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	NSWES960-F	WT	HH	HZ	NC
chr1	1217537	1217537	G	A	exonic	SDF4	.	nonsynonymous SNV	SDF4:NM_016176:exon7:c.C1043T:p.A348V,	.	.	.	.	.	.	.	.	.	.	.	2393822	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.915	P	0.475	P	0.000	D	1.000	D	1.955	M	0.56	T	-0.639	T	0.202	T	0.825	5.521	35	4.9	2.546	9.227	17.258	0.309	0.0517235704221	0.0009	.	0.0004	0.0001	0.0002	0	0	0.0006	0	0	0.0003169	49	154602	rs113021852	0.0005	0.0005	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	8.966e-05	0.0004	0	0	0	0	0.0006	0.0003	2.321e-05	0.0003	0.0003	0.0004	0.0002	0.0005	0.0002	0.0002	0.0004	0.0004	0.0002	0	6.545e-05	0.0003	0	0	0	0.0005	0	0	0.013	0.53900	D	0.019	0.59159	D	0.915	0.50599	P	0.475	0.46927	P	0.000005	0.62929	D	0.106710	1	0.81001	D	1.845	0.48678	L	0.56	0.54540	T	-2.48	0.54059	N	0.757	0.75559	-0.6390	0.63188	T	0.202	0.55850	T	10	0.44007713	0.58044	T	0.051724	0.64779	D	0.309	0.63055	.	.	0.432716982437	0.42889	0.7638698898342031	0.76334	1.11051116609	0.78043	0.717314004898	0.69655	T	0.578	0.86141	D	-0.0840739	0.39049	T	0.0185113	0.71533	D	0.121896213262687	0.14613	T	0.935706	0.75920	D	0.21119149	0.43437	0.22675106	0.47663	0.21119149	0.43437	0.22675106	0.47662	-9.676	0.71950	D	.	.	.	.	.	.	.	5.479827	0.91365	32	0.99929151714861397	0.99279	0.99831	0.99737	D	AEFDBI	0.942501	0.94715	D	0.589668203893177	0.72531	5.820113	0.600938530005324	0.75009	6.23516	0.999999999999908	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	9.570000	0.97330	9.807000	0.81726	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.699000	0.34110	0.0:0.0:1.0:0.0	17.258	0.86947	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1090.98	33	chr1	1217537	.	G	A	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.70;DP=803;ExcessHet=0.0000;FS=5.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-1.610e-01;SOR=1.335	GT:AD:DP:GQ:PL	0/1:49,40:89:99:1105,0,1180	20	0	1	0
chr1	1454412	1454412	G	A	exonic	ATAD3C	.	nonsynonymous SNV	ATAD3C:NM_001039211:exon4:c.G290A:p.R97H,	.	.	421	1083	17	1	0	19	0.00869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.977	D	0.000	D	1.000	D	2.815	M	-3.46	D	0.933	D	0.896	D	0.371	2.540	14.45	2.47	1.219	8.342	10.118	0.618	.	.	0.00139776	0.0025	0.0003	0	0	0	0.0002	0.0018	0.0151	0.0013519	209	154602	rs572992447	0.0007	0.0008	0.0004	0.0011	0.0110	0.0007	0.0007	0.0104	0.0102	0.0001	0	3.842e-05	5.058e-05	0	0.0028	6.845e-05	0.0009	0.0110	0.0003	0.0003	0.0002	0.0005	0.0083	0.0003	0.0002	0.0063	0.0056	9.64e-05	0	0	0	0	0	0	0.0001	0	0.0083	0.009	0.57480	D	0.021	0.58089	D	1.0	0.90584	D	0.977	0.73820	D	0.000004	0.62929	D	0.062588	1	0.81001	D	2.565	0.75005	M	-3.46	0.94508	D	-4.46	0.77798	D	0.897	0.89689	0.933	0.96150	D	0.896	0.96548	D	10	0.019578815	0.00439	T	.	.	.	0.618	0.85144	.	.	0.935268674465	0.93459	0.19201238412604044	0.19119	0.521599372419	0.49927	0.629859805107	0.57126	T	0.098024	0.40143	T	-0.154887	0.27549	T	0.0141335	0.71251	D	0.137434613019176	0.16052	T	0.884811	0.60904	D	0.25087216	0.48092	0.14501208	0.34407	0.25087216	0.48092	0.14501208	0.34406	-11.074	0.80062	D	.	.	0.097	0.15877	B	.	.	4.657239	0.74301	26.1	0.99822682572362342	0.90502	0.96042	0.67270	D	AEFBI	0.729799	0.67740	D	0.26968118462816	0.54619	3.627008	0.0261499274633535	0.40931	2.450857	0.22694625616664	0.18421	0.554377	0.28877	0	0.573888	0.26702	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	2.47	2.47	0.29113	8.625000	0.90736	6.599000	0.56050	-0.329000	0.05792	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0:0.0:1.0:0.0	10.118	0.41778	867	0.32089	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	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1731.98	37	chr1	1454412	.	G	A	1731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.190e-01;DP=927;ExcessHet=0.0000;FS=0.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.13;MQRankSum=-1.423e+00;QD=15.33;ReadPosRankSum=-7.830e-01;SOR=0.594	GT:AD:DP:GQ:PL	0/1:44,69:113:99:1746,0,996	20	0	1	0
chr1	1525277	1525277	C	T	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon12:c.C1252T:p.R418W	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	.	412	1109	1	0	0	1	0.000450653	.	.	2203208	Inborn_genetic_diseases|Harel-Yoon_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.991	D	0.000	D	1.000	D	3.735	H	-3.26	D	0.138	D	0.550	D	0.864	2.093	12.96	2.42	0.204	0.333	10.867	0.215	0.102856342077	0.0002	0.000199681	0.0002	9.649e-05	0	0.0001	0	0.0001	0	0.0011	0.0002005	31	154602	rs139254288	0.0001	0.0001	8.305e-05	0.0001	0.0014	9.604e-05	9.084e-05	0.0007	0.0007	0.0002	2.236e-05	0	0.0003	0	0.0014	3.867e-05	0.0002	0.0009	0.0001	0.0001	0.0001	0.0002	0.0006	9.152e-05	7.706e-05	0.0002	0.0001	0.0003	0	0	0	0.0002	0	0	7.352e-05	0	0.0006	0.0	0.91255	D	0.023	0.63109	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999978	0.54805	D	4.045	0.97016	H	-3.26	0.93587	D	-7.36	0.95511	D	0.741	0.77039	0.138	0.84855	D	0.550	0.83527	D	10	0.67505985	0.70941	D	0.102856	0.77656	D	0.743	0.91112	.	.	0.948121439518	0.94758	0.8804251713247512	0.88010	0.596502844283	0.54888	0.823670804501	0.85590	D	0.746203	0.95748	D	0.123577	0.66728	D	0.348386	0.90253	D	0.369482979668987	0.27777	T	0.987201	0.97673	D	0.65672094	0.75723	0.48456365	0.70163	0.65672094	0.75724	0.48456365	0.70164	-14.331	0.94083	D	0.7462835926538849	0.82838	0.483	0.63820	A	.;.;.;.	.;.;.;.	3.524873	0.49431	22.8	0.99728345898339754	0.82549	0.36526	0.25553	N	AEFGBI	0.587077	0.58487	D	-0.186267832213533	0.33706	1.915303	-0.312275443445523	0.27702	1.539042	0.035677837938269	0.14211	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.84	2.42	0.28720	0.295000	0.18821	1.829000	0.29100	-0.302000	0.06182	0.771000	0.29368	0.499000	0.25194	0.002000	0.04165	0.6825:0.3175:0.0:0.0	10.867	0.46067	846	0.36215	.;ATPase, AAA-type, core|AAA+ ATPase domain;.;ATPase, AAA-type, core	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1572.98	34	chr1	1525277	.	C	T	1572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=884;ExcessHet=0.0000;FS=1.324;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.021;SOR=0.680	GT:AD:DP:GQ:PL	0/1:73,68:141:99:1587,0,1565	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	0/1:33,37,0:70:99:1431,0,1274,1530,1386,2916	10	3	7	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|1:144,73:217:99:0|1:10326244_G_C:1472,0,5159:10326244	8	0	13	0
chr1	10469269	10469269	A	G	exonic	DFFA	.	nonsynonymous SNV	DFFA:NM_004401:exon2:c.T206C:p.I69T	.	.	430	1060	32	0	0	32	0.0148699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	1.0	D	0.000	D	1.000	D	1.52	L	.	.	-0.509	T	0.282	T	0.865	3.927	19.98	5.49	2.076	7.677	15.613	0.598	0.0124785387908	0.0033	0.00219649	0.0034	0.0005	0.0025	0	0.0008	0.0047	0.0077	0.0031	0.0034734	537	154602	rs138842024	0.0045	0.0045	0.0046	0.0045	0.0151	0.0044	0.0044	0.0125	0.0116	0.0007	0.0031	0.0015	2.519e-05	0.0005	0.0151	0.0052	0.0041	0.0035	0.0032	0.0032	0.0034	0.0031	0.0059	0.0030	0.0029	0.0049	0.0045	0.0007	0.0022	0.0059	0.0009	0	0.0005	0.0102	0.0049	0.0052	0.0031	0.064	0.36509	T	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.935	0.51832	L	.	.	.	-2.22	0.51478	N	0.697	0.70175	-0.5091	0.68319	T	0.282	0.65399	T	9	0.016964287	0.00360	T	0.012479	0.31090	T	0.598	0.84074	.	.	0.698768432235	0.69616	0.42236400297861965	0.42153	1.02612671619	0.75280	0.56750524044	0.48325	T	0.231903	0.59834	T	0.0125401	0.53371	T	0.247571	0.85504	D	0.0113790384437481	0.00170	T	0.740126	0.35895	T	0.6165737	0.73580	0.4538176	0.68238	0.6165737	0.73581	0.4538176	0.68238	-7.612	0.58394	D	.	.	0.530	0.65937	A	.;.	.;.	4.307904	0.65834	24.9	0.99801278914353586	0.88639	0.99115	0.91446	D	AEFGBI	0.899852	0.84471	D	0.678280936748503	0.78211	6.825754	0.687543685434773	0.81434	7.52536	0.999999227905108	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	6.424000	0.73282	9.308000	0.79934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.613	0.76492	381	0.83684	CIDE-N domain|CIDE-N domain|CIDE-N domain;CIDE-N domain|CIDE-N domain|CIDE-N 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	1890.98	42	chr1	10469269	.	A	G	1890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.046e+00;DP=930;ExcessHet=0.0000;FS=9.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.239;SOR=0.291	GT:AD:DP:GQ:PL	0/1:63,77:140:99:1905,0,1598	20	0	1	0
chr1	10659877	10659877	C	G	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.G1165C:p.V389L	.	.	.	.	.	.	.	.	.	.	.	2910383	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.42	T	0.03	B	0.019	B	0.073	N	1.000	N	0.55	N	.	.	-1.051	T	0.044	T	0.086	0.917	8.734	3.7	1.066	1.183	8.787	0.067	0.00492363081495	0.0022	0.000998403	0.0005	0.0053	0.0004	0	0	6.26e-05	0	6.186e-05	0.0004722	73	154602	rs145422074	0.0002	0.0002	0.0002	0.0002	0.0069	0.0002	0.0002	0.0061	0.0058	0.0069	0.0004	0	0	0	0.0021	3.061e-05	0.0005	1.162e-05	0.0013	0.0013	0.0014	0.0012	0.0043	0.0011	0.0011	0.0038	0.0036	0.0043	0	0.0005	0	0	0	0	0.0001	0.0014	0	0.169	0.37966	T	0.425	0.13912	T	0.005	0.12996	B	0.007	0.12992	B	0.072888	0.21381	N	0.495689	0.999999	0.08975	N	0	0.06538	N	.	.	.	-0.24	0.11185	N	0.202	0.25499	-1.0511	0.14092	T	0.044	0.18948	T	9	0.004233271	0.00085	T	0.004924	0.12380	T	0.067	0.19503	.	.	0.0934897674506	0.08844	0.20601532280971077	0.20518	.	.	0.449248731136	0.31841	T	0.152627	0.49310	T	-0.581308	0.00189	T	-0.606832	0.12243	T	0.00206120113121569	0.00021	T	0.521348	0.17328	T	0.04749861	0.08127	0.052684743	0.08728	0.04749861	0.08127	0.052684743	0.08728	-2.853	0.09314	T	.	.	0.097	0.15743	B	.;.	.;.	2.315466	0.29642	18.19	0.96017262906046119	0.28462	0.77999	0.38419	D	AEFBI	0.185714	0.31303	N	-0.464827164123193	0.23240	1.24661	-0.310930504939589	0.27745	1.541738	0.969932732163445	0.29168	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.63	3.7	0.41607	0.628000	0.24215	2.207000	0.31336	-0.237000	0.07570	0.432000	0.26424	0.996000	0.32793	0.847000	0.40026	0.0:0.7635:0.1516:0.0849	8.787	0.33985	776	0.48302	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	645.98	33	chr1	10659877	.	C	G	645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=831;ExcessHet=0.0000;FS=2.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.248;SOR=0.815	GT:AD:DP:GQ:PL	0/1:25,23:48:99:660,0,689	20	0	1	0
chr1	12617183	12617183	G	A	exonic	DHRS3	.	nonsynonymous SNV	DHRS3:NM_004753:exon1:c.C166T:p.R56C,	.	.	406	1113	3	0	0	3	0.0013459	.	.	3202112	DHRS3-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.94	D	0.000	D	1.000	D	2.3	M	-2.63	D	0.711	D	0.806	D	0.593	3.049	16.17	4.92	2.252	0.941	11.925	0.648	0.432412456184	0.0025	0.000199681	0.0024	0.0007	0.0013	0	0.0002	0.0038	0.0035	0.0010	0.002141	331	154602	rs148358973	0.0028	0.0028	0.0028	0.0028	0.0032	0.0027	0.0027	0.0031	0.0030	0.0003	0.0016	0.0065	0	0.0005	0.0029	0.0032	0.0026	0.0010	0.0022	0.0022	0.0023	0.0020	0.0036	0.0020	0.0019	0.0032	0.0031	0.0003	0	0.0016	0.0075	0.0002	0.0007	0	0.0036	0.0043	0.0006	.	.	.	0.041	0.50514	D	0.895	0.49247	P	0.448	0.46037	P	0.000002	0.62929	D	0.098899	0.999917	0.51042	D	2.61	0.76335	M	.	.	.	.	.	.	0.491	0.52475	0.711	0.93310	D	0.806	0.93432	D	10	0.016029507	0.00337	T	0.432412	0.94007	D	.	.	.	.	0.642720413867	0.63976	0.6270243248523132	0.62635	.	.	0.696694374084	0.66667	T	0.573129	0.85899	D	-0.254928	0.13501	T	-0.140752	0.60053	T	0.0448356593784612	0.04572	T	0.96937	0.88985	D	0.22886197	0.45613	0.09869273	0.23539	0.22886197	0.45613	0.09869273	0.23538	-6.268	0.48469	T	.	.	0.223	0.45446	B	.	.	3.963210	0.58142	23.9	0.9972563379866346	0.82406	0.82313	0.41559	D	ALL	0.550964	0.56323	D	0.418375672752341	0.62433	4.45908	0.414760370109962	0.62484	4.464505	0.999999999957088	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.92	4.92	0.64147	1.087000	0.30476	8.060000	0.76395	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7054:0.2946	11.925	0.52098	843	0.36859	.	.	.	.	.	.	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	687.98	35	chr1	12617183	.	G	A	687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=0.895;SOR=0.660	GT:AD:DP:GQ:PL	0/1:37,28:65:99:702,0,819	20	0	1	0
chr1	13308568	13308568	T	C	exonic	PRAMEF33	.	nonsynonymous SNV	PRAMEF33:NM_001291381:exon4:c.T1106C:p.L369P,	.	.	679	828	13	2	0	17	0.0101614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201731777	0.0009	0.0017	0.0009	0.0009	0.0009	0.0008	0.0008	0.0008	0.0008	0.0009	0.0001	4.652e-05	0.0006	0.0032	0	0.0009	0.0010	0.0003	0.0008	0.0018	0.0008	0.0008	0.0013	0.0006	0.0006	0.0011	0.0010	0.0005	0	0.0001	0	0.0006	0.0002	0	0.0013	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1523625	0.28782	T	.	.	.	.	.	.	.	.	.	0.7705504389889053	0.77004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22186215	0.44772	0.23266211	0.48433	0.22186215	0.44772	0.23266211	0.48432	-9.303	0.69626	D	.	.	0.429	0.61140	A	.	.	1.867573	0.23722	16.13	0.30924229698854228	0.01717	0.00334	0.01740	N	AEFI	.	.	.	.	.	.	.	.	.	1.55844724575657E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0434673	0.02580	0.822	0.822	0.17944	0.086000	0.14780	0.350000	0.17468	0.229000	0.18133	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.0:1.0	3.983	0.08994	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	78.98	6	chr1	13308568	.	T	C	78.98	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.480e+00;DP=491;ExcessHet=0.3476;FS=28.099;InbreedingCoeff=-0.0989;MLEAC=3;MLEAF=0.079;MQ=30.00;MQRankSum=-5.490e-01;QD=3.04;ReadPosRankSum=-1.465e+00;SOR=3.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,1:7:24:0|1:13308531_A_G:24,0,249:13308531	16	0	3	2
chr1	15251837	15251837	C	T	exonic	FHAD1	.	nonsynonymous SNV	FHAD1:NM_052929:exon2:c.C53T:p.T18I,	.	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	U	1.000	D	0.96	L	-2.06	D	0.234	D	0.614	D	0.712	3.145	16.52	4.96	2.579	1.929	13.579	0.530	0.173684173235	.	.	4.32e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs759708313	5.714e-06	5.472e-06	1.409e-06	1.014e-05	8.835e-05	2.46e-06	1.78e-06	4.063e-05	2.853e-05	0	0	0	0	0	0	9.267e-07	0	8.835e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000037	0.55875	U	0.000000	0.514055	0.31623	N	1.01	0.25309	L	-2.06	0.85875	D	-3.08	0.63323	D	0.46	0.49692	0.234	0.86485	D	0.614	0.86363	D	10	0.3195651	0.49341	T	0.173684	0.85030	D	0.530	0.80188	0.544	0.65731	0.255777322467	0.25185	0.46373410468018794	0.46292	.	.	0.710314154625	0.68639	T	0.009301	0.08472	T	0.00130689	0.51834	T	0.000769326	0.70386	D	0.904075264930725	0.55744	D	0.764224	0.39120	T	0.2210155	0.44669	0.24311243	0.49748	0.2210155	0.44669	0.24311243	0.49746	-4.91	0.35847	T	.	.	0.899	0.82688	P	.;.	.;.	3.946097	0.57774	23.9	0.99902847722839527	0.97426	0.62260	0.31728	D	AEFBI	0.112386	0.22216	N	0.387490045166748	0.60744	4.266731	0.352205500166054	0.58641	4.035792	0.732935102612403	0.23080	0.549168	0.22868	0	0.573078	0.20572	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.96	4.96	0.65153	2.165000	0.42023	3.944000	0.40624	0.597000	0.34315	0.984000	0.35821	0.999000	0.35428	0.968000	0.53726	0.0:1.0:0.0:0.0	13.579	0.61354	963	0.08280	Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) 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	1571.98	35	chr1	15251837	.	C	T	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.223;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-5.000e-02;SOR=0.671	GT:AD:DP:GQ:PL	0/1:60,68:128:99:1586,0,1348	20	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	41030.51	718	chr1	16563946	.	C	T	41030.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.258;DP=13151;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.21;MQRankSum=-8.750e+00;QD=3.71;ReadPosRankSum=0.088;SOR=0.664	GT:AD:DP:GQ:PL	0/1:420,169:589:99:3354,0,12277	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	0/1:570,217:787:99:4196,0,15947	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	0/1:692,112:804:99:.:.:1148,0,23659	4	0	17	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0/1:387,210:597:99:4709,0,12517	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	0/1:419,158:577:99:3362,0,14029	1	0	20	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.1429	7171.99	1271	chr1	16567226	.	A	C	7171.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.095;DP=12314;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1651;MLEAC=6;MLEAF=0.143;MQ=57.63;MQRankSum=-1.564e+00;QD=0.89;ReadPosRankSum=0.304;SOR=0.650	GT:AD:DP:GQ:PL	0/1:834,101:935:99:319,0,22657	15	0	6	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.2381	6221.79	448	chr1	16577387	.	T	C	6221.79	.	AC=10;AF=0.238;AN=42;BaseQRankSum=1.96;DP=6360;ExcessHet=6.1002;FS=0.799;InbreedingCoeff=-0.3043;MLEAC=10;MLEAF=0.238;MQ=42.88;MQRankSum=-3.300e+00;QD=1.94;ReadPosRankSum=-6.470e-01;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:311,37:348:99:.:.:103,0,8763	11	0	10	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6554.32	70	chr1	16579293	.	A	G	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=1.87;DP=1441;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-7.480e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,8:83:99:0|1:16579293_A_G:110,0,3108:16579293	0	0	19	2
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	6554.32	70	chr1	16579294	.	T	C	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-5.460e+00;DP=1432;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-9.680e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,8:83:99:0|1:16579293_A_G:110,0,3108:16579293	0	0	19	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	3659.58	71	chr1	16579305	.	G	A	3659.58	.	AC=18;AF=0.429;AN=42;BaseQRankSum=3.29;DP=1401;ExcessHet=30.0624;FS=127.752;InbreedingCoeff=-0.7505;MLEAC=18;MLEAF=0.429;MQ=35.79;MQRankSum=0.355;QD=3.02;ReadPosRankSum=-7.570e-01;SOR=8.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,7:80:74:0|1:16579305_G_A:74,0,3004:16579305	3	0	18	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.3095	1830.34	67	chr1	16579308	.	G	C	1830.34	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.233;DP=1379;ExcessHet=11.8493;FS=101.562;InbreedingCoeff=-0.4491;MLEAC=13;MLEAF=0.310;MQ=35.77;MQRankSum=0.401;QD=2.26;ReadPosRankSum=-6.640e-01;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,7:80:74:0|1:16579305_G_A:74,0,3005:16579305	8	0	13	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26,	.	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	13930.12	129	chr1	16759590	.	G	GC	13930.12	.	AC=26;AF=0.619;AN=42;BaseQRankSum=5.56;DP=1816;ExcessHet=4.5793;FS=24.066;InbreedingCoeff=-0.2117;MLEAC=26;MLEAF=0.619;MQ=45.00;MQRankSum=-3.164e+00;QD=9.41;ReadPosRankSum=-3.895e+00;SOR=1.240	GT:AD:DP:GQ:PL	0/1:114,13:127:78:78,0,3668	2	7	12	0
chr1	19119676	19119676	G	A	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon70:c.C10336T:p.L3446F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.003	B	0.000	D	1.000	D	1.1	L	-0.16	T	-0.916	T	0.164	T	0.393	3.541	18.07	5.04	1.532	4.230	11.018	0.068	0.0102062196391	.	.	8.245e-06	0	0	0	0	0	0	6.075e-05	6.5e-06	1	154602	rs764267724	3.424e-06	3.42e-06	4.086e-06	2.755e-06	0.0002	1e-06	7.3e-07	3.85e-06	1.44e-06	0	2.238e-05	0	0	0	0.0002	9.004e-07	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	.	.	.	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	0.66	0.16226	N	-0.16	0.65378	T	-1.59	0.38345	N	0.69	0.69562	-0.9163	0.46050	T	0.164	0.50176	T	10	0.32360423	0.49695	T	0.010206	0.26478	T	0.068	0.19811	0.301	0.26843	0.043077524339	0.03247	0.22467990814059002	0.22382	1.86334380764	0.92429	0.801972150803	0.82264	T	0.235805	0.60314	T	-0.156293	0.27332	T	-0.280753	0.46728	T	0.486415266990662	0.32133	T	0.973903	0.90628	D	0.14832357	0.33866	0.16086681	0.37447	0.14832357	0.33866	0.16086681	0.37446	-5.848	0.44990	T	.	.	0.144	0.31733	B	.	.	3.860315	0.55978	23.7	0.99661549509175684	0.77947	0.95997	0.67068	D	AEFBI	0.290906	0.40217	N	-0.0581046289025043	0.39241	2.310926	0.133882127440065	0.46294	2.877676	0.791626923026973	0.24025	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.04	0.67293	4.309000	0.58928	10.040000	0.83183	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.15:0.0:0.85:0.0	11.018	0.46917	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	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	818.98	38	chr1	19119676	.	G	A	818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.442e+00;DP=734;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=1.81;SOR=0.648	GT:AD:DP:GQ:PL	0/1:22,30:52:99:833,0,597	20	0	1	0
chr1	23521045	23521045	G	A	exonic	E2F2	.	nonsynonymous SNV	E2F2:NM_004091:exon4:c.C605T:p.T202I,	.	.	415	1077	30	0	0	30	0.0137363	.	.	718803	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.974	D	0.601	P	0.128	N	0.593	N	1.61	L	-2.39	D	0.367	D	0.660	D	0.207	1.996	12.63	4.07	0.823	0.911	15.560	0.262	0.0904742021701	0.0035	0.000998403	0.0030	0.0014	0.0049	0	0.0002	0.0041	0.0034	0.0008	0.002943	455	154602	rs116694174	0.0042	0.0042	0.0043	0.0042	0.0239	0.0041	0.0041	0.0206	0.0194	0.0016	0.0045	0.0013	0	0.0003	0.0239	0.0048	0.0048	0.0014	0.0031	0.0031	0.0035	0.0027	0.0058	0.0028	0.0028	0.0048	0.0045	0.0009	0	0.0058	0.0017	0	9.416e-05	0.0170	0.0045	0.0071	0.0019	0.114	0.28646	T	0.175	0.29945	T	0.974	0.57829	D	0.601	0.50808	P	0.128026	0.18746	N	0.590344	0.592948	0.31004	N	2.35	0.67516	M	-2.39	0.88377	D	-1.23	0.31170	N	0.055	0.02658	0.367	0.88598	D	0.660	0.88190	D	10	0.0036780536	0.00067	T	0.090474	0.75526	D	0.262	0.57482	.	.	0.619622683959	0.61654	0.18525270660731205	0.18443	0.397296365121	0.40821	0.36440384388	0.20025	T	0.145183	0.48218	T	-0.353739	0.04496	T	-0.278564	0.46951	T	0.0231836068114854	0.01045	T	.	.	.	0.038707763	0.05208	0.056382116	0.10063	0.038707763	0.05208	0.056382116	0.10063	-6.728	0.52021	T	.	.	0.107	0.20196	B	.	.	2.635034	0.34271	19.58	0.9948509391885475	0.67124	0.43320	0.27072	N	AEFGBCI	0.112629	0.22255	N	-0.244276433045562	0.31333	1.755817	-0.334354100849213	0.26997	1.495025	0.999997327058369	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.99	4.07	0.46726	1.320000	0.33272	1.821000	0.29040	-0.153000	0.12021	0.002000	0.15269	0.012000	0.20211	0.187000	0.21511	0.0:0.2617:0.7383:0.0	15.560	0.75974	366	0.84579	.	.	.	.	.	.	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	1778.08	32	chr1	23521045	.	G	A	1778.08	.	AC=2;AF=0.048;AN=42;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.19;SOR=1.569	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1806,170,0	20	1	0	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33415.17	33	chr1	26282323	.	A	G,*	33415.17	.	AC=30,8;AF=0.714,0.190;AN=42;BaseQRankSum=0.532;DP=976;ExcessHet=0.6776;FS=0.923;InbreedingCoeff=-0.1053;MLEAC=30,8;MLEAF=0.714,0.190;MQ=60.00;MQRankSum=0.00;QD=31.59;ReadPosRankSum=-6.110e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,70,0:70:99:1|1:26282278_C_T:3130,211,0,3130,211,3130:26282278	0	9	4	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14396.36	49	chr1	26282374	.	ACC	*,A	14396.36	.	AC=10,12;AF=0.294,0.353;AN=34;BaseQRankSum=-8.440e-01;DP=1160;ExcessHet=1.0911;FS=8.398;InbreedingCoeff=-0.1667;MLEAC=11,13;MLEAF=0.324,0.382;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.737;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,76:76:99:1|1:26282278_C_T:3318,3318,3318,229,229,0:26282278	1	0	5	4
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11324.73	50	chr1	26282386	.	GCCGGGA	*,G	11324.73	.	AC=12,10;AF=0.353,0.294;AN=34;BaseQRankSum=0.255;DP=1262;ExcessHet=1.0911;FS=8.945;InbreedingCoeff=-0.1667;MLEAC=13,11;MLEAF=0.382,0.324;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=2.17;SOR=0.289	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,68,0:68:99:1|1:26282278_C_T:2958,205,0,2958,205,2958:26282278	1	1	5	4
chr1	27960209	27960209	-	GCTGGT	exonic	XKR8	.	nonframeshift insertion	XKR8:NM_018053:exon1:c.140_141insGCTGGT:p.L50_A51insVL,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2070.05	33	chr1	27960209	.	C	CGCTGGT	2070.05	.	AC=2;AF=0.048;AN=42;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=26.85;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,48:48:99:2098,144,0	20	1	0	0
chr1	29279033	29279033	A	C	exonic	PTPRU	.	nonsynonymous SNV	PTPRU:NM_001195001:exon9:c.A1475C:p.E492A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.999	D	0.000	D	1.000	D	2.125	M	0.64	T	-0.545	T	0.291	T	0.596	3.972	20.3	5.75	2.192	9.278	15.230	0.460	0.0403148726591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.955e-07	6.84e-07	0	1.402e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.682e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.55530	D	0.003	0.76473	D	0.999	0.77913	D	0.999	0.92359	D	0.000011	0.62929	D	0.065249	1	0.81001	D	1.865	0.49290	L	0.64	0.52867	T	-4.09	0.74821	D	0.608	0.66016	-0.5449	0.66978	T	0.291	0.66316	T	9	0.6366019	0.68817	D	0.040315	0.59308	D	0.460	0.75755	0.425	0.47021	0.367638622828	0.36380	0.5581836534350619	0.55745	1.26243223783	0.82077	0.749131679535	0.74318	T	0.335952	0.70551	T	0.037897	0.56770	T	-0.18334	0.56211	T	0.983167522394134	0.74933	D	0.89781	0.64256	D	0.2773714	0.50795	0.28455254	0.54455	0.2773714	0.50795	0.28455254	0.54454	-9.045	0.68057	D	.	.	0.146	0.37464	B	.;.;.;.	.;.;.;.	4.310324	0.65883	24.9	0.99621748187133408	0.75473	0.99782	0.99427	D	AEFBI	0.942030	0.94607	D	0.712018896990165	0.80422	7.290332	0.684840130914072	0.81228	7.477806	0.999999997136311	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.579976	0.35079	0	.	.	5.75	5.75	0.90390	9.255000	0.94710	11.283000	0.91806	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.623000	0.31974	1.0:0.0:0.0:0.0	15.230	0.73070	370	0.84343	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	0.04762	2656.08	35	chr1	29279033	.	A	C	2656.08	.	AC=2;AF=0.048;AN=42;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.88;SOR=1.329	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2684,258,0	20	1	0	0
chr1	32771244	32771244	G	A	exonic	KIAA1522	.	nonsynonymous SNV	KIAA1522:NM_001198972:exon6:c.G1888A:p.A630T	.	.	406	1101	15	0	0	15	0.0067659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.0	B	0.275	N	1.000	N	1.1	L	2.72	T	-0.986	T	0.001	T	0.079	-0.489	1.751	-3.87	-0.879	-0.954	2.183	0.009	.	0.0019	0.0157748	0.0086	0.0076	0.0002	0.0932	0.0012	0.0011	0.0056	0.0038	0.0075355	1165	154602	rs117872916	0.0032	0.0032	0.0031	0.0033	0.0792	0.0031	0.0031	0.0769	0.0759	0.0067	0.0003	0.0024	0.0792	0.0021	0.0030	0.0004	0.0045	0.0048	0.0053	0.0054	0.0047	0.0059	0.0908	0.0050	0.0049	0.0839	0.0811	0.0053	0	0.0012	0.0026	0.0908	0.0012	0	0.0007	0.0058	0.0057	0.422	0.09776	T	0.237	0.24621	T	0.0	0.02946	B	0.0	0.01387	B	0.274896	0.15056	N	0.492187	1	0.19781	N	0.345	0.11182	N	2.71	0.12055	T	-0.2	0.11008	N	0.062	0.05414	-0.9860	0.33590	T	0.001	0.00287	T	10	0.0017859936	0.00023	T	.	.	.	0.009	0.00846	.	.	0.196089822672	0.19227	0.1885308462771647	0.18771	0.113547634044	0.12816	0.317226052284	0.13000	T	0.002445	0.01836	T	-0.766764	0.00014	T	-0.796702	0.01986	T	3.34079086314887e-05	0.00000	T	0.535046	0.17917	T	0.026457611	0.01705	0.039930258	0.04200	0.026457611	0.01704	0.039930258	0.04200	-4.141	0.26577	T	.	.	0.064	0.01960	B	.;.;.	.;.;.	-1.056966	0.00693	0.020	0.55504421104957669	0.05356	0.03974	0.09385	N	AEFDBCI	0.062961	0.12137	N	-1.47517868184309	0.02026	0.08905271	-1.57036657309363	0.01839	0.08379932	0.999992884666669	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.26897	0.05253	2	0.683762	0.67416	0	.	.	3.64	-3.87	0.03939	-1.747000	0.01926	-1.928000	0.04482	-1.556000	0.00955	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4567:0.1257:0.2903:0.1273	2.183	0.03643	308	0.87611	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1539.11	38	chr1	32771244	.	G	A	1539.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.550e-01;DP=915;ExcessHet=0.1072;FS=0.567;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=0.190;SOR=0.622	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1013,0,1227	19	0	2	0
chr1	32964396	32964396	G	A	exonic	RNF19B	.	nonsynonymous SNV	RNF19B:NM_001127361:exon1:c.C290T:p.A97V	.	.	472	1041	9	0	0	9	0.00430416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.266	B	0.063	B	.	.	1.000	N	0.345	N	1.53	T	-1.005	T	0.030	T	0.088	-0.383	2.203	-0.228	-0.041	1.639	3.111	0.038	.	.	0.0115815	0.0097	0	0	0.0667	.	0	0.0417	0.0098	0.0007503	116	154602	rs368813522	0.0022	0.0020	0.0021	0.0023	0.0694	0.0021	0.0021	0.0667	0.0656	4.419e-05	0.0002	0.0028	0.0694	0.0021	0.0013	0.0002	0.0039	0.0051	0.0032	0.0033	0.0025	0.0039	0.0762	0.0030	0.0029	0.0699	0.0675	0	0	0.0002	0.0032	0.0762	0.0009	0	0.0004	0.0039	0.0065	0.301	0.15613	T	0.13	0.34716	T	0.174	0.28827	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.52	0.30669	T	-0.49	0.16393	N	0.075	0.04913	-1.0053	0.28368	T	0.030	0.13023	T	9	0.0017747283	0.00023	T	.	.	.	0.038	0.09825	.	.	0.123314135267	0.11883	0.3987242596299398	0.39787	0.432816247524	0.43450	0.86762201786	0.92227	D	0.123703	0.44825	T	-0.685815	0.00044	T	-0.691958	0.06276	T	0.0108935615067181	0.00156	T	0.336266	0.08539	T	0.030421173	0.02704	0.041678023	0.04792	0.030421173	0.02703	0.041678023	0.04792	-5.973	0.46053	T	.	.	0.102	0.20274	B	.;.;.	.;.;.	1.327328	0.17323	13.09	0.96145430819206823	0.28850	0.10379	0.15902	N	AEFDBCIJ	0.049491	0.08555	N	-1.08968595201596	0.06831	0.3156419	-1.15201343682175	0.06731	0.3250254	0.999999022868977	0.74766	0.495885	0.18260	0	0.56911	0.20461	1	0.608004	0.38603	0	0.621717	0.48901	0	.	.	1.94	-0.228	0.12452	1.168000	0.31468	-1.289000	0.05805	0.223000	0.18093	0.003000	0.16062	0.003000	0.18671	0.112000	0.18829	0.1856:0.2853:0.5291:0.0	3.111	0.05976	542	0.72843	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1555.12	17	chr1	32964396	.	G	A	1555.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.637e+00;DP=559;ExcessHet=0.1072;FS=6.975;InbreedingCoeff=-0.0504;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.287;SOR=0.326	GT:AD:DP:GQ:PL	0/1:10,18:28:99:419,0,262	19	0	2	0
chr1	33725350	33725350	C	G	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_001281956:exon17:c.G2694C:p.E898D	.	.	425	1087	10	0	0	10	0.00457875	0.0002	0.126	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.998	D	0.987	D	0.000	D	1.000	D	1.17	L	0.18	T	-0.881	T	0.172	T	0.689	3.753	19.05	0.363	0.089	0.028	9.777	0.380	0.0415479197528	0.0061	0.00119808	0.0038	0.0011	0.0009	0	0.0003	0.0063	0.0033	0.0012	0.0040232	622	154602	rs61735686	0.0062	0.0062	0.0063	0.0060	0.0075	0.0061	0.0060	0.0073	0.0073	0.0006	0.0016	0.0038	0	0.0007	0.0017	0.0075	0.0057	0.0012	0.0036	0.0036	0.0041	0.0032	0.0065	0.0034	0.0033	0.0060	0.0058	0.0015	0	0.0013	0.0023	0	0.0007	0	0.0065	0.0038	0.0010	0.025	0.47320	D	0.004	0.74150	D	0.971	0.57185	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.99729	0.43775	D	0.93	0.23535	L	0.18	0.60361	T	-2.59	0.55821	D	0.868	0.86511	-0.8812	0.49665	T	0.172	0.51437	T	10	0.03079778	0.01208	T	0.041548	0.59986	D	0.380	0.69780	0.414	0.45216	0.493021045079	0.48934	0.41920477619135765	0.41836	.	.	0.697892963886	0.66840	T	0.050783	0.28695	T	-0.3	0.08660	T	-0.198579	0.54781	T	0.0300565867139397	0.01997	T	0.844715	0.52235	T	0.3322215	0.55652	0.24624981	0.50131	0.3322215	0.55652	0.24624981	0.50130	-7.786	0.61906	D	.	.	0.432	0.61285	A	.;.;.	.;.;.	3.035975	0.40681	21.2	0.99784639850381784	0.87131	0.90319	0.51400	D	AEFBI	0.521267	0.54577	D	-0.0302188169619208	0.40490	2.405477	-0.0734200195148169	0.36493	2.124482	0.00244880632794547	0.09436	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	5.45	0.363	0.15353	-0.004000	0.12813	0.626000	0.20179	-0.182000	0.10109	0.893000	0.31264	0.998000	0.33993	0.966000	0.53164	0.0:0.4925:0.0:0.5075	9.777	0.39796	514	0.74853	.;CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	650.98	34	chr1	33725350	.	C	G	650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.900e-01;DP=714;ExcessHet=0.0000;FS=2.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-1.830e-01;SOR=0.379	GT:AD:DP:GQ:PL	0/1:20,25:45:99:665,0,551	20	0	1	0
chr1	34197583	34197583	C	A	exonic	C1orf94	.	nonsynonymous SNV	C1orf94:NM_001134734:exon2:c.C679A:p.R227S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.01	B	0.027	B	0.601	N	1.000	N	0.895	L	2.05	T	-0.994	T	0.034	T	0.155	0.012	4.074	1.86	1.080	-0.066	8.205	0.017	0.00588625092613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.12187	T	0.325	0.18846	T	0.01	0.15535	B	0.027	0.21085	B	0.600777	0.10960	N	0.796164	1	0.08975	N	0.895	0.22405	L	2.05	0.20664	T	-0.51	0.15986	N	0.1	0.08227	-0.9936	0.31670	T	0.034	0.14726	T	10	0.0664728	0.09122	T	0.005886	0.15310	T	0.017	0.02790	0.201	0.11522	0.221019684889	0.21715	0.07757229221595306	0.07693	0.038680676858	0.04113	.	.	.	0.003886	0.03292	T	-0.27599	0.11097	T	-0.634217	0.10097	T	0.0388216638700326	0.03479	T	0.342266	0.07430	T	0.06863334	0.14967	0.0407893	0.04489	0.06863334	0.14967	0.0407893	0.04489	-2.195	0.04994	T	.	.	0.158	0.35034	B	.;.	.;.	-0.182471	0.03181	0.522	0.9462432071644622	0.25205	0.01792	0.05602	N	AEFDBI	0.065889	0.12874	N	-0.914391860417981	0.10505	0.5023107	-0.919997211765697	0.11623	0.5932474	0.335357170490513	0.19528	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.98	1.86	0.24489	-0.112000	0.10762	-0.158000	0.11351	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2993:0.5542:0.1464:0.0	8.205	0.30612	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1853.98	37	chr1	34197583	.	C	A	1853.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=1769;ExcessHet=0.0000;FS=1.359;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=-1.401e+00;SOR=0.572	GT:AD:DP:GQ:PL	0/1:70,65:135:99:1868,0,1859	20	0	1	0
chr1	36099320	36099320	G	A	exonic	COL8A2	.	nonsynonymous SNV	COL8A2:NM_001294347:exon4:c.C166T:p.R56W	Corneal dystrophy, Fuchs endothelial, 1, Autosomal dominant;Corneal dystrophy, posterior polymorphous 2	.	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.875	P	0.000	D	0.921	D	1.04	L	-2.89	D	0.370	D	0.708	D	0.263	2.187	13.27	2.47	0.478	1.998	6.206	0.415	0.255311484584	.	0.000199681	0.0016	0	0	0.0096	0	0.0019	0	0	0.0003493	54	154602	rs201383455	0.0002	0.0002	0.0002	0.0002	0.0024	0.0002	0.0002	0.0020	0.0019	0	0	0.0051	0.0024	2.073e-05	0	3.642e-05	0.0003	3.656e-05	0.0003	0.0003	0.0003	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	0	0	0	0.0058	0.0037	0	0	1.476e-05	0	0	0.021	0.49117	D	0.104	0.38160	T	0.997	0.70673	D	0.875	0.62107	P	0.000005	0.62929	D	0.061282	0.92121	0.36683	D	0.55	0.14455	N	-2.89	0.91696	D	-0.97	0.25770	N	0.271	0.31140	0.370	0.88639	D	0.708	0.89944	D	10	0.007383734	0.00168	T	0.255311	0.89286	D	0.415	0.72555	0.494	0.58206	0.454402166774	0.45062	0.3874453968155254	0.38659	0.315069041011	0.33789	0.708464801311	0.68372	T	0.178078	0.52859	T	-0.312217	0.07554	T	-0.222728	0.52473	T	0.0913014857089934	0.11372	T	0.59824	0.38410	T	0.09066944	0.21222	0.07229294	0.15581	0.104539156	0.24713	0.0828098	0.18928	-8.26	0.62828	D	.	.	0.192	0.43448	B	.;.;.	.;.;.	3.542896	0.49765	22.8	0.99086312414442612	0.52100	0.67205	0.33349	D	AEFDBCI	0.699697	0.65696	D	0.22882124971645	0.52600	3.433176	0.190297427493165	0.49315	3.136089	0.999991743748032	0.74766	0.533608	0.22052	0	0.547309	0.14657	0	0.576033	0.28219	0	0.638833	0.57524	0	.	.	4.57	2.47	0.29113	1.715000	0.37591	1.810000	0.28954	-0.179000	0.10443	0.701000	0.28635	0.974000	0.29927	0.986000	0.61781	0.0:0.2736:0.3399:0.3866	6.206	0.19817	183	0.92871	.;.;.	.	.	.	.	.	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	314.98	31	chr1	36099320	.	G	A	314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.250e-01;DP=694;ExcessHet=0.0000;FS=4.359;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-7.200e-02;SOR=0.399	GT:AD:DP:GQ:PL	0/1:8,13:21:99:329,0,200	20	0	1	0
chr1	37969440	37969440	G	C	exonic	SF3A3	.	nonsynonymous SNV	SF3A3:NM_001320830:exon12:c.C1036G:p.L346V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	3.36	M	.	.	0.330	D	0.601	D	0.86	4.922	28.5	5.5	2.769	4.516	19.786	0.695	0.0404402354651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.48	0.92553	M	.	.	.	-2.62	0.56301	D	0.735	0.73555	0.330	0.88030	D	0.601	0.85821	D	9	0.8010634	0.79507	D	0.04044	0.59376	D	0.695	0.88960	0.666	0.80401	0.502157479645	0.49853	0.9475430450175392	0.94737	2.2311931778	0.95933	0.866872191429	0.92117	D	0.474386	0.80585	T	0.382666	0.88879	D	0.311897	0.88739	D	0.968859957868249	0.68386	D	0.985781	0.95172	D	0.83350277	0.86148	0.68840945	0.81671	0.83350277	0.86150	0.68840945	0.81671	-10.738	0.78201	D	.	.	0.999	0.98631	P	.	.	5.166724	0.86585	29.0	0.99865253356157146	0.94366	0.98916	0.88583	D	AEFBI	0.696538	0.65485	D	0.88846885093404	0.91182	10.756	0.81904994074954	0.91085	10.71129	0.999999998534391	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.656000	0.61178	11.718000	0.94767	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.786	0.96436	458	0.78890	Domain of unknown function DUF3449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	31.98	65	chr1	37969440	.	G	C	31.98	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-2.749e+00;DP=1843;ExcessHet=0.1072;FS=242.021;InbreedingCoeff=-0.1382;MLEAC=2;MLEAF=0.067;MQ=60.00;MQRankSum=0.00;QD=0.24;ReadPosRankSum=-8.600e-02;SOR=11.492	GT:AD:DP:GQ:PL	0/1:48,21:69:29:29,0,1241	13	0	2	6
chr1	39414347	39414347	A	C	exonic	KIAA0754	.	nonsynonymous SNV	KIAA0754:NM_015038:exon1:c.A4082C:p.E1361A,	.	.	425	1084	13	0	0	13	0.00596057	.	.	2812693	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.987	D	0.638	P	.	.	1.000	N	0.55	N	1.65	T	-1.097	T	0.049	T	0.31	2.014	12.69	4.13	1.664	0.977	9.871	0.048	.	0.0058	0.00339457	0.0042	0.0015	0.0024	0	0.0040	0.0059	0.0068	0.0022	0.0041461	641	154602	rs78342613	0.0062	0.0062	0.0064	0.0060	0.0071	0.0061	0.0061	0.0070	0.0069	0.0011	0.0030	0.0024	5.038e-05	0.0057	0.0028	0.0071	0.0069	0.0023	0.0041	0.0041	0.0046	0.0037	0.0067	0.0039	0.0038	0.0062	0.0060	0.0014	0.0033	0.0029	0.0029	0	0.0040	0.0034	0.0067	0.0047	0.0014	.	.	.	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.114	0.10198	-1.0975	0.04407	T	0.049	0.20829	T	9	0.0047133863	0.00099	T	.	.	.	0.048	0.13305	.	.	0.316310170894	0.31242	.	.	0.0512310808619	0.05634	0.300970971584	0.10545	T	0.056866	0.30407	T	-0.408392	0.02037	T	-0.356652	0.38440	T	0.0143324613209288	0.00286	T	0.508249	0.16142	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.32541	B	.;.	.;.	1.452021	0.18731	13.90	0.98207659076379761	0.39184	0.36571	0.25563	N	AEFDBCI	0.104875	0.20972	N	-0.00264177093971106	0.41737	2.501784	-0.0253563651691214	0.38574	2.274527	0.999999942115561	0.74766	0.722319	0.85440	0	0.546412	0.12157	0	0.698795	0.65105	0	0.657601	0.63696	0	.	.	4.13	4.13	0.47661	0.321000	0.19306	3.674000	0.39446	0.535000	0.24933	0.222000	0.24557	0.999000	0.35428	0.776000	0.36750	1.0:0.0:0.0:0.0	9.871	0.40343	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1216.98	34	chr1	39414347	.	A	C	1216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.608e+00;DP=883;ExcessHet=0.0000;FS=2.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-1.528e+00;SOR=0.481	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1231,0,1357	20	0	1	0
chr1	39511904	39511905	GG	-	exonic;splicing	BMP8A;BMP8A	.	frameshift deletion	BMP8A:NM_181809:exon3:c.673delG:p.H226Tfs*40,	.	.	546	26	383	566	1	1516	0.966816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284964917	3.274e-06	4.184e-06	2.207e-06	4.319e-06	3.209e-05	8.7e-07	2.4e-07	5.1e-07	1.9e-07	0	3.209e-05	0	0	0	0	3.046e-06	0	0	9.616e-06	1.344e-05	0	2.033e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	7775.32	8	chr1	39511903	.	CGG	TGG,C	7775.32	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=2.52;DP=302;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2724;MLEAC=32,1;MLEAF=0.762,0.024;MQ=26.98;MQRankSum=0.00;QD=26.63;ReadPosRankSum=0.072;SOR=3.721	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,8,0:8:24:.:.:254,24,0,254,24,254	0	12	8	0
chr1	43441554	43441554	T	C	exonic	SZT2	.	nonsynonymous SNV	SZT2:NM_015284:exon53:c.T7391C:p.V2464A	Epileptic encephalopathy, early infantile, 18, Autosomal recessive	.	417	1087	17	1	0	19	0.00866393	.	.	237176	SZT2-related_disorder|not_provided|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_18	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014201,MedGen:C3809624,OMIM:615476,Orphanet:369894	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.4	B	0.121	B	0.012	N	1.000	N	1.04	L	.	.	-1.009	T	0.061	T	0.255	2.501	14.32	4.42	2.141	5.154	13.992	0.034	0.00470960270413	0.0039	0.000798722	0.0053	0.0011	0.0019	0	0.0005	0.0086	0.0044	0.0015	0.0052587	813	154602	rs150113647	0.0045	0.0045	0.0046	0.0044	0.0053	0.0044	0.0043	0.0052	0.0051	0.0008	0.0028	0.0018	0	0.0011	0.0047	0.0053	0.0040	0.0013	0.0033	0.0033	0.0035	0.0031	0.0059	0.0031	0.0030	0.0054	0.0052	0.0010	0	0.0026	0.0012	0	0.0006	0.0068	0.0059	0.0024	0.0008	0.033	0.44358	D	0.008	0.67890	D	0.4	0.34852	B	0.121	0.32300	B	0.012492	0.29156	N	0.334680	0.999999	0.08975	N	1.67	0.42885	L	.	.	.	-1.83	0.42957	N	0.706	0.70966	-1.0086	0.27354	T	0.061	0.25383	T	9	0.009698093	0.00218	T	0.00471	0.11722	T	.	.	.	.	0.501874446873	0.49824	0.5733369692536592	0.57262	0.525076752411	0.50180	0.432314991951	0.29525	T	0.113489	0.43057	T	-0.399741	0.02324	T	-0.340438	0.40294	T	0.00609547073741499	0.00067	T	0.518148	0.16784	T	0.03678032	0.04591	0.093024164	0.21952	0.039399084	0.05433	0.08782407	0.20439	-3.095	0.11239	T	0.2323983399921941	0.31454	0.176	0.38534	B	.;.	.;.	3.281105	0.44954	22.0	0.99446806567216017	0.65071	0.92859	0.56721	D	AEFDGBCI	0.317305	0.42134	N	0.100715217444389	0.46496	2.889063	0.233314450735381	0.51704	3.350794	0.788456764300544	0.23972	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.61	4.42	0.52775	4.090000	0.57417	4.280000	0.42877	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:0.1343:0.8657	13.992	0.63886	782	0.47442	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	3364.11	36	chr1	43441554	.	T	C	3364.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.450e-01;DP=998;ExcessHet=0.1072;FS=2.903;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=2.07;SOR=0.901	GT:AD:DP:GQ:PL	0/1:57,71:128:99:1814,0,1476	19	0	2	0
chr1	45499580	45499580	C	A	exonic	CCDC163	.	nonsynonymous SNV	CCDC163:NM_001102601:exon1:c.G30T:p.Q10H	.	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.01	B	0.016	B	.	.	1.000	N	.	.	.	.	-1.023	T	0.069	T	0.068	1.742	11.79	1.24	0.073	0.401	8.668	0.035	0.00497468085921	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756488005	6.404e-06	9.542e-06	7.027e-06	5.883e-06	0.0002	1.5e-06	1.01e-06	2.29e-06	6.4e-07	0	0	0	0	0	0.0002	8.615e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	0.05920	T	.	.	.	.	.	.	.	.	.	.	0.999903	0.19694	N	.	.	.	.	.	.	.	.	.	0.22	0.24634	-1.0230	0.22736	T	0.069	0.28313	T	7	0.11895102	0.22500	T	0.004975	0.12535	T	.	.	0.217	0.13788	0.171388866994	0.16791	0.09553565647196068	0.09485	.	.	.	.	.	.	.	.	-0.137641	0.30267	T	-0.435488	0.29314	T	0.509228587150574	0.32968	D	0.423058	0.11286	T	0.035792988	0.04279	0.08966557	0.20981	0.035792988	0.04279	0.08966557	0.20980	-4.383	0.29326	T	.	.	0.311	0.55313	B	.;.	.;.	1.168359	0.15580	11.95	0.97722145914521441	0.35561	0.46172	0.27701	N	AEFDBCI	0.099655	0.20055	N	-0.621315161741555	0.18304	0.949264	-0.602066211955068	0.19440	1.043	0.99999442965784	0.74766	0.242642	0.04205	2	0.298843	0.05288	2	0.47417	0.07244	0	0.249971	0.05119	0	.	.	5.28	1.24	0.20416	0.419000	0.20967	0.445000	0.18464	0.599000	0.40250	0.979000	0.35152	0.995000	0.32472	0.031000	0.13245	0.0:0.4351:0.48:0.0849	8.668	0.33296	175	0.93230	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1859.98	33	chr1	45499580	.	C	A	1859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.314e+00;DP=858;ExcessHet=0.0000;FS=2.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.693;SOR=0.959	GT:AD:DP:GQ:PL	0/1:89,75:164:99:1874,0,2324	20	0	1	0
chr1	50419077	50419077	A	T	exonic	DMRTA2	.	nonsynonymous SNV	DMRTA2:NM_032110:exon3:c.T1217A:p.L406Q,	.	.	338	1164	19	1	0	21	0.00893997	.	.	1328078	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.64	T	0.968	D	0.452	P	0.096	N	0.605	N	0.69	N	1.46	T	-1.122	T	0.003	T	0.405	3.388	17.43	3.19	1.440	3.671	10.118	0.098	.	.	.	0.0033	0	0	0	.	0.0217	0	0.0019	0.0002135	33	154602	rs184374125	0.0035	0.0030	0.0035	0.0036	0.0122	0.0035	0.0034	0.0091	0.0080	0.0004	0.0051	0.0022	0	0.0003	0.0122	0.0037	0.0042	0.0032	0.0026	0.0026	0.0026	0.0026	0.0040	0.0024	0.0023	0.0036	0.0035	0.0008	0	0.0035	0.0017	0	0.0004	0.0139	0.0040	0.0058	0.0025	0.215	0.19293	T	0.575	0.08654	T	0.968	0.56581	D	0.452	0.46163	P	0.096254	0.20085	N	0.261257	0.605196	0.30907	N	1.24	0.30952	L	1.46	0.32238	T	0.47	0.03090	N	0.325	0.36569	-1.1222	0.02197	T	0.003	0.00994	T	10	0.006879717	0.00156	T	.	.	.	0.098	0.28162	.	.	0.386234084001	0.38240	0.48112459390252194	0.48032	.	.	0.894849002361	0.95850	D	0.013539	0.11689	T	-0.46439	0.00922	T	-0.439985	0.28810	T	0.0531151546423992	0.06039	T	0.561144	0.19645	T	0.19138479	0.40763	0.24172303	0.49576	0.19138479	0.40763	0.24172303	0.49575	-5.351	0.40445	T	.	.	0.085	0.14431	B	.;.	.;.	2.922365	0.38803	20.8	0.9423790608236714	0.24499	0.94754	0.62215	D	AEFDBCI	0.413626	0.48322	N	-0.0920958920621304	0.37738	2.199965	-0.0951735304783025	0.35588	2.060809	0.998556655596953	0.37186	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.19	3.19	0.35720	1.171000	0.31505	8.183000	0.76780	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.612000	0.31691	1.0:0.0:0.0:0.0	10.118	0.41774	560	0.71333	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	568.98	19	chr1	50419077	.	A	T	568.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.976e+00;DP=621;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-2.008e+00;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,25:43:99:0|1:50419077_A_T:583,0,469:50419077	20	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	13423.2	21	chr1	50419106	.	G	*,A	13423.2	.	AC=12,30;AF=0.286,0.714;AN=42;BaseQRankSum=-4.990e-01;DP=670;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=12,30;MLEAF=0.286,0.714;MQ=59.92;MQRankSum=0.00;QD=23.55;ReadPosRankSum=-7.700e-01;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,45:45:99:1|1:50419077_A_T:1722,1722,1722,135,135,0:50419077	0	2	0	0
chr1	54702160	54702160	G	T	exonic	MROH7	.	nonsynonymous SNV	MROH7:NM_001291332:exon18:c.G1910T:p.R637L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.415	B	0.105	B	0.611	N	1.000	N	1.1	L	4.79	T	-0.975	T	0.024	T	0.217	0.765	8.045	1.18	0.067	0.401	4.267	0.024	0.00742189468936	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370697369	4.115e-06	4.788e-06	2.729e-06	5.516e-06	7.015e-05	1.48e-06	9.7e-07	3.016e-05	2.052e-05	0	0	0	0	0	0	0	0	7.015e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.653	0.39575	T	0.026	0.55759	D	0.415	0.35204	B	0.105	0.31087	B	0.610580	0.05699	N	1.194740	1	0.08975	N	2.015	0.55033	M	4.79	0.01980	T	-2.07	0.47344	N	0.441	0.47949	-0.9750	0.36125	T	0.024	0.10103	T	10	0.078143656	0.12418	T	0.007422	0.19685	T	0.024	0.04979	0.464	0.53404	0.0138822411134	0.00435	0.27172448853207465	0.27085	0.189719429744	0.21289	0.241123124957	0.02892	T	0.004631	0.04039	T	-0.445252	0.01204	T	-0.640681	0.09619	T	0.111846603453159	0.13612	T	0.768323	0.39714	T	0.055197123	0.10693	0.07115494	0.15202	0.055197123	0.10693	0.07115494	0.15201	-5.885	0.45307	T	.	.	0.166	0.36574	B	.;.	.;.	1.034977	0.14151	10.73	0.98661480850491223	0.44345	0.04251	0.09779	N	AEFDBI	0.164660	0.29107	N	-1.02791719724537	0.08027	0.3749803	-1.06351743949056	0.08427	0.4143253	7.7653203496821E-4	0.07793	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.12	1.18	0.20058	0.446000	0.21410	0.428000	0.18294	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.273:0.169:0.5579:0.0	4.267	0.10216	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	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	581.98	38	chr1	54702160	.	G	T	581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.070e-01;DP=829;ExcessHet=0.0000;FS=1.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=2.42;SOR=0.527	GT:AD:DP:GQ:PL	0/1:24,26:50:99:596,0,543	20	0	1	0
chr1	55039879	55039879	-	CTGCTG	exonic	PCSK9	.	nonframeshift insertion	PCSK9:NM_174936:exon1:c.42_43insCTGCTG:p.L23_G24insLL,	Hypercholesterolemia, familial, 3	.	4	1235	252	23	8	306	0.107659	.	.	260592	not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|not_specified|Hypercholesterolemia,_autosomal_dominant,_3|Familial_hypercholesterolemia	MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	.	0.0022	0	0.0071	0	0	0.0043	0	0.0005	0.0009961	154	154602	rs35574083	0.0033	0.0032	0.0033	0.0032	0.0036	0.0032	0.0032	0.0034	0.0033	0.0006	0.0028	0.0083	5.416e-05	0.0041	0.0036	0.0035	0.0036	0.0009	0.0027	0.0027	0.0028	0.0026	0.0037	0.0025	0.0024	0.0029	0.0027	0.0010	0.0132	0.0037	0.0101	0	0.0031	0	0.0032	0.0043	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	9159.26	78	chr1	55039879	.	A	ACTG,ACTGCTG	9159.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=0.224;DP=1096;ExcessHet=1.7912;FS=0.533;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=20.63;ReadPosRankSum=1.11;SOR=0.729	GT:AD:DP:GQ:PL	0/1:35,52,0:87:99:2078,0,1306,2183,1462,3646	15	0	5	0
chr1	56707684	56707684	G	A	exonic	PRKAA2	.	nonsynonymous SNV	PRKAA2:NM_006252:exon9:c.G1630A:p.A544T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.697	P	0.411	B	0.000	D	1.000	D	1.79	L	-0.83	T	-0.253	T	0.415	T	0.658	4.785	26.9	5.99	2.840	9.476	20.478	0.362	0.0419340779857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32453	T	0.063	0.45110	T	0.697	0.41767	P	0.411	0.44827	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	-0.83	0.74159	T	-1.67	0.39887	N	0.68	0.68690	-0.2529	0.76281	T	0.415	0.76245	T	10	0.69721746	0.72219	D	0.041934	0.60196	D	0.362	0.68230	0.407	0.44066	0.911861285934	0.91098	0.7810356495451304	0.78054	1.52497149867	0.87483	0.68064904213	0.64362	T	0.35625	0.72313	T	0.140625	0.68384	D	-0.0357782	0.67984	D	0.989046156406403	0.79308	D	0.954605	0.82717	D	0.68887156	0.77450	0.4936967	0.70716	0.68887156	0.77452	0.4936967	0.70717	-9.121	0.68472	D	.	.	0.793	0.76947	P	.;.	.;.	4.502944	0.70449	25.5	0.99861054994046083	0.93911	0.99348	0.94841	D	AEFDBI	0.869780	0.79046	D	0.636484300271477	0.75495	6.316407	0.730252814636135	0.84676	8.358683	0.999999999998805	0.74766	0.632932	0.41330	0	0.59043	0.45803	0	0.601832	0.32385	0	0.620846	0.47308	0	.	.	5.99	5.99	0.97299	9.602000	0.97623	11.882000	0.98861	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.478	0.99191	897	0.25382	5'-AMP-activated protein kinase catalytic subunit alpha-2, C-terminal;5'-AMP-activated protein kinase catalytic subunit alpha-2, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1950.98	34	chr1	56707684	.	G	A	1950.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.577e+00;DP=830;ExcessHet=0.0000;FS=2.222;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=0.388;SOR=0.501	GT:AD:DP:GQ:PL	0/1:64,79:143:99:1965,0,1632	20	0	1	0
chr1	74472097	74472097	T	C	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon4:c.A1429G:p.I477V	.	.	429	1086	6	1	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.005	N	1.000	D	.	.	0.76	T	-0.949	T	0.090	T	0.087	1.733	11.75	3.66	0.492	0.482	2.357	0.062	0.0319734591994	.	0.00359425	0.0050	0.0010	0.0068	0	0.0018	0.0073	0	0.0048	0.001533	237	154602	rs61729305	0.0059	0.0053	0.0059	0.0058	0.0080	0.0057	0.0056	0.0077	0.0076	0.0015	0.0026	0.0030	0	0.0024	0.0022	0.0080	0.0064	0.0046	0.0047	0.0047	0.0048	0.0046	0.0081	0.0044	0.0043	0.0075	0.0073	0.0012	0.0099	0.0035	0.0023	0.0002	0.0017	0	0.0081	0.0047	0.0035	.	.	.	0.574	0.08685	T	.	.	.	.	.	.	0.004547	0.33627	N	0.205299	1	0.81001	D	.	.	.	0.39	0.57419	T	.	.	.	0.097	0.07811	-0.9486	0.41211	T	0.090	0.34628	T	7	0.0049051046	0.00105	T	0.031973	0.53925	D	.	.	.	.	0.200317383148	0.19677	0.005490662921900084	0.00519	.	.	.	.	.	0.001517	0.00960	T	-0.561082	0.00250	T	-0.5729	0.15184	T	0.0195086368587922	0.00655	T	0.312169	0.06100	T	0.020979108	0.00678	0.047809146	0.06966	0.020979108	0.00678	0.047809146	0.06965	-2.717	0.07447	T	.	.	0.071	0.03925	B	.	.	1.283606	0.16839	12.79	0.93930635729086343	0.23978	0.58730	0.30721	D	AEFI	0.123844	0.23964	N	-0.0513275220994506	0.39544	2.333618	0.00791451541929739	0.40080	2.38643	0.00132160600994955	0.08445	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.99	3.66	0.41111	0.473000	0.21843	0.943000	0.22867	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.2588:0.072:0.1344:0.5348	2.357	0.04035	811	0.42639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	951.98	36	chr1	74472097	.	T	C	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.702;DP=903;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.58;ReadPosRankSum=0.258;SOR=0.639	GT:AD:DP:GQ:PL	0/1:73,38:111:99:966,0,2060	20	0	1	0
chr1	74472163	74472163	G	T	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon4:c.C1363A:p.P455T	.	.	433	1082	6	1	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.015	N	1.000	D	.	.	0.63	T	-0.960	T	0.108	T	0.058	0.643	7.452	0.85	0.134	1.530	3.903	0.028	0.0257575540798	.	0.00359425	0.0049	0.0011	0.0068	0	0.0018	0.0070	0	0.0048	0.0015136	234	154602	rs61729310	0.0058	0.0052	0.0058	0.0058	0.0079	0.0056	0.0056	0.0076	0.0075	0.0015	0.0026	0.0030	0	0.0024	0.0022	0.0079	0.0064	0.0045	0.0047	0.0047	0.0048	0.0046	0.0080	0.0044	0.0043	0.0075	0.0073	0.0011	0.0099	0.0035	0.0023	0.0002	0.0017	0	0.0080	0.0047	0.0035	0.004	0.65419	D	0.048	0.48594	D	.	.	.	.	.	.	0.015308	0.28282	N	0.261873	1	0.81001	D	.	.	.	0.63	0.53088	T	-0.51	0.15986	N	0.075	0.04913	-0.9603	0.39124	T	0.108	0.39197	T	7	0.006281346	0.00142	T	0.025758	0.48712	D	0.028	0.06331	.	.	0.128392430309	0.12331	0.05114640694569114	0.05056	.	.	.	.	.	0.006838	0.06266	T	-0.59295	0.00161	T	-0.618676	0.11289	T	0.0295997138996185	0.01929	T	0.512749	0.16428	T	0.038801152	0.05237	0.044930782	0.05932	0.038801152	0.05237	0.044930782	0.05931	-3.497	0.16389	T	.	.	0.075	0.05404	B	.	.	0.686234	0.10548	7.258	0.94582537496475061	0.25126	0.71561	0.35066	D	AEFI	0.154549	0.27959	N	-0.482390221116792	0.22658	1.211404	-0.499432534366444	0.22170	1.202838	3.60166759752151E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.88	0.85	0.18119	1.547000	0.35798	0.308000	0.17052	-0.949000	0.02041	1.000000	0.71638	0.016000	0.20520	0.163000	0.20749	0.3341:0.0:0.4676:0.1984	3.903	0.08671	811	0.42639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	755.98	36	chr1	74472163	.	G	T	755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.11;ReadPosRankSum=-5.310e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/1:53,30:83:99:770,0,1408	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|1:36,9,0:45:37:0|1:77935995_G_C:37,0,1348,144,1373,1517:77935995	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|1:36,9,0:45:37:0|1:77935995_G_C:37,0,1348,144,1373,1517:77935995	11	0	4	2
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,148,0,0:317:99:.:.:5390,0,6316,5898,6763,12662,5898,6763,12662,12662	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,148,0,0:317:99:.:.:5390,0,6316,5898,6763,12662,5898,6763,12662,12662	0	12	6	0
chr1	90017368	90017368	T	G	exonic	ZNF326	.	nonsynonymous SNV	ZNF326:NM_181781:exon6:c.T360G:p.D120E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.026	B	0.027	B	0.000	D	1.000	N	-0.46	N	1.07	T	-0.959	T	0.010	T	0.256	0.019	4.114	0.171	0.386	0.255	4.962	0.074	0.00321357897636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.02795	T	0.026	0.19406	B	0.027	0.21085	B	0.000244	0.46924	D	0.180429	0.672312	0.31525	N	-0.245	0.03879	N	1.07	0.39586	T	1.53	0.00747	N	0.272	0.34228	-0.9591	0.39349	T	0.010	0.03811	T	10	0.045364827	0.03599	T	0.003214	0.07057	T	0.074	0.21613	0.477	0.55502	0.151262610727	0.14761	0.23807760985959797	0.23721	0.417156267166	0.42343	0.600036740303	0.52910	T	0.024111	0.18278	T	-0.183127	0.23273	T	-0.500826	0.22262	T	0.433837443590164	0.30202	T	0.792821	0.43457	T	0.027692176	0.01998	0.035208154	0.02730	0.027692176	0.01998	0.035208154	0.02729	-2.616	0.06625	T	.	.	0.219	0.44910	B	.;.	.;.	1.835488	0.23322	15.97	0.67310532221741504	0.08317	0.73573	0.35988	D	AEBI	0.118130	0.23113	N	-0.752437775536872	0.14566	0.7267258	-0.544034569177615	0.20964	1.131899	0.102893002400108	0.16430	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.48	0.171	0.14312	0.260000	0.18192	1.573000	0.27428	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	1.000000	0.97212	0.1756:0.3256:0.0:0.4988	4.962	0.13419	673	0.60677	Zinc finger C2H2 AKAP95-type;Zinc finger C2H2 AKAP95-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	769.98	39	chr1	90017368	.	T	G	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.043;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-1.912e+00;SOR=0.614	GT:AD:DP:GQ:PL	0/1:31,34:65:99:784,0,710	20	0	1	0
chr1	92180595	92180595	A	G	exonic	BTBD8	.	nonsynonymous SNV	BTBD8:NM_015237:exon6:c.A1373G:p.H458R	.	.	430	1071	21	0	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.533	N	1.000	N	1.245	L	3.57	T	-0.907	T	0.003	T	0.014	-2.362	0.004	-9.21	-1.962	-0.714	8.760	0.033	0.00760635437972	0.0002	0.00159744	0.0027	0	0	0	0	0.0013	0.0042	0.0058	0.0004851	75	154602	rs61741973	0.0007	0.0007	0.0005	0.0009	0.0165	0.0007	0.0007	0.0138	0.0128	6.333e-05	0.0004	0.0022	0	0	0.0165	0.0002	0.0010	0.0073	0.0005	0.0005	0.0004	0.0006	0.0081	0.0004	0.0003	0.0061	0.0054	7.218e-05	0	6.536e-05	0.0020	0.0002	0	0	0.0003	0.0009	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	0.532872	0.11619	N	0.790971	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9069	0.47227	T	0.003	0.00929	T	10	0.0044327974	0.00091	T	0.007606	0.20192	T	0.033	0.08068	.	.	0.0138822411134	0.00435	0.10000362729047764	0.09931	.	.	0.238763928413	0.02680	T	0.008553	0.07843	T	-0.776713	0.00012	T	-0.884885	0.00615	T	0.0113037481900436	0.00167	T	0.355164	0.11736	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02458	B	.;.;.;.	.;.;.;.	-1.484470	0.00304	0.005	0.18901051738063332	0.00615	0.02180	0.06383	N	AEFGBI	0.034787	0.04369	N	-1.69319894233088	0.00866	0.03747364	-1.80467435958165	0.00744	0.03317401	0.738082412563993	0.23165	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.49	-9.21	0.00578	-0.750000	0.04913	-3.608000	0.02661	-0.549000	0.04906	0.000000	0.06391	0.000000	0.08366	0.165000	0.20815	0.2759:0.0:0.5178:0.2063	8.760	0.33829	730	0.54327	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3195.11	73	chr1	92180595	.	A	G	3195.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.246e+00;DP=1501;ExcessHet=0.1072;FS=0.931;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=2.12;SOR=0.613	GT:AD:DP:GQ:PL	0/1:53,66:119:99:1589,0,1294	19	0	2	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|1:89,13:102:29:0|1:99884396_T_C:29,0,3352:99884396	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|1:89,13:102:28:0|1:99884396_T_C:28,0,3378:99884396	6	0	15	0
chr1	103533845	103533845	-	A	exonic	RNPC3	.	frameshift insertion	RNPC3:NM_017619:exon3:c.347dupA:p.R120Kfs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	229.63	54	chr1	103533844	.	GA	G,GAA	229.63	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-4.500e-01;DP=1214;ExcessHet=1.1607;FS=2.736;InbreedingCoeff=-0.1291;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=-4.790e-01;SOR=0.413	GT:AD:DP:GQ:PL	0/1:46,6,2:54:6:6,0,1091,147,1131,1812	16	0	4	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	0/1:23,20,0:43:99:761,0,906,830,966,1796	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	0/1:23,20,0:43:99:761,0,906,830,966,1796	1	11	8	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.727	P	0.3	B	0.001	D	0.994	D	1.305	L	-4.19	D	0.589	D	0.723	D	0.404	2.090	12.95	4.88	2.425	3.659	11.857	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2812	1718.31	106	chr1	110222977	.	C	G	1718.31	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.042e+00;DP=2418;ExcessHet=4.7172;FS=80.588;InbreedingCoeff=-0.3827;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.44;ReadPosRankSum=1.63;SOR=11.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,35:158:99:0|1:110222977_C_G:607,0,4670:110222977	7	0	9	5
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	0.000	D	1.000	D	2.695	M	-4.48	D	1.099	D	0.949	D	0.846	3.899	19.82	4.88	2.425	7.818	18.385	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1638.75	109	chr1	110222980	.	C	G	1638.75	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.817e+00;DP=2206;ExcessHet=3.5521;FS=69.990;InbreedingCoeff=-0.2544;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.50;ReadPosRankSum=1.87;SOR=10.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,35:161:99:0|1:110222977_C_G:598,0,4747:110222977	12	0	8	1
chr1	110222982	110222982	C	T	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C697T:p.L233F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.995	D	0.000	D	1.000	D	0.945	L	-4.56	D	1.064	D	0.913	D	0.593	4.139	21.4	4.88	2.425	7.818	18.385	0.748	0.257215744657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.036	0.52060	D	0.092	0.67487	B	0.248	0.65830	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	-4.56	0.97772	D	-2.92	0.61129	D	0.71	0.71321	1.064	0.98441	D	0.913	0.97120	D	10	0.82669085	0.81846	D	0.257216	0.89360	D	0.748	0.91328	0.51	0.60693	0.998798673634	0.99879	0.8353798834876841	0.83497	2.2713391689	0.96273	0.879670739174	0.93916	D	0.684204	0.90757	D	0.250026	0.78605	D	0.121369	0.78326	D	0.976836979389191	0.71561	D	0.976702	0.93381	D	0.6352031	0.74575	0.47092855	0.69323	0.6352031	0.74577	0.47092855	0.69323	-10.787	0.78477	D	.	.	0.984	0.92685	P	.;.;.	.;.;.	4.840138	0.79009	27.0	0.99871710190157814	0.94902	0.98768	0.86602	D	AEFDGBI	0.882603	0.81085	D	0.464917858942242	0.65055	4.774502	0.528151035303576	0.69893	5.425667	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	6.148000	0.71557	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	560.11	39	chr1	110222982	.	C	T	560.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.570e+00;DP=1251;ExcessHet=0.1072;FS=98.421;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.83;ReadPosRankSum=1.62;SOR=7.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:126,13:151:99:.:.:480,0,4752	19	0	2	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.033	B	0.015	B	0.000	D	0.999	D	-1.545	N	.	.	-0.951	T	0.015	T	0.585	0.535	6.895	5.89	2.787	4.426	15.011	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	6766.73	121	chr1	114732648	.	C	G	6766.73	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.661e+00;DP=3409;ExcessHet=54.0936;FS=245.736;InbreedingCoeff=-0.9995;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.26;ReadPosRankSum=1.31;SOR=12.755	GT:AD:DP:GQ:PL	0/1:124,74:202:99:669,0,1758	0	0	21	0
chr1	120449302	120449302	C	-	exonic	NBPF8	.	frameshift deletion	NBPF8:NM_001037501:exon9:c.888delC:p.Q298Sfs*18,	.	.	412	1091	19	0	0	19	0.00863244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319313670	0.0009	0.0012	0.0008	0.0010	0.0052	0.0009	0.0008	0.0039	0.0038	0.0002	0.0006	0.0025	2.519e-05	0	0.0052	0.0007	0.0010	0.0043	0.0008	0.0009	0.0007	0.0009	0.0062	0.0007	0.0006	0.0045	0.0039	0.0002	0	0.0010	0.0017	0	9.422e-05	0.0034	0.0009	0.0005	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1063.94	271	chr1	120449301	.	AC	A	1063.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.55;DP=2004;ExcessHet=0.0000;FS=3.080;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.93;MQRankSum=-2.475e+00;QD=3.07;ReadPosRankSum=-1.338e+00;SOR=0.925	GT:AD:DP:GQ:PL	0/1:282,65:347:99:1078,0,8135	20	0	1	0
chr1	120830484	120830484	C	T	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon20:c.C2597T:p.S866L,	.	.	804	706	12	0	0	12	0.00842697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.063	12.85	.	-0.414	0.768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268864713	0.0018	0.0032	0.0019	0.0018	0.0020	0.0017	0.0017	0.0019	0.0018	0.0007	0.0004	0.0021	0	0.0042	0.0012	0.0020	0.0016	0.0016	0.0020	0.0032	0.0017	0.0024	0.0043	0.0018	0.0017	0.0024	0.0018	0.0008	0.0017	0.0009	0.0016	0	0.0066	0	0.0021	0.0022	0.0043	.	.	.	0.285	0.31427	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.165	0.17416	-1.0502	0.14341	T	0.010	0.03582	T	9	0.02374658	0.00631	T	0.001392	0.02037	T	.	.	.	.	0.185906805712	0.18197	0.008888954867445117	0.00851	.	.	.	.	.	.	.	.	-0.345525	0.05015	T	-0.734099	0.04145	T	0.1366984648069	0.15988	T	0.830817	0.54490	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.40114	B	.;.;.;.;.	.;.;.;.;.	0.058936	0.04704	1.342	0.24533630855159475	0.01089	0.00012	0.00170	N	AEFI	0.029886	0.02902	N	-0.81487840899404	0.12930	0.6335323	-1.12121065501673	0.07296	0.3543358	0.00728602839773751	0.11429	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.14	-2.28	0.06438	-2.140000	0.01387	-5.240000	0.01793	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2612:0.2911:0.4477	2.403	0.04138	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	39.98	15	chr1	120830484	.	C	T	39.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.804;DP=652;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=32.69;MQRankSum=0.122;QD=1.21;ReadPosRankSum=0.304;SOR=0.507	GT:AD:DP:GQ:PL	0/1:27,6:33:54:54,0,602	20	0	1	0
chr1	121382843	121382843	A	G	exonic	SRGAP2C	.	nonsynonymous SNV	SRGAP2C:NM_001271872:exon8:c.A971G:p.D324G	.	.	683	837	2	0	0	2	0.00119332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.964e-06	1.59e-06	0	3.664e-06	0.0004	0	0	.	.	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	0.92317	.	.	.	.	.	.	.	0.8682883	0.86083	D	.	.	.	.	.	.	.	0.173771789658	0.16945	0.8009779252245498	0.80051	.	.	.	.	.	0.426986	0.77661	T	0.532045	0.95201	D	0.526469	0.95130	D	.	.	.	0.999138	0.99663	D	0.20690127	0.42880	0.46359885	0.68862	0.20690127	0.42880	0.46359885	0.68862	-11.267	0.81102	D	.	.	0.867	0.80729	P	.;.	.;.	5.173476	0.86723	29.0	0.92405727635104196	0.21819	0.95933	0.66783	D	AEFI	.	.	.	.	.	.	.	.	.	0.0403644257333553	0.14436	0.322412	0.05557	0	0.31918	0.05746	0	0.331037	0.05861	0	0.370666	0.05837	0	0.777903	0.46011	2.33	2.33	0.27981	9.118000	0.93675	11.279000	0.91668	0.351000	0.19951	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	8.239	0.30805	976	0.04745	F-BAR domain;F-BAR 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	0.05263	320.35	33	chr1	121382843	.	A	G	320.35	.	AC=2;AF=0.053;AN=38;DP=247;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6875;MLEAC=2;MLEAF=0.053;MQ=36.33;QD=26.70;SOR=1.445	GT:AD:DP:GQ:PL	1/1:0,12:12:36:346,36,0	18	1	0	2
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	2354.68	101	chr1	145872713	.	C	G	2354.68	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.628e+00;DP=2761;ExcessHet=20.9642;FS=143.279;InbreedingCoeff=-0.5874;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.894;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,42:146:99:0|1:145872713_C_G:376,0,3106:145872713	5	0	16	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	2100.21	101	chr1	145872714	.	C	G	2100.21	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-4.135e+00;DP=2664;ExcessHet=14.4320;FS=138.726;InbreedingCoeff=-0.4963;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=1.14;ReadPosRankSum=0.919;SOR=11.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,42:146:99:0|1:145872713_C_G:376,0,3106:145872713	6	0	14	1
chr1	146067235	146067235	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon85:c.G10582A:p.E3528K	.	.	651	848	21	2	0	25	0.0145264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.713	P	0.678	P	.	.	1.000	N	0.55	N	4.03	T	-1.014	T	0.003	T	0.362	-2.093	0.006	.	-2.037	-2.442	.	0.051	.	.	.	0.3095	0.25	0	0	.	0.3557	0.5	0.25	0.0018826	49	26028	rs782346895	0.0009	0.0030	0.0007	0.0010	0.0046	0.0008	0.0008	0.0040	0.0037	0.0016	0.0017	0.0002	0.0046	0.0005	0.0010	0.0004	0.0011	0.0008	0.0005	0.0017	0.0005	0.0005	0.0016	0.0004	0.0004	0.0007	0.0006	0.0010	0	0.0006	0	0.0016	0.0002	0	0.0001	0.0007	0.0011	.	.	.	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.25867	.	.	.	.	.	.	.	0.028234512	0.00958	T	.	.	.	.	.	.	.	.	.	0.008707865764252615	0.00834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676832	0.35895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.52285	B	.;.	.;.	-0.114190	0.03558	0.685	.	.	.	.	.	.	0.017718	0.00484	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.877000	0.04305	0.000000	0.13247	.	.	0.001000	0.13787	0.033000	0.21346	.	.	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.09524	552.03	20	chr1	146067235	.	C	T	552.03	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.114e+00;DP=529;ExcessHet=0.6776;FS=6.040;InbreedingCoeff=-0.1073;MLEAC=4;MLEAF=0.095;MQ=43.46;MQRankSum=-3.188e+00;QD=3.94;ReadPosRankSum=-5.070e-01;SOR=0.336	GT:AD:DP:GQ:PL	0/1:42,10:52:96:96,0,1372	17	0	4	0
chr1	149079127	149079127	C	G	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon4:c.G373C:p.E125Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.007	B	0.002	B	.	.	1.000	N	.	.	4.39	T	-0.954	T	0.001	T	0.321	-3.071	0.001	-1.04	-0.770	-0.311	.	0.025	.	.	.	0.0644	0.0770	0.0487	0.0410	0.0303	0.0633	0.0866	0.0969	0.0106808	278	26028	.	8.799e-07	7.127e-05	1.795e-06	0	1.217e-06	0	0	.	.	0	0	0	0	0	0	1.217e-06	0	0	6.917e-05	0.0006	9.41e-05	4.275e-05	0.0002	3.691e-05	2.843e-05	6.773e-05	4.555e-05	0.0002	0	0	0	0.0002	9.903e-05	0	1.515e-05	0	0.0002	.	.	.	0.199	0.27679	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.05414	-0.9539	0.40292	T	0.001	0.00318	T	6	0.0030939877	0.00051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547456741333	0.45498	T	.	.	.	-0.147531	0.28698	T	-0.449695	0.27730	T	0.00119219371206561	0.00012	T	0.891311	0.66975	D	0.099779524	0.23552	0.08344974	0.19124	0.099779524	0.23552	0.08344974	0.19124	-9.559	0.71226	D	.	.	0.079	0.36869	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.030248	0.04496	1.203	0.057885152920866254	0.00015	0.00003	0.00079	N	AEFI	0.013383	0.00176	N	-1.68197913367445	0.00907	0.03928493	-1.79824352941992	0.00765	0.03410724	1.92802502388975E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	0.521	-1.04	0.09555	-0.551000	0.06117	-1.586000	0.05115	-1.150000	0.01427	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	35.49	40	chr1	149079127	.	C	G	35.49	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.737e+00;DP=586;ExcessHet=0.3300;FS=43.974;InbreedingCoeff=-0.0799;MLEAC=2;MLEAF=0.050;MQ=34.99;MQRankSum=-2.131e+00;QD=0.51;ReadPosRankSum=-1.054e+00;SOR=5.133	GT:AD:DP:GQ:PL	0/1:16,2:18:9:9,0,573	17	0	3	1
chr1	149517471	149517471	A	T	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon46:c.A5621T:p.Q1874L,	.	.	816	705	1	0	0	1	0.000708717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185344434	0.0011	0.0010	0.0013	0.0009	0.0091	0.0010	0.0010	0.0076	0.0071	0	0	0.0011	0.0091	0.0054	0	0.0002	0.0019	0.0009	0.0004	0.0010	0.0003	0.0005	0.0020	0.0002	0.0001	3.174e-05	1.31e-05	0	0	0	0.0015	0.0020	0.0034	0	0.0002	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.098	0.07949	-0.9281	0.44415	T	0.006	0.02168	T	4	0.024324328	0.00665	T	9.58E-4	0.00980	T	.	.	.	.	0.0806252709748	0.07271	.	.	.	.	.	.	.	0.010577	0.09538	T	-0.20922	0.19490	T	-0.538307	0.18463	T	0.0881984476856418	0.11002	T	0.853215	0.53849	D	0.09412004	0.22122	0.25445613	0.51111	0.09412004	0.22122	0.25445613	0.51110	-10.94	0.79328	D	.	.	.	.	.	.	.	1.737957	0.22118	15.49	0.64021622242399012	0.07380	0.00373	0.01896	N	AEFI	.	.	.	-0.976898481875597	0.09099	0.4292426	-1.22424766267977	0.05523	0.2633597	1.45338730776636E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.811000	0.26855	-15.477000	0.00355	.	.	0.036000	0.20778	0.000000	0.08366	.	.	.	.	.	804	0.43891	Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	248.73	33	chr1	149517471	.	A	T	248.73	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=408;ExcessHet=0.0000;FS=5.301;InbreedingCoeff=-0.0289;MLEAC=1;MLEAF=0.026;MQ=37.57;MQRankSum=-4.386e+00;QD=6.38;ReadPosRankSum=1.80;SOR=1.899	GT:AD:DP:GQ:PL	0/1:26,13:39:99:262,0,608	18	0	1	2
