058	0.0062	0.0037	0.0041	0.0041	0.0039	0.0044	0.0053	0.0038	0.0037	0.0048	0.0046	0.0006	0.0029	0.0036	0.0348	0	0.0015	0.0046	0.0053	0.0072	0.0027	0.0	0.91255	D	0.159	0.31527	T	1.0	0.90584	D	1.0	0.97372	D	0.000202	0.47681	U	0.000000	0.999725	0.48557	D	1.17	0.29769	L	-1.43	0.80730	T	-5.98	0.89334	D	0.114	0.10198	-0.1217	0.79595	T	0.523	0.82202	D	10	0.013548255	0.00287	T	0.00915	0.24059	T	0.545	0.81077	.	.	0.946209569742	0.94564	0.8151536628486657	0.81471	1.42694036343	0.85735	0.395712047815	0.24472	T	0.393944	0.75322	T	-0.3125	0.07530	T	-0.219049	0.52828	T	0.0529671403931466	0.06013	T	0.970603	0.89432	D	0.86647743	0.88585	0.78075004	0.87075	0.8872234	0.90271	0.78075004	0.87076	-9.044	0.67981	D	.	.	0.170	0.37407	B	.	.	3.214743	0.43774	21.8	0.9970586797448715	0.80936	0.68189	0.33708	D	AEFGI	.	.	.	.	.	.	.	.	.	0.0206921607590511	0.13282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.779	0.779	0.17694	3.121000	0.50131	.	.	0.587000	0.30956	1.000000	0.71638	0.997000	0.33255	0.978000	0.57271	0.9999:0.0:1.0E-4:0.0	5.606	0.16661	144	0.94257	Small GTP-binding protein 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	7129.98	33	chrX	102937494	.	A	G	7129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.185;DP=1159;ExcessHet=0.0000;FS=1.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.05;MQRankSum=-8.480e-01;QD=20.03;ReadPosRankSum=-4.780e-01;SOR=0.800	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,185:356:99:0|1:102937494_A_G:7144,0,6574:102937494	20	0	1	0
chrX	102937495	102937495	C	A	exonic	RAB40AL	.	nonsynonymous SNV	RAB40AL:NM_001031834:exon1:c.C177A:p.D59E,	.	.	0	1489	25	8	0	41	0.0135807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	1.0	D	0.000	U	0.996	D	0.95	L	-1.46	T	-0.417	T	0.431	T	0.117	3.269	16.97	-0.373	-0.179	0.577	5.090	0.407	0.00674651568241	9.5e-05	0.0015894	0.0048	0.0002	0.0015	0	0.0022	0.0073	0.0079	0.0037	0.0041009	634	154602	rs138133927	0.0057	0.0057	0.0056	0.0059	0.0116	0.0056	0.0056	0.0090	0.0081	0.0009	0.0021	0.0340	0	0.0019	0.0116	0.0058	0.0062	0.0037	0.0041	0.0041	0.0039	0.0044	0.0052	0.0038	0.0036	0.0047	0.0045	0.0006	0.0029	0.0036	0.0348	0	0.0015	0.0046	0.0052	0.0072	0.0027	0.186	0.21467	T	0.223	0.25670	T	1.0	0.90584	D	1.0	0.97372	D	0.000202	0.47681	U	0.000000	0.995827	0.42875	D	0.8	0.19659	N	-1.46	0.80983	T	-2.59	0.55821	D	0.079	0.05414	-0.4167	0.71497	T	0.431	0.77303	T	10	0.012709081	0.00272	T	0.006747	0.17840	T	0.407	0.71946	0.579	0.70476	0.837426278938	0.83587	0.644573263597182	0.64392	0.618518087764	0.56239	0.414517879486	0.27081	T	0.374216	0.73806	T	-0.550421	0.00290	T	-0.560806	0.16301	T	0.0864815356212415	0.10795	T	0.89531	0.63576	D	0.29524654	0.52475	0.22132494	0.46939	0.34425616	0.56615	0.22132494	0.46938	-7.072	0.54558	T	.	.	0.280	0.51271	B	.	.	2.272102	0.29044	18.00	0.99452021776926569	0.65325	0.51442	0.28896	D	AEFGI	.	.	.	.	.	.	.	.	.	0.0141870613087505	0.12564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.779	-0.373	0.11893	-0.262000	0.08706	.	.	-0.315000	0.05944	0.974000	0.34632	0.150000	0.23170	0.977000	0.56843	0.0:0.7394:0.0:0.2606	5.090	0.14040	144	0.94257	Small GTP-binding protein 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	7129.98	33	chrX	102937495	.	C	A	7129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=1158;ExcessHet=0.0000;FS=1.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.94;MQRankSum=-8.480e-01;QD=20.03;ReadPosRankSum=-4.340e-01;SOR=0.800	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,185:356:99:0|1:102937494_A_G:7144,0,6574:102937494	20	0	1	0