chr1	150473141	150473141	C	T	exonic	RPRD2	.	nonsynonymous SNV	RPRD2:NM_001297674:exon10:c.C4115T:p.P1372L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.16	B	0.06	B	0.040	N	1.000	D	0.345	N	0.94	T	-1.089	T	0.028	T	0.231	1.509	10.99	3.54	1.036	1.611	6.794	0.035	0.00650025399982	0.0002	.	8.314e-05	0	0	0.0006	0	4.52e-05	0.0022	0	6.47e-05	10	154602	rs369152525	3.558e-05	3.557e-05	2.451e-05	4.676e-05	0.0006	2.763e-05	2.502e-05	0.0004	0.0004	0	0	0.0002	0.0006	0	0	1.439e-05	9.939e-05	2.319e-05	4.596e-05	4.593e-05	3.854e-05	5.37e-05	0.0004	2.108e-05	1.526e-05	7.293e-05	3.03e-05	0	0	0	0	0.0004	0	0	4.41e-05	0	0.0004	0.003	0.68238	D	0.011	0.64786	D	0.16	0.28337	B	0.06	0.26717	B	0.039592	0.24153	N	0.395014	0.540086	0.31419	N	0.55	0.14455	N	0.94	0.43672	T	-1.84	0.43149	N	0.201	0.32037	-1.0887	0.05752	T	0.028	0.11926	T	10	0.043866336	0.03283	T	0.006	0.17129	T	0.035	0.08770	.	.	0.0675242888579	0.06100	0.3461243475387154	0.34526	0.217698442251	0.24293	0.446594148874	0.31478	T	0.023304	0.17814	T	-0.410387	0.01976	T	-0.507259	0.21597	T	0.0584424013723955	0.06921	T	0.741226	0.36032	T	0.06642623	0.14291	0.08423271	0.19361	0.06642623	0.14290	0.08423271	0.19361	-4.05	0.24549	T	.	.	0.090	0.12465	B	.;.	.;.	2.259363	0.28866	17.94	0.95054547439095494	0.26075	0.76675	0.37624	D	AEFBCI	.	.	.	-0.323738044313159	0.28249	1.556557	-0.189718431869534	0.31914	1.81058	0.273121819482342	0.18913	0.67177	0.52595	0	0.702456	0.74545	0	0.688494	0.62686	0	0.683762	0.67416	0	.	.	4.47	3.54	0.39650	1.545000	0.35775	4.014000	0.41189	0.599000	0.40250	0.978000	0.35038	0.999000	0.35428	0.991000	0.66497	0.3332:0.5808:0.0:0.0859	6.794	0.22898	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1479.98	38	chr1	150473141	.	C	T	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=881;ExcessHet=0.0000;FS=0.682;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-3.890e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1494,0,1614	20	0	1	0
chr1	150553575	150553575	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001288607:exon6:c.C584T:p.P195L	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	277171	ADAMTSL4-related_disorder|not_provided|Ectopia_lentis_2,_isolated,_autosomal_recessive	.|MedGen:C3661900|MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.957	D	0.223	B	.	.	1.000	N	0.805	L	0.09	T	-1.099	T	0.049	T	0.14	2.337	13.77	1.38	0.917	0.628	3.548	0.080	.	0.0017	0.00299521	0.0008	0.0077	8.639e-05	0.0012	0	7.493e-05	0.0011	6.057e-05	0.0007956	123	154602	rs139990606	0.0003	0.0003	0.0003	0.0003	0.0085	0.0003	0.0003	0.0077	0.0074	0.0085	0.0004	0.0002	0.0008	0	0.0017	4.227e-05	0.0008	5.797e-05	0.0021	0.0021	0.0021	0.0020	0.0071	0.0019	0.0018	0.0064	0.0062	0.0071	0	0.0009	0	0.0004	0	0	2.943e-05	0.0005	0.0004	0.004	0.65419	D	0.031	0.62352	D	0.814	0.48154	P	0.122	0.36167	B	.	.	.	.	1	0.08975	N	1.495	0.37439	L	-0.16	0.65378	T	-2.04	0.46842	N	0.342	0.41063	-1.0993	0.04177	T	0.049	0.20750	T	9	0.0045513213	0.00094	T	.	.	.	0.080	0.23350	.	.	0.764317863173	0.76217	0.4136307985109546	0.41279	0.161310925367	0.18205	0.377757012844	0.21938	T	0.007129	0.06547	T	-0.468299	0.00871	T	-0.44159	0.28629	T	0.0101449848829457	0.00137	T	0.574643	0.20620	T	0.045548607	0.07475	0.064311706	0.12871	0.045548607	0.07474	0.064311706	0.12871	-4.548	0.31512	T	0.3185897759273933	0.41670	0.079	0.12371	B	.;.;.;.	.;.;.;.	2.397519	0.30800	18.55	0.99121636102400645	0.53011	0.09418	0.15178	N	AEFGBCI	0.059500	0.11243	N	-0.554865975683006	0.20332	1.071003	-0.661756969249833	0.17921	0.9550472	0.999997490563558	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	4.54	1.38	0.21262	0.658000	0.24662	1.695000	0.28095	0.589000	0.31548	0.001000	0.13787	0.003000	0.18671	0.186000	0.21481	0.1672:0.5646:0.1639:0.1043	3.548	0.07391	114	0.95383	.;.;.;.	.	.	.	.	.	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	4426.98	90	chr1	150553575	.	C	T	4426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.19;DP=1847;ExcessHet=0.0000;FS=9.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=1.13;SOR=1.104	GT:AD:DP:GQ:PL	0/1:212,183:395:99:4441,0,4801	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|1:513,188,0:701:99:0|1:152308260_T_C:4103,0,17418,5643,17982,23625:152308260	10	0	10	0
chr1	152356170	152356170	C	T	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.G1616A:p.R539H,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.975	D	0.284	B	.	.	1.000	N	0	N	1.96	T	-1.002	T	0.009	T	0.053	1.300	10.25	2.17	0.481	0.590	8.220	0.062	0.00224247427571	7.7e-05	0.000399361	0.0001	9.61e-05	0	0.0001	0	8.99e-05	0	0.0003	0.0001035	16	154602	rs146826451	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0.0002	0	7.652e-05	0	0	0	0.0002	6.623e-05	0.0002	0.0001	0.0001	0.0001	8.073e-05	0.0008	6.517e-05	5.327e-05	0.0003	0.0002	7.235e-05	0	0	0	0.0002	0	0	0.0001	0	0.0008	0.128	0.26965	T	0.143	0.33219	T	0.975	0.58077	D	0.284	0.40463	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.96	0.22270	T	-0.52	0.16187	N	0.039	0.01274	-1.0018	0.29401	T	0.009	0.03359	T	9	0.02932924	0.01060	T	0.002242	0.04260	T	0.062	0.17934	.	.	0.224531998449	0.22054	0.06418679163347962	0.06357	0.0286366123003	0.02943	0.328885793686	0.14765	T	0.003125	0.02525	T	-0.55522	0.00271	T	-0.734988	0.04104	T	0.0329353256251841	0.02460	T	0.251575	0.03811	T	0.050055444	0.08985	0.045501113	0.06137	0.050055444	0.08984	0.045501113	0.06136	-2.002	0.03188	T	.	.	0.126	0.26794	B	.	.	1.827714	0.23222	15.93	0.82664128083105082	0.14310	0.11278	0.16527	N	AEFBCI	0.041804	0.06403	N	-0.636574827861413	0.17854	0.9222309	-0.759071453587636	0.15499	0.8154612	4.65471546857082E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.12	2.17	0.26736	0.417000	0.20934	.	.	0.429000	0.20894	0.091000	0.22601	0.000000	0.08366	0.807000	0.38039	0.0:0.8723:0.0:0.1277	8.220	0.30699	565	0.70868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	12060.98	195	chr1	152356170	.	C	T	12060.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.79;DP=3618;ExcessHet=0.0000;FS=1.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=1.35;SOR=0.880	GT:AD:DP:GQ:PL	0/1:411,444:855:99:12075,0,10502	20	0	1	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	10818.93	25	chr1	152910506	.	C	CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG,G,*	10818.93	.	AC=18,2,2;AF=0.474,0.053,0.053;AN=38;BaseQRankSum=-2.960e-01;DP=998;ExcessHet=1.5433;FS=1.193;InbreedingCoeff=-0.0466;MLEAC=19,2,2;MLEAF=0.500,0.053,0.053;MQ=55.69;MQRankSum=0.00;QD=23.78;ReadPosRankSum=-1.521e+00;SOR=0.793	GT:AD:DP:GQ:PL	1/1:0,22,0,0:22:63:916,63,0,918,66,921,918,66,921,921	3	4	8	2
chr1	154869726	154869726	-	GCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGC:p.Q80_P81insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:0,24,13,0,0,0,0:37:99:2180,503,356,917,0,781,1818,497,902,1720,1818,497,902,1720,1720,1818,497,902,1720,1720,1720,1818,497,902,1720,1720,1720,1720	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746397332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:0,24,13,0,0,0,0:37:99:2180,503,356,917,0,781,1818,497,902,1720,1818,497,902,1720,1720,1818,497,902,1720,1720,1720,1818,497,902,1720,1720,1720,1720	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:0,24,13,0,0,0,0:37:99:2180,503,356,917,0,781,1818,497,902,1720,1818,497,902,1720,1720,1818,497,902,1720,1720,1720,1818,497,902,1720,1720,1720,1720	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGC:p.Q80_P81insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:0,24,13,0,0,0,0:37:99:2180,503,356,917,0,781,1818,497,902,1720,1818,497,902,1720,1720,1818,497,902,1720,1720,1720,1818,497,902,1720,1720,1720,1720	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:0,24,13,0,0,0,0:37:99:2180,503,356,917,0,781,1818,497,902,1720,1818,497,902,1720,1720,1818,497,902,1720,1720,1720,1818,497,902,1720,1720,1720,1720	0	1	0	0
chr1	155247852	155247852	C	T	exonic	FAM189B	.	nonsynonymous SNV	FAM189B:NM_198264:exon9:c.G1649A:p.R550H	.	.	416	1101	5	0	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.997	D	0.000	D	0.608	N	0.55	N	3.89	T	-0.966	T	0.013	T	0.461	4.402	23.3	4.51	2.517	3.605	15.164	0.045	.	0.0002	0.00958466	0.0168	0	0.0020	0.0976	0.1083	0.0036	0.0408	0.0027	0.0038939	602	154602	rs2072648	0.0034	0.0034	0.0035	0.0034	0.0681	0.0034	0.0033	0.0658	0.0649	0	0.0002	0	0.0681	0.0319	0	0.0003	0.0030	0.0018	0.0045	0.0045	0.0027	0.0063	0.0441	0.0042	0.0041	0.0394	0.0376	9.62e-05	0	0.0003	0	0.0441	0.0350	0	0.0007	0.0028	0.0037	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.989	0.78396	D	0.000090	0.51296	D	0.000000	0.60774	0.30887	N	0.46	0.12951	N	3.89	0.03544	T	-0.6	0.22294	N	0.192	0.21056	-0.9662	0.37974	T	0.013	0.04890	T	10	0.0025410056	0.00038	T	.	.	.	0.183	0.45592	.	.	0.490352026379	0.48669	0.23767095121189646	0.23681	0.491203572652	0.47817	0.530864298344	0.43156	T	0.006491	0.05922	T	-0.492104	0.00633	T	-0.407583	0.32504	T	0.0761791280700723	0.09492	T	.	.	.	0.28279686	0.51315	0.2224794	0.47094	0.28279686	0.51315	0.2224794	0.47093	-4.786	0.34428	T	.	.	0.124	0.34316	B	.;.;.	.;.;.	3.858666	0.55945	23.7	0.99950056111878038	0.99938	0.95904	0.66656	D	AEFDBI	0.340160	0.43707	N	0.446140609408612	0.63985	4.643146	0.449401511807709	0.64677	4.728613	0.999877987710601	0.44625	0.706298	0.61202	0	0.709663	0.81188	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.51	4.51	0.54589	2.654000	0.46363	7.529000	0.59886	0.598000	0.34611	0.731000	0.28933	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	15.164	0.72489	41	0.97903	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1043.98	36	chr1	155247852	.	C	T	1043.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.361;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.84;ReadPosRankSum=0.121;SOR=0.821	GT:AD:DP:GQ:PL	0/1:27,35:62:99:1058,0,722	20	0	1	0
chr1	155900413	155900413	C	T	exonic	RIT1	.	nonsynonymous SNV	RIT1:NM_001256820:exon5:c.G527A:p.R176Q	Noonan syndrome 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1325132	Noonan_syndrome_8|Cardiovascular_phenotype|Noonan_syndrome_and_Noonan-related_syndrome	MONDO:MONDO:0014143,MedGen:C3809233,OMIM:615355,Orphanet:648|MedGen:CN230736|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.364	B	0.011	B	0.015	N	0.992	D	0	N	0.24	T	-1.025	T	0.068	T	0.422	3.603	18.34	5.13	2.665	3.632	18.359	0.068	0.00967116136273	.	.	5.767e-05	9.612e-05	0	0	0	1.499e-05	0	0.0003	4.53e-05	7	154602	rs764347644	3.079e-05	3.215e-05	2.042e-05	4.126e-05	0.0003	2.347e-05	2.095e-05	0.0002	0.0002	5.975e-05	0.0002	0	5.038e-05	0	0	6.296e-06	1.656e-05	0.0003	5.916e-05	5.911e-05	7.711e-05	4.036e-05	0.0006	3.078e-05	2.211e-05	0.0002	9e-05	7.241e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0006	0.028	0.50676	D	0.108	0.42976	T	0.364	0.33988	B	0.011	0.15521	B	0.015085	0.28344	N	0.277746	0.991843	0.41489	D	0	0.06538	N	-0.18	0.65747	T	-0.86	0.25118	N	0.319	0.42149	-1.0254	0.21952	T	0.068	0.27777	T	10	0.092461884	0.16284	T	0.009671	0.25267	T	0.068	0.19811	.	.	0.528917257038	0.52539	0.5239727958171749	0.52321	0.897822466154	0.70527	0.570383906364	0.48731	T	0.201293	0.55913	T	-0.234553	0.16052	T	-0.282547	0.46544	T	0.0307686324350781	0.02110	T	0.832517	0.50110	T	0.16185741	0.36223	0.100557	0.24048	0.16185741	0.36223	0.100557	0.24047	-6.998	0.54019	T	.	.	0.107	0.21987	B	.;.;.	.;.;.	3.577114	0.50415	22.9	0.99882151246915141	0.95813	0.85623	0.44775	D	AEFDGBHCI	0.324589	0.42643	N	-0.029855942118132	0.40507	2.406731	0.167347021362149	0.48069	3.02787	0.999999969834434	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	3.483000	0.52958	4.812000	0.45049	0.545000	0.25583	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.359	0.90313	67	0.97183	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1354.98	37	chr1	155900413	.	C	T	1354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.31;DP=843;ExcessHet=0.0000;FS=1.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=-1.420e-01;SOR=0.881	GT:AD:DP:GQ:PL	0/1:87,53:140:99:1369,0,2100	20	0	1	0
chr1	156815838	156815838	G	C	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001007792:exon1:c.G9C:p.E3D,	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	0.0003	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.004	B	0.004	B	.	.	1.000	N	0	N	-0.97	T	-0.994	T	0.083	T	0.07	2.192	13.29	2.36	0.744	0.242	6.516	0.177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	0.0001	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	-0.97	0.75670	T	-0.05	0.07736	N	0.05	0.02179	-0.9939	0.31591	T	0.083	0.32499	T	9	0.082740545	0.13688	T	0.007492	0.19872	T	0.177	0.44549	0.115	0.02372	0.51372946856	0.51013	.	.	.	.	.	.	.	.	.	.	-0.1645	0.26071	T	-0.474069	0.25079	T	0.22831466794014	0.21871	T	0.333767	0.07077	T	.	.	.	.	.	.	.	.	-3.709	0.19451	T	.	.	.	.	.	.	.	1.156672	0.15452	11.86	0.96680647164573041	0.30697	0.17383	0.19813	N	AEFGBCI	0.071145	0.14151	N	-0.913840955761567	0.10517	0.5029817	-0.907916361291049	0.11907	0.6094711	0.999995659671766	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.616487	0.41570	0	0.635259	0.50027	0	.	.	4.23	2.36	0.28258	0.251000	0.18025	0.143000	0.15197	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	0.2157:0.0:0.7843:0.0	6.516	0.21443	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	470.92	92	chr1	156815838	.	G	C	470.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.519e+00;DP=2320;ExcessHet=0.6776;FS=154.586;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.85;ReadPosRankSum=1.30;SOR=10.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,23:147:99:0|1:156815838_G_C:142,0,4380:156815838	17	0	4	0
chr1	156815839	156815839	G	C	splicing	NTRK1	NM_001007792:exon1:c.9+1G>C	.	.	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	N	.	.	.	.	.	.	.	.	.	0.675	7.612	1.31	0.316	-0.180	4.184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.214e-06	0.0002	1.09e-05	5.503e-06	2.988e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	2.988e-05	0	0	0	0	0	9.899e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996889	0.22868	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.368844	0.03652	T	-0.767596	0.02848	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.462841	0.18854	13.96	0.7159568618309291	0.09682	0.05745	0.11673	N	AEFGBCI	.	.	.	-0.545425066812517	0.20627	1.088785	-0.702648580947352	0.16894	0.8958837	0.999991161713536	0.74766	0.125411	0.03135	0	0.10752	0.03338	0	0.127595	0.03524	0	0.057669	0.00882	0	0.11426	0.24032	4.23	1.31	0.20837	-0.173000	0.09844	0.057000	0.14080	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.102000	0.18378	0.2167:0.2117:0.5716:0.0	4.184	0.09851	721	0.55360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1192.72	73	chr1	156815839	.	G	C	1192.72	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.688e+00;DP=2417;ExcessHet=3.5521;FS=187.374;InbreedingCoeff=-0.2541;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=1.23;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,23:147:99:0|1:156815838_G_C:142,0,4380:156815838	12	0	8	1
chr1	156815840	156815840	T	C	splicing	NTRK1	NM_001007792:exon1:c.9+2T>C	.	.	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	N	.	.	.	.	.	.	.	.	.	-0.537	1.561	-8.46	-2.163	-3.633	4.498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998468	0.22137	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.503101	0.00549	T	-0.960446	0.00231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.307850	0.02582	0.317	0.59977697429656796	0.06352	0.01792	0.05602	N	AEFGBCI	.	.	.	-1.08617453158003	0.06898	0.3188359	-1.35950259107624	0.03695	0.1728951	0.999999997695394	0.74766	0.125411	0.03135	0	0.10752	0.03338	0	0.127595	0.03524	0	0.057669	0.00882	0	0.112941	0.23894	4.23	-8.46	0.00822	-3.648000	0.00453	-5.931000	0.01549	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.092000	0.17891	0.0947:0.5942:0.1907:0.1204	4.498	0.11261	721	0.55360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	127.98	74	chr1	156815840	.	T	C	127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.697e+00;DP=1928;ExcessHet=0.0000;FS=80.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.880;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,23:147:99:0|1:156815838_G_C:142,0,4380:156815838	20	0	1	0
chr1	160951056	160951056	C	T	exonic	ITLN2	.	nonsynonymous SNV	ITLN2:NM_080878:exon4:c.G428A:p.S143N,	.	.	.	.	.	.	.	.	.	.	.	2355776	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.343	B	0.167	B	0.000	U	0.727	N	2.425	M	2.02	T	-1.086	T	0.037	T	0.103	0.984	9.018	3.94	2.159	1.388	13.825	0.079	0.0138581911057	0.0010	.	0.0006	9.61e-05	0.0003	0	0	0.0010	0	0	0.0006468	100	154602	rs147123034	0.0014	0.0014	0.0014	0.0013	0.0017	0.0013	0.0013	0.0016	0.0016	8.961e-05	0.0002	0	0	0.0003	0	0.0017	0.0011	0	0.0009	0.0009	0.0011	0.0008	0.0018	0.0008	0.0007	0.0016	0.0015	0.0003	0	0.0002	0	0	0	0	0.0018	0.0005	0	0.127	0.27080	T	0.162	0.31225	T	0.076	0.24253	B	0.049	0.25116	B	0.000005	0.62929	U	0.000000	0.72672	0.29869	N	2.12	0.58754	M	2.02	0.21119	T	-1.56	0.37759	N	0.314	0.35408	-1.0864	0.06155	T	0.037	0.16160	T	10	0.02404958	0.00649	T	0.013858	0.33577	T	0.079	0.23065	.	.	0.261217442401	0.25729	0.24266874881035477	0.24180	0.253798245579	0.27947	0.51683139801	0.41181	T	0.035435	0.23719	T	-0.557585	0.00262	T	-0.614242	0.11642	T	0.0459300362932537	0.04771	T	0.831917	0.49916	T	0.21740143	0.44222	0.18380553	0.41393	0.21740143	0.44222	0.18380553	0.41392	-6.106	0.47158	T	.	.	0.254	0.48827	B	.	.	1.865298	0.23694	16.12	0.97119082174794713	0.32447	0.19180	0.20559	N	AEFDGBI	0.179788	0.30708	N	-0.299820106616839	0.29156	1.614339	-0.338107943162816	0.26879	1.487622	0.999734210256563	0.42341	0.653281	0.48532	0	0.610034	0.51514	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	3.94	3.94	0.44807	1.409000	0.34288	1.456000	0.26643	0.465000	0.21702	0.038000	0.20882	0.011000	0.20116	0.012000	0.09680	0.0:1.0:0.0:0.0	13.825	0.62839	620	0.66037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2827.98	37	chr1	160951056	.	C	T	2827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.390e-01;DP=3247;ExcessHet=0.0000;FS=3.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=-1.073e+00;QD=10.96;ReadPosRankSum=-7.000e-01;SOR=0.913	GT:AD:DP:GQ:PL	0/1:139,119:258:99:2842,0,3438	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	0/1:157,43:205:99:176,0,3167	5	0	16	0
chr1	165743215	165743215	G	C	exonic	TMCO1	.	nonsynonymous SNV	TMCO1:NM_001256164:exon6:c.C471G:p.D157E	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.36	B	0.433	B	0.000	D	1.000	D	1.135	L	.	.	-0.981	T	0.105	T	0.858	4.070	20.9	4.33	0.955	5.327	11.107	0.283	0.00561825470216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.32355	T	0.36	0.33860	B	0.366	0.43381	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	.	.	.	0.873	0.94550	-0.9809	0.34794	T	0.105	0.38513	T	8	0.7058418	0.72732	D	0.005618	0.14530	T	0.283	0.60100	0.787	0.90993	0.162503812791	0.15892	0.8982099665768731	0.89791	0.898319418033	0.70545	0.813728034496	0.84064	D	0.273669	0.64613	T	0.317	0.84250	D	0.217429	0.84044	D	0.938554227352142	0.60927	D	0.90061	0.74830	D	0.30915323	0.53713	0.28407496	0.54403	0.30915323	0.53713	0.28407496	0.54403	.	.	.	.	.	0.877	0.81325	P	.;.;.;.;.;.	.;.;.;.;.;.	3.073706	0.41320	21.3	0.99659428855862664	0.77820	0.98300	0.81404	D	AEFGBI	0.671349	0.63812	D	-0.0328772314455231	0.40371	2.396296	0.0994292813719545	0.44519	2.732209	0.972625305894158	0.29387	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.17	4.33	0.51083	5.433000	0.66269	5.507000	0.48788	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1486:0.0:0.8514:0.0	11.107	0.47427	893	0.26510	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	218.51	112	chr1	165743215	.	G	C	218.51	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-3.149e+00;DP=1772;ExcessHet=1.7912;FS=225.654;InbreedingCoeff=-0.2159;MLEAC=6;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=0.715;SOR=11.634	GT:AD:DP:GQ:PL	0/1:48,19:67:58:58,0,773	12	0	6	3
chr1	167094904	167094904	G	A	exonic	STYXL2	.	nonsynonymous SNV	STYXL2:NM_001080426:exon2:c.G55A:p.E19K,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.892	P	0.113	B	0.559	N	0.977	N	0.55	N	3.81	T	-0.909	T	0.005	T	0.529	2.779	15.25	5.27	2.448	4.403	16.393	0.137	0.00671994760023	.	.	4.051e-05	0.0001	0	0	0	1.795e-05	0	0.0002	3.23e-05	5	154602	rs745821607	3.56e-05	3.557e-05	3.405e-05	3.716e-05	0.0003	2.764e-05	2.503e-05	6.094e-05	2.672e-05	0	0	0	0	0	0.0003	3.328e-05	9.944e-05	8.153e-05	1.973e-05	1.97e-05	2.571e-05	1.346e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.416e-05	0	0	0	0	0	0	2.941e-05	0	0	0.008	0.58626	D	0.096	0.39340	T	0.892	0.49086	P	0.113	0.31689	B	0.558742	0.11358	N	0.758643	0.977486	0.25309	N	1.78	0.46185	L	3.81	0.03754	T	-0.39	0.13611	N	0.33	0.48963	-0.9095	0.46916	T	0.005	0.01542	T	10	0.15486172	0.29201	T	0.00672	0.17756	T	0.137	0.36984	.	.	0.325263233342	0.32141	0.6024434552373764	0.60175	0.0800996958353	0.09014	0.426671028137	0.28753	T	0.00285	0.02248	T	-0.297664	0.08882	T	-0.428682	0.30084	T	0.125325334306217	0.14943	T	0.79822	0.44280	T	0.1952566	0.41307	0.13140833	0.31554	0.1952566	0.41307	0.13140833	0.31553	-4.145	0.25951	T	.	.	0.083	0.14201	B	.;.;.	.;.;.	2.718806	0.35558	19.93	0.99870873936547555	0.94815	0.64024	0.32274	D	AEFDBCI	0.596596	0.59070	D	0.0688983712646746	0.45016	2.765334	0.12843882621231	0.46011	2.854148	0.999999999568743	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.467745	0.07146	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	4.450000	0.59781	5.699000	0.49371	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.132000	0.19645	0.0:0.0:1.0:0.0	16.393	0.83384	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	0	0	0	0	0.02381	1363.98	42	chr1	167094904	.	G	A	1363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.671e+00;SOR=0.712	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1378,0,1049	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|2:37,0,28:65:99:1|0:175160788_C_CCTT:1037,1148,2647,0,1499,1415:175160788	2	5	6	0
chr1	179903964	179903964	A	C	splicing	TOR1AIP1	NM_001267578:exon6:c.743-2A>C;NM_015602:exon6:c.740-2A>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	D	.	.	.	.	.	.	.	.	.	0.905	8.680	3.14	1.963	2.159	6.691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878549	0.35703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.256537	0.13309	T	-0.606274	0.12289	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.233948	0.64133	24.7	0.80054460604190703	0.13023	0.68779	0.33932	D	AEFBI	.	.	.	0.627468078035172	0.74919	6.21507	0.341725435525886	0.58011	3.969298	0.389250930296501	0.20031	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.089874	0.02613	0	0.187005	0.29800	4.36	3.14	0.35196	2.145000	0.41830	4.074000	0.41688	0.756000	0.94297	0.987000	0.36337	0.918000	0.28264	0.821000	0.38685	0.7895:0.0:0.0:0.2105	6.691	0.22360	418	0.81602	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	528.34	34	chr1	179903964	.	A	C	528.34	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.394e+00;DP=1049;ExcessHet=1.7912;FS=123.470;InbreedingCoeff=-0.1775;MLEAC=6;MLEAF=0.150;MQ=59.88;MQRankSum=0.00;QD=1.26;ReadPosRankSum=1.52;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,13:64:95:0|1:179903957_A_C:95,0,1429:179903957	14	0	6	1
chr1	180014239	180014239	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1786C:p.V596L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.991	D	0.000	D	1.000	D	2.24	M	-2.57	D	0.672	D	0.818	D	0.871	5.044	29.9	5.6	2.788	9.092	19.577	0.565	0.138735317183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.131	0.34596	T	0.997	0.70673	D	0.933	0.66815	D	0.000494	0.43931	D	0.000000	1	0.81001	D	2.515	0.73286	M	-2.57	0.89692	D	-1.93	0.44852	N	0.804	0.79986	0.672	0.92822	D	0.818	0.93855	D	9	0.7784072	0.77650	D	0.138735	0.82122	D	0.565	0.82232	0.251	0.18912	0.933423527662	0.93273	0.2305698346646848	0.22971	0.406491481352	0.41524	0.817128300667	0.84587	D	0.124088	0.44888	T	0.411747	0.90578	D	0.353669	0.90461	D	0.993486225605011	0.84301	D	0.907609	0.67324	D	0.52510554	0.68551	0.5940318	0.76435	0.52510554	0.68552	0.5940318	0.76436	-8.814	0.66492	D	.	.	0.957	0.87648	P	.	.	4.238175	0.64232	24.7	0.99861407413495462	0.94002	0.99292	0.94053	D	AEFGBI	0.815095	0.73715	D	0.861085333927434	0.89729	10.09338	0.856523218067628	0.93392	12.01194	0.999999999986871	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	9.516000	0.97042	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.577	0.95445	185	0.92771	.	.	.	.	.	.	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	0.1786	351.91	104	chr1	180014239	.	G	C	351.91	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-3.051e+00;DP=1895;ExcessHet=1.1607;FS=246.725;InbreedingCoeff=-0.2543;MLEAC=7;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=0.125;SOR=11.993	GT:AD:DP:GQ:PL	0/1:70,23:96:53:53,0,1547	9	0	5	7
chr1	186367938	186367938	T	G	exonic	TPR	.	nonsynonymous SNV	TPR:NM_003292:exon4:c.A375C:p.R125S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.991	D	0.000	D	1.000	D	1.1	L	1.53	T	-1.012	T	0.117	T	0.836	4.022	20.6	3.81	1.129	4.771	9.329	0.198	0.0453209994512	.	.	8.642e-06	0	0	0	0	1.578e-05	0	0	6.5e-06	1	154602	rs747303433	4.112e-06	4.104e-06	5.456e-06	2.755e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.233	0.30926	T	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1.000	0.47320	D	2.295	0.65404	M	1.53	0.30401	T	-1.36	0.33798	N	0.633	0.77039	-1.0120	0.26291	T	0.117	0.41209	T	10	0.5735104	0.65450	D	0.045321	0.61926	D	0.198	0.48105	0.244	0.17830	0.490693190711	0.48701	0.4342097366556817	0.43337	0.466613555012	0.46060	0.670502722263	0.62910	T	0.036415	0.24096	T	0.0928061	0.63503	D	-0.040821	0.67645	D	0.844201743602753	0.49674	D	0.963204	0.91007	D	0.6733976	0.76615	0.35537648	0.61066	0.6733976	0.76616	0.35537648	0.61065	-3.334	0.14180	T	.	.	0.581	0.68094	P	.;.	.;.	4.432966	0.68763	25.3	0.99513504139471454	0.68799	0.96593	0.69919	D	AEFGBI	0.654002	0.62684	D	0.463460799787433	0.64971	4.764123	0.473582472609067	0.66245	4.927008	0.997942040630651	0.36224	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.08	3.81	0.43020	4.786000	0.62117	4.137000	0.42065	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.143:0.0:0.857	9.329	0.37172	307	0.87649	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	763.98	35	chr1	186367938	.	T	G	763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=763;ExcessHet=0.0000;FS=0.882;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=1.87;SOR=0.841	GT:AD:DP:GQ:PL	0/1:45,33:78:99:778,0,1056	20	0	1	0
chr1	201135776	201135776	C	T	exonic	TMEM9	.	nonsynonymous SNV	TMEM9:NM_001288565:exon5:c.G439A:p.G147R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.473	P	0.335	B	0.007	N	1.000	N	0.66	N	.	.	-1.012	T	0.055	T	0.2	2.863	15.54	3.8	0.965	1.885	8.452	0.087	0.00906955618678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	6.156e-06	9.54e-06	2.753e-06	6.299e-06	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.299e-06	3.317e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.852	0.03005	T	0.396	0.15255	T	0.001	0.07471	B	0.003	0.08700	B	0.006558	0.31955	N	0.140101	0.999827	0.20203	N	0.05	0.08135	N	.	.	.	0.72	0.02099	N	0.435	0.61426	-1.0124	0.26165	T	0.055	0.23148	T	9	0.13126945	0.24983	T	0.00907	0.23869	T	0.087	0.25287	0.373	0.38503	0.472102515431	0.46837	0.43048907856438506	0.42965	0.491041322685	0.47806	0.504313290119	0.39428	T	0.016918	0.13896	T	-0.153603	0.27749	T	-0.458417	0.26771	T	0.815807700157166	0.47463	D	0.753825	0.37593	T	0.04458247	0.07153	0.044720333	0.05858	0.04458247	0.07152	0.044720333	0.05858	-2.877	0.08915	T	.	.	0.152	0.36234	B	.;.;.;.;.	.;.;.;.;.	3.425535	0.47581	22.5	0.99305663299149161	0.58795	0.19602	0.20724	N	AEFBI	0.249704	0.36989	N	-0.688561751151728	0.16347	0.8320101	-0.581142962930112	0.19985	1.07472	0.979070323950974	0.29989	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.72	3.8	0.42887	4.850000	0.62587	4.755000	0.44682	0.549000	0.26987	0.980000	0.35271	1.000000	0.68203	0.904000	0.43992	0.0:0.8199:0.0:0.1801	8.452	0.32035	928	0.17405	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1527.98	36	chr1	201135776	.	C	T	1527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=854;ExcessHet=0.0000;FS=4.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-1.750e-01;SOR=0.425	GT:AD:DP:GQ:PL	0/1:74,63:137:99:1542,0,1746	20	0	1	0
chr1	201386508	201386508	T	C	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.A853G:p.T285A,	.	.	416	1091	15	0	0	15	0.00682749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.024	N	1.000	N	-1.39	N	2.87	T	-0.939	T	0.007	T	0.032	-0.684	1.024	-1.09	0.285	-0.221	3.288	0.019	0.00215725915153	.	0.000998403	0.0034	0.0003	0.0019	0	0.0002	0.0055	0.0050	0.0004	0.0030595	473	154602	rs199579589	0.0031	0.0031	0.0030	0.0031	0.0068	0.0030	0.0030	0.0051	0.0045	0.0005	0.0029	0.0018	2.529e-05	0.0002	0.0068	0.0036	0.0029	0.0007	0.0027	0.0027	0.0029	0.0024	0.0046	0.0025	0.0024	0.0041	0.0040	0.0005	0	0.0041	0.0017	0	0.0003	0.0068	0.0046	0.0019	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	0.023539	0.01594	N	2.147060	1	0.08975	N	-0.49	0.02651	N	2.87	0.10386	T	0.31	0.04022	N	0.047	0.01911	-0.9386	0.42837	T	0.007	0.02558	T	10	0.0033936203	0.00059	T	0.002157	0.04043	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.06471795420376389	0.06410	0.101017976049	0.11413	0.271386504173	0.06323	T	0.030787	0.21738	T	-0.766274	0.00014	T	-0.872109	0.00723	T	0.000960221312585339	0.00009	T	0.336666	0.07200	T	0.014417047	0.00092	0.017198384	0.00027	0.014417047	0.00092	0.017198384	0.00027	-2.898	0.09123	T	.	.	0.059	0.00754	B	.;.	.;.	-0.565584	0.01668	0.119	0.17251376477950772	0.00495	0.00580	0.02616	N	AEFBCI	0.030474	0.03075	N	-1.58242822399693	0.01355	0.05902909	-1.49155796214791	0.02413	0.1109366	0.999631973349128	0.41205	0.732398	0.92422	0	0.626922	0.53725	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.47	-1.09	0.09397	-0.913000	0.04150	-1.896000	0.04535	-1.048000	0.01648	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.2428:0.3668:0.0:0.3904	3.288	0.06532	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1181.11	33	chr1	201386508	.	T	C	1181.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.619;DP=1049;ExcessHet=0.1072;FS=5.365;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.09;ReadPosRankSum=1.37;SOR=0.370	GT:AD:DP:GQ:PL	0/1:45,34:79:99:769,0,1186	19	0	2	0
chr1	201983063	201983063	G	T	exonic	RNPEP	.	nonsynonymous SNV	RNPEP:NM_020216:exon1:c.G397T:p.A133S,	.	.	.	.	.	.	.	.	.	.	.	2194515	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.001	B	0.007	B	0.018	N	0.999	N	0	N	3.75	T	-0.945	T	0.007	T	0.103	2.475	14.24	0.454	0.194	1.069	4.050	0.016	0.0131697579586	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1281876553	8.011e-06	1.915e-05	7.207e-06	8.833e-06	0.0002	4.3e-06	3.14e-06	2.71e-06	1.74e-06	0	0	0	0	2.32e-05	0.0002	6.518e-06	1.761e-05	1.302e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29688	T	0.466	0.17750	T	0.001	0.07471	B	0.007	0.12992	B	0.018086	0.27565	N	0.331261	0.999381	0.21275	N	-0.55	0.02420	N	3.75	0.03922	T	-0.01	0.07155	N	0.039	0.01999	-0.9445	0.41895	T	0.007	0.02282	T	10	0.0611988	0.07635	T	0.01317	0.32362	T	0.016	0.02506	0.389	0.41115	0.222439326576	0.21863	0.306574377233197	0.30570	0.140086197031	0.15791	0.529822349548	0.43009	T	0.049765	0.28402	T	-0.321733	0.06756	T	-0.699924	0.05831	T	0.0620427113714354	0.07487	T	0.521348	0.16985	T	0.061722446	0.12815	0.069999345	0.14820	0.061722446	0.12814	0.069999345	0.14820	-3.894	0.22212	T	.	.	0.073	0.05935	B	.;.	.;.	1.463098	0.18861	13.96	0.97088810167198869	0.32315	0.37082	0.25680	N	ALL	0.167832	0.29454	N	-0.850022417469157	0.12048	0.5850068	-0.799767306504595	0.14501	0.7579927	0.999999999996167	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	3.81	0.454	0.15857	0.397000	0.20608	1.408000	0.26256	-0.171000	0.11205	0.000000	0.06391	0.254000	0.23938	0.955000	0.50612	0.1876:0.0:0.4605:0.3519	4.050	0.09270	740	0.53092	.;.	.	.	.	.	.	Uncertain significance	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	219.98	27	chr1	201983063	.	G	T	219.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.600e-02;DP=608;ExcessHet=0.0000;FS=1.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.87;ReadPosRankSum=1.29;SOR=1.022	GT:AD:DP:GQ:PL	0/1:20,12:32:99:234,0,451	20	0	1	0
chr1	202012720	202012720	G	A	exonic	ELF3	.	nonsynonymous SNV	ELF3:NM_001114309:exon5:c.G559A:p.G187R	.	.	417	1094	10	1	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.06	B	0.029	B	0.013	U	1.000	N	1.32	L	2.36	T	-1.022	T	0.144	T	0.491	0.492	6.668	3.04	0.474	2.006	8.505	0.105	0.0173454211129	0.0003	.	0.0004	0	0.0003	0	0	0.0003	0	0.0016	0.0003234	50	154602	rs151290080	0.0003	0.0003	0.0002	0.0004	0.0105	0.0003	0.0003	0.0084	0.0076	0	0.0001	0	2.526e-05	1.948e-05	0.0105	0.0002	0.0004	0.0015	0.0002	0.0002	0.0002	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	0	0	0	0	0	0	0.0068	0.0003	0	0.0015	0.23	0.38863	T	0.562	0.34716	T	0.06	0.23119	B	0.029	0.21540	B	0.013109	0.01355	U	7.741050	1	0.08975	N	1.67	0.42885	L	2.36	0.53731	T	-1.43	0.35194	N	0.301	0.34012	-1.0219	0.23096	T	0.144	0.46714	T	10	0.019317776	0.00430	T	0.017345	0.39013	T	0.105	0.29889	0.265	0.21103	0.64617586229	0.64324	0.3514196407946845	0.35055	0.368701807779	0.38416	0.521216154099	0.41797	T	0.207525	0.56719	T	-0.367904	0.03701	T	-0.325873	0.41928	T	0.0167001427708858	0.00428	T	0.677732	0.28664	T	0.06325544	0.13300	0.08212194	0.18719	0.06325544	0.13300	0.08212194	0.18719	-3.74	0.19910	T	.	.	0.149	0.32969	B	.;.;.;.	.;.;.;.	2.674151	0.34869	19.75	0.87657972777412774	0.17386	0.44406	0.27311	N	AEFDGBCI	0.229100	0.35268	N	-0.684345782597569	0.16468	0.8392727	-0.677264178078325	0.17530	0.9325245	0.999999959042215	0.74766	0.650006	0.45971	0	0.624306	0.53593	0	0.606735	0.37207	0	0.542086	0.14980	0	.	.	4.91	3.04	0.34171	3.547000	0.53416	4.102000	0.41870	0.676000	0.76740	0.812000	0.29879	1.000000	0.68203	0.213000	0.22268	0.1791:0.0:0.8209:0.0	8.505	0.32344	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	1053.98	35	chr1	202012720	.	G	A	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.490;DP=808;ExcessHet=0.0000;FS=4.383;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.695;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,41:77:99:0|1:202012720_G_A:1068,0,1331:202012720	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|1:114,22:136:83:0|1:204444146_C_T:83,0,3846:204444146	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|1:114,22:136:83:0|1:204444146_C_T:83,0,3846:204444146	12	0	8	1
chr1	206507765	206507765	G	A	exonic	RASSF5	.	nonsynonymous SNV	RASSF5:NM_182663:exon1:c.G163A:p.G55R	.	.	419	1093	10	0	0	10	0.00455373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.032	B	0.006	B	0.031	N	0.998	N	0.695	N	3.05	T	-1.019	T	0.029	T	0.146	1.187	9.824	2.81	0.856	1.658	10.591	0.060	0.0709774793557	.	0.000798722	0.0062	0	0	0	.	0.0053	0	0.0070	0.0004657	72	154602	rs559841670	0.0005	0.0005	0.0004	0.0006	0.0068	0.0005	0.0005	0.0048	0.0041	4.076e-05	0.0003	0.0011	0	3.109e-05	0.0068	0.0003	0.0010	0.0039	0.0005	0.0005	0.0003	0.0007	0.0029	0.0004	0.0004	0.0018	0.0014	4.826e-05	0	0.0017	0.0009	0	0.0003	0.0205	0.0003	0.0009	0.0029	.	.	.	0.04	0.50809	D	0.007	0.20242	B	0.003	0.12133	B	0.031133	0.25211	N	0.247654	1	0.08975	N	0.805	0.20218	L	3.05	0.15028	T	.	.	.	0.126	0.14622	-1.0190	0.24041	T	0.029	0.12322	T	10	0.0072321594	0.00165	T	0.070977	0.71148	D	.	.	0.258	0.20002	0.344017737713	0.34012	0.4799395137607475	0.47913	.	.	0.880688548088	0.94053	D	0.061994	0.31798	T	-0.579632	0.00194	T	-0.603459	0.12523	T	0.0554501720190643	0.06433	T	0.786621	0.42528	T	0.068282165	0.14862	0.20474322	0.44611	0.068282165	0.14862	0.20474322	0.44610	-3.312	0.13893	T	.	.	0.142	0.31304	B	.;.;.	.;.;.	2.168501	0.27635	17.53	0.97309312689330918	0.33318	0.49772	0.28510	N	AEFDBHCI	0.038566	0.05478	N	-0.660024206835807	0.17169	0.8811781	-0.640150421164478	0.18466	0.9865569	0.999999967001659	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.76	2.81	0.31971	1.698000	0.37413	0.000000	0.13247	0.368000	0.20244	0.978000	0.35038	0.184000	0.23444	0.059000	0.15899	0.0:0.197:0.803:0.0	10.591	0.44502	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	244.98	34	chr1	206507765	.	G	A	244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=539;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=2.11;SOR=0.582	GT:AD:DP:GQ:PL	0/1:15,10:25:99:259,0,339	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|1:93,16:109:99:0|1:212100360_A_G:185,0,3591:212100360	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|1:93,16:109:99:0|1:212100360_A_G:185,0,3591:212100360	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|1:93,16:109:99:0|1:212100360_A_G:185,0,3591:212100360	14	0	7	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S,	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.918	P	0.243	B	0.000	D	0.990	D	0.83	L	1.55	T	-1.120	T	0.056	T	0.262	3.544	18.08	5.73	2.861	6.815	20.260	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	372.12	113	chr1	220154029	.	G	C	372.12	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-2.626e+00;DP=1942;ExcessHet=7.7275;FS=214.208;InbreedingCoeff=-0.3437;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=0.39;ReadPosRankSum=-8.540e-01;SOR=12.523	GT:AD:DP:GQ:PL	0/1:54,20:74:13:13,0,857	10	0	11	0
chr1	222629720	222629720	A	G	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.A2500G:p.I834V	.	.	419	1088	15	0	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.027	B	0.022	B	.	.	1.000	N	1.1	L	3.66	T	-0.905	T	0.007	T	0.079	-0.298	2.580	-1.89	-0.156	-1.253	4.205	0.010	.	0.0053	0.00339457	0.0063	0.0016	0.0047	0	0.0067	0.0088	0.0101	0.0032	0.0061383	949	154602	rs79054337	0.0075	0.0075	0.0076	0.0074	0.0086	0.0074	0.0073	0.0084	0.0084	0.0013	0.0045	0.0007	0	0.0078	0.0036	0.0086	0.0072	0.0036	0.0055	0.0055	0.0055	0.0055	0.0084	0.0052	0.0051	0.0079	0.0076	0.0015	0.0044	0.0048	0	0	0.0079	0.0068	0.0084	0.0076	0.0048	0.071	0.35165	T	0.636	0.07059	T	0.017	0.17573	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	3.66	0.04228	T	0.14	0.05405	N	0.06	0.03175	-0.9047	0.47481	T	0.007	0.02360	T	9	0.0034705698	0.00061	T	.	.	.	0.010	0.01040	.	.	0.126345400529	0.12197	0.02975397248211301	0.02924	0.0474528487497	0.05180	0.231261909008	0.02063	T	2.94E-4	0.00073	T	-0.674629	0.00052	T	-0.735578	0.04079	T	0.00121981089687263	0.00012	T	0.264874	0.04312	T	0.018474111	0.00368	0.0287193	0.01134	0.018474111	0.00368	0.0287193	0.01134	-2.737	0.07619	T	.	.	0.071	0.03887	B	.	.	-1.077967	0.00667	0.019	0.19956957880846973	0.00697	0.02504	0.06993	N	AEFBCI	0.020073	0.00756	N	-1.18086869438657	0.05290	0.2407763	-1.24845453336349	0.05154	0.2448985	0.988158556269713	0.31431	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.23	-1.89	0.07271	-0.116000	0.10697	-0.546000	0.08555	-0.056000	0.16711	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3763:0.3183:0.3054:0.0	4.205	0.09939	910	0.22284	.	.	.	.	.	rs79054337	Likely benign	0	0	0	0	0	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	1584.98	90	chr1	222629720	.	A	G	1584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.348e+00;DP=1164;ExcessHet=0.0000;FS=3.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=0.765;SOR=0.690	GT:AD:DP:GQ:PL	0/1:61,66:127:99:1599,0,1537	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	0/1:11,7,0:18:99:261,0,441,294,462,756	8	0	12	0
chr1	225853676	225853676	G	A	exonic	TMEM63A	.	nonsynonymous SNV	TMEM63A:NM_014698:exon19:c.C1750T:p.R584C,	.	.	419	1094	9	0	0	9	0.0040965	.	.	3192478	TMEM63A-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	2.905	M	1.41	T	-0.505	T	0.253	T	0.953	5.271	33	5.45	2.562	9.726	19.288	0.728	0.0492004327872	0.0014	0.000798722	0.0016	0.0024	0.0072	0	0.0019	0.0018	0	0.0006	0.0008409	130	154602	rs75188792	0.0007	0.0007	0.0006	0.0008	0.0068	0.0007	0.0007	0.0051	0.0045	0.0015	0.0020	3.935e-05	5.208e-05	1.953e-05	0.0068	0.0007	0.0015	0.0004	0.0012	0.0012	0.0011	0.0012	0.0019	0.0010	0.0010	0.0014	0.0012	0.0012	0.0186	0.0019	0	0	0.0002	0.0102	0.0008	0.0076	0.0012	0.0	0.91255	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	2.92	0.84325	M	1.41	0.33412	T	-7.32	0.94537	D	0.967	0.97750	-0.5051	0.68464	T	0.253	0.62337	T	10	0.07900062	0.12657	T	0.049	0.63711	D	0.728	0.90457	.	.	0.570020700114	0.56667	0.7869320622264573	0.78645	0.885137563501	0.69946	0.572756648064	0.49067	T	0.147636	0.48582	T	-0.0194096	0.48938	T	0.192867	0.82732	D	0.0798766800261202	0.09970	T	0.969303	0.88939	D	0.8484633	0.87222	0.759123	0.85767	0.8484633	0.87224	0.759123	0.85768	-9.409	0.70291	D	0.7017525084487362	0.78081	0.224	0.45605	B	.	.	5.814432	0.93670	33	0.99947735947656613	0.99923	0.99812	0.99628	D	AEFDBI	0.923388	0.89980	D	0.96605212451979	0.94601	12.88682	0.920471841969732	0.96404	14.65616	0.999999999999858	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.45	5.45	0.79688	9.858000	0.98409	11.332000	0.92542	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	19.288	0.94071	724	0.55085	Calcium-dependent channel, 7TM region, putative phosphate	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1024.98	34	chr1	225853676	.	G	A	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=805;ExcessHet=0.0000;FS=3.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=0.955;SOR=0.568	GT:AD:DP:GQ:PL	0/1:56,44:100:99:1039,0,1295	20	0	1	0
chr1	226736432	226736432	C	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.G1027A:p.V343M,	.	.	427	1092	3	0	0	3	0.00137174	.	.	2267764	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.015	B	0.007	B	0.105	N	1.000	N	0.205	N	1.76	T	-1.025	T	0.036	T	0.049	1.557	11.16	-1.09	-0.409	-0.156	6.534	0.007	0.00890764341178	0.0002	.	0.0003	0.0001	0.0006	0	0	0.0004	0	0.0003	0.0002652	41	154602	rs199795545	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0019	0.0015	0.0001	0.0004	3.826e-05	0	0	0.0029	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	2.412e-05	0	0.0001	0	0	0	0.0032	0.0004	0.0005	0	0.21	0.19639	T	0.06	0.45744	T	0.015	0.17086	B	0.007	0.12992	B	0.104812	0.02582	N	1.936190	1	0.08975	N	0.69	0.16971	N	1.76	0.25996	T	0.04	0.09460	N	0.067	0.03956	-1.0251	0.22050	T	0.036	0.15726	T	10	0.02584678	0.00767	T	0.008908	0.23487	T	0.007	0.00512	.	.	0.202312658747	0.19855	0.11423920005933663	0.11351	0.198248602837	0.22201	0.398197293282	0.24818	T	0.050054	0.28486	T	-0.576773	0.00202	T	-0.748198	0.03557	T	0.0149355959147215	0.00318	T	0.675032	0.28342	T	0.036156416	0.04393	0.04187583	0.04860	0.036156416	0.04393	0.04187583	0.04860	-4.531	0.31292	T	.	.	0.146	0.46144	B	.;.;.	.;.;.	0.507183	0.08762	5.537	0.94287004509521166	0.24586	0.05797	0.11733	N	AEFDBHCI	0.057953	0.10837	N	-1.0949260225768	0.06736	0.310946	-1.11070511248466	0.07495	0.3647805	0.999948102287712	0.47345	0.685219	0.55550	0	0.672317	0.65289	0	0.674405	0.61402	0	0.636168	0.56350	0	.	.	4.43	-1.09	0.09397	-0.577000	0.05940	-0.325000	0.09934	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.599000	0.31363	0.0:0.3968:0.4311:0.1721	6.534	0.21541	845	0.36510	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1588.98	50	chr1	226736432	.	C	T	1588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.670e-01;DP=1438;ExcessHet=0.0000;FS=1.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=0.905;SOR=0.886	GT:AD:DP:GQ:PL	0/1:52,62:114:99:1603,0,1323	20	0	1	0
chr1	228487495	228487495	C	T	exonic	RNF187	.	nonsynonymous SNV	RNF187:NM_001010858:exon1:c.C7T:p.L3F,	.	.	431	1087	3	1	0	5	0.00229463	.	.	2345098	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1006476921	0.0003	0.0002	0.0003	0.0003	0.0064	0.0002	0.0002	0.0039	0.0032	0.0003	0.0006	0.0003	0	0	0.0064	0.0002	0.0001	0.0016	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0003	0.0002	4.839e-05	0	0.0004	0.0003	0	9.992e-05	0.0103	0.0002	0	0.0008	.	.	.	0.0	0.92824	D	0.948	0.53620	P	0.478	0.47030	P	.	.	.	.	0.998461	0.22137	N	1.43	0.35840	L	.	.	.	.	.	.	0.08	0.05542	.	.	.	.	.	.	.	0.16893631	0.31473	T	.	.	.	.	.	.	.	0.651660614473	0.64876	0.1813352742045692	0.18052	.	.	0.817205429077	0.84600	D	0.036184	0.24008	T	-0.036724	0.46434	T	-0.290528	0.45718	T	.	.	.	.	.	.	0.06026763	0.12347	0.15776184	0.36874	0.06026763	0.12346	0.15776184	0.36873	-5.347	0.40406	T	.	.	0.119	0.24532	B	.;.	.;.	2.787682	0.36639	20.3	0.9677352149948798	0.31045	0.03330	0.08404	N	ALL	.	.	.	.	.	.	.	.	.	0.999999301839419	0.74766	0.142881	0.03202	1	0.090139	0.02499	0	0.158946	0.03948	1	0.088244	0.02422	0	0.12303	0.24969	3.46	2.21	0.27042	0.326000	0.19391	0.488000	0.18872	0.387000	0.20461	0.002000	0.15269	0.000000	0.08366	0.953000	0.50222	0.0:0.7429:0.2571:0.0	11.220	0.48078	288	0.88579	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1443.11	34	chr1	228487495	.	C	T	1443.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.720e-01;DP=794;ExcessHet=0.1072;FS=2.263;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=0.515;SOR=0.502	GT:AD:DP:GQ:PL	0/1:29,24:53:99:590,0,769	19	0	2	0
chr1	229614464	229614464	C	T	exonic	TAF5L	.	nonsynonymous SNV	TAF5L:NM_001025247:exon2:c.G19A:p.E7K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.997	D	0.000	D	1.000	D	2.095	M	0.54	T	-0.281	T	0.438	T	0.89	6.009	37	5.77	2.732	7.452	20.002	0.346	0.0743032420042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	2.722e-06	2.75e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.92824	D	0.999	0.90584	D	0.98	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	0.04	0.62051	T	-0.86	0.66549	N	0.936	0.96871	-0.2806	0.75524	T	0.438	0.77695	T	9	0.7513443	0.75660	D	0.074303	0.72007	D	0.346	0.66769	0.402	0.43245	0.710910423371	0.70838	0.664216391094955	0.66358	0.642444202112	0.57808	0.797382831573	0.81565	T	0.08921	0.44873	T	0.329859	0.85155	D	0.236043	0.84961	D	0.973430991172791	0.70095	D	0.845915	0.56644	T	0.6665391	0.76248	0.5883987	0.76123	0.6665391	0.76249	0.5883987	0.76124	-7.179	0.55330	T	.	.	0.841	0.89526	P	.;.;.;.	.;.;.;.	5.310230	0.89146	29.9	0.99934558451644306	0.99535	0.98795	0.86952	D	AEFBI	0.852769	0.76968	D	0.793528142876029	0.85699	8.654641	0.795451576270333	0.89474	9.990287	0.999999999999969	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	7.552000	0.81138	7.629000	0.62648	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.002	0.97411	519	0.74455	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2338.98	42	chr1	229614464	.	C	T	2338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=1273;ExcessHet=0.0000;FS=3.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=1.22;SOR=0.875	GT:AD:DP:GQ:PL	0/1:84,89:173:99:2353,0,2101	20	0	1	0
chr1	230990117	230990117	G	A	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_001346992:exon3:c.G302A:p.G101E	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	.	436	1043	41	2	0	45	0.0211168	.	.	707195	ARV1-related_disorder|not_provided	MedGen:CN235539|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	1.0	D	0.996	D	0.000	D	1.000	D	1.21	L	1.04	T	-1.002	T	0.138	T	0.659	4.890	28.1	6.17	2.941	7.466	20.879	0.256	.	0.0046	0.00519169	0.0056	0.0011	0.0016	0	0.0005	0.0044	0.0066	0.0216	0.0054204	838	154602	rs35764859	0.0068	0.0068	0.0064	0.0072	0.0203	0.0067	0.0067	0.0195	0.0191	0.0012	0.0020	0.0050	7.62e-05	0.0004	0.0126	0.0066	0.0089	0.0203	0.0041	0.0041	0.0043	0.0039	0.0195	0.0038	0.0037	0.0163	0.0151	0.0010	0	0.0033	0.0032	0	0.0003	0.0204	0.0061	0.0038	0.0195	0.377	0.17761	T	0.817	0.39492	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.055422	1	0.81001	D	1.75	0.45442	L	1.04	0.40218	T	-2.05	0.53577	N	0.84	0.83576	-1.0017	0.29430	T	0.138	0.45583	T	10	0.012885034	0.00275	T	.	.	.	0.256	0.56694	.	.	0.902235681755	0.90125	0.7012005147172009	0.70061	0.783812259885	0.65410	0.61260843277	0.54685	T	0.132561	0.51226	T	-0.30417	0.08272	T	-0.193439	0.55267	T	0.0165582415434583	0.00418	T	0.930707	0.74322	D	0.6035068	0.72879	0.68881744	0.81694	0.629531	0.74274	0.68881744	0.81694	-9.63	0.71665	D	0.4046614240751881	0.49594	0.487	0.73409	A	.;.	.;.	5.299921	0.88975	29.8	0.99815137079353544	0.89885	0.98673	0.85416	D	AEFBI	0.927170	0.90941	D	0.586677778091351	0.72343	5.790699	0.659699080626773	0.79335	7.060692	0.999999999999997	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.17	6.17	0.99707	7.584000	0.81862	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.879	0.99870	801	0.44448	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1799.11	35	chr1	230990117	.	G	A	1799.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.77;DP=806;ExcessHet=0.1072;FS=3.361;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.367;SOR=0.439	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1245,0,1239	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|1:176,28:204:99:0|1:243330649_T_C:121,0,6104:243330649	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|1:176,28:204:99:0|1:243330649_T_C:121,0,6104:243330649	17	0	4	0
chr1	246767202	246767202	G	C	exonic	SCCPDH	.	nonsynonymous SNV	SCCPDH:NM_016002:exon12:c.G1192C:p.V398L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	1.0	D	0.000	D	1.000	D	3.36	M	0.6	T	0.008	D	0.430	T	0.865	4.580	24.9	5.0	1.503	8.788	15.183	0.560	0.0607066122749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.052981	1	0.81001	D	3.025	0.86340	M	0.6	0.53731	T	-2.56	0.55339	D	0.813	0.80866	0.008	0.82423	D	0.430	0.77238	T	10	0.969491	0.96509	D	0.060707	0.68090	D	0.560	0.81946	0.875	0.96581	0.849804418415	0.84836	0.9023042328331593	0.90202	0.628220077563	0.56899	0.435453057289	0.29955	T	0.312982	0.68476	T	0.277	0.81094	D	0.16069	0.80851	D	0.995431065559387	0.87417	D	0.939806	0.77272	D	0.5842948	0.71842	0.36693108	0.62013	0.5842948	0.71843	0.36693108	0.62012	-8.706	0.65785	D	.	.	0.813	0.77883	P	.	.	5.176468	0.86775	29.0	0.9980880289366385	0.89264	0.99645	0.98295	D	AEFBI	0.933965	0.92666	D	0.903023816211085	0.91906	11.12833	0.831453057332703	0.91888	11.12129	0.999984630838445	0.51787	0.719381	0.83141	0	0.724815	0.89359	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.91	5.0	0.66209	9.015000	0.93160	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0673:0.0:0.9327:0.0	15.183	0.72656	776	0.48302	.	.	.	.	.	.	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	31.0	42	chr1	246767202	.	G	C	31.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.757e+00;DP=1112;ExcessHet=0.0000;FS=199.700;InbreedingCoeff=-0.0258;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.51;ReadPosRankSum=1.49;SOR=9.346	GT:AD:DP:GQ:PL	0/1:43,18:61:45:45,0,770	20	0	1	0
chr1	247424041	247424041	G	A	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_001127461:exon4:c.G592A:p.V198M	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	.	0	1500	22	0	0	22	0.00727995	.	.	19410	Familial_cold_autoinflammatory_syndrome_1|Familial_amyloid_nephropathy_with_urticaria_AND_deafness|Chronic_infantile_neurological,_cutaneous_and_articular_syndrome|not_specified|Autoinflammatory_syndrome|not_provided|Hearing_loss,_autosomal_dominant_34,_with_or_without_inflammation|Keratitis_fugax_hereditaria|Cryopyrin_associated_periodic_syndrome|Familial_cold_autoinflammatory_syndrome|NLRP3-related_disorder|Kidney_disorder	MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451|MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|MONDO:MONDO:0033261,MedGen:C4521680,OMIM:617772|MONDO:MONDO:0007849,MedGen:C1835697,OMIM:148200,Orphanet:647815|MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650|MONDO:MONDO:0018768,MedGen:C0343068,OMIM:PS120100,Orphanet:47045|.|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.105	B	0.016	B	0.234	N	0.000	A	-0.805	N	-2.33	D	-0.730	T	0.212	T	0.204	-0.442	1.948	-7.37	-1.644	-0.222	9.296	0.222	.	0.0068	0.00399361	0.0083	0.0013	0.0038	0.0001	0.0253	0.0099	0.0156	0.0060	0.0078912	1220	154602	rs121908147	0.0085	0.0085	0.0086	0.0085	0.0087	0.0084	0.0083	0.0085	0.0085	0.0011	0.0042	0.0115	2.519e-05	0.0238	0.0052	0.0087	0.0078	0.0063	0.0073	0.0073	0.0066	0.0079	0.0087	0.0069	0.0068	0.0081	0.0079	0.0013	0	0.0066	0.0130	0.0002	0.0255	0.0034	0.0087	0.0080	0.0054	0.155	0.24183	T	0.226	0.25748	T	0.069	0.23796	B	0.016	0.17743	B	0.234251	0.03538	N	1.537910	2.97861e-11	0.08975	A	.	.	.	-2.33	0.87910	D	-0.22	0.12283	N	0.07	0.04547	-0.7300	0.58964	T	0.212	0.57281	T	9	0.03694403	0.02021	T	.	.	.	0.222	0.51872	.	.	0.513846082701	0.51024	0.22615389081437023	0.22530	0.460099396149	0.45567	0.299927890301	0.10390	T	0.384477	0.74610	T	-0.437204	0.01343	T	-0.392971	0.34203	T	0.00574209630635007	0.00063	T	0.627137	0.25952	T	0.039222877	0.05375	0.061986197	0.12055	0.029809969	0.02537	0.05537048	0.09700	-4.569	0.32045	T	.	.	0.074	0.05491	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.233222	0.02926	0.426	0.72672109334390289	0.10055	0.05110	0.10913	N	AEFDBI	0.073820	0.14778	N	-1.70017292574289	0.00841	0.03637804	-1.75656881570094	0.00909	0.04064689	0.999945305624792	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.27	-7.37	0.01266	-0.254000	0.08801	.	.	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.315000	0.24854	0.7268:0.0:0.1551:0.1181	9.296	0.36974	889	0.27310	.;NACHT-associated domain|NACHT-associated domain;NACHT-associated domain|NACHT-associated 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	1	0	1	0	0.02381	7869.98	43	chr1	247424041	.	G	A	7869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=1403;ExcessHet=0.0000;FS=2.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=1.86;SOR=0.607	GT:AD:DP:GQ:PL	0/1:312,314:626:99:7884,0,7560	20	0	1	0
chr1	248273644	248273644	C	T	exonic	OR2T33	.	nonsynonymous SNV	OR2T33:NM_001004695:exon1:c.G171A:p.M57I,	.	.	452	1051	19	0	0	19	0.00895804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.97	D	0.83	P	0.001	U	0.587	D	4.12	H	2.99	T	-0.700	T	0.080	T	0.459	3.484	17.82	1.74	0.396	4.051	9.667	0.168	.	0.0022	0.00459265	0.0051	0.0006	0.0013	0.0001	0.0027	0.0037	0.0044	0.0199	0.0004463	69	154602	rs146191422	0.0044	0.0044	0.0039	0.0049	0.0188	0.0043	0.0043	0.0180	0.0177	0.0006	0.0020	0.0010	0.0001	0.0028	0.0058	0.0038	0.0041	0.0188	0.0034	0.0034	0.0030	0.0037	0.0205	0.0031	0.0030	0.0173	0.0160	0.0004	0	0.0024	0.0009	0.0002	0.0035	0.0068	0.0046	0.0014	0.0205	0.001	0.78490	D	0.004	0.74150	D	0.97	0.56973	D	0.83	0.59611	P	0.000672	0.42516	U	0.000000	0.587033	0.32423	D	3.175	0.88760	M	2.99	0.09262	T	-3.3	0.65858	D	0.348	0.38950	-0.7002	0.60429	T	0.080	0.31705	T	10	0.0103830695	0.00231	T	.	.	.	0.168	0.42943	0.709	0.84509	0.60215957748	0.59898	0.32062858547817424	0.31975	1.61704118972	0.89014	0.216252028942	0.01104	T	0.012069	0.10668	T	-0.437176	0.01343	T	-0.385813	0.35043	T	0.0477881684187641	0.05106	T	0.873813	0.58316	D	0.8095102	0.84521	0.7608464	0.85870	0.8095102	0.84523	0.7608464	0.85871	-10.149	0.74799	D	.	.	0.731	0.74227	P	.;.	.;.	3.287508	0.45070	22.1	0.99636210278872583	0.76387	0.77667	0.38214	D	AEFI	0.231881	0.35503	N	0.521612514642491	0.68369	5.207717	0.327675825219252	0.57172	3.882075	4.13555868377744E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.7	1.74	0.23636	3.325000	0.51742	0.669000	0.20577	0.561000	0.28422	1.000000	0.71638	0.956000	0.29165	0.937000	0.47636	0.0:0.8852:0.0:0.1148	9.667	0.39154	982	0.03397	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2654.98	169	chr1	248273644	.	C	T	2654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.808e+00;DP=2585;ExcessHet=0.0000;FS=1.109;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.28;MQRankSum=2.22;QD=13.62;ReadPosRankSum=-8.830e-01;SOR=0.750	GT:AD:DP:GQ:PL	0/1:89,106:195:99:2669,0,2172	20	0	1	0
chr1	248361672	248361672	A	0	exonic	OR2T4	.	.	.	.	.	444	759	27	2	290	321	0.0200129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3294.69	34	chr1	248361672	.	A	G,*	3294.69	.	AC=1,14;AF=0.025,0.350;AN=40;BaseQRankSum=-7.600e-01;DP=3320;ExcessHet=0.8717;FS=8.880;InbreedingCoeff=0.0286;MLEAC=1,14;MLEAF=0.025,0.350;MQ=60.00;MQRankSum=0.00;QD=1.30;ReadPosRankSum=0.556;SOR=0.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:194,0,47:241:99:.:.:1405,1989,10134,0,8145,7985	8	0	1	1
chr2	17718077	17718077	C	G	exonic	SMC6	.	nonsynonymous SNV	SMC6:NM_024624:exon11:c.G1092C:p.E364D	.	.	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.983	D	0.000	D	1.000	D	1.74	L	1.52	T	-0.995	T	0.143	T	0.27	4.343	22.8	3.59	0.777	4.676	11.912	0.201	0.0212465142959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.904e-07	1.847e-05	1.373e-06	0	9.041e-07	0	0	.	.	0	0	0	0	0	0	9.041e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.068	0.49942	T	0.94	0.77913	P	0.796	0.75793	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.305	0.65957	M	1.52	0.30669	T	-2.49	0.54217	N	0.456	0.49328	-0.9945	0.31432	T	0.143	0.46459	T	9	0.5550543	0.64470	D	0.021247	0.43989	T	0.201	0.48592	0.72	0.85496	0.439445477881	0.43565	0.39608735440883663	0.39523	0.785247102179	0.65485	0.576108396053	0.49537	T	0.117911	0.43834	T	-0.126733	0.32025	T	-0.419819	0.31095	T	0.95919793844223	0.65469	D	0.882812	0.61002	D	0.4057743	0.61131	0.30099767	0.56132	0.4057743	0.61131	0.30099767	0.56132	-4.967	0.36479	T	.	.	0.496	0.64380	A	.;.;.;.;.	.;.;.;.;.	5.135708	0.85965	28.8	0.99795594030637791	0.88106	0.94334	0.60835	D	AEFBHCI	0.722747	0.67258	D	0.443120586177463	0.63814	4.622516	0.423846892171514	0.63056	4.531784	0.999999999395155	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	3.59	0.40253	4.629000	0.60988	4.754000	0.44676	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.8588:0.0:0.1412	11.912	0.52030	533	0.73433	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	111.88	29	chr2	17718077	.	C	G	111.88	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-1.178e+00;DP=478;ExcessHet=0.0000;FS=52.231;InbreedingCoeff=0.3522;MLEAC=1;MLEAF=0.036;MQ=60.00;MQRankSum=0.00;QD=4.14;ReadPosRankSum=1.88;SOR=5.130	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,12:27:99:0|1:17718076_C_G:122,0,328:17718076	13	0	1	7
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	1/1:0,8,0,0:8:24:348,24,0,348,24,348,348,24,348,348	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	1/1:0,8,0,0:8:24:348,24,0,348,24,348,348,24,348,348	3	5	0	10
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.006	B	0.017	B	.	.	0.956	D	0.26	N	-3.53	D	-0.892	T	0.148	T	0.262	1.849	12.14	5.84	2.367	4.223	16.532	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.325	1873.78	24	chr2	23864893	.	T	C	1873.78	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.572e+00;DP=1254;ExcessHet=11.8493;FS=218.613;InbreedingCoeff=-0.4705;MLEAC=13;MLEAF=0.325;MQ=60.00;MQRankSum=0.00;QD=2.15;ReadPosRankSum=0.843;SOR=11.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,19:52:99:.:.:119,0,329	7	0	13	1
chr2	32115733	32115735	CTT	-	exonic	SPAST	.	nonframeshift deletion	SPAST:NM_001363875:exon5:c.803_805del:p.S269del	Spastic paraplegia 4, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330580691	1.371e-06	1.368e-06	1.365e-06	1.378e-06	2.993e-05	2.3e-07	9e-08	.	.	2.993e-05	0	0	0	0	0	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1100.94	33	chr2	32115732	.	CCTT	C	1100.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.380;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.48;ReadPosRankSum=1.42;SOR=0.760	GT:AD:DP:GQ:PL	0/1:34,29:63:99:1115,0,1340	20	0	1	0
chr2	32415923	32415923	A	G	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon10:c.A2548G:p.I850V	.	.	.	.	.	.	.	.	.	.	.	2677263	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.365	N	1.000	N	0.345	N	0.03	T	-1.072	T	0.105	T	0.023	-1.052	0.193	-0.29	-0.366	0.407	2.1	0.060	0.0201834544714	.	.	4.121e-05	0	0	0.0002	0	4.497e-05	0	0	3.23e-05	5	154602	rs780140402	3.352e-05	3.352e-05	2.587e-05	4.126e-05	0.0002	2.566e-05	2.312e-05	4.907e-05	3.165e-05	0	2.236e-05	0.0003	0.0001	0	0.0002	2.428e-05	8.282e-05	1.159e-05	3.942e-05	3.94e-05	1.285e-05	6.725e-05	0.0002	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0.0002	0	0	7.35e-05	0	0	0.635	0.05076	T	0.344	0.17804	T	.	.	.	.	.	.	0.365327	0.04328	N	1.374590	1	0.08975	N	.	.	.	0.03	0.62183	T	0.05	0.06369	N	0.031	0.00770	-1.0719	0.09001	T	0.105	0.38538	T	10	0.011182696	0.00246	T	0.020183	0.42720	T	0.060	0.17295	.	.	0.19168177325	0.18762	0.1578987500114644	0.15710	0.14333016732	0.16180	0.221379324794	0.01391	T	.	.	.	-0.507552	0.00518	T	-0.660863	0.08208	T	0.0261414553970098	0.01425	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00341	B	.	.	0.621284	0.09899	6.657	0.43283184295674321	0.03248	0.07006	0.13033	N	AEFBI	0.029528	0.02802	N	-1.21758748194383	0.04744	0.214791	-1.12645833803769	0.07197	0.3492166	0.0709368198422467	0.15548	0.706548	0.73137	0	0.653731	0.59785	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	5.76	-0.29	0.12211	0.435000	0.21228	0.111000	0.14782	-0.576000	0.04747	0.008000	0.17931	0.002000	0.18203	0.987000	0.62547	0.3298:0.1152:0.4363:0.1186	2.1	0.03454	297	0.88113	.	.	.	.	.	.	Uncertain significance	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	1565.98	33	chr2	32415923	.	A	G	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.997;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=-7.950e-01;SOR=0.713	GT:AD:DP:GQ:PL	0/1:58,61:119:99:1580,0,1417	20	0	1	0
chr2	33293242	33293242	C	G	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_000627:exon16:c.C2217G:p.H739Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.098	B	0.029	B	.	.	0.834	N	-0.1	N	-2.16	D	-0.757	T	0.322	T	0.616	1.623	11.38	3.84	2.663	0.506	7.411	0.438	0.0329969010625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	5.975e-05	2.3e-07	9e-08	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0	0	0	0	6.57e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.244	0.17468	T	0.471	0.12211	T	0.098	0.25584	B	0.029	0.21540	B	.	.	.	.	0.899952	0.28724	N	0.815	0.20815	L	-2.17	0.86624	D	-2.05	0.47008	N	0.428	0.55280	-0.7572	0.57556	T	0.322	0.69125	T	9	0.24368098	0.41586	T	0.032997	0.54670	D	0.438	0.74235	0.398	0.42590	0.738716796048	0.73637	0.43872323451413436	0.43789	0.136235181936	0.15368	0.470541238785	0.34754	T	0.263213	0.63487	T	0.0533388	0.58771	T	-0.161159	0.58247	T	0.12536883354187	0.14948	T	0.842016	0.53849	T	0.11105671	0.26245	0.118778594	0.28671	0.11105671	0.26245	0.118778594	0.28670	-4.289	0.31550	T	.	.	0.160	0.35435	B	.;.;.;.;.	.;.;.;.;.	2.800733	0.36843	20.3	0.93504220096171986	0.23312	0.35171	0.25240	N	AEFDBHCIJ	0.146898	0.27045	N	-0.480965365614023	0.22705	1.214251	-0.294243856944924	0.28288	1.576175	0.999999507315215	0.74766	0.50712	0.20391	0	0.627178	0.54094	0	0.662677	0.59975	0	0.635259	0.50027	0	.	.	5.66	3.84	0.43422	0.330000	0.19460	2.248000	0.31665	0.599000	0.40250	0.058000	0.21700	0.999000	0.35428	0.131000	0.19607	0.0:0.7749:0.0:0.2251	7.411	0.26192	854	0.34840	Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1454.98	33	chr2	33293242	.	C	G	1454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.250e-01;DP=826;ExcessHet=0.0000;FS=2.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-3.120e-01;SOR=0.512	GT:AD:DP:GQ:PL	0/1:70,62:132:99:1469,0,1774	20	0	1	0
chr2	36990652	36990652	G	A	exonic	HEATR5B	.	nonsynonymous SNV	HEATR5B:NM_019024:exon34:c.C5693T:p.P1898L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.044	B	0.03	B	0.000	D	1.000	D	1.5	L	-0.17	T	-0.836	T	0.193	T	0.918	2.836	15.45	5.52	2.612	9.827	19.445	0.404	0.033576986744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.399e-06	1.368e-06	0	2.823e-06	1.826e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.826e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.16958	T	0.246	0.23984	T	0.044	0.21686	B	0.03	0.21741	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.59	0.40313	L	-0.17	0.65563	T	-5.79	0.88065	D	0.866	0.86297	-0.8360	0.52911	T	0.193	0.54652	T	10	0.6144354	0.67626	D	0.033577	0.55080	D	0.404	0.71714	0.447	0.50629	0.618220796974	0.61513	0.48376111353466017	0.48296	0.170914286032	0.19256	0.796208024025	0.81386	T	0.209461	0.56968	T	0.318224	0.84345	D	0.219331	0.84141	D	0.987682282924652	0.78133	D	0.965953	0.87464	D	0.41168737	0.61533	0.4691633	0.69212	0.41168737	0.61534	0.4691633	0.69212	-5.657	0.43309	T	.	.	0.361	0.57286	A	.	.	4.394536	0.67843	25.2	0.92666016277297514	0.22147	0.99270	0.93736	D	AEFGBI	0.867027	0.78666	D	0.100961791171577	0.46506	2.890058	0.30405626131778	0.55778	3.740601	0.99999999981663	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	9.964000	0.99056	9.766000	0.81532	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.445	0.94836	877	0.30165	.	.	.	.	.	.	Uncertain significance	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	1174.98	34	chr2	36990652	.	G	A	1174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.012e+00;DP=781;ExcessHet=0.0000;FS=2.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-1.294e+00;SOR=0.446	GT:AD:DP:GQ:PL	0/1:46,48:94:99:1189,0,1245	20	0	1	0
chr2	44343945	44343945	T	C	exonic	PREPL	.	nonsynonymous SNV	PREPL:NM_001042385:exon4:c.A416G:p.N139S	.	.	430	1090	2	0	0	2	0.00091659	.	.	518241	Myasthenic_syndrome,_congenital,_22|PREPL-related_disorder	MONDO:MONDO:0044299,MedGen:C4479088,OMIM:616224|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.2	T	0.001	B	0.007	B	0.597	N	1.000	N	0	N	1.09	T	-1.017	T	0.044	T	0.01	1.963	12.52	-8.58	-1.263	-1.176	11.738	0.038	0.00412292526536	0.0025	0.000199681	0.0028	0.0006	0.0007	0	0.0008	0.0047	0.0034	0.0001	0.0004398	68	154602	rs138555092	0.0024	0.0024	0.0024	0.0023	0.0038	0.0023	0.0023	0.0026	0.0024	0.0006	0.0008	0.0100	0	0.0013	0.0038	0.0025	0.0031	0.0002	0.0014	0.0014	0.0016	0.0012	0.0020	0.0013	0.0012	0.0017	0.0016	0.0005	0.0055	0.0007	0.0089	0	0.0009	0.0034	0.0020	0.0009	0.0002	0.307	0.14159	T	0.556	0.12211	T	0.0	0.07471	B	0.001	0.12992	B	0.596725	0.10997	N	0.834058	0.999987	0.18878	N	0.345	0.11182	N	1.09	0.39223	T	-0.13	0.42957	N	0.063	0.04547	-1.0170	0.24690	T	0.044	0.18742	T	10	0.0030634105	0.00051	T	0.004123	0.09869	T	0.038	0.09825	.	.	0.143124449307	0.13826	0.14062476374069	0.13985	0.00548066125561	0.00480	0.255181491375	0.04334	T	0.015173	0.18622	T	-0.677117	0.00050	T	-0.747514	0.03583	T	0.00330174723611626	0.00035	T	0.737626	0.40554	T	0.016988471	0.00237	0.022017227	0.00236	0.019390598	0.00469	0.022566486	0.00279	-2.744	0.09621	T	0.13388803545867412	0.14412	0.066	0.10545	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-0.740964	0.01229	0.062	0.87772938032960868	0.17471	0.06337	0.12335	N	AEFBI	0.057676	0.10764	N	-1.26476096307748	0.04108	0.1847762	-1.23775729273645	0.05315	0.2529345	0.960741922608	0.28509	0.732398	0.92422	0	0.659464	0.62310	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.6	-8.58	0.00780	-1.158000	0.03264	-5.567000	0.01672	-0.722000	0.03793	0.004000	0.16614	0.000000	0.08366	0.969000	0.54022	0.0935:0.5326:0.0:0.3739	11.738	0.51042	835	0.38313	.;.;.;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal 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	978.98	34	chr2	44343945	.	T	C	978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=775;ExcessHet=0.0000;FS=2.086;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-1.381e+00;SOR=1.056	GT:AD:DP:GQ:PL	0/1:35,37:72:99:993,0,840	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	0/1:23,4,0:27:99:99,0,903,168,916,1083	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	0/1:23,4,0:27:99:99,0,903,168,916,1083	18	0	2	0
chr2	53813024	53813024	A	C	exonic	ERLEC1	.	nonsynonymous SNV	ERLEC1:NM_001127398:exon10:c.A1015C:p.N339H	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.999	D	0.982	D	0.000	D	1.000	N	.	.	3.8	T	-0.432	T	0.280	T	0.658	3.600	18.33	5.77	2.326	8.713	16.395	0.175	0.0826024780415	0.0009	0.000199681	0.0012	0.0003	0.0007	0	0	0.0018	0	0.0010	0.0012225	189	154602	rs139630231	0.0016	0.0016	0.0017	0.0015	0.0020	0.0016	0.0015	0.0019	0.0019	0.0001	0.0005	0	0	0.0002	0.0009	0.0020	0.0011	0.0008	0.0009	0.0009	0.0011	0.0008	0.0016	0.0008	0.0007	0.0014	0.0013	0.0002	0.0077	0.0004	0	0	9.414e-05	0	0.0016	0	0.0008	0.249	0.28271	T	0.156	0.31833	T	0.999	0.77913	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.46	0.71463	M	3.8	0.48769	T	-1.95	0.47175	N	0.8	0.84817	-0.4321	0.70998	T	0.280	0.65189	T	9	0.10999063	0.20540	T	0.082602	0.73936	D	0.175	0.44197	.	.	0.531342499125	0.52783	0.7136145514444947	0.71304	0.619018765651	0.56272	0.638254642487	0.58315	T	0.22811	0.59357	T	-0.25062	0.14021	T	-0.138632	0.60236	T	0.0541893295129363	0.06222	T	0.947605	0.79780	D	0.2852898	0.51551	0.26691777	0.52543	0.2852898	0.51550	0.26691777	0.52542	-3.916	0.63377	T	.	.	0.150	0.33249	B	.;.;.	.;.;.	4.223946	0.63913	24.6	0.99126054744599512	0.53116	0.95996	0.67064	D	AEFBCI	0.896859	0.83839	D	0.603790936126484	0.73412	5.962233	0.665339639922427	0.79759	7.150421	0.999994021826585	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.77	5.77	0.91077	8.736000	0.91258	11.277000	0.91602	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.395	0.83423	911	0.21964	.;Protein OS9-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	1386.98	35	chr2	53813024	.	A	C	1386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.637;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-8.220e-01;SOR=0.739	GT:AD:DP:GQ:PL	0/1:69,60:129:99:1401,0,1627	20	0	1	0
chr2	55672909	55672909	C	G	exonic	PNPT1	.	nonsynonymous SNV	PNPT1:NM_033109:exon9:c.G850C:p.V284L,	Combined oxidative phosphorylation deficiency 13, Autosomal recessive;Deafness, autosomal recessive 70, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.012	B	0.000	D	1.000	D	0.49	N	0.38	T	-1.050	T	0.117	T	0.58	2.479	14.25	5.77	2.885	4.570	20.363	0.175	0.0123105707603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.05686	T	0.61	0.07691	T	0.001	0.07471	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.07	0.27075	L	0.38	0.57575	T	-0.38	0.13418	N	0.572	0.59478	-1.0505	0.14258	T	0.117	0.41363	T	10	0.31811035	0.49214	T	0.012311	0.30768	T	0.175	0.44197	0.394	0.41935	0.415205042976	0.41139	0.4911910135296833	0.49040	0.135733827695	0.15309	0.514081656933	0.40794	T	0.015767	0.13159	T	-0.0209662	0.48717	T	-0.267893	0.48033	T	0.635170102119446	0.37833	D	.	.	.	0.4233349	0.62313	0.31171015	0.57177	0.4233349	0.62313	0.31171015	0.57176	-1.663	0.02134	T	0.08988623713153274	0.05541	0.143	0.31381	B	.	.	2.444385	0.31468	18.75	0.97812776300310422	0.36142	0.98800	0.87016	D	AEFDBIJ	0.639302	0.61741	D	-0.0303406047666719	0.40485	2.405057	0.196315068735688	0.49643	3.165191	0.999999999999931	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	4.685000	0.61381	3.312000	0.37472	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	20.363	0.98865	608	0.67185	.	.	.	.	.	.	Uncertain significance	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	1751.98	37	chr2	55672909	.	C	G	1751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=907;ExcessHet=0.0000;FS=1.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-9.500e-01;SOR=0.888	GT:AD:DP:GQ:PL	0/1:112,73:185:99:1766,0,2890	20	0	1	0
chr2	60787527	60787527	A	G	exonic	PAPOLG	.	nonsynonymous SNV	PAPOLG:NM_022894:exon15:c.A1303G:p.M435V,	.	.	.	.	.	.	.	.	.	.	.	2341001	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.942	P	0.949	D	0.000	D	1.000	D	1.795	L	.	.	-0.421	T	0.319	T	0.898	3.584	18.26	5.41	2.022	6.923	11.237	0.528	0.00674578660019	.	.	8.438e-05	0.0001	0.0004	0	0	7.704e-05	0	0	7.76e-05	12	154602	rs531545418	6.637e-05	6.704e-05	7.216e-05	6.052e-05	0.0004	5.563e-05	5.153e-05	0.0003	0.0002	5.976e-05	0.0004	0	2.52e-05	1.873e-05	0.0002	5.216e-05	6.625e-05	0.0001	5.913e-05	5.91e-05	3.854e-05	8.068e-05	0.0003	3.077e-05	2.21e-05	8.881e-05	5.389e-05	2.412e-05	0	0.0003	0	0	0	0	4.41e-05	0.0005	0	0.101	0.68238	T	0.208	0.63109	T	0.203	0.29776	B	0.114	0.31755	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.835	0.48228	L	.	.	.	-2.54	0.59389	D	0.689	0.69474	-0.4206	0.71373	T	0.319	0.68848	T	9	0.4466288	0.58437	T	0.006746	0.17812	T	0.528	0.80067	0.57	0.69299	0.761725014765	0.75955	0.755533015738392	0.75500	0.828076181443	0.67503	0.793049573898	0.80906	T	0.084432	0.37277	T	0.171351	0.71247	D	0.330323	0.89522	D	0.136609569191933	0.15980	T	0.920508	0.71260	D	0.45826307	0.64563	0.31622043	0.57604	0.45826307	0.64563	0.31622043	0.57603	-8.716	0.65850	D	.	.	0.145	0.54346	B	.;.	.;.	4.403021	0.68047	25.2	0.99429335503709004	0.64179	0.99564	0.97489	D	AEFBI	0.730609	0.67795	D	0.456186003266956	0.64554	4.712672	0.523149522365889	0.69551	5.376545	0.986439182449511	0.31063	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	7.022000	0.76169	11.271000	0.91406	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.863:0.0:0.0:0.137	11.237	0.48177	697	0.58201	Poly(A) polymerase, RNA-binding domain;Poly(A) polymerase, RNA-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	769.98	35	chr2	60787527	.	A	G	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.827;SOR=0.643	GT:AD:DP:GQ:PL	0/1:30,29:59:99:784,0,763	20	0	1	0
chr2	60921972	60921972	A	G	exonic	REL	.	nonsynonymous SNV	REL:NM_001291746:exon10:c.A1201G:p.T401A	.	.	431	1067	24	0	0	24	0.0111214	.	.	733528	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.976	N	1.000	N	0	N	1.06	T	-0.984	T	0.040	T	0.066	-0.604	1.305	-3.03	-0.161	-0.335	7.564	0.036	.	.	0.00459265	0.0033	0.0003	0.0005	0	0	0.0005	0.0077	0.0211	0.0028201	436	154602	rs140572082	0.0016	0.0016	0.0009	0.0022	0.0208	0.0015	0.0015	0.0200	0.0197	2.987e-05	0.0003	0	2.519e-05	0	0.0061	0.0003	0.0018	0.0208	0.0009	0.0009	0.0006	0.0012	0.0219	0.0008	0.0007	0.0186	0.0173	9.623e-05	0	0.0001	0	0	0	0.0034	0.0004	0.0009	0.0219	0.931	0.02361	T	0.653	0.06666	T	0.0	0.02946	B	0.001	0.04355	B	0.975791	0.08128	N	0.989793	0.999933	0.19853	N	0.72	0.18721	N	1.06	0.40749	T	-0.55	0.23372	N	0.032	0.03956	-0.9844	0.33975	T	0.040	0.17106	T	10	0.0020952523	0.00030	T	.	.	.	0.036	0.09122	.	.	0.280695755116	0.27685	0.33204263853791494	0.33117	0.0243229922235	0.02469	0.292723655701	0.09320	T	0.079147	0.36059	T	-0.672401	0.00053	T	-0.722377	0.04681	T	0.00769686937979461	0.00090	T	0.536146	0.17993	T	0.0357839	0.04279	0.030290687	0.01466	0.0357839	0.04279	0.030290687	0.01466	-3.865	0.21779	T	.	.	0.068	0.02702	B	.;.	.;.	0.207448	0.05916	2.354	0.24107665710983678	0.01050	0.02465	0.06921	N	AEFDGBI	0.016011	0.00335	N	-1.32432753801039	0.03398	0.1517489	-1.2522205290029	0.05098	0.2421176	0.39373419388631	0.20069	0.67177	0.52595	0	0.702456	0.74545	0	0.679469	0.61720	0	0.635551	0.53088	0	.	.	5.4	-3.03	0.05100	-0.361000	0.07664	-0.706000	0.07772	-0.056000	0.16711	0.014000	0.18986	0.000000	0.08366	0.972000	0.54974	0.3146:0.0:0.5438:0.1415	7.564	0.27033	578	0.69858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1341.98	43	chr2	60921972	.	A	G	1341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=829;ExcessHet=0.0000;FS=4.261;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=-1.450e-01;SOR=0.929	GT:AD:DP:GQ:PL	0/1:84,51:135:99:1356,0,2379	20	0	1	0
chr2	73081099	73081101	TCC	-	exonic	RAB11FIP5	.	nonframeshift deletion	RAB11FIP5:NM_001371272:exon4:c.2131_2133del:p.G712del,	.	.	481	755	173	66	47	352	0.168044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1438.94	11	chr2	73081095	.	TTCCTCC	T,TTCC	1438.94	.	AC=6,2;AF=0.143,0.048;AN=42;BaseQRankSum=0.812;DP=242;ExcessHet=3.5521;FS=2.847;InbreedingCoeff=-0.2414;MLEAC=6,2;MLEAF=0.143,0.048;MQ=60.00;MQRankSum=0.00;QD=16.54;ReadPosRankSum=0.180;SOR=0.993	GT:AD:DP:GQ:PL	0/1:8,4,0:12:99:144,0,324,168,336,504	13	0	6	0
chr2	73385912	73385912	-	GGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGA:p.E28_A29insE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:4,49,0,0,0,0:53:11:1900,0,11,1913,159,2071,1913,159,2071,2071,1913,159,2071,2071,2071,1913,159,2071,2071,2071,2071	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	0/1:4,49,0,0,0,0:53:11:1900,0,11,1913,159,2071,1913,159,2071,2071,1913,159,2071,2071,2071,1913,159,2071,2071,2071,2071	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	0/1:4,49,0,0,0,0:53:11:1900,0,11,1913,159,2071,1913,159,2071,2071,1913,159,2071,2071,2071,1913,159,2071,2071,2071,2071	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	0/1:4,49,0,0,0,0:53:11:1900,0,11,1913,159,2071,1913,159,2071,2071,1913,159,2071,2071,2071,1913,159,2071,2071,2071,2071	0	4	5	0
chr2	75652233	75652233	G	A	exonic	MRPL19	.	nonsynonymous SNV	MRPL19:NM_014763:exon3:c.G313A:p.V105I,	.	.	441	1063	17	1	0	19	0.00885781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.049	B	0.139	B	0.006	N	1.000	D	2.1	M	.	.	-0.902	T	0.160	T	0.053	1.877	12.24	-0.463	-0.205	2.018	10.753	0.093	.	0.0066	0.00698882	0.0064	0.0015	0.0051	0	0.0038	0.0089	0.0067	0.0050	0.0067205	1039	154602	rs41382847	0.0078	0.0079	0.0077	0.0078	0.0135	0.0076	0.0076	0.0110	0.0101	0.0015	0.0069	0.0156	7.605e-05	0.0035	0.0135	0.0084	0.0089	0.0051	0.0072	0.0072	0.0072	0.0071	0.0106	0.0068	0.0067	0.0093	0.0088	0.0019	0.0648	0.0106	0.0173	0	0.0035	0.0238	0.0092	0.0118	0.0077	0.337	0.12837	T	0.609	0.18232	T	0.049	0.22227	B	0.139	0.33484	B	0.005705	0.32572	N	0.350899	0.820154	0.34764	D	2.215	0.62545	M	.	.	.	-0.62	0.18248	N	0.131	0.13341	-0.9021	0.47771	T	0.160	0.49497	T	9	0.0036410093	0.00067	T	.	.	.	0.093	0.26882	.	.	0.388970301349	0.38507	0.38865756458208917	0.38780	0.124701401956	0.14047	0.263330161572	0.05293	T	0.02843	0.20599	T	-0.562607	0.00245	T	-0.574808	0.15011	T	0.0129354608994399	0.00223	T	0.846715	0.52677	T	0.061409265	0.12713	0.058713328	0.10896	0.061409265	0.12713	0.058713328	0.10895	-4.238	0.27298	T	.	.	0.071	0.08802	B	.;.;.;.	.;.;.;.	1.401483	0.18154	13.58	0.88444799273911778	0.17982	0.87846	0.47528	D	AEFBI	0.224617	0.34882	N	-0.429890856278066	0.24428	1.318859	-0.37311085757294	0.25802	1.421183	0.988494046095323	0.31535	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.85	-0.463	0.11557	2.128000	0.41668	0.714000	0.20960	-0.113000	0.14837	1.000000	0.71638	0.981000	0.30433	0.996000	0.76049	0.3156:0.0:0.6844:0.0	10.753	0.45421	958	0.09170	.;.;.;.	RP11-342K6.2|MRPL19	Muscle_Skeletal|Nerve_Tibial	GCFC2	Brain_Nucleus_accumbens_basal_ganglia	.	Likely benign	0	0	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	325.98	33	chr2	75652233	.	G	A	325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.140e-01;DP=737;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.94;ReadPosRankSum=-2.200e-02;SOR=0.576	GT:AD:DP:GQ:PL	0/1:29,18:47:99:340,0,665	20	0	1	0
chr2	75689214	75689214	G	T	exonic	GCFC2	.	nonsynonymous SNV	GCFC2:NM_001201334:exon10:c.C844A:p.Q282K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.027	B	0.012	B	0.089	N	0.994	N	0.955	L	2.63	T	-0.961	T	0.020	T	0.112	-0.783	0.722	3.8	1.033	0.741	7.753	0.058	0.00321354024211	.	0.000399361	9.148e-05	0	0	0.0012	0	1.511e-05	0	0	8.41e-05	13	154602	rs187749452	9.14e-06	1.642e-05	9.821e-06	8.457e-06	0.0002	5.1e-06	3.93e-06	0.0001	8.856e-05	0	0	0	0.0002	0	0	0	0	4.781e-05	2.629e-05	2.625e-05	1.286e-05	4.032e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.381e-05	0	0	0	0	0.0006	0	0	0	0	0.0002	0.858	0.02684	T	0.188	0.28669	T	0.027	0.19556	B	0.012	0.16012	B	0.088765	0.20463	N	0.523932	0.999268	0.23357	N	0.84	0.21119	L	2.62	0.12988	T	-0.36	0.13035	N	0.181	0.24260	-0.9610	0.38993	T	0.020	0.08453	T	10	0.012213767	0.00263	T	0.003214	0.07057	T	0.058	0.16647	.	.	0.167679373172	0.16340	0.18075085904401533	0.17994	0.114616797068	0.12926	0.284994721413	0.08198	T	0.016387	0.13553	T	-0.550707	0.00289	T	-0.657744	0.08418	T	0.024569147987575	0.01217	T	0.610139	0.23115	T	0.06803471	0.14787	0.049918775	0.07728	0.06803471	0.14786	0.049918775	0.07728	-6.051	0.46703	T	.	.	0.079	0.07412	B	.;.	.;.	2.056745	0.26148	17.02	0.72012629930230654	0.09825	0.48190	0.28151	N	AEFBI	0.085655	0.17364	N	-0.485645776220878	0.22551	1.204894	-0.316637581225131	0.27561	1.530203	0.00920931828376598	0.11815	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.71	3.8	0.42887	0.535000	0.22822	4.881000	0.45666	0.676000	0.76740	0.913000	0.31760	1.000000	0.68203	0.981000	0.58702	0.0:0.1671:0.6291:0.2038	7.753	0.28076	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	768.98	35	chr2	75689214	.	G	T	768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=737;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.69;ReadPosRankSum=2.03;SOR=0.714	GT:AD:DP:GQ:PL	0/1:21,28:49:99:783,0,497	20	0	1	0
chr2	84443366	84443366	C	T	exonic	SUCLG1	.	nonsynonymous SNV	SUCLG1:NM_003849:exon3:c.G236A:p.G79D,	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), Autosomal recessive	YES	0	1515	7	0	0	7	0.00230491	.	.	200025	Mitochondrial_DNA_depletion_syndrome|Mitochondrial_DNA_depletion_syndrome_9|not_provided|SUCLG1-related_disorder|not_specified	MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698|MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.3	H	-2.8	D	1.065	D	0.917	D	0.978	4.098	21.1	5.9	2.808	7.818	17.771	0.915	0.359913555663	0.0011	0.000599042	0.0014	0.0003	0.0010	0	0.0002	0.0023	0.0033	0	0.0013842	214	154602	rs143030960	0.0014	0.0014	0.0014	0.0014	0.0023	0.0014	0.0014	0.0015	0.0015	0.0002	0.0011	0.0060	0	0.0002	0.0023	0.0016	0.0016	3.478e-05	0.0010	0.0010	0.0010	0.0009	0.0014	0.0008	0.0008	0.0011	0.0011	0.0004	0.0066	0.0006	0.0066	0	0	0	0.0014	0.0005	0	0.002	0.72154	D	0.005	0.72224	D	0.998	0.73220	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.75	0.99567	H	-2.8	0.91076	D	-6.27	0.90648	D	0.983	0.99260	1.065	0.98458	D	0.917	0.97267	D	10	0.16022444	0.30085	T	0.359914	0.92485	D	0.915	0.97776	.	.	0.9926914044	0.99260	0.948245519256547	0.94807	0.292823477576	0.31705	0.750353336334	0.74499	T	0.788196	0.94471	D	0.176874	0.71756	D	0.474507	0.94093	D	0.222433403134346	0.21584	T	0.982502	0.94093	D	0.9234007	0.93580	0.83897597	0.90770	0.9234007	0.93581	0.83897597	0.90771	-11.023	0.79785	D	0.47542989893253995	0.55509	0.285	0.51763	B	.	.	5.097245	0.85145	28.5	0.99566450329433309	0.72136	0.98923	0.88681	D	AEFGBI	0.957157	0.97616	D	1.07405079728207	0.97624	16.45562	0.971905966767046	0.98006	17.21681	0.999999999999843	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	7.892000	0.85858	7.587000	0.61135	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.786000	0.37147	0.0:1.0:0.0:0.0	17.771	0.88401	807	0.43470	CoA-binding|CoA-binding	.	.	.	.	.	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	1784.11	34	chr2	84443366	.	C	T	1784.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.626e+00;DP=798;ExcessHet=0.1072;FS=1.342;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=0.177;SOR=0.863	GT:AD:DP:GQ:PL	0/1:30,34:64:99:839,0,874	19	0	2	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C	.	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.572	P	0.148	B	0.002	N	1.000	D	1.87	L	4.11	T	-0.879	T	0.010	T	0.568	2.034	12.76	2.43	1.049	0.890	10.548	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.4048	26857.9	353	chr2	94876731	.	C	T	26857.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.609e+00;DP=7291;ExcessHet=25.1139;FS=3.279;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=57.21;MQRankSum=-2.034e+01;QD=3.85;ReadPosRankSum=-1.165e+00;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,31:356:99:0|1:94876731_C_T:165,0,8329:94876731	4	0	17	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	0/1:175,45:220:99:.:.:828,0,4921	0	0	21	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H,	.	.	432	686	404	0	0	404	0.227477	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0.235	N	2.59	T	-0.942	T	0.018	T	0.062	0.675	7.614	-0.833	0.028	1.770	6.110	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7228.38	236	chr2	95855406	.	C	G	7228.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.43;DP=5612;ExcessHet=17.4423;FS=6.424;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=53.45;MQRankSum=-6.363e+00;QD=1.79;ReadPosRankSum=-3.638e+00;SOR=1.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:208,43:251:99:.:.:577,0,5998	6	0	15	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S,	.	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.62	T	-0.930	T	0.011	T	0.014	-2.217	0.005	-0.838	-0.224	0.602	6.069	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	75221.74	386	chr2	95855549	.	T	C	75221.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.304e+00;DP=7464;ExcessHet=54.0936;FS=12.010;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=44.23;MQRankSum=-1.248e+01;QD=10.32;ReadPosRankSum=0.574;SOR=1.209	GT:AD:DP:GQ:PL	0/1:212,141:353:99:2822,0,5835	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	0/1:209,94:303:99:.:.:2349,0,5781	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	0/1:254,36:290:99:209,0,10028	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	0/1:207,71:278:99:.:.:1822,0,5857	0	0	21	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4,	.	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28198.39	155	chr2	95859969	.	A	AT	28198.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.047e+00;DP=3277;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.329e+00;QD=8.84;ReadPosRankSum=0.032;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,19:134:99:0|1:95859969_A_AT:431,0,4689:95859969	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|1:115,19:134:99:0|1:95859969_A_AT:431,0,4689:95859969	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|1:112,18:130:99:0|1:95859969_A_AT:398,0,4608:95859969	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	0/1:112,17:129:99:378,0,2908	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|1:106,16:122:99:0|1:95860002_T_A:353,0,4343:95860002	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|1:105,16:121:99:0|1:95860002_T_A:356,0,4306:95860002	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|1:92,15:107:99:0|1:95860020_G_A:353,0,3806:95860020	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|1:92,15:107:99:0|1:95860020_G_A:353,0,3806:95860020	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	0/1:80,11:91:99:222,0,2213	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|1:143,29:172:99:0|1:95927222_G_GAT:787,0,5897:95927222	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|1:153,42:195:99:0|1:95927222_G_GAT:1303,0,6277:95927222	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|1:166,51:217:99:0|1:95927222_G_GAT:1642,0,6817:95927222	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|1:186,78:264:99:0|1:95927222_G_GAT:2715,0,7575:95927222	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|1:205,99:304:99:0|1:95927222_G_GAT:3520,0,8298:95927222	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|1:209,100:309:99:0|1:95927222_G_GAT:3550,0,8317:95927222	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|1:126,48:174:99:0|1:95929092_T_C:1617,0,5026:95929092	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|1:143,62:205:99:0|1:95929092_T_C:2173,0,5787:95929092	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|1:159,73:232:99:0|1:95929092_T_C:2587,0,6446:95929092	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|1:162,78:240:99:0|1:95929092_T_C:2788,0,6568:95929092	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|1:161,82:243:99:0|1:95929092_T_C:2950,0,6493:95929092	1	0	20	0
chr2	96115824	96115824	T	C	exonic	ADRA2B	.	nonsynonymous SNV	ADRA2B:NM_000682:exon1:c.A326G:p.D109G,	Epilepsy, myoclonic, familial adult, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	3.92	H	-2.02	D	0.861	D	0.822	D	0.923	4.436	23.6	4.48	1.895	7.868	11.833	0.949	0.290049764217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	4.095	0.97289	H	.	.	.	.	.	.	0.946	0.95374	0.861	0.95163	D	0.822	0.94019	D	9	0.98468006	0.98677	D	0.29005	0.90532	D	.	.	0.933	0.98990	0.810750342552	0.80897	0.9818756798931852	0.98179	.	.	0.911249995232	0.97587	D	0.762766	0.93586	D	0.50331	0.94381	D	0.485193	0.94302	D	0.984927415847778	0.76075	D	0.999138	0.99663	D	0.817508	0.85052	0.8241972	0.89809	0.817508	0.85054	0.8241972	0.89809	-11.285	0.81198	D	.	.	0.994	0.94980	P	.	.	5.489903	0.91472	32	0.99777439819834524	0.86433	0.91577	0.53820	D	AEFDGBCI	0.962376	0.98394	D	0.888191481883278	0.91168	10.74938	0.769358477230547	0.87597	9.27663	0.999999999942353	0.74766	0.676563	0.55306	0	0.588066	0.40923	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	4.48	4.48	0.53973	8.017000	0.88732	7.913000	0.74126	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	11.833	0.51581	295	0.88218	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1435.98	41	chr2	96115824	.	T	C	1435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=1016;ExcessHet=0.0000;FS=3.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=0.094;SOR=0.692	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1450,0,1167	20	0	1	0
chr2	96619749	96619749	T	C	exonic	KANSL3	.	nonsynonymous SNV	KANSL3:NM_001115016:exon4:c.A400G:p.M134V	.	.	433	1088	1	0	0	1	0.000459348	.	.	2716059	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.011	N	1.000	N	-0.345	N	1.12	T	-0.992	T	0.032	T	0.091	0.592	7.191	0.307	0.056	-0.213	5.363	0.060	0.00466739238787	.	.	8.363e-05	0	0	0	0	9.297e-05	0	0.0001	3.88e-05	6	154602	rs370590181	2.208e-05	2.257e-05	1.687e-05	2.742e-05	0.0011	1.582e-05	1.378e-05	0.0005	0.0003	0	0.0001	0	0	0	0.0011	1.479e-05	5.148e-05	2.514e-05	1.971e-05	1.97e-05	3.854e-05	0	6.542e-05	5.24e-06	2.45e-06	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0.0005	0	0.589	0.05826	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.010893	0.29744	N	0.401640	1	0.81001	D	-0.83	0.01527	N	1.12	0.38718	T	-0.09	0.08340	N	0.145	0.14622	-0.9915	0.32218	T	0.032	0.13592	T	10	0.02164501	0.00522	T	0.004667	0.11597	T	0.060	0.17295	.	.	0.043077524339	0.03247	0.18248174036570855	0.18167	0.230142155962	0.25565	0.369675278664	0.20785	T	.	.	.	-0.42816	0.01521	T	-0.660463	0.08236	T	0.0134920640124277	0.00247	T	0.743426	0.36288	T	.	.	.	.	.	.	.	.	-0.586	0.00638	T	.	.	0.053	0.00259	B	.	.	0.280984	0.06578	3.068	0.77428874588156449	0.11872	0.33792	0.24913	N	AEFBI	0.116959	0.22933	N	-0.967343415335847	0.09307	0.439956	-0.807070427958418	0.14325	0.7478873	0.981082319076267	0.30215	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.59	0.307	0.15057	-0.213000	0.09309	-1.734000	0.04824	-0.121000	0.13915	0.001000	0.13787	0.000000	0.08366	0.998000	0.85391	0.0:0.3389:0.1459:0.5152	5.363	0.15402	204	0.92044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1271.98	34	chr2	96619749	.	T	C	1271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.830e-01;DP=788;ExcessHet=0.0000;FS=1.563;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=0.495;SOR=0.500	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1286,0,1568	20	0	1	0
chr2	96842402	96842402	C	T	exonic	ANKRD23	.	nonsynonymous SNV	ANKRD23:NM_144994:exon2:c.G137A:p.R46Q,	.	.	375	1121	24	2	0	28	0.0123348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.003	B	0.001	B	0.866	N	0.984	D	0.46	N	-0.08	T	-1.074	T	0.079	T	0.057	0.799	8.206	-6.83	-1.283	-1.378	6.77	0.033	0.0136136329658	0.0044	0.00319489	0.0043	0.0018	0.0029	0.0016	0.0005	0.0052	0.0033	0.0064	0.0010673	165	154602	rs143372458	0.0053	0.0053	0.0052	0.0055	0.0336	0.0052	0.0052	0.0298	0.0283	0.0034	0.0040	0.0056	0.0012	0.0009	0.0336	0.0055	0.0061	0.0065	0.0047	0.0047	0.0049	0.0046	0.0071	0.0044	0.0043	0.0066	0.0064	0.0015	0.0351	0.0035	0.0058	0.0014	0.0005	0.0442	0.0071	0.0062	0.0052	0.298	0.14894	T	0.508	0.10893	T	0.003	0.11197	B	0.001	0.04355	B	0.866014	0.08859	N	0.907894	0.999879	0.19925	N	1.525	0.38595	L	-0.29	0.67712	T	0.28	0.05503	N	0.113	0.21449	-1.0743	0.08493	T	0.079	0.31466	T	10	0.004486352	0.00092	T	0.013614	0.33144	T	0.033	0.08068	.	.	0.384252928164	0.38032	0.11811522296144829	0.11738	0.174969425487	0.19695	0.191902413964	0.00260	T	0.011947	0.10582	T	-0.598926	0.00148	T	-0.630342	0.10389	T	0.00180462947194861	0.00018	T	0.49795	0.15494	T	0.025929948	0.01587	0.0338767	0.02356	0.025929948	0.01586	0.0338767	0.02356	-2.884	0.12776	T	.	.	0.093	0.15115	B	.;.;.	.;.;.	-0.280197	0.02706	0.354	0.82545391951555647	0.14248	0.03294	0.08346	N	AEFBCI	0.036542	0.04886	N	-1.64690095529547	0.01048	0.04547421	-1.63492810835428	0.01456	0.0658473	0.999567174860757	0.40425	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.07	-6.83	0.01532	-1.346000	0.02741	-3.498000	0.02741	-1.699000	0.00759	0.090000	0.22578	0.000000	0.08366	0.103000	0.18424	0.2379:0.1705:0.0:0.5916	6.77	0.22775	120	0.95183	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2305.11	41	chr2	96842402	.	C	T	2305.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.09;DP=960;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=0.998;SOR=0.714	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1293,0,1349	19	0	2	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|1:133,59:192:99:0|1:97513219_T_C:2077,0,5407:97513219	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|1:139,63:202:99:0|1:97513219_T_C:2227,0,5639:97513219	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|1:153,74:227:99:0|1:97513244_G_T:2647,0,6071:97513244	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|1:155,79:234:99:0|1:97513244_G_T:2815,0,6248:97513244	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|1:155,79:234:99:0|1:97513244_G_T:2815,0,6248:97513244	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|1:156,86:242:99:0|1:97513268_C_T:3142,0,6271:97513268	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|1:157,88:245:99:0|1:97513268_C_T:3182,0,6292:97513268	0	0	20	1
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C,	.	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	104689.47	413	chr2	97513271	.	T	C	104689.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.750e-01;DP=5492;ExcessHet=51.1880;FS=3.187;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.14;MQRankSum=-5.077e+00;QD=19.08;ReadPosRankSum=-6.500e-01;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,88:245:99:0|1:97513268_C_T:3182,0,6292:97513268	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|1:156,90:246:99:0|1:97513268_C_T:3234,0,6215:97513268	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	0/1:96,43:139:99:767,0,2424	0	0	20	1
chr2	100298868	100298868	G	T	exonic	LONRF2	.	nonsynonymous SNV	LONRF2:NM_198461:exon7:c.C1444A:p.H482N	.	.	425	1092	5	0	0	5	0.00228415	.	.	2812172	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.003	B	0.016	B	0.002	N	0.822	D	-0.72	N	1.05	T	-1.068	T	0.019	T	0.068	0.598	7.222	2.09	0.876	1.396	8.965	0.049	.	0.0074	0.00319489	0.0074	0.0024	0.0027	0	0.0219	0.0102	0.0033	0.0008	0.0074708	1155	154602	rs116702638	0.0094	0.0094	0.0097	0.0091	0.0107	0.0093	0.0092	0.0105	0.0105	0.0013	0.0038	0.0054	0	0.0193	0.0024	0.0107	0.0067	0.0010	0.0070	0.0070	0.0069	0.0072	0.0098	0.0067	0.0065	0.0091	0.0089	0.0019	0	0.0042	0.0049	0	0.0210	0	0.0098	0.0076	0.0010	0.166	0.23183	T	0.517	0.10572	T	0.003	0.11197	B	0.016	0.17743	B	0.002062	0.37317	N	0.258855	0.715228	0.34796	D	-0.425	0.02884	N	1.05	0.39990	T	-2.17	0.49018	N	0.211	0.23506	-1.0678	0.09903	T	0.019	0.08173	T	10	0.00684464	0.00156	T	.	.	.	0.049	0.13647	.	.	0.295226631146	0.29124	0.32937313727823714	0.32850	0.389715505407	0.40204	0.481564313173	0.36272	T	0.022653	0.17425	T	-0.636122	0.00088	T	-0.675491	0.07261	T	0.0163635422777987	0.00405	T	0.652235	0.26282	T	0.08047845	0.18442	0.09920867	0.23679	0.08047845	0.18442	0.09920867	0.23678	-8.521	0.64568	D	.	.	0.141	0.31023	B	.;.	.;.	0.916531	0.12909	9.421	0.75059455686708343	0.10929	0.57950	0.30511	D	AEFDGBI	0.096426	0.19465	N	-0.818687413691486	0.12834	0.6281359	-0.70805924372528	0.16760	0.8881217	0.999783068285757	0.43007	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.09	2.09	0.26154	1.117000	0.30848	1.121000	0.24244	-0.106000	0.15538	0.911000	0.31706	0.002000	0.18203	0.037000	0.13953	0.0:0.1467:0.5877:0.2655	8.965	0.35031	615	0.66512	Zinc finger, RING-type|Zinc finger, RING-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2654.11	33	chr2	100298868	.	G	T	2654.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.05;DP=919;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.880;SOR=0.702	GT:AD:DP:GQ:PL	0/1:57,64:121:99:1417,0,1484	19	0	2	0
chr2	102235010	102235010	G	A	exonic	IL1RL2	.	nonsynonymous SNV	IL1RL2:NM_001351448:exon8:c.G985A:p.A329T	.	.	435	1020	65	2	0	69	0.0327169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.964	D	0.595	P	0.049	N	0.564	N	2.125	M	2.75	T	-1.098	T	0.004	T	0.127	3.511	17.94	3.4	1.140	3.205	12.428	0.107	.	0.0036	0.028754	0.0169	0.0013	0.0072	0.0765	0.0009	0.0045	0.0176	0.0584	0.015679	2424	154602	rs75091099	0.0098	0.0098	0.0082	0.0114	0.0652	0.0097	0.0096	0.0631	0.0622	0.0012	0.0067	0.0070	0.0652	0.0007	0.0290	0.0049	0.0116	0.0564	0.0083	0.0083	0.0072	0.0095	0.0707	0.0079	0.0078	0.0647	0.0624	0.0012	0	0.0078	0.0075	0.0707	0.0008	0.0170	0.0057	0.0090	0.0589	0.064	0.44694	T	0.05	0.48855	T	0.964	0.55854	D	0.595	0.50587	P	0.048647	0.23232	N	0.467616	0.57825	0.31234	N	1.39	0.34934	L	2.75	0.11622	T	-2.78	0.59226	D	0.074	0.04790	-1.0976	0.04394	T	0.004	0.01435	T	10	0.0024054945	0.00036	T	.	.	.	0.107	0.30369	.	.	.	.	0.4263791408708797	0.42554	0.220987285755	0.24648	0.283961176872	0.08051	T	0.275429	0.64797	T	-0.632716	0.00092	T	-0.625743	0.10740	T	0.0200631921484089	0.00707	T	0.762324	0.44094	T	0.12541069	0.29400	0.2107837	0.45480	0.12541069	0.29400	0.2107837	0.45479	-9.969	0.76438	D	.	.	0.130	0.34514	B	.;.	.;.	2.545631	0.32935	19.19	0.9987192860215679	0.94989	0.66926	0.33249	D	AEFDBHCI	0.163854	0.29018	N	0.145910387066087	0.48618	3.071912	0.0593109593633821	0.42523	2.573534	0.999999324635554	0.74766	0.55562	0.30534	0	0.61073	0.52368	0	0.615948	0.41167	0	0.665031	0.64506	0	.	.	5.43	3.4	0.38031	3.280000	0.51382	3.752000	0.39687	0.618000	0.50648	0.838000	0.30254	1.000000	0.68203	0.301000	0.24523	0.1128:0.0:0.8872:0.0	12.428	0.54891	818	0.41518	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3682.11	54	chr2	102235010	.	G	A	3682.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.80;DP=968;ExcessHet=0.1072;FS=0.977;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=-1.100e-01;SOR=0.789	GT:AD:DP:GQ:PL	0/1:54,74:128:99:2204,0,1265	19	0	2	0
chr2	104855597	104855597	T	0	exonic	POU3F3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	4762.41	11	chr2	104855597	.	T	C,*	4762.41	.	AC=25,1;AF=0.658,0.026;AN=38;BaseQRankSum=-6.230e-01;DP=340;ExcessHet=0.0665;FS=7.060;InbreedingCoeff=0.2714;MLEAC=26,1;MLEAF=0.684,0.026;MQ=60.00;MQRankSum=0.00;QD=16.71;ReadPosRankSum=0.298;SOR=0.767	GT:AD:DP:GQ:PL	0/1:5,6,0:11:99:131,0,140,146,158,304	3	9	6	2
chr2	107863009	107863009	C	T	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon17:c.C2446T:p.R816C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.0	B	.	.	0.922	N	-1.995	N	2.14	T	-0.989	T	0.012	T	0.211	-2.419	0.003	2.3	0.150	5.092	6.362	0.099	0.00749810394954	.	.	0.0030	0.0056	0.0018	0.0013	0.0026	0.0026	0.0038	0.0054	3.84e-05	1	26028	rs766011043	3.09e-05	3.763e-05	2.937e-05	3.244e-05	3.214e-05	2.342e-05	2.086e-05	2.333e-05	2.065e-05	0	0	0	0	0.0001	0	3.214e-05	3.419e-05	1.224e-05	6.997e-05	0.0001	5.975e-05	8.106e-05	9.111e-05	3.585e-05	2.677e-05	2.414e-05	1.326e-05	9.111e-05	0	0	0	0	0.0003	0	6.529e-05	0	0	1.0	0.00964	T	0.208	0.26883	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.921769	0.27276	N	-2.425	0.00069	N	2.14	0.19450	T	7.05	0.00003	N	0.39	0.43126	-0.9890	0.32853	T	0.012	0.04747	T	9	0.008809537	0.00200	T	0.007498	0.19899	T	0.099	0.28413	0.351	0.34922	0.0401082797425	0.02173	0.05841745805818003	0.05782	.	.	0.681491017342	0.64482	T	0.019668	0.15628	T	-0.261368	0.12740	T	-0.613214	0.11725	T	0.0050751572938049	0.00055	T	0.779322	0.41328	T	0.046607945	0.07831	0.06377719	0.12685	0.046607945	0.07830	0.06377719	0.12684	5.38	0.00002	T	.	.	0.059	0.00780	B	.	.	3.543328	0.49775	22.8	0.082087098339994405	0.00060	0.02150	0.06324	N	AEFI	0.042708	0.06661	N	-1.15873268568843	0.05638	0.2575266	-0.973235833793755	0.10389	0.5229182	1.09470275652647E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.3	2.3	0.27735	5.109000	0.64456	6.234000	0.55243	-0.679000	0.04243	1.000000	0.71638	1.000000	0.68203	0.381000	0.26357	0.0:0.1351:0.0:0.8649	6.362	0.20640	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1471.98	114	chr2	107863009	.	C	T	1471.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=1600;ExcessHet=0.0000;FS=8.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.10;MQRankSum=-6.730e-01;QD=18.17;ReadPosRankSum=-1.127e+00;SOR=1.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,39:81:99:0|1:107863009_C_T:1486,0,1628:107863009	20	0	1	0
chr2	107863015	107863015	G	C	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon17:c.G2452C:p.E818Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.995	N	2.09	T	-0.957	T	0.010	T	0.125	-3.127	0.001	2.3	0.303	2.248	5.746	0.049	0.00254934695365	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185166956	2.103e-05	2.532e-05	2.095e-05	2.112e-05	2.11e-05	1.492e-05	1.295e-05	1.405e-05	1.174e-05	0	0	0	0	9.527e-05	0	2.11e-05	3.411e-05	0	3.939e-05	4.668e-05	3.026e-05	4.93e-05	4.95e-05	1.452e-05	9.36e-06	1.314e-05	6.64e-06	0	0	0	0	0	0.0003	0	4.95e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999546	0.21009	N	-1.485	0.00523	N	2.09	0.20122	T	1.71	0.00570	N	0.187	0.20395	-0.9565	0.39825	T	0.010	0.03582	T	9	0.03294137	0.01457	T	0.002549	0.05121	T	0.049	0.13647	0.225	0.14960	0.0138822411134	0.00435	0.07698888234091501	0.07634	.	.	0.682731330395	0.64661	T	0.006837	0.06266	T	-0.305926	0.08113	T	-0.677218	0.07155	T	0.020782433699347	0.00778	T	0.378962	0.09121	T	0.046814393	0.07898	0.037605986	0.03450	0.046814393	0.07897	0.037605986	0.03450	-7.209	0.55546	T	.	.	0.171	0.37615	B	.	.	2.369636	0.30405	18.43	0.092779009446700006	0.00091	0.04028	0.09464	N	AEFI	0.037112	0.05053	N	-1.51398607041552	0.01757	0.07695381	-1.29925080203735	0.04441	0.2094958	2.38726055354434E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.3	2.3	0.27735	2.323000	0.43482	4.963000	0.46353	-0.790000	0.03253	1.000000	0.71638	1.000000	0.68203	0.200000	0.21896	0.2226:0.56:0.2174:0.0	5.746	0.17390	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	1401.98	114	chr2	107863015	.	G	C	1401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=1594;ExcessHet=0.0000;FS=8.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.51;MQRankSum=-6.470e-01;QD=18.21;ReadPosRankSum=-8.070e-01;SOR=1.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,37:77:99:0|1:107863009_C_T:1416,0,1568:107863009	20	0	1	0
chr2	107863021	107863021	A	G	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon17:c.A2458G:p.K820E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	0.996	N	-2.045	N	2.1	T	-0.962	T	0.010	T	0.172	-2.039	0.006	2.3	0.312	6.508	7.990	0.118	0.00185178221873	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1425230152	2.042e-05	2.942e-05	2.104e-05	1.979e-05	2.027e-05	1.433e-05	1.239e-05	1.327e-05	1.133e-05	0	0	0	0	9.547e-05	0	2.027e-05	3.427e-05	0	3.978e-05	4.659e-05	3.057e-05	4.977e-05	5.002e-05	1.563e-05	9.45e-06	1.328e-05	6.68e-06	0	0	0	0	0	0.0003	0	5.002e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996059	0.23127	N	-2.455	0.00064	N	2.1	0.19990	T	1.97	0.00421	N	0.296	0.33469	-0.9618	0.38839	T	0.010	0.03627	T	9	0.044572175	0.03428	T	0.001852	0.03219	T	0.118	0.32913	0.274	0.22528	0.0297737177859	0.01360	0.037541671494561835	0.03700	.	.	0.653557062149	0.60491	T	0.006787	0.06218	T	-0.250449	0.14043	T	-0.597529	0.13019	T	0.0781928848828909	0.09754	T	0.654235	0.26451	T	0.065219015	0.13917	0.09678615	0.23011	0.065219015	0.13917	0.09678615	0.23010	-2.853	0.08682	T	.	.	0.082	0.08899	B	.	.	2.731569	0.35759	19.98	0.13604876327655771	0.00274	0.02951	0.07781	N	AEFI	0.021647	0.00987	N	-1.30102668987557	0.03664	0.1640726	-1.08624337370419	0.07970	0.3898958	4.30747365962144E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.3	2.3	0.27735	6.686000	0.74378	9.984000	0.82942	-0.731000	0.03728	1.000000	0.71638	1.000000	0.68203	0.172000	0.21044	0.1351:0.0:0.8649:0.0	7.990	0.29394	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	1292.98	114	chr2	107863021	.	A	G	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.350;DP=1591;ExcessHet=0.0000;FS=4.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.18;MQRankSum=-4.570e-01;QD=17.47;ReadPosRankSum=-5.490e-01;SOR=1.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,34:74:99:0|1:107863009_C_T:1307,0,1577:107863009	20	0	1	0
chr2	108767711	108767711	C	G	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.C7172G:p.T2391S,	.	.	129	1390	3	0	0	3	0.00107797	.	.	448727	not_provided|Familial_acute_necrotizing_encephalopathy	MedGen:C3661900|MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.59	T	0.268	B	0.28	B	.	.	0.997	N	-0.335	N	0.9	T	-1.015	T	0.055	T	0.252	0.775	8.095	4.54	2.736	3.864	8.691	0.170	0.0122518310145	.	.	4.226e-05	0	0.0002	0	0	4.622e-05	0	0	0.0034962	91	26028	rs2433786	0.0040	0.0086	0.0041	0.0039	0.0046	0.0039	0.0039	0.0045	0.0045	0.0009	0.0024	0.0010	0.0001	0.0033	0.0022	0.0046	0.0042	0.0008	0.0051	0.0055	0.0056	0.0046	0.0088	0.0048	0.0047	0.0082	0.0080	0.0018	0	0.0040	0.0009	0.0004	0.0032	0	0.0088	0.0033	0.0012	0.499	0.07772	T	0.161	0.31326	T	0.268	0.31720	B	0.28	0.40294	B	.	.	.	.	0.997912	0.22840	N	0	0.06538	N	0.9	0.45248	T	-0.9	0.24244	N	0.239	0.26957	-1.0151	0.25304	T	0.055	0.23224	T	9	0.021814346	0.00530	T	0.012252	0.30654	T	0.170	0.43303	0.473	0.54859	0.604599270341	0.60143	0.09958770073658234	0.09889	0.363966548102	0.38019	0.43197453022	0.29478	T	0.114465	0.43230	T	-0.495801	0.00604	T	-0.481235	0.24315	T	0.0250890230857195	0.01285	T	0.0423958	0.00299	T	0.056074448	0.10984	0.061345	0.11832	0.056074448	0.10984	0.061345	0.11831	-4.949	0.36281	T	0.11030140206905947	0.09307	0.095	0.15115	B	.	.	3.388128	0.46898	22.4	0.96315430158120496	0.29397	0.89888	0.50651	D	AEFDBI	0.335022	0.43359	N	-0.192695834077233	0.33436	1.89704	0.0102674842455193	0.40192	2.394654	0.999997239845877	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.644132	0.48003	0	0.727631	0.95156	0	.	.	5.47	4.54	0.55220	3.217000	0.50886	3.334000	0.37651	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.3071:0.573:0.1199:0.0	8.691	0.33426	850	0.35610	Ran binding domain|Ran binding domain|Ran 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	611.98	38	chr2	108767711	.	C	G	611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.65;DP=1001;ExcessHet=0.0000;FS=4.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.66;MQRankSum=-1.144e+01;QD=2.31;ReadPosRankSum=1.54;SOR=1.039	GT:AD:DP:GQ:PL	0/1:215,50:265:99:626,0,6016	20	0	1	0
chr2	127627281	127627281	C	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon32:c.C4353A:p.F1451L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.991	D	0.783	P	0.000	D	0.994	D	2.485	M	-3.45	D	-0.672	T	0.270	T	0.574	4.042	20.7	3.9	1.241	1.167	8.050	0.326	0.158242407878	.	.	3.637e-05	0	0	0	0	3.269e-05	0.0012	6.745e-05	2.59e-05	4	154602	rs781673276	2.327e-05	2.326e-05	2.043e-05	2.615e-05	0.0016	1.675e-05	1.478e-05	0.0008	0.0006	0	2.239e-05	0	0	0	0.0016	1.529e-05	9.942e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	0.991	0.64070	D	0.783	0.57419	P	0.000001	0.84330	D	0.056827	0.99431	0.42237	D	3.185	0.88900	M	-3.45	0.94469	D	-5.19	0.87063	D	0.768	0.80572	-0.6721	0.61733	T	0.270	0.64193	T	10	0.8125786	0.80527	D	0.158242	0.83867	D	0.748	0.91328	0.677	0.81496	0.833988851327	0.83241	0.8257265811233876	0.82530	0.477184100314	0.46833	0.623649001122	0.56245	T	0.025091	0.49651	T	0.0821453	0.62290	D	0.0365854	0.72705	D	0.81680953502655	0.47536	D	0.960504	0.85148	D	0.6955315	0.77812	0.5418114	0.73518	0.6955315	0.77814	0.5418114	0.73519	-12.182	0.85726	D	.	.	0.917	0.83999	P	.;.;.	.;.;.	3.437734	0.47809	22.5	0.99866745642968513	0.94457	0.94118	0.60166	D	AEFDBI	0.660338	0.63094	D	0.1422813616026	0.48447	3.056862	0.139020688579472	0.46563	2.90029	0.997657519498631	0.35867	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.78	3.9	0.44240	1.305000	0.33098	0.378000	0.17749	0.596000	0.33519	1.000000	0.71638	0.264000	0.24003	0.974000	0.55675	0.0:0.7559:0.0:0.2441	8.050	0.29734	946	0.12043	FERM domain;FERM domain;FERM 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	1001.98	33	chr2	127627281	.	C	A	1001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.999e+00;DP=779;ExcessHet=0.0000;FS=1.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-8.370e-01;SOR=0.474	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1016,0,990	20	0	1	0
chr2	127632260	127632260	G	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon38:c.G5186A:p.R1729Q,	.	.	151	1351	19	1	0	21	0.00771208	.	.	2812301	not_provided|MYO7B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.798	P	0.173	B	0.003	N	0.968	D	1.89	L	-3.11	D	0.432	D	0.626	D	0.163	3.209	16.75	4.74	2.180	4.018	8.511	0.440	0.187200906884	0.0033	0.00199681	0.0054	0.0015	0.0027	0	0.0018	0.0085	0.0053	0.0017	0.0047994	742	154602	rs190699169	0.0066	0.0066	0.0067	0.0065	0.0077	0.0065	0.0065	0.0076	0.0075	0.0012	0.0049	0.0096	0	0.0010	0.0061	0.0077	0.0056	0.0016	0.0043	0.0043	0.0046	0.0040	0.0064	0.0040	0.0039	0.0059	0.0057	0.0016	0.0088	0.0052	0.0121	0	0.0005	0.0068	0.0064	0.0057	0.0004	0.005	0.63226	D	0.032	0.53426	D	0.798	0.44840	P	0.173	0.35463	B	0.003113	0.35419	N	0.235061	0.85526	0.38633	D	2.07	0.56829	M	-3.11	0.92721	D	-2.94	0.61435	D	0.499	0.53445	0.432	0.89566	D	0.626	0.86846	D	10	0.010098875	0.00226	T	0.187201	0.85924	D	0.440	0.74377	.	.	0.705268275649	0.70270	0.25544587263230817	0.25458	0.477577091457	0.46870	0.379588216543	0.22199	T	0.265597	0.86471	T	-0.291825	0.09455	T	-0.187117	0.55861	T	0.0249095812512221	0.01261	T	0.960204	0.88252	D	0.47223198	0.65427	0.26433262	0.52251	0.47223198	0.65428	0.26433262	0.52250	-7.162	0.55208	T	.	.	0.105	0.19114	B	.;.;.	.;.;.	4.540858	0.71374	25.7	0.99904668835716104	0.97576	0.62386	0.31766	D	AEFDBCI	0.361771	0.45127	N	0.232212449699079	0.52766	3.448751	0.260344191376282	0.53239	3.493936	0.999974361142931	0.50053	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.74	4.74	0.59717	3.386000	0.52232	8.660000	0.77968	0.614000	0.49286	0.995000	0.38783	1.000000	0.68203	0.902000	0.43815	0.1827:0.0:0.8173:0.0	8.511	0.32376	946	0.12043	MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1804.11	38	chr2	127632260	.	G	A	1804.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.71;DP=809;ExcessHet=0.1072;FS=2.367;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=1.29;SOR=0.481	GT:AD:DP:GQ:PL	0/1:29,34:63:99:924,0,661	19	0	2	0
chr2	130120179	130120179	T	0	exonic	POTEF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	88519.64	228	chr2	130120179	.	T	C,*	88519.64	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=-4.490e-01;DP=4771;ExcessHet=0.1361;FS=7.097;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=44.81;MQRankSum=-1.564e+01;QD=20.24;ReadPosRankSum=1.33;SOR=1.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:158,126,0:284:99:.:.:2912,0,4394,3386,4772,8159	4	10	6	0
chr2	130509017	130509017	C	G	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon1:c.G219C:p.R73S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	1.845	L	-1.27	T	-0.567	T	0.392	T	0.161	0.604	7.253	0.109	0.181	0.033	.	0.170	0.0078305631702	.	0.000199681	5.449e-05	0	0.0002	0	0	6.73e-05	0	0	5.17e-05	8	154602	rs565163372	4.636e-05	4.572e-05	4.468e-05	4.806e-05	0.0002	3.715e-05	3.381e-05	4.35e-05	3.978e-05	3.162e-05	0	0	0	0	0.0002	5.546e-05	7.081e-05	0	2.851e-05	4.107e-05	1.391e-05	4.385e-05	6.985e-05	9.66e-06	5.49e-06	5.26e-06	1.97e-06	2.622e-05	0	6.985e-05	0	0	0	0	3.171e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.935	0.51832	L	-1.27	0.79277	T	-0.83	0.22727	N	0.154	0.29544	-0.5666	0.66150	T	0.392	0.74604	T	6	0.04784739	0.04157	T	0.007831	0.20773	T	0.170	0.43303	0.268	0.21576	0.148003135375	0.14442	0.027062630361776367	0.02656	.	.	0.482457220554	0.36396	T	0.017405	0.14204	T	-0.203926	0.20240	T	-0.346686	0.39584	T	0.0406105547533618	0.03802	T	0.777622	0.41060	T	0.24995448	0.47993	0.19455664	0.43084	0.24995448	0.47993	0.19455664	0.43084	-9.231	0.69172	D	.	.	0.543	0.66506	A	.;.;.	.;.;.	1.442591	0.18626	13.84	0.94078087534524812	0.24226	0.00563	0.02562	N	AEFI	0.041189	0.06229	N	-0.684236656993075	0.16471	0.8394566	-0.941226752303721	0.11127	0.5649736	1.11275397622661E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	0.023000	0.13424	.	.	0.179000	0.17797	0.014000	0.18986	0.000000	0.08366	0.003000	0.05239	.	.	.	976	0.04745	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3725.98	39	chr2	130509017	.	C	G	3725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.360e-01;DP=2059;ExcessHet=0.0000;FS=1.280;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.91;MQRankSum=-3.550e-01;QD=10.86;ReadPosRankSum=-3.830e-01;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,162:343:99:0|1:130508957_C_A:3740,0,4648:130508957	20	0	1	0
chr2	135269005	135269005	T	C	exonic	ZRANB3	.	nonsynonymous SNV	ZRANB3:NM_001286568:exon11:c.A1343G:p.N448S	.	.	438	1078	6	0	0	6	0.00277521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.306	B	0.287	B	0.000	D	0.990	D	-0.165	N	-2.97	D	0.048	D	0.552	D	0.065	3.083	16.29	5.55	2.234	3.463	10.367	0.355	0.047852108332	.	.	0.0004	0	0	0	0	0	0	0.0027	0.0002911	45	154602	rs527503710	0.0002	0.0002	9.824e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0007	2.701e-06	0.0003	0.0025	0.0001	0.0001	1.287e-05	0.0002	0.0037	7.59e-05	6.293e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.234	0.18562	T	0.066	0.44501	T	0.294	0.32693	B	0.287	0.40572	B	0.000005	0.62929	D	0.139118	0.990062	0.41080	D	-0.42	0.02904	N	-2.97	0.92007	D	-1.4	0.34596	N	0.24	0.27077	0.048	0.83199	D	0.552	0.83607	D	10	0.016221672	0.00341	T	0.047852	0.63111	D	0.355	0.67600	0.401	0.43081	0.643017298775	0.64006	0.24679131454246303	0.24593	0.0664678907798	0.07414	0.388327896595	0.23435	T	0.004518	0.03927	T	-0.396806	0.02430	T	-0.347376	0.39505	T	0.0599702310969217	0.07165	T	0.967503	0.88224	D	0.087009	0.20245	0.08465792	0.19490	0.087009	0.20245	0.08465792	0.19489	-7.273	0.56003	T	.	.	0.076	0.06525	B	.;.	.;.	3.095253	0.41689	21.4	0.99331245764536857	0.59777	0.93579	0.58603	D	AEFBI	0.321244	0.42410	N	-0.0263890044163785	0.40663	2.418709	0.173675485697843	0.48409	3.057252	0.648606548585139	0.22136	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.55	5.55	0.83298	3.429000	0.52567	6.055000	0.53123	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0733:0.0:0.9267	10.367	0.43215	824	0.40336	.;Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1634.98	34	chr2	135269005	.	T	C	1634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.260e-01;DP=819;ExcessHet=0.0000;FS=0.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.14;ReadPosRankSum=0.183;SOR=0.779	GT:AD:DP:GQ:PL	0/1:42,66:108:99:1649,0,944	20	0	1	0
chr2	142885441	142885441	C	T	exonic	KYNU	.	nonsynonymous SNV	KYNU:NM_001032998:exon2:c.C74T:p.T25M	.	.	423	1087	11	1	0	13	0.00594422	.	.	707742	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.07	T	0.991	D	0.608	P	0.000	D	1.000	N	1.935	M	0.46	T	-0.706	T	0.247	T	0.446	2.004	12.66	4.97	2.584	1.633	7.948	0.191	.	7.7e-05	0.00139776	0.0021	0	0.0027	0	0	0.0003	0.0022	0.0124	0.0018111	280	154602	rs199895914	0.0010	0.0010	0.0006	0.0014	0.0128	0.0009	0.0009	0.0122	0.0119	8.963e-05	0.0011	0	2.519e-05	1.872e-05	0.0019	0.0002	0.0010	0.0128	0.0006	0.0006	0.0004	0.0008	0.0127	0.0005	0.0005	0.0101	0.0092	9.625e-05	0	0	0	0	0	0	0.0005	0.0005	0.0127	0.016	0.57480	D	0.035	0.57104	D	0.976	0.58310	D	0.5	0.47649	P	0.000385	0.44960	D	0.225320	1	0.08975	N	2.74	0.80084	M	0.46	0.64630	T	-1.97	0.48020	N	0.439	0.51137	-0.7057	0.60164	T	0.247	0.61589	T	10	0.008279264	0.00188	T	.	.	.	0.191	0.46948	.	.	0.790655237196	0.78871	0.42017046998309715	0.41933	0.0607266434557	0.06755	0.367408037186	0.20458	T	0.054891	0.29853	T	-0.338039	0.05526	T	-0.247315	0.50082	T	0.074337959309471	0.09248	T	0.735226	0.35853	T	0.10781959	0.25493	0.09831209	0.23432	0.097442456	0.22968	0.11528473	0.27828	-5.837	0.44896	T	.	.	0.108	0.25067	B	.;.;.;.;.	.;.;.;.;.	3.159454	0.42806	21.6	0.99803471985251913	0.88817	0.17750	0.19971	N	AEFBCI	0.127978	0.24556	N	0.1610350199355	0.49335	3.135126	0.0862344356662809	0.43854	2.67869	0.999994528473169	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.97	4.97	0.65419	1.673000	0.37150	3.159000	0.36559	0.599000	0.40250	0.003000	0.16062	0.202000	0.23578	0.588000	0.31090	0.1606:0.7592:0.0:0.0802	7.948	0.29159	841	0.37094	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1733.98	33	chr2	142885441	.	C	T	1733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.599e+00;DP=848;ExcessHet=0.0000;FS=5.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-1.870e-01;SOR=0.409	GT:AD:DP:GQ:PL	0/1:63,78:141:99:1748,0,1406	20	0	1	0
chr2	151379533	151379533	A	-	exonic	TNFAIP6	.	nonframeshift deletion	TNFAIP6:NM_007115:exon6:c.834delA:p.X278X,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/1:11,17,0,3:31:99:319,0,244,390,270,705,330,165,639,678	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	0/1:11,17,0,3:31:99:319,0,244,390,270,705,330,165,639,678	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	0/1:137,56:193:33:33,0,2396	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	0/1:40,40:80:99:865,0,995	17	0	4	0
chr2	166444775	166444775	T	C	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon13:c.A1613G:p.N538S,	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.112	N	1.000	N	-0.69	N	-4.3	D	-0.231	T	0.272	T	0.012	-0.371	2.252	-11.2	-1.564	-4.162	0.705	0.272	.	0.0002	0.00459265	0.0031	0	0	0.0353	0	0.0011	0.0054	0.0012	0.0012613	195	154602	rs78403942	0.0006	0.0006	0.0006	0.0006	0.0143	0.0006	0.0006	0.0133	0.0129	3.053e-05	2.445e-05	0.0048	0.0143	1.908e-05	0.0002	6.933e-05	0.0009	0.0006	0.0007	0.0007	0.0007	0.0007	0.0156	0.0006	0.0006	0.0129	0.0119	2.407e-05	0	0	0.0049	0.0156	9.423e-05	0	7.351e-05	0.0005	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.112093	0.02649	N	1.741270	1	0.08975	N	-1.025	0.01131	N	-4.3	0.97172	D	1.31	0.01488	N	0.029	0.01068	-0.2307	0.76869	T	0.272	0.64401	T	10	0.0064884126	0.00147	T	.	.	.	0.272	0.58758	.	.	0.539879176108	0.53640	0.06481041292915053	0.06420	0.029846534252	0.03076	0.254973471165	0.04310	T	0.452162	0.79260	T	-0.49006	0.00649	T	-0.46439	0.26123	T	0.0132908070502156	0.00238	T	0.466353	0.29103	T	0.025017047	0.01392	0.020557923	0.00142	0.025017047	0.01392	0.020557923	0.00142	-1.94	0.02963	T	.	.	0.064	0.02670	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.837804	0.01035	0.044	0.23336182578870104	0.00982	0.01202	0.04284	N	AEFI	0.082172	0.16635	N	-2.08666205034322	0.00137	0.00586314	-2.10775830047511	0.00179	0.007893968	0.996758219254748	0.34982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	-11.2	0.00099	-4.303000	0.00293	-4.526000	0.02112	-1.097000	0.01519	0.000000	0.06391	0.000000	0.08366	0.206000	0.22070	0.2446:0.1414:0.2306:0.3835	0.705	0.00856	542	0.72843	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1148.98	34	chr2	166444775	.	T	C	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.905;DP=806;ExcessHet=0.0000;FS=1.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.74;ReadPosRankSum=-1.388e+00;SOR=0.536	GT:AD:DP:GQ:PL	0/1:69,49:118:99:1163,0,1761	20	0	1	0
chr2	184937150	184937150	C	G	exonic	ZNF804A	.	nonsynonymous SNV	ZNF804A:NM_194250:exon4:c.C1754G:p.T585S,	.	.	432	1082	7	1	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.024	B	0.005	B	0.005	N	1.000	N	0.895	L	3.46	T	-0.930	T	0.011	T	0.104	0.673	7.600	2.63	0.233	0.285	4.200	0.020	0.0022486078475	7.7e-05	0.000199681	0.0002	0	8.781e-05	0	0	0.0002	0	0.0005	0.0001746	27	154602	rs373736637	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0003	0.0002	0	0.0001	0	2.527e-05	0	0.0007	0.0001	0.0002	0.0004	7.231e-05	7.221e-05	7.716e-05	6.724e-05	0.0008	3.973e-05	3.129e-05	0.0003	0.0002	0	0	6.545e-05	0	0	0	0	8.825e-05	0	0.0008	0.227	0.18498	T	0.738	0.09425	T	0.024	0.19075	B	0.005	0.11217	B	0.004619	0.33568	N	0.210118	1	0.08975	N	2.33	0.66821	M	3.46	0.05249	T	-0.23	0.10656	N	0.071	0.04426	-0.9303	0.44095	T	0.011	0.04274	T	10	0.015689284	0.00329	T	0.002249	0.04287	T	0.020	0.03691	0.134	0.03833	0.043077524339	0.03247	0.0639701319482684	0.06336	0.0334174714276	0.03497	0.312005460262	0.12210	T	0.001972	0.06354	T	-0.52297	0.00423	T	-0.68157	0.06888	T	0.0419196830486211	0.04041	T	0.454055	0.13467	T	0.03717625	0.04717	0.044322427	0.05715	0.03717625	0.04716	0.044322427	0.05714	-2.756	0.07786	T	.	.	0.094	0.14614	B	.;.	.;.	0.865412	0.12382	8.917	0.87965321728069046	0.17614	0.05640	0.11551	N	AEFI	0.045505	0.07449	N	-0.854265832769596	0.11945	0.5793774	-0.765417446010792	0.15344	0.8065327	2.40740943943437E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.5	2.63	0.30420	0.817000	0.26938	-0.462000	0.09033	-0.176000	0.10722	0.876000	0.30908	0.000000	0.08366	0.969000	0.54022	0.1562:0.4669:0.2945:0.0824	4.200	0.09919	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	691.98	59	chr2	184937150	.	C	G	691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=1168;ExcessHet=0.0000;FS=3.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=0.247;SOR=1.094	GT:AD:DP:GQ:PL	0/1:27,25:52:99:706,0,778	20	0	1	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.482	17.82	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,10,6:40:35:.:.:35,0,255,54,264,763	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	0/1:24,10,6:40:35:.:.:35,0,255,54,264,763	0	0	8	4
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	1.000	D	-1.67	N	.	.	-0.977	T	0.034	T	0.646	1.588	11.27	5.02	1.896	6.225	14.399	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5227.32	96	chr2	197523648	.	T	C	5227.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-1.034e+00;DP=1714;ExcessHet=36.0830;FS=391.571;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=60.00;MQRankSum=0.00;QD=3.31;ReadPosRankSum=0.282;SOR=12.797	GT:AD:DP:GQ:PL	0/1:39,20:59:99:203,0,625	0	0	19	2
chr2	199819527	199819527	-	A	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441dupT:p.*148delinsLNLRSPL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:26,0,6,0:32:41:41,119,654,0,535,517,119,654,535,654	2	0	4	0
chr2	199819527	199819527	-	AA	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441_442insTT:p.*148delinsFKLEVPFMSHTLLMQEEL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:26,0,6,0:32:41:41,119,654,0,535,517,119,654,535,654	2	0	4	0
chr2	199925261	199925261	A	G	exonic	C2orf69	.	nonsynonymous SNV	C2orf69:NM_153689:exon2:c.A533G:p.N178S,	.	.	471	1050	0	1	0	2	0.000951475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.084	N	1.000	N	-1.935	N	.	.	-0.980	T	0.011	T	0.01	-0.930	0.379	-12.1	-2.531	-0.322	19.027	0.183	0.000999559515257	0.0002	0.00139776	0.0006	0.0001	0	0.0075	0	5.997e-05	0	0.0001	0.0005692	88	154602	rs141729817	0.0004	0.0004	0.0004	0.0004	0.0061	0.0003	0.0003	0.0055	0.0053	0	0.0002	3.827e-05	0.0061	0	0.0007	0.0002	0.0006	0.0004	0.0005	0.0005	0.0005	0.0005	0.0069	0.0004	0.0004	0.0052	0.0045	0.0001	0	0.0008	0	0.0069	0	0	0.0002	0	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.083606	0.20743	N	0.570907	1	0.08975	N	-0.555	0.02337	N	.	.	.	0.31	0.04022	N	0.008	0.00068	-0.9797	0.35071	T	0.011	0.03949	T	9	0.0035810173	0.00065	T	0.001	0.01073	T	0.183	0.45592	.	.	0.112648838833	0.10856	0.17149742620742983	0.17069	0.264940589873	0.29051	.	.	.	3.5E-4	0.00102	T	-0.725109	0.00026	T	-0.80978	0.01670	T	0.00468297175229741	0.00050	T	0.759724	0.38410	T	0.017233592	0.00257	0.03271385	0.02049	0.017233592	0.00256	0.03271385	0.02048	-5.279	0.39734	T	.	.	0.051	0.00161	B	.	.	-1.609213	0.00235	0.004	0.59567612764797295	0.06255	0.04641	0.10310	N	AEFBI	0.034989	0.04429	N	-2.10421203826457	0.00125	0.005368849	-2.05261452712796	0.00236	0.01040418	0.999996343080032	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.03	-12.1	0.00008	-0.309000	0.08185	-2.928000	0.03221	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.0986:0.1758:0.7256:0.0	19.027	0.92915	640	0.64132	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1051.98	33	chr2	199925261	.	A	G	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.240e-01;DP=764;ExcessHet=0.0000;FS=1.867;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.103;SOR=0.458	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1066,0,985	20	0	1	0
chr2	206306635	206306635	C	T	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.C2107T:p.R703C	.	.	431	1090	1	0	0	1	0.000458505	.	.	2355262	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.143	B	0.003	B	0.573	N	1.000	N	0	N	0.93	T	-1.016	T	0.045	T	0.13	-0.062	3.698	-7.97	-1.652	-0.553	8.868	0.032	0.00577191341456	.	0.000399361	7.501e-05	0	0	0.0003	0	0	0.0011	0.0003	7.12e-05	11	154602	rs184921981	5.748e-05	5.746e-05	5.718e-05	5.777e-05	0.0004	4.744e-05	4.367e-05	0.0002	0.0002	0	0.0001	0	0.0004	0	0.0002	2.968e-05	6.627e-05	0.0003	5.256e-05	5.251e-05	5.143e-05	5.374e-05	0.0008	2.557e-05	1.83e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0.0008	0.104	0.29959	T	0.054	0.47097	T	0.143	0.27649	B	0.003	0.08700	B	0.573088	0.05491	N	1.289450	1	0.08975	N	0	0.06538	N	0.93	0.44065	T	0.22	0.04694	N	0.091	0.06990	-1.0155	0.25175	T	0.045	0.19234	T	10	0.013024062	0.00278	T	0.005772	0.14982	T	0.032	0.07718	.	.	0.110078149338	0.10416	0.05888926746992743	0.05829	0.0915855860622	0.10345	0.240398108959	0.02827	T	0.002163	0.06315	T	-0.513002	0.00483	T	-0.670121	0.07600	T	0.0831001400947571	0.10379	T	.	.	.	0.046945326	0.07941	0.03292648	0.02105	0.046945326	0.07941	0.03292648	0.02104	-2.027	0.03284	T	.	.	0.089	0.13409	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.582184	0.09507	6.284	0.80449250645767001	0.13208	0.01486	0.04939	N	AEFBI	0.049274	0.08495	N	-1.66247654391204	0.00984	0.0426325	-1.76124332711768	0.00891	0.03985588	0.99872791527109	0.37539	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.579976	0.35079	0	.	.	4.42	-7.97	0.01007	-0.564000	0.06027	0.009000	0.13411	-0.598000	0.04625	0.010000	0.18352	0.000000	0.08366	0.003000	0.05239	0.1956:0.2429:0.5615:0.0	8.868	0.34458	875	0.30485	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1734.98	106	chr2	206306635	.	C	T	1734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=1683;ExcessHet=0.0000;FS=0.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=0.579;SOR=0.601	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1749,0,1434	20	0	1	0
chr2	219035598	219035598	T	G	exonic	CFAP65	.	nonsynonymous SNV	CFAP65:NM_001278296:exon4:c.A229C:p.I77L	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.454	P	0.183	B	0.475	N	1.000	N	1.79	L	1.6	T	-1.070	T	0.019	T	0.213	3.451	17.69	-7.63	-0.882	-0.693	6.353	0.025	.	0.0005	0.0071885	0.0036	0.0002	0	0.0466	0	0.0004	0.0033	0.0002	0.00326	504	154602	rs75663378	0.0011	0.0011	0.0011	0.0011	0.0318	0.0011	0.0011	0.0304	0.0298	5.974e-05	2.236e-05	0.0002	0.0318	5.616e-05	0	0.0002	0.0014	0.0002	0.0018	0.0018	0.0013	0.0023	0.0441	0.0016	0.0015	0.0394	0.0376	0.0002	0	0	0.0009	0.0441	0	0	0.0004	0.0014	0.0008	0.219	0.41915	T	0.021	0.92824	D	0.053	0.22573	B	0.022	0.19653	B	0.475097	0.12231	N	0.700200	0.999582	0.20930	N	.	.	.	1.6	0.28604	T	-0.48	0.21860	N	0.292	0.33030	-1.0702	0.09370	T	0.019	0.08033	T	10	0.0034270287	0.00060	T	.	.	.	0.025	0.05312	.	.	0.214338557667	0.21045	0.25884908083715663	0.25798	0.0816263488406	0.09187	0.325879335403	0.14310	T	0.032807	0.22648	T	-0.613135	0.00121	T	-0.612522	0.11781	T	0.00969948854250371	0.00127	T	0.721628	0.35686	T	0.08688568	0.20210	0.06664217	0.13680	0.08688568	0.20210	0.06664217	0.13680	-2.247	0.10010	T	.	.	0.121	0.52252	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.614453	0.09830	6.592	0.93637158098150208	0.23514	0.11540	0.16701	N	AEFBI	0.205932	0.33224	N	-0.789253153377991	0.13589	0.6705467	-0.859833901620405	0.13051	0.6749338	0.374785222071486	0.19904	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.39	-7.63	0.01150	-0.643000	0.05518	-5.371000	0.01744	0.661000	0.55757	0.005000	0.17040	0.000000	0.08366	0.954000	0.50415	0.3643:0.3639:0.0:0.2717	6.353	0.20588	591	0.68823	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1251.98	34	chr2	219035598	.	T	G	1251.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.101e+00;DP=841;ExcessHet=0.0000;FS=0.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-5.980e-01;SOR=0.850	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1266,0,1337	20	0	1	0
chr2	224886119	224886119	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon6:c.G538A:p.G180S	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	3.695	H	-0.79	T	0.634	D	0.715	D	0.691	5.968	36	5.62	2.646	7.818	19.647	0.749	0.0972429376915	.	.	1.659e-05	0	8.673e-05	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs776429569	1.916e-05	1.984e-05	2.178e-05	1.65e-05	0.0001	1.328e-05	1.144e-05	7.997e-05	6.236e-05	0	2.237e-05	0	0	0	0	1.349e-05	0	0.0001	2.632e-05	2.627e-05	1.286e-05	4.043e-05	0.0002	8.15e-06	5.15e-06	4.88e-06	1.83e-06	2.417e-05	0	0	0	0.0002	0	0	2.941e-05	0	0	0.019	0.50132	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.57	0.93460	H	-0.79	0.73739	T	-4.38	0.77143	D	0.81	0.81162	0.634	0.92341	D	0.715	0.90210	D	10	0.9655412	0.96030	D	0.097243	0.76739	D	0.749	0.91371	0.923	0.98673	0.877379728821	0.87618	0.6675988601219017	0.66697	0.658221441278	0.58738	0.732056736946	0.71807	T	0.57063	0.85777	D	0.0524778	0.58660	T	0.0742728	0.75195	D	0.887014865875244	0.53748	D	0.979822	0.93110	D	0.53006166	0.68834	0.43106875	0.66736	0.53006166	0.68835	0.43106875	0.66736	-8.635	0.65988	D	.	.	0.812	0.81422	P	.;.;.	.;.;.	4.961046	0.82032	27.7	0.99894225535719594	0.96742	0.94291	0.60700	D	ALL	0.922794	0.89829	D	1.02737079262625	0.96526	14.80305	0.954062523085229	0.97525	16.27756	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.62	5.62	0.85714	7.905000	0.86479	6.013000	0.52675	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.647	0.95779	878	0.29785	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1394.98	34	chr2	224886119	.	C	T	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=1034;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=-4.200e-02;SOR=0.648	GT:AD:DP:GQ:PL	0/1:73,57:130:99:1409,0,1769	20	0	1	0
chr2	227290795	227290795	G	C	exonic	COL4A3	.	nonsynonymous SNV	COL4A3:NM_000091:exon37:c.G3119C:p.R1040T,	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.007	B	0.007	B	0.143	N	0.914	N	0.93	L	-3.35	D	-0.452	T	0.569	D	0.297	0.621	7.342	2.8	0.431	-0.019	4.516	0.220	0.0626756258039	.	0.000199681	8.368e-06	0	8.714e-05	0	0	0	0	0	1.29e-05	2	154602	rs187864249	5.474e-06	5.472e-06	4.085e-06	6.877e-06	0.0001	2.36e-06	1.7e-06	4.358e-05	2.767e-05	0	0.0001	0	0	0	0	1.799e-06	1.657e-05	0	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.613	0.05567	T	0.43	0.13713	T	0.007	0.14184	B	0.007	0.12992	B	0.142887	0.18229	N	0.554792	0.913764	0.27449	N	-0.09	0.04745	N	-3.35	0.94022	D	-0.91	0.24460	N	0.261	0.29544	-0.4516	0.70348	T	0.569	0.84399	D	10	0.062354624	0.07959	T	0.062676	0.68726	D	0.220	0.51569	.	.	0.737894262927	0.73554	0.2737578506257544	0.27288	0.278499169253	0.30333	0.290980368853	0.09064	T	0.391941	0.75174	T	-0.103614	0.35826	T	-0.210764	0.53623	T	0.0512844324111938	0.05724	T	0.653935	0.28269	T	0.1401483	0.32346	0.061159924	0.11765	0.1401483	0.32346	0.061159924	0.11765	-3.479	0.16139	T	0.12110335199337476	0.11458	0.090	0.48978	B	.;.	.;.	1.794073	0.22807	15.77	0.73085365237829358	0.10201	0.55893	0.29979	D	AEFDI	0.135999	0.25651	N	-0.433467824330809	0.24303	1.311349	-0.276661272130024	0.28868	1.612967	0.00169053823228202	0.08780	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	2.8	0.31881	-0.237000	0.09007	3.299000	0.37367	0.676000	0.76740	0.016000	0.19238	1.000000	0.68203	0.995000	0.73285	0.0786:0.2873:0.4859:0.1482	4.516	0.11342	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1690.98	34	chr2	227290795	.	G	C	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.359e+00;DP=852;ExcessHet=0.0000;FS=2.260;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=0.675;SOR=0.520	GT:AD:DP:GQ:PL	0/1:60,70:130:99:1705,0,1502	20	0	1	0
chr2	227340380	227340380	-	ACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG	exonic	MFF	.	frameshift insertion	MFF:NM_001277066:exon4:c.440_441insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.Y148Pfs*28	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	0.0001	0.0001	0.0003	9.022e-05	8.504e-05	0.0002	0.0002	0.0003	0.0001	0.0005	0	0.0001	0.0002	7.315e-05	0.0001	0.0003	3.292e-05	0.0010	3.865e-05	2.692e-05	7.268e-05	1.263e-05	7.99e-06	1.927e-05	1.034e-05	7.268e-05	0	6.539e-05	0	0	9.423e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	58.28	36	chr2	227340380	.	T	TACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG	58.28	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.35;DP=885;ExcessHet=0.0000;FS=1.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.98;MQRankSum=-6.102e+00;QD=1.14;ReadPosRankSum=2.14;SOR=0.446	GT:AD:DP:GQ:PL	0/1:46,5:51:69:69,0,1913	20	0	1	0
chr2	230046653	230046653	G	A	exonic	SLC16A14	.	nonsynonymous SNV	SLC16A14:NM_152527:exon4:c.C473T:p.A158V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.764	P	0.445	B	0.000	D	1.000	D	1.82	L	-1.57	D	0.121	D	0.539	D	0.716	3.791	19.25	4.94	2.557	5.272	18.358	0.634	0.0751462307587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.875e-07	1.368e-06	1.369e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.111	0.37173	T	0.234	0.43716	B	0.152	0.45921	B	0.000269	0.46590	D	0.094162	0.99996	0.52935	D	2.595	0.75868	M	-1.57	0.81900	D	-3.36	0.66549	D	0.777	0.77413	0.121	0.84556	D	0.539	0.82999	D	10	0.73142123	0.74324	D	0.075146	0.72216	D	0.634	0.85975	0.745	0.87654	0.713815690768	0.71130	0.6616692867895871	0.66103	1.16483280756	0.79586	0.729648530483	0.71455	T	0.495862	0.81840	T	0.192465	0.73190	D	0.0386856	0.72841	D	0.986987113952637	0.77573	D	0.908309	0.67561	D	0.42611185	0.62496	0.3059564	0.56621	0.42611185	0.62497	0.3059564	0.56620	-8.464	0.64191	D	.	.	0.766	0.75731	P	.;.;.	.;.;.	4.482429	0.69953	25.4	0.99906889127012632	0.97726	0.97110	0.72748	D	AEFDBI	0.582800	0.58227	D	0.350791161655516	0.58781	4.052594	0.432512986036819	0.63602	4.597223	0.960434248405783	0.28488	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.94	4.94	0.64645	4.073000	0.57290	11.340000	0.92555	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	18.358	0.90305	952	0.10565	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1248.98	35	chr2	230046653	.	G	A	1248.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.430e-01;DP=794;ExcessHet=0.0000;FS=2.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.386;SOR=1.044	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1263,0,1340	20	0	1	0
chr2	232549510	232549510	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G373A:p.A125T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.899	P	0.787	P	.	.	0.996	N	1.355	L	1.56	T	-1.018	T	0.087	T	0.19	1.551	11.14	0.556	0.550	0.441	.	0.055	0.00221796310826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287251917	0	1.575e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	0.04561	T	0.483	0.11795	T	0.899	0.49514	P	0.787	0.57594	P	.	.	.	.	0.995699	0.23225	N	0.76	0.19266	N	1.56	0.29602	T	-0.16	0.09460	N	0.18	0.19459	-1.0180	0.24366	T	0.087	0.33746	T	8	0.13647899	0.25966	T	0.002218	0.04206	T	0.055	0.15663	0.354	0.35408	0.301789629655	0.29801	0.03610414074900602	0.03557	.	.	0.356378555298	0.18858	T	0.132155	0.46208	T	-0.262038	0.12662	T	-0.614176	0.11647	T	0.215131044387817	0.21218	T	0.524548	0.17205	T	0.055484157	0.10788	0.12149436	0.29314	0.055484157	0.10787	0.12149436	0.29313	-3.001	0.10191	T	.	.	0.075	0.05360	B	.	.	1.128217	0.15144	11.62	0.92923730072353838	0.22486	0.00797	0.03252	N	AEFGBI	0.037701	0.05224	N	-0.367876417896291	0.26620	1.454231	-0.55746153257013	0.20608	1.111072	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.442000	0.21343	-0.903000	0.06984	-0.178000	0.10482	0.117000	0.23121	0.011000	0.20116	0.123000	0.19290	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type 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	1	0	0	0	0.09375	109.63	12	chr2	232549510	.	C	T	109.63	.	AC=3;AF=0.094;AN=32;BaseQRankSum=0.00;DP=241;ExcessHet=0.3300;FS=11.274;InbreedingCoeff=-0.1807;MLEAC=4;MLEAF=0.125;MQ=57.39;MQRankSum=-2.200e+00;QD=4.77;ReadPosRankSum=0.282;SOR=3.258	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,2:14:48:0|1:232549510_C_T:48,0,481:232549510	13	0	3	5
chr2	232549513	232549513	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G370A:p.A124T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.899	P	0.787	P	.	.	1.000	N	2.075	M	1.49	T	-0.995	T	0.105	T	0.23	1.050	9.288	0.556	0.550	0.441	.	0.082	0.00219902448544	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1350330081	0	6.293e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713	0.04008	T	0.506	0.10967	T	0.899	0.49514	P	0.787	0.57594	P	.	.	.	.	0.999546	0.21009	N	2.005	0.54552	M	1.49	0.31470	T	-0.79	0.21860	N	0.165	0.17416	-0.9947	0.31379	T	0.105	0.38538	T	8	0.19243413	0.34971	T	0.002199	0.04151	T	0.082	0.23913	0.398	0.42590	0.313518423057	0.30959	0.02492182665721386	0.02443	.	.	0.374947816133	0.21538	T	0.167545	0.51421	T	-0.225216	0.17286	T	-0.561284	0.16256	T	0.35017939762971	0.27026	T	0.530047	0.17581	T	0.09814924	0.23147	0.13288471	0.31878	0.09814924	0.23147	0.13288471	0.31877	-3.021	0.10409	T	.	.	0.099	0.16886	B	.	.	1.250184	0.16471	12.56	0.86624251774057004	0.16661	0.00561	0.02556	N	AEFGBI	0.038874	0.05567	N	-0.395008947537162	0.25645	1.393746	-0.627644686179088	0.18784	1.004976	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.442000	0.21343	0.859000	0.22211	0.596000	0.33519	0.037000	0.20830	0.014000	0.20376	0.041000	0.14368	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type 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	1	0	0	0	0.09375	115.68	12	chr2	232549513	.	C	T	115.68	.	AC=3;AF=0.094;AN=32;BaseQRankSum=1.18;DP=234;ExcessHet=0.3300;FS=11.504;InbreedingCoeff=-0.1832;MLEAC=4;MLEAF=0.125;MQ=57.23;MQRankSum=-2.200e+00;QD=5.51;ReadPosRankSum=0.00;SOR=3.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,2:12:54:0|1:232549510_C_T:54,0,413:232549510	13	0	3	5
chr2	232549518	232549518	A	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.T365A:p.V122E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-2.32	N	1.53	T	-0.973	T	0.011	T	0.137	-1.921	0.008	-1.11	-0.426	-0.489	.	0.018	0.00134953199851	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270623677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999798	0.20333	N	-2.72	0.00030	N	1.53	0.30401	T	1.57	0.00677	N	0.126	0.11912	-0.9733	0.36496	T	0.011	0.04227	T	8	0.028942138	0.01023	T	0.00135	0.01936	T	0.018	0.03083	0.431	0.48007	0.0716867268079	0.06686	0.03137575966878789	0.03086	.	.	0.426254749298	0.28696	T	0.121027	0.44369	T	-0.317638	0.07093	T	-0.694041	0.06158	T	0.043319108104939	0.04297	T	0.0547945	0.00394	T	0.18671499	0.40092	0.18082406	0.40906	0.18671499	0.40092	0.18082406	0.40905	0.811	0.00158	T	.	.	0.048	0.00090	B	.	.	-0.225105	0.02965	0.440	0.88682828380446543	0.18171	0.00124	0.00775	N	AEFGBI	0.022880	0.01201	N	-1.76933389965436	0.00624	0.02692902	-1.70214441879084	0.01128	0.05070815	0.999884870920577	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	-1.11	0.09336	-0.495000	0.06524	0.069000	0.14235	-0.112000	0.15009	0.117000	0.23121	0.164000	0.23286	0.071000	0.16709	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type 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	1	0	0	0	0.09375	111.69	12	chr2	232549518	.	A	T	111.69	.	AC=3;AF=0.094;AN=32;BaseQRankSum=2.10;DP=244;ExcessHet=0.3300;FS=11.560;InbreedingCoeff=-0.1666;MLEAC=3;MLEAF=0.094;MQ=57.34;MQRankSum=-2.362e+00;QD=5.88;ReadPosRankSum=-3.850e-01;SOR=3.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:232549510_C_T:57,0,372:232549510	13	0	3	5
chr2	232549519	232549519	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G364A:p.V122M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.144	B	0.066	B	.	.	1.000	N	0	N	1.48	T	-1.020	T	0.033	T	0.116	0.461	6.504	-0.456	-0.266	0.441	.	0.016	0.00134745809998	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330384880	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.009	0.66756	D	0.144	0.27697	B	0.066	0.27432	B	.	.	.	.	0.999933	0.19363	N	0	0.06538	N	1.48	0.31731	T	0.33	0.03889	N	0.091	0.06990	-1.0195	0.23877	T	0.033	0.14377	T	8	0.05338645	0.05521	T	0.001347	0.01936	T	0.016	0.02506	0.378	0.39319	0.0986583533028	0.09354	0.051309855353736146	0.05072	.	.	0.436837911606	0.30145	T	0.137141	0.46992	T	-0.292978	0.09339	T	-0.658619	0.08360	T	0.0629878365535122	0.07631	T	0.339666	0.07323	T	0.07835389	0.17837	0.12504655	0.30133	0.07835389	0.17837	0.12504655	0.30132	-5.584	0.42646	T	.	.	0.099	0.16800	B	.	.	1.745162	0.22204	15.52	0.85008926846249744	0.15630	0.00734	0.03074	N	AEFGBI	0.037686	0.05218	N	-1.11779158903546	0.06326	0.2909238	-1.16808452328762	0.06449	0.3104785	0.999862968112135	0.44398	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	-0.456	0.11581	0.442000	0.21343	0.027000	0.13676	-0.180000	0.10397	0.322000	0.25520	0.347000	0.24452	0.171000	0.21011	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type 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	1	0	0	0	0.09375	111.62	12	chr2	232549519	.	C	T	111.62	.	AC=3;AF=0.094;AN=32;BaseQRankSum=0.447;DP=244;ExcessHet=0.3300;FS=11.560;InbreedingCoeff=-0.1654;MLEAC=3;MLEAF=0.094;MQ=57.34;MQRankSum=-2.362e+00;QD=5.87;ReadPosRankSum=0.00;SOR=3.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:232549510_C_T:57,0,372:232549510	13	0	3	5