chrX	105953052	105953052	G	A	exonic	NRK	.	nonsynonymous SNV	NRK:NM_198465:exon28:c.G4532A:p.R1511Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.978	D	0.665	P	0.003	N	1.000	N	-0.3	N	3.59	T	-0.971	T	0.008	T	0.245	0.533	6.885	4.92	2.487	3.627	3.678	0.141	0.100376736559	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310620401	9.333e-06	1.366e-05	9.605e-06	8.754e-06	7.712e-05	4.72e-06	3.44e-06	1.276e-05	4.77e-06	7.712e-05	0	0	0	0	0	4.85e-06	8.927e-05	0	8.936e-06	8.715e-06	1.286e-05	0	1.879e-05	0	0	.	.	0	0	0	0	0	0	0	1.879e-05	0	0	0.607	0.05517	T	1.0	0.24054	T	0.978	0.58756	D	0.665	0.52961	P	0.003268	0.35183	N	0.000000	0.963676	0.30849	N	0.22	0.09567	N	3.59	0.04544	T	1.29	0.01197	N	0.192	0.24510	-0.9712	0.36946	T	0.008	0.02801	T	10	0.17936581	0.33067	T	0.100377	0.77262	D	0.141	0.37795	0.671	0.80903	0.544616563029	0.54116	0.160381047828648	0.15959	.	.	0.340765118599	0.16553	T	0.069542	0.33736	T	-0.349545	0.04756	T	-0.739874	0.03896	T	0.19898120481026	0.20360	T	0.874313	0.58483	D	0.08465641	0.19604	0.06595036	0.13441	0.08465641	0.19604	0.06595036	0.13441	-3.059	0.10831	T	.	.	0.175	0.38227	B	.;.	.;.	3.529247	0.49512	22.8	0.36473162965347944	0.02348	0.80943	0.40455	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0390535489101785	0.14376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.88	4.92	0.64147	4.684000	0.61374	6.479000	0.55733	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.3465:0.0:0.6535:0.0	3.678	0.07834	38	0.97995	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) domain;Citron homology (CNH) 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	1176.98	35	chrX	105953052	.	G	A	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-2.140e+00;SOR=0.673	GT:AD:DP:GQ:PL	0/1:51,48:99:99:1191,0,1095	20	0	1	0
chrX	106821996	106821996	G	A	exonic	TBC1D8B	.	nonsynonymous SNV	TBC1D8B:NM_017752:exon4:c.G380A:p.G127E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.028	B	0.025	B	0.000	D	1.000	D	0.315	N	3.25	T	-1.070	T	0.026	T	0.543	0.977	8.988	5.61	2.349	4.040	10.724	0.093	0.172439048508	.	.	1.173e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs747341691	9.121e-07	9.106e-07	0	2.76e-06	1.854e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.854e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.988	0.07048	T	1.0	0.01155	T	0.019	0.19712	B	0.025	0.20508	B	0.000046	0.53742	D	0.125363	0.999984	0.54805	D	0.69	0.16971	N	3.25	0.20255	T	-0.93	0.30762	N	0.176	0.25867	-1.0703	0.09348	T	0.026	0.11176	T	10	0.13226977	0.25175	T	0.172439	0.84942	D	0.093	0.26882	0.441	0.49648	0.220303561663	0.21668	0.5093646614819456	0.50858	0.104447900269	0.11818	0.754188656807	0.75065	T	0.030408	0.21564	T	-0.317853	0.07074	T	-0.537984	0.18495	T	0.183996594666775	0.19484	T	0.838216	0.51127	T	0.23744212	0.46608	0.30672336	0.56696	0.23744212	0.46608	0.30672336	0.56695	-5.17	0.39396	T	.	.	0.242	0.47676	B	.;.;.;.	.;.;.;.	3.631534	0.51449	23.1	0.82348952576753343	0.14146	0.94991	0.63042	D	AEFGI	.	.	.	.	.	.	.	.	.	0.998166884696514	0.36515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.61	5.61	0.85347	4.135000	0.57758	6.414000	0.55601	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0897:0.0:0.9103:0.0	10.724	0.45253	341	0.85936	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	831.98	35	chrX	106821996	.	G	A	831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=704;ExcessHet=0.0000;FS=1.172;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.64;ReadPosRankSum=0.505;SOR=0.948	GT:AD:DP:GQ:PL	0/1:20,30:50:99:846,0,468	20	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.741	P	0.621	P	0.000	D	0.998	D	2.095	M	1.12	T	-0.845	T	0.185	T	0.728	2.907	15.69	4.88	2.356	4.577	16.741	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	903.93	74	chrX	135580144	.	G	C	903.93	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.040e+00;DP=1536;ExcessHet=20.9642;FS=227.873;InbreedingCoeff=-0.6099;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.503;SOR=12.634	GT:AD:DP:GQ:PL	0/1:52,26:89:41:41,0,691	5	0	16	0
chrX	136875533	136875533	C	T	exonic	RBMX	.	nonsynonymous SNV	RBMX:NM_001164803:exon4:c.G269A:p.R90H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.892	P	0.032	B	.	.	1.000	D	.	.	3.06	T	-0.778	T	0.006	T	.	1.176	9.782	0.479	0.020	-0.230	4.178	0.135	0.0276807064717	0.0017	0.0013245	0.0006	0.0037	0.0003	0	0	0.0003	0.0016	9.894e-05	0.000414	64	154602	rs146041009	0.0003	0.0003	0.0003	0.0003	0.0033	0.0002	0.0002	0.0027	0.0025	0.0033	0.0004	0.0027	0	0	0.0022	9.975e-05	0.0007	1.848e-05	0.0011	0.0011	0.0011	0.0010	0.0028	0.0010	0.0009	0.0023	0.0021	0.0028	0	0.0023	0.0030	0	0	0.0046	7.521e-05	0.0013	0	0.001	0.78490	D	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.06	0.08634	T	-2.02	0.46503	N	0.153	0.15749	-0.7781	0.56409	T	0.006	0.02168	T	7	0.003775984	0.00070	T	0.027681	0.50460	D	0.135	0.36572	.	.	0.284112513307	0.28011	.	.	.	.	.	.	.	.	.	.	-0.273503	0.11369	T	-0.630644	0.10366	T	0.00834481131533364	0.00101	T	0.417158	0.10968	T	.	.	.	.	.	.	.	.	-2.444	0.05410	T	.	.	0.064	0.01762	B	.	.	0.365468	0.07381	4.003	0.9684539224068176	0.31320	0.39335	0.26190	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999594460471771	0.40745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6	0.479	0.16007	-0.351000	0.07760	-0.241000	0.10591	-1.953000	0.00482	0.137000	0.23458	0.000000	0.08366	0.363000	0.25954	0.0763:0.3698:0.1895:0.3644	4.178	0.09821	681	0.59854	.	.	.	.	.	.	Uncertain significance	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	709.98	34	chrX	136875533	.	C	T	709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=703;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-7.830e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/1:27,28:55:99:724,0,658	20	0	1	0
chrX	141002698	141002698	G	A	exonic	SPANXB1	.	nonsynonymous SNV	SPANXB1:NM_032461:exon1:c.G5A:p.G2D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.92	N	3.42	T	-0.980	T	0.004	T	0.171	-2.798	0	.	-2.175	-1.836	.	0.036	0.174944969968	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489607447	3.644e-06	4.644e-05	4.085e-06	2.752e-06	3.314e-05	8.5e-07	5.8e-07	.	.	0	2.841e-05	0	3.314e-05	0	0	1.188e-06	2.173e-05	0	3.501e-05	8.693e-05	5.138e-05	0	9.447e-05	1.118e-05	6.51e-06	2.503e-05	1.293e-05	9.447e-05	0	0	0	0	0	0	1.867e-05	0	0	1.0	0.00964	T	0.83	0.03717	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.42	0.05507	T	3.49	0.00088	N	0.129	0.12341	-0.9803	0.34932	T	0.004	0.01365	T	7	0.101397336	0.18524	T	0.956671	0.99710	D	0.048	0.13305	0.368	0.37687	0.0762999501168	0.06990	0.0013652190435889872	0.00126	.	.	.	.	.	0.001901	0.01317	T	-0.516307	0.00462	T	-0.979416	0.00183	T	0.017921037392752	0.00518	T	0.210779	0.02549	T	0.29532337	0.52483	0.49253887	0.70646	0.29532337	0.52482	0.49253887	0.70647	-3.082	0.11090	T	.	.	0.065	0.01859	B	.	.	-0.813678	0.01081	0.048	0.10498859933170923	0.00134	0.00130	0.00805	N	AEFGI	.	.	.	.	.	.	.	.	.	1.57588558597822E-4	0.05650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.839000	0.01779	-1.303000	0.05769	-1.688000	0.00776	0.423000	0.26353	0.000000	0.08366	0.001000	0.02609	.	.	.	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	0.02381	664.98	76	chrX	141002698	.	G	A	664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.460e-01;DP=1805;ExcessHet=0.0000;FS=0.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.80;ReadPosRankSum=0.855;SOR=0.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,40:369:99:0|1:141002698_G_A:679,0,13532:141002698	20	0	1	0