chr2	232549525	232549525	T	C	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.A358G:p.R120G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.65	P	0.415	B	.	.	0.983	N	1.8	L	1.37	T	-1.026	T	0.090	T	0.308	1.026	9.190	0.556	0.465	0.449	.	0.049	0.00253191833817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs988700174	7.622e-06	1.567e-05	8.24e-06	7.09e-06	1.293e-05	1.78e-06	1.2e-06	4.02e-06	2.04e-06	0	0	0	0	0	0	1.293e-05	0	0	6.582e-06	6.57e-06	1.286e-05	0	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	0.317	0.13699	T	0.148	0.32675	T	0.65	0.40644	P	0.415	0.44933	B	.	.	.	.	0.98261	0.24951	N	2.05	0.56469	M	1.37	0.34253	T	-0.55	0.16799	N	0.174	0.18649	-1.0255	0.21919	T	0.090	0.34546	T	8	0.18827486	0.34375	T	0.002532	0.05065	T	0.049	0.13647	0.481	0.56142	0.744681466868	0.74238	0.11256495900239101	0.11184	.	.	0.36315536499	0.19845	T	0.240422	0.60874	T	-0.173133	0.24763	T	-0.48647	0.23762	T	0.338491348514844	0.26564	T	0.59884	0.22311	T	0.12546013	0.29411	0.20061272	0.44001	0.12546013	0.29411	0.20061272	0.44000	-7.723	0.59167	D	.	.	0.120	0.24901	B	.	.	2.182338	0.27816	17.59	0.90259914200950342	0.19530	0.05198	0.11021	N	AEFGBI	0.101547	0.20393	N	-0.316897915568869	0.28507	1.572883	-0.431873427428098	0.24067	1.315899	0.999875630302105	0.44625	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.446000	0.21410	0.877000	0.22363	0.661000	0.55757	0.836000	0.30223	0.845000	0.27336	0.794000	0.37478	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	108.43	12	chr2	232549525	.	T	C	108.43	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.400e-01;DP=248;ExcessHet=0.1072;FS=15.483;InbreedingCoeff=-0.1313;MLEAC=2;MLEAF=0.059;MQ=54.63;MQRankSum=-2.100e+00;QD=6.02;ReadPosRankSum=-2.820e-01;SOR=3.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:232549510_C_T:60,0,330:232549510	15	0	2	4
chr2	232549530	232549530	G	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.C353A:p.A118D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.956	P	0.887	P	.	.	0.923	N	1.935	M	1.29	T	-0.952	T	0.139	T	0.277	1.036	9.231	0.556	0.550	0.529	.	0.081	0.00215114005637	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484242912	0	4.69e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	0.07994	T	0.592	0.08161	T	0.956	0.54666	P	0.887	0.62952	P	.	.	.	.	0.92348	0.27237	N	1.82	0.47800	L	1.29	0.35775	T	-0.09	0.08340	N	0.182	0.19728	-0.9515	0.40712	T	0.139	0.45640	T	8	0.22539988	0.39368	T	0.002151	0.04016	T	0.081	0.23632	0.393	0.41770	0.730657502441	0.72826	0.08914081496926869	0.08847	.	.	0.392814904451	0.24066	T	0.192982	0.54830	T	-0.181875	0.23458	T	-0.499028	0.22448	T	0.284047822348565	0.24341	T	0.464953	0.13579	T	0.42828092	0.62639	0.34581423	0.60259	0.42828092	0.62639	0.34581423	0.60258	-5.1	0.37908	T	.	.	0.115	0.23113	B	.	.	2.606083	0.33840	19.46	0.89761259335368337	0.19078	0.14941	0.18664	N	AEFGBCI	0.071620	0.14265	N	-0.0341153908112047	0.40315	2.392057	-0.20293493821147	0.31431	1.778708	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.531000	0.22759	1.215000	0.24935	0.672000	0.70159	0.916000	0.31843	0.908000	0.28083	0.871000	0.41478	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type 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	1	0	0	0	0.06667	115.67	11	chr2	232549530	.	G	T	115.67	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-1.242e+00;DP=243;ExcessHet=0.1072;FS=12.481;InbreedingCoeff=-0.1497;MLEAC=3;MLEAF=0.100;MQ=56.99;MQRankSum=-2.100e+00;QD=7.23;ReadPosRankSum=-1.026e+00;SOR=3.611	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:232549510_C_T:66,0,246:232549510	13	0	2	6
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	43047.11	33	chr2	232847516	.	CACA	C,*	43047.11	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.081e+00;DP=2385;ExcessHet=2.1081;FS=4.230;InbreedingCoeff=-0.0572;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=0.139;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,46,0:112:99:.:.:1567,0,2526,1766,2663,4429	6	3	10	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	2757.23	33	chr2	232847517	.	A	*,AG	2757.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-8.110e-01;DP=2381;ExcessHet=1.0911;FS=4.374;InbreedingCoeff=0.0455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=-1.791e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,46,0:112:99:.:.:1567,0,2526,1766,2663,4429	6	4	10	0
chr2	233335071	233335071	G	A	exonic	SAG	.	nonsynonymous SNV	SAG:NM_000541:exon11:c.G916A:p.E306K,	Oguchi disease-1, Autosomal recessive;Retinitis pigmentosa 47	YES	0	1521	1	0	0	1	0.000328623	.	.	2749233	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.994	D	0.000	D	1.000	D	2.84	M	3.11	T	-1.022	T	0.088	T	0.672	4.828	27.4	4.57	2.542	9.192	16.687	0.275	0.0321503963129	.	.	.	.	.	.	.	.	.	.	.	.	.	rs397514682	1.232e-05	1.231e-05	5.446e-06	1.926e-05	0.0002	7.7e-06	6.35e-06	6.246e-05	4.757e-05	0	0	0	5.038e-05	0	0.0002	2.698e-06	3.313e-05	0.0001	1.313e-05	1.312e-05	0	2.684e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.053	0.38863	T	0.005	0.72224	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.655	0.77738	M	3.11	0.08194	T	-3.37	0.66665	D	0.907	0.90818	-1.0220	0.23063	T	0.088	0.34133	T	10	0.7971338	0.79171	D	0.03215	0.54051	D	0.275	0.59130	0.539	0.65018	0.703980281492	0.70141	0.7037248417315666	0.70313	0.587072184464	0.54300	0.818653285503	0.84822	D	0.382201	0.74434	T	-0.124582	0.32377	T	-0.235202	0.51265	T	0.973209202289581	0.70002	D	.	.	.	0.5053662	0.67409	0.42527598	0.66341	0.5053662	0.67410	0.42527598	0.66341	-11.78	0.83762	D	.	.	0.309	0.53671	B	.	.	5.541562	0.91968	32	0.99925017486802559	0.99042	0.96012	0.67135	D	AEFBCI	0.915787	0.88107	D	0.85607533802623	0.89452	9.977384	0.771396448962076	0.87744	9.329313	0.999999999992292	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.57	4.57	0.55860	10.003000	0.99689	11.814000	0.97026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:1.0:0.0	16.687	0.85170	878	0.29785	Arrestin C-terminal-like domain|Arrestin C-terminal-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	860.98	34	chr2	233335071	.	G	A	860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.160e-01;DP=782;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=-2.550e-01;SOR=0.902	GT:AD:DP:GQ:PL	0/1:37,39:76:99:875,0,845	20	0	1	0
chr2	238130392	238130392	G	A	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_001308370:exon4:c.G574A:p.G192R	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.016	B	0.016	B	0.820	N	1.000	N	1.7	L	1.04	T	-0.994	T	0.097	T	0.472	-0.678	1.044	2.05	0.158	0.582	5.106	0.131	0.0693573402986	0.0007	0.00159744	0.0007	0.0038	0.0001	0.0029	0	0.0002	0	0.0010	0.0005627	87	154602	rs145074139	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0023	0.0021	0.0028	0.0002	0	0.0008	0	0	4.68e-05	0.0005	0.0006	0.0008	0.0008	0.0008	0.0008	0.0025	0.0007	0.0006	0.0018	0.0017	0.0022	0	0.0003	0	0.0025	0	0	2.941e-05	0.0014	0.0006	0.196	0.20683	T	0.395	0.18617	T	0.009	0.17332	B	0.007	0.17743	B	0.819610	0.09188	N	0.878539	1	0.08975	N	1.335	0.33326	L	-0.05	0.63403	T	-2.3	0.51157	N	0.058	0.15888	-0.9937	0.31643	T	0.097	0.36341	T	10	0.0038446784	0.00073	T	0.069357	0.70706	D	0.131	0.35738	0.226	0.15109	0.149567049428	0.14543	0.08051695251524227	0.07986	0.153672317114	0.17337	0.531638860703	0.43265	T	0.003771	0.03181	T	-0.417466	0.01776	T	-0.371622	0.36700	T	0.00308815792051086	0.00032	T	0.635136	0.24942	T	0.044621535	0.07163	0.09384508	0.22185	0.044621535	0.07162	0.09384508	0.22185	-4.823	0.34858	T	.	.	0.131	0.29311	B	.;.;.	.;.;.	0.511841	0.08805	5.585	0.78534550850602469	0.12342	0.09500	0.15242	N	AEFBI	0.114676	0.22577	N	-1.09530028795792	0.06729	0.3106143	-1.14816182804525	0.06801	0.3286075	0.368077773525818	0.19843	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.9	2.05	0.25860	0.488000	0.22080	-0.080000	0.12189	-0.949000	0.02041	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1961:0.1722:0.6316:0.0	5.106	0.14117	969	0.06854	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	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	1187.98	40	chr2	238130392	.	G	A	1187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.75;DP=929;ExcessHet=0.0000;FS=12.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.48;ReadPosRankSum=-1.232e+00;SOR=2.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,31:58:99:0|1:238130392_G_A:1202,0,1010:238130392	20	0	1	0
chr2	238164320	238164320	C	T	exonic	ERFE	.	nonsynonymous SNV	ERFE:NM_001291832:exon6:c.C847T:p.R283C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.036	N	1.000	D	1.755	L	0.93	T	-0.874	T	0.158	T	0.623	2.472	14.22	3.52	0.832	5.706	11.364	0.301	0.308395710082	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1242808103	6.514e-06	1.094e-05	7.145e-06	5.866e-06	7.44e-06	3.07e-06	2.22e-06	3.2e-06	2.31e-06	0	0	0	0	0	0	7.44e-06	1.741e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.823e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	1.47e-05	0	0	0.043	0.41364	D	0.011	0.64786	D	.	.	.	.	.	.	0.035946	0.24582	N	0.353536	0.999841	0.49770	D	.	.	.	0.93	0.44065	T	-6.51	0.91653	D	0.619	0.63459	-0.8736	0.50257	T	0.158	0.49178	T	8	0.73059887	0.74271	D	0.308396	0.91107	D	0.301	0.62179	0.561	0.68093	0.623049244626	0.61998	0.45652942995381224	0.45570	.	.	.	.	.	0.383283	0.74517	T	-0.030352	0.47366	T	-0.281375	0.46664	T	0.904633343219757	0.55815	D	0.756924	0.38041	T	0.32840264	0.55340	0.2911088	0.55135	0.32840264	0.55340	0.2911088	0.55134	-11.485	0.82251	D	.	.	0.495	0.64352	A	.	.	5.307898	0.89104	29.9	0.9949370148317831	0.67630	0.93164	0.57492	D	AEFDBCI	0.753966	0.69399	D	-0.190312755762293	0.33537	1.903772	-0.259910885317387	0.29431	1.648838	0.9999979966686	0.74766	0.676563	0.55306	0	0.59043	0.45803	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	4.4	3.52	0.39415	3.619000	0.53937	5.490000	0.48745	-0.221000	0.07976	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.9085:0.0:0.0915	11.364	0.48898	969	0.06854	C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	533.98	33	chr2	238164320	.	C	T	533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=793;ExcessHet=0.0000;FS=1.236;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.155;SOR=0.818	GT:AD:DP:GQ:PL	0/1:19,20:39:99:548,0,427	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	1/1:0,112,0:112:99:.:.:4801,338,0,4801,338,4801	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	0/2:18,12,28:65:99:604,328,1016,0,247,335	0	0	1	0
chr2	241678520	241678520	C	T	exonic	DTYMK	.	nonsynonymous SNV	DTYMK:NM_001320902:exon3:c.G331A:p.G111R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.006	B	0.007	B	0.207	N	1.000	N	0.035	N	1.0	T	-1.057	T	0.030	T	0.337	-0.841	0.570	-10.1	-3.376	-0.120	6.262	0.029	0.00140212359867	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs770798383	9.577e-06	1.026e-05	9.529e-06	9.626e-06	1.159e-05	5.56e-06	4.35e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.656e-05	1.159e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.525	0.07140	T	0.521	0.10429	T	0.004	0.12183	B	0.003	0.08700	B	0.207286	0.16451	N	0.658943	1	0.08975	N	0.375	0.12094	N	1.0	0.41392	T	-0.83	0.22727	N	0.122	0.11340	-1.0570	0.12517	T	0.030	0.12892	T	10	0.056549966	0.06356	T	0.001402	0.02062	T	0.045	0.12272	0.429	0.47680	0.274431252636	0.27063	0.30412683750699876	0.30325	0.324506436646	0.34611	0.322048723698	0.13732	T	0.117323	0.43732	T	-0.288385	0.09799	T	-0.544364	0.17869	T	0.0202120886029221	0.00721	T	0.738226	0.35599	T	0.0966057	0.22757	0.06306565	0.12437	0.0966057	0.22756	0.06306565	0.12437	-3.725	0.19688	T	.	.	0.125	0.26419	B	.	.	-1.374652	0.00379	0.007	0.69556503133308745	0.09010	0.03794	0.09121	N	AEFBCI	0.062113	0.11920	N	-1.84483279675278	0.00444	0.01911525	-2.02771482007791	0.00267	0.01179967	0.999827516793063	0.43622	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	-10.1	0.00330	-0.129000	0.10493	-4.775000	0.01992	-2.739000	0.00200	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0819:0.4526:0.1799:0.2856	6.262	0.20114	970	0.06235	Thymidylate kinase-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1319.98	37	chr2	241678520	.	C	T	1319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.55;DP=977;ExcessHet=0.0000;FS=4.512;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.350;SOR=0.559	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1334,0,1422	20	0	1	0
chr3	9725976	9725976	C	T	exonic	CPNE9	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.984	T	0.165	T	.	1.258	10.10	-0.085	-0.358	-1.293	5.595	0.050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1423.98	33	chr3	9725976	.	C	T	1423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.84;DP=770;ExcessHet=0.0000;FS=7.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.16;ReadPosRankSum=-5.820e-01;SOR=0.885	GT:AD:DP:GQ:PL	0/1:33,50:83:99:1438,0,738	20	0	1	0
chr3	9867240	9867241	CC	-	exonic	CIDEC	.	frameshift deletion	CIDEC:NM_001321144:exon5:c.388_389del:p.G130Hfs*46	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0003	0.0002	6.008e-05	0	0.0004	9.7e-05	15	154602	rs777480698	9.44e-05	9.645e-05	8.712e-05	0.0001	0.0004	8.135e-05	7.651e-05	0.0003	0.0002	2.987e-05	0	0	7.557e-05	3.747e-05	0	8.633e-05	8.279e-05	0.0004	5.25e-05	5.249e-05	5.138e-05	5.367e-05	7.349e-05	2.554e-05	1.828e-05	2.846e-05	1.858e-05	0	0	6.536e-05	0	0	9.406e-05	0	7.349e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1424.94	52	chr3	9867239	.	GCC	G	1424.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.450e-01;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.83;ReadPosRankSum=-2.740e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:52,38:90:99:1439,0,2069	20	0	1	0
chr3	9893079	9893079	C	G	exonic	JAGN1	.	nonsynonymous SNV	JAGN1:NM_001363890:exon2:c.C92G:p.S31C	Neutropenia, severe congenital, 6, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.975	D	0.815	P	0.001	D	1.000	D	2.535	M	.	.	-0.164	T	0.425	T	0.432	4.204	21.8	5.73	2.709	3.977	19.488	0.231	0.0222805343604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.112	0.37037	T	0.975	0.58077	D	0.815	0.58847	P	0.000567	0.43250	D	0.239229	0.999811	0.49394	D	1.85	0.49092	L	.	.	.	-2.63	0.56466	D	0.312	0.35194	-0.1637	0.78580	T	0.425	0.76883	T	9	0.7841961	0.78107	D	0.022281	0.45152	T	0.231	0.53208	0.628	0.76366	0.683740502345	0.68104	0.6627413893646246	0.66211	0.212106756448	0.23704	0.526173651218	0.42496	T	0.678045	0.90516	D	-8.60054e-05	0.51642	T	-0.2379	0.51002	T	0.779613614082336	0.45026	D	0.80002	0.44558	T	0.2279283	0.45502	0.17835206	0.40498	0.2279283	0.45503	0.17835206	0.40498	-4.712	0.33549	T	0.4634591731430876	0.54522	0.089	0.12037	B	.;.	.;.	3.806161	0.54877	23.5	0.98816351311557915	0.46704	0.94644	0.61841	D	AEFDBHCI	0.796274	0.72345	D	0.675974272007514	0.78056	6.795716	0.657737313030869	0.79189	7.029903	0.99999999998018	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.73	5.73	0.89730	4.046000	0.57088	7.664000	0.64404	0.544000	0.25403	0.976000	0.34826	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	19.488	0.95031	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	320.11	36	chr3	9893079	.	C	G	320.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.141e+00;DP=1133;ExcessHet=0.1072;FS=87.192;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.26;ReadPosRankSum=1.78;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,19:151:99:0|1:9893075_C_G:195,0,5297:9893075	19	0	2	0
chr3	36829633	36829633	T	C	exonic	TRANK1	.	nonsynonymous SNV	TRANK1:NM_014831:exon22:c.A8608G:p.I2870V	.	.	437	1001	81	3	0	87	0.0416467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.0	B	0.521	N	1.000	N	0.55	N	2.0	T	-0.996	T	0.035	T	0.039	1.045	9.269	-2.89	-0.425	-0.071	10.658	0.031	.	0.0041	0.0091853	0.0086	0.0012	0.0027	0	0.0002	0.0061	0.0067	0.0353	0.0079883	1235	154602	rs147602680	0.0067	0.0067	0.0057	0.0077	0.0356	0.0066	0.0065	0.0345	0.0341	0.0009	0.0033	0.0053	2.519e-05	0.0004	0.0210	0.0053	0.0063	0.0356	0.0043	0.0043	0.0039	0.0048	0.0332	0.0041	0.0039	0.0290	0.0274	0.0010	0	0.0038	0.0049	0.0002	0.0008	0.0170	0.0052	0.0071	0.0332	0.196	0.20683	T	0.372	0.16376	T	0.0	0.02946	B	0.0	0.01387	B	0.520809	0.05201	N	1.404800	1	0.08975	N	0.69	0.16971	N	2.0	0.21473	T	0.02	0.06739	N	0.057	0.02861	-0.9958	0.31082	T	0.035	0.15074	T	10	0.0029999614	0.00049	T	.	.	.	0.031	0.07369	.	.	0.0986583533028	0.09354	0.07676767821433089	0.07612	0.145140460238	0.16409	0.310466110706	0.11977	T	0.027208	0.19973	T	-0.694287	0.00039	T	-0.744309	0.03712	T	0.00112084309542654	0.00011	T	0.558444	0.19458	T	0.047605358	0.08164	0.053054407	0.08861	0.047605358	0.08164	0.053054407	0.08861	-2.739	0.07636	T	.	.	0.071	0.04599	B	.;.	.;.	0.094974	0.04978	1.540	0.89386594739393521	0.18753	0.01778	0.05572	N	AEFDGBI	0.046980	0.07860	N	-1.01800290355481	0.08230	0.3851583	-1.02789908835854	0.09174	0.4549581	0.82360940086271	0.24567	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.17	-2.89	0.05326	-0.033000	0.12196	-3.041000	0.03115	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.927000	0.46353	0.0:0.4816:0.0:0.5184	10.658	0.44877	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	5318.66	34	chr3	36829633	.	T	C	5318.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.400e-01;DP=931;ExcessHet=0.0000;FS=1.081;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.70;ReadPosRankSum=1.15;SOR=0.811	GT:AD:DP:GQ:PL	0/1:70,72:142:99:1739,0,1710	19	1	1	0
chr3	38007777	38007777	T	C	exonic	PLCD1	.	nonsynonymous SNV	PLCD1:NM_001130964:exon15:c.A2330G:p.D777G	Nail disorder, nonsyndromic congenital, 3, (leukonychia), Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.871	P	0.000	D	1.000	D	2.585	M	1.82	T	-0.843	T	0.146	T	0.651	3.811	19.35	5.01	2.020	4.889	10.033	0.250	0.0669384462643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.011	0.64786	D	0.996	0.68779	D	0.871	0.61869	P	0.000130	0.49741	D	0.203076	0.999939	0.51612	D	2.495	0.72670	M	1.78	0.25678	T	-3.37	0.68764	D	0.352	0.39659	-0.8428	0.52460	T	0.146	0.46967	T	10	0.3048461	0.48006	T	0.066938	0.70022	D	0.250	0.55888	0.431	0.48007	0.627195870872	0.62415	0.49758987617443856	0.49679	0.807291587251	0.66545	0.566183447838	0.48139	T	0.685537	0.90808	D	0.021851	0.54632	T	-0.206389	0.54039	T	0.985782146453857	0.76677	D	0.814719	0.46890	T	0.24314588	0.47250	0.23882036	0.49215	0.24314588	0.47250	0.23882036	0.49214	-6.15	0.47517	T	.	.	0.142	0.34427	B	.;.	.;.	4.152734	0.62308	24.4	0.99745181061800858	0.83852	0.95889	0.66590	D	AEFDBCI	0.506348	0.53711	D	0.601853758696996	0.73291	5.942306	0.561011747386206	0.72167	5.767304	0.99999998650527	0.74766	0.732398	0.92422	0	0.694456	0.67091	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.01	5.01	0.66477	5.284000	0.65431	4.231000	0.42652	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.764000	0.36293	0.0:0.0811:0.0:0.9189	10.033	0.41282	580	0.69689	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1118.98	34	chr3	38007777	.	T	C	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-2.073e+00;SOR=0.776	GT:AD:DP:GQ:PL	0/1:53,44:97:99:1133,0,1202	20	0	1	0
chr3	40462038	40462038	-	CTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTG:p.A159_K160insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/2:0,37,22,0,0,0,0:59:99:2553,920,802,1558,0,1489,2518,922,1560,2513,2518,922,1560,2513,2513,2518,922,1560,2513,2513,2513,2518,922,1560,2513,2513,2513,2513	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTG:p.A159_K160insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/2:0,37,22,0,0,0,0:59:99:2553,920,802,1558,0,1489,2518,922,1560,2513,2518,922,1560,2513,2513,2518,922,1560,2513,2513,2513,2518,922,1560,2513,2513,2513,2513	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTG:p.A159_K160insAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/2:0,37,22,0,0,0,0:59:99:2553,920,802,1558,0,1489,2518,922,1560,2513,2518,922,1560,2513,2513,2518,922,1560,2513,2513,2513,2518,922,1560,2513,2513,2513,2513	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTG:p.A159_K160insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/2:0,37,22,0,0,0,0:59:99:2553,920,802,1558,0,1489,2518,922,1560,2513,2518,922,1560,2513,2513,2518,922,1560,2513,2513,2513,2518,922,1560,2513,2513,2513,2513	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTGCTG:p.A159_K160insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/2:0,37,22,0,0,0,0:59:99:2553,920,802,1558,0,1489,2518,922,1560,2513,2518,922,1560,2513,2513,2518,922,1560,2513,2513,2513,2518,922,1560,2513,2513,2513,2513	1	2	2	0
chr3	42210088	42210088	-	GGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGA:p.E624_G625insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	2/4:0,0,67,0,12:79:99:3372,3291,3244,494,495,287,3291,3244,495,3244,2704,2673,0,2673,2588	1	3	1	0
chr3	42210088	42210088	-	GGAGGAGGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGAGGAGGA:p.E624_G625insEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	2/4:0,0,67,0,12:79:99:3372,3291,3244,494,495,287,3291,3244,495,3244,2704,2673,0,2673,2588	1	3	1	0
chr3	42210088	42210088	-	GGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGA:p.E624_G625insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	2/4:0,0,67,0,12:79:99:3372,3291,3244,494,495,287,3291,3244,495,3244,2704,2673,0,2673,2588	1	3	1	0
chr3	45967860	45967860	G	A	exonic	FYCO1	.	nonsynonymous SNV	FYCO1:NM_024513:exon8:c.C1474T:p.R492W,	Cataract 18, autosomal recessive, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	291589	FYCO1-related_disorder|not_provided|Cataract_18	.|MedGen:C3661900|MONDO:MONDO:0012395,MedGen:C1864908,OMIM:610019,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.989	D	0.431	B	0.334	N	1.000	N	1.1	L	2.02	T	-1.036	T	0.047	T	0.267	0.915	8.723	3.58	1.350	1.863	3.103	0.073	0.0186888804903	0.0026	0.00179712	0.0027	0.0002	0.0026	0.0001	0.0021	0.0039	0.0055	0.0007	0.0006274	97	154602	rs143704916	0.0025	0.0025	0.0026	0.0024	0.0029	0.0025	0.0024	0.0029	0.0028	0.0004	0.0029	0.0004	7.557e-05	0.0014	0.0016	0.0029	0.0026	0.0005	0.0026	0.0026	0.0027	0.0025	0.0077	0.0024	0.0023	0.0066	0.0062	0.0004	0	0.0077	0	0.0002	0.0008	0	0.0035	0.0028	0.0004	0.01	0.56456	D	0.011	0.64786	D	0.989	0.62824	D	0.431	0.45421	B	0.334439	0.04150	N	1.435910	1	0.08975	N	1.5	0.37844	L	2.02	0.21666	T	-2.58	0.55662	D	0.265	0.30004	-1.0365	0.18388	T	0.047	0.19998	T	10	0.004735142	0.00100	T	0.018689	0.40835	T	0.073	0.21317	.	.	0.29527378943	0.29149	0.18505202132207824	0.18423	0.383985489066	0.39712	0.178364992142	0.00080	T	0.041947	0.26023	T	-0.503996	0.00543	T	-0.496739	0.22686	T	0.0212506916887722	0.00827	T	0.787921	0.42712	T	0.0805889	0.18473	0.061113063	0.11748	0.06520861	0.13914	0.082107544	0.18712	-6.423	0.49688	T	0.3452860605667937	0.44281	0.090	0.12560	B	.;.	.;.	2.326607	0.29799	18.24	0.99770301325805177	0.85834	0.39927	0.26322	N	AEFDBCI	0.393957	0.47141	N	-0.24171235665711	0.31436	1.762635	-0.3576786001593	0.26272	1.450072	0.999989741928877	0.51787	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.55	3.58	0.40133	2.064000	0.41059	0.645000	0.20357	0.676000	0.76740	0.012000	0.18695	0.000000	0.08366	0.001000	0.02609	0.0943:0.1264:0.5164:0.2629	3.103	0.05950	390	0.83257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1057.98	36	chr3	45967860	.	G	A	1057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=1135;ExcessHet=0.0000;FS=5.934;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=-7.520e-01;SOR=0.683	GT:AD:DP:GQ:PL	0/1:75,44:119:99:1072,0,1796	20	0	1	0
chr3	46409095	46409095	A	G	exonic	CCRL2	.	nonsynonymous SNV	CCRL2:NM_001130910:exon2:c.A1052G:p.D351G	.	.	.	.	.	.	.	.	.	.	.	2398936	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.002	B	0.002	B	0.140	N	1.000	N	0.805	L	0.23	T	-1.051	T	0.114	T	0.061	1.625	11.39	-0.272	-0.197	-0.078	0.931	0.082	0.0101614318922	.	0.000399361	0.0002	0	8.649e-05	0.0016	0	6.036e-05	0.0011	0	0.0001294	20	154602	rs184378837	5.552e-05	5.541e-05	5.997e-05	5.102e-05	0.0011	4.552e-05	4.164e-05	0.0008	0.0007	0	2.246e-05	0	0.0011	0	0.0002	2.973e-05	6.635e-05	0	9.189e-05	9.186e-05	0.0001	8.054e-05	0.0015	5.522e-05	4.36e-05	0.0008	0.0006	0	0	6.538e-05	0	0.0015	0	0	7.35e-05	0	0	0.25	0.17761	T	0.248	0.24477	T	0.001	0.09854	B	0.001	0.06944	B	0.140026	0.02878	N	1.862430	1	0.08975	N	0	0.06538	N	0.23	0.59851	T	-2.16	0.48850	N	0.088	0.07125	-1.0509	0.14147	T	0.114	0.40513	T	10	0.0080550015	0.00183	T	0.010161	0.26368	T	0.082	0.23913	.	.	0.383760037723	0.37989	0.25135576522842995	0.25049	0.0357140560537	0.03767	0.222281813622	0.01446	T	0.090139	0.38521	T	-0.585622	0.00178	T	-0.64936	0.08999	T	0.289837121963501	0.24583	T	0.685431	0.29402	T	0.054218873	0.10372	0.057978764	0.10636	0.054218873	0.10372	0.057978764	0.10635	-2.682	0.07371	T	.	.	0.073	0.06571	B	.;.;.;.	.;.;.;.	0.123782	0.05206	1.718	0.92458904503659822	0.21885	0.11539	0.16700	N	AEFDBHCI	0.137682	0.25874	N	-1.18807593611134	0.05180	0.2355156	-1.21748303069996	0.05629	0.2687259	0.999999531457911	0.74766	0.51972	0.21558	0	0.588066	0.40923	0	0.615948	0.41167	0	0.678554	0.66404	0	.	.	4.95	-0.272	0.12280	0.031000	0.13598	0.177000	0.15587	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.412:0.1586:0.2756:0.1538	0.931	0.01250	423	0.81269	.;.;.;.	.	.	.	.	.	Uncertain significance	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	1332.98	35	chr3	46409095	.	A	G	1332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=915;ExcessHet=0.0000;FS=11.024;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.856;SOR=0.193	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1347,0,1514	20	0	1	0
chr3	46438036	46438036	A	C	exonic	LTF	.	nonsynonymous SNV	LTF:NM_001199149:exon16:c.T1870G:p.C624G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.997	D	0.000	D	1.000	D	1.83	L	3.29	T	-1.192	T	0.047	T	0.936	3.967	20.3	4.95	2.173	7.545	11.582	0.438	0.0168416246501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28772	T	0.012	0.63918	D	0.998	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.705	0.44259	L	3.29	0.06445	T	-10.07	0.98864	D	0.881	0.88137	-1.1921	0.00219	T	0.047	0.20077	T	10	0.8405925	0.83214	D	0.016842	0.38283	T	0.438	0.74235	0.726	0.86024	0.525664996154	0.52213	0.6559542799452452	0.65531	0.193022807787	0.21635	0.570993483067	0.48819	T	0.259248	0.63049	T	0.186819	0.72670	D	0.0305763	0.72315	D	0.998691141605377	0.94887	D	0.89491	0.63503	D	0.93723077	0.94966	0.90918726	0.95630	0.93723077	0.94966	0.90918726	0.95631	-3.865	0.25305	T	.	.	0.868	0.80734	P	.;.;.;.	.;.;.;.	4.720985	0.75937	26.4	0.98034887944037019	0.37743	0.98426	0.82655	D	AEFI	0.941267	0.94431	D	0.708283068730576	0.80175	7.23652	0.687582971387945	0.81434	7.526053	0.999998637730704	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.95	4.95	0.64894	8.265000	0.89801	9.206000	0.79210	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	11.582	0.50153	423	0.81269	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;.;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1053.98	35	chr3	46438036	.	A	C	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=774;ExcessHet=0.0000;FS=0.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=0.124;SOR=0.559	GT:AD:DP:GQ:PL	0/1:56,43:99:99:1068,0,1332	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	1/1:0,78,0:78:99:3503,235,0,3503,235,3503	2	7	11	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	2/2:0,0,105:105:99:4663,4663,4663,316,316,0	0	4	6	0
chr3	51993843	51993843	-	CCTTGG	exonic	RPL29	.	nonframeshift insertion	RPL29:NM_000992:exon4:c.385_386insCCAAGG:p.K130_D131insAK,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	9890.36	23	chr3	51993837	.	TCCTTGG	TCCTTGGCCTTGG,T	9890.36	.	AC=10,8;AF=0.250,0.200;AN=40;BaseQRankSum=0.471;DP=604;ExcessHet=4.5531;FS=11.809;InbreedingCoeff=-0.2121;MLEAC=10,8;MLEAF=0.250,0.200;MQ=57.96;MQRankSum=0.00;QD=24.85;ReadPosRankSum=-3.600e-02;SOR=1.183	GT:AD:DP:GQ:PL	0/1:14,13,0:27:99:494,0,539,536,578,1114	5	0	8	1
chr3	53233167	53233167	C	T	exonic	TKT	.	nonsynonymous SNV	TKT:NM_001064:exon6:c.G737A:p.R246Q	Short stature, developmental delay, and congenital heart defects, Autosomal recessive	.	431	1065	25	1	0	27	0.0125174	.	.	698251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.981	D	0.333	B	0.000	D	1.000	D	0.445	N	1.95	T	-1.129	T	0.029	T	0.36	3.707	18.83	5.9	2.788	4.110	7.731	0.119	0.0146851353604	0.0032	0.00179712	0.0030	0.0010	0.0022	0	0.0002	0.0037	0.0022	0.0047	0.003053	472	154602	rs139694567	0.0043	0.0043	0.0043	0.0043	0.0099	0.0042	0.0042	0.0078	0.0071	0.0007	0.0026	0.0046	5.04e-05	0.0003	0.0099	0.0048	0.0044	0.0045	0.0028	0.0028	0.0029	0.0026	0.0041	0.0025	0.0025	0.0037	0.0035	0.0010	0	0.0031	0.0043	0.0002	0.0003	0.0068	0.0041	0.0066	0.0039	0.089	0.32141	T	0.055	0.48080	T	0.842	0.46562	P	0.253	0.39112	B	0.000001	0.62929	D	0.054326	0.999775	0.49394	D	0.76	0.19266	N	1.95	0.22474	T	-1.87	0.43717	N	0.518	0.57263	-1.1292	0.01821	T	0.029	0.12541	T	10	0.020147294	0.00459	T	0.014685	0.34971	T	0.119	0.33137	.	.	0.513674172182	0.51010	0.4065224521706497	0.40568	0.63453964438	0.57307	0.469364464283	0.34593	T	0.404	0.76037	T	-0.450405	0.01123	T	-0.418248	0.31276	T	0.0185645089946174	0.00571	T	0.985701	0.95103	D	0.37940398	0.59274	0.17648907	0.40186	0.5238036	0.68478	0.20858358	0.45165	-8.761	0.66145	D	0.2650634960635672	0.35741	0.090	0.17488	B	.;.;.;.	.;.;.;.	5.277650	0.88614	29.7	0.99869633706115868	0.94726	0.90007	0.50855	D	AEFGBHCI	0.616598	0.60310	D	0.320066418979664	0.57179	3.884338	0.443787975992137	0.64318	4.684352	0.999999999997967	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.9	5.9	0.94952	4.119000	0.57638	5.894000	0.50799	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.8106:0.0:0.1894	7.731	0.27951	476	0.77720	Transketolase, N-terminal;Transketolase, N-terminal;.;Transketolase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1409.98	38	chr3	53233167	.	C	T	1409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=1103;ExcessHet=0.0000;FS=2.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.40;ReadPosRankSum=-1.882e+00;SOR=1.126	GT:AD:DP:GQ:PL	0/1:35,51:86:99:1424,0,777	20	0	1	0
chr3	53235012	53235012	G	T	exonic	TKT	.	nonsynonymous SNV	TKT:NM_001064:exon5:c.C600A:p.D200E	Short stature, developmental delay, and congenital heart defects, Autosomal recessive	.	435	1061	25	1	0	27	0.012564	.	.	698252	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.49	T	0.0	B	0.003	B	0.000	N	0.699	D	-0.8	N	1.0	T	-1.038	T	0.022	T	0.074	-0.014	3.944	-8.32	-1.269	-0.826	3.486	0.121	0.0099925915377	0.0032	0.00179712	0.0030	0.0010	0.0021	0	0.0002	0.0037	0.0022	0.0047	0.0030077	465	154602	rs150551962	0.0043	0.0043	0.0042	0.0043	0.0099	0.0042	0.0042	0.0078	0.0071	0.0007	0.0025	0.0046	5.038e-05	0.0003	0.0099	0.0048	0.0044	0.0045	0.0028	0.0028	0.0029	0.0026	0.0041	0.0025	0.0025	0.0037	0.0035	0.0010	0	0.0031	0.0043	0.0002	0.0003	0.0068	0.0041	0.0066	0.0039	0.58	0.06282	T	0.604	0.07842	T	0.0	0.02946	B	0.003	0.08700	B	0.000001	0.84330	N	0.091707	0.699474	0.33406	D	-0.74	0.01752	N	1.0	0.41392	T	-0.11	0.08653	N	0.075	0.22742	-1.0383	0.17832	T	0.022	0.09559	T	10	0.0050515532	0.00109	T	0.009993	0.25990	T	0.121	0.33580	0.591	0.71999	0.188950314367	0.18478	0.2628957130852342	0.26202	0.346780503942	0.36582	0.441164582968	0.30736	T	0.25233	0.62270	T	-0.668634	0.00056	T	-0.731718	0.04250	T	0.000775153748033776	0.00007	T	0.821518	0.48098	T	0.20183973	0.42208	0.04764035	0.06905	0.21242823	0.43594	0.052317426	0.08596	-2.769	0.11000	T	0.08845102626155471	0.05302	0.095	0.24157	B	.;.;.;.	.;.;.;.	-0.594179	0.01588	0.107	0.52132479713537527	0.04690	0.24686	0.22470	N	AEFGBHCI	0.270188	0.38630	N	-1.78220852389748	0.00590	0.02542901	-1.80306897735056	0.00749	0.03340434	0.999999998898184	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.47	-8.32	0.00873	-1.110000	0.03417	-2.744000	0.03406	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5047:0.0729:0.2492:0.1733	3.486	0.07182	479	0.77495	Transketolase, N-terminal;Transketolase, N-terminal;.;Transketolase, 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	1593.98	33	chr3	53235012	.	G	T	1593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.084;DP=837;ExcessHet=0.0000;FS=5.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=0.177;SOR=0.740	GT:AD:DP:GQ:PL	0/1:89,66:155:99:1608,0,2314	20	0	1	0
chr3	57198277	57198277	G	A	exonic	HESX1	.	nonsynonymous SNV	HESX1:NM_003865:exon4:c.C478T:p.R160C	Growth hormone deficiency with pituitary anomalies, Autosomal recessive, Autosomal dominant;Pituitary hormone deficiency, combined, 5, Autosomal recessive, Autosomal dominant;Septooptic dysplasia, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	22730	Septo-optic_dysplasia_sequence	Human_Phenotype_Ontology:HP:0100842,MONDO:MONDO:0008428,MedGen:C0338503,OMIM:182230,Orphanet:3157	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	A	5.375	H	-4.38	D	0.895	D	0.993	D	0.986	3.602	18.34	5.25	2.619	5.917	19.217	0.912	0.7185837252	.	.	8.292e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs28936702	1.849e-05	1.915e-05	1.635e-05	2.065e-05	3.483e-05	1.266e-05	1.085e-05	1.296e-05	1.107e-05	0	0	3.83e-05	0	0	0	1.98e-05	1.658e-05	3.483e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	A	4.12	0.97420	H	-5.73	0.99303	D	-7.53	0.95131	D	0.807	0.80278	0.895	0.95608	D	0.993	0.99830	D	9	0.990981	0.99615	D	0.718584	0.97721	D	0.912	0.97662	0.975	0.99766	0.996147397946	0.99610	0.9106944834585501	0.91043	0.412041259716	0.41953	0.709908723831	0.68580	T	0.963952	0.99555	D	0.543851	0.95526	D	0.558914	0.95934	D	0.999748647212982	0.98780	D	0.994301	0.98122	D	0.9269811	0.93935	0.8542323	0.91789	0.9364005	0.94882	0.91244334	0.95863	-12.255	0.86071	D	0.9023530054800712	0.95335	0.978	0.91023	P	.;.;.	.;.;.	5.223516	0.87673	29.3	0.99914671999741123	0.98309	0.86840	0.46210	D	AEFBI	0.701049	0.65786	D	1.10222209724316	0.98175	17.60258	0.951438426263697	0.97446	16.14431	0.999999978199531	0.74766	0.608746	0.35421	0	0.633656	0.55848	0	0.731467	0.93227	0	0.444512	0.06955	0	.	.	5.25	5.25	0.73169	5.817000	0.68907	11.803000	0.96709	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.217	0.93770	436	0.80373	Homeobox domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	766.98	33	chr3	57198277	.	G	A	766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=778;ExcessHet=0.0000;FS=1.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.09;ReadPosRankSum=-2.870e-01;SOR=0.831	GT:AD:DP:GQ:PL	0/1:41,35:76:99:781,0,986	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|1:48,89:137:99:0|1:75730450_C_T:3572,0,1748:75730450	0	0	20	1
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I,	.	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1725.72	84	chr3	75730611	.	G	T	1725.72	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.901;DP=1563;ExcessHet=6.1002;FS=32.590;InbreedingCoeff=-0.3415;MLEAC=10;MLEAF=0.250;MQ=56.09;MQRankSum=-5.845e+00;QD=2.20;ReadPosRankSum=-2.408e+00;SOR=8.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,10:62:99:0|1:75730611_G_T:203,0,2079:75730611	10	0	10	1
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*	.	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	13057.87	155	chr3	75736884	.	G	GA	13057.87	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.070e-01;DP=3250;ExcessHet=25.1139;FS=1.336;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=56.86;MQRankSum=-7.182e+00;QD=4.87;ReadPosRankSum=0.148;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,41:119:99:0|1:75736884_G_GA:1472,0,3152:75736884	4	0	17	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F	.	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.024	B	0.002	B	.	.	1.000	N	0	N	3.37	T	-0.932	T	0.010	T	0.477	1.695	11.63	-0.734	-0.244	-0.140	5.509	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	30918.43	158	chr3	75736891	.	G	A	30918.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.300e-01;DP=3330;ExcessHet=43.6797;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=57.04;MQRankSum=-9.187e+00;QD=9.77;ReadPosRankSum=0.205;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,41:127:99:0|1:75736884_G_GA:1448,0,3488:75736884	1	0	20	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D	.	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.111	B	0.006	B	.	.	1.000	N	0	N	3.39	T	-0.948	T	0.010	T	0.567	0.479	6.601	-0.249	-0.078	-0.941	3.115	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28820.74	164	chr3	75736920	.	C	A	28820.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.130e-01;DP=3467;ExcessHet=54.0936;FS=2.025;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.55;MQRankSum=-8.791e+00;QD=8.35;ReadPosRankSum=0.030;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,34:129:99:0|1:75736884_G_GA:1142,0,3887:75736884	0	0	21	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I	.	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.219	B	0.007	B	.	.	1.000	N	0	N	3.47	T	-0.947	T	0.008	T	0.512	0.877	8.556	0.364	0.148	-0.065	3.729	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28464.74	166	chr3	75736928	.	C	T	28464.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.43;DP=3516;ExcessHet=54.0936;FS=0.608;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.92;MQRankSum=-9.076e+00;QD=8.18;ReadPosRankSum=-5.000e-02;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,32:126:99:0|1:75736884_G_GA:1061,0,3851:75736884	0	0	21	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R	.	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.02	B	0.004	B	.	.	1.000	N	0	N	5.46	T	-0.923	T	0.002	T	0.494	-0.366	2.277	-0.78	-0.138	-1.375	1.651	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	17679.81	152	chr3	75736981	.	T	C	17679.81	.	AC=17;AF=0.500;AN=34;BaseQRankSum=-2.640e-01;DP=3565;ExcessHet=25.1139;FS=0.572;InbreedingCoeff=-0.8248;MLEAC=19;MLEAF=0.559;MQ=52.43;MQRankSum=-7.792e+00;QD=6.08;ReadPosRankSum=-1.711e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/1:82,44:126:99:1102,0,2368	0	0	17	4
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K	.	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.049	B	0.048	B	.	.	1.000	N	-0.705	N	2.16	T	-0.957	T	0.015	T	0.509	0.585	7.159	-0.008	0.009	-2.650	2.041	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	25498.56	170	chr3	75737012	.	C	T	25498.56	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-8.280e-01;DP=3725;ExcessHet=36.0830;FS=0.550;InbreedingCoeff=-0.8529;MLEAC=19;MLEAF=0.475;MQ=53.26;MQRankSum=-5.813e+00;QD=7.76;ReadPosRankSum=-2.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:89,76:165:99:1901,0,2533	1	0	19	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P	.	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.178	B	0.056	B	.	.	1.000	N	2.8	M	3.15	T	-1.043	T	0.033	T	0.597	1.732	11.75	1.59	1.020	-3.336	7.316	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	33734.43	171	chr3	75737060	.	A	G	33734.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.003e+00;DP=4296;ExcessHet=43.6797;FS=0.535;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.79;MQRankSum=-5.923e+00;QD=8.57;ReadPosRankSum=1.41;SOR=0.754	GT:AD:DP:GQ:PL	0/1:87,108:195:99:2434,0,2252	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|1:93,121:214:99:0|1:75737092_C_T:4734,0,3471:75737092	0	0	21	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S	.	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.003	B	.	.	0.811	N	0.185	N	2.5	T	-0.966	T	0.015	T	0.48	0.761	8.026	-1.65	-0.344	-3.350	0.098	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66461.74	187	chr3	75737094	.	T	A	66461.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.054e+00;DP=4329;ExcessHet=54.0936;FS=4.136;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.41;MQRankSum=-9.552e+00;QD=15.42;ReadPosRankSum=0.880;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,122:215:99:0|1:75737092_C_T:4775,0,3468:75737092	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|1:89,117:206:99:0|1:75737092_C_T:4645,0,3385:75737092	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|1:87,107:194:99:0|1:75737092_C_T:4231,0,3331:75737092	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|1:82,63:145:99:0|1:75737092_C_T:2399,0,3225:75737092	0	0	21	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A	.	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.041	B	0.015	B	.	.	1.000	N	0.2	N	2.5	T	-0.978	T	0.017	T	0.263	-0.128	3.371	0.509	0.160	-3.097	4.801	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2374.81	109	chr3	75737228	.	T	C	2374.81	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.77;DP=2347;ExcessHet=7.7275;FS=19.670;InbreedingCoeff=-0.3588;MLEAC=11;MLEAF=0.262;MQ=57.63;MQRankSum=-9.053e+00;QD=1.98;ReadPosRankSum=-1.729e+00;SOR=2.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,14:88:99:0|1:75737228_T_C:241,0,3054:75737228	10	0	11	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S	.	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.588	P	0.118	B	.	.	1.000	N	0.78	N	3.45	T	-0.962	T	0.011	T	0.402	2.344	13.80	0.281	0.088	6.618	6.406	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	84334.74	182	chr3	75737519	.	G	A	84334.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.22;DP=4534;ExcessHet=54.0936;FS=3.213;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.20;MQRankSum=-6.820e+00;QD=19.56;ReadPosRankSum=0.348;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,159:236:99:0|1:75737519_G_A:6289,0,2658:75737519	0	0	21	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T	.	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.011	B	0.007	B	.	.	1.000	N	-0.05	N	3.17	T	-0.913	T	0.010	T	0.467	-0.210	2.980	-2.35	-0.437	-5.897	5.111	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	93431.74	214	chr3	75737590	.	A	G	93431.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.450e-01;DP=4965;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.17;MQRankSum=-1.228e+01;QD=19.03;ReadPosRankSum=0.838;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,191:286:99:0|1:75737586_A_T:7716,0,3414:75737586	0	0	21	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R	.	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.003	B	.	.	1.000	N	-0.66	N	3.16	T	-0.950	T	0.008	T	0.327	0.845	8.413	-3.14	-1.861	-0.144	4.750	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	99264.74	227	chr3	75737608	.	T	C	99264.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.102;DP=5151;ExcessHet=54.0936;FS=0.516;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=52.90;MQRankSum=-1.341e+01;QD=19.33;ReadPosRankSum=0.322;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,199:296:99:0|1:75737586_A_T:8064,0,3474:75737586	0	0	21	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S	.	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.89	P	0.451	P	.	.	1.000	N	2.965	M	2.96	T	-1.054	T	0.045	T	0.468	1.519	11.03	0.405	0.127	-1.802	5.213	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	101560.74	248	chr3	75737622	.	T	A	101560.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.388e+00;DP=5296;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.40;MQRankSum=-1.311e+01;QD=19.29;ReadPosRankSum=-1.560e-01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,209:303:99:0|1:75737586_A_T:8493,0,3318:75737586	0	0	21	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C	.	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.994	D	0.387	B	.	.	1.000	N	1.355	L	5.42	T	-0.871	T	0.003	T	0.447	0.648	7.478	0.774	0.291	-3.025	2.500	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	104187.74	246	chr3	75737651	.	G	A	104187.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.82;DP=5303;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.27;MQRankSum=-1.184e+01;QD=19.78;ReadPosRankSum=-8.750e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,207:292:99:0|1:75737586_A_T:8436,0,2946:75737586	0	0	21	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X	.	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.220	37	1.71	1.073	0.059	3.984	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	99202.74	235	chr3	75737676	.	A	T	99202.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.21;DP=4967;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.83;MQRankSum=-9.816e+00;QD=20.18;ReadPosRankSum=-1.028e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,177:249:99:0|1:75737586_A_T:7215,0,2490:75737586	0	0	21	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K	.	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.87	P	0.559	P	.	.	1.000	N	1.11	L	3.2	T	-1.016	T	0.024	T	0.38	2.298	13.64	0.993	0.389	-0.570	6.443	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.475	53271.84	236	chr3	75737840	.	C	T	53271.84	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-1.867e+00;DP=4970;ExcessHet=36.0830;FS=8.679;InbreedingCoeff=-0.8667;MLEAC=20;MLEAF=0.500;MQ=58.83;MQRankSum=-4.939e+00;QD=12.52;ReadPosRankSum=-2.000e-01;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,97:190:99:1|0:75737791_C_A:3665,0,3465:75737791	1	0	19	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R	.	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.035	B	0.038	B	.	.	1.000	N	4.015	H	-2.18	D	0.078	D	0.691	D	0.467	1.068	9.361	0.513	0.158	2.178	5.415	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	26024.74	185	chr3	75737881	.	T	C	26024.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.184e+00;DP=4449;ExcessHet=54.0936;FS=19.179;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.45;MQRankSum=-7.835e+00;QD=6.19;ReadPosRankSum=-4.722e+00;SOR=1.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,59:165:99:0|1:75737881_T_C:1856,0,4191:75737881	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|1:109,48:157:99:0|1:75737881_T_C:1592,0,4389:75737881	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|1:107,47:154:99:0|1:75737881_T_C:1626,0,4348:75737881	0	0	21	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4	.	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3726.99	218	chr3	75737947	.	CCT	C	3726.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.750e-01;DP=3538;ExcessHet=1.7912;FS=15.802;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=57.52;MQRankSum=-1.248e+01;QD=3.68;ReadPosRankSum=0.449;SOR=1.772	GT:AD:DP:GQ:PL	0/1:149,40:189:99:1231,0,6027	15	0	6	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|1:186,43:229:99:0|1:75737994_T_C:1246,0,7652:75737994	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|1:185,36:221:99:0|1:75737994_T_C:955,0,7660:75737994	5	0	13	3
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R	.	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	.	.	1.000	N	-0.87	N	3.21	T	-0.915	T	0.007	T	0.332	-1.903	0.008	-0.593	-0.086	-0.759	2.786	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	2892.1	214	chr3	75738071	.	A	G	2892.1	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-9.740e-01;DP=3983;ExcessHet=3.5521;FS=8.270;InbreedingCoeff=-0.2377;MLEAC=8;MLEAF=0.200;MQ=57.37;MQRankSum=-1.015e+01;QD=1.67;ReadPosRankSum=-1.907e+00;SOR=1.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,22:202:99:0|1:75737994_T_C:382,0,7492:75737994	12	0	8	1
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C	.	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	1.21	L	3.11	T	-0.989	T	0.016	T	0.343	0.147	4.790	-3.58	-1.677	-0.063	5.171	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	1932.26	212	chr3	75738074	.	G	A	1932.26	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-9.700e-02;DP=3886;ExcessHet=3.5521;FS=8.966;InbreedingCoeff=-0.2654;MLEAC=8;MLEAF=0.200;MQ=57.53;MQRankSum=-9.911e+00;QD=1.13;ReadPosRankSum=-2.333e+00;SOR=1.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,18:192:99:0|1:75737994_T_C:232,0,7252:75737994	12	0	8	1
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V	.	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	3.56	H	0.99	T	-0.796	T	0.314	T	0.499	2.958	15.86	1.91	1.185	4.477	7.900	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	1551.64	205	chr3	75738077	.	A	C	1551.64	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-1.917e+00;DP=3863;ExcessHet=3.5521;FS=11.803;InbreedingCoeff=-0.2553;MLEAC=8;MLEAF=0.200;MQ=57.57;MQRankSum=-9.670e+00;QD=0.92;ReadPosRankSum=-2.700e+00;SOR=1.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,17:190:99:0|1:75737994_T_C:193,0,7213:75737994	12	0	8	1
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E	.	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.981	D	0.792	P	.	.	1.000	N	1.63	L	1.0	T	-1.005	T	0.128	T	0.5	0.800	8.209	0.059	0.039	0.285	5.008	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	5856.69	126	chr3	75739165	.	C	T	5856.69	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-8.800e-02;DP=2841;ExcessHet=36.0830;FS=16.853;InbreedingCoeff=-0.8321;MLEAC=19;MLEAF=0.452;MQ=57.03;MQRankSum=-7.844e+00;QD=2.33;ReadPosRankSum=-1.424e+00;SOR=1.267	GT:AD:DP:GQ:PL	0/1:106,21:127:99:236,0,3090	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	0/1:47,38:85:99:793,0,1314	0	0	21	0
chr3	97875341	97875341	C	G	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.C4147G:p.L1383V,	.	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0249601	.	.	.	.	.	.	.	.	0.008414	219	26028	rs75843914	0.0046	0.0047	0.0038	0.0055	0.0702	0.0045	0.0045	0.0678	0.0669	0.0006	0.0213	0.0021	0.0702	0	0.0025	0.0002	0.0059	0.0425	0.0049	0.0050	0.0037	0.0062	0.0548	0.0046	0.0045	0.0496	0.0475	0.0009	0	0.0120	0.0014	0.0548	0	0.0034	0.0003	0.0043	0.0445	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00666	.	.	.	.	.	.	.	0.0036702454	0.00067	T	.	.	.	.	.	.	.	0.61907107664	0.61598	0.006938976387440674	0.00660	.	.	.	.	.	3.93E-4	0.00124	T	-0.592346	0.00162	T	-0.560261	0.16352	T	.	.	.	0.29697	0.05508	T	0.034461148	0.03870	0.09793139	0.23330	0.034461148	0.03870	0.09793139	0.23329	-3.433	0.15504	T	.	.	0.052	0.00239	B	.	.	-1.091764	0.00650	0.018	0.49300846330134845	0.04186	0.00533	0.02466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00212894333082125	0.09174	0.162113	0.03585	0	0.084543	0.02171	0	0.078618	0.02440	0	0.24566	0.04862	0	0.22281	0.31441	5.54	-1.58	0.08029	-0.145000	0.10248	-0.022000	0.12912	-0.791000	0.03245	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2729:0.1138:0.4988:0.1145	3.049	0.05790	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2620.11	34	chr3	97875341	.	C	G	2620.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.088e+00;DP=1614;ExcessHet=0.1072;FS=10.744;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=1.21;SOR=0.298	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1236,0,1224	19	0	2	0
chr3	98133457	98133457	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C760G:p.P254A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.151	B	0.232	B	0.355	N	1.000	N	0.99	L	8.7	T	-0.977	T	0.000	T	0.282	-0.269	2.712	-0.991	0.162	-0.392	0.252	0.060	0.000569954661155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.329e-05	0.0018	6.384e-05	4.27e-05	0.0002	4.354e-05	3.971e-05	8.053e-05	5.462e-05	0.0002	0	3.884e-05	0	0	0.0002	6.21e-05	1.708e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.034	0.52727	D	0.151	0.28027	B	0.232	0.38314	B	0.354555	0.13763	N	0.638540	1	0.08975	N	0.41	0.12415	N	8.7	0.00113	T	-2.42	0.53096	N	0.208	0.23125	-0.9765	0.35794	T	0.000	0.00114	T	10	0.06313068	0.08178	T	5.7E-4	0.00233	T	0.060	0.17295	0.376	0.38994	0.151104730317	0.14643	0.05160260000435715	0.05102	0.305303193982	0.32830	0.232944488525	0.02193	T	0.007444	0.06846	T	-0.267429	0.12046	T	-0.62192	0.11035	T	0.254086643457413	0.23055	T	0.806719	0.45571	T	0.06336548	0.13335	0.05555225	0.09765	0.06336548	0.13334	0.05555225	0.09764	-3.319	0.13984	T	.	.	0.103	0.18331	B	.;.	.;.	1.419986	0.18368	13.70	0.79297022959657282	0.12678	0.03061	0.07965	N	AEFI	0.062772	0.12088	N	-0.896657213234765	0.10921	0.5243543	-0.985832915716643	0.10103	0.5067427	1.9149263690292E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	-0.991	0.09712	-0.193000	0.09572	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.3369:0.2611:0.1662:0.2358	0.252	0.00192	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,24,0:87:99:0|1:98133457_C_G:422,0,2227,433,2330,2838:98133457	3	0	1	8
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,24,0:87:99:0|1:98133457_C_G:422,0,2227,433,2330,2838:98133457	3	0	1	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	378.19	118	chr3	98133459	.	C	G,*	378.19	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-1.973e+00;DP=1992;ExcessHet=6.1002;FS=147.603;InbreedingCoeff=-0.5184;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=2.40;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,23,0:89:99:0|1:98133457_C_G:388,0,2308,428,2424,3044:98133457	3	0	1	8
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:66,7,0,12,0,0:85:66:.:.:388,66,2897,431,2809,3089,0,2298,2427,2308,431,2809,3089,2427,3089,431,2809,3089,2427,3089,3089	0	0	5	10
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:66,7,0,12,0,0:85:66:.:.:388,66,2897,431,2809,3089,0,2298,2427,2308,431,2809,3089,2427,3089,431,2809,3089,2427,3089,3089	0	0	5	10
chr3	98133460	98133460	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C763G:p.L255V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.999	D	0.001	D	1.000	N	1.325	L	8.74	T	-0.730	T	0.001	T	0.254	0.426	6.315	3.57	1.818	-0.974	8.167	0.060	0.00117854807808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.962e-05	0.0018	9.935e-05	5.982e-05	0.0002	6.745e-05	6.308e-05	8.053e-05	7.118e-05	0.0002	0	0	2.539e-05	0	0	9.229e-05	6.835e-05	3.522e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.161	0.31326	T	1.0	0.90584	D	0.999	0.92359	D	0.000719	0.42254	D	0.000000	1	0.08975	N	1.055	0.26876	L	8.74	0.00084	T	-2.84	0.59873	D	0.082	0.05799	-0.7301	0.58959	T	0.001	0.00287	T	10	0.22429666	0.39230	T	0.001179	0.01509	T	0.060	0.17295	0.371	0.38176	0.298745278005	0.29478	0.048044440119727576	0.04747	0.654731206335	0.58542	0.272874593735	0.06519	T	0.007249	0.06665	T	-0.259952	0.12906	T	-0.61118	0.11889	T	0.845799565315247	0.49807	D	0.80082	0.44648	T	0.1752088	0.38366	0.14435342	0.34275	0.1752088	0.38366	0.14435342	0.34274	-3.447	0.15697	T	.	.	0.132	0.28492	B	.;.	.;.	2.299242	0.29417	18.12	0.98981953560601799	0.49760	0.02367	0.06739	N	AEFI	0.059639	0.11279	N	-0.196966090587521	0.33261	1.884947	-0.353468082146493	0.26402	1.458076	1.0108118885271E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	-0.690000	0.05240	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.2395:0.7605:0.0:0.0	8.167	0.30391	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:66,7,0,12,0,0:85:66:.:.:388,66,2897,431,2809,3089,0,2298,2427,2308,431,2809,3089,2427,3089,431,2809,3089,2427,3089,3089	0	0	5	10
chr3	98133460	98133460	-	GTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGTGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:66,7,0,12,0,0:85:66:.:.:388,66,2897,431,2809,3089,0,2298,2427,2308,431,2809,3089,2427,3089,431,2809,3089,2427,3089,3089	0	0	5	10
chr3	98133460	98133460	-	GGTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGTGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:66,7,0,12,0,0:85:66:.:.:388,66,2897,431,2809,3089,0,2298,2427,2308,431,2809,3089,2427,3089,431,2809,3089,2427,3089,3089	0	0	5	10
chr3	98354353	98354353	C	T	exonic	OR5K4	.	nonsynonymous SNV	OR5K4:NM_001005517:exon1:c.C500T:p.T167I,	.	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.091	B	0.158	B	0.083	U	1.000	N	2.32	M	8.73	T	-1.026	T	0.001	T	0.331	0.414	6.249	3.14	0.761	0.214	8.581	0.065	0.00116257791848	.	0.000798722	0.0006	0	0.0003	0	0	0.0002	0	0.0035	0.0005627	87	154602	rs200319864	0.0003	0.0003	0.0003	0.0004	0.0033	0.0003	0.0003	0.0030	0.0029	0	0.0001	0	0	0	0.0024	0.0002	0.0005	0.0033	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0001	0.0022	0.0018	0	0	0	0	0.0002	0	0	0.0002	0.0009	0.0035	0.027	0.46513	D	0.093	0.39799	T	0.091	0.25247	B	0.158	0.34617	B	0.082869	0.20785	U	0.245457	1	0.08975	N	2.005	0.54552	M	8.73	0.00091	T	-4.72	0.79998	D	0.237	0.26717	-1.0255	0.21919	T	0.001	0.00255	T	10	0.011091977	0.00244	T	0.001163	0.01459	T	0.065	0.18881	.	.	0.146414634003	0.14194	0.11858389257733806	0.11785	0.0103282779288	0.00949	0.212327748537	0.00914	T	0.008401	0.07715	T	-0.542561	0.00323	T	-0.554864	0.16861	T	0.0866907032853627	0.10821	T	0.727127	0.34152	T	0.23283513	0.46078	0.3193494	0.57897	0.23283513	0.46078	0.3193494	0.57896	-6.088	0.47010	T	.	.	0.188	0.40457	B	.	.	1.762983	0.22423	15.61	0.99344118048459207	0.60291	0.11086	0.16398	N	AEFI	0.088665	0.17974	N	-0.42138307726111	0.24721	1.336837	-0.451914550562452	0.23495	1.281552	6.55504801669791E-6	0.01202	0.487112	0.14033	0	0.55458	0.17659	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.97	3.14	0.35196	0.251000	0.18025	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.236000	0.22896	0.0:0.7598:0.1543:0.0859	8.581	0.32788	773	0.48803	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	2341.98	33	chr3	98354353	.	C	T	2341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.250e-01;DP=1025;ExcessHet=0.0000;FS=3.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.015e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/1:91,90:181:99:2356,0,2438	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	0/1:139,36:175:87:87,0,2652	12	0	8	1
chr3	100775231	100775231	C	G	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.G2284C:p.V762L	.	.	428	1053	38	3	0	44	0.0204651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.605	P	0.17	B	0.254	N	1.000	N	0.69	N	2.3	T	-1.059	T	0.023	T	0.202	2.061	12.85	4.13	1.242	0.984	9.451	0.015	.	0.0024	0.00778754	0.0058	0.0001	0.0038	0.0001	0.0002	0.0030	0.0053	0.0282	0.0045924	710	154602	rs141302553	0.0036	0.0037	0.0030	0.0043	0.0235	0.0036	0.0035	0.0227	0.0223	0.0005	0.0031	0.0007	0	0.0003	0.0147	0.0025	0.0037	0.0235	0.0026	0.0026	0.0023	0.0029	0.0243	0.0024	0.0023	0.0207	0.0194	0.0004	0	0.0027	0.0003	0	0.0002	0.0068	0.0030	0.0038	0.0243	0.052	0.39097	T	0.242	0.24264	T	0.575	0.38708	P	0.17	0.35299	B	0.254282	0.15444	N	0.663319	0.999809	0.20292	N	1.01	0.25309	L	2.3	0.22067	T	-1.15	0.29525	N	0.183	0.19861	-1.0594	0.11905	T	0.023	0.09832	T	10	0.003952503	0.00076	T	.	.	.	0.015	0.02232	.	.	0.527759996296	0.52422	0.28051411292793593	0.27964	0.0954240108754	0.10779	0.301007211208	0.10550	T	0.018758	0.26335	T	-0.544653	0.00314	T	-0.536879	0.18604	T	0.0113682145057753	0.00169	T	0.855414	0.54290	D	0.087015405	0.20245	0.07827063	0.17516	0.087015405	0.20245	0.07827063	0.17516	.	.	.	.	.	0.166	0.36515	B	.;.;.	.;.;.	1.770697	0.22515	15.65	0.98556643482280593	0.42922	0.60854	0.31315	D	AEFBI	0.218867	0.34383	N	-0.345431351367633	0.27441	1.505536	-0.236779375550058	0.30228	1.700263	0.993254032926957	0.33144	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.0	4.13	0.47661	1.054000	0.30064	1.754000	0.28498	0.549000	0.26987	0.504000	0.26986	0.003000	0.18671	0.502000	0.29062	0.0:0.9006:0.0:0.0994	9.451	0.37891	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	793.98	37	chr3	100775231	.	C	G	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.204;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=0.541;SOR=0.704	GT:AD:DP:GQ:PL	0/1:38,36:74:99:808,0,863	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	0/1:29,15:44:47:.:.:47,0,429	4	0	17	0
chr3	113657270	113657272	TGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4412del:p.Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/3:0,38,0,24,0,0:62:99:2528,981,852,2528,980,2559,1535,0,1579,1544,2528,980,2559,1579,2559,2528,980,2559,1579,2559,2559	0	4	0	0
chr3	113657267	113657272	TGCTGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4415del:p.Q1477_Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/3:0,38,0,24,0,0:62:99:2528,981,852,2528,980,2559,1535,0,1579,1544,2528,980,2559,1579,2559,2528,980,2559,1579,2559,2559	0	4	0	0
chr3	113657272	113657272	-	TGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCA:p.Q1478_A1479insQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/3:0,38,0,24,0,0:62:99:2528,981,852,2528,980,2559,1535,0,1579,1544,2528,980,2559,1579,2559,2528,980,2559,1579,2559,2559	0	4	0	0
chr3	113657272	113657272	-	TGCTGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCAGCA:p.Q1478_A1479insQQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/3:0,38,0,24,0,0:62:99:2528,981,852,2528,980,2559,1535,0,1579,1544,2528,980,2559,1579,2559,2528,980,2559,1579,2559,2559	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	0/1:85,99:184:99:2588,0,2135	18	0	3	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	0/1:75,27:114:20:20,0,1362	3	0	14	4
chr3	121872672	121872672	C	T	exonic	EAF2	.	nonsynonymous SNV	EAF2:NM_001320041:exon4:c.C230T:p.S77F	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.779	P	0.177	B	0.126	N	1.000	N	1.905	M	.	.	-1.009	T	0.072	T	0.209	0.762	8.030	3.86	1.186	3.332	11.145	0.086	.	.	0.00159744	0.0011	0	8.703e-05	0.0150	0	0	0	6.065e-05	0.0009573	148	154602	rs200859609	0.0004	0.0004	0.0003	0.0004	0.0117	0.0003	0.0003	0.0108	0.0105	0	0	0	0.0117	0	0	5.398e-06	0.0007	0.0002	0.0005	0.0005	0.0004	0.0005	0.0128	0.0004	0.0004	0.0103	0.0094	0	0	0.0004	0	0.0128	0	0	0	0.0009	0	0.027	0.58626	D	0.423	0.62352	T	0.779	0.44223	P	0.177	0.35687	B	0.126177	0.18814	N	0.553824	1	0.08975	N	2.78	0.81115	M	.	.	.	-1.75	0.45404	N	0.333	0.37820	-1.0092	0.27167	T	0.072	0.29098	T	9	0.0046519935	0.00097	T	.	.	.	0.086	0.25016	.	.	0.209622950755	0.20551	0.1851376496143711	0.18431	0.201334601978	0.22533	0.328157424927	0.14656	T	0.178404	0.52904	T	-0.433669	0.01409	T	-0.382738	0.35401	T	0.0665746978342997	0.08161	T	0.734227	0.35027	T	0.05003569	0.08978	0.08015399	0.18106	0.05003569	0.08978	0.08015399	0.18106	-7.395	0.56869	T	.	.	0.102	0.22171	B	.;.	.;.	3.070616	0.41274	21.3	0.98581279728790761	0.43245	0.45273	0.27502	N	AEFBI	0.124874	0.24113	N	-0.250156032301205	0.31096	1.740337	-0.339082136321548	0.26849	1.485724	0.0900319818834573	0.16099	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.75	3.86	0.43689	3.677000	0.54354	5.612000	0.49058	0.549000	0.26987	0.382000	0.26022	1.000000	0.68203	0.466000	0.28252	0.0:0.9077:0.0:0.0922	11.145	0.47648	668	0.61153	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1554.98	34	chr3	121872672	.	C	T	1554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.662;DP=782;ExcessHet=0.0000;FS=1.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.20;ReadPosRankSum=-1.283e+00;SOR=0.533	GT:AD:DP:GQ:PL	0/1:39,57:96:99:1569,0,935	20	0	1	0
chr3	124796785	124796785	G	C	exonic	ITGB5	.	nonsynonymous SNV	ITGB5:NM_001354766:exon9:c.C837G:p.S279R	.	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.014	B	0.016	B	0.000	N	1.000	D	0.415	N	-0.18	T	-0.920	T	0.143	T	0.489	1.826	12.06	4.32	2.735	4.380	14.465	0.061	0.0129158891781	0.0004	0.000399361	0.0012	0	0.0002	0	0	0.0007	0.0012	0.0063	0.0009508	147	154602	rs150312150	0.0006	0.0006	0.0004	0.0008	0.0059	0.0006	0.0006	0.0054	0.0053	0	0.0003	0.0046	0	0	0.0035	0.0002	0.0007	0.0059	0.0005	0.0005	0.0005	0.0005	0.0046	0.0004	0.0004	0.0031	0.0026	9.62e-05	0	0.0007	0.0052	0	0	0	0.0004	0	0.0046	0.052	0.39097	T	0.249	0.23776	T	0.014	0.16867	B	0.016	0.17743	B	0.000000	0.84330	N	0.086462	0.999955	0.52396	D	1.665	0.42610	L	-0.18	0.65747	T	-2.15	0.48687	N	0.457	0.49420	-0.9201	0.45540	T	0.143	0.46532	T	10	0.022109747	0.00544	T	0.012916	0.31907	T	0.148	0.39182	0.367	0.37524	0.746073329902	0.74378	0.6587996648570885	0.65816	0.744109997126	0.63423	0.430301964283	0.29249	T	0.612137	0.87723	D	-0.322596	0.06687	T	-0.234382	0.51345	T	0.0383054088154707	0.03386	T	0.831417	0.60805	T	0.3502235	0.57085	0.3172702	0.57702	0.3502235	0.57085	0.3172702	0.57702	-4.225	0.27112	T	.	.	0.333	0.55424	B	.;.	.;.	2.870006	0.37944	20.6	0.99215733822871466	0.55747	0.93104	0.57338	D	AEFDBHCI	0.797201	0.72411	D	-0.0933624009340882	0.37683	2.195936	0.100109165932602	0.44555	2.734984	0.999999973673797	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.26	4.32	0.50899	4.672000	0.61290	4.393000	0.43220	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0811:0.0:0.9189:0.0	14.465	0.67053	878	0.29785	Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	855.98	35	chr3	124796785	.	G	C	855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.508e+00;DP=797;ExcessHet=0.0000;FS=1.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.02;ReadPosRankSum=0.193;SOR=0.467	GT:AD:DP:GQ:PL	0/1:25,32:57:99:870,0,740	20	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T,	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.813	P	0.991	D	0.000	D	1.000	D	3.135	M	.	.	0.283	D	0.586	D	0.853	4.605	25.1	5.96	2.285	8.040	16.434	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	1753.27	33	chr3	128055734	.	T	C	1753.27	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.562e+00;DP=1413;ExcessHet=14.4320;FS=89.774;InbreedingCoeff=-0.4973;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=0.471;SOR=10.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,16:72:99:.:.:202,0,1245	7	0	14	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|1:53,12,0:65:56:0|1:130421334_G_C:56,0,1825,215,1859,2074:130421334	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|1:53,12,0:65:56:0|1:130421334_G_C:56,0,1825,215,1859,2074:130421334	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|2:39,0,31,0:70:99:0|1:130421334_G_C:723,838,1944,0,1105,1014,838,1944,1105,1944:130421334	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|2:39,0,31,0:70:99:0|1:130421334_G_C:723,838,1944,0,1105,1014,838,1944,1105,1944:130421334	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|2:39,0,31,0:70:99:0|1:130421334_G_C:723,838,1944,0,1105,1014,838,1944,1105,1944:130421334	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|1:39,31,0:70:99:0|1:130421334_G_C:723,0,1014,838,1105,1944:130421334	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|1:39,31,0:70:99:0|1:130421334_G_C:723,0,1014,838,1105,1944:130421334	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|1:52,13,0:65:66:0|1:130421334_G_C:66,0,1800,221,1838,2059:130421334	6	0	10	4
chr3	133947398	133947398	T	C	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon9:c.A1153G:p.I385V,	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.515	P	0.214	B	0.000	D	0.999	D	0.485	N	0.34	T	-1.034	T	0.088	T	0.14	-0.133	3.349	5.58	2.116	1.120	12.297	0.103	0.0135174260585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.287e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06992	T	0.278	0.32022	B	0.214	0.37471	B	0.000082	0.51296	D	0.172856	0.998569	0.45092	D	1.025	0.25523	L	0.34	0.58176	T	-0.08	0.09297	N	0.286	0.32370	-1.0337	0.19268	T	0.088	0.33913	T	10	0.1741527	0.32279	T	0.013517	0.32986	T	0.103	0.29403	0.552	0.66856	0.456368778954	0.45261	0.17417772395812692	0.17336	0.180607798138	0.20310	0.483463734388	0.36534	T	0.058665	0.30903	T	-0.178178	0.24006	T	-0.493717	0.23001	T	0.238408386707306	0.22346	T	0.763624	0.39028	T	0.072592154	0.16160	0.090469114	0.21215	0.072592154	0.16159	0.090469114	0.21214	-2.945	0.09600	T	0.1471760560640755	0.17034	0.085	0.18122	B	.;.	.;.	1.737092	0.22105	15.48	0.72376456997053173	0.09952	0.69810	0.34336	D	AEFDBI	0.285429	0.39806	N	-0.239153582156905	0.31538	1.769466	-0.054687819197049	0.37289	2.181248	0.999827058612655	0.43622	0.740787	0.97801	0	0.59043	0.45803	0	0.658983	0.55881	0	0.673998	0.66042	0	.	.	5.58	5.58	0.84361	1.446000	0.34701	2.941000	0.35666	-0.715000	0.03906	0.917000	0.31872	0.999000	0.35428	0.795000	0.37519	0.0:0.0:0.1413:0.8587	12.297	0.54172	713	0.56348	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	41.22	34	chr3	133947398	.	T	C	41.22	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.838e+00;DP=1467;ExcessHet=0.3300;FS=122.093;InbreedingCoeff=-0.0725;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.17;ReadPosRankSum=0.287;SOR=10.352	GT:AD:DP:GQ:PL	0/1:63,19:82:5:5,0,1259	18	0	3	0
chr3	133955008	133955008	C	T	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon4:c.G583A:p.V195M,	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.995	D	0.000	D	1.000	D	1.225	L	1.09	T	-0.753	T	0.195	T	0.548	2.579	14.58	5.02	1.504	2.928	15.082	0.314	0.067379731123	.	.	4.123e-05	0	0	0	0.0008	0	0	0	3.23e-05	5	154602	rs758784301	6.157e-06	6.156e-06	9.529e-06	2.75e-06	.	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0001	0	0	3.312e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0.0002	0	0	0	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000001	0.62929	D	0.056075	0.999998	0.81001	D	2.05	0.56469	M	1.09	0.39223	T	-1.98	0.45769	N	0.728	0.72925	-0.7528	0.57789	T	0.195	0.54913	T	10	0.71671367	0.73394	D	0.06738	0.70150	D	0.314	0.63588	0.761	0.88972	0.39619538035	0.39233	0.7821353079601289	0.78164	0.536128822372	0.50953	0.665987491608	0.62266	T	0.170067	0.51768	T	-0.0306994	0.47314	T	-0.281874	0.46612	T	0.495661199092865	0.32471	T	0.958204	0.84269	D	0.4868763	0.66316	0.48913142	0.70440	0.4868763	0.66317	0.48913142	0.70441	-8.348	0.63418	D	0.30333367949773443	0.40082	0.613	0.69407	P	.	.	4.583924	0.72443	25.8	0.99848218779777209	0.92750	0.81169	0.40630	D	AEFDBI	0.327265	0.42829	N	0.21072002682775	0.51717	3.350868	0.181642707625011	0.48843	3.094773	0.976521420220361	0.29733	0.651	0.46895	0	0.588015	0.36545	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.89	5.02	0.66742	2.842000	0.47931	6.007000	0.52582	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.991000	0.66497	0.0:0.9322:0.0:0.0678	15.082	0.71794	713	0.56348	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	1177.98	35	chr3	133955008	.	C	T	1177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.703;DP=777;ExcessHet=0.0000;FS=3.473;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.14;ReadPosRankSum=0.746;SOR=0.347	GT:AD:DP:GQ:PL	0/1:30,43:73:99:1192,0,696	20	0	1	0
chr3	134537191	134537191	C	T	exonic	CEP63	.	nonsynonymous SNV	CEP63:NM_001042383:exon6:c.C478T:p.R160C	.	.	.	.	.	.	.	.	.	.	.	3163537	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	2.135	M	1.94	T	-0.721	T	0.241	T	0.893	4.332	22.8	5.7	2.673	2.577	19.842	0.221	0.0216134560464	.	.	2.473e-05	0	0	0.0003	0	0	0	0	1.94e-05	3	154602	rs147553684	6.158e-06	6.841e-06	6.808e-06	5.501e-06	0.0002	2.9e-06	2.1e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.498e-06	4.969e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	1.94	0.37405	T	-5.39	0.87300	D	0.598	0.61764	-0.7207	0.59429	T	0.241	0.60941	T	10	0.4937149	0.61142	T	0.021613	0.44401	T	0.221	0.51721	0.299	0.26522	0.717097244813	0.71461	0.36918821376820865	0.36832	0.248968393867	0.27470	0.780515313148	0.79005	T	0.176956	0.69652	T	0.0357391	0.56484	T	0.105709	0.77287	D	0.85416179895401	0.50528	D	0.980402	0.95926	D	0.6686819	0.76362	0.5396241	0.73393	0.6686819	0.76363	0.5396241	0.73394	-8.742	0.67368	D	0.5245315512075456	0.59630	0.251	0.53959	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.526969	0.91835	32	0.99931911437267462	0.99439	0.87951	0.47673	D	AEFBI	0.576500	0.57847	D	0.693494983763843	0.79205	7.029021	0.677115797936079	0.80644	7.344972	0.999999982594055	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	2.520000	0.45215	3.340000	0.37699	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.842	0.96691	921	0.19240	.;.;Centrosomal protein Cep63/Deup1, N-terminal;.;.;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, 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	1	0	0	0	0	0	0	0.02381	654.98	34	chr3	134537191	.	C	T	654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.336e+00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.73;ReadPosRankSum=-7.480e-01;SOR=0.706	GT:AD:DP:GQ:PL	0/1:42,33:75:99:669,0,986	20	0	1	0