chrX	141002700	141002700	C	A	exonic	SPANXB1	.	nonsynonymous SNV	SPANXB1:NM_032461:exon1:c.C7A:p.Q3K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.41	N	3.3	T	-0.955	T	0.005	T	0.213	-2.764	0	.	-2.490	-2.406	.	0.043	0.197173342896	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259136219	3.644e-06	4.462e-05	4.085e-06	2.752e-06	3.314e-05	8.5e-07	5.8e-07	.	.	0	2.841e-05	0	3.314e-05	0	0	1.188e-06	2.173e-05	0	3.502e-05	8.694e-05	5.138e-05	0	9.447e-05	1.118e-05	6.51e-06	2.503e-05	1.293e-05	9.447e-05	0	0	0	0	0	0	1.868e-05	0	0	1.0	0.00964	T	0.46	0.12597	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.3	0.06368	T	0.04	0.06488	N	0.108	0.09349	-0.9550	0.40096	T	0.005	0.01651	T	7	0.12508819	0.23766	T	0.952237	0.99675	D	0.045	0.12272	0.331	0.31681	0.165133752707	0.16062	0.002219422540313533	0.00205	.	.	.	.	.	0.002738	0.02136	T	-0.519706	0.00442	T	-0.984298	0.00171	T	0.0147115752779718	0.00306	T	0.207979	0.02486	T	0.37449184	0.58914	0.31594577	0.57578	0.37449184	0.58915	0.31594577	0.57577	-2.352	0.04847	T	.	.	0.080	0.07697	B	.	.	-0.828410	0.01052	0.045	0.23927780063318618	0.01034	0.00199	0.01145	N	AEFGI	.	.	.	.	.	.	.	.	.	3.31293657876148E-4	0.06583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.300000	0.01219	-9.105000	0.00867	-1.852000	0.00570	0.323000	0.25529	0.000000	0.08366	0.001000	0.02609	.	.	.	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	0.02381	664.98	76	chrX	141002700	.	C	A	664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.660e-01;DP=1801;ExcessHet=0.0000;FS=0.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.80;ReadPosRankSum=1.00;SOR=0.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,40:369:99:0|1:141002698_G_A:679,0,13532:141002698	20	0	1	0
chrX	141002778	141002778	A	G	exonic	SPANXB1	.	nonsynonymous SNV	SPANXB1:NM_032461:exon1:c.A85G:p.K29E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.046	B	0.013	B	.	.	1.000	N	0	N	3.2	T	-0.926	T	0.009	T	0.147	-0.705	0.957	.	0.000	0.000	.	0.010	0.490410965177	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413270893	3.015e-05	4.766e-05	2.356e-05	4.414e-05	0.0005	2.181e-05	1.867e-05	0.0003	0.0003	0	2.859e-05	5.27e-05	0	0	0.0005	2.472e-06	2.232e-05	0.0005	9.264e-06	3.623e-05	1.327e-05	0	3.205e-05	0	0	.	.	3.205e-05	0	0	0	0	0	0	0	0	0	0.255	0.16848	T	0.0	0.92824	D	0.046	0.21875	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	0.71	0.02130	N	0.156	0.16168	-0.9264	0.44659	T	0.009	0.03140	T	7	0.153458	0.28965	T	0.810796	0.98525	D	0.010	0.01040	0.376	0.38994	0.17258766438	0.16869	5.155462172028699E-4	0.00047	.	.	.	.	.	6.67E-4	0.00291	T	-0.479234	0.00747	T	-0.926163	0.00349	T	0.0435153923911886	0.04332	T	0.193081	0.02071	T	0.25475404	0.48506	0.36679494	0.62002	0.25475404	0.48506	0.36679494	0.62001	-0.492	0.00579	T	.	.	0.065	0.01986	B	.	.	0.714838	0.10837	7.517	0.50371471360100617	0.04372	0.01882	0.05788	N	AEFGI	.	.	.	.	.	.	.	.	.	4.65814759757675E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.12910	0.000000	0.13247	0.000000	0.17513	0.935000	0.32453	0.000000	0.08366	0.092000	0.17891	.	.	.	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	0.02381	106.98	76	chrX	141002778	.	A	G	106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.393e+00;DP=1741;ExcessHet=0.0000;FS=1.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=0.526;QD=0.35;ReadPosRankSum=0.645;SOR=0.555	GT:AD:DP:GQ:PL	0/1:268,36:304:99:121,0,7466	20	0	1	0
chrX	141241591	141241591	C	T	exonic	SPANXC	.	nonsynonymous SNV	SPANXC:NM_022661:exon2:c.G220A:p.E74K,	.	.	485	1035	2	0	0	2	0.000965251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.002	B	.	.	1.000	N	1.435	L	2.87	T	-1.004	T	0.017	T	0.199	0.034	4.190	.	0.328	0.064	.	0.054	.	0.0028	0.00370861	0.0012	0.0114	0.0004	0.0002	0.0002	0	0	0.0005	0.0006147	16	26028	rs144140529	0.0005	0.0010	0.0006	0.0001	0.0046	0.0004	0.0004	0.0040	0.0037	0.0038	0.0017	0.0004	0.0046	0	0	0.0002	0.0010	0.0004	0.0021	0.0034	0.0025	8.653e-05	0.0126	0.0018	0.0017	0.0081	0.0067	0.0045	0	0.0022	0.0013	0.0126	0	0	0.0002	0.0013	0.0009	0.079	0.33753	T	0.174	0.30045	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	2.87	0.10386	T	-2.96	0.61722	D	0.03	0.00717	-1.0044	0.28636	T	0.017	0.06998	T	7	0.0074335635	0.00169	T	.	.	.	0.054	0.15330	.	.	0.162503812791	0.15892	0.02255201064952654	0.02207	1.80444484246	0.91712	0.552129626274	0.46158	T	0.02339	0.17862	T	-0.803484	0.00007	T	-0.922079	0.00368	T	0.00340634439614215	0.00036	T	0.49935	0.15589	T	0.42769095	0.62601	0.55343646	0.74175	0.42769095	0.62601	0.55343646	0.74176	-2.947	0.09621	T	.	.	0.249	0.48417	B	.	.	1.629340	0.20803	14.92	0.85525766617131993	0.15947	0.00193	0.01117	N	AEFI	.	.	.	.	.	.	.	.	.	1.15699708666578E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.602000	0.05776	.	.	0.203000	0.17936	0.009000	0.18154	0.000000	0.08366	0.005000	0.06747	.	.	.	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1306.98	35	chrX	141241591	.	C	T	1306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.654e+00;DP=987;ExcessHet=0.0000;FS=3.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.96;MQRankSum=3.61;QD=7.64;ReadPosRankSum=-3.467e+00;SOR=0.897	GT:AD:DP:GQ:PL	0/1:101,70:171:99:1321,0,2401	20	0	1	0
chrX	141697582	141697582	A	C	exonic	SPANXD	.	nonsynonymous SNV	SPANXD:NM_032417:exon2:c.T177G:p.F59L,	.	.	448	1073	0	1	0	2	0.000931099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.004	B	.	.	1.000	N	.	.	3.37	T	-0.931	T	0.011	T	0.21	0.494	6.679	.	0.358	0.072	.	0.007	.	.	.	0.1278	0.1912	0.1492	0.0663	0.1286	0.1287	0.1	0.0933	0.122392	18922	154602	rs1059179	0.0003	0.0005	0.0003	0.0005	0.0069	0.0003	0.0003	0.0061	0.0058	0.0013	0.0003	0.0004	0.0069	0	0	4.767e-05	0.0007	0.0006	0.0007	0.0022	0.0010	3.12e-05	0.0058	0.0006	0.0005	0.0038	0.0032	0.0017	0	9.699e-05	0.0004	0.0058	0	0	5.726e-05	0	0.0008	0.099	0.30656	T	0.262	0.22895	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	3.37	0.05847	T	0.1	0.05810	N	0.032	0.00825	-0.9312	0.43963	T	0.011	0.04134	T	6	0.002481401	0.00037	T	.	.	.	0.007	0.00512	0.222	0.14518	.	.	0.002543207102614836	0.00236	6.5508806655E-4	0.00063	.	.	.	0.002088	0.01490	T	-0.864755	0.00002	T	-0.93746	0.00304	T	0.000143023294762927	0.00001	T	0.338066	0.07246	T	0.109959066	0.25994	0.18032092	0.40823	0.109959066	0.25994	0.18032092	0.40823	-2.404	0.05157	T	.	.	0.543	0.66497	A	.	.	0.058166	0.04700	1.338	0.76663715438598801	0.11559	0.00267	0.01455	N	AEI	.	.	.	.	.	.	.	.	.	1.17943017809801E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.488000	0.06578	.	.	-1.340000	0.01205	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	.	.	.	987	0.02648	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	292.98	36	chrX	141697582	.	A	C	292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.98;DP=1299;ExcessHet=0.0000;FS=37.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.72;MQRankSum=-6.472e+00;QD=1.49;ReadPosRankSum=-1.594e+00;SOR=4.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,20:197:99:0|1:141697582_A_C:307,0,7268:141697582	20	0	1	0