chr3	140678379	140678379	C	G	exonic	TRIM42	.	nonsynonymous SNV	TRIM42:NM_152616:exon1:c.C150G:p.C50W,	.	.	423	1092	7	0	0	7	0.00319489	.	.	2336128	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.887	P	0.101	N	1.000	D	0	N	1.04	T	-1.041	T	0.097	T	0.687	2.858	15.52	3.76	0.710	1.442	8.257	0.234	0.0157483482268	0.0005	.	0.0006	0	0.0007	0	0	0.0008	0.0011	0.0003	0.0004657	72	154602	rs141361028	0.0005	0.0005	0.0005	0.0005	0.0064	0.0004	0.0004	0.0048	0.0042	0.0001	0.0009	0.0046	0	0	0.0064	0.0004	0.0010	0.0004	0.0008	0.0008	0.0007	0.0009	0.0029	0.0007	0.0006	0.0022	0.0020	0.0002	0	0.0029	0.0043	0	0	0.0068	0.0007	0.0009	0.0002	0.069	0.35537	T	0.222	0.25748	T	0.999	0.77913	D	0.887	0.62952	P	0.101498	0.19837	N	0.511513	0.999946	0.51968	D	1.04	0.26193	L	1.04	0.40218	T	-1.85	0.43334	N	0.785	0.78167	-1.0414	0.16890	T	0.097	0.36315	T	10	0.08149922	0.13349	T	0.015748	0.36654	T	0.234	0.53644	.	.	0.502878934189	0.49925	0.8091116214778893	0.80866	0.961546008612	0.73030	0.723027408123	0.70487	T	0.005089	0.04527	T	-0.300767	0.08588	T	-0.268186	0.48002	T	0.0547075814622254	0.06308	T	0.679332	0.28809	T	0.19993033	0.41950	0.16060242	0.37398	0.19993033	0.41950	0.16060242	0.37397	-6.701	0.51818	T	.	.	0.927	0.84804	P	.	.	3.700671	0.52779	23.3	0.99298717592739283	0.58541	0.80023	0.39774	D	AEFI	0.499204	0.53299	N	0.172065467400196	0.49862	3.181898	0.213339131662549	0.50586	3.249167	1.32045791463176E-4	0.05486	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	3.76	0.42368	1.477000	0.35039	0.821000	0.21853	-0.182000	0.10109	1.000000	0.71638	0.999000	0.35428	0.927000	0.46353	0.0:0.8191:0.0:0.1809	8.257	0.30923	564	0.70960	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3894.98	36	chr3	140678379	.	C	G	3894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.050;DP=1014;ExcessHet=0.0000;FS=6.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-9.720e-01;SOR=1.034	GT:AD:DP:GQ:PL	0/1:140,153:293:99:3909,0,3492	20	0	1	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	0/1:29,28:57:99:772,0,827	19	0	2	0
chr3	160677917	160677917	C	T	exonic	ARL14	.	stopgain	ARL14:NM_025047:exon1:c.C571T:p.Q191X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.762	U	0.925	N	.	.	.	.	.	.	.	.	.	5.588	35	5.75	2.716	0.670	14.971	.	.	.	.	1.724e-05	0	8.777e-05	0	0	1.545e-05	0	0	1.29e-05	2	154602	rs771563756	1.098e-05	1.094e-05	1.364e-05	8.283e-06	9.016e-05	6.5e-06	5.26e-06	3.001e-05	1.815e-05	0	9.016e-05	0	0	0	0	9.917e-06	1.662e-05	0	3.29e-05	3.284e-05	3.858e-05	2.695e-05	0.0003	1.262e-05	7.99e-06	0.0001	8.29e-05	0	0	0.0003	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.761877	0.06544	U	1.205560	0.925479	0.27191	N	.	.	.	.	.	.	.	.	.	0.037	0.01135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34709	0.86311	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.208983	0.97298	37	0.99620114775872926	0.75353	0.35339	0.25279	N	AEFDGBCI	0.172098	0.29911	N	0.97375554759375	0.94880	13.11734	0.822576317194873	0.91318	10.82606	0.999999999928181	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.635259	0.50027	0	.	.	5.75	5.75	0.90390	0.614000	0.24009	3.952000	0.40682	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.980000	0.58198	0.0:0.8566:0.1434:0.0	14.971	0.70884	702	0.57624	.	.	.	.	.	.	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	952.98	44	chr3	160677917	.	C	T	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.017e+00;DP=822;ExcessHet=0.0000;FS=2.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=0.592;SOR=0.412	GT:AD:DP:GQ:PL	0/1:38,38:76:99:967,0,1054	20	0	1	0
chr3	186251809	186251809	C	T	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon18:c.G1636A:p.G546R	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.985	D	0.000	D	1.000	D	2.205	M	0.6	T	-0.358	T	0.334	T	0.913	3.855	19.58	4.74	2.645	7.579	17.022	0.451	0.035765125741	.	.	4.128e-05	0	0	0	0	1.501e-05	0	0.0002	3.23e-05	5	154602	rs79928844	3.352e-05	3.42e-05	3.54e-05	3.163e-05	0.0002	2.566e-05	2.312e-05	0.0002	0.0001	5.975e-05	2.237e-05	0	7.56e-05	0	0.0002	1.799e-05	1.656e-05	0.0002	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	0.0002	0	0	2.94e-05	0	0	0.01	0.58626	D	0.01	0.65728	D	0.999	0.90584	D	0.952	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.78	0.46185	L	0.6	0.54540	T	-5.79	0.88065	D	0.77	0.76760	-0.3579	0.73325	T	0.334	0.70101	T	10	0.7538474	0.75834	D	0.035765	0.56560	D	0.451	0.75143	0.277	0.23004	0.88496615109	0.88383	0.6973716162950228	0.69678	0.463572617837	0.45859	0.733421444893	0.72006	T	0.371873	0.73616	T	0.086979	0.62847	D	0.146842	0.79983	D	0.861284852027893	0.51168	D	0.962204	0.86689	D	0.49472776	0.66784	0.4131499	0.65496	0.49472776	0.66785	0.4131499	0.65496	-10.06	0.79675	D	.	.	0.608	0.69202	P	.;.;.	.;.;.	5.248700	0.88117	29.5	0.9987160441080144	0.94902	0.99077	0.90888	D	AEFDBI	0.967388	0.98986	D	0.759226325055771	0.83506	8.034875	0.71744485843587	0.83703	8.092018	0.999999999999936	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.74	4.74	0.59717	7.905000	0.86479	7.719000	0.67224	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.022	0.86309	573	0.70213	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	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	1681.98	35	chr3	186251809	.	C	T	1681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.400;DP=840;ExcessHet=0.0000;FS=2.941;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-1.808e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/1:71,74:145:99:1696,0,1556	20	0	1	0
chr3	186741585	186741585	A	C	exonic	KNG1	.	nonsynonymous SNV	KNG1:NM_001166451:exon9:c.A1081C:p.K361Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.707	P	0.299	B	0.202	N	1.000	N	1.04	L	2.35	T	-0.953	T	0.053	T	0.044	-0.533	1.576	-7.34	-1.406	-0.302	15.123	0.060	0.00318795038732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.35537	T	0.138	0.48855	T	0.707	0.42016	P	0.299	0.41006	B	0.201627	0.03324	N	1.585020	1	0.08975	N	1.67	0.42885	L	2.35	0.25678	T	-1.0	0.35991	N	0.056	0.10911	-0.9532	0.40416	T	0.053	0.22462	T	10	0.118202835	0.22342	T	0.003188	0.06996	T	0.060	0.17295	0.314	0.28935	0.268660756437	0.26461	0.3954710042193623	0.39462	0.0737171720781	0.08266	0.213217824697	0.00955	T	0.276541	0.64913	T	-0.355837	0.04371	T	-0.748911	0.03529	T	0.13101558985902	0.15476	T	0.646135	0.26583	T	0.08316409	0.19193	0.07316507	0.15868	0.08316409	0.19193	0.07316507	0.15868	-3.838	0.21373	T	.	.	0.102	0.17869	B	.;.;.;.;.	.;.;.;.;.	0.280167	0.06573	3.060	0.39860921061931748	0.02777	0.08700	0.14591	N	AEBI	0.761657	0.69930	D	-1.18455178337909	0.05233	0.2380878	-1.35766372336836	0.03716	0.1739217	0.999999697123509	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.18	-7.34	0.01280	-0.305000	0.08227	-0.390000	0.09482	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.3161:0.0:0.6839:0.0	15.123	0.72133	934	0.15400	.;.;.;.;.	.	.	.	.	.	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	759.98	35	chr3	186741585	.	A	C	759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.218e+00;DP=743;ExcessHet=0.0000;FS=1.311;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.89;ReadPosRankSum=0.440;SOR=1.098	GT:AD:DP:GQ:PL	0/1:18,27:45:99:774,0,483	20	0	1	0
chr3	195778964	195778964	C	0	exonic	MUC4	.	.	.	.	.	456	799	118	0	149	267	0.0687646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	1929.74	302	chr3	195778964	.	C	*,T	1929.74	.	AC=5,2;AF=0.192,0.077;AN=26;BaseQRankSum=1.84;DP=7379;ExcessHet=2.9153;FS=0.592;InbreedingCoeff=-0.2440;MLEAC=7,3;MLEAF=0.269,0.115;MQ=57.13;MQRankSum=-5.602e+00;QD=0.71;ReadPosRankSum=-4.412e+00;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:455,156,0:611:99:.:.:3902,0,18014,5286,18464,23750	6	0	5	8
chr3	195778967	195778967	G	0	exonic	MUC4	.	.	.	.	.	444	848	112	0	118	230	0.0619469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1663.5	302	chr3	195778967	.	G	C,*	1663.5	.	AC=2,3;AF=0.083,0.125;AN=24;BaseQRankSum=2.58;DP=7152;ExcessHet=1.3830;FS=0.614;InbreedingCoeff=-0.1308;MLEAC=3,5;MLEAF=0.125,0.208;MQ=58.02;MQRankSum=0.102;QD=0.77;ReadPosRankSum=-1.159e+00;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:455,0,156:611:99:.:.:3902,5286,23750,0,18464,18014	7	0	2	9
chr3	195779036	195779036	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	73.76	280	chr3	195779036	.	T	*,G	73.76	.	AC=10,3;AF=0.333,0.100;AN=30;BaseQRankSum=-1.320e+00;DP=7021;ExcessHet=0.4264;FS=3.231;InbreedingCoeff=0.0544;MLEAC=13,4;MLEAF=0.433,0.133;MQ=54.24;MQRankSum=-3.656e+00;QD=0.02;ReadPosRankSum=-2.400e+00;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:455,156,0:611:99:.:.:3902,0,18014,5286,18464,23750	5	1	6	6
chr3	195779399	195779399	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12181G:p.H4061D,	.	.	479	819	90	122	12	346	0.169371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	B	0.0	B	.	.	1.000	N	0.55	N	1.55	T	-1.006	T	0.036	T	0.079	-1.535	0.016	.	-0.833	-0.021	4.708	0.013	0.00218180284521	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0002	1.29e-05	2	154602	rs547257415	0.0006	0.0007	0.0004	0.0007	0.0030	0.0005	0.0005	0.0027	0.0026	4.2e-05	9.345e-05	0.0046	3.482e-05	0	0.0006	0.0004	0.0010	0.0030	3.88e-05	0.0004	2.522e-05	5.311e-05	8.501e-05	1.03e-05	4.86e-06	2.253e-05	1.224e-05	0	0	0	0	0	0	0	8.501e-05	0	0	1.0	0.00964	T	0.564	0.08991	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.08	0.10480	N	0.275	0.33578	-1.0061	0.28126	T	0.036	0.15422	T	7	0.036696404	0.01982	T	0.002182	0.04098	T	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021866061651874694	0.00202	.	.	0.568512201309	0.48467	T	.	.	.	-0.315178	0.07299	T	-0.690508	0.06360	T	0.0220143818898419	0.00910	T	0.528747	0.17479	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08802	B	.;.	.;.	1.068807	0.14510	11.08	0.47329398998956096	0.03861	0.00301	0.01603	N	AEFBI	0.072871	0.14556	N	-1.32045032849468	0.03442	0.1537419	-1.44176183161681	0.02845	0.1316572	1.19772475481673E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.326000	0.08008	-1.290000	0.05802	0.086000	0.17587	0.000000	0.06391	0.007000	0.19602	0.022000	0.11911	1.0E-4:0.0:0.6463:0.3536	4.708	0.12239	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.225	36608.93	193	chr3	195779399	.	GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	G,CACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	36608.93	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.51;DP=4301;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=57.38;MQRankSum=-7.921e+00;QD=16.79;ReadPosRankSum=0.561;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160,0:161:99:.:.:7064,457,0,7067,499,7109	13	2	4	1
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	2/2:1,0,160:161:99:.:.:7064,7067,7109,457,499,0	5	0	2	7
chr3	195779404	195779404	G	0	exonic	MUC4	.	.	.	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2388.95	193	chr3	195779404	.	G	*,C	2388.95	.	AC=7,1;AF=0.184,0.026;AN=38;BaseQRankSum=-3.053e+00;DP=4001;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=8,1;MLEAF=0.211,0.026;MQ=56.64;MQRankSum=-1.569e+01;QD=1.40;ReadPosRankSum=6.49;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160,0:161:99:.:.:7064,457,0,7067,499,7109	13	2	3	2
chr3	195779404	195779404	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12176G:p.T4059R,	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	B	0.007	B	.	.	1.000	N	0.55	N	1.17	T	-1.030	T	0.056	T	0.05	0.115	4.621	.	0.488	0.295	6.707	0.009	0.00182528942992	.	.	7.262e-05	0	0	0	0	0.0002	0	0	.	.	.	rs776979023	0.0009	0.0009	0.0007	0.0011	0.0040	0.0009	0.0009	0.0036	0.0035	0.0001	0.0001	0.0070	0	0	0.0009	0.0006	0.0016	0.0040	4.891e-05	0.0002	3.186e-05	6.678e-05	0.0001	1.298e-05	6.6e-06	3.471e-05	1.834e-05	0	0	0	0	0	0	0	0.0001	0	0	0.027	0.49613	D	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	1	0.19363	N	.	.	.	1.12	0.38718	T	-0.72	0.20358	N	0.076	0.05037	-1.0299	0.20487	T	0.056	0.23639	T	7	0.042829275	0.03071	T	0.001825	0.03141	T	0.009	0.00846	0.264	0.20946	0.0401082797425	0.02173	0.010072051980256853	0.00969	.	.	0.559079825878	0.47139	T	.	.	.	-0.273447	0.11375	T	-0.630564	0.10373	T	0.0419996122301424	0.04055	T	0.784022	0.42156	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30920	B	.;.	.;.	1.950288	0.24774	16.52	0.74889682782063816	0.10865	0.00529	0.02453	N	AEFBI	0.067654	0.13309	N	-1.1883514193745	0.05176	0.2353132	-1.30398640180941	0.04378	0.2063858	3.08878075065964E-5	0.03498	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.997000	0.29333	0.217000	0.16029	0.086000	0.17587	0.024000	0.20007	0.001000	0.17328	0.023000	0.12082	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2105	2388.95	193	chr3	195779404	.	G	*,C	2388.95	.	AC=7,1;AF=0.184,0.026;AN=38;BaseQRankSum=-3.053e+00;DP=4001;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=8,1;MLEAF=0.211,0.026;MQ=56.64;MQRankSum=-1.569e+01;QD=1.40;ReadPosRankSum=6.49;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160,0:161:99:.:.:7064,457,0,7067,499,7109	13	2	3	2
chr3	195779410	195779410	A	0	exonic	MUC4	.	.	.	.	.	5	164	3	1	53	58	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2377.19	193	chr3	195779410	.	A	*,G	2377.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=3.77;DP=4183;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.71;MQRankSum=-1.575e+01;QD=1.14;ReadPosRankSum=7.26;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160,0:161:99:.:.:7064,457,0,7067,499,7109	13	2	4	1
chr3	195779411	195779411	A	0	exonic	MUC4	.	.	.	.	.	505	777	88	120	32	360	0.174283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2371.19	193	chr3	195779411	.	A	*,C	2371.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=3.15;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.575e+01;QD=1.14;ReadPosRankSum=7.43;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160,0:161:99:.:.:7064,457,0,7067,499,7109	13	2	4	1
chr3	195779418	195779418	A	0	exonic	MUC4	.	.	.	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779418	.	A	*,AGG	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.52;DP=4182;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.581e+01;QD=1.14;ReadPosRankSum=7.93;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160,0:161:99:.:.:7064,457,0,7067,499,7109	13	2	4	1
chr3	195779418	195779418	-	GG	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.12161_12162insCC:p.S4055Lfs*205,	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.195e-05	0	0	0	0	0.0002	0	0	.	.	.	rs760455429	0.0011	0.0014	0.0008	0.0014	0.0041	0.0010	0.0010	0.0037	0.0035	0.0010	0.0002	0.0067	0.0001	6.627e-05	0.0009	0.0007	0.0018	0.0041	0.0004	0.0009	0.0004	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0005	0	0	0	0	0	0	0.0004	0.0027	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779418	.	A	*,AGG	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.52;DP=4182;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.581e+01;QD=1.14;ReadPosRankSum=7.93;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160,0:161:99:.:.:7064,457,0,7067,499,7109	13	2	4	1
chr3	195779420	195779422	CAT	0	exonic	MUC4	.	.	.	.	.	7	164	1	0	54	55	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779420	.	CAT	*,C	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.02;DP=4192;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.85;MQRankSum=-1.604e+01;QD=1.13;ReadPosRankSum=7.58;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160,0:161:99:.:.:7064,457,0,7067,499,7109	13	2	4	1
chr3	195779421	195779422	AT	-	exonic;splicing	MUC4;MUC4	NM_001322468:exon17:r.spl	frameshift deletion	MUC4:NM_018406:exon2:c.12158_12159del:p.N4053Sfs*24,	.	.	537	766	92	121	6	340	0.178992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0321	.	0.0002	0.0007	0	0	0	0.0002	0	0	.	.	.	rs749974981	0.0014	0.0014	0.0011	0.0017	0.0050	0.0013	0.0013	0.0045	0.0043	0.0013	0.0003	0.0108	0.0002	9.483e-05	0.0012	0.0009	0.0024	0.0050	0.0008	0.0015	0.0008	0.0007	0.0011	0.0005	0.0004	0.0006	0.0004	0.0011	0	0	0	0	0	0	0.0009	0.0049	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779420	.	CAT	*,C	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.02;DP=4192;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.85;MQRankSum=-1.604e+01;QD=1.13;ReadPosRankSum=7.58;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160,0:161:99:.:.:7064,457,0,7067,499,7109	13	2	4	1
chr3	195779431	195779431	G	0	exonic	MUC4	.	.	.	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.19	193	chr3	195779431	.	G	*,T	2367.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=-4.960e-01;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.82;MQRankSum=-1.595e+01;QD=1.14;ReadPosRankSum=6.18;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160,0:161:99:.:.:7064,457,0,7067,499,7109	13	2	4	1
chr3	195779431	195779431	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12149A:p.P4050H	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	B	0.018	B	.	.	1.000	N	0.55	N	1.36	T	-1.020	T	0.047	T	0.061	0.033	4.183	.	0.488	-2.428	6.707	0.007	0.00258057017812	.	.	0.0021	0.0021	0	0	0	0.0008	0	0.0039	0.0001537	4	26028	rs1480550642	0.0014	0.0013	0.0011	0.0018	0.0074	0.0014	0.0013	0.0059	0.0057	0.0014	0.0005	0.0098	0	3.45e-05	0.0074	0.0008	0.0021	0.0064	0.0011	0.0013	0.0013	0.0009	0.0051	0.0009	0.0008	0.0029	0.0022	0.0012	0	0.0006	0.0039	0	0	0	0.0011	0	0.0051	0.012	0.54683	D	0.122	0.35970	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	1.31	0.35405	T	0.9	0.01787	N	0.056	0.02759	-1.0196	0.23845	T	0.047	0.20235	T	7	0.0064422786	0.00146	T	0.002581	0.05206	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.004172141456176176	0.00391	.	.	0.549387454987	0.45772	T	.	.	.	-0.287244	0.09915	T	-0.650382	0.08927	T	0.00760233881679783	0.00088	T	0.528347	0.17454	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.33732	B	.;.	.;.	2.089554	0.26580	17.17	0.83398739857595916	0.14704	0.00137	0.00841	N	AEFI	0.045525	0.07454	N	-1.25857930923118	0.04188	0.1885301	-1.38017546312345	0.03463	0.1616229	3.49615975115454E-5	0.03775	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.111000	0.10778	0.000000	0.13247	0.086000	0.17587	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.19	193	chr3	195779431	.	G	*,T	2367.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=-4.960e-01;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.82;MQRankSum=-1.595e+01;QD=1.14;ReadPosRankSum=6.18;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160,0:161:99:.:.:7064,457,0,7067,499,7109	13	2	4	1
chr3	195779444	195779444	T	0	exonic	MUC4	.	.	.	.	.	6	161	4	0	55	59	0.0122699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	7517.42	193	chr3	195779444	.	T	*,C	7517.42	.	AC=8,2;AF=0.200,0.050;AN=40;BaseQRankSum=2.08;DP=4116;ExcessHet=0.0120;FS=0.515;InbreedingCoeff=0.4558;MLEAC=8,2;MLEAF=0.200,0.050;MQ=56.17;MQRankSum=-1.262e+01;QD=3.54;ReadPosRankSum=3.57;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160,0:161:99:.:.:7064,457,0,7067,499,7109	13	2	3	1
chr3	195779444	195779444	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12136G:p.T4046A	.	.	504	767	103	128	20	379	0.189646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	B	0.039	B	0.380	N	1.000	N	0.55	N	1.64	T	-1.044	T	0.031	T	0.04	0.334	5.814	0.613	0.522	0.338	3.482	0.013	.	.	0.112021	0.0077	0.0014	0.0112	0.0580	0.0013	0.0092	0	0.0064	0.0053557	828	154602	rs62282465	0.0047	0.0064	0.0042	0.0052	0.0253	0.0046	0.0045	0.0229	0.0220	0.0027	0.0042	0.0154	0.0253	0.0049	0.0090	0.0034	0.0065	0.0109	0.0014	0.0045	0.0013	0.0016	0.0029	0.0011	0.0010	0.0022	0.0020	0.0029	0	0.0012	0	0.0011	0.0009	0	0.0006	0.0020	0	0.626	0.05214	T	0.108	0.37730	T	.	.	.	.	.	.	0.380396	0.13397	N	0.326178	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.58	0.23156	N	0.034	0.01421	-1.0441	0.16089	T	0.031	0.13504	T	9	0.0028693974	0.00046	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021228600466568154	0.00196	.	.	0.553730368614	0.46383	T	.	.	.	-0.697436	0.00038	T	-0.745319	0.03671	T	0.00237689495200028	0.00025	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.;.	.;.	0.837442	0.12093	8.643	0.76492952725263341	0.11490	0.00494	0.02336	N	AEFI	0.061456	0.11751	N	-1.04182487498206	0.07748	0.3609991	-1.16911237340214	0.06431	0.3095628	1.23786745538616E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.613	0.613	0.16773	-0.356000	0.07711	-0.898000	0.07002	0.085000	0.17582	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	1.0E-4:0.0:0.427:0.5729	3.482	0.07171	601	0.67921	.;.	.	.	.	.	.	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	0.225	7517.42	193	chr3	195779444	.	T	*,C	7517.42	.	AC=8,2;AF=0.200,0.050;AN=40;BaseQRankSum=2.08;DP=4116;ExcessHet=0.0120;FS=0.515;InbreedingCoeff=0.4558;MLEAC=8,2;MLEAF=0.200,0.050;MQ=56.17;MQRankSum=-1.262e+01;QD=3.54;ReadPosRankSum=3.57;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160,0:161:99:.:.:7064,457,0,7067,499,7109	13	2	3	1
chr3	195779447	195779447	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	7448.07	193	chr3	195779447	.	C	G,*	7448.07	.	AC=3,8;AF=0.075,0.200;AN=40;BaseQRankSum=1.25;DP=4112;ExcessHet=0.0419;FS=0.515;InbreedingCoeff=0.3622;MLEAC=3,8;MLEAF=0.075,0.200;MQ=55.88;MQRankSum=1.93;QD=3.49;ReadPosRankSum=2.57;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:1,0,160:161:99:.:.:7064,7067,7109,457,499,0	12	0	2	1
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	2|2:2,2,153:157:99:1|1:195779842_GCTGA_*:6529,6491,6697,335,308,0:195779842	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|1:184,200,0:384:99:0|1:195780452_T_C:7216,0,7034,4838,7622,11979:195780452	6	1	7	1
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	51505.37	393	chr3	195780501	.	C	*,G	51505.37	.	AC=7,10;AF=0.233,0.333;AN=30;BaseQRankSum=-5.880e-01;DP=8384;ExcessHet=0.9330;FS=0.000;InbreedingCoeff=0.1350;MLEAC=9,13;MLEAF=0.300,0.433;MQ=54.00;MQRankSum=-3.340e-01;QD=9.32;ReadPosRankSum=-1.345e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:184,0,198:382:99:0|1:195780452_T_C:7132,4754,11895,0,7622,7040:195780452	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|1:175,177,0:352:99:0|1:195780452_T_C:6275,0,6746,3851,7265,10633:195780452	7	2	3	4
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	22106.14	349	chr3	195780514	.	G	*,A	22106.14	.	AC=7,7;AF=0.233,0.233;AN=30;BaseQRankSum=0.605;DP=8615;ExcessHet=0.3357;FS=1.883;InbreedingCoeff=0.2178;MLEAC=9,9;MLEAF=0.300,0.300;MQ=53.69;MQRankSum=2.63;QD=4.78;ReadPosRankSum=-2.700e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:163,0,264:427:99:0|1:195780452_T_C:6384,3874,10183,0,6801,6208:195780452	5	1	3	6
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|1:201,181,0:382:99:0|1:195780452_T_C:6360,0,7746,6965,8266,15231:195780452	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|1:198,181,0:379:99:0|1:195780452_T_C:6354,0,7611,6950,8132,15082:195780452	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|1:504,66,0:570:99:0|1:195781128_A_T:1134,0,20888,2652,21087,23738:195781128	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|2:507,0,48:555:99:0|1:195781128_A_T:490,2016,23218,0,21202,21058:195781128	6	0	1	2
chr3	195781148	195781154	GGCTGGT	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:507,0,48:555:99:0|1:195781128_A_T:490,2016,23218,0,21202,21058:195781128	6	0	1	2
chr3	195781150	195781150	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	17655.6	472	chr3	195781150	.	C	CAT,*	17655.6	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=6.87;DP=8110;ExcessHet=11.8493;FS=8.427;InbreedingCoeff=-0.4911;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.14;MQRankSum=-1.618e+01;QD=3.26;ReadPosRankSum=-2.268e+00;SOR=1.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:488,45,0:533:99:0|1:195781128_A_T:421,0,20269,1890,20404,22294:195781128	7	0	12	1
chr3	195781220	195781220	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	54979.33	431	chr3	195781220	.	T	C,*	54979.33	.	AC=9,1;AF=0.250,0.028;AN=36;BaseQRankSum=-1.386e+00;DP=9310;ExcessHet=0.2410;FS=0.000;InbreedingCoeff=0.1444;MLEAC=10,1;MLEAF=0.278,0.028;MQ=59.26;MQRankSum=4.32;QD=12.97;ReadPosRankSum=0.556;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:277,230,0:507:99:.:.:5542,0,8125,6377,8817,15194	10	2	5	3
chr3	195781237	195781237	G	0	exonic	MUC4	.	.	.	.	.	457	758	281	0	26	307	0.156372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	57049.74	510	chr3	195781237	.	G	GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTA,*	57049.74	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-8.550e-01;DP=9994;ExcessHet=6.1794;FS=2.732;InbreedingCoeff=-0.3292;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.80;MQRankSum=-1.148e+01;QD=9.95;ReadPosRankSum=-6.049e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/1:443,165,0:608:99:4859,0,17407,6280,17002,23463	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	0/1:397,61,0:463:99:.:.:937,0,21871,2560,20042,24118	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	0/2:397,0,61:463:99:.:.:937,2560,24118,0,20042,21871	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	0/1:397,61,0:463:99:.:.:937,0,21871,2560,20042,24118	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	0/1:397,61,0:463:99:.:.:937,0,21871,2560,20042,24118	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	0/2:397,0,61:463:99:.:.:937,2560,24118,0,20042,21871	5	0	1	6
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13584.69	556	chr3	195781583	.	T	*,TGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC,TC	13584.69	.	AC=8,2,1;AF=0.267,0.067,0.033;AN=30;BaseQRankSum=5.10;DP=9593;ExcessHet=2.8258;FS=8.879;InbreedingCoeff=-0.2455;MLEAC=10,2,1;MLEAF=0.333,0.067,0.033;MQ=56.45;MQRankSum=-1.210e-01;QD=3.10;ReadPosRankSum=-1.456e+00;SOR=1.309	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:397,61,0,0:463:99:.:.:937,0,21871,2560,20042,24118,2560,20042,24118,24118	5	0	7	6
chr3	195781591	195781591	T	0	exonic	MUC4	.	.	.	.	.	449	750	25	2	296	325	0.0189666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3997.07	404	chr3	195781591	.	T	*,G,A	3997.07	.	AC=10,2,1;AF=0.294,0.059,0.029;AN=34;BaseQRankSum=2.81;DP=8640;ExcessHet=5.0857;FS=10.247;InbreedingCoeff=-0.3523;MLEAC=11,2,1;MLEAF=0.324,0.059,0.029;MQ=55.21;MQRankSum=-4.300e+00;QD=0.78;ReadPosRankSum=-4.302e+00;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:389,61,31,0:481:99:0|1:195781522_A_G:1348,0,16147,1251,15047,17721,2543,16345,17707,18981:195781522	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|1:392,61,19:472:99:0|1:195781522_A_G:1339,0,16191,1747,15441,18174:195781522	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|1:392,61,19:472:99:0|1:195781522_A_G:1339,0,16191,1747,15441,18174:195781522	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|2:290,61,135:486:99:0|1:195781618_GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_*:4689,2939,16396,0,9071,10987:195781618	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|1:218,202,9:429:99:0|1:195781522_A_G:7437,0,8249,7820,8538,18209:195781522	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	1|2:0,235,202:437:99:1|0:195781618_GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_*:15021,8100,7357,7197,0,9014:195781618	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|2:167,0,126:293:99:0|1:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:2856,3351,10063,0,6712,6420:195781775	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|2:167,0,126:293:99:0|1:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:2856,3351,10063,0,6712,6420:195781775	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|2:167,0,126:293:99:0|1:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:2856,3351,10063,0,6712,6420:195781775	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|2:167,0,126:293:99:0|1:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:2856,3351,10063,0,6712,6420:195781775	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|2:167,0,126:293:99:0|1:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:2856,3351,10063,0,6712,6420:195781775	6	0	1	1
chr3	195781996	195781996	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9584T:p.T3195I,	.	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	B	0.003	B	.	.	1.000	N	0.55	N	1.18	T	-1.015	T	0.044	T	0.072	0.165	4.886	0.743	0.088	0.510	3.255	0.012	0.000680715796675	.	0.000199681	0.0029	0	0	0	0	0.0003	0	0.0064	1.29e-05	2	154602	rs553359649	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0.0002	0	0	0	0.0015	6.178e-05	0.0002	0.0027	5.911e-05	0.0001	8.658e-05	3.029e-05	0.0002	2.938e-05	2.133e-05	4.1e-05	2.731e-05	2.976e-05	0	0	0	0	0	0	9.485e-05	0	0.0002	0.032	0.63226	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.16	0.38073	T	-1.42	0.34992	N	0.087	0.06454	-1.0154	0.25207	T	0.044	0.18989	T	8	0.0055933893	0.00124	T	6.81E-4	0.00400	T	0.012	0.01476	.	.	0.0138822411134	0.00435	7.689607933966678E-4	0.00070	.	.	0.521981835365	0.41905	T	.	.	.	-0.307992	0.07926	T	-0.680186	0.06972	T	0.0172104104395593	0.00464	T	0.851115	0.53499	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.62898	A	.;.	.;.	1.295274	0.16964	12.88	0.78818462309405501	0.12466	0.00247	0.01365	N	AEFI	0.047472	0.07999	N	-1.19717036555302	0.05043	0.2289773	-1.28932571266452	0.04573	0.2160548	1.23697505538687E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	0.260000	0.18192	-0.467000	0.09002	-1.176000	0.01393	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.3579:0.0:0.6421:0.0	3.255	0.06425	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	0.025	2565.33	106	chr3	195781996	.	G	A	2565.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.469e+00;DP=3183;ExcessHet=0.0000;FS=10.588;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=38.18;MQRankSum=2.47;QD=8.85;ReadPosRankSum=-7.200e-01;SOR=1.260	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,102:290:99:1|0:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:2579,0,6008:195781775	19	0	1	1
chr3	195782411	195782411	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9169G:p.L3057V,	.	.	433	1031	56	0	2	58	0.02644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	P	0.092	B	.	.	1.000	N	0.55	N	1.51	T	-1.038	T	0.029	T	0.096	0.106	4.572	.	-0.414	-0.389	3.379	0.010	0.0018974840316	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158136848	0.0004	0.0010	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	7.625e-05	0.0004	0.0015	3.796e-05	0.0015	0	0.0004	0.0006	0	0.0016	0.0052	0.0017	0.0014	0.0022	0.0014	0.0013	0.0019	0.0018	0.0006	0.0086	0.0011	0.0031	0	0.0015	0	0.0022	0.0005	0.0004	0.371	0.22660	T	0.666	0.06427	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.51	0.32482	T	-0.02	0.07299	N	0.043	0.01577	-1.0380	0.17924	T	0.029	0.12278	T	7	0.009854794	0.00221	T	0.001897	0.03351	T	0.010	0.01040	.	.	0.0297737177859	0.01360	1.492367004788712E-4	0.00012	.	.	0.472234934568	0.34987	T	.	.	.	-0.305642	0.08138	T	-0.67681	0.07180	T	0.0302767216235338	0.02032	T	0.807619	0.45757	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28377	B	.;.	.;.	0.701192	0.10700	7.393	0.7859687701517204	0.12370	0.00224	0.01258	N	AEFBI	0.046021	0.07594	N	-1.07037780474094	0.07194	0.3334489	-1.266179450805	0.04896	0.2320322	1.15922054809651E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.360000	0.19987	-4.502000	0.02124	0.093000	0.17603	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.6539:0.0:0.3461:0.0	3.379	0.06826	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05263	174.8	408	chr3	195782411	.	G	C,*	174.8	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=2.25;DP=7351;ExcessHet=0.1190;FS=0.777;InbreedingCoeff=0.1592;MLEAC=1,1;MLEAF=0.026,0.026;MQ=57.85;MQRankSum=-8.603e+00;QD=0.20;ReadPosRankSum=-5.540e+00;SOR=0.921	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:426,38,0:464:99:0|1:195782411_G_C:188,0,17634,1470,17748,19219:195782411	17	0	1	2
chr3	195782411	195782411	G	0	exonic	MUC4	.	.	.	.	.	433	1031	56	0	2	58	0.02644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	174.8	408	chr3	195782411	.	G	C,*	174.8	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=2.25;DP=7351;ExcessHet=0.1190;FS=0.777;InbreedingCoeff=0.1592;MLEAC=1,1;MLEAF=0.026,0.026;MQ=57.85;MQRankSum=-8.603e+00;QD=0.20;ReadPosRankSum=-5.540e+00;SOR=0.921	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:426,38,0:464:99:0|1:195782411_G_C:188,0,17634,1470,17748,19219:195782411	17	0	1	2
chr3	195782416	195782416	T	0	exonic	MUC4	.	.	.	.	.	469	990	7	0	56	63	0.0035229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	132.11	477	chr3	195782416	.	T	G,*	132.11	.	AC=1,1;AF=0.071,0.071;AN=14;BaseQRankSum=2.85;DP=7833;ExcessHet=0.1259;FS=1.711;InbreedingCoeff=-0.1274;MLEAC=2,2;MLEAF=0.143,0.143;MQ=57.61;MQRankSum=-8.694e+00;QD=0.15;ReadPosRankSum=-6.190e+00;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:426,35,0:461:99:0|1:195782411_G_C:138,0,17712,1420,17818,19237:195782411	5	0	1	14
chr3	195782507	195782507	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	3617.11	473	chr3	195782507	.	G	C,*	3617.11	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=0.608;DP=8469;ExcessHet=0.1022;FS=1.731;InbreedingCoeff=0.2832;MLEAC=1,8;MLEAF=0.025,0.200;MQ=55.87;MQRankSum=-1.046e+01;QD=1.40;ReadPosRankSum=1.53;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:346,133,0:479:99:0|1:195782507_G_C:3630,0,11679,4782,10196,15583:195782507	13	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	1/2:105,208,121:434:99:.:.:6441,915,3308,2663,0,15321	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|1:310,121,0:431:99:0|1:195782557_G_*:3196,0,19335,4188,11387,15665:195782557	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	0/1:148,121,14:288:99:3268,0,15767,1222,2577,6171	5	0	3	10
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	13824.02	469	chr3	195783068	.	G	T,*	13824.02	.	AC=6,3;AF=0.214,0.107;AN=28;BaseQRankSum=1.62;DP=9197;ExcessHet=5.7770;FS=6.457;InbreedingCoeff=-0.2980;MLEAC=8,4;MLEAF=0.286,0.143;MQ=56.56;MQRankSum=-1.160e+01;QD=4.34;ReadPosRankSum=-2.209e+00;SOR=1.099	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:279,63,0:342:99:0|1:195783068_G_T:1764,0,11421,2603,11610,14214:195783068	5	0	6	7
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	14051.12	468	chr3	195783070	.	A	C,*	14051.12	.	AC=6,4;AF=0.200,0.133;AN=30;BaseQRankSum=1.87;DP=9244;ExcessHet=6.9875;FS=3.367;InbreedingCoeff=-0.3690;MLEAC=8,5;MLEAF=0.267,0.167;MQ=56.95;MQRankSum=-9.607e+00;QD=3.58;ReadPosRankSum=-2.103e+00;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,63,0:344:99:0|1:195783068_G_T:1758,0,11505,2603,11694,14298:195783068	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|1:92,218,0:310:99:0|1:195783084_A_C:8419,0,2371,8670,3027,11696:195783084	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|2:225,0,82:307:99:1|0:195783084_A_C:2082,2760,11798,0,9038,8818:195783084	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|1:38,255,0:293:99:1|0:195783068_G_T:9861,0,796,9975,1563,11538:195783068	3	2	9	5
chr3	195783861	195783861	G	0	exonic	MUC4	.	.	.	.	.	560	460	486	7	9	509	0.352113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	81944.7	385	chr3	195783861	.	G	A,*	81944.7	.	AC=12,1;AF=0.400,0.033;AN=30;BaseQRankSum=1.06;DP=8683;ExcessHet=15.1749;FS=1.128;InbreedingCoeff=-0.5646;MLEAC=15,1;MLEAF=0.500,0.033;MQ=54.05;MQRankSum=-8.970e-01;QD=13.98;ReadPosRankSum=0.513;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,208,0:384:99:0|1:195783836_T_G:8053,0,6764,8583,7390,15973:195783836	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|1:189,221,0:410:99:0|1:195783836_T_G:8621,0,7271,9190,7936,17126:195783836	4	0	12	4
chr3	195783878	195783878	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	158236.0	363	chr3	195783878	.	C	A,CGGAAGTGTCGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA,*,CGGAAGTGTTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA	158236.0	.	AC=12,7,1,1;AF=0.333,0.194,0.028,0.028;AN=36;BaseQRankSum=1.84;DP=9624;ExcessHet=8.7202;FS=1.793;InbreedingCoeff=-0.4053;MLEAC=13,7,1,1;MLEAF=0.361,0.194,0.028,0.028;MQ=55.02;MQRankSum=-2.778e+00;QD=22.89;ReadPosRankSum=-4.840e-01;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,230,0,0,0:427:99:0|1:195783836_T_G:8834,0,7580,9427,8272,17699,9427,8272,17699,17699,9427,8272,17699,17699,17699:195783836	1	1	9	3
chr3	195783891	195783891	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	105790.68	446	chr3	195783891	.	G	A,*	105790.68	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=-3.408e+00;DP=9538;ExcessHet=18.9861;FS=1.113;InbreedingCoeff=-0.6327;MLEAC=15,1;MLEAF=0.395,0.026;MQ=55.85;MQRankSum=1.36;QD=13.99;ReadPosRankSum=1.52;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:270,200,0:470:99:0|1:195783891_G_A:7343,0,10605,8156,11205,19360:195783891	4	0	14	2
chr3	195783902	195783902	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	124896.55	459	chr3	195783902	.	A	G,*	124896.55	.	AC=15,1;AF=0.417,0.028;AN=36;BaseQRankSum=-2.830e-01;DP=9618;ExcessHet=25.4433;FS=0.524;InbreedingCoeff=-0.7101;MLEAC=17,1;MLEAF=0.472,0.028;MQ=56.37;MQRankSum=0.323;QD=15.45;ReadPosRankSum=-3.430e-01;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,206,0:494:99:0|1:195783891_G_A:7660,0,11130,8526,11749,20275:195783891	2	0	15	3
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	1/1:0,1166,0:1166:99:.:.:42444,3562,0,42829,3588,45571	0	19	0	0
chr3	195785364	195785364	T	0	exonic	MUC4	.	.	.	.	.	441	974	97	0	10	107	0.0474328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	27392.49	834	chr3	195785364	.	T	C,*	27392.49	.	AC=5,1;AF=0.147,0.029;AN=34;BaseQRankSum=-9.670e-01;DP=14266;ExcessHet=1.7912;FS=2.937;InbreedingCoeff=-0.2375;MLEAC=6,1;MLEAF=0.176,0.029;MQ=57.01;MQRankSum=0.620;QD=7.11;ReadPosRankSum=-2.844e+00;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:807,168,0:975:99:0|1:195785364_T_C:4188,0,33176,6740,33722,40889:195785364	11	0	5	4
chr3	195785371	195785371	G	0	exonic	MUC4	.	.	.	.	.	5	198	22	0	1	23	0.0526316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	25396.43	834	chr3	195785371	.	G	A,*	25396.43	.	AC=7,1;AF=0.194,0.028;AN=36;BaseQRankSum=1.36;DP=14123;ExcessHet=0.5418;FS=3.054;InbreedingCoeff=-0.0202;MLEAC=7,1;MLEAF=0.194,0.028;MQ=56.87;MQRankSum=0.044;QD=6.67;ReadPosRankSum=-2.969e+00;SOR=1.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:817,156,0:973:99:0|1:195785364_T_C:3843,0,33851,6366,34296,40762:195785364	11	1	5	3
chr3	195785372	195785372	G	0	exonic	MUC4	.	.	.	.	.	529	885	99	0	9	108	0.0529695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	24926.62	834	chr3	195785372	.	G	C,*	24926.62	.	AC=5,1;AF=0.139,0.028;AN=36;BaseQRankSum=0.029;DP=14105;ExcessHet=1.7912;FS=3.806;InbreedingCoeff=-0.2213;MLEAC=6,1;MLEAF=0.167,0.028;MQ=56.89;MQRankSum=0.150;QD=6.36;ReadPosRankSum=-3.052e+00;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:813,153,133:1099:99:0|1:195785364_T_C:3768,0,33733,5675,33526,39717:195785364	12	0	5	3
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	0/1:142,797,0:939:99:.:.:25203,0,3475,26759,5981,36029	0	15	5	0
chr3	195785391	195785391	C	0	exonic	MUC4	.	.	.	.	.	459	975	85	2	1	90	0.0436488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	14855.56	802	chr3	195785391	.	C	*,G	14855.56	.	AC=1,5;AF=0.029,0.147;AN=34;BaseQRankSum=5.87;DP=13422;ExcessHet=1.8958;FS=4.251;InbreedingCoeff=-0.2308;MLEAC=1,6;MLEAF=0.029,0.176;MQ=56.41;MQRankSum=-2.403e+00;QD=4.45;ReadPosRankSum=-6.536e+00;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:789,0,95:884:99:0|1:195785364_T_C:1614,3987,34759,0,31126,32747:195785364	11	0	1	4
chr3	195786289	195786289	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C5291A:p.T1764N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	P	0.403	B	.	.	0.999	N	0.55	N	1.49	T	-1.030	T	0.048	T	0.027	0.633	7.400	.	0.088	0.669	5.868	0.096	0.00288369811063	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762639759	7.305e-07	4.13e-06	0	1.481e-06	9.443e-07	0	0	.	.	0	0	0	0	0	0	9.443e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.23631	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	0.998872	0.45601	D	.	.	.	1.43	0.32958	T	-0.17	0.09627	N	0.066	0.08786	-1.0304	0.20325	T	0.048	0.20355	T	7	0.075591594	0.11701	T	0.002884	0.06074	T	0.096	0.27654	0.098	0.01383	0.0138822411134	0.00435	1.9107310317840158E-4	0.00017	.	.	0.574587523937	0.49325	T	.	.	.	-0.350662	0.04686	T	-0.741478	0.03829	T	0.196937739849091	0.20246	T	0.864413	0.56163	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.43640	B	.;.	.;.	1.199011	0.15912	12.19	0.69880203458573376	0.09114	0.04616	0.10276	N	AEFDBCI	0.082889	0.16788	N	-0.924947611451403	0.10260	0.4894898	-1.13182017946414	0.07099	0.3440407	6.09737466362473E-4	0.07437	0.569682	0.32691	0	0.446627	0.06534	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	.	.	.	1.860000	0.39068	-0.632000	0.08120	0.167000	0.17740	0.010000	0.18352	0.000000	0.08366	0.008000	0.08271	8.0E-4:0.0:0.9992:0.0	5.868	0.18034	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	6355.74	562	chr3	195786289	.	G	T	6355.74	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.195e+00;DP=11242;ExcessHet=0.0000;FS=3.501;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.026;MQ=59.86;MQRankSum=1.81;QD=8.84;ReadPosRankSum=0.666;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:512,207:719:99:1|0:195786231_A_G:6369,0,18753:195786231	18	0	1	2
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|1:8,6,3:17:99:0|1:195787238_C_*:228,0,315,126,205,447:195787238	4	2	10	2
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2873.59	19	chr3	195787273	.	T	*,C	2873.59	.	AC=4,15;AF=0.100,0.375;AN=40;BaseQRankSum=-3.190e-01;DP=324;ExcessHet=0.7352;FS=61.659;InbreedingCoeff=-0.0399;MLEAC=5,17;MLEAF=0.125,0.425;MQ=37.78;MQRankSum=1.27;QD=11.54;ReadPosRankSum=-6.730e-01;SOR=0.049	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,3,8:12:84:0|1:195787238_C_*:393,277,327,84,0,102:195787238	6	0	1	1
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	1237.73	147	chr3	195787579	.	G	A,*	1237.73	.	AC=2,13;AF=0.071,0.464;AN=28;DP=1766;ExcessHet=0.0393;FS=10.568;InbreedingCoeff=0.2243;MLEAC=3,17;MLEAF=0.107,0.607;MQ=51.08;QD=1.06;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,46:46:99:1|1:195787508_T_C:2071,2071,2071,139,139,0:195787508	4	1	0	7
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	923.51	147	chr3	195787584	.	A	G,*	923.51	.	AC=2,13;AF=0.077,0.500;AN=26;DP=1759;ExcessHet=0.0610;FS=9.265;InbreedingCoeff=0.2100;MLEAC=3,18;MLEAF=0.115,0.692;MQ=48.44;QD=0.79;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,46:46:99:1|1:195787508_T_C:2071,2071,2071,139,139,0:195787508	3	1	0	8
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,46:46:99:1|1:195787508_T_C:2071,2071,2071,139,139,0:195787508	5	1	0	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,46:46:99:1|1:195787508_T_C:2071,2071,2071,139,139,0:195787508	5	1	0	6
chr3	195787651	195787651	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3929T:p.A1310V	.	.	677	844	1	0	0	1	0.000592066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.0	B	.	.	1.000	N	0.55	N	1.59	T	-1.002	T	0.036	T	0.084	0.551	6.979	-0.624	-0.514	-0.243	3.746	0.007	0.000987050074551	.	.	.	.	.	.	.	.	.	.	0.0016521	43	26028	rs369467782	3.43e-05	0.0002	2.508e-05	4.323e-05	0.0004	2.353e-05	1.989e-05	0.0001	8.902e-05	0	3.514e-05	0	0	3.206e-05	0.0004	1.547e-05	6.183e-05	0.0002	0	1.069e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.473	0.08408	T	0.037	0.52060	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.59	0.29085	T	-0.13	0.08971	N	0.143	0.14338	-1.0020	0.29342	T	0.036	0.15596	T	8	0.006201923	0.00140	T	9.87E-4	0.01050	T	0.007	0.00512	0.187	0.09646	0.0138822411134	0.00435	2.6768136789778523E-4	0.00023	.	.	0.474425941706	0.35290	T	.	.	.	-0.352028	0.04601	T	-0.74344	0.03747	T	0.00168162824946241	0.00017	T	0.69993	0.30971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21163	B	.;.	.;.	0.290615	0.06670	3.171	0.96924675166215379	0.31632	0.00200	0.01150	N	AEFI	0.041652	0.06360	N	-1.3137078862287	0.03517	0.1572585	-1.43402867846011	0.02918	0.1351418	1.26513995383553E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.312	-0.624	0.10972	-0.350000	0.07769	-7.353000	0.01175	0.177000	0.17786	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.661:0.0:0.339:0.0	3.746	0.08074	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.0625	73.23	45	chr3	195787651	.	G	A	73.23	.	AC=2;AF=0.063;AN=32;DP=463;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5482;MLEAC=1;MLEAF=0.031;MQ=36.67;QD=28.12;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:195787508_T_C:90,6,0:195787508	15	1	0	5
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del	.	.	845	542	82	39	14	174	0.128617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	8.86e-05	0.0001	0.0002	8.685e-05	7.777e-05	7.503e-05	6.47e-05	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0001	0.0002	2.234e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	3048.65	24	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T,AGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	3048.65	.	AC=2,12;AF=0.059,0.353;AN=34;BaseQRankSum=1.44;DP=324;ExcessHet=0.6984;FS=37.858;InbreedingCoeff=0.0268;MLEAC=2,14;MLEAF=0.059,0.412;MQ=36.04;MQRankSum=0.122;QD=17.13;ReadPosRankSum=0.506;SOR=4.512	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:7,0,6:13:99:0|1:195787857_T_A:231,252,546,0,294,276:195787857	6	0	1	4
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	2681.94	24	chr3	195787862	.	C	A,*	2681.94	.	AC=13,2;AF=0.433,0.067;AN=30;BaseQRankSum=-2.400e-01;DP=304;ExcessHet=0.3122;FS=39.025;InbreedingCoeff=0.0321;MLEAC=16,3;MLEAF=0.533,0.100;MQ=35.60;MQRankSum=-7.000e-02;QD=16.16;ReadPosRankSum=0.623;SOR=4.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,6,0:15:99:0|1:195787857_T_A:225,0,350,252,368,619:195787857	4	3	6	6
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4090.56	24	chr3	195787897	.	T	*,C	4090.56	.	AC=2,16;AF=0.059,0.471;AN=34;BaseQRankSum=-3.270e-01;DP=455;ExcessHet=0.3330;FS=31.908;InbreedingCoeff=0.0493;MLEAC=2,18;MLEAF=0.059,0.529;MQ=36.91;MQRankSum=-3.460e-01;QD=16.17;ReadPosRankSum=0.153;SOR=4.157	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:16,0,8:24:99:0|1:195787857_T_A:264,312,938,0,626,602:195787857	4	0	1	4
chr3	196472505	196472505	C	T	exonic	RNF168	.	nonsynonymous SNV	RNF168:NM_152617:exon6:c.G1030A:p.A344T,	RIDDLE syndrome, Autosomal recessive	.	0	1509	13	0	0	13	0.00428901	.	.	1154427	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.024	B	0.008	B	0.542	N	1.000	N	2.3	M	2.93	T	-1.011	T	0.022	T	0.112	2.265	13.53	0.563	-0.075	-0.329	4.917	0.029	.	7.7e-05	0.0201677	0.0101	0.0003	0.0007	0.0102	0	0	0.0066	0.0681	0.0089197	1379	154602	rs143837151	0.0044	0.0044	0.0026	0.0063	0.0657	0.0043	0.0043	0.0642	0.0637	0.0002	0.0001	0	0.0095	0	0.0023	5.126e-05	0.0051	0.0657	0.0028	0.0028	0.0016	0.0040	0.0704	0.0025	0.0024	0.0642	0.0618	0.0002	0	0.0001	0	0.0123	0	0	5.881e-05	0.0009	0.0704	0.09	0.31987	T	0.17	0.30436	T	0.024	0.19075	B	0.008	0.13708	B	0.542405	0.11522	N	0.782596	1	0.08975	N	1.585	0.39878	L	2.93	0.09822	T	-0.55	0.16799	N	0.08	0.05542	-1.0109	0.26635	T	0.022	0.09421	T	10	0.0034058094	0.00060	T	.	.	.	0.029	0.06676	.	.	.	.	0.10308734749577732	0.10238	0.067048045344	0.07489	0.19515812397	0.00330	T	0.001958	0.01365	T	-0.675578	0.00051	T	-0.692146	0.06266	T	0.00279983423963199	0.00029	T	0.542646	0.18460	T	0.02367948	0.01129	0.033994835	0.02388	0.02367948	0.01129	0.033994835	0.02388	-3.536	0.16940	T	.	.	0.075	0.05579	B	.	.	0.236985	0.06174	2.625	0.97013527114413256	0.31993	0.06090	0.12064	N	AEFDGBI	0.035513	0.04585	N	-0.776778590308673	0.13917	0.6891587	-0.862733429440971	0.12982	0.6709204	0.00192574776603112	0.09011	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	0.563	0.16481	-0.283000	0.08467	-0.412000	0.09340	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.1392:0.5775:0.0:0.2833	4.917	0.13205	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2337.98	35	chr3	196472505	.	C	T	2337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.060e+00;DP=990;ExcessHet=0.0000;FS=1.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-1.770e-01;SOR=0.587	GT:AD:DP:GQ:PL	0/1:96,88:184:99:2352,0,2702	20	0	1	0
chr3	196508236	196508236	A	G	exonic	SMCO1	.	nonsynonymous SNV	SMCO1:NM_001077657:exon3:c.T296C:p.V99A	.	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	0.985	N	1.04	L	1.06	T	-1.002	T	0.034	T	0.099	1.077	9.398	-1.7	0.319	-0.465	0.916	0.116	.	.	0.0247604	0.0137	0.0002	0.0008	0.0102	0	1.498e-05	0.0078	0.0934	0.011908	1841	154602	rs118152136	0.0060	0.0060	0.0035	0.0085	0.0912	0.0059	0.0059	0.0895	0.0888	0.0003	0.0002	0	0.0096	0	0.0024	6.835e-05	0.0071	0.0912	0.0036	0.0035	0.0019	0.0053	0.0949	0.0033	0.0032	0.0878	0.0849	0.0002	0	0.0001	0	0.0124	0	0	5.88e-05	0.0014	0.0949	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.98502	0.24748	N	1.95	0.52479	M	1.06	0.39781	T	0.67	0.02263	N	0.019	0.00279	-1.0016	0.29459	T	0.034	0.14813	T	9	0.0012427568	0.00014	T	.	.	.	0.116	0.32463	.	.	.	.	0.047299551094572775	0.04672	0.269601559135	0.29478	.	.	.	0.00203	0.01442	T	-0.669071	0.00056	T	-0.66267	0.08086	T	0.00748855217213379	0.00087	T	0.387861	0.09571	T	0.028127715	0.02105	0.058714386	0.10896	0.028127715	0.02104	0.058714386	0.10895	-3.203	0.12517	T	.	.	0.139	0.30450	B	.	.	0.060417	0.04716	1.350	0.86693008397666127	0.16708	0.03899	0.09275	N	AEFDBIJ	0.046932	0.07849	N	-0.860176934644316	0.11800	0.5714887	-0.776231268759997	0.15079	0.7912207	0.999957956758676	0.48110	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	-1.7	0.07721	-0.470000	0.06717	0.153000	0.15315	-0.045000	0.17359	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.2974:0.3144:0.2361:0.1521	0.916	0.01223	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1833.98	36	chr3	196508236	.	A	G	1833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=856;ExcessHet=0.0000;FS=4.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.486;SOR=1.051	GT:AD:DP:GQ:PL	0/1:79,71:150:99:1848,0,2050	20	0	1	0
chr3	197839362	197839362	A	C	exonic	LRCH3	.	nonsynonymous SNV	LRCH3:NM_001363887:exon10:c.A1293C:p.K431N	.	.	434	1076	11	1	0	13	0.00600462	.	.	3190643	LRCH3-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.26	T	0.921	P	0.675	P	0.000	D	0.950	N	0.895	L	2.31	T	-0.967	T	0.132	T	0.261	3.431	17.60	5.74	2.323	3.668	10.523	0.059	0.0153412023487	0.0020	0.000798722	0.0015	0.0005	0.0013	0	0.0006	0.0023	0.0044	0.0001	0.0015071	233	154602	rs148665137	0.0015	0.0015	0.0014	0.0015	0.0119	0.0014	0.0014	0.0096	0.0088	0.0005	0.0018	0.0003	0	0.0004	0.0119	0.0016	0.0018	0.0002	0.0016	0.0016	0.0015	0.0016	0.0029	0.0014	0.0013	0.0023	0.0020	0.0005	0	0.0029	0	0	0.0003	0.0204	0.0023	0.0043	0.0004	0.018	0.52492	D	0.118	0.47581	T	0.835	0.49920	P	0.466	0.53279	P	0.000015	0.62929	D	0.138084	0.965625	0.26534	N	1.15	0.29295	L	2.06	0.31987	T	-1.72	0.41428	N	0.241	0.31478	-0.9672	0.37774	T	0.132	0.44307	T	10	0.0074974895	0.00170	T	0.015341	0.36015	T	0.059	0.16972	0.324	0.30549	0.381409048467	0.37754	0.2559485291612534	0.25508	0.291397255534	0.31546	0.526741325855	0.42575	T	0.026482	0.19590	T	-0.458273	0.01008	T	-0.436602	0.29188	T	0.0257361292577392	0.01370	T	0.957604	0.84033	D	0.21015398	0.43303	0.19592808	0.43296	0.21015398	0.43303	0.19592808	0.43295	-3.433	0.16445	T	.	.	0.395	0.63267	A	.;.;.;.;.;.	.;.;.;.;.;.	3.406218	0.47225	22.4	0.99806354933162489	0.89085	0.95075	0.63346	D	AEFBI	0.339824	0.43684	N	0.237764321041102	0.53037	3.474513	0.358728232761598	0.59036	4.078101	0.994467855849204	0.33649	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	3.654000	0.54193	7.872000	0.72015	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8866:0.0:0.1134:0.0	10.523	0.44117	856	0.34373	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1389.98	34	chr3	197839362	.	A	C	1389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.460e-01;DP=789;ExcessHet=0.0000;FS=2.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.200;SOR=0.472	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1404,0,980	20	0	1	0
chr4	272166	272166	T	C	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon4:c.A691G:p.I231V,	.	.	419	1096	5	2	0	9	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.016	B	0.015	B	.	.	1.000	N	-0.915	N	2.34	T	-0.981	T	0.013	T	0.06	-0.351	2.339	-0.308	0.339	-0.973	3.942	0.072	0.000764672128026	0.0015	0.000998403	0.0016	0.0002	0.0013	0	0	0.0021	0.0012	0.0023	0.0014489	224	154602	rs144919218	0.0020	0.0020	0.0020	0.0021	0.0024	0.0020	0.0020	0.0022	0.0022	0.0002	0.0012	0.0017	2.523e-05	0.0001	0.0024	0.0023	0.0022	0.0021	0.0013	0.0013	0.0015	0.0011	0.0023	0.0011	0.0011	0.0020	0.0019	0.0003	0	0.0007	0.0009	0	9.464e-05	0	0.0023	0.0014	0.0019	0.222	0.18823	T	0.123	0.35582	T	0.016	0.17332	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	-0.335	0.03518	N	2.34	0.16351	T	0.61	0.02480	N	0.051	0.02272	-0.9812	0.34724	T	0.013	0.05273	T	9	0.012317002	0.00265	T	7.65E-4	0.00549	T	0.072	0.21020	.	.	0.0138822411134	0.00435	0.00204553568814534	0.00189	0.018289461423	0.01786	0.287587076426	0.08571	T	0.001919	0.01337	T	-0.724101	0.00026	T	-0.819373	0.01465	T	0.00118991917286493	0.00012	T	0.131687	0.01039	T	0.024258869	0.01240	0.04367557	0.05487	0.024258869	0.01240	0.04367557	0.05487	-2.575	0.06315	T	.	.	0.076	0.05979	B	.;.	.;.	-0.468614	0.01970	0.171	0.76111669369923041	0.11337	0.00669	0.02886	N	AEFGBCI	0.032875	0.03794	N	-1.28412719342455	0.03866	0.1734751	-1.32394777230922	0.04123	0.1937903	0.00193757712823218	0.09019	0.460665	0.09802	0	0.573888	0.26702	0	0.575934	0.27490	0	0.613276	0.41899	0	.	.	0.946	-0.308	0.12139	-2.502000	0.01042	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2852:0.0:0.7148	3.942	0.08827	958	0.09170	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	952.98	43	chr4	272166	.	T	C	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.660e-01;DP=863;ExcessHet=0.0000;FS=2.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-1.160e+00;SOR=0.602	GT:AD:DP:GQ:PL	0/1:46,38:84:99:967,0,1201	20	0	1	0
chr4	1025268	1025268	-	CACA	exonic	FGFRL1	.	frameshift insertion	FGFRL1:NM_021923:exon6:c.1436_1437insCACA:p.S486Tfs*67	.	.	414	774	328	1	5	335	0.175719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	734.34	34	chr4	1025266	.	CCA	C,CCACACA	734.34	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-9.200e-02;DP=1325;ExcessHet=4.7172;FS=1.630;InbreedingCoeff=-0.2727;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=0.069;SOR=0.760	GT:AD:DP:GQ:PL	0/1:53,7,0:60:69:69,0,1688,229,1709,1938	12	0	8	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	2/5:0,2,12,0,0,19,0:33:99:.:.:1306,1066,1012,831,588,1023,1310,1070,835,1314,1310,1070,835,1314,1314,478,408,0,482,482,417,1310,1070,835,1314,1314,482,1314	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	2/5:0,2,12,0,0,19,0:33:99:.:.:1306,1066,1012,831,588,1023,1310,1070,835,1314,1310,1070,835,1314,1314,478,408,0,482,482,417,1310,1070,835,1314,1314,482,1314	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	2/5:0,2,12,0,0,19,0:33:99:.:.:1306,1066,1012,831,588,1023,1310,1070,835,1314,1310,1070,835,1314,1314,478,408,0,482,482,417,1310,1070,835,1314,1314,482,1314	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	2/5:0,2,12,0,0,19,0:33:99:.:.:1306,1066,1012,831,588,1023,1310,1070,835,1314,1310,1070,835,1314,1314,478,408,0,482,482,417,1310,1070,835,1314,1314,482,1314	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	2/5:0,2,12,0,0,19,0:33:99:.:.:1306,1066,1012,831,588,1023,1310,1070,835,1314,1310,1070,835,1314,1314,478,408,0,482,482,417,1310,1070,835,1314,1314,482,1314	3	1	1	0
chr4	6112788	6112788	C	T	exonic	JAKMIP1	.	nonsynonymous SNV	JAKMIP1:NM_001099433:exon2:c.G63A:p.M21I	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.003	B	0.004	B	0.001	D	0.879	N	0	N	1.58	T	-1.053	T	0.037	T	0.262	2.145	13.13	3.94	2.041	0.570	9.264	0.039	0.00779733033995	.	.	0.0002	0	0	0	0	1.5e-05	0.0011	0.0014	0.0001617	25	154602	rs771507170	8.62e-05	8.687e-05	2.995e-05	0.0001	0.0013	7.354e-05	6.903e-05	0.0011	0.0011	0	0	0	0	0	0.0003	6.295e-06	4.968e-05	0.0013	6.564e-05	6.561e-05	1.284e-05	0.0001	0.0019	3.513e-05	2.614e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0.0005	0.0019	0.026	0.46910	D	0.015	0.61642	D	0.001	0.11197	B	0.001	0.10090	B	0.000751	0.42006	D	0.160941	0.879297	0.28077	N	0	0.06538	N	1.58	0.29085	T	-0.69	0.19720	N	0.239	0.28732	-1.0533	0.13493	T	0.037	0.15943	T	10	0.015848577	0.00333	T	0.007797	0.20694	T	0.039	0.10176	0.17	0.07536	0.292942362817	0.28906	0.12401586335035553	0.12327	0.730299924381	0.62702	0.513253033161	0.40678	T	0.055062	0.29901	T	-0.487104	0.00674	T	-0.518019	0.20495	T	0.0641444451767835	0.07803	T	0.967503	0.88224	D	0.14706887	0.33638	0.16117856	0.37504	0.20515357	0.42648	0.15562008	0.36470	-3.508	0.16543	T	0.097980507310446	0.06955	0.145	0.43935	B	.;.;.;.;.	.;.;.;.;.	2.924542	0.38838	20.8	0.9912410665730812	0.53063	0.61249	0.31430	D	AEFDBI	0.174034	0.30114	N	-0.33471367790272	0.27837	1.530558	-0.154643630471496	0.33230	1.898689	0.991355568499298	0.32460	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.94	3.94	0.44807	0.637000	0.24348	2.517000	0.33102	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.942000	0.48361	0.3481:0.6518:0.0:0.0	9.264	0.36792	994	0.00715	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1649.98	39	chr4	6112788	.	C	T	1649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=907;ExcessHet=0.0000;FS=0.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.703;SOR=0.602	GT:AD:DP:GQ:PL	0/1:72,68:140:99:1664,0,1659	20	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.01	B	0.003	N	0.997	D	1.87	L	.	.	-0.870	T	0.178	T	0.274	3.086	16.31	1.7	0.426	3.325	6.857	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7325.55	151	chr4	6862306	.	T	C	7325.55	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.348e+00;DP=3019;ExcessHet=54.0936;FS=242.021;InbreedingCoeff=-0.9914;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.50;ReadPosRankSum=0.996;SOR=13.535	GT:AD:DP:GQ:PL	0/1:102,49:151:99:484,0,2264	0	0	21	0
chr4	7061167	7061167	C	T	exonic	GRPEL1	.	nonsynonymous SNV	GRPEL1:NM_025196:exon4:c.G349A:p.V117I,	.	.	431	1089	2	0	0	2	0.000917431	.	.	2822397	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.005	B	0.000	N	0.846	N	-0.645	N	.	.	-1.051	T	0.024	T	0.089	-0.666	1.084	3.29	0.448	3.112	8.392	0.194	0.00215472065373	0.0028	0.00219649	0.0010	0.0077	0.0003	0.0013	0	0.0004	0	6.426e-05	0.0008797	136	154602	rs146608974	0.0005	0.0005	0.0005	0.0004	0.0093	0.0004	0.0004	0.0084	0.0081	0.0093	0.0005	0.0052	0.0008	0	0.0002	7.915e-05	0.0010	0.0002	0.0024	0.0024	0.0024	0.0023	0.0079	0.0022	0.0021	0.0072	0.0069	0.0079	0	0.0006	0.0026	0.0008	0	0	8.819e-05	0.0028	0	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.005	0.11217	B	0.000002	0.62929	N	0.099846	0.845621	0.28569	N	-0.78	0.01655	N	.	.	.	0.4	0.03463	N	0.047	0.01911	-1.0507	0.14203	T	0.024	0.10419	T	9	0.011043102	0.00243	T	0.002155	0.04016	T	0.194	0.47447	.	.	0.123314135267	0.11883	0.18344846698503278	0.18263	0.183386769954	0.20629	0.313295125961	0.12405	T	0.008995	0.08221	T	-0.557441	0.00263	T	-0.567529	0.15677	T	0.000377325581395349	0.00003	T	0.714629	0.32694	T	0.02086908	0.00663	0.027620196	0.00929	0.02086908	0.00662	0.027620196	0.00928	-0.927	0.00922	T	.	.	0.078	0.06849	B	.	.	1.064295	0.14465	11.03	0.72926837353344776	0.10145	0.58623	0.30692	D	AEFGBCI	0.035441	0.04561	N	-0.771954297293717	0.14044	0.6964602	-0.570176307906574	0.20272	1.091452	0.999906993208208	0.45458	0.719381	0.83141	0	0.702456	0.74545	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.65	3.29	0.36801	3.137000	0.50257	0.668000	0.20568	-0.185000	0.09859	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:0.2269:0.0:0.7731	8.392	0.31691	872	0.31118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1993.98	33	chr4	7061167	.	C	T	1993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=834;ExcessHet=0.0000;FS=2.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-9.170e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/1:74,76:150:99:2008,0,1854	20	0	1	0
chr4	7193083	7193083	C	G	exonic	SORCS2	.	nonsynonymous SNV	SORCS2:NM_020777:exon1:c.C437G:p.T146R,	.	.	418	1099	5	0	0	5	0.00226963	.	.	2360995	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.988	D	0.781	P	.	.	1.000	D	1.245	L	1.95	T	-1.128	T	0.068	T	0.36	3.059	16.21	3.88	1.716	2.903	9.417	0.119	0.484258923036	.	0.000199681	0.0003	0	0.0007	0	0	0.0001	0	0.0012	0.0001358	21	154602	rs558449809	0.0001	0.0001	9.46e-05	0.0002	0.0009	0.0001	0.0001	0.0007	0.0007	3.354e-05	0.0003	0	0	0	0.0004	8.219e-05	0.0002	0.0009	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0001	0.0008	0.0006	4.811e-05	0	0.0012	0	0	0	0	0.0001	0.0005	0.0008	0.012	0.54683	D	0.017	0.60337	D	0.988	0.62325	D	0.781	0.57337	P	.	.	.	.	0.973567	0.39034	D	1.59	0.40313	L	1.95	0.22474	T	-1.53	0.37178	N	0.175	0.18784	-1.1283	0.01865	T	0.068	0.27845	T	9	0.06800559	0.09557	T	0.484259	0.94893	D	0.119	0.33137	.	.	0.680186721519	0.67746	0.37767319533967264	0.37682	0.432164153585	0.43397	0.918384432793	0.98198	D	0.008714	0.07985	T	-0.399525	0.02332	T	-0.432171	0.29690	T	0.496945381164551	0.32518	T	0.80032	0.44603	T	0.23133607	0.45903	0.377693	0.62863	0.23133607	0.45903	0.377693	0.62863	-14.21	0.93718	D	.	.	0.590	0.68470	P	.	.	4.134838	0.61910	24.4	0.98771779273222993	0.45986	0.74224	0.36307	D	AEFDBCI	0.299431	0.40849	N	0.292352461185745	0.55761	3.740162	0.259828042500006	0.53211	3.491134	0.999999995935469	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.88	3.88	0.43959	2.617000	0.46049	7.097000	0.57524	0.441000	0.21086	0.020000	0.19661	1.000000	0.68203	0.991000	0.66497	0.0:0.8908:0.0:0.1092	9.417	0.37693	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1253.98	34	chr4	7193083	.	C	G	1253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.470;DP=788;ExcessHet=0.0000;FS=0.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-5.430e-01;SOR=0.598	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1268,0,1022	20	0	1	0
chr4	10443571	10443571	C	T	exonic	ZNF518B	.	nonsynonymous SNV	ZNF518B:NM_001375817:exon2:c.G2758A:p.A920T	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.016	B	0.017	B	0.001	N	0.983	N	1.245	L	4.71	T	-0.946	T	0.005	T	0.183	2.794	15.30	1.15	0.132	1.403	4.863	0.053	0.0063009351165	.	0.00119808	0.0012	0	8.648e-05	0	0	0	0	0.0086	0.0009702	150	154602	rs558440989	0.0006	0.0006	0.0003	0.0008	0.0092	0.0005	0.0005	0.0087	0.0084	2.987e-05	0	0	2.519e-05	0	0.0003	1.169e-05	0.0006	0.0092	0.0002	0.0002	0.0001	0.0003	0.0073	0.0002	0.0002	0.0054	0.0047	2.407e-05	0	0	0	0	0	0	0	0	0.0073	0.001	0.78490	D	0.012	0.63918	D	0.016	0.17332	B	0.017	0.18140	B	0.001354	0.39310	N	0.177133	0.982945	0.24924	N	1.67	0.42885	L	4.71	0.01655	T	-1.0	0.26422	N	0.117	0.10626	-0.9459	0.41665	T	0.005	0.01833	T	10	0.0072772503	0.00166	T	0.006301	0.16551	T	0.053	0.14996	0.353	0.35246	0.043077524339	0.03247	0.13928643952740785	0.13851	0.0164635354854	0.01586	0.433574855328	0.29698	T	0.024311	0.18392	T	-0.529978	0.00384	T	-0.528222	0.19465	T	0.0466878070736073	0.04909	T	0.610139	0.23115	T	0.12458756	0.29228	0.11380789	0.27469	0.12458756	0.29228	0.11380789	0.27468	-2.818	0.08350	T	.	.	0.106	0.19478	B	.	.	1.884488	0.23939	16.21	0.9923633490160173	0.56405	0.80831	0.40370	D	AEFBCI	0.080062	0.16180	N	-0.482131183637459	0.22667	1.211916	-0.420606333599121	0.24394	1.335498	0.994403072892731	0.33622	0.722319	0.85440	0	0.643519	0.57511	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	6.01	1.15	0.19876	1.653000	0.36940	0.588000	0.19789	0.599000	0.40250	0.872000	0.30832	0.073000	0.22253	0.992000	0.67800	0.2544:0.5405:0.0:0.2051	4.863	0.12953	584	0.69381	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1846.98	34	chr4	10443571	.	C	T	1846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.705e+00;DP=894;ExcessHet=0.0000;FS=2.122;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=0.345;SOR=0.527	GT:AD:DP:GQ:PL	0/1:64,76:140:99:1861,0,1753	20	0	1	0
chr4	15003254	15003254	-	GCC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	.	0	191	27	1	7	36	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0111	0.0222	0.0224	0	0.0065	0.0192	0.0167	0.0002305	6	26028	rs560468327	0.0034	0.0034	0.0029	0.0038	0.0285	0.0033	0.0032	0.0269	0.0262	0.0285	0.0034	0.0094	0.0107	0.0001	0.0136	0.0013	0.0056	0.0155	0.0097	0.0097	0.0098	0.0096	0.0256	0.0093	0.0091	0.0244	0.0238	0.0256	0	0.0049	0.0095	0.0097	0	0.0140	0.0021	0.0101	0.0185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1112.05	34	chr4	15003254	.	A	AGCCGCC,AGCC	1112.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.420e-01;DP=783;ExcessHet=0.1072;FS=0.810;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=16.60;ReadPosRankSum=0.263;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,15,0:37:99:.:.:555,0,873,622,918,1540	19	0	1	0
chr4	15707565	15707565	C	T	exonic	BST1	.	nonsynonymous SNV	BST1:NM_004334:exon3:c.C370T:p.R124C,	.	.	426	1095	1	0	0	1	0.000456413	.	.	748785	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.893	P	0.000	D	1.000	N	2.445	M	2.29	T	-1.056	T	0.070	T	0.665	2.313	13.69	3.8	0.683	2.176	9.032	0.185	.	0.0002	0.00379393	0.0011	0.0002	8.637e-05	0.0121	0	4.495e-05	0	0.0012	0.0010479	162	154602	rs78449217	0.0005	0.0005	0.0004	0.0005	0.0085	0.0004	0.0004	0.0078	0.0075	5.974e-05	6.708e-05	0	0.0085	0	0	0.0001	0.0017	0.0011	0.0006	0.0006	0.0005	0.0007	0.0110	0.0005	0.0005	0.0087	0.0079	7.231e-05	0	0.0002	0	0.0110	0	0	0.0001	0.0019	0.0029	0.004	0.65419	D	0.007	0.70582	D	1.0	0.90584	D	0.893	0.63340	P	0.000100	0.51296	D	0.179398	0.999591	0.20909	N	2.67	0.78151	M	2.29	0.17113	T	-5.32	0.86222	D	0.589	0.60918	-1.0561	0.12750	T	0.070	0.28412	T	10	0.007687807	0.00175	T	.	.	.	0.185	0.45933	.	.	0.295623431141	0.29171	0.4096348298986675	0.40879	0.761930771013	0.64304	0.355303823948	0.18701	T	0.298655	0.67121	T	-0.358798	0.04198	T	-0.277777	0.47030	T	0.0880196955693085	0.10981	T	0.872413	0.58632	D	0.55357164	0.70154	0.47671518	0.69681	0.55357164	0.70155	0.47671518	0.69681	-4.16	0.26170	T	.	.	0.257	0.56449	B	.;.	.;.	3.546677	0.49836	22.8	0.99880830426995759	0.95733	0.08290	0.14238	N	ALL	0.192850	0.31999	N	0.100854153002482	0.46501	2.889625	-0.0857863271747508	0.35977	2.08796	0.999999930865036	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.53	3.8	0.42887	2.244000	0.42775	3.938000	0.40583	0.599000	0.40250	0.052000	0.21487	0.237000	0.23824	0.174000	0.21107	0.1674:0.6716:0.161:0.0	9.032	0.35429	634	0.64659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1699.98	35	chr4	15707565	.	C	T	1699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.230e-01;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=-1.326e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/1:94,75:169:99:1714,0,2330	20	0	1	0
chr4	25862787	25862789	TGC	-	exonic	SEL1L3	.	nonframeshift deletion	SEL1L3:NM_015187:exon1:c.48_50del:p.Q17del,	.	.	477	1035	9	0	1	10	0.004329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370347220	1.832e-05	0.0004	1.097e-05	2.651e-05	2.015e-05	1.171e-05	9.44e-06	1.259e-05	1.039e-05	0	0	0	0	0	0	2.015e-05	2.485e-05	0	6.712e-06	1.979e-05	1.309e-05	0	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	40.01	12	chr4	25862786	.	TTGC	T	40.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.970e-01;DP=255;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0288;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.33;ReadPosRankSum=0.646;SOR=0.693	GT:AD:DP:GQ:PL	0/1:10,2:12:54:54,0,414	20	0	1	0
chr4	26673793	26673793	A	G	exonic	TBC1D19	.	nonsynonymous SNV	TBC1D19:NM_001292054:exon8:c.A526G:p.S176G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.001	B	0.001	B	0.000	D	1.000	D	1.43	L	1.5	T	-1.097	T	0.029	T	0.236	2.564	14.53	5.1	2.056	5.570	15.189	0.090	.	0.0077	0.00798722	0.0021	0.0246	0.0003	0	0	3.173e-05	0.0012	6.595e-05	0.0019469	301	154602	rs16878555	0.0006	0.0006	0.0007	0.0005	0.0234	0.0006	0.0006	0.0220	0.0215	0.0234	0.0007	0	0	0	0.0005	1.535e-05	0.0012	6.97e-05	0.0064	0.0065	0.0067	0.0062	0.0226	0.0061	0.0060	0.0214	0.0209	0.0226	0	0.0019	0	0	0	0	2.942e-05	0.0047	0.0002	0.118	0.34982	T	0.211	0.35205	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	D	0.039134	0.999995	0.58761	D	2.045	0.56016	M	0.91	0.46028	T	-0.72	0.22944	N	0.184	0.19995	-1.0974	0.04420	T	0.029	0.12497	T	10	0.0053832233	0.00118	T	.	.	.	0.090	0.26093	.	.	0.553913597673	0.55050	0.47403113405047187	0.47322	0.269854934135	0.29508	0.493964850903	0.37989	T	0.03936	0.25161	T	-0.51212	0.00488	T	-0.489477	0.23448	T	0.0120411407257514	0.00190	T	0.835616	0.50622	T	0.21552318	0.43987	0.17673543	0.40228	0.21552318	0.43987	0.17673543	0.40227	-4.639	0.32658	T	.	.	0.219	0.54761	B	.;.;.;.	.;.;.;.	2.884514	0.38179	20.7	0.99223959344419965	0.55994	0.97786	0.77123	D	AEFBI	0.488156	0.52660	N	0.00515367208645484	0.42089	2.529473	0.172264828668429	0.48332	3.050654	0.990472750754274	0.32165	0.615465	0.37627	0	0.588015	0.36545	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.1	5.1	0.68917	5.144000	0.64675	7.978000	0.76064	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.189	0.72714	751	0.51694	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2015.11	33	chr4	26673793	.	A	G	2015.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.33;DP=849;ExcessHet=0.1072;FS=2.612;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-1.020e-01;SOR=0.506	GT:AD:DP:GQ:PL	0/1:51,40:91:99:915,0,1191	19	0	2	0
chr4	30722771	30722771	G	A	exonic	PCDH7	.	nonsynonymous SNV	PCDH7:NM_001173523:exon1:c.G1349A:p.R450Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.984	D	.	.	0.994	D	1.465	L	0.64	T	-0.595	T	0.260	T	0.61	4.378	23.1	5.48	2.569	7.876	19.349	0.284	0.0174301157975	.	.	8.366e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs745880446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	0	1.345e-05	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.026	0.55759	D	1.0	0.90584	D	0.984	0.76113	D	.	.	.	.	0.994151	0.42180	D	1.575	0.39704	L	0.64	0.52867	T	-2.39	0.54546	N	0.564	0.60664	-0.5946	0.65036	T	0.260	0.63099	T	9	0.5881454	0.66228	D	0.01743	0.39125	T	0.284	0.60219	0.483	0.56462	0.581788271231	0.57850	0.6674010942959742	0.66678	.	.	0.770366609097	0.77480	T	0.064372	0.32416	T	0.00933874	0.52935	T	-0.224362	0.52315	T	0.920169174671173	0.57921	D	0.972203	0.89922	D	0.31691182	0.54378	0.2786529	0.53827	0.31691182	0.54378	0.2786529	0.53826	-6.725	0.51999	T	.	.	0.196	0.41738	B	.;.	.;.	4.919259	0.81005	27.4	0.99914431487748112	0.98309	0.92590	0.56070	D	AEFDGBCI	0.876994	0.80134	D	0.772639158315068	0.84368	8.268638	0.782213220073283	0.88531	9.616945	0.999999999998238	0.74766	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.372554	0.06265	0	.	.	5.48	5.48	0.80675	6.775000	0.74812	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.349	0.94365	488	0.76887	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	2932.98	38	chr4	30722771	.	G	A	2932.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=979;ExcessHet=0.0000;FS=1.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-6.560e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/1:114,118:232:99:2947,0,2599	20	0	1	0
chr4	36281955	36281955	C	T	exonic	DTHD1	.	nonsynonymous SNV	DTHD1:NM_001170700:exon1:c.C197T:p.S66L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.644e-07	1.368e-06	1.499e-06	0	9.689e-07	0	0	.	.	0	0	0	0	0	0	9.689e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998829	0.21877	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13528085	0.25743	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457954	0.13172	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33412	B	.	.	2.229312	0.28453	17.80	0.75885232088475441	0.11249	0.08174	0.14135	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999969990169048	0.48965	0.053691	0.00478	0	0.060609	0.00678	0	0.063197	0.01477	0	0.057018	0.00518	0	0.722056	0.43501	5.54	3.71	0.41733	0.710000	0.25421	1.363000	0.25896	0.599000	0.40250	0.015000	0.19116	0.011000	0.20116	0.003000	0.05239	0.0:0.7823:0.1414:0.0763	9.871	0.40343	686	0.59327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	430.98	37	chr4	36281955	.	C	T	430.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.502;DP=735;ExcessHet=0.0000;FS=1.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=2.17;SOR=0.519	GT:AD:DP:GQ:PL	0/1:26,19:45:99:445,0,610	20	0	1	0
chr4	39115178	39115178	A	T	exonic	KLHL5	.	nonsynonymous SNV	KLHL5:NM_199039:exon9:c.A1738T:p.M580L	.	.	431	1089	2	0	0	2	0.000917431	.	.	2672435	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.003	B	0.016	B	0.000	D	0.529	N	0.305	N	-1.07	T	-0.782	T	0.220	T	0.384	2.695	14.97	-0.504	-0.055	0.138	11.421	0.049	0.0140531668623	0.0009	0.000199681	0.0013	0.0003	0.0009	0	0.0014	0.0019	0	0.0005	0.0012354	191	154602	rs148371989	0.0014	0.0014	0.0015	0.0014	0.0018	0.0014	0.0013	0.0015	0.0015	0.0003	0.0018	0.0015	0	0.0010	0.0010	0.0016	0.0014	0.0002	0.0014	0.0014	0.0014	0.0014	0.0041	0.0013	0.0012	0.0032	0.0030	0.0004	0	0.0041	0.0003	0	0.0009	0	0.0018	0.0019	0	0.012	0.54683	D	0.125	0.35330	T	0.001	0.11197	B	0.016	0.17743	B	0.000071	0.52346	D	0.254899	0.529093	0.31506	N	0.49	0.13296	N	-1.07	0.76948	T	-0.86	0.23372	N	0.285	0.39356	-0.7817	0.56206	T	0.220	0.58345	T	10	0.024781168	0.00694	T	0.014053	0.33902	T	0.264	0.57741	0.338	0.32816	0.680885744014	0.67817	0.09243696715219937	0.09175	0.321520750167	0.34353	0.493598252535	0.37938	T	0.202333	0.56048	T	-0.339865	0.05397	T	-0.257243	0.49099	T	0.0211525635329985	0.00817	T	0.877212	0.60417	D	0.12230421	0.28743	0.16655299	0.38472	0.12230421	0.28743	0.16655299	0.38471	-3.894	0.22212	T	.	.	0.100	0.17953	B	.;.;.;.;.	.;.;.;.;.	2.179954	0.27787	17.58	0.90757521411027398	0.20007	0.31527	0.24360	N	AEFDBI	0.200631	0.32735	N	-0.689612233884166	0.16316	0.8302106	-0.58485393658787	0.19887	1.069054	0.997569780044731	0.35763	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	6.06	-0.504	0.11398	0.289000	0.18713	2.947000	0.35694	0.756000	0.94297	0.018000	0.19461	0.963000	0.29397	1.000000	0.97212	0.541:0.0:0.459:0.0	11.421	0.49223	494	0.76445	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	774.98	61	chr4	39115178	.	A	T	774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=1062;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-3.760e-01;SOR=0.830	GT:AD:DP:GQ:PL	0/1:33,28:61:99:789,0,898	20	0	1	0
chr4	40432716	40432716	C	T	exonic	RBM47	.	nonsynonymous SNV	RBM47:NM_019027:exon4:c.G1270A:p.A424T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.999	D	0.99	D	0.107	N	1.000	D	0	N	2.05	T	-1.065	T	0.074	T	0.498	4.464	23.8	5.43	2.553	3.956	18.847	0.213	0.0403908792523	.	.	2.526e-05	0.0001	0	0.0001	0	1.536e-05	0	0	1.94e-05	3	154602	rs748134090	1.166e-05	1.232e-05	9.556e-06	1.379e-05	1.351e-05	7.1e-06	5.81e-06	8.11e-06	6.43e-06	0	0	0	0	0	0	1.351e-05	1.662e-05	1.163e-05	3.286e-05	3.282e-05	2.571e-05	4.034e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.404e-05	4.816e-05	0	0	0	0.0006	0	0	0	0	0	0.123	0.48186	T	0.31	0.25135	T	0.999	0.77913	D	0.985	0.78936	D	0.106626	0.19606	N	0.571278	0.99999	0.58761	D	1.32	0.33002	L	2.02	0.23082	T	-0.12	0.08809	N	0.482	0.57263	-1.0645	0.10666	T	0.074	0.29928	T	10	0.34846124	0.51760	T	0.040391	0.59348	D	0.213	0.50496	0.259	0.20159	0.082315109003	0.07666	0.7154601592543018	0.71489	0.844674069954	0.68227	0.532006144524	0.43317	T	0.079094	0.36047	T	-0.224262	0.17414	T	-0.377146	0.36056	T	0.29628776645464	0.24850	T	0.860614	0.55382	D	0.08241198	0.18984	0.09916821	0.23668	0.08241198	0.18984	0.09916821	0.23668	-8.328	0.63284	D	.	.	0.128	0.27702	B	.;.;.;.	.;.;.;.	2.792500	0.36715	20.3	0.9954274494061357	0.70586	0.98499	0.83426	D	AEFDBI	0.661377	0.63162	D	0.185922827236151	0.50524	3.241498	0.231537752755156	0.51606	3.341662	0.99999999997597	0.74766	0.787689	0.99735	0	0.71359	0.82159	0	0.0	0.00061	3	0.562822	0.20929	0	.	.	5.43	5.43	0.79006	4.013000	0.56850	5.381000	0.48456	0.531000	0.24825	0.998000	0.41325	0.989000	0.31174	0.026000	0.12556	0.0:1.0:0.0:0.0	18.847	0.92179	835	0.38313	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1014.98	33	chr4	40432716	.	C	T	1014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.050e+00;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=-1.398e+00;SOR=0.743	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1029,0,1539	20	0	1	0
chr4	56963503	56963503	G	A	exonic	NOA1	.	nonsynonymous SNV	NOA1:NM_032313:exon7:c.C2044T:p.P682S,	.	.	7	1495	17	3	0	23	0.00763359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.861	P	0.000	D	1.000	D	2.585	M	1.1	T	-0.540	T	0.211	T	0.246	3.875	19.69	5.41	2.681	5.124	19.159	0.163	.	0.0019	0.00379393	0.0031	0.0005	0.0025	0.0001	0.0005	0.0026	0	0.0099	0.0030918	478	154602	rs61747375	0.0037	0.0037	0.0035	0.0039	0.0093	0.0037	0.0036	0.0088	0.0086	0.0005	0.0031	0.0013	5.038e-05	0.0003	0.0023	0.0038	0.0034	0.0093	0.0024	0.0024	0.0026	0.0023	0.0085	0.0022	0.0021	0.0064	0.0057	0.0006	0.0252	0.0029	0.0009	0	0.0004	0.0034	0.0033	0.0024	0.0085	0.01	0.56456	D	0.02	0.58613	D	0.997	0.70673	D	0.861	0.61279	P	0.000132	0.49741	D	0.177605	1	0.81001	D	3.105	0.87672	M	1.1	0.39050	T	-2.96	0.61722	D	0.426	0.46555	-0.5400	0.67163	T	0.211	0.57134	T	10	0.0073290765	0.00167	T	.	.	.	0.163	0.42028	.	.	0.631970868704	0.62895	0.7423886184273022	0.74184	0.37369969626	0.38833	0.306570768356	0.11389	T	0.404834	0.76118	T	-0.408862	0.02022	T	-0.352116	0.38963	T	0.0540768489422514	0.06201	T	0.805919	0.45429	T	0.112257406	0.26521	0.17708229	0.40285	0.112257406	0.26520	0.17708229	0.40285	-5.863	0.45119	T	.	.	0.173	0.37858	B	.	.	4.088366	0.60867	24.3	0.99903686811470538	0.97502	0.97277	0.73745	D	AEFBI	0.464368	0.51289	N	0.639699020071097	0.75703	6.353225	0.56227660753155	0.72255	5.781155	0.999999997713301	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	5.607000	0.67330	8.454000	0.77227	0.664000	0.56970	1.000000	0.71638	1.000000	0.68203	0.766000	0.36367	0.0:0.0:1.0:0.0	19.159	0.93507	853	0.34956	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	841.98	36	chr4	56963503	.	G	A	841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.850e-01;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=-4.320e-01;SOR=0.606	GT:AD:DP:GQ:PL	0/1:46,39:85:99:856,0,1105	20	0	1	0
chr4	70705091	70705091	C	A	exonic	RUFY3	.	nonsynonymous SNV	RUFY3:NM_001130709:exon1:c.C155A:p.A52D,	.	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.0	B	.	.	1.000	N	.	.	2.47	T	-0.963	T	0.021	T	0.102	3.697	18.78	-0.336	0.366	-0.334	5.308	0.020	.	.	.	0.0052	0	0	0	.	0.04	0	0	0.00011	17	154602	rs770623744	0.0013	0.0012	0.0014	0.0013	0.0045	0.0013	0.0013	0.0028	0.0022	0.0001	0.0003	0.0043	0	0.0005	0.0045	0.0014	0.0014	0.0007	0.0008	0.0008	0.0009	0.0007	0.0013	0.0007	0.0007	0.0011	0.0010	0.0002	0	0.0003	0.0029	0	0.0004	0	0.0013	0.0014	0.0006	0.06	0.37326	T	0.197	0.56640	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	2.47	0.14783	T	-5.25	0.84035	D	0.1	0.08227	-0.9631	0.38586	T	0.021	0.08824	T	8	0.005218327	0.00114	T	.	.	.	0.020	0.03691	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	0.06855	0.33487	T	-0.545158	0.00312	T	-0.580485	0.14501	T	0.159272780133707	0.17818	T	0.492351	0.15167	T	.	.	.	.	.	.	.	.	-5.209	0.39033	T	.	.	0.144	0.31658	B	.;.	.;.	2.093206	0.26629	17.18	0.98873818688796178	0.47702	0.00400	0.02002	N	AEFDBHCIJ	0.040379	0.05997	N	-0.770890031319576	0.14072	0.6980951	-0.768609918459942	0.15266	0.8020189	0.999998198596944	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	2.86	-0.336	0.12030	-1.091000	0.03480	1.303000	0.25487	0.442000	0.21104	0.000000	0.06391	0.063000	0.22074	0.317000	0.24900	0.2172:0.3553:0.4275:0.0	5.308	0.15124	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	344.98	24	chr4	70705091	.	C	A	344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.491;DP=552;ExcessHet=0.0000;FS=1.289;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=-6.200e-02;SOR=0.684	GT:AD:DP:GQ:PL	0/1:22,15:37:99:359,0,533	20	0	1	0
chr4	73412006	73412006	C	T	exonic	ALB	.	nonsynonymous SNV	ALB:NM_000477:exon7:c.C724T:p.R242C,	Analbuminemia	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.952	N	1.000	N	2.48	M	-0.88	T	-0.939	T	0.153	T	0.598	2.857	15.52	1.34	0.885	-0.626	4.512	0.120	0.0510634799615	.	.	2.473e-05	0	8.675e-05	0	0	1.499e-05	0	6.056e-05	1.94e-05	3	154602	rs754953092	2.873e-05	2.873e-05	2.042e-05	3.713e-05	0.0005	2.151e-05	1.908e-05	0.0001	7.838e-05	0	6.708e-05	0	0	0	0.0005	1.709e-05	4.968e-05	0.0002	1.315e-05	1.313e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.001	0.91255	D	0.003	0.79402	D	1.0	0.90584	D	0.981	0.86255	D	0.951509	0.08284	N	0.979822	0.999989	0.18198	N	2.915	0.84231	M	-0.88	0.74689	T	-4.42	0.79659	D	0.466	0.56748	-0.9390	0.42774	T	0.153	0.48291	T	10	0.6966975	0.72188	D	0.051063	0.64505	D	0.543	0.80960	0.744	0.87570	0.89305311408	0.89199	0.6057388224713427	0.60504	0.920899058271	0.71449	0.285074472427	0.08209	T	0.432448	0.78021	T	-0.110649	0.34662	T	-0.160048	0.58349	T	0.721924600769641	0.41796	D	0.950605	0.81304	D	0.47771606	0.65761	0.39684358	0.64315	0.47771606	0.65762	0.39684358	0.64315	-10.735	0.78185	D	0.8360328783640325	0.90570	0.486	0.70803	A	.;.;.;.;.	.;.;.;.;.	3.957315	0.58015	23.9	0.99871158872341326	0.94902	0.17158	0.19715	N	AEFBHCI	0.779026	0.71135	D	-0.264167414730531	0.30543	1.703957	-0.382332727050436	0.25524	1.404163	0.999992854498552	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	6.02	1.34	0.21018	-0.238000	0.08995	0.062000	0.14145	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.924000	0.46004	0.4984:0.297:0.0:0.2046	4.512	0.11325	814	0.42100	Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, 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	1866.98	35	chr4	73412006	.	C	T	1866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.079;DP=837;ExcessHet=0.0000;FS=2.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-3.550e-01;SOR=0.501	GT:AD:DP:GQ:PL	0/1:71,77:148:99:1881,0,1779	20	0	1	0
chr4	86693648	86693648	G	A	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_006264:exon6:c.G608A:p.R203Q	.	.	0	1521	1	0	0	1	0.000328623	.	.	2683608	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.002	N	1.000	D	2.215	M	1.35	T	-0.633	T	0.243	T	0.468	5.398	34	5.55	2.617	8.127	19.507	0.354	0.120391421668	.	.	7.954e-05	0	0	0	0	8.873e-05	0	0.0001	5.17e-05	8	154602	rs567152948	7.703e-05	8.756e-05	6.904e-05	8.522e-05	0.0002	6.514e-05	6.054e-05	9.667e-05	7.654e-05	0	2.714e-05	0	0	0	0.0002	8.161e-05	8.627e-05	0.0002	5.26e-05	5.254e-05	5.142e-05	5.384e-05	0.0002	2.559e-05	1.831e-05	2.847e-05	1.858e-05	0	0	0.0001	0	0	0	0	7.351e-05	0	0.0002	0.003	0.72154	D	0.007	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.002000	0.37503	N	0.000000	0.999993	0.58761	D	2.885	0.83555	M	1.35	0.34648	T	-2.9	0.60827	D	0.609	0.66700	-0.6331	0.63439	T	0.243	0.61166	T	10	0.5519866	0.64307	D	0.120391	0.80092	D	0.354	0.67510	0.438	0.49157	0.527908583987	0.52438	0.5641292700225263	0.56339	0.272485104061	0.29758	0.58894944191	0.51346	T	0.62221	0.88174	D	0.00210623	0.51945	T	-0.234751	0.51309	T	0.853504657745361	0.50471	D	0.988801	0.96179	D	0.31853807	0.54515	0.32706577	0.58608	0.31853807	0.54515	0.32706577	0.58607	-4.237	0.28079	T	.	.	0.577	0.67932	P	.;.;.;.;.	.;.;.;.;.	4.983147	0.82561	27.8	0.99960478404196518	0.99997	0.98782	0.86783	D	AEFBI	0.874557	0.79750	D	0.857141594639473	0.89510	10.00189	0.839668652592876	0.92398	11.40369	0.999998005779922	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.55	5.55	0.83298	8.222000	0.89729	11.861000	0.98322	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.507	0.95116	778	0.48011	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1098.98	35	chr4	86693648	.	G	A	1098.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.699;DP=787;ExcessHet=0.0000;FS=5.328;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-5.080e-01;SOR=0.404	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1113,0,964	20	0	1	0
chr4	87114434	87114434	C	T	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon9:c.C494T:p.A165V	.	.	11	1499	11	1	0	13	0.0043175	.	.	734754	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.978	N	1.000	N	-0.515	N	0.03	T	-1.001	T	0.069	T	0.081	0.489	6.651	-8.4	-1.387	-0.774	8.726	0.027	0.0200897194494	0.0006	0.00219649	0.0013	0.0030	0.0004	0.0003	0	0.0009	0	0.0034	0.001009	156	154602	rs201993229	0.0007	0.0007	0.0007	0.0008	0.0031	0.0007	0.0007	0.0028	0.0027	0.0018	0.0002	0.0032	0.0002	0	0.0016	0.0005	0.0008	0.0031	0.0011	0.0011	0.0011	0.0010	0.0023	0.0009	0.0009	0.0017	0.0015	0.0020	0	0.0003	0.0043	0.0002	0	0	0.0007	0.0005	0.0023	1.0	0.24372	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.978139	0.07822	N	1.010520	1	0.08975	N	-0.59	0.02258	N	0.03	0.64086	T	0.03	0.42575	N	0.067	0.10483	-1.0012	0.29574	T	0.069	0.28147	T	10	0.0035907328	0.00065	T	0.02009	0.42610	T	0.027	0.05988	.	.	0.243398259712	0.23965	0.06372221201482546	0.06311	0.049690005848	0.05445	0.319151550531	0.13293	T	0.078648	0.35941	T	-0.606319	0.00133	T	-0.645502	0.09272	T	0.002194123681064	0.00023	T	0.40306	0.11673	T	0.017148348	0.00250	0.03160284	0.01773	0.017148348	0.00249	0.03160284	0.01772	-4.74	0.34369	T	.	.	0.059	0.00847	B	.;.;.	.;.;.	-1.090542	0.00652	0.018	0.52902382881995713	0.04836	0.06513	0.12523	N	AEFDBHCI	0.030058	0.02955	N	-1.82267421312906	0.00492	0.02117562	-1.84736744974942	0.00619	0.0275136	0.99999977705542	0.74766	0.624846	0.39970	0	0.653731	0.59785	0	0.650271	0.49498	0	0.635551	0.53088	0	.	.	5.89	-8.4	0.00843	-0.417000	0.07153	-4.616000	0.02068	-1.823000	0.00598	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0922:0.3703:0.0:0.5375	8.726	0.33630	761	0.50382	.;.;.	.	.	.	.	.	Uncertain significance	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	1033.98	33	chr4	87114434	.	C	T	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.048;DP=770;ExcessHet=0.0000;FS=0.942;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.99;ReadPosRankSum=-7.120e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/1:25,44:69:99:1048,0,499	20	0	1	0
chr4	87131833	87131833	C	T	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon15:c.C2035T:p.P679S	.	.	17	1500	4	1	0	6	0.00199601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.01	B	0.018	B	0.193	N	0.821	D	0.975	L	0.05	T	-0.995	T	0.119	T	0.119	-0.264	2.733	2.8	1.014	0.839	5.597	0.031	0.0193035631981	7.7e-05	0.000798722	0.0009	9.97e-05	0.0003	0	0	0.0006	0	0.0039	0.0006986	108	154602	rs144598701	0.0005	0.0005	0.0004	0.0006	0.0030	0.0005	0.0004	0.0026	0.0025	9.421e-05	0.0002	0.0032	0	0	0.0016	0.0003	0.0006	0.0030	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	2.407e-05	0	0.0002	0.0043	0	0	0	0.0003	0	0.0021	0.352	0.12226	T	0.699	0.05825	T	0.006	0.13644	B	0.018	0.18489	B	0.192508	0.16809	N	0.595565	0.820572	0.34770	D	0.835	0.21042	L	0.05	0.61923	T	-1.11	0.28906	N	0.092	0.09631	-0.9952	0.31245	T	0.119	0.41735	T	10	0.005586982	0.00124	T	0.019304	0.41626	T	0.031	0.07369	.	.	0.41921206133	0.41539	0.09670454187720627	0.09602	0.0501717393775	0.05505	0.377047836781	0.21837	T	0.103695	0.41259	T	-0.52469	0.00413	T	-0.528247	0.19463	T	0.0058071732486809	0.00063	T	0.759024	0.38317	T	0.01781661	0.00305	0.027865482	0.00973	0.01781661	0.00305	0.027865482	0.00973	-4.943	0.36325	T	.	.	0.076	0.05890	B	.;.;.	.;.;.	0.477986	0.08477	5.234	0.67065876134187585	0.08243	0.42523	0.26896	N	AEFDBI	0.033835	0.04085	N	-0.864244922444833	0.11701	0.5661341	-0.763781323556238	0.15385	0.8088325	0.817548039090179	0.24465	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.68	2.8	0.31881	0.382000	0.20364	0.246000	0.16368	-0.313000	0.06017	0.099000	0.22773	0.025000	0.21018	0.131000	0.19607	0.1496:0.6006:0.0:0.2498	5.597	0.16613	760	0.50470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	955.98	36	chr4	87131833	.	C	T	955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.483;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.847;SOR=0.648	GT:AD:DP:GQ:PL	0/1:41,42:83:99:970,0,910	20	0	1	0
chr4	87391031	87391031	G	C	exonic	HSD17B11	.	nonsynonymous SNV	HSD17B11:NM_016245:exon1:c.C40G:p.L14V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.702	P	0.116	B	0.002	N	1.000	N	1.285	L	-1.76	D	-0.630	T	0.347	T	0.251	0.527	6.853	5.98	2.838	1.399	11.381	0.284	0.0575445918238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.05772	T	0.541	0.11004	T	.	.	.	.	.	.	0.001551	0.38671	N	0.118405	1	0.08975	N	.	.	.	-1.97	0.85173	D	-0.23	0.10656	N	0.302	0.45426	-0.6303	0.63558	T	0.347	0.71194	T	10	0.14816457	0.28063	T	0.057545	0.67003	D	0.284	0.60219	0.46	0.52753	0.629359936291	0.62633	0.32608351256564205	0.32521	0.988129650574	0.73979	0.299627125263	0.10345	T	.	.	.	-0.0208096	0.48738	T	-0.267668	0.48054	T	0.285143670621333	0.24387	T	0.489851	0.15048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26451	B	.;.	.;.	1.933040	0.24553	16.44	0.59807352564377148	0.06311	0.82609	0.41813	D	AEFDGBCIJ	0.270598	0.38663	N	-0.281281118777013	0.29871	1.660422	-0.242358349179818	0.30036	1.68772	0.999999999896917	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.98	5.98	0.97147	1.032000	0.29786	2.944000	0.35680	0.676000	0.76740	0.022000	0.19841	0.999000	0.35428	0.184000	0.21420	0.0:0.1355:0.7243:0.1403	11.381	0.49000	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	684.98	36	chr4	87391031	.	G	C	684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=-2.710e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:37,29:66:99:699,0,997	20	0	1	0
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8813.52	57	chr4	87615398	.	T	C,*	8813.52	.	AC=13,3;AF=0.310,0.071;AN=42;BaseQRankSum=-1.140e-01;DP=1014;ExcessHet=1.5101;FS=0.523;InbreedingCoeff=-0.0096;MLEAC=13,3;MLEAF=0.310,0.071;MQ=59.94;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-8.740e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:15,28,0:43:99:682,0,324,727,407,1134	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|2:0,15,16:31:99:0|1:87615730_ATAG_A:1735,703,625,635,0,564:87615730	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|2:0,15,16:31:99:0|1:87615730_ATAG_A:1716,702,874,618,0,588:87615730	0	2	2	0
chr4	87615936	87615936	A	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	4716.91	13	chr4	87615936	.	A	G,*	4716.91	.	AC=11,7;AF=0.458,0.292;AN=24;BaseQRankSum=1.09;DP=703;ExcessHet=0.4078;FS=6.971;InbreedingCoeff=0.0517;MLEAC=16,10;MLEAF=0.667,0.417;MQ=57.27;MQRankSum=-3.640e+00;QD=9.93;ReadPosRankSum=0.431;SOR=1.090	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,16,0:16:48:1|1:87615911_A_C:720,48,0,720,48,720:87615911	0	3	4	9
chr4	87615956	87615956	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	3111.82	11	chr4	87615956	.	T	C,*	3111.82	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=1.06;DP=620;ExcessHet=2.6845;FS=12.079;InbreedingCoeff=-0.0149;MLEAC=17,9;MLEAF=0.708,0.375;MQ=57.02;MQRankSum=-4.168e+00;QD=7.06;ReadPosRankSum=-1.842e+00;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,15,0:15:41:1|1:87615911_A_C:589,41,0,589,41,589:87615911	0	3	5	9
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	3076.15	8	chr4	87615962	.	C	T,*	3076.15	.	AC=12,6;AF=0.462,0.231;AN=26;BaseQRankSum=0.443;DP=591;ExcessHet=0.7589;FS=9.385;InbreedingCoeff=0.0947;MLEAC=17,8;MLEAF=0.654,0.308;MQ=56.96;MQRankSum=-4.002e+00;QD=7.24;ReadPosRankSum=-1.720e+00;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,11,0:11:33:1|1:87615911_A_C:495,33,0,495,33,495:87615911	1	4	4	8
chr4	87615971	87615971	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	1753.25	7	chr4	87615971	.	C	T,*	1753.25	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=0.430;DP=572;ExcessHet=0.9330;FS=12.644;InbreedingCoeff=-0.0283;MLEAC=16,9;MLEAF=0.667,0.375;MQ=57.48;MQRankSum=-4.485e+00;QD=4.26;ReadPosRankSum=-1.839e+00;SOR=1.150	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,7,0:7:21:1|1:87615911_A_C:315,21,0,315,21,315:87615911	0	3	5	9
chr4	87616233	87616241	GACAGCAGC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3571_3579del:p.S1229_S1231del,	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	633	805	61	19	4	103	0.0579286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0138	.	0.0013	0.0102	0	0	0	0.0002	0	0	0.0001552	24	154602	rs779559161	0.0006	0.0005	0.0006	0.0005	0.0126	0.0005	0.0005	0.0116	0.0111	0.0126	0.0007	0.0008	0	0.0002	0.0037	0.0002	0.0016	4.211e-05	0.0035	0.0035	0.0036	0.0034	0.0109	0.0032	0.0031	0.0099	0.0096	0.0109	0	0.0011	0.0004	0	0.0004	0.0058	0.0003	0.0037	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	5326.02	10	chr4	87616232	.	TGACAGCAGC	CGACAGCAGC,T	5326.02	.	AC=7,1;AF=0.219,0.031;AN=32;BaseQRankSum=1.16;DP=1033;ExcessHet=0.0004;FS=3.054;InbreedingCoeff=0.5011;MLEAC=7,1;MLEAF=0.219,0.031;MQ=58.86;MQRankSum=0.680;QD=29.26;ReadPosRankSum=0.832;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,24,0:45:99:0|1:87616232_T_C:848,0,737,912,810,1721:87616232	11	3	1	5
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	0/1:102,55:157:99:382,0,1663	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|1:75,27:102:99:0|1:99347057_C_G:201,0,1963:99347057	4	0	16	1
chr4	99347058	99347058	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G207C:p.E69D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.83351	D	0.994	0.66517	D	0.929	0.66367	D	.	.	.	.	.	.	.	1.565	0.39561	L	.	.	.	.	.	.	0.851	0.84713	.	.	.	.	.	.	.	0.5626589	0.64875	D	.	.	.	.	.	.	.	0.427139414373	0.42328	0.8914061528926898	0.89110	.	.	0.513031244278	0.40645	T	0.026211	0.58974	T	0.22255	0.76017	D	0.0819005	0.75705	D	.	.	.	0.975102	0.94195	D	0.6913734	0.77585	0.5877092	0.76085	0.6913734	0.77587	0.5877092	0.76086	-12.015	0.84925	D	.	.	0.959	0.87947	P	.;.;.	.;.;.	2.789522	0.36664	20.3	0.99424627263076804	0.63935	0.54002	0.29509	D	AEFI	0.672285	0.63874	D	.	.	.	.	.	.	1.82240512729962E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	0.955	0.18725	0.069000	0.14419	-0.861000	0.07140	0.549000	0.26987	0.372000	0.25940	0.002000	0.18203	0.136000	0.19798	0.0:0.4777:0.0:0.5223	7.455	0.26434	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	529.85	45	chr4	99347058	.	C	G	529.85	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-4.228e+00;DP=1847;ExcessHet=0.1072;FS=137.080;InbreedingCoeff=-0.0651;MLEAC=2;MLEAF=0.050;MQ=59.97;MQRankSum=0.00;QD=2.46;ReadPosRankSum=-7.240e-01;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,27:102:99:0|1:99347057_C_G:201,0,1963:99347057	18	0	2	1
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.47	M	-0.26	T	0.412	D	0.664	D	0.981	4.876	27.9	5.42	2.704	7.410	19.578	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	1269.88	119	chr4	106925843	.	C	T	1269.88	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.410e+00;DP=2366;ExcessHet=2.5830;FS=168.069;InbreedingCoeff=-0.2387;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=1.25;ReadPosRankSum=0.981;SOR=11.937	GT:AD:DP:GQ:PL	0/1:111,56:167:99:458,0,1888	12	0	7	2
chr4	113365126	113365126	G	T	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001354278:exon19:c.G2249T:p.R750L	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	367810	Long_QT_syndrome|not_specified|ANK2-related_disorder|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN169374|.|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.344	B	0.11	B	0.011	N	1.000	N	1.445	L	-3.05	D	-0.404	T	0.579	D	0.395	2.487	14.28	3.54	0.598	2.612	5.425	0.257	0.401575544266	.	0.000399361	0.0002	0	0	0	0	8.999e-05	0	0.0010	0.0001682	26	154602	rs556640912	9.988e-05	9.987e-05	6.262e-05	0.0001	0.0008	8.646e-05	8.134e-05	0.0006	0.0006	0	2.236e-05	0	0	0	0.0007	5.126e-05	0.0002	0.0008	5.259e-05	5.252e-05	5.145e-05	5.378e-05	0.0006	2.558e-05	1.831e-05	0.0002	9.025e-05	2.41e-05	0	0	0	0	0	0.0034	4.413e-05	0	0.0006	0.067	0.45756	T	0.32	0.41573	T	0.029	0.33532	B	0.068	0.31087	B	0.011438	0.29535	N	0.238980	0.999998	0.19238	N	2.215	0.62545	M	-3.05	0.92407	D	0.99	0.65512	N	0.221	0.73285	-0.4037	0.71911	T	0.579	0.84849	D	10	0.04315573	0.03135	T	0.401576	0.93409	D	0.257	0.56827	0.371	0.38176	0.837322791105	0.83577	0.3072072113509239	0.30633	0.101454333348	0.11481	0.285079956055	0.08211	T	0.417125	0.76987	T	-0.176717	0.24226	T	-0.0872165	0.64372	T	0.0536300245162474	0.06127	T	0.890411	0.62583	D	0.083070025	0.19166	0.08085652	0.18325	0.09092116	0.21290	0.08189752	0.18649	-2.674	0.24460	T	0.4928774191658802	0.56943	0.229	0.46109	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.890472	0.38275	20.7	0.99130752144940593	0.53249	0.77416	0.38061	D	AEFBI	0.390653	0.46940	N	-0.216510003835822	0.32457	1.830594	-0.0940333591062437	0.35635	2.064092	0.418669609232242	0.20273	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.3	3.54	0.39650	2.674000	0.46532	1.378000	0.26011	0.676000	0.76740	0.994000	0.38300	0.832000	0.27222	0.984000	0.60418	0.2047:0.0:0.6375:0.1577	5.425	0.15720	626	0.65439	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	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	1227.98	33	chr4	113365126	.	G	T	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=834;ExcessHet=0.0000;FS=2.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=0.241;SOR=0.968	GT:AD:DP:GQ:PL	0/1:63,49:112:99:1242,0,1513	20	0	1	0
chr4	117084992	117084992	A	C	exonic	TRAM1L1	.	nonsynonymous SNV	TRAM1L1:NM_152402:exon1:c.T402G:p.I134M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.843	P	0.873	P	0.079	N	0.984	N	1.75	L	-2.06	D	-0.208	T	0.552	D	0.279	1.163	9.734	-6.19	-1.316	-0.772	7.006	0.385	0.0865422546552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.028	0.54934	D	0.843	0.46605	P	0.873	0.61978	P	0.078778	0.21024	N	0.526393	0.983664	0.24866	N	2.39	0.68882	M	-2.06	0.85875	D	-1.34	0.33401	N	0.312	0.35194	-0.2078	0.77471	T	0.552	0.83593	D	10	0.30985647	0.48469	T	0.086542	0.74757	D	0.385	0.70194	0.377	0.39156	0.541194085853	0.53772	0.1707560074829598	0.16995	0.599866105322	0.55088	0.345022648573	0.17186	T	0.417555	0.77017	T	-0.0399243	0.45961	T	-0.295125	0.45236	T	0.362650573253632	0.27513	T	0.787321	0.42620	T	0.13944669	0.32211	0.121666946	0.29353	0.13944669	0.32211	0.121666946	0.29353	-7.166	0.55237	T	.	.	0.084	0.09772	B	.	.	1.598618	0.20438	14.75	0.9568524711822417	0.27552	0.05261	0.11099	N	AEFDBCI	0.058693	0.11030	N	-0.964344624043748	0.09373	0.4433518	-1.25069369129323	0.05121	0.2432473	0.99999661129349	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.507148	0.09336	0	0.650387	0.60102	1	.	.	4.29	-6.19	0.01900	-0.495000	0.06524	-2.494000	0.03685	-0.651000	0.04387	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4983:0.35:0.1517:0.0	7.006	0.24014	958	0.09170	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2190.98	35	chr4	117084992	.	A	C	2190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.100e-02;DP=868;ExcessHet=0.0000;FS=2.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=-7.700e-02;SOR=0.879	GT:AD:DP:GQ:PL	0/1:87,84:171:99:2205,0,2274	20	0	1	0
chr4	119271709	119271709	C	T	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.C1696T:p.P566S	.	.	436	1068	18	0	0	18	0.00835655	.	.	720732	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.96	T	0.003	B	0.003	B	0.395	N	1.000	N	0.39	N	2.46	T	-0.961	T	0.016	T	0.05	-1.130	0.117	-1.71	-0.270	-0.426	2.575	0.032	.	0.0035	0.00159744	0.0040	0.0008	0.0067	0	0.0006	0.0050	0.0123	0.0029	0.0038421	594	154602	rs147140509	0.0045	0.0045	0.0045	0.0045	0.0113	0.0044	0.0044	0.0091	0.0083	0.0010	0.0038	0.0056	0	0.0014	0.0113	0.0049	0.0050	0.0034	0.0029	0.0029	0.0032	0.0026	0.0044	0.0027	0.0026	0.0040	0.0039	0.0009	0	0.0022	0.0058	0	0.0013	0.0411	0.0044	0.0038	0.0031	0.41	0.10148	T	0.959	0.02555	T	0.003	0.11197	B	0.003	0.08700	B	0.395286	0.13199	N	0.719952	1	0.08975	N	1.12	0.28775	L	2.46	0.14907	T	-1.24	0.31375	N	0.055	0.02658	-0.9613	0.38936	T	0.016	0.06425	T	10	0.0031200051	0.00052	T	.	.	.	0.032	0.07718	.	.	0.307332253619	0.30352	0.07958141728897741	0.07893	0.138693011679	0.15641	0.240512296557	0.02837	T	0.00409	0.03502	T	-0.68941	0.00042	T	-0.761975	0.03042	T	0.000688057911694963	0.00006	T	0.584642	0.21276	T	0.01913809	0.00439	0.023445774	0.00358	0.01913809	0.00439	0.023445774	0.00357	-2.689	0.07211	T	.	.	0.077	0.06433	B	.;.	.;.	-0.276737	0.02721	0.359	0.57365281913069399	0.05753	0.10011	0.15632	N	AEFBI	0.078094	0.15749	N	-1.25241476748835	0.04267	0.1922847	-1.2491995289293	0.05143	0.2443526	0.944076082587791	0.27599	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.58	-1.71	0.07696	0.011000	0.13162	0.378000	0.17749	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.551000	0.30197	0.108:0.4076:0.2139:0.2705	2.575	0.04513	546	0.72524	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1856.98	35	chr4	119271709	.	C	T	1856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=954;ExcessHet=0.0000;FS=1.275;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.648;SOR=0.732	GT:AD:DP:GQ:PL	0/1:78,73:151:99:1871,0,1852	20	0	1	0
chr4	121670000	121670000	C	T	exonic	ANXA5	.	nonsynonymous SNV	ANXA5:NM_001154:exon11:c.G734A:p.R245Q,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.711	P	0.000	D	1.000	D	1.76	L	2.76	T	-1.179	T	0.052	T	0.861	4.027	20.7	5.52	2.584	6.086	18.198	0.239	0.00814331002882	0.0012	0.000199681	0.0010	0	0.0009	0	0	0.0015	0.0033	0.0003	0.0008603	133	154602	rs145513784	0.0006	0.0007	0.0006	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	9.164e-05	0.0006	0.0145	2.533e-05	5.623e-05	0.0026	0.0004	0.0013	0.0005	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0008	0.0006	7.227e-05	0	0.0012	0.0130	0	9.457e-05	0.0034	0.0005	0.0009	0.0002	0.076	0.38407	T	0.36	0.29249	T	0.999	0.77913	D	0.711	0.54536	P	0.000025	0.55875	D	0.113115	0.999994	0.58761	D	1.955	0.52871	M	2.76	0.11515	T	-2.93	0.64593	D	0.529	0.55799	-1.1791	0.00383	T	0.052	0.22114	T	10	0.0099906325	0.00224	T	0.008143	0.21572	T	0.239	0.54358	.	.	0.64992776045	0.64702	0.7287318009238326	0.72817	0.600742330255	0.55147	0.472031742334	0.34959	T	0.363	0.72864	T	-0.127122	0.31964	T	-0.0504644	0.66991	D	0.177510887384415	0.19077	T	0.956004	0.83260	D	0.493785	0.66728	0.28685826	0.54695	0.493785	0.66729	0.28685826	0.54695	-6.312	0.48817	T	.	.	0.273	0.54250	B	.;.;.	.;.;.	5.566614	0.92182	32	0.99848833101050494	0.92838	0.97867	0.77726	D	AEFBI	0.735570	0.68134	D	0.499319450162693	0.67051	5.030303	0.564963731177956	0.72447	5.810905	0.999999999997475	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	4.614000	0.60886	7.568000	0.60641	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.198	0.89762	802	0.44336	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	431.98	35	chr4	121670000	.	C	T	431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.736;DP=753;ExcessHet=0.0000;FS=4.201;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=1.43;SOR=0.860	GT:AD:DP:GQ:PL	0/1:28,19:47:99:446,0,672	20	0	1	0
chr4	122316514	122316514	A	G	exonic	KIAA1109	.	nonsynonymous SNV	KIAA1109:NM_001384125:exon62:c.A10706G:p.H3569R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	D	.	.	1.59	T	-0.862	T	0.160	T	0.523	2.491	14.29	5.27	2.108	7.102	15.480	0.156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.669e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.12796	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.59	0.28836	T	0.3	0.04091	N	.	.	-0.8618	0.51133	T	0.160	0.49463	T	6	0.2771085	0.45276	T	.	.	.	0.156	0.40720	0.231	0.15855	0.545173277474	0.54172	.	.	.	.	.	.	.	0.002105	0.01509	T	-0.076939	0.40210	T	-0.348294	0.39400	T	0.617290539001975	0.37095	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.;.	.;.	2.262371	0.28910	17.95	0.97995682254424743	0.37438	0.99262	0.93620	D	AEFBI	0.798408	0.72496	D	0.411702957054516	0.62064	4.416458	0.486254321042019	0.67079	5.036178	0.99996692957306	0.48965	0.615465	0.37627	0	0.446627	0.06534	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.27	5.27	0.73797	7.417000	0.79365	6.100000	0.53542	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.480	0.75253	877	0.30165	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1285.98	34	chr4	122316514	.	A	G	1285.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e-02;DP=785;ExcessHet=0.0000;FS=0.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-1.008e+00;SOR=0.610	GT:AD:DP:GQ:PL	0/1:38,55:93:99:1300,0,817	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|1:51,17:68:67:0|1:127704250_G_C:67,0,1485:127704250	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|1:51,17:68:67:0|1:127704250_G_C:67,0,1485:127704250	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	0/1:47,14:61:32:32,0,830	7	0	9	5
chr4	139730437	139730439	CTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2310del:p.Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,77,0:77:99:3439,232,0,3439,232,3439	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	1/1:0,77,0:77:99:3439,232,0,3439,232,3439	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	0/3:77,4,0,26,0:107:99:.:.:669,744,3844,903,3833,3981,0,2914,3061,2973,903,3833,3981,3061,3981	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	0/3:77,4,0,26,0:107:99:.:.:669,744,3844,903,3833,3981,0,2914,3061,2973,903,3833,3981,3061,3981	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	0/3:77,4,0,26,0:107:99:.:.:669,744,3844,903,3833,3981,0,2914,3061,2973,903,3833,3981,3061,3981	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	0/3:77,4,0,26,0:107:99:.:.:669,744,3844,903,3833,3981,0,2914,3061,2973,903,3833,3981,3061,3981	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	0/1:65,22:89:99:.:.:285,0,2265	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	0/1:65,24:89:99:.:.:306,0,2258	1	0	20	0
chr4	143697457	143697457	G	0	exonic	FREM3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	94707.57	120	chr4	143697457	.	G	C,*	94707.57	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;QD=32.86;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,134,0:134:99:.:.:4600,403,0,4600,403,4600	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	0/1:24,21,0,0,0:45:99:741,0,880,813,943,1756,813,943,1756,1756,813,943,1756,1756,1756	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	0/1:24,21,0,0,0:45:99:741,0,880,813,943,1756,813,943,1756,1756,813,943,1756,1756,1756	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	0/1:24,21,0,0,0:45:99:741,0,880,813,943,1756,813,943,1756,1756,813,943,1756,1756,1756	0	10	4	0
chr4	169433624	169433624	C	T	exonic	NEK1	.	nonsynonymous SNV	NEK1:NM_001374421:exon24:c.G2323A:p.G775R	Short-rib thoracic dysplasia 6 with or without polydactyly, Autosomal recessive, Digenic recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.008	B	0.005	B	0.695	N	1.000	N	0.41	N	-0.27	T	-0.979	T	0.156	T	0.053	1.157	9.711	-4.06	-0.705	0.602	13.557	0.117	0.0249401505495	.	.	8.305e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs752830071	1.3e-05	1.3e-05	1.498e-05	1.101e-05	0.0003	8.32e-06	6.7e-06	6.099e-05	2.524e-05	0	2.236e-05	0	0	0	0.0003	1.349e-05	1.658e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.47e-05	0	0	0.343	0.13834	T	0.501	0.11153	T	0.001	0.14655	B	0.002	0.11217	B	0.695417	0.06171	N	1.161110	1	0.08975	N	0.375	0.12094	N	-0.27	0.67712	T	-0.32	0.13611	N	0.026	0.06454	-0.9787	0.35299	T	0.156	0.48807	T	10	0.06366277	0.08326	T	0.02494	0.47924	T	0.117	0.32689	0.052	0.00113	0.558342666981	0.55495	0.023906102697269175	0.02341	0.062132196771	0.06914	0.236442580819	0.02479	T	0.038653	0.24916	T	-0.30317	0.08363	T	-0.590394	0.13631	T	0.02988499095839	0.01971	T	0.737626	0.35462	T	0.07507729	0.16890	0.06736327	0.13927	0.07507729	0.16890	0.06736327	0.13926	-4.27	0.28093	T	0.12679892857863995	0.12867	0.067	0.06942	B	.;.;.;.;.	.;.;.;.;.	0.776407	0.11463	8.069	0.53384445741817477	0.04929	0.00534	0.02469	N	AEFI	0.028899	0.02629	N	-1.15316192700333	0.05728	0.2618932	-1.20080478017383	0.05898	0.2823223	0.983745138953857	0.30608	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.65	-4.06	0.03718	0.505000	0.22352	-0.235000	0.10642	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.2921:0.0:0.7079	13.557	0.61225	907	0.22727	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1344.98	35	chr4	169433624	.	C	T	1344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.930e-01;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.430;SOR=0.760	GT:AD:DP:GQ:PL	0/1:48,60:108:99:1359,0,1053	20	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.018	B	0.016	B	0.000	D	1.000	D	1.085	L	.	.	-0.916	T	0.201	T	0.066	2.388	13.94	5.98	2.843	4.695	20.437	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1206.97	34	chr4	176711629	.	G	C	1206.97	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-5.125e+00;DP=1382;ExcessHet=4.7172;FS=102.363;InbreedingCoeff=-0.2644;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=0.755;SOR=10.330	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,28:95:99:0|1:176711629_G_C:369,0,2517:176711629	12	0	9	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1678376	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.988	D	0.000	D	1.000	D	1.52	L	.	.	-0.325	T	0.394	T	0.926	4.430	23.6	5.98	2.843	9.466	20.437	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	1555.83	65	chr4	176711631	.	G	C	1555.83	.	AC=11;AF=0.324;AN=34;BaseQRankSum=-1.679e+00;DP=1803;ExcessHet=7.7275;FS=101.631;InbreedingCoeff=-0.4496;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=1.71;ReadPosRankSum=0.695;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,28:95:99:0|1:176711629_G_C:369,0,2517:176711629	6	0	11	4
chr4	182773536	182773536	G	A	exonic	TENM3	.	nonsynonymous SNV	TENM3:NM_001080477:exon23:c.G4957A:p.G1653R,	Microphthalmia, isolated, with coloboma 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.917	P	0.421	B	.	.	1.000	D	-0.74	N	-2.0	D	-0.449	T	0.306	T	0.692	2.822	15.40	5.26	2.733	3.462	19.075	0.476	0.0274089538049	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs762748213	1.368e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.14352	T	0.319	0.19188	T	0.917	0.50750	P	0.421	0.45113	B	.	.	.	.	0.999707	0.48408	D	0	0.06538	N	-2.0	0.85393	D	-0.63	0.18459	N	0.453	0.49055	-0.4494	0.70420	T	0.306	0.67694	T	9	0.22815627	0.39713	T	0.027409	0.50222	D	0.476	0.76816	0.447	0.50629	0.260580752073	0.25663	0.6704695424240541	0.66984	0.367028223889	0.38272	0.690092921257	0.65719	T	0.045427	0.27120	T	0.253115	0.78892	D	0.125806	0.78618	D	0.413473364928087	0.29447	T	0.873813	0.58316	D	0.1366303	0.31667	0.22479966	0.47403	0.1366303	0.31666	0.22479966	0.47402	-3.547	0.17096	T	0.18616930833788087	0.24219	0.391	0.59045	A	.	.	4.750526	0.76703	26.6	0.96291833613261257	0.29318	0.92252	0.55286	D	AEFGBI	0.362128	0.45149	N	0.0829722116189971	0.45670	2.819617	0.244559422937701	0.52340	3.409538	0.999992709067219	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	2.380000	0.43982	8.646000	0.77914	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.075	0.93139	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	1246.98	41	chr4	182773536	.	G	A	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=819;ExcessHet=0.0000;FS=1.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=1.09;SOR=0.555	GT:AD:DP:GQ:PL	0/1:61,52:113:99:1261,0,1423	20	0	1	0
chr4	185346597	185346597	A	G	exonic	SNX25	.	nonsynonymous SNV	SNX25:NM_001317781:exon13:c.A1756G:p.I586V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.002	B	0.014	B	0.021	N	0.937	N	0.665	N	1.11	T	-1.046	T	0.042	T	0.039	-0.167	3.187	-5.36	-0.806	-0.239	16.115	0.063	.	.	0.00119808	0.0010	0	0	0.0127	0	1.501e-05	0	0.0004	0.0008021	124	154602	rs3756275	0.0003	0.0003	0.0003	0.0003	0.0101	0.0003	0.0003	0.0093	0.0090	0	0	0	0.0101	1.876e-05	0	1.175e-05	0.0002	0.0004	0.0004	0.0004	0.0004	0.0004	0.0100	0.0003	0.0003	0.0079	0.0071	0	0	6.537e-05	0	0.0100	9.418e-05	0	1.47e-05	0	0.0004	0.702	0.04148	T	0.42	0.19908	T	0.001	0.07471	B	0.014	0.16862	B	0.020551	0.27016	N	0.429763	0.937129	0.26899	N	0.77	0.19370	N	1.11	0.38883	T	-0.11	0.08653	N	0.09	0.06854	-1.0457	0.15621	T	0.042	0.17952	T	10	0.006334424	0.00143	T	.	.	.	0.063	0.18251	.	.	0.17258766438	0.16869	0.13737349135907523	0.13661	0.14544047076	0.16437	0.344366461039	0.17088	T	0.005339	0.04790	T	-0.649457	0.00073	T	-0.695288	0.06087	T	0.00391087823129396	0.00041	T	0.829517	0.49484	T	0.0316539	0.03045	0.042542018	0.05090	0.0316539	0.03045	0.042542018	0.05089	-3.982	0.24654	T	.	.	0.055	0.00361	B	.;.;.	.;.;.	0.001921	0.04295	1.079	0.48618540235496155	0.04072	0.12014	0.17006	N	AEFBI	0.068552	0.13528	N	-1.12345285230424	0.06228	0.2861271	-1.07918459535527	0.08111	0.3973716	0.999983264029797	0.51787	0.732398	0.92422	0	0.698795	0.70079	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.28	-5.36	0.02480	-0.241000	0.08958	-0.374000	0.09587	-0.065000	0.16512	0.007000	0.17678	0.000000	0.08366	0.994000	0.71098	0.3932:0.0:0.6068:0.0	16.115	0.81112	940	0.13648	.;Phox homologous domain|Phox homologous domain|Phox homologous domain|SNX25, PX domain;Phox homologous domain|Phox homologous domain|Phox homologous domain|SNX25, PX 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	562.98	38	chr4	185346597	.	A	G	562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=0.868;SOR=0.580	GT:AD:DP:GQ:PL	0/1:29,25:54:99:577,0,600	20	0	1	0
chr4	185415786	185415786	C	T	exonic	UFSP2	.	nonsynonymous SNV	UFSP2:NM_018359:exon5:c.G415A:p.G139R,	.	.	.	.	.	.	.	.	.	.	.	3491276	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.003	B	0.001	B	0.121	N	1.000	N	1.355	L	1.6	T	-1.016	T	0.103	T	0.325	0.835	8.370	4.38	1.315	2.009	6.951	0.035	0.0112985912673	7.7e-05	.	1.649e-05	9.63e-05	8.652e-05	0	0	0	0	0	1.94e-05	3	154602	rs368418190	1.026e-05	1.026e-05	1.362e-05	6.877e-06	4.473e-05	6.16e-06	4.89e-06	7.41e-06	5.03e-06	0	4.473e-05	0	0	0	0	1.169e-05	0	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.941e-05	0	0	0.528	0.07071	T	0.534	0.09965	T	0.003	0.11197	B	0.001	0.04355	B	0.120840	0.19019	N	0.564644	1	0.08975	N	0.69	0.16971	N	1.6	0.28604	T	1.05	0.01314	N	0.252	0.28498	-1.0160	0.25013	T	0.103	0.37869	T	10	0.042892963	0.03083	T	0.011299	0.28784	T	0.065	0.18881	0.32	0.29902	0.251639045875	0.24756	0.2662064763357304	0.26533	0.0856962128083	0.09686	0.338303357363	0.16183	T	0.003426	0.02829	T	-0.317353	0.07117	T	-0.512104	0.21099	T	0.0650418102741241	0.07937	T	0.782522	0.41827	T	0.022897625	0.00986	0.03717971	0.03315	0.022897625	0.00986	0.03717971	0.03315	-3.739	0.19895	T	.	.	0.097	0.15743	B	.	.	2.123456	0.27030	17.32	0.82843262029878006	0.14404	0.05337	0.11192	N	AEFBI	0.055984	0.10313	N	-0.0756945678816477	0.38461	2.252959	-0.0780193410086855	0.36301	2.110804	0.989599887989064	0.31876	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.22	4.38	0.52019	2.016000	0.40591	2.720000	0.34304	0.599000	0.40250	0.029000	0.20367	0.903000	0.28003	0.806000	0.37994	0.0:0.6983:0.0:0.3017	6.951	0.23726	945	0.12563	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1271.98	33	chr4	185415786	.	C	T	1271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=807;ExcessHet=0.0000;FS=0.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-2.000e-01;SOR=0.803	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1286,0,1320	20	0	1	0
chr4	188139649	188139649	T	A	exonic	TRIML1	.	nonsynonymous SNV	TRIML1:NM_178556:exon1:c.T91A:p.C31S,	.	.	430	1071	19	2	0	23	0.0106236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.22	H	0.57	T	0.257	D	0.428	T	0.373	4.692	26.0	5.59	2.263	7.353	14.037	0.541	.	0.0083	0.00299521	0.0072	0.0024	0.0042	0	0.0035	0.0107	0.0078	0.0035	0.0072379	1119	154602	rs62618670	0.0097	0.0097	0.0097	0.0097	0.0113	0.0096	0.0095	0.0111	0.0111	0.0020	0.0053	0.0068	5.04e-05	0.0039	0.0109	0.0113	0.0089	0.0039	0.0075	0.0075	0.0081	0.0070	0.0120	0.0072	0.0070	0.0113	0.0110	0.0019	0.0263	0.0096	0.0072	0	0.0028	0.0102	0.0120	0.0052	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000027	0.55875	D	0.000000	0.999839	0.49637	D	4.42	0.98718	H	0.57	0.54347	T	-9.34	0.98340	D	0.952	0.96072	0.257	0.86855	D	0.428	0.77055	T	10	0.018459052	0.00402	T	.	.	.	0.541	0.80842	0.96	0.99583	0.735379351521	0.73301	0.6699191004055212	0.66929	0.283721209908	0.30810	0.642670512199	0.58944	T	0.18462	0.53733	T	-0.311884	0.07584	T	-0.211381	0.53562	T	0.121879094384851	0.14612	T	0.979302	0.92791	D	0.9858612	0.99523	0.9732791	0.99600	0.9858612	0.99523	0.9732791	0.99600	-8.917	0.67161	D	.	.	0.924	0.84533	P	.	.	4.688179	0.75090	26.3	0.99441462626623878	0.64770	0.98736	0.86194	D	AEFI	0.876536	0.80060	D	1.02061756839301	0.96344	14.58287	0.923185732623559	0.96505	14.77977	0.999213322290424	0.38775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	7.131000	0.76850	3.822000	0.39956	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	14.037	0.64172	985	0.02828	Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1290.11	33	chr4	188139649	.	T	A	1290.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.08;DP=837;ExcessHet=0.1072;FS=23.094;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=-4.700e-02;SOR=0.813	GT:AD:DP:GQ:PL	0/1:53,35:88:99:747,0,1353	19	0	2	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G,	.	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.047	B	0.081	B	0.000	D	1.000	D	0.485	N	2.6	T	-1.080	T	0.058	T	0.714	-0.181	3.117	4.19	1.677	5.001	11.575	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2047.95	100	chr4	189957425	.	A	G	2047.95	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.170e-01;DP=2475;ExcessHet=4.7172;FS=2.456;InbreedingCoeff=-0.2675;MLEAC=9;MLEAF=0.214;MQ=47.50;MQRankSum=-1.662e+00;QD=1.66;ReadPosRankSum=-7.240e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/1:67,19:86:99:233,0,1789	12	0	9	0
chr5	434581	434581	C	G	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon11:c.C1841G:p.A614G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.763	P	0.366	B	0.063	N	0.819	N	0.695	N	2.13	T	-0.995	T	0.059	T	0.141	1.782	11.92	3.88	1.117	0.303	10.844	0.045	0.00740132644651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.402e-06	1.368e-06	0	2.831e-06	9.137e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.137e-07	1.694e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.31682	T	0.324	0.18903	T	0.651	0.43659	P	0.15	0.43381	B	0.062645	0.02158	N	2.037110	1	0.08975	N	1.24	0.30952	L	2.13	0.25018	T	-1.1	0.34397	N	0.236	0.26596	-0.9953	0.31218	T	0.059	0.24760	T	10	0.09944296	0.18047	T	0.007401	0.19630	T	0.045	0.12272	0.275	0.22687	0.444102476654	0.44032	0.08704438153774698	0.08638	0.216955615391	0.24212	0.405323177576	0.25808	T	0.106057	0.41707	T	-0.254168	0.13591	T	-0.602871	0.12572	T	0.28731444478035	0.24477	T	0.675632	0.28448	T	0.10975059	0.25946	0.070184916	0.14880	0.10975059	0.25946	0.070184916	0.14879	-3.103	0.11330	T	.	.	0.094	0.25166	B	.;.;.;.	.;.;.;.	0.903565	0.12774	9.293	0.96366413413184671	0.29570	0.34353	0.25047	N	AEFDGBCI	0.068185	0.13440	N	-0.575793876995246	0.19682	1.031988	-0.644486031585379	0.18356	0.9802229	0.999999882348898	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.75	3.88	0.43959	0.423000	0.21032	1.529000	0.27146	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.0:0.9065:0.0:0.0935	10.844	0.45938	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	0	0	0	0	0.02381	1107.98	51	chr5	434581	.	C	G	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.230e+00;DP=1066;ExcessHet=0.0000;FS=3.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=1.44;SOR=0.422	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1122,0,1414	20	0	1	0
chr5	1038305	1038305	C	T	exonic	NKD2	.	nonsynonymous SNV	NKD2:NM_033120:exon10:c.C1288T:p.R430W,	.	.	440	1078	3	0	1	4	0.00138953	.	.	3362195	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	U	1.000	N	0.55	N	0.26	T	-0.818	T	0.200	T	0.471	1.724	11.72	-0.942	-0.356	0.168	10.155	0.064	0.0417665895515	.	0.000199681	0.0004	0	0	0	0	0	0	0.0011	7.12e-05	11	154602	rs550078185	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0007	0.0007	6.232e-05	8.157e-05	0	2.741e-05	0	0.0004	8.395e-05	0.0002	0.0009	0.0001	0.0001	0.0001	0.0001	0.0015	6.509e-05	5.321e-05	0.0007	0.0005	0	0	0.0002	0	0	0	0	8.823e-05	0	0.0015	0.043	0.41364	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000005	0.62929	U	0.000000	0.998365	0.81001	D	2.085	0.57729	M	0.26	0.59314	T	-4.65	0.79399	D	0.298	0.33687	-0.8179	0.54065	T	0.200	0.55625	T	10	0.06571761	0.08907	T	0.041767	0.60104	D	0.256	0.56694	0.37	0.38013	0.651212884413	0.64831	0.42757223575471176	0.42674	0.300067500273	0.32371	0.587402582169	0.51128	T	0.538501	0.84155	D	-0.34805	0.04851	T	-0.308105	0.43861	T	0.512789070606232	0.33100	D	0.538446	0.18153	T	0.17342444	0.38090	0.12964079	0.31166	0.17342444	0.38090	0.12964079	0.31165	-11.405	0.81832	D	.	.	0.317	0.54309	B	.	.	3.184585	0.43240	21.7	0.99708233406217994	0.81143	0.42382	0.26865	N	AEFGBI	0.281190	0.39483	N	-0.352948940419374	0.27163	1.488173	-0.499674856150576	0.22163	1.202453	0.227744558569149	0.18430	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	3.59	-0.942	0.09869	-0.033000	0.12196	0.716000	0.20974	-0.223000	0.07921	0.918000	0.31901	0.983000	0.30585	0.749000	0.35751	0.7758:0.2242:0.0:0.0	10.155	0.41991	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	0.02381	1029.98	49	chr5	1038305	.	C	T	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=838;ExcessHet=0.0000;FS=1.811;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=1.20;SOR=0.586	GT:AD:DP:GQ:PL	0/1:42,39:81:99:1044,0,1034	20	0	1	0
chr5	14397101	14397101	T	C	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.T4370C:p.M1457T,	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.986	D	0.000	D	1.000	D	3.405	M	-0.15	T	0.311	D	0.546	D	0.96	3.782	19.20	5.65	2.279	7.927	16.178	0.803	0.607880101629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.62	0.93917	H	-0.15	0.65192	T	-5.22	0.85103	D	0.933	0.93841	0.311	0.87728	D	0.546	0.83298	D	10	0.91930556	0.91287	D	0.60788	0.96567	D	0.803	0.93582	0.768	0.89530	0.770173575234	0.76806	0.8865844041988105	0.88627	2.08621322631	0.94675	0.935062050819	0.99249	D	0.461553	0.79828	T	0.385551	0.89062	D	0.316041	0.88925	D	0.99721485376358	0.91033	D	0.994516	0.98171	D	0.8800467	0.89670	0.8839668	0.93840	0.8800467	0.89671	0.8839668	0.93840	-12.877	0.88850	D	0.8126676643583495	0.88728	0.993	0.96223	P	.;.;.	.;.;.	4.517657	0.70805	25.6	0.98558679360083823	0.42948	0.96380	0.68855	D	AEFBHCI	0.913403	0.87534	D	0.886268292424851	0.91070	10.701	0.841236870122834	0.92495	11.45868	0.999999999999891	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	7.949000	0.87258	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	16.178	0.81689	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	75.1	38	chr5	14397101	.	T	C	75.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.350e-01;DP=862;ExcessHet=0.1072;FS=66.961;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.49;ReadPosRankSum=-1.800e-01;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,14:84:64:0|1:14397101_T_C:64,0,2540:14397101	19	0	2	0
chr5	14397102	14397102	G	A	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.G4371A:p.M1457I,	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.979	D	0.97	D	0.000	D	1.000	D	2.125	M	0.19	T	-0.482	T	0.387	T	0.884	4.715	26.2	5.65	2.824	9.725	20.096	0.445	0.0409430656795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.013	0.63109	D	0.979	0.59044	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	0.19	0.60236	T	-3.48	0.69357	D	0.82	0.81559	-0.4822	0.69288	T	0.387	0.74187	T	10	0.7300097	0.74233	D	0.040943	0.59658	D	0.445	0.74727	0.603	0.73466	0.508882987362	0.50527	0.8542333247851932	0.85386	2.03962625952	0.94218	0.903453052044	0.96813	D	0.394776	0.75383	T	0.315296	0.84136	D	0.215124	0.83929	D	0.961490571498871	0.66098	D	0.997445	0.98962	D	0.7682298	0.81942	0.7615341	0.85911	0.7682298	0.81943	0.7615341	0.85912	-11.132	0.80376	D	0.7776095063335766	0.85790	0.993	0.96282	P	.;.;.	.;.;.	4.666563	0.74536	26.2	0.99449286284606386	0.65172	0.97759	0.76927	D	AEFBHCI	0.904397	0.85465	D	0.618858874204644	0.74370	6.120863	0.693219286210317	0.81863	7.627383	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	9.914000	0.98694	11.752000	0.95431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	20.096	0.97848	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	92.68	38	chr5	14397102	.	G	A	92.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.650e+00;DP=917;ExcessHet=0.3300;FS=156.957;InbreedingCoeff=-0.0768;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=1.44;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,14:84:64:0|1:14397101_T_C:64,0,2540:14397101	18	0	3	0
chr5	19571795	19571795	T	G	exonic	CDH18	.	nonsynonymous SNV	CDH18:NM_001167667:exon8:c.A1037C:p.N346T	.	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	B	0.038	B	0.000	N	0.998	D	-0.16	N	0.89	T	-1.094	T	0.051	T	0.242	2.612	14.69	4.01	0.923	3.851	11.304	0.040	0.00808449363578	0.0007	.	0.0006	0.0002	8.655e-05	0	0.0002	0.0009	0	0.0004	0.0005498	85	154602	rs150989071	0.0006	0.0006	0.0006	0.0007	0.0035	0.0006	0.0006	0.0023	0.0019	0.0003	0.0005	0.0065	2.52e-05	0.0001	0.0035	0.0005	0.0011	0.0006	0.0007	0.0007	0.0006	0.0007	0.0015	0.0006	0.0005	0.0007	0.0005	0.0002	0	0.0007	0.0069	0	0	0.0102	0.0006	0.0014	0.0015	0.083	0.35918	T	0.202	0.27414	T	0.027	0.19556	B	0.038	0.23361	B	0.000002	0.62929	N	0.099811	0.998287	0.44722	D	-0.585	0.02270	N	0.89	0.45636	T	-1.63	0.39119	N	0.181	0.26596	-1.0940	0.04899	T	0.051	0.21844	T	9	0.014262378	0.00300	T	0.008084	0.21418	T	0.040	0.10527	.	.	0.602933245068	0.59976	0.2640124338119328	0.26314	0.127789886917	0.14414	0.653760254383	0.60520	T	0.071764	0.34288	T	-0.454016	0.01069	T	-0.532455	0.19043	T	0.280897378921509	0.24209	T	0.718928	0.33194	T	0.12301191	0.28893	0.15382247	0.36129	0.12301191	0.28893	0.15382247	0.36128	-6.571	0.51705	T	.	.	0.091	0.28290	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.857260	0.37744	20.6	0.98749338834504785	0.45633	0.91655	0.53983	D	AEFI	0.548506	0.56176	D	-0.325614555395689	0.28179	1.552092	-0.114986403952836	0.34785	2.004899	0.0767323530381463	0.15737	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.17	4.01	0.45821	2.671000	0.46507	4.312000	0.42972	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.163:0.837	11.304	0.48559	894	0.26265	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1424.98	33	chr5	19571795	.	T	G	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.249e+00;DP=811;ExcessHet=0.0000;FS=5.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=0.580;SOR=0.338	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1439,0,1518	20	0	1	0
chr5	38933380	38933380	C	G	exonic	OSMR	.	nonsynonymous SNV	OSMR:NM_001323505:exon18:c.C2876G:p.P959R	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant	.	1	1361	149	11	0	171	0.0591082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.845	P	0.467	P	0.397	N	1.000	N	1.355	L	1.06	T	-1.018	T	0.066	T	0.191	1.719	11.71	2.64	0.790	0.641	8.229	0.053	.	0.0052	0.00838658	0.0113	0.0013	0.0119	0.0001	0.0029	0.0081	0.0198	0.0388	0.0100775	1558	154602	rs34080825	0.0081	0.0081	0.0068	0.0095	0.0468	0.0080	0.0079	0.0422	0.0404	0.0009	0.0093	0.0258	0.0001	0.0022	0.0468	0.0056	0.0099	0.0408	0.0065	0.0065	0.0060	0.0071	0.0330	0.0062	0.0060	0.0289	0.0273	0.0011	0	0.0092	0.0248	0.0004	0.0040	0.0646	0.0070	0.0095	0.0330	0.061	0.37118	T	0.099	0.38891	T	0.845	0.46707	P	0.467	0.46683	P	0.396557	0.04509	N	1.368040	1	0.08975	N	1.78	0.46185	L	1.06	0.39781	T	-1.96	0.45404	N	0.081	0.05670	-1.0181	0.24334	T	0.066	0.27052	T	10	0.0029414892	0.00047	T	.	.	.	0.053	0.14996	.	.	.	.	0.14100321930981063	0.14023	0.237616639877	0.26298	0.225426003337	0.01647	T	0.135175	0.46684	T	-0.569761	0.00222	T	-0.56263	0.16131	T	0.0126930513815079	0.00213	T	0.326967	0.06756	T	0.039785415	0.05556	0.073263034	0.15901	0.035993196	0.04343	0.073263034	0.15901	-4.86	0.35282	T	.	.	0.086	0.10835	B	.	.	1.366445	0.17758	13.35	0.93641793816937802	0.23520	0.23376	0.22056	N	AEFDGBI	0.077479	0.15610	N	-0.35203401344841	0.27197	1.490269	-0.476864511363895	0.22792	1.23975	0.99880471190545	0.37711	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.636168	0.56350	0	.	.	5.79	2.64	0.30504	0.371000	0.20182	0.714000	0.20960	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7212:0.0:0.2788	8.229	0.30746	261	0.89765	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3718.11	37	chr5	38933380	.	C	G	3718.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.91;DP=1014;ExcessHet=0.1072;FS=8.925;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.934;SOR=1.091	GT:AD:DP:GQ:PL	0/1:85,74:159:99:1910,0,2140	19	0	2	0
chr5	52918874	52918874	A	G	exonic	ITGA1	.	nonsynonymous SNV	ITGA1:NM_181501:exon16:c.A2131G:p.K711E,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.629	P	0.326	B	0.028	N	0.552	D	0.895	L	0.89	T	-0.990	T	0.076	T	0.623	2.555	14.50	5.51	2.210	3.906	10.303	0.087	0.00570558968817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256608619	4.147e-06	4.104e-06	4.122e-06	4.172e-06	2.432e-05	1.49e-06	9.8e-07	4.04e-06	1.51e-06	0	0	0	0	0	0	3.612e-06	0	2.432e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.07330	T	0.949	0.02624	T	0.629	0.40170	P	0.326	0.41929	B	0.027840	0.25696	N	0.471963	0.551645	0.32138	D	2.28	0.64929	M	0.89	0.45636	T	-1.07	0.27876	N	0.254	0.28732	-0.9903	0.32525	T	0.076	0.30553	T	10	0.26649776	0.44155	T	0.005706	0.14772	T	0.087	0.25287	0.392	0.41606	0.594763190098	0.59155	0.4809823666585849	0.48018	0.379006366498	0.39307	0.523798108101	0.42161	T	0.067601	0.33244	T	-0.0509127	0.44307	T	-0.310909	0.43559	T	0.50417560338974	0.32782	D	0.775222	0.40690	T	0.15754578	0.35494	0.14444445	0.34293	0.15754578	0.35493	0.14444445	0.34292	-8.833	0.66615	D	.	.	0.075	0.05668	B	.	.	2.918952	0.38741	20.8	0.99716763960713561	0.81773	0.79860	0.39658	D	AEFI	0.408362	0.48007	N	0.0922065738163957	0.46098	2.855645	0.226681238711263	0.51332	3.31675	0.81345949615901	0.24396	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.51	5.51	0.81769	3.106000	0.50013	11.125000	0.86648	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.9263:0.0:0.0737:0.0	10.303	0.42842	713	0.56348	Integrin alpha-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	1413.98	34	chr5	52918874	.	A	G	1413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.810e-01;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-1.760e+00;SOR=0.685	GT:AD:DP:GQ:PL	0/1:49,56:105:99:1428,0,1238	20	0	1	0
chr5	52945020	52945020	C	A	exonic	ITGA1	.	nonsynonymous SNV	ITGA1:NM_181501:exon27:c.C3363A:p.S1121R,	.	.	444	1057	20	1	0	22	0.0102996	.	.	721474	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.41	T	0.136	B	0.017	B	0.042	N	0.860	N	0.64	N	0.79	T	-1.103	T	0.039	T	0.202	2.011	12.68	0.424	0.381	-0.592	0.543	0.064	.	0.0057	0.00539137	0.0072	0.0012	0.0019	0.0019	0.0127	0.0084	0.0121	0.0102	0.0072056	1114	154602	rs151102756	0.0082	0.0082	0.0080	0.0083	0.0098	0.0080	0.0080	0.0092	0.0090	0.0013	0.0020	0.0023	0.0008	0.0120	0.0052	0.0088	0.0062	0.0098	0.0058	0.0058	0.0057	0.0059	0.0102	0.0055	0.0054	0.0083	0.0081	0.0018	0	0.0012	0.0020	0.0012	0.0108	0	0.0089	0.0038	0.0102	0.208	0.19782	T	0.045	0.49390	D	0.136	0.27347	B	0.017	0.18140	B	0.041512	0.23942	N	0.515513	0.859682	0.28374	N	1.1	0.28011	L	0.79	0.49068	T	-0.81	0.22294	N	0.22	0.24634	-1.1030	0.03747	T	0.039	0.16634	T	10	0.005416006	0.00119	T	.	.	.	0.064	0.18567	0.354	0.35408	0.498259528926	0.49460	0.44795778726247065	0.44713	0.184186325535	0.20715	0.357897281647	0.19079	T	0.054622	0.29777	T	-0.545348	0.00311	T	-0.54817	0.17501	T	0.0266211991136167	0.01491	T	0.652235	0.26282	T	0.07397097	0.16567	0.05098772	0.08114	0.07397097	0.16567	0.05098772	0.08113	-4.82	0.34823	T	.	.	0.217	0.44745	B	.	.	2.001094	0.25425	16.76	0.98561422426639278	0.42986	0.18904	0.20449	N	AEFDBI	0.104861	0.20969	N	-0.54948648376452	0.20500	1.081116	-0.432061412372852	0.24062	1.315583	0.999592032345798	0.40745	0.615465	0.37627	0	0.541556	0.11502	0	0.658983	0.55881	0	0.404113	0.06833	1	.	.	5.63	0.424	0.15684	-0.165000	0.09957	0.386000	0.17834	0.599000	0.40250	0.945000	0.32849	0.993000	0.31925	0.997000	0.79791	0.2824:0.337:0.1371:0.2434	0.543	0.00605	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	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	2815.11	35	chr5	52945020	.	C	A	2815.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.851;DP=892;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=1.98;SOR=0.729	GT:AD:DP:GQ:PL	0/1:55,68:123:99:1707,0,1332	19	0	2	0
chr5	55916796	55916796	A	-	exonic	IL31RA	.	frameshift deletion	IL31RA:NM_001242636:exon15:c.1914delA:p.T639Rfs*7	Amyloidosis, primary localized cutaneous, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2022.94	42	chr5	55916795	.	GA	G	2022.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.904e+00;DP=883;ExcessHet=0.0000;FS=4.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.06;ReadPosRankSum=0.879;SOR=0.413	GT:AD:DP:GQ:PL	0/1:61,65:126:99:2037,0,1901	20	0	1	0
chr5	59430382	59430382	C	G	exonic	PDE4D	.	nonsynonymous SNV	PDE4D:NM_001349242:exon3:c.G37C:p.G13R,	Acrodysostosis 2, with or without hormone resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.853e-06	1.368e-06	3.511e-06	0	0.0003	3.1e-07	1.2e-07	.	.	4.358e-05	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22856304	0.39763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008984	0.08212	T	.	.	.	.	.	.	.	.	.	0.608539	0.22995	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.37044	B	.	.	3.760862	0.53966	23.4	0.68507996171951779	0.08679	0.93699	0.58939	D	AEFDI	.	.	.	.	.	.	.	.	.	0.999999867651624	0.74766	0.07523	0.01759	0	0.109994	0.03358	0	0.065499	0.01848	0	0.062806	0.01542	0	0.97756	0.81275	5.32	5.32	0.75377	3.970000	0.56530	3.902000	0.40356	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9277:0.0:0.0723	14.475	0.67120	761	0.50382	.	.	.	.	.	.	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	1104.98	35	chr5	59430382	.	C	G	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=856;ExcessHet=0.0000;FS=1.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.04;ReadPosRankSum=6.000e-03;SOR=0.831	GT:AD:DP:GQ:PL	0/1:105,52:157:99:1119,0,2548	20	0	1	0
chr5	60771922	60771922	G	C	exonic	ELOVL7	.	nonsynonymous SNV	ELOVL7:NM_001104558:exon3:c.C236G:p.S79C	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	2.375	M	0.71	T	-0.412	T	0.341	T	0.919	4.423	23.5	5.73	2.868	9.388	20.279	0.681	0.0613547569781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs368309905	6.851e-07	6.84e-07	1.363e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.45	0.71042	M	0.71	0.51228	T	-4.82	0.81107	D	0.919	0.92200	-0.4118	0.71653	T	0.341	0.70713	T	10	0.91465944	0.90828	D	0.061355	0.68304	D	0.681	0.88300	0.774	0.90002	0.610589977033	0.60745	0.7475018586076664	0.74696	0.676802285866	0.59796	0.628733038902	0.56965	T	0.205654	0.56477	T	0.304053	0.83289	D	0.198975	0.83072	D	0.998110771179199	0.93268	D	0.838216	0.51127	T	0.84997267	0.87333	0.69183075	0.81863	0.84997267	0.87335	0.69183075	0.81864	-9.27	0.69419	D	.	.	0.548	0.66743	A	.;.;.;.;.	.;.;.;.;.	5.119921	0.85627	28.7	0.99445181225394774	0.64971	0.99366	0.95088	D	AEFBI	0.941110	0.94395	D	0.93457361501928	0.93347	11.97975	0.920281621337817	0.96398	14.64769	0.999999989364752	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.73	5.73	0.89730	9.561000	0.97256	11.884000	0.98910	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	20.279	0.98503	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	967.98	35	chr5	60771922	.	G	C	967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.243;DP=783;ExcessHet=0.0000;FS=3.833;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=-1.767e+00;SOR=0.411	GT:AD:DP:GQ:PL	0/1:59,41:100:99:982,0,1495	20	0	1	0
chr5	73753050	73753050	A	G	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001080479:exon4:c.A323G:p.N108S	.	.	432	1076	14	0	0	14	0.00646353	.	.	795718	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.044	B	0.009	B	.	.	1.000	N	0	N	3.27	T	-0.974	T	0.012	T	0.027	0.614	7.303	3.29	0.899	1.189	6.603	0.038	.	0.0030	0.00259585	0.0037	0.0010	0.0024	0	0.0116	0.0033	0.0067	0.0066	0.003053	472	154602	rs202122468	0.0034	0.0034	0.0034	0.0035	0.0059	0.0033	0.0033	0.0054	0.0053	0.0006	0.0027	0.0010	5.048e-05	0.0093	0.0026	0.0033	0.0032	0.0059	0.0030	0.0030	0.0026	0.0035	0.0044	0.0028	0.0027	0.0029	0.0028	0.0007	0	0.0024	0.0006	0.0002	0.0132	0.0068	0.0033	0.0028	0.0044	0.153	0.25355	T	0.356	0.17425	T	0.044	0.21686	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	3.27	0.06602	T	-0.23	0.10656	N	0.057	0.07811	-0.9739	0.36366	T	0.012	0.04747	T	9	0.0034273565	0.00060	T	.	.	.	0.038	0.09825	.	.	0.158396225186	0.15383	0.17245385209297553	0.17165	0.0583961131483	0.06474	0.27519595623	0.06831	T	0.004213	0.03621	T	-0.692941	0.00040	T	-0.766219	0.02894	T	0.00566671547338331	0.00062	T	0.758124	0.38180	T	0.0405561	0.05810	0.04987137	0.07710	0.0405561	0.05810	0.04987137	0.07710	-1.874	0.02739	T	.	.	0.065	0.03479	B	.;.;.;.;.	.;.;.;.;.	1.794752	0.22813	15.77	0.90784544201720663	0.20033	0.04976	0.10745	N	AEFGBI	0.043377	0.06850	N	-0.785594730364349	0.13685	0.6759337	-0.712317549567663	0.16655	0.8820444	0.984326989418703	0.30699	0.67177	0.52595	0	0.546412	0.12157	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.82	3.29	0.36801	1.239000	0.32322	2.835000	0.35045	0.756000	0.94297	0.020000	0.19661	0.396000	0.24688	0.209000	0.22154	0.6216:0.0:0.3784:0.0	6.603	0.21907	954	0.10045	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5629.11	33	chr5	73753050	.	A	G	5629.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.680e-01;DP=1079;ExcessHet=0.1072;FS=1.097;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=0.796;SOR=0.609	GT:AD:DP:GQ:PL	0/1:90,115:205:99:2896,0,2297	19	0	2	0
chr5	78985128	78985136	CCCCGGCGC	-	exonic	ARSB	.	nonframeshift deletion	ARSB:NM_000046:exon1:c.113_121del:p.G38_G40del	Mucopolysaccharidosis type VI (Maroteaux-Lamy), Autosomal recessive	.	3	1490	29	0	0	29	0.00963775	.	.	487184	not_specified|not_provided|Mucopolysaccharidosis_type_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009661,MedGen:C0026709,OMIM:253200,Orphanet:583	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0039	0	0.0003	0	0	0.0004	0.0071	0.0193	0.0012548	194	154602	rs550086186	0.0008	0.0008	0.0004	0.0011	0.0124	0.0007	0.0007	0.0117	0.0115	0	0	0	3.291e-05	0	0.0036	6.793e-05	0.0009	0.0124	0.0005	0.0005	0.0002	0.0008	0.0139	0.0004	0.0004	0.0112	0.0102	2.409e-05	0	6.547e-05	0	0	0	0	5.892e-05	0.0009	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1224.94	34	chr5	78985127	.	GCCCCGGCGC	G	1224.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.472;DP=774;ExcessHet=0.0000;FS=2.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.28;ReadPosRankSum=1.02;SOR=1.041	GT:AD:DP:GQ:PL	0/1:35,32:67:99:1239,0,1373	20	0	1	0
chr5	79737121	79737121	T	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.T8356C:p.F2786L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.307	B	0.06	B	0.477	N	1.000	N	0.895	L	1.34	T	-1.052	T	0.048	T	0.062	0.785	8.138	-1.25	-0.073	0.529	4.559	0.022	0.00429156060246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.027e-05	0.0012	1.322e-05	7.332e-06	6.329e-05	5.96e-06	4.66e-06	1.048e-05	4.22e-06	6.329e-05	0	0	0	0	0	1.076e-05	0	1.189e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.535	0.09931	T	0.307	0.32716	B	0.06	0.26717	B	0.477143	0.12208	N	0.730444	1	0.08975	N	0.55	0.14455	N	1.34	0.34841	T	-0.47	0.15178	N	0.068	0.04072	-1.0516	0.13954	T	0.048	0.20553	T	10	0.045761734	0.03686	T	0.004292	0.10404	T	0.022	0.04323	0.101	0.01536	0.0611884634855	0.05136	0.02498130375506089	0.02449	0.0683822844331	0.07654	0.305985629559	0.11300	T	0.019747	0.15676	T	-0.330161	0.06099	T	-0.71203	0.05191	T	0.0498282739417066	0.05471	T	0.564244	0.19889	T	0.05796542	0.11602	0.06227273	0.12156	0.05796542	0.11601	0.06227273	0.12155	-3.668	0.18847	T	.	.	0.511	0.65065	A	.	.	0.546264	0.09146	5.931	0.91598307684938896	0.20881	0.01020	0.03837	N	AEFBI	0.024890	0.01614	N	-0.86627449370109	0.11652	0.56346	-0.947118491995255	0.10990	0.5571424	0.997221251754495	0.35393	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.75	-1.25	0.08920	0.156000	0.16200	0.233000	0.16214	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.3042:0.3133:0.3826	4.559	0.11546	419	0.81524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	140.72	97	chr5	79737121	.	T	C	140.72	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.679e+00;DP=1715;ExcessHet=1.1607;FS=178.575;InbreedingCoeff=-0.1308;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=1.09;SOR=10.961	GT:AD:DP:GQ:PL	0/1:81,19:100:2:2,0,1789	16	0	5	0