chrX	141697584	141697584	A	C	exonic	SPANXD	.	nonsynonymous SNV	SPANXD:NM_032417:exon2:c.T175G:p.F59V,	.	.	448	1073	0	1	0	2	0.000931099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	.	.	1.000	N	.	.	3.46	T	-0.929	T	0.007	T	0.147	-2.675	0	.	-2.341	-2.376	.	0.014	.	.	.	0.1280	0.1911	0.1489	0.0664	0.1287	0.1291	0.0998	0.0935	0.122508	18940	154602	rs1059178	0.0003	0.0005	0.0003	0.0004	0.0069	0.0003	0.0003	0.0062	0.0059	0.0012	0.0002	0.0004	0.0069	0	0	4.767e-05	0.0006	0.0006	0.0007	0.0022	0.0009	3.116e-05	0.0061	0.0005	0.0005	0.0041	0.0034	0.0015	0	9.673e-05	0.0004	0.0061	0	0	5.721e-05	0	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.46	0.05249	T	1.39	0.00846	N	0.04	0.01347	-0.9290	0.44284	T	0.007	0.02518	T	6	0.0030126572	0.00049	T	.	.	.	0.014	0.01968	.	.	.	.	0.0037548928829723997	0.00351	6.18377004847E-4	0.00059	.	.	.	0.001182	0.00684	T	-0.925117	0.00000	T	-1.01479	0.00113	T	0.000251681771553671	0.00002	T	0.279972	0.04873	T	0.06468569	0.13749	0.18236877	0.41160	0.06468569	0.13749	0.18236877	0.41159	-2.648	0.06877	T	.	.	0.049	0.00117	B	.	.	-0.299377	0.02620	0.328	0.12841224857465558	0.00235	0.00017	0.00201	N	AEFI	.	.	.	.	.	.	.	.	.	6.6803492725993E-5	0.04366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.105000	0.01427	.	.	-1.874000	0.00549	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	.	.	.	987	0.02648	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	292.98	36	chrX	141697584	.	A	C	292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.452;DP=1301;ExcessHet=0.0000;FS=37.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.53;MQRankSum=-6.472e+00;QD=1.49;ReadPosRankSum=-1.864e+00;SOR=4.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,20:197:99:0|1:141697582_A_C:307,0,7268:141697582	20	0	1	0
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7105	95143.29	325	chrX	141906385	.	C	G,*	95143.29	.	AC=25,3;AF=0.658,0.079;AN=38;BaseQRankSum=1.37;DP=4666;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6889;MLEAC=27,3;MLEAF=0.711,0.079;MQ=57.01;MQRankSum=-5.940e-01;QD=25.67;ReadPosRankSum=0.391;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,303,0:303:99:1|1:141906385_C_G:10572,908,0,10572,908,10572:141906385	4	11	2	2
chrX	151743683	151743683	C	T	exonic	CNGA2	.	nonsynonymous SNV	CNGA2:NM_005140:exon7:c.C1180T:p.H394Y,	.	.	.	.	.	.	.	.	.	.	.	3429539	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.986	D	0.000	D	0.996	D	1.87	L	-4.07	D	1.041	D	0.913	D	0.634	2.964	15.88	4.96	2.183	7.445	14.865	0.667	0.187654065958	0.0002	.	0.0002	0	0	0	0	0.0004	0	0.0002	0.0001811	28	154602	rs200521778	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0	5.681e-05	0	0	0	0.0002	0.0002	0.0001	0.0003	6.27e-05	6.092e-05	5.14e-05	8.868e-05	0.0004	2.901e-05	2.071e-05	4.841e-05	3.351e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	0.004	0.65419	D	0.004	0.74150	D	0.997	0.70673	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.996441	0.43208	D	1.445	0.36358	L	-4.07	0.96562	D	-2.45	0.53577	N	0.235	0.26475	1.041	0.97925	D	0.913	0.97130	D	10	0.48001093	0.60374	T	0.187654	0.85952	D	0.667	0.87625	.	.	0.799962852074	0.79809	0.8676456651138357	0.86729	0.426352930789	0.43014	0.836189746857	0.87513	D	0.438415	0.78408	T	0.0796878	0.62005	D	0.208754	0.83599	D	0.144749343395233	0.16678	T	0.960254	0.85028	D	0.6571252	0.75745	0.63970804	0.78954	0.6571252	0.75746	0.63970804	0.78955	-8.458	0.64151	D	.	.	