chr5	88206475	88206475	G	A	exonic	TMEM161B	.	nonsynonymous SNV	TMEM161B:NM_001349405:exon5:c.C77T:p.A26V	.	.	713	803	6	0	0	6	0.00372208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.202	B	0.034	B	0.000	D	1.000	D	2.11	M	.	.	-0.795	T	0.171	T	0.793	2.697	14.98	5.51	2.596	6.983	19.422	0.165	0.0072665829932	0.0057	0.00219649	0.0051	0.0019	0.0022	0	0.0008	0.0077	0.0046	0.0051	0.0041073	635	154602	rs62369771	0.0066	0.0067	0.0066	0.0066	0.0076	0.0065	0.0064	0.0075	0.0075	0.0008	0.0024	0.0024	2.541e-05	0.0014	0.0064	0.0076	0.0063	0.0047	0.0043	0.0043	0.0046	0.0040	0.0073	0.0040	0.0039	0.0068	0.0066	0.0012	0.0055	0.0035	0.0023	0.0002	0.0001	0	0.0073	0.0058	0.0048	0.417	0.25055	T	0.419	0.30143	T	0.202	0.29746	B	0.034	0.22546	B	0.000001	0.84330	D	0.095843	1	0.81001	D	2.33	0.66821	M	.	.	.	-1.89	0.44094	N	0.653	0.66358	-0.7949	0.55444	T	0.171	0.51181	T	9	0.008586347	0.00194	T	0.007267	0.19280	T	0.165	0.42395	.	.	0.0884992946249	0.08302	0.6433211322886058	0.64267	0.248921944762	0.27465	0.683779478073	0.64812	T	0.014186	0.23310	T	-0.117284	0.33568	T	0.0635991	0.74484	D	0.0249990377957096	0.01273	T	0.849515	0.54741	T	0.2779578	0.50851	0.28916922	0.54936	0.2779578	0.50851	0.28916922	0.54935	-7.777	0.59540	D	.	.	0.139	0.49711	B	.;.;.;.;.;.	.;.;.;.;.;.	3.362878	0.46435	22.3	0.97995278038187272	0.37431	0.99117	0.91475	D	AEFBI	0.870694	0.79176	D	0.111682650628339	0.47007	2.932562	0.27609114928051	0.54148	3.581	0.999999602734535	0.74766	0.554377	0.28877	0	0.601575	0.49859	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.51	5.51	0.81769	7.345000	0.78576	10.003000	0.83052	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.422	0.94717	767	0.49651	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	790.68	33	chr5	88206475	.	G	A	790.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.641;DP=614;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=0.134;SOR=0.653	GT:AD:DP:GQ:PL	0/1:9,13:22:99:298,0,174	18	0	3	0
chr5	113488342	113488342	-	GCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.72_73insGGC:p.S24_S25insG,	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0051	0.0015	0.0020	0	0.0005	0.0020	0.0044	0.0021345	330	154602	rs775732898	0.0008	0.0011	0.0009	0.0008	0.0099	0.0008	0.0008	0.0089	0.0085	0.0099	0.0024	0.0002	9.69e-05	0.0001	0.0026	0.0006	0.0016	0.0006	0.0034	0.0034	0.0034	0.0034	0.0095	0.0032	0.0031	0.0087	0.0084	0.0095	0	0.0045	0	0.0006	9.529e-05	0.0103	0.0006	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55421.17	118	chr5	113488342	.	T	C,TGCTGCTGCC,TGCC	55421.17	.	AC=27,7,1;AF=0.643,0.167,0.024;AN=42;BaseQRankSum=-1.446e+00;DP=2966;ExcessHet=2.5830;FS=1.369;InbreedingCoeff=-0.2000;MLEAC=27,7,1;MLEAF=0.643,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.98;ReadPosRankSum=-1.100e-02;SOR=0.803	GT:AD:DP:GQ:PL	0/1:52,65,0,0:117:99:1486,0,1287,1643,1482,3124,1643,1482,3124,3124	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	0/1:25,36,0:61:99:1322,0,927,1398,1035,2434	3	5	12	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.003	B	0.004	B	0.207	N	0.988	N	0.55	N	-1.75	D	-0.897	T	0.264	T	0.158	2.319	13.71	-0.052	0.043	0.698	4.261	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	785.45	37	chr5	119499449	.	T	C	785.45	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-2.748e+00;DP=1279;ExcessHet=2.5830;FS=149.385;InbreedingCoeff=-0.1971;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=1.58;SOR=9.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,20:83:40:0|1:119499447_G_C:40,0,1955:119499447	14	0	7	0
chr5	132660267	132660267	G	T	exonic	IL13	.	nonsynonymous SNV	IL13:NM_002188:exon4:c.G426T:p.E142D	.	.	423	1096	2	1	0	4	0.00182149	.	.	3274824	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.001	B	0.013	N	1.000	N	-0.205	N	0.98	T	-1.047	T	0.044	T	0.133	0.923	8.757	-8.72	-2.032	-3.401	10.314	0.018	0.00141498857204	.	.	7.421e-05	0	0	0	0	1.5e-05	0	0.0005	5.82e-05	9	154602	rs200247901	5.61e-05	5.678e-05	3.267e-05	7.976e-05	0.0006	4.61e-05	4.237e-05	0.0005	0.0004	0	2.237e-05	0	0	0	0.0003	1.079e-05	0.0002	0.0006	3.283e-05	3.281e-05	2.57e-05	4.027e-05	0.0004	1.26e-05	7.97e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0004	0.263	0.16412	T	0.375	0.16231	T	.	.	.	.	.	.	0.012853	0.01347	N	2.726190	1	0.08975	N	.	.	.	0.98	0.42122	T	-0.66	0.19085	N	0.046	0.01825	-1.0474	0.15130	T	0.044	0.18989	T	10	0.018843383	0.00414	T	0.001415	0.02088	T	0.018	0.03083	0.156	0.05964	0.0846915920261	0.08053	0.091215448853235	0.09054	0.122369866137	0.13789	0.326947391033	0.14472	T	.	.	.	-0.549821	0.00292	T	-0.699596	0.05848	T	0.10210024667692	0.12587	T	0.291871	0.05342	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.25946	B	.;.	.;.	-2.629487	0.00023	0.001	0.8178646808605653	0.13859	0.01197	0.04272	N	AEFGBCI	0.021014	0.00891	N	-1.86363704774965	0.00407	0.01751439	-1.94980623946328	0.00389	0.01719712	0.999999986970048	0.74766	0.428477	0.06694	0	0.587068	0.34093	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.36	-8.72	0.00731	-3.377000	0.00546	-20.000000	0.00162	-0.392000	0.05338	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6277:0.2182:0.1541	10.314	0.42907	882	0.29131	.;.	.	.	.	.	.	Uncertain significance	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	1513.98	61	chr5	132660267	.	G	T	1513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=1167;ExcessHet=0.0000;FS=1.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=0.590;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,60:119:99:0|1:132660267_G_T:1528,0,2242:132660267	20	0	1	0
chr5	132864353	132864353	G	C	exonic	GDF9	.	nonsynonymous SNV	GDF9:NM_005260:exon1:c.C181G:p.L61V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.9	P	0.343	B	0.004	N	1.000	N	2.52	M	0.19	T	-0.826	T	0.190	T	0.072	2.169	13.21	3.18	0.380	2.346	6.399	0.148	0.0193298004431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.099	0.38891	T	0.9	0.49598	P	0.343	0.42509	B	0.003935	0.34318	N	0.311977	0.999995	0.08975	N	2.42	0.70002	M	0.19	0.60236	T	-0.72	0.20358	N	0.157	0.16308	-0.8257	0.53575	T	0.190	0.54108	T	10	0.2955783	0.47126	T	0.01933	0.41663	T	0.148	0.39182	0.377	0.39156	0.708705863831	0.70616	0.19792167272459063	0.19709	0.0415351482305	0.04460	0.339318692684	0.16335	T	0.456861	0.79546	T	-0.199135	0.20931	T	-0.52382	0.19909	T	0.453734338283539	0.30934	T	0.566043	0.20025	T	0.07196072	0.15972	0.080344625	0.18168	0.07196072	0.15972	0.080344625	0.18167	-3.41	0.15191	T	.	.	0.077	0.06295	B	.	.	2.312643	0.29604	18.18	0.99155670109324467	0.53931	0.89090	0.49350	D	AEFDBI	0.238694	0.36078	N	0.0574970633272622	0.44489	2.721939	0.0374256184061307	0.41469	2.491804	0.99991686312002	0.45857	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.02	3.18	0.35615	2.648000	0.46313	4.521000	0.43687	-0.140000	0.12423	1.000000	0.71638	1.000000	0.68203	0.534000	0.29800	0.2177:0.1305:0.6517:0.0	6.399	0.20829	902	0.24074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	95.45	33	chr5	132864353	.	G	C	95.45	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.919e+00;DP=1050;ExcessHet=0.3300;FS=217.816;InbreedingCoeff=-0.0678;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.32;ReadPosRankSum=1.30;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,13:107:3:.:.:3,0,3483	18	0	3	0
chr5	135446471	135446471	G	A	exonic	DCANP1	.	nonsynonymous SNV	DCANP1:NM_130848:exon1:c.C638T:p.T213I,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.4	B	0.118	B	.	.	1.000	N	0	N	1.21	T	-1.039	T	0.040	T	0.08	0.059	4.323	0.535	0.084	0.467	5.249	0.044	0.00702022922797	.	0.000399361	0.0002	0	8.639e-05	0	0	0	0	0.0011	0.0001358	21	154602	rs531198567	9.031e-05	9.029e-05	5.037e-05	0.0001	0.0011	7.757e-05	7.3e-05	0.0010	0.0009	0	4.472e-05	0	0	0	0	2.248e-05	9.938e-05	0.0011	2.626e-05	2.624e-05	3.853e-05	1.342e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	.	.	.	.	.	.	0.4	0.34852	B	0.118	0.32088	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.21	0.37230	T	-5.25	0.84035	D	0.065	0.03726	-1.0394	0.17495	T	0.040	0.17277	T	9	0.011543781	0.00252	T	0.00702	0.18594	T	0.044	0.11924	0.163	0.06730	0.0297737177859	0.01360	0.0014563695207016243	0.00134	0.0454073510886	0.04925	.	.	.	0.048063	0.27906	T	-0.608404	0.00130	T	-0.692258	0.06260	T	0.0875162261901039	0.10919	T	0.332167	0.06971	T	0.30386475	0.53249	0.16373281	0.37966	0.30386475	0.53249	0.16373281	0.37965	-4.138	0.25848	T	.	.	0.292	0.52318	B	.	.	1.176151	0.15662	12.01	0.45837588787108879	0.03627	0.03251	0.08277	N	AEFDBI	0.047817	0.08093	N	-1.07923910788671	0.07026	0.325207	-1.14916151222811	0.06783	0.3276759	0.90825749884406	0.26280	0.497415	0.19182	0	0.491513	0.07743	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	3.31	0.535	0.16326	0.473000	0.21843	1.652000	0.27851	-0.169000	0.11342	0.001000	0.13787	0.036000	0.21445	0.001000	0.02609	0.3957:0.0:0.6043:0.0	5.249	0.14827	603	0.67726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2384.98	38	chr5	135446471	.	G	A	2384.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=949;ExcessHet=0.0000;FS=1.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=0.201;SOR=0.556	GT:AD:DP:GQ:PL	0/1:94,93:187:99:2399,0,2356	20	0	1	0
chr5	136055734	136055734	G	C	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon11:c.G1465C:p.G489R,	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.585	M	-3.45	D	-0.056	T	0.520	D	0.87	5.213	33	6.17	2.941	9.807	20.879	0.428	0.189405449353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.044637	1	0.81001	D	1.96	0.53105	M	-3.45	0.94469	D	-6.13	0.90100	D	0.863	0.85979	-0.0558	0.81083	T	0.520	0.82072	D	10	0.9899493	0.99479	D	0.189405	0.86060	D	0.754	0.91583	0.946	0.99325	0.97030895582	0.96999	0.9698763578687539	0.96975	0.0693150109517	0.07761	0.685180604458	0.65013	T	0.947327	0.99215	D	0.464101	0.93103	D	0.428873	0.93017	D	0.993617653846741	0.84484	D	0.927407	0.73262	D	0.98231125	0.99281	0.9520083	0.98520	0.98231125	0.99281	0.9520083	0.98520	-13.06	0.89609	D	0.7900606666327733	0.86863	0.972	0.89712	P	.	.	4.805309	0.78123	26.8	0.99937694532275989	0.99661	0.98378	0.82168	D	AEFBCI	0.983495	0.99926	D	0.677080024351857	0.78131	6.810037	0.741768832391626	0.85540	8.611375	1.0	0.98316	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	9.940000	0.98890	11.878000	0.98757	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.838000	0.39538	0.0:0.0:1.0:0.0	20.879	0.99870	775	0.48401	FAS1 domain|FAS1 domain|FAS1 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	1822.98	37	chr5	136055734	.	G	C	1822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.849;DP=881;ExcessHet=0.0000;FS=1.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-1.117e+00;SOR=0.898	GT:AD:DP:GQ:PL	0/1:55,76:131:99:1837,0,1139	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	0/1:89,27:123:99:.:.:211,0,2744	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	0/1:89,34,0:123:99:.:.:273,0,2739,538,2836,3374	9	0	7	2
chr5	140786949	140786949	C	A	exonic	PCDHA1	.	nonsynonymous SNV	PCDHA1:NM_018900:exon1:c.C659A:p.P220Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.001	U	1.000	D	4.07	H	0.51	T	0.388	D	0.500	T	0.618	3.482	17.82	4.19	2.059	7.724	16.871	0.478	0.0644882458768	0.0009	0.000599042	0.0003	0.0019	0.0003	0	0	0.0002	0.0011	0	0.0002523	39	154602	rs149577981	0.0002	0.0002	0.0002	0.0001	0.0026	0.0001	0.0001	0.0022	0.0020	0.0026	0.0007	0	0	0	0.0010	7.554e-05	0.0003	1.159e-05	0.0010	0.0010	0.0009	0.0011	0.0027	0.0009	0.0008	0.0023	0.0022	0.0027	0	0.0017	0	0	0	0.0034	7.35e-05	0.0024	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000661	0.42656	U	0.000000	0.999419	0.49637	D	3.985	0.96662	H	0.51	0.55439	T	-7.52	0.95511	D	0.635	0.80572	0.388	0.88909	D	0.500	0.81091	T	10	0.10058892	0.18328	T	0.064488	0.69294	D	0.478	0.76946	.	.	0.871671135437	0.87042	0.2652070297385214	0.26433	0.971337437332	0.73375	.	.	.	0.427812	0.77716	T	-0.224236	0.17419	T	-0.100424	0.63365	T	0.258169126413849	0.23235	T	0.991581	0.97347	D	0.8010245	0.83971	0.8099672	0.88898	0.8010245	0.83972	0.8099672	0.88898	-10.702	0.78140	D	.	.	0.324	0.63100	B	.;.;.	.;.;.	4.370399	0.67286	25.1	0.99057717882984875	0.51413	0.99508	0.96874	D	AEFDBI	0.878409	0.80366	D	0.864117441316384	0.89897	10.16432	0.699167843085057	0.82313	7.736776	0.999999998811577	0.74766	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.19	4.19	0.48645	7.903000	0.86133	.	.	0.599000	0.40250	1.000000	0.71638	0.968000	0.29604	0.980000	0.58198	0.0:1.0:0.0:0.0	16.871	0.85906	19	0.98577	.;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2636.98	36	chr5	140786949	.	C	A	2636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=920;ExcessHet=0.0000;FS=6.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=0.512;SOR=0.434	GT:AD:DP:GQ:PL	0/1:116,101:217:99:2651,0,2963	20	0	1	0
chr5	140842421	140842421	C	T	exonic	PCDHA8	.	nonsynonymous SNV	PCDHA8:NM_018911:exon1:c.C1100T:p.T367I	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.945	D	0.002	U	1.000	N	2.395	M	0.35	T	-0.343	T	0.329	T	0.7	4.532	24.4	3.57	1.709	3.194	15.579	0.398	0.0266040147946	0.001	0.000599042	0.0003	0.0019	0.0003	0	0	0.0002	0.0011	0	0.0002717	42	154602	rs142074942	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0002	0.0022	0.0021	0.0027	0.0007	0	0	3.745e-05	0.0023	0.0001	0.0003	1.159e-05	0.0010	0.0010	0.0009	0.0011	0.0027	0.0009	0.0008	0.0023	0.0022	0.0027	0	0.0017	0	0	0	0.0034	8.826e-05	0.0024	0	0.006	0.61437	D	0.01	0.70582	D	0.993	0.67487	D	0.942	0.68163	D	0.001964	0.37549	U	0.000000	1	0.81001	D	3.31	0.90591	M	0.35	0.58029	T	-5.73	0.87611	D	0.641	0.65416	-0.3429	0.73759	T	0.329	0.69674	T	10	0.13645485	0.25963	T	0.026604	0.49502	D	0.398	0.71242	.	.	0.767570153291	0.76544	0.46623142669597106	0.46542	.	.	.	.	.	0.089133	0.38307	T	-0.219384	0.18078	T	-0.0934538	0.63901	T	0.0698950236669835	0.08636	T	0.864814	0.56255	D	0.5285738	0.68750	0.5590209	0.74488	0.5285738	0.68751	0.5590209	0.74488	-11.176	0.81246	D	.	.	0.277	0.51050	B	.;.	.;.	3.481322	0.48618	22.6	0.99821457333126595	0.90414	0.89902	0.50675	D	AEFDGBCI	0.466319	0.51402	N	0.293513188981482	0.55819	3.746027	0.134735302186989	0.46336	2.881423	0.961409727576456	0.28552	0.553676	0.25195	0	0.588015	0.36545	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	3.57	3.57	0.40014	2.700000	0.46753	.	.	0.465000	0.21702	0.981000	0.35396	0.000000	0.08366	0.037000	0.13953	0.0:1.0:0.0:0.0	15.579	0.76157	32	0.98147	.;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	5106.98	158	chr5	140842421	.	C	T	5106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.370e-01;DP=2322;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.59;MQRankSum=0.025;QD=12.13;ReadPosRankSum=-6.940e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/1:223,198:421:99:5121,0,6014	20	0	1	0
chr5	141096081	141096081	C	A	exonic	PCDHB2	.	nonsynonymous SNV	PCDHB2:NM_018936:exon1:c.C1291A:p.P431T,	.	.	407	1061	53	1	0	55	0.0252641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	0.998	D	4.155	H	0.47	T	0.210	D	0.416	T	0.73	2.250	13.48	5.11	2.542	2.396	14.595	0.365	.	0.0038	0.00958466	0.0089	0.0003	0.0015	0.0003	0.0038	0.0050	0.0110	0.0421	0.0078977	1221	154602	rs116177548	0.0061	0.0061	0.0049	0.0073	0.0403	0.0060	0.0059	0.0392	0.0388	0.0010	0.0013	0.0061	0.0003	0.0030	0.0135	0.0040	0.0072	0.0403	0.0042	0.0043	0.0038	0.0047	0.0396	0.0040	0.0039	0.0350	0.0332	0.0009	0	0.0028	0.0063	0.0008	0.0039	0.0170	0.0043	0.0038	0.0396	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.998288	0.44722	D	4.53	0.99067	H	0.47	0.56114	T	-7.69	0.95603	D	0.109	0.09490	0.210	0.86076	D	0.416	0.76272	T	9	0.0071762204	0.00163	T	.	.	.	0.365	0.68495	.	.	0.612105117874	0.60898	0.40462831523539394	0.40378	.	.	0.502436220646	0.39167	T	0.168583	0.51564	T	-0.205426	0.20028	T	-0.0371565	0.67893	D	0.0867931227568148	0.10833	T	0.89531	0.63576	D	0.6614294	0.75975	0.67982537	0.81189	0.6614294	0.75976	0.67982537	0.81190	-12.058	0.85132	D	.	.	0.311	0.53838	B	.	.	3.332482	0.45886	22.2	0.99748695843572432	0.84077	0.94566	0.61582	D	AEFBI	0.362501	0.45174	N	0.709339028336467	0.80246	7.251683	0.535182317702874	0.70373	5.49572	0.999973434895134	0.50053	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	5.11	5.11	0.69188	2.517000	0.45189	.	.	0.599000	0.40250	0.824000	0.30046	0.964000	0.29435	0.076000	0.17014	0.1465:0.8535:0.0:0.0	14.595	0.67990	461	0.78683	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	9088.11	33	chr5	141096081	.	C	A	9088.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.10;DP=2166;ExcessHet=0.1072;FS=0.522;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.60;MQRankSum=2.78;QD=11.62;ReadPosRankSum=2.04;SOR=0.629	GT:AD:DP:GQ:PL	0/1:218,178:396:99:4374,0,5502	19	0	2	0
chr5	141122851	141122851	G	C	exonic	PCDHB4	.	nonsynonymous SNV	PCDHB4:NM_018938:exon1:c.G853C:p.D285H,	.	.	416	1054	51	1	0	53	0.0245257	.	.	698863	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.592	P	0.824	P	.	.	0.996	D	1.41	L	-0.19	T	-0.439	T	0.277	T	0.31	2.719	15.05	4.41	2.449	1.433	17.554	0.163	.	0.0037	0.00958466	0.0091	0.0003	0.0015	0.0003	0.0038	0.0050	0.0111	0.0425	0.0078524	1214	154602	rs149340599	0.0061	0.0061	0.0049	0.0073	0.0409	0.0060	0.0060	0.0398	0.0393	0.0010	0.0013	0.0061	0.0003	0.0030	0.0139	0.0040	0.0072	0.0409	0.0042	0.0042	0.0038	0.0047	0.0402	0.0040	0.0039	0.0356	0.0338	0.0009	0	0.0028	0.0063	0.0008	0.0038	0.0170	0.0043	0.0038	0.0402	0.002	0.72154	D	0.052	0.47581	T	0.592	0.39119	P	0.824	0.59271	P	.	.	.	.	0.995638	0.42782	D	0.975	0.24501	L	-0.19	0.65931	T	-2.03	0.46673	N	0.132	0.12770	-0.4390	0.70763	T	0.277	0.64896	T	9	0.0023590326	0.00035	T	.	.	.	0.163	0.42028	.	.	0.624762870363	0.62171	0.18137512757830604	0.18056	.	.	0.355227172375	0.18689	T	0.027262	0.20004	T	-0.419304	0.01728	T	-0.344377	0.39848	T	0.0769435884720714	0.09592	T	0.70183	0.31167	T	0.4089323	0.61346	0.5137543	0.71903	0.4089323	0.61346	0.5137543	0.71904	-6.845	0.52893	T	.	.	0.115	0.23113	B	.	.	3.029406	0.40572	21.2	0.99417549142401851	0.63597	0.69254	0.34115	D	AEFBI	0.313196	0.41842	N	0.117199949162578	0.47266	2.954661	0.076161419448437	0.43353	2.63879	0.461169955851713	0.20625	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.41	4.41	0.52588	0.765000	0.26211	.	.	0.590000	0.31872	0.000000	0.06391	0.931000	0.28545	0.993000	0.69303	0.0:0.0:1.0:0.0	17.554	0.87781	520	0.74355	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	2166.11	104	chr5	141122851	.	G	C	2166.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.065e+00;DP=1646;ExcessHet=0.1072;FS=1.151;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-2.400e-02;SOR=0.731	GT:AD:DP:GQ:PL	0/1:44,37:81:99:941,0,1329	19	0	2	0
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	0/1:141,34,0:183:99:.:.:120,0,2961,609,3368,4789	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	0/1:141,34,0:183:99:.:.:120,0,2961,609,3368,4789	5	0	5	9
chr5	141211069	141211069	C	G	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.C2162G:p.P721R,	.	.	372	1101	46	3	0	52	0.0230701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.061	B	0.034	B	.	.	1.000	N	1.175	L	0.85	T	-1.033	T	0.067	T	0.119	0.832	8.354	1.7	0.128	0.784	7.747	0.029	.	0.0038	0.0071885	0.0088	0.0005	0.0016	0.0004	0.0044	0.0057	0.0122	0.0369	0.0075872	1173	154602	rs150562956	0.0073	0.0073	0.0061	0.0084	0.0377	0.0071	0.0071	0.0366	0.0361	0.0009	0.0020	0.0033	0.0003	0.0040	0.0149	0.0058	0.0070	0.0377	0.0054	0.0054	0.0048	0.0060	0.0367	0.0051	0.0049	0.0323	0.0306	0.0009	0	0.0040	0.0032	0.0004	0.0047	0.0068	0.0069	0.0047	0.0367	0.004	0.65419	D	0.387	0.16280	T	0.061	0.23190	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	0.85	0.47130	T	-0.21	0.10308	N	0.05	0.02179	-1.0327	0.19586	T	0.067	0.27640	T	9	0.0026969314	0.00042	T	.	.	.	0.029	0.06676	.	.	0.456275507713	0.45249	0.09963175427583046	0.09894	0.22973312364	0.25525	0.573936104774	0.49234	T	0.001056	0.00580	T	-0.60379	0.00138	T	-0.613619	0.11692	T	0.00680642899000506	0.00077	T	0.250275	0.12411	T	0.07188258	0.15949	0.06356104	0.12609	0.07188258	0.15948	0.06356104	0.12609	-4.549	0.32559	T	.	.	0.091	0.13032	B	.;.	.;.	1.141436	0.15289	11.74	0.86655142440817323	0.16682	0.05152	0.10965	N	AEFDBI	0.065858	0.12867	N	-0.900844477447111	0.10823	0.5191038	-0.962757534171288	0.10628	0.5365001	0.0019811220922222	0.09061	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	3.67	1.7	0.23359	0.519000	0.22570	.	.	0.328000	0.19510	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2725:0.3123:0.4152:0.0	7.747	0.28043	692	0.58729	.;Cadherin, cytoplasmic C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1903.98	61	chr5	141211069	.	C	G	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e-01;DP=1250;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.46;ReadPosRankSum=-9.880e-01;SOR=0.658	GT:AD:DP:GQ:PL	0/1:100,82:184:99:1918,0,2393	20	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.941	N	1.000	N	-1.57	N	-1.1	T	-1.019	T	0.099	T	0.051	-1.282	0.042	-1.96	-0.413	0.139	0.421	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:153,50,8:211:99:.:.:999,0,3836,738,4208,6388	1	0	13	5
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.021	B	0.039	B	0.941	N	1.000	N	0.65	N	-1.23	T	-0.928	T	0.215	T	0.091	-0.151	3.259	-1.96	-0.413	0.139	0.421	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:153,50,8:211:99:.:.:999,0,3836,738,4208,6388	1	0	13	5
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.031	B	0.072	B	0.002	N	0.665	D	2.66	M	-1.43	T	-0.297	T	0.436	T	0.223	1.515	11.02	1.42	0.324	2.506	6.656	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	15997.73	187	chr5	141303081	.	A	G	15997.73	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.670e+00;DP=4433;ExcessHet=43.6797;FS=223.742;InbreedingCoeff=-0.9170;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.87;ReadPosRankSum=0.595;SOR=14.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:166,52:218:99:.:.:665,0,5635	1	0	20	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	0/1:202,62:264:99:167,0,4446	6	0	15	0
chr5	146171959	146171959	T	C	exonic	LARS1	.	nonsynonymous SNV	LARS1:NM_001317965:exon3:c.A83G:p.K28R	.	.	437	1074	9	2	0	13	0.00601573	.	.	141780	not_provided|not_specified|Infantile_liver_failure_syndrome_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0024568,MedGen:C3809522,OMIM:615438,Orphanet:370088	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.788	P	0.335	B	0.000	D	1.000	D	1.97	M	-1.05	T	-0.346	T	0.322	T	0.178	3.093	16.33	5.54	2.101	4.697	15.680	0.349	.	0.0037	0.00299521	0.0050	0.0012	0.0027	0.0001	0.0015	0.0055	0.0066	0.0111	0.0050517	781	154602	rs112954500	0.0057	0.0057	0.0055	0.0059	0.0103	0.0056	0.0056	0.0097	0.0095	0.0007	0.0031	0.0019	2.522e-05	0.0020	0.0061	0.0061	0.0060	0.0103	0.0038	0.0038	0.0041	0.0036	0.0075	0.0036	0.0035	0.0055	0.0053	0.0011	0	0.0033	0.0035	0	0.0025	0.0034	0.0060	0.0033	0.0075	0.175	0.22486	T	0.115	0.36901	T	0.004	0.12183	B	0.09	0.29851	B	0.000000	0.84330	D	0.045928	0.999934	0.81001	D	1.87	0.49600	L	-1.05	0.76690	T	-2.2	0.49519	N	0.582	0.72925	-0.3456	0.73681	T	0.322	0.69064	T	10	0.010404259	0.00232	T	.	.	.	0.349	0.67049	.	.	0.714101545948	0.71159	0.6134425457156343	0.61276	0.185243997901	0.20827	0.564296662807	0.47874	T	0.175937	0.52570	T	-0.369996	0.03594	T	-0.296431	0.45101	T	0.0155940450330543	0.00356	T	0.79572	0.43953	T	0.22997892	0.45745	0.19366084	0.42948	0.26109782	0.49167	0.18891732	0.42207	-9.095	0.68305	D	0.2299780390205727	0.31114	0.071	0.04889	B	.;.;.	.;.;.	3.251490	0.44425	21.9	0.99693564151083824	0.80112	0.98629	0.84891	D	AEFBI	0.457668	0.50901	N	0.21524862825499	0.51938	3.371338	0.32198833956274	0.56833	3.847441	0.999738692345606	0.42341	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	4.678000	0.61331	7.691000	0.65788	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.680	0.77120	855	0.34697	Aminoacyl-tRNA synthetase, class Ia;.;Aminoacyl-tRNA synthetase, class Ia	.	.	.	.	.	Likely benign	0	0	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	633.98	33	chr5	146171959	.	T	C	633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.030e-01;DP=748;ExcessHet=0.0000;FS=2.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=0.347;SOR=0.400	GT:AD:DP:GQ:PL	0/1:27,26:53:99:648,0,693	20	0	1	0
chr5	149621740	149621740	G	A	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon9:c.G1013A:p.R338Q,	.	.	419	1033	67	3	0	73	0.0341281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.867	P	0.4	B	0.000	N	1.000	D	2.595	M	-0.06	T	-0.553	T	0.282	T	0.533	4.331	22.8	5.31	1.634	6.692	15.280	0.287	.	0.0017	0.00239617	0.0035	0.0005	0.0013	0.0002	0.0002	0.0026	0.0035	0.0150	0.0030659	474	154602	rs139526604	0.0020	0.0020	0.0015	0.0025	0.0186	0.0019	0.0019	0.0158	0.0147	0.0004	0.0010	0.0044	0.0002	0.0002	0.0186	0.0011	0.0026	0.0137	0.0015	0.0015	0.0013	0.0018	0.0097	0.0014	0.0013	0.0075	0.0067	0.0003	0	0.0019	0.0038	0.0002	0.0004	0.0034	0.0018	0.0028	0.0097	0.028	0.46129	D	0.039	0.51112	D	0.867	0.47667	P	0.4	0.44481	B	0.000024	0.55875	N	0.111842	1	0.81001	D	2.36	0.67893	M	-0.06	0.63568	T	-2.91	0.60982	D	0.196	0.21580	-0.5533	0.66661	T	0.282	0.65359	T	10	0.008068293	0.00183	T	.	.	.	0.287	0.60574	.	.	0.275215494804	0.27121	0.5262534306056779	0.52549	0.307136892763	0.33015	0.341207176447	0.16619	T	0.057572	0.30604	T	-0.238972	0.15480	T	-0.105012	0.63007	T	0.0394868305183321	0.03597	T	0.805919	0.45429	T	0.30385897	0.53248	0.41543442	0.65658	0.30385897	0.53248	0.41543442	0.65658	-2.71	0.07387	T	.	.	0.08	0.07793	B	.	.	3.930896	0.57454	23.9	0.99923209850801342	0.98917	0.98856	0.87762	D	AEFBI	0.633477	0.61371	D	0.47385892718642	0.65568	4.838959	0.506868326422859	0.68453	5.22189	0.999999999995626	0.74766	0.372202	0.05800	0	0.547309	0.14657	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	6.17	5.31	0.75063	6.854000	0.75239	7.439000	0.58857	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0672:0.0:0.9328:0.0	15.280	0.73478	795	0.45444	BAR domain|BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1822.11	33	chr5	149621740	.	G	A	1822.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.48;DP=878;ExcessHet=0.1072;FS=0.620;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=2.15;SOR=0.633	GT:AD:DP:GQ:PL	0/1:37,28:65:99:736,0,868	19	0	2	0
chr5	150167201	150167201	C	T	exonic	CDX1	.	nonsynonymous SNV	CDX1:NM_001804:exon1:c.C325T:p.P109S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.149	B	0.054	B	0.003	U	0.910	D	0.695	N	1.06	T	-1.062	T	0.055	T	0.183	1.299	10.25	3.54	1.808	2.313	9.696	0.041	0.20966205449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.901	0.02418	T	0.974	0.02459	T	0.149	0.27956	B	0.054	0.25828	B	0.002645	0.36173	U	0.226113	0.909549	0.36374	D	0.81	0.20779	L	1.06	0.39781	T	0.52	0.02853	N	0.094	0.07398	-1.0615	0.11385	T	0.055	0.23148	T	10	0.10266492	0.18830	T	0.209662	0.87211	D	0.041	0.10877	0.314	0.28935	0.258436476835	0.25460	0.5494430401508557	0.54870	1.18802059473	0.80198	0.847805976868	0.89283	D	0.057668	0.30631	T	-0.203403	0.20315	T	-0.529951	0.19292	T	0.697085082530975	0.40580	D	0.30237	0.05722	T	0.03396589	0.03719	0.07668303	0.17008	0.03396589	0.03719	0.07668303	0.17008	-5.523	0.42082	T	.	.	0.074	0.04975	B	.	.	3.153783	0.42703	21.6	0.99191220138559255	0.54994	0.75018	0.36714	D	AEFDBI	0.211836	0.33759	N	-0.497057728662331	0.22176	1.18233	-0.364266902732081	0.26071	1.43772	0.999999435301337	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.54	3.54	0.39650	3.038000	0.49473	2.144000	0.30864	0.458000	0.21545	1.000000	0.71638	0.993000	0.31925	0.813000	0.38311	0.0:0.8848:0.0:0.1152	9.696	0.39324	657	0.62240	Caudal-like activation 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	618.98	31	chr5	150167201	.	C	T	618.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.775;DP=593;ExcessHet=0.0000;FS=3.329;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.76;ReadPosRankSum=1.19;SOR=0.581	GT:AD:DP:GQ:PL	0/1:11,22:33:99:633,0,251	20	0	1	0
chr5	150368786	150368786	A	G	exonic	TCOF1	.	nonsynonymous SNV	TCOF1:NM_000356:exon5:c.A449G:p.N150S	Treacher Collins syndrome 1, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	521403	TCOF1-related_disorder|Inborn_genetic_diseases|Treacher_Collins_syndrome_1	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.072	B	0.031	B	0.081	N	1.000	N	0	N	1.62	T	-0.943	T	0.162	T	0.015	-1.605	0.014	2.23	0.664	1.865	6.753	0.074	0.0139715005022	7.7e-05	.	4.963e-05	0	0.0002	0	0	0	0	0.0002	5.82e-05	9	154602	rs141805606	3.557e-05	3.557e-05	3.267e-05	3.851e-05	0.0002	2.762e-05	2.501e-05	8.885e-05	7.053e-05	0	0.0001	0	2.519e-05	1.876e-05	0	2.428e-05	6.623e-05	0.0002	1.97e-05	1.969e-05	1.285e-05	2.685e-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	0.038	0.53172	D	0.49	0.24840	T	0.043	0.23997	B	0.014	0.21939	B	0.080933	0.20895	N	0.349077	1	0.08975	N	0	0.06538	N	-0.77	0.73739	T	-1.92	0.45222	N	0.207	0.29081	-0.9425	0.42218	T	0.162	0.49715	T	10	0.085684	0.14489	T	0.013972	0.33765	T	0.074	0.21613	.	.	0.333326979144	0.32939	0.0660408273163782	0.06543	0.0641732032036	0.07151	0.244308650494	0.03192	T	0.160811	0.50480	T	-0.414984	0.01842	T	-0.541723	0.18128	T	0.0308077155491525	0.02115	T	0.89721	0.66542	D	0.042799138	0.06557	0.05996803	0.11343	0.042799138	0.06556	0.05996803	0.11342	-1.984	0.03151	T	0.1368363125262857	0.15000	0.076	0.12560	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.665280	0.21236	15.11	0.64659046074297755	0.07555	0.68560	0.33848	D	ALL	0.053082	0.09533	N	-0.776680014300228	0.13920	0.6893033	-0.736079576396302	0.16066	0.8481003	0.999837248686893	0.43792	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.43	2.23	0.27189	1.844000	0.38910	3.042000	0.36085	0.756000	0.94297	0.912000	0.31733	0.960000	0.29291	0.139000	0.19909	0.7584:0.2416:0.0:0.0	6.753	0.22686	846	0.36215	.;.;.;.;.;Treacle protein domain;.;.;.;.;.;.;.	.	.	.	.	.	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	1272.98	34	chr5	150368786	.	A	G	1272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.304;DP=787;ExcessHet=0.0000;FS=0.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-1.339e+00;SOR=0.818	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1287,0,1126	20	0	1	0
chr5	150375799	150375799	G	A	exonic	TCOF1	.	nonsynonymous SNV	TCOF1:NM_000356:exon11:c.G1552A:p.V518I	Treacher Collins syndrome 1, Autosomal dominant	.	0	1517	5	0	0	5	0.00164528	.	.	296447	Treacher_Collins_syndrome_1|not_specified|not_provided	MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.03	D	0.951	P	0.76	P	0.038	N	1.000	N	1.59	L	-0.25	T	-0.880	T	0.249	T	0.204	2.628	14.75	1.02	0.470	0.480	2.166	0.136	.	0.0089	0.00239617	0.0077	0.0026	0.0029	0	0.0151	0.0112	0.0066	0.0012	0.0074579	1153	154602	rs75583421	0.0097	0.0097	0.0099	0.0096	0.0112	0.0096	0.0095	0.0111	0.0110	0.0013	0.0032	0.0094	0	0.0135	0.0005	0.0112	0.0081	0.0012	0.0078	0.0078	0.0076	0.0081	0.0111	0.0075	0.0073	0.0105	0.0102	0.0021	0	0.0072	0.0110	0	0.0166	0	0.0111	0.0085	0.0019	0.016	0.59928	D	0.162	0.42976	T	0.951	0.53992	P	0.76	0.56425	P	0.037673	0.01837	N	2.502770	1	0.08975	N	1.965	0.53209	M	-0.25	0.67011	T	-0.77	0.22508	N	0.113	0.14338	-0.8797	0.49786	T	0.249	0.61878	T	10	0.005758971	0.00128	T	.	.	.	0.136	0.36778	.	.	0.429154209284	0.42533	0.04733251895107793	0.04676	0.383352055737	0.39662	0.288181900978	0.08658	T	0.112068	0.42806	T	-0.441999	0.01258	T	-0.398283	0.33583	T	0.0196816857140967	0.00671	T	0.865313	0.59601	D	0.06207229	0.12925	0.046122603	0.06359	0.06864404	0.14973	0.054041408	0.09218	-4.972	0.39346	T	0.2441572400353352	0.33071	0.108	0.25429	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.222183	0.16164	12.36	0.99650463649884968	0.77254	0.17462	0.19848	N	AEFDBCI	0.056888	0.10553	N	-0.574713573974623	0.19715	1.03399	-0.663322229630827	0.17881	0.9527643	0.956405225962285	0.28245	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.16	1.02	0.19102	0.390000	0.20494	0.054000	0.14040	0.618000	0.50648	0.005000	0.17040	0.000000	0.08366	0.337000	0.25363	0.1128:0.1975:0.4867:0.203	2.166	0.03603	851	0.35303	.;Treacle protein domain;.;.;.;Treacle protein domain;.;.;.;.;Treacle protein domain;Treacle 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	1	0	0	1	0	1	0	0.04762	2061.11	47	chr5	150375799	.	G	A	2061.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.152;DP=909;ExcessHet=0.1072;FS=4.337;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=0.677;SOR=0.802	GT:AD:DP:GQ:PL	0/1:49,41:90:99:923,0,1178	19	0	2	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.741	P	0.178	B	0.000	D	1.000	D	2	M	0.11	T	-0.790	T	0.177	T	0.375	3.984	20.4	5.18	1.567	5.717	15.162	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2160.86	127	chr5	154834880	.	G	C	2160.86	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.995e+00;DP=2921;ExcessHet=17.4423;FS=258.744;InbreedingCoeff=-0.5414;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.501;SOR=12.076	GT:AD:DP:GQ:PL	0/1:102,39:150:99:230,0,2125	6	0	15	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,268,282:550:99:.:.:24169,11551,10643,10898,0,9909	0	12	1	0
chr5	159161427	159161427	T	C	exonic	RNF145	.	nonsynonymous SNV	RNF145:NM_001199380:exon10:c.A1555G:p.I519V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.108	B	0.097	B	0.000	D	1.000	D	-1.295	N	-1.02	T	-0.786	T	0.155	T	0.597	2.173	13.22	5.78	2.210	7.930	16.109	0.348	0.0321084093921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.689	0.53172	T	1.0	0.01155	T	0.069	0.26116	B	0.057	0.30390	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.6	0.02229	N	-1.04	0.78427	T	-0.02	0.19085	N	0.487	0.54671	-0.7862	0.55950	T	0.155	0.48687	T	10	0.22028938	0.38722	T	0.032108	0.54021	D	0.348	0.66956	0.381	0.39807	0.848737276254	0.84728	0.5429635205572487	0.54221	1.5713921237	0.88187	0.809239268303	0.83376	D	0.025021	0.18789	T	0.0879092	0.62953	D	-0.111501	0.62491	T	0.599808037281036	0.36392	D	0.910909	0.68443	D	0.08185151	0.18826	0.14571664	0.34550	0.08185151	0.18826	0.14571664	0.34549	-4.068	0.29557	T	.	.	0.428	0.63300	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.659358	0.34646	19.68	0.97983499804003948	0.37341	0.94498	0.61359	D	AEFDBHCI	0.933662	0.92588	D	-0.253708838070544	0.30955	1.731042	0.0519839670437108	0.42167	2.54587	0.999999999999995	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	7.908000	0.86831	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.109	0.81055	893	0.26510	.;TRC8 N-terminal domain;TRC8 N-terminal domain;TRC8 N-terminal domain;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	63.82	96	chr5	159161427	.	T	C	63.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.326e+00;DP=1394;ExcessHet=0.1128;FS=106.775;InbreedingCoeff=-0.0524;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.855;SOR=9.855	GT:AD:DP:GQ:PL	0/1:94,25:119:65:65,0,1919	18	0	2	1
chr5	177332169	177332169	C	T	exonic	LMAN2	.	nonsynonymous SNV	LMAN2:NM_006816:exon8:c.G988A:p.A330T,	.	.	426	1086	10	0	0	10	0.00458295	.	.	721395	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.4	T	0.313	B	0.019	B	0.000	D	1.000	D	1.67	L	-0.07	T	-0.918	T	0.127	T	0.467	3.036	16.13	4.33	2.456	3.089	13.182	0.100	0.017381909764	0.0066	0.00319489	0.0055	0.0004	0.0016	0	0.0030	0.0081	0.0048	0.0051	0.0056274	870	154602	rs150674852	0.0071	0.0071	0.0071	0.0071	0.0080	0.0070	0.0069	0.0078	0.0078	0.0012	0.0020	0.0123	2.519e-05	0.0032	0.0057	0.0080	0.0067	0.0054	0.0054	0.0054	0.0060	0.0046	0.0082	0.0051	0.0049	0.0076	0.0074	0.0014	0.0614	0.0029	0.0115	0	0.0021	0.0068	0.0082	0.0061	0.0050	0.395	0.10659	T	0.73	0.05165	T	0.313	0.32852	B	0.019	0.18783	B	0.000002	0.62929	D	0.056604	0.999778	0.81001	D	1.185	0.30054	L	-0.07	0.63738	T	-0.87	0.23590	N	0.482	0.51672	-0.9177	0.45864	T	0.127	0.43360	T	10	0.0093584955	0.00211	T	0.017382	0.39055	T	0.100	0.28662	.	.	0.623404466153	0.62034	0.5442323423595946	0.54349	0.439953692951	0.44012	0.790500640869	0.80519	T	0.082949	0.36945	T	-0.362589	0.03985	T	-0.284216	0.46370	T	0.0076413674045253	0.00089	T	0.913209	0.69058	D	0.07518554	0.16922	0.112450674	0.27132	0.07518554	0.16921	0.112450674	0.27131	-4.055	0.24624	T	.	.	0.179	0.39081	B	.	.	4.257340	0.64674	24.7	0.99665045043375566	0.78202	0.94008	0.59836	D	AEFDBI	0.446123	0.50232	N	0.00288589649692123	0.41987	2.521	0.124096177169886	0.45785	2.835501	0.99998539257677	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.26	4.33	0.51083	3.146000	0.50327	5.812000	0.50015	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.886000	0.42526	0.2638:0.7362:0.0:0.0	13.182	0.59082	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	929.98	34	chr5	177332169	.	C	T	929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.855;DP=813;ExcessHet=0.0000;FS=1.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=-2.386e+00;SOR=0.881	GT:AD:DP:GQ:PL	0/1:45,38:83:99:944,0,1060	20	0	1	0
chr5	177503142	177503142	C	G	exonic	DOK3	.	nonsynonymous SNV	DOK3:NM_001144876:exon5:c.G590C:p.S197T	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.312	B	0.054	B	.	.	1.000	N	0	N	0.7	T	-1.050	T	0.052	T	0.031	1.234	10.01	0.621	0.218	-0.121	3.861	0.042	0.00656367016175	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1429759419	1.429e-06	1.368e-06	0	2.898e-06	0.0004	2.4e-07	9e-08	6.163e-05	2.548e-05	0	0	0	0	0	0.0004	0	0	0	6.756e-06	6.578e-06	0	1.389e-05	1.496e-05	0	0	.	.	0	0	0	0	0	0	0	1.496e-05	0	0	0.0	0.91255	D	0.09	0.40267	T	0.137	0.27402	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	.	.	.	0.7	0.52642	T	-0.6	0.22508	N	0.102	0.08506	-1.0504	0.14285	T	0.052	0.22269	T	9	0.056775093	0.06417	T	0.006564	0.17301	T	0.042	0.11227	0.078	0.00601	0.166414681773	0.16258	.	.	.	.	.	.	.	.	.	.	-0.294136	0.09225	T	-0.660282	0.08247	T	0.0984869624614762	0.12189	T	0.294271	0.05429	T	.	.	.	.	.	.	.	.	-3.868	0.21824	T	.	.	0.089	0.15430	B	.;.	.;.	-0.057389	0.03902	0.858	0.95540207027966828	0.27187	0.06904	0.12930	N	AEFDBHCI	0.038137	0.05353	N	-1.07303256522155	0.07144	0.3309701	-1.15179540852759	0.06735	0.3252288	0.999998833144888	0.74766	0.646311	0.45356	0	0.685571	0.66316	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	1.53	0.621	0.16817	-0.067000	0.11538	-0.331000	0.09890	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.759:0.0:0.241	3.861	0.08505	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	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	998.98	67	chr5	177503142	.	C	G	998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.736e+00;DP=1301;ExcessHet=0.0000;FS=0.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-6.310e-01;SOR=0.523	GT:AD:DP:GQ:PL	0/1:34,39:73:99:1013,0,946	20	0	1	0
chr5	178991554	178991554	C	A	exonic	GRM6	.	nonsynonymous SNV	GRM6:NM_000843:exon4:c.G727T:p.V243F,	Night blindness, congenital stationary (complete), 1B, autosomal recessive, Autosomal recessive	YES	0	1455	66	1	0	68	0.0228341	.	.	105546	Congenital_stationary_night_blindness_1B|not_specified|not_provided|GRM6-related_disorder	MONDO:MONDO:0009758,MedGen:C1850362,OMIM:257270,Orphanet:215|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.979	D	0.883	P	.	.	0.996	D	2.47	M	-2.23	D	0.649	D	0.767	D	0.764	4.278	22.4	5.16	2.575	1.436	16.538	0.604	.	0.0019	0.00319489	0.0046	0.0004	0.0014	0	0.0003	0.0048	0.0067	0.0129	0.0042173	652	154602	rs17078894	0.0038	0.0038	0.0033	0.0042	0.0144	0.0037	0.0036	0.0128	0.0125	0.0003	0.0017	0.0377	2.52e-05	0.0004	0.0144	0.0025	0.0056	0.0134	0.0032	0.0032	0.0030	0.0033	0.0145	0.0029	0.0028	0.0118	0.0108	0.0006	0	0.0028	0.0421	0.0002	0	0.0068	0.0027	0.0052	0.0145	0.001	0.78490	D	0.004	0.74150	D	0.979	0.59044	D	0.883	0.62698	P	.	.	.	.	0.995925	0.42925	D	2.395	0.69210	M	-2.23	0.87116	D	-3.64	0.69835	D	0.771	0.87590	0.649	0.92536	D	0.767	0.92072	D	9	0.015617073	0.00328	T	.	.	.	0.604	0.84398	.	.	0.881730640562	0.88057	0.5530409845540497	0.55230	0.450566886049	0.44827	0.481126189232	0.36211	T	0.642794	0.89066	D	-0.126361	0.32085	T	0.0567458	0.74028	D	0.0345301796586626	0.02728	T	0.963604	0.86445	D	0.61503285	0.73498	0.63056123	0.78449	0.62473875	0.74018	0.6487359	0.79454	-14.153	0.93543	D	0.4373697868778072	0.52348	0.356	0.56952	A	.;.;.	.;.;.	4.541005	0.71374	25.7	0.99638721072216774	0.76510	0.90557	0.51832	D	AEFDBI	0.365301	0.45352	N	0.572894785320832	0.71485	5.658235	0.5271236060106	0.69822	5.415446	0.278587631831547	0.18964	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.16	5.16	0.70563	0.841000	0.27267	2.789000	0.34784	0.599000	0.40250	0.283000	0.25169	0.988000	0.31051	0.992000	0.67800	0.0:1.0:0.0:0.0	16.538	0.84224	691	0.58815	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2746.11	35	chr5	178991554	.	C	A	2746.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.39;DP=888;ExcessHet=0.1072;FS=1.038;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-1.400e-01;SOR=0.606	GT:AD:DP:GQ:PL	0/1:51,58:109:99:1340,0,1119	19	0	2	0
chr5	179345258	179345258	-	GCAGCAGCAGCAGCA	exonic	ADAMTS2	.	nonframeshift insertion	ADAMTS2:NM_014244:exon1:c.70_71insTGCTGCTGCTGCTGC:p.L23_P24insLLLLL	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1686341	Ehlers-Danlos_syndrome,_dermatosparaxis_type|not_provided	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410,Orphanet:1901|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs568040559	2.123e-05	1.574e-05	1.933e-05	2.33e-05	0.0003	1.364e-05	1.157e-05	0.0001	8.041e-05	0.0001	0	0	0.0003	0	0	1.617e-05	0	0	2.04e-05	1.989e-05	1.326e-05	2.791e-05	0.0001	5.42e-06	2.5e-06	2.312e-05	9.26e-06	2.496e-05	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5145.56	17	chr5	179345258	.	G	GGCA,GGCAGCAGCAGCAGCA	5145.56	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-2.730e-01;DP=757;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=-2.730e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:5,10,0:15:99:397,0,180,412,210,622	14	0	6	0
chr5	179651890	179651890	T	C	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.T659C:p.L220P	.	.	429	1084	4	0	5	9	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.0	B	.	.	.	.	.	.	1.93	T	-1.028	T	0.061	T	0.039	-1.326	0.032	-0.693	-1.618	-0.878	.	0.022	.	.	.	0.0035	0.0166	0.0117	0.0032	0	0.0016	0	0.0025	0.0001035	16	154602	rs567530098	0.0011	0.0017	0.0010	0.0011	0.0094	0.0010	0.0010	0.0085	0.0082	0.0094	0.0014	0.0002	0.0018	6.221e-05	0.0016	0.0007	0.0022	0.0022	0.0063	0.0065	0.0064	0.0062	0.0179	0.0060	0.0058	0.0168	0.0164	0.0179	0	0.0030	0	0.0043	0	0	0.0018	0.0043	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	184.0	33	chr5	179651890	.	T	C	184.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.197e+00;DP=687;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=48.93;MQRankSum=1.10;QD=5.11;ReadPosRankSum=0.979;SOR=0.634	GT:AD:DP:GQ:PL	0/1:25,11:36:99:198,0,668	20	0	1	0
chr6	7405275	7405275	G	A	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon12:c.G811A:p.V271I	.	.	425	1094	3	0	0	3	0.00136924	.	.	3409317	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.767	P	0.549	P	0.000	N	1.000	D	1.41	L	3.32	T	-0.926	T	0.013	T	0.163	3.847	19.54	4.5	1.266	7.221	13.123	0.071	0.0144562593385	0.0055	0.00279553	0.0045	0.0019	0.0046	0	0.0035	0.0066	0.0011	0.0008	0.0046765	723	154602	rs56067778	0.0062	0.0062	0.0064	0.0059	0.0072	0.0061	0.0060	0.0071	0.0070	0.0013	0.0050	0.0068	0	0.0029	0.0026	0.0072	0.0050	0.0009	0.0044	0.0044	0.0047	0.0041	0.0070	0.0041	0.0040	0.0065	0.0063	0.0015	0	0.0056	0.0035	0	0.0019	0.0034	0.0070	0.0047	0.0008	0.036	0.43393	D	0.094	0.39645	T	0.767	0.43786	P	0.549	0.49194	P	0.000015	0.62929	N	0.113199	1	0.81001	D	1.255	0.31814	L	3.32	0.06214	T	-0.97	0.25770	N	0.282	0.31925	-0.9263	0.44673	T	0.013	0.05129	T	10	0.010382742	0.00231	T	0.014456	0.34591	T	0.071	0.20720	.	.	0.36453787251	0.36064	0.4071093323463725	0.40626	0.204602031451	0.22881	0.373666852713	0.21357	T	0.009266	0.08447	T	-0.517773	0.00453	T	-0.509699	0.21346	T	0.0348122710622711	0.02776	T	0.861414	0.55526	D	0.2554301	0.48577	0.1448719	0.34379	0.2554301	0.48577	0.1448719	0.34378	-8.541	0.64700	D	.	.	0.125	0.26388	B	.	.	4.211540	0.63633	24.6	0.99646313535507269	0.77005	0.99075	0.90859	D	AEFDBI	0.761235	0.69901	D	0.263892365592409	0.54329	3.598792	0.286121978011405	0.54728	3.636977	0.999966677685168	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	4.5	0.54382	7.387000	0.79051	9.758000	0.81499	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	0.0771:0.0:0.9229:0.0	13.123	0.58752	663	0.61610	RIO kinase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	804.98	34	chr6	7405275	.	G	A	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.483e+00;DP=764;ExcessHet=0.0000;FS=1.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=-4.110e-01;SOR=0.685	GT:AD:DP:GQ:PL	0/1:24,34:58:99:819,0,584	20	0	1	0
chr6	7910699	7910701	CAG	-	exonic	TXNDC5	.	nonframeshift deletion	TXNDC5:NM_030810:exon1:c.76_78del:p.L26del,	.	.	407	1088	27	0	0	27	0.012256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0212	0.0172	0	.	.	0	0	0.0417	6.5e-06	1	154602	rs775841007	0.0006	0.0059	0.0005	0.0008	0.0063	0.0006	0.0006	0.0044	0.0038	0.0007	0.0063	0.0012	0.0022	0.0033	0.0014	0.0005	0.0008	0.0023	2.708e-05	0.0002	2.641e-05	2.778e-05	6.034e-05	8.33e-06	5.27e-06	2.008e-05	1.148e-05	0	0	0	0	0	0	0	6.034e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	89.68	19	chr6	7910698	.	CCAG	C	89.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.53;DP=625;ExcessHet=0.3300;FS=1.982;InbreedingCoeff=-0.0761;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=3.45;ReadPosRankSum=1.27;SOR=1.292	GT:AD:DP:GQ:PL	0/1:15,2:17:39:39,0,624	18	0	3	0
chr6	16143815	16143815	C	T	exonic	MYLIP	.	nonsynonymous SNV	MYLIP:NM_013262:exon5:c.C779T:p.A260V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.98	D	0.000	D	1.000	D	2.045	M	1.09	T	0.321	D	0.654	D	0.894	3.046	16.17	5.3	2.463	7.468	18.964	0.440	0.0735088454345	.	0.000199681	2.472e-05	9.619e-05	0	0	0	2.998e-05	0	0	2.59e-05	4	154602	rs201781624	4.105e-06	4.104e-06	5.445e-06	2.75e-06	1.159e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	1.159e-05	1.321e-05	1.314e-05	0	2.707e-05	2.428e-05	2.2e-06	8.2e-07	.	.	2.428e-05	0	0	0	0	0	0	1.472e-05	0	0	0.11	0.30800	T	0.22	0.30631	T	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.65	0.82625	D	-1.27	0.31981	N	0.863	0.85979	0.321	0.87897	D	0.654	0.87973	D	10	0.6978902	0.72259	D	0.073509	0.71808	D	0.440	0.74377	.	.	0.917068779723	0.91623	0.763102016952529	0.76258	0.511467238456	0.49222	0.773297011852	0.77917	T	0.41979	0.77170	T	0.248159	0.78429	D	0.300214	0.88207	D	0.83887106180191	0.49235	D	0.957071	0.83814	D	0.47494727	0.65593	0.24573329	0.50067	0.47494727	0.65594	0.24573329	0.50066	-8.716	0.65850	D	.	.	0.807	0.77612	P	.;.	.;.	4.532108	0.71161	25.6	0.99750599825124475	0.84228	0.97483	0.75040	D	AEFBCI	0.865559	0.78468	D	0.71164414811917	0.80397	7.284899	0.680977355404621	0.80937	7.411034	0.999999999999992	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.3	5.3	0.74745	7.551000	0.81129	7.711000	0.66806	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.816000	0.38450	0.0:1.0:0.0:0.0	18.964	0.92665	786	0.46839	FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1301.98	37	chr6	16143815	.	C	T	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.820e-01;DP=882;ExcessHet=0.0000;FS=4.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-2.258e+00;SOR=0.383	GT:AD:DP:GQ:PL	0/1:58,57:115:99:1316,0,1378	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	0/2:34,14,19:67:67:423,67,516,0,399,448	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	0/2:34,14,19:67:67:423,67,516,0,399,448	2	0	6	2
chr6	24449830	24449830	C	T	exonic	GPLD1	.	nonsynonymous SNV	GPLD1:NM_001503:exon15:c.G1405A:p.V469M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.001	D	1.000	D	4.185	H	-0.82	T	0.628	D	0.682	D	0.759	4.248	22.1	5.35	2.484	2.570	13.400	0.649	0.104604768328	.	0.000399361	7.443e-05	0.0002	0	0	0	0.0001	0	0	8.41e-05	13	154602	rs142854013	9.784e-05	9.782e-05	0.0001	9.489e-05	0.0003	8.445e-05	7.922e-05	6.322e-05	5.825e-05	5.974e-05	4.473e-05	0.0015	5.039e-05	0	0.0003	7.645e-05	0.0002	0	6.568e-05	6.562e-05	5.14e-05	8.06e-05	0.0002	3.515e-05	2.615e-05	2.26e-05	9.07e-06	4.813e-05	0	0.0001	0.0006	0.0002	0	0	2.94e-05	0.0005	0	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.991	0.79672	D	0.000656	0.42656	D	0.098975	0.928214	0.36888	D	3.545	0.93219	H	-0.82	0.74053	T	-2.4	0.52776	N	0.639	0.65159	0.628	0.92270	D	0.682	0.89014	D	10	0.33045512	0.50283	T	0.104605	0.77927	D	0.649	0.86736	.	.	0.831590232921	0.82998	0.6765934112816115	0.67598	0.454322023127	0.45126	0.529373943806	0.42946	T	0.586482	0.86538	D	0.0620918	0.59875	T	0.0430967	0.73130	D	0.590603709220886	0.36030	D	0.940639	0.77718	D	0.52934384	0.68793	0.55822855	0.74444	0.52934384	0.68794	0.55822855	0.74444	-11.191	0.80695	D	.	.	0.340	0.55883	B	.	.	5.218045	0.87575	29.3	0.99906851052549028	0.97726	0.82323	0.41568	D	AEFBI	0.249550	0.36976	N	0.874268062007635	0.90444	10.40643	0.761049614675156	0.86981	9.066697	0.0271670618771353	0.13757	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.35	5.35	0.76297	2.895000	0.48347	5.826000	0.50123	0.547000	0.25779	0.990000	0.36992	1.000000	0.68203	0.864000	0.41028	0.0:0.922:0.0:0.078	13.400	0.60323	749	0.51929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1446.98	37	chr6	24449830	.	C	T	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.191;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=1.33;SOR=0.666	GT:AD:DP:GQ:PL	0/1:52,64:116:99:1461,0,1079	20	0	1	0
chr6	24797645	24797645	T	C	exonic	ARMH2	.	nonsynonymous SNV	ARMH2:NM_001282492:exon2:c.A458G:p.E153G,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00643654671084	.	.	0.0004	0	0	0	.	0.0004	0	0.0004	2.59e-05	4	154602	rs754369554	0.0001	0.0001	9.705e-05	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0.0002	0.0004	0.0004	2.799e-05	0	0.0014	8.529e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0001	0.0011	0.0009	2.405e-05	0	0.0016	0.0006	0	0	0.0034	7.351e-05	0	0.0004	0.03	0.45393	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.51952	T	-5.36	0.84811	D	0.11	0.09631	.	.	.	.	.	.	.	0.06699014	0.09269	T	0.006437	0.16956	T	.	.	.	.	0.591526896791	0.58829	0.1991145472718713	0.19828	.	.	.	.	.	0.086519	0.37743	T	-0.47835	0.00756	T	-0.584344	0.14160	T	.	.	.	0.323368	0.06588	T	0.20130898	0.42138	0.23354726	0.48547	0.20130898	0.42137	0.23354726	0.48546	-4.139	0.25863	T	.	.	0.164	0.36113	B	.	.	2.291072	0.29305	18.08	0.96652538825715284	0.30596	0.16418	0.19380	N	AEFBI	0.124112	0.24002	N	.	.	.	.	.	.	0.997548531848943	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.95	4.79	0.60909	2.295000	0.43236	6.093000	0.53467	0.665000	0.62972	0.064000	0.21895	0.994000	0.32194	0.002000	0.04165	0.0:0.0788:0.0:0.9212	9.799	0.39918	772	0.48957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1570.98	37	chr6	24797645	.	T	C	1570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.084e+00;DP=943;ExcessHet=0.0000;FS=0.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=0.243;SOR=0.642	GT:AD:DP:GQ:PL	0/1:92,66:158:99:1585,0,2500	20	0	1	0
chr6	29724188	29724188	A	G	exonic	HLA-F	.	nonsynonymous SNV	HLA-F:NM_001098478:exon3:c.A350G:p.Q117R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.998	D	0.004	U	0.772	N	5.055	H	8.3	T	-1.061	T	0.023	T	0.59	0.388	6.105	1.63	0.724	0.934	5.212	0.102	0.000545157378686	0.0001	.	8.661e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs28628033	6.846e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	6.569e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.92824	D	0.896	0.49324	P	0.814	0.66279	P	0.003688	0.34611	U	0.000000	1	0.29426	N	3.99	0.96693	H	8.3	0.00261	T	-3.64	0.70314	D	0.445	0.49874	-1.0611	0.11483	T	0.023	0.09741	T	10	0.3133424	0.48786	T	5.45E-4	0.00196	T	0.102	0.29158	.	.	0.273938319068	0.27005	0.7907556312582983	0.79027	1.37107048066	0.84535	0.30844861269	0.11672	T	0.31411	0.68582	T	-0.0488847	0.44617	T	-0.307996	0.43873	T	0.963096141815186	0.66558	D	0.570643	0.20320	T	0.850253	0.87354	0.80004877	0.88273	0.850253	0.87355	0.80004877	0.88273	-9.968	0.73804	D	.	.	0.501	0.67259	A	.;.;.;.	.;.;.;.	3.486053	0.48708	22.7	0.61852636814207151	0.06813	0.03185	0.08170	N	AEFDGBCI	0.085979	0.17432	N	0.0645039009909192	0.44813	2.748512	-0.321046226925983	0.27420	1.521362	0.999999888968716	0.74766	0.72623	0.87236	0	0.504199	0.08210	0	0.594344	0.31042	0	0.618803	0.45993	0	.	.	1.63	1.63	0.22882	1.141000	0.31140	.	.	0.553000	0.28181	0.003000	0.16062	0.000000	0.08366	0.046000	0.14843	1.0:0.0:0.0:0.0	5.212	0.14642	856	0.34373	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	936.98	38	chr6	29724188	.	A	G	936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.210e-01;DP=823;ExcessHet=0.0000;FS=3.892;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=-7.650e-01;SOR=1.153	GT:AD:DP:GQ:PL	0/1:63,41:104:99:951,0,1681	20	0	1	0
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11446.09	83	chr6	29942948	.	C	G,*	11446.09	.	AC=7,5;AF=0.167,0.119;AN=42;BaseQRankSum=2.18;DP=2279;ExcessHet=3.2961;FS=4.407;InbreedingCoeff=-0.1632;MLEAC=7,5;MLEAF=0.167,0.119;MQ=58.86;MQRankSum=-2.836e+00;QD=8.92;ReadPosRankSum=-1.240e+00;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,69,0:69:99:1|1:29942939_C_G:3105,208,0,3105,208,3105:29942939	10	1	5	0
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	27213.23	96	chr6	29942984	.	G	A,*	27213.23	.	AC=17,4;AF=0.447,0.105;AN=38;BaseQRankSum=2.07;DP=1862;ExcessHet=2.0051;FS=0.540;InbreedingCoeff=-0.1455;MLEAC=18,4;MLEAF=0.474,0.105;MQ=58.85;MQRankSum=-2.139e+00;QD=18.59;ReadPosRankSum=-7.460e-01;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,47,0:47:99:1|1:29942982_T_A:2115,141,0,2115,141,2115:29942982	3	4	8	2
chr6	30705288	30705288	G	A	exonic	MDC1	.	stopgain	MDC1:NM_014641:exon10:c.C3895T:p.R1299X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	0.008	N	1.000	A	.	.	.	.	.	.	.	.	.	12.173	46	3.23	2.145	3.575	10.269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362687413	6.198e-06	6.842e-06	8.221e-06	4.154e-06	8.124e-06	2.92e-06	2.11e-06	3.82e-06	2.77e-06	0	0	0	0	0	0	8.124e-06	0	0	6.612e-06	6.588e-06	0	1.355e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.007509	0.31355	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.586	0.60664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413012	0.90647	D	0.355487	0.90530	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.548115	0.96628	36	0.99740810564760529	0.83482	0.89579	0.50134	D	AEFBI	0.046648	0.07769	N	0.559446095650301	0.70660	5.534164	0.280126044387167	0.54381	3.603173	0.991729322328383	0.32587	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.23	3.23	0.36150	1.857000	0.39038	.	.	0.585000	0.30472	0.776000	0.29426	0.937000	0.28687	0.104000	0.18471	0.0:0.0:1.0:0.0	10.269	0.42652	884	0.28482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5290.98	37	chr6	30705288	.	G	A	5290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.19;DP=2518;ExcessHet=0.0000;FS=1.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-1.470e-01;SOR=0.745	GT:AD:DP:GQ:PL	0/1:199,205:404:99:5305,0,4711	20	0	1	0
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8675.72	395	chr6	31026275	.	A	T,*	8675.72	.	AC=1,8;AF=0.024,0.190;AN=42;BaseQRankSum=-4.499e+00;DP=9847;ExcessHet=0.9430;FS=5.229;InbreedingCoeff=0.0101;MLEAC=1,8;MLEAF=0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=2.13;ReadPosRankSum=0.273;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:405,0,128:533:99:0|1:31026245_ACCACAGGCT_A:4156,5375,22381,0,17006,16621:31026245	13	0	1	0
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	200572.81	770	chr6	31028713	.	C	T,*	200572.81	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=1.28;DP=14734;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=13,2;MLEAF=0.310,0.048;MQ=59.98;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-4.400e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:479,448,0:927:99:0|1:31028713_C_T:16784,0,17895,18331,19382,38422:31028713	9	2	8	0
chr6	31029812	31029812	-	CTGAGACCACCACAGCCTCCACTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4381_4382insCTGAGACCACCACAGCCTCCACTG:p.S1461_G1462insETTTASTA	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0016	0.0071	0.0015	0.0014	0.0052	0.0046	0.0002	0.0014	0.0048	0.0004	0.0062	0.0071	0.0012	0.0021	0.0041	0.0005	0.0005	0.0006	0.0005	0.0013	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0005	0.0018	0.0002	0.0009	0	0.0007	0.0007	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:686,166,0,0:852:99:0|1:31029812_T_G:3933,0,27533,5992,28026,34018,5992,28026,34018,34018:31029812	8	0	6	2
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:686,166,0,0:852:99:0|1:31029812_T_G:3933,0,27533,5992,28026,34018,5992,28026,34018,34018:31029812	8	0	6	2
chr6	31029828	31029828	A	0	exonic	MUC22	.	.	.	.	.	423	969	80	0	50	130	0.0396432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	5569.5	583	chr6	31029828	.	A	C,*	5569.5	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-1.683e+00;DP=14086;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1831;MLEAC=2,4;MLEAF=0.050,0.100;MQ=59.56;MQRankSum=-4.977e+00;QD=1.04;ReadPosRankSum=-8.380e+00;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:716,135,0:851:99:0|1:31029812_T_G:2985,0,29491,5138,29894,35032:31029812	14	0	2	1
chr6	31029837	31029839	GTA	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.4406_4408del:p.C1469_T1470delinsS	.	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.275e-05	0	0	0	.	0	0	0.0001	.	.	.	rs775610649	0.0023	0.0032	0.0022	0.0024	0.0049	0.0022	0.0022	0.0043	0.0040	0.0009	0.0049	0.0030	0.0036	0.0157	0.0033	0.0018	0.0031	0.0023	0.0026	0.0070	0.0025	0.0026	0.0036	0.0023	0.0023	0.0028	0.0026	0.0008	0.0046	0.0036	0.0024	0.0004	0.0056	0.0036	0.0031	0.0029	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4844.79	583	chr6	31029836	.	TGTA	T,*	4844.79	.	AC=2,4;AF=0.048,0.095;AN=42;BaseQRankSum=-1.082e+00;DP=14123;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1667;MLEAC=2,4;MLEAF=0.048,0.095;MQ=59.64;MQRankSum=-1.155e+01;QD=0.91;ReadPosRankSum=-9.982e+00;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:733,116,0:849:99:0|1:31029812_T_G:2361,0,30395,4568,30742,35310:31029812	15	0	2	0
chr6	31029836	31029839	TGTA	0	exonic	MUC22	.	.	.	.	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4844.79	583	chr6	31029836	.	TGTA	T,*	4844.79	.	AC=2,4;AF=0.048,0.095;AN=42;BaseQRankSum=-1.082e+00;DP=14123;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1667;MLEAC=2,4;MLEAF=0.048,0.095;MQ=59.64;MQRankSum=-1.155e+01;QD=0.91;ReadPosRankSum=-9.982e+00;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:733,116,0:849:99:0|1:31029812_T_G:2361,0,30395,4568,30742,35310:31029812	15	0	2	0
chr6	31029842	31029842	-	CTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4411_4412insCTG:p.T1471_G1472insA	.	.	425	1038	57	0	2	59	0.0267229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.278e-05	0	0	0	.	0	0	0.0001	.	.	.	rs749779546	0.0019	0.0028	0.0019	0.0020	0.0037	0.0019	0.0018	0.0032	0.0030	0.0008	0.0037	0.0027	0.0032	0.0121	0.0027	0.0015	0.0024	0.0014	0.0016	0.0039	0.0015	0.0017	0.0030	0.0014	0.0014	0.0023	0.0020	0.0003	0.0049	0.0030	0.0012	0.0004	0.0046	0.0037	0.0017	0.0015	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3883.76	583	chr6	31029842	.	A	ACTG	3883.76	.	AC=2;AF=0.050;AN=40;BaseQRankSum=0.430;DP=13550;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=59.63;MQRankSum=-6.315e+00;QD=2.12;ReadPosRankSum=-9.466e+00;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:726,99:825:99:0|1:31029812_T_G:1772,0,30188:31029812	18	0	2	1
chr6	31029847	31029847	T	0	exonic	MUC22	.	.	.	.	.	427	1042	49	0	4	53	0.0229723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2266.5	583	chr6	31029847	.	T	C,*	2266.5	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=2.16;DP=13767;ExcessHet=1.7912;FS=0.695;InbreedingCoeff=-0.1831;MLEAC=2,4;MLEAF=0.050,0.100;MQ=59.71;MQRankSum=-4.957e+00;QD=0.44;ReadPosRankSum=-1.045e+01;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:735,78,0:813:99:0|1:31029812_T_G:872,0,30629,3084,30863,33947:31029812	14	0	2	1
chr6	31138724	31138724	-	C	exonic	PSORS1C1	.	frameshift insertion	PSORS1C1:NM_014068:exon5:c.112dupC:p.H40Pfs*3,	.	.	442	561	311	61	147	580	0.278457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	80570.49	135	chr6	31138723	.	TC	TCC,T	80570.49	.	AC=15,5;AF=0.357,0.119;AN=42;BaseQRankSum=0.541;DP=5630;ExcessHet=8.0185;FS=0.525;InbreedingCoeff=-0.3364;MLEAC=15,5;MLEAF=0.357,0.119;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=0.407;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:127,140,0:267:99:.:.:3436,0,4783,3818,5203,9022	4	3	9	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M	.	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.028	B	0.035	B	.	.	1.000	P	2.105	M	5.37	T	-0.965	T	0.002	T	0.376	-0.110	3.463	-1.63	-0.380	0.547	3.715	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	24199.8	109	chr6	31270002	.	C	T	24199.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-8.100e-01;DP=3021;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=59.14;MQRankSum=-1.400e-01;QD=18.73;ReadPosRankSum=-1.480e-01;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,61:164:99:.:.:1471,0,2974	12	1	8	0
chr6	31270056	31270056	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.A925T:p.M309L	.	.	81	51	300	1006	84	2396	0.957746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	1.575	L	5.84	T	-1.004	T	0.001	T	0.425	-0.069	3.663	-3.63	-1.536	-2.290	10.581	0.120	.	.	0.0177716	0.0078	0.0433	0.0067	0.0001	0.0026	0.0052	0.0092	0.0028	0.0070245	1086	154602	rs1050180	2.484e-05	0.0016	2.064e-05	2.915e-05	0.0005	1.588e-05	1.28e-05	0.0002	0.0002	0.0005	0.0001	0	0	0	0	1.125e-05	0	0.0001	3.397e-05	0.0042	3.245e-05	3.565e-05	8.98e-05	5.64e-06	2.11e-06	.	.	8.98e-05	0	0	0	0	0	0	3.028e-05	0	0	0.018	0.50676	D	0.125	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.82	0.00657	T	-0.4	0.14978	N	0.067	0.04307	-1.0040	0.28755	T	0.001	0.00378	T	9	0.0030311644	0.00050	T	.	.	.	0.120	0.33359	0.407	0.44066	0.0762999501168	0.06990	0.10785664231938592	0.10714	0.459405056151	0.45523	0.250036120415	0.03772	T	0.006007	0.05450	T	-0.585568	0.00178	T	-0.561255	0.16258	T	0.00351274895036235	0.00037	T	0.210379	0.02537	T	.	.	.	.	.	.	.	.	-5.459	0.41483	T	.	.	0.115	0.25850	B	.;.;.	.;.;.	0.455434	0.08254	4.996	0.33681637653518909	0.02019	0.04374	0.09949	N	AEFBHCI	0.092565	0.18738	N	-1.68195883182571	0.00907	0.0392893	-1.81546310783018	0.00711	0.03167287	0.999999606301239	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.63	0.04238	-3.041000	0.00696	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2105:0.0:0.7895	10.581	0.44447	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.8333	81957.2	114	chr6	31270056	.	T	C,A	81957.2	.	AC=33,4;AF=0.786,0.095;AN=42;BaseQRankSum=-1.136e+00;DP=2977;ExcessHet=1.1607;FS=0.717;InbreedingCoeff=-0.1351;MLEAC=33,4;MLEAF=0.786,0.095;MQ=59.64;MQRankSum=0.00;QD=28.32;ReadPosRankSum=0.291;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,173,0:173:99:1|1:31270056_T_C:7232,520,0,7232,520,7232:31270056	0	13	5	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I	.	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.005	B	0.002	U	1.000	P	3.3	M	4.31	T	-1.111	T	0.009	T	0.422	-0.903	0.431	2.67	1.821	0.868	9.019	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.2381	10478.8	66	chr6	31270250	.	C	A	10478.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.683;DP=1987;ExcessHet=1.5138;FS=6.263;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=51.19;MQRankSum=-1.731e+00;QD=13.25;ReadPosRankSum=-1.916e+00;SOR=1.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,28:59:99:.:.:832,0,908	12	1	8	0
chr6	31271103	31271103	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G589A:p.E197K	.	.	0	1403	119	0	0	119	0.0406838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.009	B	0.790	U	0.427	P	3.07	M	5.6	T	-0.366	T	0.302	T	0.65	2.525	14.40	2.71	1.826	-0.307	11.543	0.156	.	.	.	0.1110	0.0746	0.0941	0.2012	0.1819	0.1147	0.0891	0.0572	0.0917647	14187	154602	rs1050357	0.0006	0.0078	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0018	0.0003	0.0009	0.0002	0.0026	0.0004	0	0.0005	0.0004	0.0012	0.0003	0.0092	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0.0002	0	0.0004	0	0	0.093	0.31532	T	0.02	0.59159	D	0.002	0.09854	B	0.006	0.12133	B	0.789762	0.09406	U	0.857122	0.426676	0.32312	P	.	.	.	5.6	0.00825	T	-3.04	0.63782	D	0.031	0.01004	-0.3665	0.73068	T	0.302	0.67297	T	9	0.0043652654	0.00089	T	.	.	.	0.227	0.52620	.	.	.	.	0.223966816434011	0.22311	0.55958892267	0.52497	0.365928024054	0.20246	T	0.015762	0.13159	T	-0.5327	0.00370	T	-0.394143	0.34067	T	0.0614167510250327	0.07389	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-6.911	0.53380	T	.	.	0.143	0.35225	B	.;.;.	.;.;.	2.220269	0.28336	17.76	0.92642286042257171	0.22116	0.17864	0.20020	N	AEFBHCI	0.275676	0.39058	N	-0.179300595314162	0.33997	1.935281	-0.334977477670174	0.26977	1.493829	0.99999999125913	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	2.71	0.31092	-0.711000	0.05121	.	.	-1.944000	0.00489	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:1.0:0.0:0.0	11.543	0.49932	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	rs145793920	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.04762	2417.11	147	chr6	31271103	.	C	T	2417.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.815;DP=3037;ExcessHet=0.1072;FS=2.412;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=54.23;MQRankSum=1.59;QD=9.55;ReadPosRankSum=1.79;SOR=0.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,41:131:99:0|1:31270985_T_C:1411,0,3543:31270985	19	0	2	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	37138.39	180	chr6	31271153	.	A	C,T,*	37138.39	.	AC=19,1,4;AF=0.452,0.024,0.095;AN=42;BaseQRankSum=3.30;DP=3892;ExcessHet=30.0624;FS=1.107;InbreedingCoeff=-0.7500;MLEAC=19,1,4;MLEAF=0.452,0.024,0.095;MQ=52.03;MQRankSum=-2.061e+00;QD=9.74;ReadPosRankSum=-8.020e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,55,0,0:140:99:0|1:31270985_T_C:1756,0,2081,2011,2246,4257,2011,2246,4257,4257:31270985	0	0	16	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	17754.15	108	chr6	31271337	.	G	T,*	17754.15	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-1.740e-01;DP=1928;ExcessHet=2.0984;FS=6.544;InbreedingCoeff=-0.0716;MLEAC=13,1;MLEAF=0.310,0.024;MQ=56.58;MQRankSum=-3.890e+00;QD=13.85;ReadPosRankSum=-1.971e+00;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,61,0:116:99:0|1:31271337_G_T:2369,0,2126,2535,2309,4844:31271337	9	2	9	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G,	.	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.017	N	0.986	N	-3.21	N	4.34	T	-1.015	T	0.000	T	0.312	0.549	6.971	1.33	0.182	0.951	7.857	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.2381	3496.72	194	chr6	31355425	.	T	C	3496.72	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.611;DP=3822;ExcessHet=6.1002;FS=21.379;InbreedingCoeff=-0.3069;MLEAC=10;MLEAF=0.238;MQ=58.03;MQRankSum=-1.346e+01;QD=1.73;ReadPosRankSum=-2.710e-01;SOR=1.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:197,29:226:99:.:.:393,0,5981	11	0	10	0
chr6	31355485	31355485	G	A	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.C727T:p.R243W,	.	.	2	1475	45	0	0	45	0.015025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.087	B	0.01	B	0.073	U	0.998	N	2.485	M	4.02	T	-0.975	T	0.005	T	0.427	1.748	11.80	-0.095	0.183	0.052	2.536	0.081	.	.	.	0.0756	0.0608	0.0649	0.1536	0.1036	0.0744	0.0567	0.0477	0.0612476	9469	154602	rs77665001	3.623e-05	0.0006	3.746e-05	3.498e-05	6.167e-05	2.813e-05	2.547e-05	2.757e-05	2.427e-05	6.167e-05	2.273e-05	0	5.218e-05	9.623e-05	0	3.658e-05	3.402e-05	0	2.113e-05	0.0007	0	4.407e-05	4.608e-05	3.51e-06	1.31e-06	.	.	4.608e-05	0	0	0	0	0	0	2.056e-05	0	0	0.01	0.56456	D	0.028	0.54934	D	0.087	0.24971	B	0.01	0.14941	B	0.072641	0.21396	U	0.232653	0.998462	0.22137	N	.	.	.	4.02	0.03178	T	-4.6	0.78976	D	0.091	0.06990	-0.9745	0.36235	T	0.005	0.01761	T	10	0.0033483803	0.00058	T	.	.	.	0.081	0.23632	.	.	.	.	0.4886347790284662	0.48783	0.845847542206	0.68292	.	.	.	0.049552	0.28339	T	-0.171938	0.24943	T	-0.484754	0.23942	T	0.0577189491966582	0.06805	T	0.156384	0.01374	T	0.33154765	0.55598	0.21594661	0.46203	0.33154765	0.55598	0.21594661	0.46202	-11.025	0.79796	D	.	.	0.138	0.30049	B	.;.	.;.	3.074374	0.41339	21.3	0.99498701463246364	0.67916	0.07090	0.13116	N	AEFDBHCI	0.280251	0.39411	N	-0.58319343736692	0.19454	1.018365	-0.652664211715875	0.18149	0.9682657	0.999991412378256	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-0.095	0.12979	0.423000	0.21032	.	.	-0.218000	0.08083	0.005000	0.17040	0.000000	0.08366	0.484000	0.28656	0.2793:0.0:0.3821:0.3386	2.536	0.04428	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	chr6:31323262	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	0.02381	55.98	208	chr6	31355485	.	G	A	55.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.80;DP=4223;ExcessHet=0.0000;FS=40.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.77;MQRankSum=-1.551e+01;QD=0.19;ReadPosRankSum=-2.250e-01;SOR=3.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:277,22:299:70:0|1:31355477_G_C:70,0,11063:31355477	20	0	1	0
chr6	31356181	31356181	T	0	exonic	HLA-B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	57800.2	50	chr6	31356181	.	T	G,*	57800.2	.	AC=38,3;AF=0.905,0.071;AN=42;BaseQRankSum=1.60;DP=1491;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=38,3;MLEAF=0.905,0.071;MQ=50.44;MQRankSum=-8.849e+00;QD=30.79;ReadPosRankSum=-3.020e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,76,0:76:99:1|1:31356168_A_C:3373,229,0,3373,229,3373:31356168	0	17	1	0
chr6	31356197	31356197	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.G589A:p.E197K,	.	.	8	1465	49	0	0	49	0.0164485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.985	D	0.805	U	0.897	N	3.645	H	5.6	T	-1.056	T	0.010	T	0.681	1.853	12.16	1.3	0.183	0.314	7.479	0.165	.	.	.	0.0189	0.0129	0.0199	0.0348	0.0234	0.0147	0.0177	0.0294	3.84e-05	1	26028	rs41545114	0.0004	0.0031	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0002	0.0014	0.0001	0.0013	0.0011	0.0003	0.0003	0.0003	0.0004	0.0004	0.0059	0.0004	0.0004	0.0007	0.0003	0.0002	0.0002	0.0001	0.0004	0	0.0007	0	0	0.0008	0	0.0003	0.0016	0	0.012	0.65419	D	0.021	0.58089	D	0.632	0.40232	P	0.417	0.44992	B	0.805050	0.09294	U	0.866418	0.896629	0.27782	N	.	.	.	5.6	0.00825	T	-3.0	0.62343	D	0.082	0.05799	-1.0564	0.12672	T	0.010	0.03492	T	10	0.0079647	0.00181	T	.	.	.	0.165	0.42395	.	.	.	.	0.2591834140118568	0.25832	0.873438287621	0.69479	.	.	.	0.016952	0.13915	T	-0.0549219	0.43696	T	-0.316668	0.42939	T	0.0505667294951351	0.05598	T	0.630337	0.25361	T	0.36580047	0.58273	0.28238165	0.54226	0.36580047	0.58274	0.28238165	0.54225	-7.553	0.57982	D	.	.	0.117	0.42433	B	.;.;.	.;.;.	3.080477	0.41440	21.4	0.94945969232258332	0.25847	0.16475	0.19406	N	AEFDBHCI	0.108565	0.21592	N	-0.152863992918151	0.35113	2.012754	-0.417645654591778	0.24479	1.340699	0.999995060563035	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	1.3	0.20778	-0.350000	0.07769	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.0:0.7684:0.0:0.2316	7.479	0.26562	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	191.98	48	chr6	31356197	.	C	T	191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=1485;ExcessHet=0.0000;FS=14.260;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.78;MQRankSum=-9.330e-01;QD=2.37;ReadPosRankSum=-1.551e+00;SOR=3.100	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,10:81:99:0|1:31356192_G_A:206,0,2860:31356192	20	0	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21954.91	76	chr6	31356247	.	C	A,*	21954.91	.	AC=18,9;AF=0.429,0.214;AN=42;BaseQRankSum=5.54;DP=2356;ExcessHet=8.1482;FS=3.246;InbreedingCoeff=-0.3481;MLEAC=18,9;MLEAF=0.429,0.214;MQ=47.98;MQRankSum=-2.470e+00;QD=9.84;ReadPosRankSum=-1.782e+00;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,38,0:130:99:.:.:773,0,2179,1048,2293,3341	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|1:0,8,0:8:24:1|1:31356399_C_G:341,24,0,341,24,341:31356399	2	3	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	858.89	101	chr6	31356748	.	CCT	*,C	858.89	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=54.46;QD=0.42;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,120,0:120:99:1|1:31356739_C_A:5400,361,0,5400,361,5400:31356739	0	20	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	29744.11	115	chr6	31356827	.	T	C,*	29744.11	.	AC=12,23;AF=0.286,0.548;AN=42;DP=3294;ExcessHet=2.5830;FS=0.696;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=51.01;QD=9.20;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,191:191:99:1|1:31356809_C_T:8585,8585,8585,575,575,0:31356809	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	1/2:0,23,16:39:99:.:.:1771,695,597,852,0,917	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	2/2:0,0,23,0:39:97:.:.:1174,1071,1104,98,97,0,1071,1104,97,1104	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|1:104,31:135:99:0|1:31625601_T_C:490,0,3506:31625601	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|1:104,31,0:135:99:0|1:31625601_T_C:490,0,3506,800,3598,4399:31625601	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|1:104,31,0:135:99:0|1:31625601_T_C:490,0,3506,800,3598,4399:31625601	0	0	18	2