0.184	0.39832	B	.	.	4.346217	0.66720	25.0	0.99696143090792833	0.80316	0.96157	0.67794	D	AEFBI	.	.	.	.	.	.	.	.	.	0.995152058102218	0.33979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.96	4.96	0.65153	7.568000	0.81546	7.725000	0.67498	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	14.865	0.70043	758	0.50837	.	.	.	.	.	.	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	2366.98	40	chrX	151743683	.	C	T	2366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.147e+00;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=1.08;SOR=0.667	GT:AD:DP:GQ:PL	0/1:83,88:171:99:2381,0,2231	20	0	1	0
chrX	153073262	153073262	T	G	exonic	PNMA6A	.	nonsynonymous SNV	PNMA6A:NM_032882:exon2:c.T200G:p.V67G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	2.37	T	-1.031	T	0.044	T	0.397	2.490	14.29	1.99	1.077	0.503	5.511	0.025	0.0369201328504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.725e-05	0.0002	5.377e-05	0	8.781e-05	1.997e-05	1.559e-05	2.054e-05	1.391e-05	8.781e-05	8.319e-05	0	0	0	0	4.466e-05	5.765e-05	0	0	3.293e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.33	0.16492	T	-6.52	0.91695	D	0.504	0.53620	-1.0739	0.08577	T	0.085	0.33269	T	8	0.5577507	0.64614	D	0.355273	0.92373	D	0.234	0.53644	0.66	0.79791	0.154104182512	0.14974	0.44074457449472765	0.43991	.	.	0.797610878944	0.81599	T	0.07346	0.34703	T	-0.0376367	0.46298	T	-0.291839	0.45580	T	0.879471444823567	0.52944	D	0.262774	0.04248	T	0.09392669	0.22070	0.15312491	0.35995	0.09392669	0.22070	0.15312491	0.35994	-10.718	0.78089	D	.	.	0.519	0.65421	A	.	.	2.561390	0.33175	19.26	0.9900846234778935	0.50314	0.00385	0.01942	N	AEFI	.	.	.	.	.	.	.	.	.	1.28807437351111E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.14	1.14	0.19817	-0.168000	0.09914	.	.	0.467000	0.21759	0.000000	0.06391	0.041000	0.21590	0.110000	0.18741	0.0:0.0:0.0:1.0	4.200	0.09923	77	0.96778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1154	49.97	6	chrX	153073262	.	T	G	49.97	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-5.570e-01;DP=168;ExcessHet=0.5115;FS=0.000;InbreedingCoeff=-0.1923;MLEAC=4;MLEAF=0.154;MQ=27.00;MQRankSum=0.00;QD=5.00;ReadPosRankSum=0.00;SOR=0.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,1:5:30:0|1:153073262_T_G:30,0,165:153073262	10	0	3	8
chrX	153445355	153445355	C	T	exonic	TREX2	.	nonsynonymous SNV	TREX2:NM_080701:exon2:c.G76A:p.E26K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.986	D	0.555	P	0.037	U	1.000	N	0.2	N	0.96	T	-1.021	T	0.051	T	0.268	-0.384	2.195	3.13	0.902	0.643	4.365	0.101	0.0112890624705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02489	T	1.0	0.01155	T	0.985	0.61118	D	0.475	0.46927	P	0.036979	0.24457	U	0.268985	1	0.08975	N	0.17	0.09006	N	0.96	0.42888	T	0.65	0.02332	N	0.275	0.31478	-1.0214	0.23259	T	0.051	0.21728	T	10	0.06624699	0.09056	T	0.011289	0.28764	T	0.101	0.28911	0.585	0.71245	0.0551355673512	0.04727	0.4331797872171364	0.43234	0.0642824886983	0.07162	0.510533928871	0.40298	T	0.058354	0.30818	T	-0.360928	0.04077	T	-0.756224	0.03249	T	0.248056441545486	0.22786	T	0.762924	0.38892	T	0.17246482	0.37939	0.10459686	0.25124	0.17246482	0.37938	0.10459686	0.25123	.	.	.	.	.	0.190	0.47859	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.882999	0.12561	9.091	0.958450697743082	0.27976	0.08259	0.14211	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.71165621105691	0.22827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.04	3.13	0.35090	-0.023000	0.12403	.	.	0.596000	0.33519	0.000000	0.06391	0.992000	0.31684	0.026000	0.12556	0.0:0.6079:0.1837:0.2084	4.365	0.10653	209	0.91859	.;.;Exonuclease, RNase T/DNA polymerase III;.;.;Exonuclease, RNase T/DNA polymerase III;Exonuclease, RNase T/DNA polymerase III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1430.98	42	chrX	153445355	.	C	T	1430.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=851;ExcessHet=0.0000;FS=0.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=0.502;SOR=0.777	GT:AD:DP:GQ:PL	0/1:74,58:132:99:1445,0,1850	20	0	1	0
chrX	154362534	154362534	G	A	exonic	FLNA	.	nonsynonymous SNV	FLNA:NM_001110556:exon17:c.C2449T:p.P817S	Cardiac valvular dysplasia, X-linked, X-linked recessive;Congenital short bowel syndrome, X-linked recessive;FG syndrome 2;Frontometaphyseal dysplasia 1, X-linked recessive;Heterotopia, periventricular, X-linked dominant;Intestinal pseudoobstruction, neuronal, X-linked recessive;Melnick-Needles syndrome, X-linked dominant;Otopalatodigital syndrome, type I, X-linked dominant;Otopalatodigital syndrome, type II, X-linked dominant;Terminal osseous dysplasia	.	1	1519	2	0	0	2	0.000657895	.	.	191890	Oto-palato-digital_syndrome,_type_II|Frontometaphyseal_dysplasia|Heterotopia,_periventricular,_X-linked_dominant|Melnick-Needles_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided|Disorder_of_sexual_differentiation|Connective_tissue_disorder|FLNA-related_disorder|not_specified	MONDO:MONDO:0010571,MedGen:C1844696,OMIM:304120,Orphanet:669,Orphanet:90652|MONDO:MONDO:0015942,MedGen:C0265293,OMIM:PS305620,Orphanet:1826|MONDO:MONDO:0010233,MedGen:C1848213,OMIM:300049,Orphanet:2149,Orphanet:82004|MONDO:MONDO:0010650,MedGen:C0025237,OMIM:309350,Orphanet:2484|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900|MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771|MONDO:MONDO:0003900,MedGen:C0009782|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.996	D	0.983	D	0.000	N	1.000	D	2.955	M	-0.56	T	-0.016	T	0.519	D	0.253	1.142	9.654	4.26	1.057	3.373	6.054	0.320	0.170743209791	0.0002	.	0.0005	0	0.0001	0	0.0002	0.0008	0	0.0007	0.0005045	78	154602	rs200053635	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0004	0.0007	0.0006	3.788e-05	2.84e-05	0.0002	0	0.0001	0.0010	0.0005	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	0.0018	0.0002	0.0002	0.0007	0.0005	0	0	9.326e-05	0	0	0	0	0.0005	0	0.0018	0.009	0.57480	D	0.024	0.56640	D	0.996	0.68779	D	0.983	0.75793	D	0.000023	0.55875	N	0.069507	0.999266	0.46490	D	2.42	0.70002	M	-0.56	0.71187	T	-4.3	0.76496	D	0.109	0.39760	-0.0163	0.81916	T	0.519	0.82028	D	10	0.0738256	0.11204	T	0.170743	0.84821	D	0.320	0.64215	.	.	0.862928642666	0.86159	0.5124451592651809	0.51166	0.679247475551	0.59926	0.561857461929	0.47530	T	0.777463	0.94095	D	-0.356586	0.04327	T	-0.370492	0.36831	T	0.0884660829645406	0.11033	T	0.957004	0.83719	D	0.2130943	0.43679	0.33343104	0.59180	0.2130943	0.43679	0.33343104	0.59179	-9.267	0.69400	D	0.27806414843201943	0.37291	0.172	0.43186	B	.;.;.;.;.	.;.;.;.;.	3.274559	0.44839	22.0	0.99204873185051512	0.55412	0.71265	0.34939	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999999952404109	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.13	4.26	0.49832	3.460000	0.52793	10.019000	0.83127	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.177000	0.21203	0.0783:0.1303:0.6544:0.137	6.054	0.19026	84	0.96491	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1826.98	39	chrX	154362534	.	G	A	1826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.105;DP=879;ExcessHet=0.0000;FS=2.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=0.221;SOR=0.516	GT:AD:DP:GQ:PL	0/1:87,80:167:99:1841,0,2090	20	0	1	0