chr6	31770042	31770042	C	G	exonic	VWA7	.	nonsynonymous SNV	VWA7:NM_025258:exon8:c.G1159C:p.G387R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	N	1.000	D	3.12	M	-4.99	D	1.099	D	0.970	D	0.923	5.106	32	5.77	2.737	2.692	17.476	0.859	0.382536251345	0.0006	0.000798722	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0	0.0001	0.0002005	31	154602	rs139629177	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	3.826e-05	0.0001	9.557e-05	0.0002	0.0003	0.0004	0.0001	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0011	0.0001	0	0.0006	0	0	0.0004	0.0009	0	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	N	0.054728	0.999996	0.58761	D	2.64	0.77224	M	-4.99	0.98507	D	-6.55	0.91827	D	0.721	0.72299	1.099	0.99603	D	0.970	0.99068	D	10	0.7772854	0.77563	D	0.382536	0.93005	D	0.859	0.95691	0.554	0.67133	0.860134384049	0.85878	0.8068829448024164	0.80643	0.998807658357	0.74341	0.587986767292	0.51209	T	0.358821	0.72532	T	0.248883	0.78496	D	0.501695	0.94650	D	0.899022877216339	0.55124	D	.	.	.	0.4187118	0.62006	0.31914598	0.57878	0.4187118	0.62006	0.31914598	0.57877	-3.133	0.11679	T	.	.	0.436	0.61485	A	.	.	4.232157	0.64097	24.7	0.99939990095006093	0.99767	0.77015	0.37822	D	ALL	0.572521	0.57606	D	0.81297688879816	0.86912	9.03981	0.759839886209209	0.86892	9.036705	1.0	0.98316	0.696267	0.57585	0	0.637152	0.57089	0	0.659943	0.59835	0	0.636	0.56748	0	.	.	5.77	5.77	0.91077	2.762000	0.47278	.	.	0.596000	0.33519	0.999000	0.42656	0.061000	0.22037	0.949000	0.49496	0.0:1.0:0.0:0.0	17.476	0.87552	895	0.25842	.	.	.	.	.	.	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	1234.98	40	chr6	31770042	.	C	G	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.500e+00;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.056;SOR=0.742	GT:AD:DP:GQ:PL	0/1:47,57:104:99:1249,0,1078	20	0	1	0
chr6	31996553	31996553	T	G	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon28:c.T3629G:p.L1210R	.	.	2	1448	71	1	0	73	0.0245874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	.	.	1.000	P	-1.74	N	1.55	T	-0.939	T	0.004	T	0.204	-2.519	0.003	-6.54	-1.736	-0.759	5.704	0.061	.	.	.	0.0058	0.0056	0.0100	0.0069	0.0007	0.0063	0.0040	0.0036	3.23e-05	5	154602	rs28357076	0.0007	0.0025	0.0006	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0015	0.0009	0.0002	0.0021	0.0007	0.0014	0.0005	0.0007	0.0012	0.0014	0.0042	0.0014	0.0015	0.0024	0.0013	0.0012	0.0020	0.0019	0.0024	0	0.0017	0.0006	0.0023	0.0001	0	0.0010	0.0010	0.0011	0.917	0.02327	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.88	0.00248	N	1.55	0.29866	T	1.17	0.01121	N	0.065	0.06587	-0.9386	0.42837	T	0.004	0.01365	T	8	0.005549848	0.00123	T	.	.	.	0.061	0.17616	.	.	.	.	0.3103683523119763	0.30949	.	.	.	.	.	0.003124	0.02525	T	-0.653859	0.00069	T	-0.682724	0.06818	T	0.000517572450278177	0.00004	T	0.369963	0.08710	T	0.0992703	0.23427	0.069453366	0.14635	0.0992703	0.23426	0.069453366	0.14634	1.17	0.00123	T	.	.	0.045	0.00043	B	.;.	.;.	-1.765232	0.00169	0.002	0.49284754452001944	0.04184	0.00039	0.00329	N	AEFDI	0.125283	0.24172	N	-2.27395090326263	0.00052	0.002238132	-2.26176583485372	0.00081	0.003562557	0.126218125399761	0.16995	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.53	-6.54	0.01692	-0.915000	0.04142	.	.	-3.027000	0.00136	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3386:0.0:0.5066:0.1548	5.704	0.17166	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	Likely benign	0	0	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	1843.98	33	chr6	31996553	.	T	G	1843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.624;DP=959;ExcessHet=0.0000;FS=2.858;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.44;MQRankSum=-3.984e+00;QD=21.69;ReadPosRankSum=0.495;SOR=0.925	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,48:85:99:0|1:31996553_T_G:1858,0,1410:31996553	20	0	1	0
chr6	32182963	32182963	G	T	exonic	AGER	.	stopgain	AGER:NM_001136:exon6:c.C569A:p.S190X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.587	24.9	5.3	2.491	4.720	14.453	.	.	.	.	8.606e-06	0	0	0	0	1.58e-05	0	0	6.5e-06	1	154602	rs766063160	6.162e-06	6.156e-06	5.45e-06	6.881e-06	0.0003	2.9e-06	2.1e-06	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	6.295e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000081	0.52346	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.851	0.84713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436705	0.91863	D	0.38952	0.91763	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.	.;.;.;.;High;.;.;.	8.387534	0.97504	37	0.99316928179798991	0.59241	0.90109	0.51032	D	AEFBCI	0.052838	0.09468	N	0.704024676738869	0.79898	7.175712	0.538862912005789	0.70627	5.532966	0.999999975832824	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.3	5.3	0.74745	5.073000	0.64223	.	.	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.880000	0.42090	0.0:0.0:1.0:0.0	14.453	0.66971	929	0.16858	.;.;.;.;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1574.98	33	chr6	32182963	.	G	T	1574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.250e-01;DP=1137;ExcessHet=0.0000;FS=0.679;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-4.790e-01;SOR=0.789	GT:AD:DP:GQ:PL	0/1:57,62:119:99:1589,0,1442	20	0	1	0
chr6	32223891	32223893	AGC	-	exonic	NOTCH4	.	nonframeshift deletion	NOTCH4:NM_004557:exon1:c.36_38del:p.L16del,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	1/2:0,14,26,0,0:40:99:1629,1074,1031,564,0,551,1638,1076,600,1668,1638,1076,600,1668,1668	0	1	4	0
chr6	32223893	32223893	-	AGCAGCAGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCTGCTGCT:p.L16_C17insLLL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	1/2:0,14,26,0,0:40:99:1629,1074,1031,564,0,551,1638,1076,600,1668,1638,1076,600,1668,1668	0	1	4	0
chr6	32223893	32223893	-	AGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCT:p.L16_C17insL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	1/2:0,14,26,0,0:40:99:1629,1074,1031,564,0,551,1638,1076,600,1668,1638,1076,600,1668,1668	0	1	4	0
chr6	32443853	32443853	C	G	exonic	HLA-DRA	.	nonsynonymous SNV	HLA-DRA:NM_019111:exon4:c.C708G:p.I236M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.868	P	0.682	P	0.023	N	1.000	N	2.18	M	4.8	T	-0.951	T	0.006	T	0.262	1.437	10.75	1.51	0.387	0.692	5.216	0.031	0.00553422629597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0002	2.251e-05	3.852e-05	5.054e-05	0	0.0002	0.0002	0.0001	4.682e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.049	0.48336	D	0.868	0.47740	P	0.534	0.48679	P	0.022538	0.26616	N	0.440036	1	0.08975	N	.	.	.	4.52	0.01997	T	-1.48	0.38151	N	0.272	0.36148	-0.9512	0.40765	T	0.006	0.02168	T	10	0.18965468	0.34574	T	0.005534	0.14258	T	0.031	0.07369	0.423	0.46693	0.285775778912	0.28195	0.40217806261540645	0.40133	0.978554424983	0.73646	0.351977914572	0.18212	T	0.017956	0.14556	T	-0.187692	0.22597	T	-0.507383	0.21586	T	0.568630933761597	0.35182	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.37727	B	.;.	.;.	2.465798	0.31770	18.84	0.99386995428342506	0.62157	0.11209	0.16481	N	AEFGBHCI	0.629542	0.61122	D	-0.253195381785185	0.30976	1.732382	-0.431463029269619	0.24079	1.316614	0.999998429225293	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.36	1.51	0.22094	1.124000	0.30934	.	.	0.539000	0.25131	0.280000	0.25141	0.000000	0.08366	0.356000	0.25796	0.0:0.5975:0.1492:0.2533	5.216	0.14664	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	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	0.05	172.04	102	chr6	32443853	.	C	G	172.04	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-5.462e+00;DP=2926;ExcessHet=0.1072;FS=311.949;InbreedingCoeff=-0.0698;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=2.03;SOR=10.536	GT:AD:DP:GQ:PL	0/1:149,54:203:99:122,0,3382	18	0	2	1
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2340.92	49	chr6	32521970	.	G	GCC,*	2340.92	.	AC=2,14;AF=0.048,0.333;AN=42;BaseQRankSum=4.87;DP=2985;ExcessHet=0.3152;FS=19.972;InbreedingCoeff=0.1923;MLEAC=2,14;MLEAF=0.048,0.333;MQ=57.72;MQRankSum=-1.101e+01;QD=1.39;ReadPosRankSum=-6.282e+00;SOR=1.161	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:128,0,106:234:99:0|1:32521957_G_A:4053,4438,9813,0,5375,5056:32521957	9	0	2	0
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	31947.07	20	chr6	32521977	.	TG	T,CG,*,TCCG	31947.07	.	AC=10,5,5,2;AF=0.238,0.119,0.119,0.048;AN=42;BaseQRankSum=2.83;DP=2813;ExcessHet=0.0007;FS=6.870;InbreedingCoeff=0.6182;MLEAC=10,5,5,2;MLEAF=0.238,0.119,0.119,0.048;MQ=49.85;MQRankSum=-1.379e+00;QD=24.07;ReadPosRankSum=-3.581e+00;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,93,0,0,0:198:99:0|1:32521957_G_A:3589,0,4129,3905,4409,8314,3905,4409,8314,8314,3905,4409,8314,8314,8314:32521957	8	2	3	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	3841.37	20	chr6	32521978	.	GT	G,*	3841.37	.	AC=4,17;AF=0.100,0.425;AN=40;BaseQRankSum=4.25;DP=2847;ExcessHet=0.7352;FS=10.579;InbreedingCoeff=0.1102;MLEAC=4,18;MLEAF=0.100,0.450;MQ=55.69;MQRankSum=-5.960e+00;QD=2.22;ReadPosRankSum=-4.343e+00;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:105,0,93:198:99:0|1:32521957_G_A:3589,3905,8314,0,4409,4129:32521957	5	0	4	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	29160.55	20	chr6	32521981	.	T	TGC,C,*	29160.55	.	AC=15,3,4;AF=0.375,0.075,0.100;AN=40;BaseQRankSum=0.770;DP=2811;ExcessHet=1.5433;FS=18.058;InbreedingCoeff=0.0082;MLEAC=16,3,4;MLEAF=0.400,0.075,0.100;MQ=49.06;MQRankSum=-4.980e-01;QD=15.25;ReadPosRankSum=-1.678e+00;SOR=1.050	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,93,0,0:191:99:0|1:32521957_G_A:3610,0,3835,3905,4115,8020,3905,4115,8020,8020:32521957	4	5	4	1
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	754.62	135	chr6	32522104	.	G	T,*	754.62	.	AC=2,9;AF=0.053,0.237;AN=38;BaseQRankSum=1.88;DP=2410;ExcessHet=0.5777;FS=19.455;InbreedingCoeff=0.1270;MLEAC=2,10;MLEAF=0.053,0.263;MQ=43.31;MQRankSum=-5.040e-01;QD=1.10;ReadPosRankSum=-2.490e+00;SOR=1.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:43,0,22:65:99:0|1:32522075_A_G:763,893,2698,0,1806,1739:32522075	10	0	2	2
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	50186.86	152	chr6	32522156	.	T	A,G,*,C	50186.86	.	AC=14,6,6,1;AF=0.368,0.158,0.158,0.026;AN=38;BaseQRankSum=-2.391e+00;DP=2479;ExcessHet=0.0000;FS=4.483;InbreedingCoeff=0.8143;MLEAC=15,7,7,1;MLEAF=0.395,0.184,0.184,0.026;MQ=47.59;MQRankSum=-1.347e+01;QD=31.15;ReadPosRankSum=3.03;SOR=0.362	GT:AD:DP:GQ:PGT:PID:PL:PS	1|3:0,33,0,23,0:56:99:0|1:32522156_T_*:2351,966,866,2351,966,2351,1386,0,1386,1316,2351,966,2351,1386,2351:32522156	5	1	0	2
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	11250.32	146	chr6	32522157	.	C	G,*	11250.32	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=-1.800e-01;DP=2451;ExcessHet=0.0017;FS=0.000;InbreedingCoeff=0.5718;MLEAC=10,7;MLEAF=0.250,0.175;MQ=47.72;MQRankSum=-1.968e+00;QD=12.26;ReadPosRankSum=3.14;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,33,23:56:99:0|1:32522156_T_*:2351,966,866,1386,0,1316:32522156	10	1	3	1
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	11366.22	146	chr6	32522159	.	T	*,A	11366.22	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=-3.000e-01;DP=2451;ExcessHet=0.0011;FS=0.000;InbreedingCoeff=0.5934;MLEAC=6,10;MLEAF=0.143,0.238;MQ=47.73;MQRankSum=-1.671e+00;QD=12.50;ReadPosRankSum=3.36;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,24,33:57:99:0|1:32522156_T_*:2418,1389,1313,1011,0,908:32522156	11	0	2	0
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14818.53	115	chr6	32530183	.	CTT	*,C	14818.53	.	AC=5,17;AF=0.119,0.405;AN=42;BaseQRankSum=2.59;DP=2163;ExcessHet=0.2144;FS=6.037;InbreedingCoeff=0.1918;MLEAC=5,18;MLEAF=0.119,0.429;MQ=53.28;MQRankSum=-6.845e+00;QD=10.59;ReadPosRankSum=-2.181e+00;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,51:51:99:1|1:32530183_CTT_C:2287,2287,2287,154,154,0:32530183	6	1	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,51,0:51:99:1|1:32530183_CTT_C:2287,2287,2287,154,154,0,2287,2287,154,2287:32530183	0	3	1	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	53589.95	112	chr6	32530185	.	T	TGC,*,C	53589.95	.	AC=5,18,14;AF=0.119,0.429,0.333;AN=42;BaseQRankSum=0.157;DP=2296;ExcessHet=1.1607;FS=2.990;InbreedingCoeff=-0.1351;MLEAC=5,18,14;MLEAF=0.119,0.429,0.333;MQ=55.53;MQRankSum=0.00;QD=24.29;ReadPosRankSum=-2.360e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,51,0:51:99:1|1:32530183_CTT_C:2287,2287,2287,154,154,0,2287,2287,154,2287:32530183	0	1	0	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|1:0,396,0:396:99:1|1:32584353_C_A:17640,1190,0,17641,1191,17642:32584353	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	1|1:0,396,0,0:396:99:1|1:32584353_C_A:17640,1190,0,17641,1191,17642,17641,1191,17642,17642:32584353	2	4	8	2
chr6	32584357	32584357	T	0	exonic	HLA-DRB1	.	.	.	.	.	88	536	775	35	88	933	0.440793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	58783.46	171	chr6	32584357	.	T	G,*	58783.46	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=-3.436e+00;DP=5785;ExcessHet=6.1794;FS=7.618;InbreedingCoeff=-0.3166;MLEAC=12,2;MLEAF=0.300,0.050;MQ=54.27;MQRankSum=1.64;QD=13.90;ReadPosRankSum=-3.470e-01;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,232,0:371:99:0|1:32584357_T_G:9278,0,5094,9697,5792,15489:32584357	7	0	12	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	77795.68	157	chr6	32584370	.	G	*,A	77795.68	.	AC=12,17;AF=0.316,0.447;AN=38;BaseQRankSum=3.82;DP=5453;ExcessHet=0.1204;FS=4.284;InbreedingCoeff=0.3021;MLEAC=13,18;MLEAF=0.342,0.474;MQ=52.94;MQRankSum=-1.218e+01;QD=17.06;ReadPosRankSum=-1.291e+00;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,210,125:335:99:0|1:32584366_C_T:14292,5264,4617,8833,0,8442:32584366	2	0	3	2
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12898.36	213	chr6	32641444	.	G	C,*	12898.36	.	AC=10,14;AF=0.238,0.333;AN=42;BaseQRankSum=3.77;DP=4027;ExcessHet=1.2156;FS=8.630;InbreedingCoeff=0.0278;MLEAC=10,14;MLEAF=0.238,0.333;MQ=56.94;MQRankSum=-9.014e+00;QD=4.08;ReadPosRankSum=-2.282e+00;SOR=0.880	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,96:96:99:1|1:32641430_C_T:4320,4320,4320,289,289,0:32641430	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	1|1:0,96,0:96:99:1|1:32641430_C_T:4320,289,0,4320,289,4320:32641430	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	2|2:0,0,91:91:99:1|1:32641430_C_T:4088,4088,4088,274,274,0:32641430	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	2|2:0,0,91:91:99:1|1:32641430_C_T:4088,4088,4088,274,274,0:32641430	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	2|2:0,0,62,0:62:99:1|1:32641476_G_A:2790,2790,2790,187,187,0,2790,2790,187,2790:32641476	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	3|3:0,0,0,73:73:99:1|1:32641476_G_A:3153,3153,3153,3153,3153,3153,220,220,220,0:32641476	4	0	1	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	3|3:0,0,0,73:73:99:1|1:32641476_G_A:3153,3153,3153,3153,3153,3153,220,220,220,0:32641476	4	0	1	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L	.	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.022	B	0.025	B	0.941	U	0.979	N	-0.55	N	7.87	T	-1.065	T	0.000	T	0.194	0.074	4.399	0.193	-0.489	0.016	5.435	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	85390.2	233	chr6	32664917	.	C	G,A	85390.2	.	AC=14,9;AF=0.333,0.214;AN=42;BaseQRankSum=0.684;DP=5279;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=14,9;MLEAF=0.333,0.214;MQ=59.41;MQRankSum=-1.614e+00;QD=23.27;ReadPosRankSum=-2.039e+00;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,278,0:280:99:1|1:32664917_C_G:12400,793,0,12406,837,12449:32664917	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	2|2:0,0,101:101:99:1|1:32666523_G_C:4523,4523,4523,304,304,0:32666523	1	1	0	0
chr6	33297033	33297033	A	C	exonic	RGL2	.	nonsynonymous SNV	RGL2:NM_004761:exon3:c.T239G:p.L80W,	.	.	.	.	.	.	.	.	.	0.0004	0.038	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.876	P	0.221	B	0.073	N	1.000	D	1.1	L	2.77	T	-0.962	T	0.010	T	0.295	1.987	12.60	0.488	0.202	-0.060	6.461	0.086	0.00528493007512	0.0002	.	0.0002	0	8.706e-05	0	0	0.0003	0.0012	0	0.000194	30	154602	rs139385178	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0001	0	0.0002	0.0026	0	0	0.0005	0.0002	0.0004	8.661e-05	0.0002	0.0002	0.0003	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	4.825e-05	0	0.0001	0.0020	0	0	0	0.0003	0	0	0.023	0.48186	D	0.12	0.35970	T	0.876	0.48154	P	0.221	0.37837	B	0.073006	0.02272	N	1.969860	1	0.81001	D	0.695	0.17993	N	2.77	0.11407	T	0.31	0.11008	N	0.357	0.39861	-0.9624	0.38723	T	0.010	0.03627	T	10	0.017626762	0.00378	T	0.005285	0.13494	T	0.086	0.25016	.	.	0.383921772103	0.37999	0.4012227797257212	0.40037	0.887839185907	0.70081	0.390135377645	0.23689	T	0.02842	0.20594	T	-0.418712	0.01743	T	-0.54574	0.17737	T	0.0297025066751787	0.01944	T	.	.	.	0.07154659	0.15849	0.080445506	0.18198	0.07154659	0.15848	0.080445506	0.18198	-7.168	0.55251	T	.	.	0.092	0.17146	B	.;.	.;.	2.186056	0.27867	17.61	0.92899741465048247	0.22454	0.67889	0.33597	D	AEFDBCI	0.397860	0.47376	N	-0.121747489663462	0.36446	2.106806	-0.120908559241993	0.34547	1.988538	0.999997217120777	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.44	0.488	0.16056	-0.207000	0.09388	0.464000	0.18647	0.743000	0.86499	0.546000	0.27314	0.002000	0.18203	0.999000	0.91618	0.6438:0.0:0.3562:0.0	6.461	0.21154	653	0.62661	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2015.98	33	chr6	33297033	.	A	C	2015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.016e+00;DP=878;ExcessHet=0.0000;FS=1.944;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.063;SOR=0.630	GT:AD:DP:GQ:PL	0/1:79,84:163:99:2030,0,2003	20	0	1	0
chr6	33315817	33315817	G	A	exonic	ZBTB22	.	nonsynonymous SNV	ZBTB22:NM_001145338:exon2:c.C1100T:p.P367L	.	.	417	1098	7	0	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.9	P	0.22	B	0.005	N	0.999	D	0.805	L	3.49	T	-0.710	T	0.006	T	0.532	0.740	7.926	4.09	2.107	3.861	13.851	0.085	0.0165891258494	0.0002	0.000998403	0.0007	9.615e-05	0.0002	0.0024	0	0.0005	0	0.0017	0.0006339	98	154602	rs144433957	0.0004	0.0004	0.0004	0.0005	0.0024	0.0004	0.0004	0.0015	0.0014	0.0001	0.0002	0.0037	0.0019	0	0.0024	0.0002	0.0007	0.0017	0.0003	0.0003	0.0003	0.0002	0.0019	0.0002	0.0002	0.0010	0.0007	0	0	0.0001	0.0020	0.0012	0	0.0034	0.0002	0.0009	0.0019	0.17	0.22833	T	0.377	0.16134	T	0.9	0.49598	P	0.22	0.37792	B	0.005015	0.33181	N	0.000000	0.998722	0.45339	D	0.805	0.20218	L	3.49	0.05071	T	-0.19	0.09965	N	0.134	0.13198	-0.7096	0.59972	T	0.006	0.01870	T	10	0.00542295	0.00119	T	0.016589	0.37919	T	0.085	0.24743	.	.	0.44318313171	0.43938	0.3568708772449162	0.35601	0.634268845006	0.57287	0.681673705578	0.64509	T	0.006876	0.06306	T	-0.467899	0.00876	T	-0.450739	0.27616	T	0.0370227934690009	0.03159	T	0.780822	0.41560	T	0.15056697	0.34271	0.21324982	0.45827	0.15056697	0.34270	0.21324982	0.45827	-3.056	0.10798	T	.	.	0.178	0.38782	B	.;.	.;.	2.784147	0.36579	20.3	0.81510298013693272	0.13721	0.69865	0.34358	D	AEFBCI	0.247420	0.36800	N	0.0393857772258344	0.43655	2.654243	0.101876411518386	0.44643	2.742195	0.999995624337189	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.636168	0.56350	0	.	.	4.09	4.09	0.47038	2.641000	0.46254	7.439000	0.58857	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	13.851	0.62994	616	0.66398	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1347.98	34	chr6	33315817	.	G	A	1347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=793;ExcessHet=0.0000;FS=0.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=0.965;SOR=0.818	GT:AD:DP:GQ:PL	0/1:40,49:89:99:1362,0,969	20	0	1	0
chr6	33405054	33405054	T	C	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon7:c.T959C:p.V320A,	.	.	402	1105	13	2	0	17	0.00763359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.016	B	0.015	B	0.017	N	0.948	D	-0.025	N	1.0	T	-1.057	T	0.022	T	0.163	2.195	13.30	4.26	2.279	2.081	5.338	0.080	0.00316937780823	0.0002	0.00199681	0.0010	9.649e-05	0.0006	0.0028	0	0.0007	0	0.0029	0.0009832	152	154602	rs149106445	0.0006	0.0006	0.0005	0.0007	0.0047	0.0006	0.0005	0.0033	0.0028	0.0001	0.0005	0.0038	0.0021	0	0.0047	0.0003	0.0011	0.0027	0.0004	0.0004	0.0004	0.0004	0.0031	0.0004	0.0003	0.0019	0.0015	4.81e-05	0	0.0004	0.0026	0.0014	0	0.0102	0.0003	0.0014	0.0031	0.13	0.26740	T	0.176	0.29843	T	0.016	0.17332	B	0.015	0.17295	B	0.016577	0.27944	N	0.371861	0.948109	0.37596	D	0.365	0.12025	N	1.0	0.41392	T	-1.82	0.42763	N	0.12	0.11054	-1.0574	0.12414	T	0.022	0.09330	T	10	0.008636802	0.00196	T	0.003169	0.06936	T	0.080	0.23350	.	.	0.504541157375	0.50091	0.4630334206756604	0.46222	0.481891860051	0.47163	0.637899279594	0.58265	T	0.036619	0.24171	T	-0.522888	0.00423	T	-0.528172	0.19469	T	0.00617480142371303	0.00068	T	.	.	.	0.103075996	0.24361	0.10514459	0.25270	0.103075996	0.24361	0.10514459	0.25269	-4.085	0.25068	T	.	.	0.097	0.15966	B	.	.	2.926918	0.38873	20.8	0.98247475137208662	0.39539	0.70780	0.34733	D	AEFDBCI	0.093667	0.18950	N	-0.314474572505403	0.28597	1.578677	-0.101325459073743	0.35337	2.043223	0.999978134242809	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	4.26	0.49832	1.547000	0.35798	3.989000	0.40972	0.665000	0.62972	0.496000	0.26925	1.000000	0.68203	0.994000	0.71098	0.0:0.1839:0.0:0.8161	5.338	0.15274	366	0.84579	Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2254.98	33	chr6	33405054	.	T	C	2254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=873;ExcessHet=0.0000;FS=5.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-9.500e-01;SOR=1.007	GT:AD:DP:GQ:PL	0/1:95,89:184:99:2269,0,2285	20	0	1	0
chr6	34528877	34528877	G	C	exonic	PACSIN1	.	nonsynonymous SNV	PACSIN1:NM_001199583:exon4:c.G456C:p.E152D	.	.	.	.	.	.	.	.	.	1.0000	0.978	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.553	P	0.083	B	0.000	D	1.000	D	1.95	M	2.41	T	-1.008	T	0.071	T	0.436	2.919	15.73	3.78	2.110	9.566	15.812	0.244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28646	T	0.165	0.30926	T	0.553	0.38185	P	0.083	0.29179	B	0.000002	0.62929	D	0.057166	1	0.81001	D	2.38	0.68558	M	2.41	0.48142	T	-1.81	0.42575	N	0.616	0.64223	-1.0078	0.27603	T	0.071	0.28969	T	10	0.4428772	0.58213	T	0.024482	0.47468	T	0.244	0.55061	0.294	0.25720	0.603040811188	0.59987	0.16305492827728518	0.16225	0.503798904839	0.48685	0.678037703037	0.63986	T	0.217569	0.58004	T	-0.0396076	0.46008	T	-0.29467	0.45284	T	0.786065635174898	0.45434	D	0.929307	0.73951	D	0.41346648	0.61654	0.24255277	0.49678	0.41346648	0.61655	0.24255277	0.49677	-4.274	0.27811	T	.	.	0.186	0.41572	B	.;.;.;.	.;.;.;.	6.345052	0.95053	34	0.99146723813992677	0.53682	0.99349	0.94855	D	AEFBI	0.935786	0.93115	D	0.223423782744756	0.52335	3.408396	0.272362554212518	0.53931	3.559894	0.999999999990351	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	3.78	3.78	0.42629	9.911000	0.98680	11.737000	0.95113	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	15.812	0.78346	632	0.64850	F-BAR domain|PACSIN1, F-BAR;F-BAR domain;F-BAR domain|PACSIN1, F-BAR;F-BAR domain|PACSIN1, F-BAR	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1176	99.15	53	chr6	34528877	.	G	C	99.15	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-2.849e+00;DP=1213;ExcessHet=0.6776;FS=95.332;InbreedingCoeff=-0.1646;MLEAC=4;MLEAF=0.118;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=1.10;SOR=7.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,15:67:65:0|1:34528877_G_C:65,0,1729:34528877	13	0	4	4
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.206	16.74	3.65	2.045	3.808	15.531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	524.24	53	chr6	34528878	.	G	C	524.24	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-7.030e-01;DP=1276;ExcessHet=4.7172;FS=105.745;InbreedingCoeff=-0.4484;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.745;SOR=9.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,15:67:65:0|1:34528877_G_C:65,0,1729:34528877	3	0	9	9
chr6	36291365	36291365	A	G	exonic	PNPLA1	.	nonsynonymous SNV	PNPLA1:NM_001145717:exon2:c.A251G:p.K84R	Ichthyosis, congenital, autosomal recessive 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.23	B	0.175	B	0.084	U	1.000	N	0.69	N	-1.03	T	-0.990	T	0.142	T	0.147	3.036	16.13	4.1	0.844	5.048	9.160	0.172	0.0249937709916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.18889	T	0.115	0.36630	T	0.23	0.30574	B	0.175	0.35598	B	0.084103	0.20715	U	0.331596	1	0.81001	D	1.53	0.38800	L	-1.03	0.76430	T	-1.81	0.42575	N	0.223	0.25006	-0.9904	0.32500	T	0.142	0.46275	T	10	0.18578598	0.34015	T	0.024994	0.47983	T	0.172	0.43662	0.345	0.33950	0.768449596528	0.76632	.	.	0.213063653711	0.23811	0.510883152485	0.40347	T	0.005896	0.05345	T	-0.0814537	0.39477	T	-0.354779	0.38655	T	0.691809058189392	0.40331	D	0.642236	0.25428	T	0.08893341	0.20763	0.1472266	0.34849	0.08893341	0.20763	0.1472266	0.34848	-5.181	0.38748	T	.	.	0.096	0.17146	B	.;.	.;.	2.766790	0.36307	20.2	0.99632889771362543	0.76142	0.95053	0.63266	D	ALL	0.609417	0.59862	D	-0.14403188675947	0.35489	2.039126	0.00882416738919273	0.40123	2.390	0.999999999999999	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.631631	0.49550	0	.	.	5.26	4.1	0.47196	4.497000	0.60088	6.716000	0.56415	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9126:0.0:0.0874:0.0	9.160	0.36180	789	0.46346	Patatin-like phospholipase domain;Patatin-like phospholipase 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	0.1429	865.03	33	chr6	36291365	.	A	G	865.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-9.970e-01;DP=1831;ExcessHet=1.7912;FS=51.070;InbreedingCoeff=-0.1666;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.05;ReadPosRankSum=0.872;SOR=9.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,19:159:99:0|1:36291365_A_G:242,0,5590:36291365	15	0	6	0
chr6	37284381	37284381	C	T	exonic	TBC1D22B	.	nonsynonymous SNV	TBC1D22B:NM_017772:exon6:c.C718T:p.R240W,	.	.	.	.	.	.	.	.	.	.	.	2375923	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.72	H	2.7	T	-0.632	T	0.105	T	0.89	4.123	21.3	0.448	0.365	0.200	15.668	0.406	0.126932106778	.	.	8.257e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs751520700	7.529e-06	7.524e-06	9.535e-06	5.503e-06	1.161e-05	4.04e-06	2.95e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.095e-06	1.657e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.5	0.92762	M	2.7	0.12162	T	-7.3	0.94484	D	0.81	0.80572	-0.6318	0.63494	T	0.105	0.38562	T	10	0.805194	0.79867	D	0.126932	0.80867	D	0.406	0.71869	0.558	0.67684	0.784233792205	0.78223	0.7696648650756733	0.76915	1.6632084262	0.89711	0.822982311249	0.85485	D	0.400282	0.75790	T	0.174313	0.71518	D	0.0126119	0.71151	D	0.968269999533102	0.68184	D	0.996	0.98587	D	0.8140187	0.84820	0.67972904	0.81183	0.8140187	0.84821	0.67972904	0.81184	-11.71	0.83410	D	.	.	0.926	0.84689	P	.	.	4.888513	0.80238	27.3	0.99917729553936363	0.98518	0.88218	0.48048	D	AEFBI	0.496045	0.53116	N	0.510469416934911	0.67705	5.117717	0.36514936782804	0.59426	4.120226	0.658748262549821	0.22247	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	0.448	0.15824	0.212000	0.17289	2.205000	0.31320	0.599000	0.40250	0.985000	0.35982	1.000000	0.68203	0.998000	0.85391	0.5679:0.4321:0.0:0.0	15.668	0.77002	709	0.56835	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2043.98	35	chr6	37284381	.	C	T	2043.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=819;ExcessHet=0.0000;FS=3.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.89;ReadPosRankSum=0.757;SOR=1.101	GT:AD:DP:GQ:PL	0/1:42,79:121:99:2058,0,820	20	0	1	0
chr6	37390764	37390764	G	A	exonic	RNF8	.	nonsynonymous SNV	RNF8:NM_183078:exon7:c.G1259A:p.R420H,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	N	.	.	0.74	T	-0.969	T	0.040	T	0.149	1.464	10.84	-6.67	-1.418	-1.246	3.506	0.045	0.00100551078692	7.7e-05	0.000399361	2.473e-05	0	0	0	0	1.5e-05	0	0.0001	3.88e-05	6	154602	rs149383616	3.353e-05	3.625e-05	2.86e-05	3.851e-05	0.0009	2.567e-05	2.312e-05	0.0003	0.0002	0	0	0	0	0	0.0009	2.339e-05	6.626e-05	0.0002	6.567e-05	6.562e-05	8.995e-05	4.029e-05	0.0002	3.515e-05	2.615e-05	3.763e-05	2.575e-05	4.812e-05	0	0	0	0.0002	0	0	8.822e-05	0	0.0002	0.289	0.15047	T	0.413	0.14412	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.74	0.50459	T	2.35	0.00275	N	0.117	0.10626	-0.9694	0.37324	T	0.040	0.17106	T	6	0.037265718	0.02071	T	0.001006	0.01073	T	0.045	0.12272	.	.	0.346610688518	0.34274	.	.	.	.	.	.	.	.	.	.	-0.427433	0.01536	T	-0.615086	0.11575	T	0.0242274979422406	0.01173	T	0.359064	0.08235	T	.	.	.	.	.	.	.	.	-0.89	0.00886	T	.	.	0.076	0.06024	B	.	.	-0.793086	0.01120	0.051	0.93701735284392162	0.23613	0.00365	0.01864	N	AEFDBI	0.017416	0.00455	N	-1.19906809787613	0.05014	0.2276249	-1.42473961435914	0.03006	0.1394304	0.792881667662761	0.24046	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.58	-6.67	0.01618	-1.243000	0.03015	-0.102000	0.11930	-1.361000	0.01181	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.288:0.1335:0.4483:0.1303	3.506	0.07251	740	0.53092	.	.	.	.	.	.	Uncertain significance	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	683.98	34	chr6	37390764	.	G	A	683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.14;ReadPosRankSum=-1.599e+00;SOR=0.756	GT:AD:DP:GQ:PL	0/1:56,28:84:99:698,0,1451	20	0	1	0
chr6	42107169	42107169	C	T	exonic	C6orf132	.	nonsynonymous SNV	C6orf132:NM_001164446:exon4:c.G743A:p.R248H,	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	.	.	.	.	.	.	1.000	N	0	N	0.76	T	-1.005	T	0.019	T	0.09	-0.762	0.783	-7.09	-2.260	-1.633	5.999	0.006	0.00675561262423	.	.	0	0	0	0	0	0	0	0	0.0005379	14	26028	rs755603011	0.0010	0.0009	0.0010	0.0010	0.0019	0.0010	0.0010	0.0011	0.0011	0.0001	0.0009	0.0004	0	6.553e-05	0.0019	0.0012	0.0007	0.0004	0.0008	0.0009	0.0008	0.0009	0.0012	0.0007	0.0007	0.0010	0.0009	0.0003	0	0.0012	0.0006	0.0002	0.0001	0.0035	0.0012	0.0030	0.0005	0.136	0.26085	T	0.143	0.33219	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.315	0.10303	N	0.76	0.49919	T	-1.33	0.33197	N	0.032	0.00825	-1.0048	0.28517	T	0.019	0.08079	T	7	0.016800225	0.00356	T	0.006756	0.17840	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.06859667622863035	0.06797	.	.	.	.	.	0.050921	0.28731	T	-0.603568	0.00139	T	-0.669839	0.07618	T	0.00702890987105475	0.00080	T	0.384162	0.09403	T	0.024674643	0.01323	0.030097902	0.01424	0.024674643	0.01323	0.030097902	0.01424	-5.106	0.37971	T	.	.	0.079	0.07272	B	.	.	-0.759526	0.01189	0.058	0.65139694243992496	0.07689	0.00628	0.02764	N	AEFDBI	0.037416	0.05142	N	-1.33381318416161	0.03296	0.1469735	-1.54067789956866	0.02040	0.09328102	0.999969972087992	0.48965	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.54	-7.09	0.01399	-1.656000	0.02083	-11.991000	0.00559	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.1311:0.3209:0.0:0.548	5.999	0.18740	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	811.98	42	chr6	42107169	.	C	T	811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=808;ExcessHet=0.0000;FS=3.135;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=1.53;SOR=0.379	GT:AD:DP:GQ:PL	0/1:43,34:77:99:826,0,953	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	0/1:77,32:114:99:102,0,1284	4	0	14	3
chr6	44305114	44305114	C	G	exonic	AARS2	.	nonsynonymous SNV	AARS2:NM_020745:exon11:c.G1519C:p.V507L,	Combined oxidative phosphorylation deficiency 8, Autosomal recessive;Leukoencephalopathy, progressive, with ovarian failure, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	266175	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.018	B	0.039	B	0.004	N	1.000	D	1.24	L	-0.1	T	-1.084	T	0.072	T	0.08	1.936	12.43	0.986	0.110	0.103	6.241	0.040	0.0118770163491	.	0.000399361	3.296e-05	0	0	0.0003	0	1.5e-05	0	0	3.88e-05	6	154602	rs182596701	5.473e-06	5.472e-06	2.723e-06	8.251e-06	0.0002	2.35e-06	1.7e-06	8.198e-05	5.784e-05	0	0	0	0.0002	0	0	8.993e-07	0	0	2.626e-05	2.624e-05	1.285e-05	4.027e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.321	0.13522	T	0.231	0.25061	T	0.018	0.17786	B	0.039	0.23607	B	0.003754	0.34535	N	0.277539	0.955672	0.81001	D	1.32	0.33002	L	-0.1	0.64264	T	-1.74	0.41239	N	0.095	0.07535	-1.0838	0.06628	T	0.072	0.29098	T	10	0.020444691	0.00471	T	0.011877	0.29939	T	0.040	0.10527	0.45	0.51121	0.524584940466	0.52104	0.5340116045202374	0.53326	0.235666090612	0.26095	0.332209199667	0.15268	T	0.125078	0.45055	T	-0.430707	0.01468	T	-0.536448	0.18647	T	0.0508620247647817	0.05651	T	0.848015	0.52922	T	0.046427928	0.07767	0.05191496	0.08450	0.046427928	0.07767	0.05191496	0.08450	-3.38	0.14788	T	.	.	0.109	0.20934	B	.	.	1.034402	0.14145	10.72	0.96221837557056111	0.29088	0.12682	0.17416	N	AEFDGBHCI	0.202684	0.32926	N	-0.607302768717073	0.18723	0.9743992	-0.549154972637436	0.20829	1.123982	0.999999978194986	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.67197	0.60751	0	0.691587	0.68394	0	.	.	5.01	0.986	0.18902	0.061000	0.14242	0.428000	0.18294	0.580000	0.29708	0.002000	0.15269	0.094000	0.22579	0.881000	0.42162	0.0:0.5324:0.2498:0.2178	6.241	0.20000	803	0.44167	Alanyl-tRNA synthetase, class IIc, N-terminal|Alanyl-tRNA synthetase, class IIc, core 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	928.98	33	chr6	44305114	.	C	G	928.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.400e-02;DP=799;ExcessHet=0.0000;FS=1.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.88;ReadPosRankSum=-3.400e-02;SOR=0.664	GT:AD:DP:GQ:PL	0/1:52,42:94:99:943,0,1240	20	0	1	0
chr6	45422775	45422783	GCGGCGGCT	-	exonic	RUNX2	.	nonframeshift deletion	RUNX2:NM_001278478:exon1:c.199_207del:p.A73_A75del	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253741091	0	6.848e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13028.27	37	chr6	45422774	.	GGCGGCGGCT	AGCGGCGGCT,G	13028.27	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-2.600e-02;DP=1348;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=17.82;ReadPosRankSum=2.23;SOR=0.665	GT:AD:DP:GQ:PL	0/1:69,104,0:173:99:2609,0,1407,2799,1717,4517	16	1	3	0
chr6	46689536	46689536	G	A	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.G1408A:p.D470N	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.9	P	0.371	B	0.140	N	1.000	N	0.69	N	2.47	T	-1.005	T	0.013	T	0.023	0.825	8.323	5.82	2.745	2.901	12.537	0.109	.	7.7e-05	0.0153754	0.0059	0.0002	0	0.0768	0	5.996e-05	0.0033	0.0023	0.0054721	846	154602	rs142765925	0.0018	0.0018	0.0018	0.0018	0.0494	0.0017	0.0017	0.0476	0.0469	0.0002	8.944e-05	0.0002	0.0494	0	0.0002	4.137e-05	0.0053	0.0029	0.0031	0.0031	0.0028	0.0033	0.0733	0.0028	0.0027	0.0672	0.0648	0.0003	0	0.0012	0.0012	0.0733	0	0	0.0001	0.0043	0.0071	0.059	0.37536	T	0.11	0.37449	T	0.839	0.46454	P	0.205	0.37080	B	0.140009	0.18323	N	0.591327	1	0.08975	N	1.59	0.40313	L	2.47	0.14783	T	-0.64	0.18670	N	0.176	0.18920	-1.0048	0.28517	T	0.013	0.05321	T	10	0.0025939047	0.00040	T	.	.	.	0.109	0.30843	.	.	0.527356302626	0.52384	0.2332353423243683	0.23238	0.0514255740683	0.05660	0.302000582218	0.10699	T	0.048007	0.27891	T	-0.737276	0.00022	T	-0.765879	0.02906	T	0.0391045540544767	0.03528	T	0.813419	0.46649	T	0.080301896	0.18392	0.07138637	0.15281	0.080301896	0.18391	0.07138637	0.15281	-4.16	0.26170	T	.	.	0.083	0.09143	B	.;.	.;.	2.691980	0.35142	19.82	0.99470250869973698	0.66312	0.30886	0.24197	N	AEFDBI	0.171086	0.29803	N	-0.0934038008132409	0.37680	2.195812	-0.0587741419455164	0.37112	2.168697	0.966806520581125	0.28930	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	3.024000	0.49358	5.742000	0.49579	0.676000	0.76740	0.327000	0.25564	1.000000	0.68203	0.923000	0.45890	0.0:0.0:0.8337:0.1663	12.537	0.55492	513	0.74941	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2499.98	99	chr6	46689536	.	G	A	2499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.600e-01;DP=1894;ExcessHet=0.0000;FS=1.134;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=2.29;SOR=0.595	GT:AD:DP:GQ:PL	0/1:94,93:187:99:2514,0,2725	20	0	1	0
chr6	47010050	47010050	C	G	exonic	ADGRF1	.	nonsynonymous SNV	ADGRF1:NM_153840:exon11:c.G1385C:p.G462A,	.	.	430	1064	27	1	0	29	0.0134446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.618	P	0.101	B	0.001	D	1.000	D	2.32	M	1.35	T	-1.066	T	0.053	T	0.176	2.542	14.46	4.32	1.296	1.372	16.104	0.158	0.0148596975298	0.0058	0.00159744	0.0040	0.0006	0.0011	0	0.0006	0.0064	0.0033	0.0021	0.0041203	637	154602	rs45461593	0.0054	0.0054	0.0055	0.0054	0.0158	0.0053	0.0053	0.0132	0.0122	0.0007	0.0023	0.0099	0	0.0005	0.0158	0.0062	0.0054	0.0032	0.0044	0.0044	0.0048	0.0039	0.0068	0.0041	0.0040	0.0063	0.0061	0.0016	0.0121	0.0041	0.0095	0.0002	0.0004	0.0102	0.0068	0.0057	0.0017	0.005	0.68238	D	0.143	0.39492	T	0.618	0.39878	P	0.101	0.30765	B	0.000886	0.41231	D	0.108197	0.928347	0.36892	D	.	.	.	1.35	0.34841	T	-5.13	0.83224	D	0.14	0.15469	-1.0658	0.10362	T	0.053	0.22539	T	10	0.003125757	0.00052	T	0.01486	0.35248	T	0.158	0.41098	.	.	0.252162846088	0.24830	0.5626145801708726	0.56188	0.0811084518359	0.09126	0.352576434612	0.18300	T	0.067042	0.37257	T	-0.490778	0.00643	T	-0.474995	0.24980	T	0.0738526429195159	0.09182	T	0.714229	0.32652	T	0.47816974	0.65789	0.45515832	0.68323	0.47816974	0.65790	0.45515832	0.68324	-4.273	0.27797	T	.	.	0.151	0.33342	B	.;.	.;.	1.918867	0.24368	16.37	0.99546258656753994	0.70836	0.55949	0.29993	D	AEFBCI	0.209860	0.33580	N	-0.229438254843676	0.31931	1.795477	-0.2679141333085	0.29162	1.63163	0.834347638524773	0.24750	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.2	4.32	0.50899	0.892000	0.27957	2.219000	0.31434	0.587000	0.30956	0.004000	0.16614	0.440000	0.24899	0.798000	0.37648	0.0:0.8659:0.1341:0.0	16.104	0.81014	810	0.42761	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2387.98	41	chr6	47010050	.	C	G	2387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.294;DP=896;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.096;SOR=0.668	GT:AD:DP:GQ:PL	0/1:102,94:196:99:2402,0,2603	20	0	1	0
chr6	63580034	63580034	-	T	exonic	PTP4A1	.	frameshift insertion	PTP4A1:NM_001385266:exon6:c.425dupT:p.S147Ffs*55,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1298.17	46	chr6	63580033	.	AT	A,ATT	1298.17	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=0.307;DP=1171;ExcessHet=14.4320;FS=0.603;InbreedingCoeff=-0.5084;MLEAC=11,1;MLEAF=0.275,0.025;MQ=60.00;MQRankSum=0.00;QD=1.92;ReadPosRankSum=-1.130e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:39,8,0:47:52:52,0,805,169,828,997	6	0	12	1
chr6	70234894	70234894	C	G	exonic	COL9A1	.	nonsynonymous SNV	COL9A1:NM_078485:exon28:c.G1430C:p.R477P	Stickler syndrome, type IV	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.999	D	0.987	D	0.000	D	1.000	D	-0.2	N	-1.76	D	-0.282	T	0.345	T	0.641	3.462	17.73	4.87	1.439	7.563	14.648	0.561	0.143473125126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.346	0.17696	T	0.999	0.77913	D	0.987	0.77487	D	0.000002	0.62929	D	0.060728	1	0.81001	D	-0.53	0.02533	N	-1.76	0.83578	D	-2.88	0.60507	D	0.659	0.67995	-0.2824	0.75475	T	0.345	0.71012	T	10	0.78262323	0.77981	D	0.143473	0.82579	D	0.561	0.82003	0.467	0.53891	0.912420511958	0.91153	0.6657395501328037	0.66510	0.491154891297	0.47813	0.670825362206	0.62956	T	0.504345	0.82347	D	0.157477	0.69966	D	-0.0115717	0.69583	D	0.981120765209198	0.73735	D	0.838016	0.51077	T	0.59302646	0.72315	0.6458173	0.79292	0.59302646	0.72316	0.6458173	0.79293	-3.567	0.17381	T	.	.	0.294	0.52500	B	.;.	.;.	4.196750	0.63292	24.6	0.99109464510274503	0.52674	0.99022	0.90087	D	AEFBI	0.975820	0.99640	D	0.205129814946803	0.51446	3.325891	0.288855276159954	0.54887	3.652603	0.996807278208412	0.35023	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.74	4.87	0.62877	7.822000	0.84804	4.001000	0.41074	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.9303:0.0:0.0697	14.648	0.68381	781	0.47532	.;.	.	.	.	.	.	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	74.98	39	chr6	70234894	.	C	G	74.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.431e+00;DP=784;ExcessHet=0.0000;FS=34.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.48;SOR=4.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,11:59:89:0|1:70234894_C_G:89,0,1899:70234894	20	0	1	0
chr6	73500589	73500589	C	A	exonic	MTO1	.	nonsynonymous SNV	MTO1:NM_012123:exon12:c.C1933A:p.R645S	Combined oxidative phosphorylation deficiency 10, Autosomal recessive	YES	2	1516	4	0	0	4	0.00131752	.	.	389130	Mitochondrial_hypertrophic_cardiomyopathy_with_lactic_acidosis_due_to_MTO1_deficiency|not_provided|Abnormal_brain_morphology	MONDO:MONDO:0013865,MedGen:C4749921,OMIM:614702,Orphanet:314637|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	3.295	M	.	.	0.267	D	0.544	D	0.913	4.648	25.5	5.48	2.563	4.354	17.108	0.694	0.024494916297	.	.	4.963e-05	0	0	0	0	1.503e-05	0.0011	0.0002	3.88e-05	6	154602	rs746382157	3.287e-05	3.489e-05	2.044e-05	4.543e-05	0.0004	2.546e-05	2.251e-05	0.0003	0.0003	0	0	0	0	0	0.0003	6.298e-06	4.972e-05	0.0004	6.573e-06	6.568e-06	0	1.346e-05	6.553e-05	0	0	.	.	0	0	6.553e-05	0	0	0	0	0	0	0	0.014	0.78490	D	0.01	0.83351	D	1.0	0.90584	D	0.987	0.80445	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	4.045	0.97016	H	.	.	.	-5.2	0.83695	D	0.756	0.87590	0.267	0.87016	D	0.544	0.83222	D	9	0.8349378	0.82651	D	0.024495	0.47488	T	0.694	0.88913	0.697	0.83406	0.881788646564	0.88063	0.8676891127275673	0.86733	0.939492545994	0.72166	0.608762145042	0.54140	T	0.627462	0.88409	D	0.254789	0.79048	D	0.420359	0.92755	D	0.974554538726807	0.70557	D	0.937606	0.99955	D	0.90945464	0.92244	0.83927643	0.90790	0.88609356	0.90176	0.85342854	0.91734	-11.166	0.80561	D	0.3926865676295587	0.48565	0.880	0.86921	P	.;.;.;.	.;.;.;.	5.264390	0.88397	29.6	0.99823969153537084	0.90677	0.94468	0.61262	D	AEFBI	0.644235	0.62056	D	0.859838627434628	0.89662	10.06419	0.79329861882849	0.89325	9.928327	0.783038553029033	0.23879	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.48	5.48	0.80675	4.742000	0.61798	7.493000	0.59393	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.108	0.86544	909	0.22467	.;.;.;GidA associated domain 3	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	952.98	33	chr6	73500589	.	C	A	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.504;DP=762;ExcessHet=0.0000;FS=3.125;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.213;SOR=1.067	GT:AD:DP:GQ:PL	0/1:42,39:81:99:967,0,1023	20	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.939	D	1.955	M	-2.54	D	0.480	D	0.698	D	0.589	3.817	19.38	2.91	0.879	1.891	11.092	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	8626.22	29	chr6	80007990	.	G	C,A	8626.22	.	AC=9,4;AF=0.321,0.143;AN=28;BaseQRankSum=-1.515e+00;DP=1035;ExcessHet=11.8493;FS=213.695;InbreedingCoeff=-0.6471;MLEAC=11,5;MLEAF=0.393,0.179;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.474;SOR=11.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,27,0:57:99:0|1:80007990_G_C:870,0,1164,960,1245,2205:80007990	1	0	9	7
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:30,0,28,0:58:99:0|1:80007990_G_C:886,976,2221,0,1245,1161,976,2221,1245,2221:80007990	8	0	5	0
chr6	80007993	80007997	TTTTG	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.324_328del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:30,0,28,0:58:99:0|1:80007990_G_C:886,976,2221,0,1245,1161,976,2221,1245,2221:80007990	8	0	5	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,27,4:56:99:1|0:80007990_G_C:957,0,1126,933,411,1292:80007990	2	0	13	4
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1782.58	51	chr6	80007996	.	T	TCCCCC,*	1782.58	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=0.023;DP=924;ExcessHet=3.6146;FS=435.630;InbreedingCoeff=-0.2557;MLEAC=6,5;MLEAF=0.273,0.227;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=0.313;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,27,0:55:99:0|1:80007990_G_C:850,0,1088,934,1169,2103:80007990	4	0	4	10
chr6	80007996	80007996	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1782.58	51	chr6	80007996	.	T	TCCCCC,*	1782.58	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=0.023;DP=924;ExcessHet=3.6146;FS=435.630;InbreedingCoeff=-0.2557;MLEAC=6,5;MLEAF=0.273,0.227;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=0.313;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,27,0:55:99:0|1:80007990_G_C:850,0,1088,934,1169,2103:80007990	4	0	4	10
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	1/2:0,12,19,0:31:99:1279,781,751,498,0,645,1297,800,613,1398	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	1/2:0,12,19,0:31:99:1279,781,751,498,0,645,1297,800,613,1398	3	8	1	0
chr6	83556226	83556226	G	T	exonic	SNAP91	.	nonsynonymous SNV	SNAP91:NM_001242794:exon19:c.C1730A:p.P577H	.	.	.	.	.	.	.	.	.	.	.	2778853	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	N	1.995	M	1.9	T	-1.002	T	0.117	T	0.524	4.155	21.5	5.54	2.611	7.155	19.089	0.218	0.024804702198	.	.	3.36e-05	0	0	0	0	7.057e-05	0	0	1.94e-05	3	154602	rs774229973	4.089e-05	4.925e-05	3.906e-05	4.277e-05	4.867e-05	3.208e-05	2.934e-05	3.796e-05	3.442e-05	0	2.616e-05	0	0	0	0	4.867e-05	6.812e-05	0	1.326e-05	1.316e-05	1.293e-05	1.36e-05	2.949e-05	2.2e-06	8.3e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.949e-05	0	0	0.0	0.91255	D	0.002	0.83351	D	0.999	0.90584	D	0.936	0.86255	D	0.000023	0.55875	D	0.119134	0.999933	0.51612	D	2.36	0.67893	M	1.78	0.26445	T	-2.21	0.49684	N	0.623	0.63798	-1.0024	0.29226	T	0.117	0.41165	T	10	0.4859947	0.60711	T	0.024805	0.47795	T	0.218	0.51265	.	.	0.340432005269	0.33650	0.2505951909950214	0.24973	0.607625513017	0.55570	0.744508087635	0.73636	T	0.028636	0.41409	T	-0.018208	0.49108	T	-0.263931	0.48430	T	0.449702351948695	0.30786	T	0.90041	0.75281	D	0.5151932	0.67982	0.55889183	0.74481	0.5151932	0.67983	0.55889183	0.74481	-10.155	0.74835	D	.	.	0.394	0.59251	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.415883	0.90635	31	0.9951425478880529	0.68799	0.96636	0.70140	D	AEFBI	0.926332	0.90727	D	0.812706337243854	0.86895	9.034294	0.804751948697162	0.90121	10.26571	0.900943010763535	0.26088	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	8.602000	0.90650	11.833000	0.97585	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.089	0.93200	748	0.52143	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1329.98	47	chr6	83556226	.	G	T	1329.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.345;DP=837;ExcessHet=0.0000;FS=1.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.335e+00;SOR=0.523	GT:AD:DP:GQ:PL	0/1:60,56:116:99:1344,0,1419	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	0/1:30,19:49:83:.:.:83,0,403	6	0	13	2
chr6	89862497	89862497	G	A	exonic	CASP8AP2	.	nonsynonymous SNV	CASP8AP2:NM_001137667:exon7:c.G788A:p.R263Q	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.348e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs200917530	2.139e-05	1.779e-05	2.121e-05	2.159e-05	0.0002	1.488e-05	1.265e-05	1.51e-05	1.289e-05	0	0	0	0	0	0.0002	2.307e-05	4.545e-05	1.202e-05	6.57e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23463932	0.40508	T	.	.	.	.	.	.	.	0.725308686764	0.72288	0.09281310918753018	0.09213	.	.	0.194469794631	0.00314	T	0.013021	0.11342	T	-0.200156	0.20783	T	-0.417629	0.31348	T	.	.	.	0.776122	0.40827	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.18289	B	.;.;.	.;.;.	2.826584	0.37253	20.4	0.62850827127624964	0.07069	0.74221	0.36306	D	ALL	.	.	.	.	.	.	.	.	.	0.999995270435996	0.74766	0.423476	0.06517	0	0.410168	0.06389	1	0.343423	0.05949	0	0.322829	0.05601	0	0.141427	0.26771	5.75	4.87	0.62877	4.057000	0.57168	5.850000	0.50329	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.3123:0.0:0.6877:0.0	6.519	0.21461	561	0.71236	.;.;.	.	.	.	.	.	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	1807.98	43	chr6	89862497	.	G	A	1807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=861;ExcessHet=0.0000;FS=0.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-4.910e-01;SOR=0.753	GT:AD:DP:GQ:PL	0/1:81,71:152:99:1822,0,2046	20	0	1	0
chr6	109979173	109979175	GCG	-	exonic	GPR6	.	nonframeshift deletion	GPR6:NM_005284:exon2:c.61_63del:p.A25del	.	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.805e-05	0	0	0	0	3.51e-05	0	0.0001	2.59e-05	4	154602	rs760613921	3.186e-05	8.824e-05	3.724e-05	2.644e-05	0.0007	2.443e-05	2.185e-05	0.0002	0.0001	3.061e-05	0.0002	0	7.577e-05	0	0.0007	1.984e-05	0.0001	2.345e-05	2.632e-05	2.628e-05	2.573e-05	2.694e-05	6.55e-05	8.15e-06	5.15e-06	4.88e-06	1.83e-06	0	0	6.55e-05	0	0	0	0	2.943e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1410.94	33	chr6	109979172	.	AGCG	A	1410.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=784;ExcessHet=0.0000;FS=6.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.71;ReadPosRankSum=-3.760e-01;SOR=0.430	GT:AD:DP:GQ:PL	0/1:29,36:65:99:1425,0,1087	20	0	1	0
chr6	121447061	121447061	A	G	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.A214G:p.I72V,	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.908	P	0.669	P	0.001	N	1.000	D	1.625	L	-5.54	D	1.093	D	0.938	D	0.697	3.371	17.36	5.5	2.089	9.287	15.605	0.787	0.250974127698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.908	0.50127	P	0.669	0.53077	P	0.001142	0.40056	N	0.240936	0.999999	0.58761	D	1.865	0.49290	L	-5.54	0.99184	D	-0.92	0.24676	N	0.498	0.53093	1.093	0.99378	D	0.938	0.97961	D	10	0.8795201	0.87257	D	0.250974	0.89113	D	0.787	0.92948	0.7	0.83684	0.943663086211	0.94307	0.8918822313251208	0.89158	0.856064958791	0.68761	0.738846123219	0.72803	T	0.763452	0.93610	D	0.34166	0.85945	D	0.252994	0.85761	D	0.803063251343763	0.46562	D	0.90391	0.66280	D	0.38390532	0.59598	0.3327721	0.59121	0.38390532	0.59598	0.3327721	0.59121	-6.188	0.47826	T	0.3332976928640002	0.43127	0.176	0.38426	B	.;.;.;.;.	.;.;.;.;.	3.909359	0.56999	23.8	0.99754698206370063	0.84537	0.97121	0.72812	D	AEFBCI	0.942640	0.94747	D	0.628616182966142	0.74992	6.227793	0.663610123529025	0.79629	7.123	0.999999999992006	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	9.325000	0.96006	9.424000	0.80768	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	15.605	0.76411	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	265.87	35	chr6	121447061	.	A	G	265.87	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-3.521e+00;DP=1371;ExcessHet=0.3300;FS=52.366;InbreedingCoeff=-0.0947;MLEAC=2;MLEAF=0.050;MQ=56.91;MQRankSum=-1.531e+00;QD=0.76;ReadPosRankSum=1.02;SOR=8.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,19:112:76:.:.:76,0,2270	17	0	3	1
chr6	127475667	127475667	G	C	exonic	SOGA3	.	nonsynonymous SNV	SOGA3:NM_001012279:exon6:c.C2359G:p.R787G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.94	P	0.627	P	0.000	D	1.000	D	1.61	L	1.57	T	-1.109	T	0.072	T	0.945	3.302	17.09	5.27	2.476	5.077	15.325	0.258	0.0294779720707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.038	0.51421	D	0.94	0.52768	P	0.627	0.51631	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.87	0.49600	L	1.57	0.29342	T	-2.28	0.50830	N	0.848	0.84401	-1.1091	0.03148	T	0.072	0.29259	T	10	0.5849918	0.66060	D	0.029478	0.51979	D	0.258	0.56959	0.198	0.11110	0.220303561663	0.21668	0.9553684904354519	0.95521	.	.	0.809187352657	0.83368	D	0.093602	0.39246	T	0.200191	0.73909	D	0.0497839	0.73568	D	0.952574253082275	0.63824	D	0.922208	0.71716	D	0.73451984	0.79979	0.37964514	0.63015	0.73451984	0.79981	0.37964514	0.63015	-5.021	0.37067	T	.	.	0.869	0.80838	P	.;.	.;.	5.030521	0.83670	28.1	0.99782776199374856	0.86955	0.97867	0.77726	D	AEFDBI	0.856836	0.77413	D	0.524019855487875	0.68514	5.227696	0.55777498529191	0.71938	5.731989	0.999894269987856	0.45129	0.632932	0.41330	0	0.573888	0.26702	0	0.601832	0.32385	0	0.530356	0.10902	0	.	.	5.27	5.27	0.73797	5.169000	0.64823	6.588000	0.56017	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8599:0.1401	15.325	0.73864	618	0.66225	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1297.98	34	chr6	127475667	.	G	C	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=954;ExcessHet=0.0000;FS=7.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=-1.392e+00;SOR=1.106	GT:AD:DP:GQ:PL	0/1:69,50:119:99:1312,0,1701	20	0	1	0
chr6	134918678	134918678	G	T	exonic	ALDH8A1	.	nonsynonymous SNV	ALDH8A1:NM_001193480:exon6:c.C1051A:p.P351T	.	.	439	1067	16	0	0	16	0.00744186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.604	P	0.547	P	0.000	D	1.000	D	0.705	N	1.6	T	-0.514	T	0.224	T	0.521	2.898	15.66	2.85	1.482	1.775	13.479	0.298	0.0714911742485	0.0041	0.00139776	0.0051	0.0002	0.0010	0	0.0020	0.0084	0.0011	0.0019	0.0049935	772	154602	rs61731731	0.0055	0.0055	0.0055	0.0054	0.0066	0.0054	0.0054	0.0065	0.0064	0.0007	0.0012	0.0007	0	0.0035	0.0026	0.0066	0.0043	0.0018	0.0036	0.0036	0.0038	0.0033	0.0065	0.0033	0.0032	0.0060	0.0058	0.0008	0	0.0010	0	0	0.0030	0	0.0065	0.0043	0.0015	0.032	0.72154	D	0.033	0.53072	D	0.604	0.39417	P	0.363	0.43280	B	0.000141	0.49741	D	0.242834	0.999986	0.54805	D	1.11	0.28643	L	-1.0	0.76037	T	-6.21	0.90411	D	0.252	0.36464	-0.5144	0.68124	T	0.224	0.58869	T	10	0.013618439	0.00288	T	0.071491	0.71283	D	0.298	0.61843	.	.	0.780379905589	0.77835	0.7644261845423829	0.76390	0.323159786011	0.34483	0.373488128185	0.21330	T	0.44226	0.78649	T	-0.288356	0.09801	T	-0.181993	0.56339	T	0.0731636617424543	0.09088	T	0.946005	0.95043	D	0.59032226	0.72169	0.6018954	0.76868	0.59032226	0.72170	0.6018954	0.76869	-4.149	0.26009	T	.	.	0.153	0.39664	B	.;.;.;.	.;.;.;.	2.783712	0.36570	20.3	0.99734951687566986	0.83047	0.85687	0.44847	D	ALL	0.518365	0.54409	D	0.0299642111254581	0.43221	2.619337	0.102168638742454	0.44660	2.743402	0.986586276959072	0.31089	0.533608	0.22052	0	0.61073	0.52368	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.83	2.85	0.32333	1.861000	0.39078	6.184000	0.54674	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.501000	0.29039	0.0715:0.1674:0.7611:0.0	13.479	0.60777	870	0.31527	Aldehyde dehydrogenase domain;.;.;Aldehyde dehydrogenase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3002.98	34	chr6	134918678	.	G	T	3002.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=1018;ExcessHet=0.0000;FS=9.948;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.969;SOR=0.952	GT:AD:DP:GQ:PL	0/1:141,113:254:99:3017,0,3699	20	0	1	0
chr6	157206412	157206412	C	A	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001363725:exon18:c.C3141A:p.S1047R	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.001	B	0.002	B	0.002	N	1.000	N	1.04	L	4.79	T	-0.911	T	0.001	T	0.117	-1.233	0.057	-10.1	-2.545	-2.911	1.323	0.011	0.00656902526907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0002	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.09319	T	0.289	0.21078	T	0.0	0.07471	B	0.001	0.06944	B	0.002081	0.00857	N	3.836750	0.999965	0.18878	N	0.69	0.16971	N	4.79	0.02084	T	-1.05	0.28703	N	0.11	0.09631	-0.9108	0.46756	T	0.001	0.00467	T	10	0.037344426	0.02084	T	0.006569	0.17329	T	0.011	0.01250	0.185	0.09388	0.261638197198	0.25763	0.09338977125568121	0.09270	0.699661806568	0.61046	0.236031740904	0.02444	T	0.023543	0.17955	T	-0.351482	0.04634	T	-0.742656	0.03779	T	0.0620892532169819	0.07495	T	0.326667	0.07800	T	0.054411903	0.10434	0.03732615	0.03361	0.054411903	0.10434	0.03732615	0.03361	-4.048	0.24534	T	0.20972503848423527	0.28082	0.221	0.45211	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-1.659122	0.00212	0.003	0.30922174104273681	0.01716	0.03586	0.08806	N	AEFBI	0.068459	0.13505	N	-1.9278743827323	0.00301	0.0129083	-2.05606341435033	0.00232	0.01022868	0.99999986730321	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.06	-10.1	0.00330	-1.706000	0.01995	-13.081000	0.00481	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2593:0.1121:0.3171:0.3114	1.323	0.01993	939	0.14249	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1205.98	34	chr6	157206412	.	C	A	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=809;ExcessHet=0.0000;FS=0.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=1.54;SOR=0.814	GT:AD:DP:GQ:PL	0/1:71,46:117:99:1220,0,1888	20	0	1	0
chr6	167341336	167341336	G	A	exonic	TTLL2	.	nonsynonymous SNV	TTLL2:NM_031949:exon3:c.G1436A:p.R479H,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	0.601	N	1.000	N	0	N	4.33	T	-0.952	T	0.002	T	0.055	-0.389	2.176	1.02	0.085	0.476	7.431	0.017	0.000709278487277	7.7e-05	.	2.479e-05	0	8.664e-05	0	0	3.006e-05	0	0	2.59e-05	4	154602	rs138482235	8.277e-05	8.277e-05	8.576e-05	7.975e-05	0.0003	7.069e-05	6.618e-05	0.0002	0.0002	5.974e-05	0.0003	7.652e-05	5.038e-05	1.872e-05	0	7.194e-05	0.0003	4.637e-05	0.0003	0.0003	0.0003	0.0002	0.0016	0.0002	0.0002	0.0011	0.0010	0.0001	0	0.0016	0	0	0	0	7.356e-05	0.0014	0	0.577	0.06049	T	0.557	0.09205	T	0.0	0.02946	B	0.0	0.01387	B	0.601189	0.10957	N	0.803881	1	0.08975	N	0	0.06538	N	4.33	0.02363	T	-0.2	0.10136	N	0.043	0.01577	-0.9524	0.40555	T	0.002	0.00497	T	10	0.020542055	0.00475	T	7.09E-4	0.00454	T	0.017	0.02790	.	.	0.0138822411134	0.00435	0.2168972768688237	0.21605	0.147340464007	0.16621	0.206704854965	0.00679	T	0.001804	0.01223	T	-0.557214	0.00264	T	-0.801507	0.01865	T	0.00457232538610697	0.00049	T	0.417258	0.10990	T	0.0255889	0.01514	0.029868804	0.01372	0.0255889	0.01514	0.029868804	0.01372	-3.874	0.21913	T	.	.	0.066	0.02285	B	.;.	.;.	0.442227	0.08122	4.854	0.45268593979235477	0.03541	0.00697	0.02968	N	AEFGBHCI	0.039147	0.05645	N	-1.57784462824029	0.01379	0.06009875	-1.55110636466353	0.01968	0.08988614	0.980524388563841	0.30146	0.57788	0.32782	0	0.563428	0.19063	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	3.85	1.02	0.19102	0.543000	0.22945	-1.188000	0.06077	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4544:0.0:0.5456:0.0	7.431	0.26303	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2283.98	39	chr6	167341336	.	G	A	2283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=978;ExcessHet=0.0000;FS=5.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=0.089;SOR=0.889	GT:AD:DP:GQ:PL	0/1:88,84:172:99:2298,0,2411	20	0	1	0
chr6	167976259	167976342	CAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.311_394del:p.V104_T131del,	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0028	0.0077	0	0	0.0053	0	0.0037	.	.	.	.	0.0001	0.0003	0.0001	0.0001	0.0030	9.78e-05	9.099e-05	0.0017	0.0013	0.0002	0	0	0.0003	0.0002	0.0030	0.0001	0.0001	8.545e-05	0.0002	0.0008	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0001	2.975e-05	0	0.0003	0.0010	0.0003	0.0003	0.0050	0.0003	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,50:50:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1997,1997,1997,151,151,0:167976249	14	0	1	0
chr6	167976258	167976342	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	0	exonic	HGC6.3	.	.	.	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,50:50:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1997,1997,1997,151,151,0:167976249	14	0	1	0
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3195.59	88	chr6	167976273	.	A	*,C	3195.59	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=0.163;DP=1063;ExcessHet=1.8260;FS=13.368;InbreedingCoeff=0.0227;MLEAC=10,5;MLEAF=0.250,0.125;MQ=55.81;MQRankSum=-3.188e+00;QD=4.92;ReadPosRankSum=0.937;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,50,0:50:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1997,151,0,1997,151,1997:167976249	7	3	4	1
chr6	167976287	167976287	T	0	exonic	HGC6.3	.	.	.	.	.	7	149	13	0	57	70	0.0418006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	711.4	88	chr6	167976287	.	T	G,*	711.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=0.231;DP=1079;ExcessHet=0.2410;FS=14.973;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=55.12;MQRankSum=2.13;QD=1.96;ReadPosRankSum=-5.620e-01;SOR=1.152	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,50:50:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1997,1997,1997,151,151,0:167976249	12	0	2	1
chr6	167976288	167976288	T	0	exonic	HGC6.3	.	.	.	.	.	556	780	60	5	121	191	0.0429448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	677.4	88	chr6	167976288	.	T	G,*	677.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=1.98;DP=1079;ExcessHet=0.2410;FS=14.840;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=54.99;MQRankSum=2.13;QD=1.88;ReadPosRankSum=-6.700e-01;SOR=1.164	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,50:50:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1997,1997,1997,151,151,0:167976249	12	0	2	1
chr6	167976329	167976329	T	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	8324.06	88	chr6	167976329	.	T	G,*	8324.06	.	AC=9,1;AF=0.281,0.031;AN=32;BaseQRankSum=2.86;DP=1186;ExcessHet=0.0120;FS=13.202;InbreedingCoeff=0.2945;MLEAC=11,1;MLEAF=0.344,0.031;MQ=51.60;MQRankSum=0.844;QD=22.68;ReadPosRankSum=0.073;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,63,0:65:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:2503,176,0,2507,189,2520:167976249	9	3	3	5
chr6	168040072	168040072	G	C	exonic	KIF25	.	nonsynonymous SNV	KIF25:NM_005355:exon6:c.G502C:p.G168R	.	.	425	1095	1	0	1	2	0.000456413	.	.	2446196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.6	T	0.08	B	0.03	B	0.019	N	1.000	N	-1.26	N	-0.84	T	-1.084	T	0.033	T	0.171	-0.040	3.808	-3.35	-0.720	-0.662	1.64	0.090	0.00730511354048	.	.	.	.	.	.	.	.	.	.	.	.	.	rs533395739	3.424e-06	3.42e-06	2.725e-06	4.131e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.7e-06	1.657e-05	0	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	0.495	0.07870	T	0.523	0.10354	T	0.08	0.24543	B	0.005	0.21741	B	0.018881	0.01498	N	2.405690	1	0.08975	N	-0.345	0.03330	N	-0.84	0.74265	T	0.77	0.02068	N	0.143	0.15328	-1.0844	0.06517	T	0.033	0.14029	T	10	0.08561221	0.14470	T	0.007305	0.19361	T	0.090	0.26093	0.307	0.27806	0.298403945805	0.29456	0.21205342566463076	0.21121	0.126926261757	0.14302	0.248839259148	0.03646	T	0.039395	0.25175	T	-0.168115	0.25519	T	-0.479262	0.24524	T	0.205677703022957	0.20726	T	0.327667	0.06803	T	0.10593595	0.25049	0.057272214	0.10380	0.10593595	0.25049	0.057272214	0.10380	-3.154	0.11927	T	.	.	0.105	0.33981	B	.;.;.;.	.;.;.;.	-0.488442	0.01904	0.158	0.54173170237429769	0.05085	0.01109	0.04059	N	AEFDBHCI	0.041296	0.06258	N	-1.49071392662515	0.01915	0.08404655	-1.49362128094679	0.02396	0.1101316	0.350474922411159	0.19677	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.09	-3.35	0.04620	-0.410000	0.07214	-5.265000	0.01784	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4514:0.1562:0.2646:0.1278	1.64	0.02585	.	.	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	717.98	37	chr6	168040072	.	G	C	717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=776;ExcessHet=0.0000;FS=2.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=1.44;SOR=1.005	GT:AD:DP:GQ:PL	0/1:35,28:63:99:732,0,852	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|1:0,57,0:57:99:1|1:170561949_GCAA_G:2270,177,0,2271,178,2272:170561949	1	15	4	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,50,28:78:99:1|0:170561949_GCAA_G:4169,1040,755,1977,0,1752:170561949	1	1	3	2
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1014.59	36	chr6	170561967	.	G	*,A	1014.59	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.850;DP=1725;ExcessHet=0.5418;FS=3.273;InbreedingCoeff=0.0735;MLEAC=7,1;MLEAF=0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=2.63;SOR=0.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,26,0:84:99:.:.:1523,0,1801,1695,1982,3838	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	0/1:11,10:21:40:.:.:40,0,164	5	0	14	2
chr7	997651	997651	G	A	exonic	C7orf50	.	stopgain	C7orf50:NM_001134395:exon5:c.C559T:p.R187X	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.048	N	0.905	D	.	.	.	.	.	.	.	.	.	1.736	11.77	5.35	2.507	2.486	16.549	0.040	.	7.7e-05	.	1.038e-05	0	0	0	0	1.899e-05	0	0	6.5e-06	1	154602	rs372720975	8.584e-05	8.551e-05	9.292e-05	7.869e-05	0.0001	7.341e-05	6.842e-05	8.602e-05	8.079e-05	0	0	0	2.537e-05	0	0	0.0001	0.0001	2.329e-05	8.538e-05	8.536e-05	6.421e-05	0.0001	0.0002	4.955e-05	3.961e-05	0.0001	8.875e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.048423	0.23252	N	0.367616	0.905416	0.36275	D	.	.	.	.	.	.	.	.	.	0.182	0.20129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199398	0.73835	D	0.415088	0.92590	D	0.993962585926056	0.84996	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive;.;.	High;High;High;.;.	9.233046	0.98651	40	0.99573553567881035	0.72561	0.78250	0.38578	D	AEFDGBHCI	0.093199	0.18861	N	0.62684767401012	0.74877	6.208183	0.440905315651336	0.64134	4.66182	0.999999132368644	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	2.669000	0.46490	7.289000	0.58048	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.386000	0.26469	0.0:0.0:1.0:0.0	16.549	0.84306	934	0.15400	.;.;.;.;.	.	.	.	.	.	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	682.98	33	chr7	997651	.	G	A	682.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=748;ExcessHet=0.0000;FS=2.430;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-9.320e-01;SOR=1.110	GT:AD:DP:GQ:PL	0/1:23,26:49:99:697,0,527	20	0	1	0
chr7	2543630	2543630	C	T	exonic	BRAT1	.	nonsynonymous SNV	BRAT1:NM_001350627:exon4:c.G238A:p.A80T	Rigidity and multifocal seizure syndrome, lethal neonatal, Autosomal recessive	.	0	1520	1	1	0	3	0.000985869	.	.	561538	not_provided|Neonatal-onset_encephalopathy_with_rigidity_and_seizures	MedGen:CN517202|MONDO:MONDO:0013784,MedGen:C3281029,OMIM:614498,Orphanet:435845	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.975	D	0.234	B	0.001	N	0.998	N	2.19	M	-2.73	D	-0.160	T	0.618	D	0.321	1.124	9.582	3.92	0.760	0.512	12.191	0.331	0.178525869879	0.0002	.	7.585e-05	0	0	0.0001	0	0.0001	0	0	9.06e-05	14	154602	rs149503475	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0002	3.174e-05	2.735e-05	0	5.224e-05	0	0	0.0002	0.0001	1.332e-05	0.0001	0.0001	0.0002	9.415e-05	0.0002	8.169e-05	6.725e-05	0.0001	0.0001	4.825e-05	0	6.541e-05	0	0.0002	0	0	0.0002	0	0	0.159	0.23813	T	0.421	0.14075	T	0.975	0.58077	D	0.234	0.38393	B	0.001362	0.39242	N	0.291462	0.998198	0.22299	N	2.1	0.58353	M	-2.73	0.90679	D	-1.19	0.30346	N	0.31	0.34981	-0.1601	0.78668	T	0.618	0.86526	D	10	0.17944443	0.33079	T	0.178526	0.85362	D	0.331	0.65325	.	.	0.801641172427	0.79978	0.13821516321443816	0.13745	0.0566205886456	0.06256	0.448053598404	0.31678	T	0.00557	0.05022	T	-0.154565	0.27601	T	-0.204752	0.54195	T	0.050225732685094	0.05539	T	0.727427	0.34191	T	0.039516944	0.05469	0.07503676	0.16476	0.039516944	0.05469	0.07503676	0.16476	-3.924	0.22662	T	0.3969909773553774	0.48938	0.122	0.25592	B	.	.	1.255168	0.16525	12.59	0.98396296422234775	0.41020	0.16500	0.19418	N	AEFDGBCI	0.056276	0.10389	N	-0.296243763135989	0.29293	1.623187	-0.422651378114572	0.24334	1.331952	0.997271251342092	0.35446	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.71	3.92	0.44525	0.439000	0.21293	2.549000	0.33255	0.599000	0.40250	0.006000	0.17386	0.990000	0.31317	0.019000	0.11356	0.0:0.8982:0.0:0.1018	12.191	0.53582	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	1	0	0	0	0	0	0	0.02381	1304.98	35	chr7	2543630	.	C	T	1304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=944;ExcessHet=0.0000;FS=0.733;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-1.020e-01;SOR=0.802	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1319,0,1012	20	0	1	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,37,0:39:99:.:.:1108,103,0,1111,109,1117	0	6	14	0
chr7	7673314	7673319	AGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	16242.43	19	chr7	7673310	.	TAGCAGCAGC	T,TAGCAGCAGCAGC,TAGC,TAGCAGC,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	16242.43	.	AC=16,7,3,1,1,1;AF=0.381,0.167,0.071,0.024,0.024,0.024;AN=42;BaseQRankSum=0.257;DP=845;ExcessHet=4.5793;FS=1.329;InbreedingCoeff=-0.2255;MLEAC=16,7,3,1,1,1;MLEAF=0.381,0.167,0.071,0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=28.25;ReadPosRankSum=-2.670e-01;SOR=0.560	GT:AD:DP:GQ:PL	1/3:0,12,0,12,0,0,0:24:99:963,418,447,929,458,938,450,0,446,389,929,458,938,446,938,929,458,938,446,938,938,929,458,938,446,938,938,938	1	3	5	0
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C	.	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.761	P	0.338	B	.	.	0.965	N	1.04	L	-1.67	D	-0.401	T	0.416	T	0.096	2.838	15.45	4.98	2.586	2.223	13.417	0.317	.	0.0002	0.00299521	0.0071	0.0004	0.0024	0	0.0012	0.0005	0	0.0191	0.0012484	193	154602	rs201430222	0.0014	0.0013	0.0008	0.0019	0.0163	0.0013	0.0013	0.0155	0.0152	6.33e-05	0.0004	0.0004	2.798e-05	0.0002	0.0102	0.0004	0.0017	0.0163	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0120	0.0110	4.812e-05	0	0.0007	0.0006	0	0.0003	0.0136	0.0007	0.0019	0.0147	0.019	0.50132	D	0.015	0.61642	D	0.761	0.43566	P	0.338	0.42306	B	.	.	.	.	0.965048	0.25955	N	1.495	0.37439	L	-1.67	0.82806	D	-2.2	0.49519	N	0.162	0.17002	-0.4008	0.72001	T	0.416	0.76279	T	9	0.008293569	0.00188	T	.	.	.	0.317	0.63904	.	.	0.343334270461	0.33943	0.20029899394606046	0.19946	.	.	0.376162022352	0.21712	T	0.039527	0.25219	T	-0.420008	0.01710	T	-0.361152	0.37918	T	0.024809887274748	0.01248	T	0.578142	0.20837	T	0.16607872	0.36921	0.15976596	0.37245	0.16607872	0.36920	0.15976596	0.37244	-11.404	0.81827	D	.	.	0.167	0.36712	B	.	.	3.624016	0.51305	23.1	0.98969845649481181	0.49501	0.95695	0.65763	D	AEFBI	0.631091	0.61219	D	0.196351805118652	0.51024	3.287046	0.249341905279831	0.52612	3.434912	0.999978700190465	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	2.332000	0.43561	5.528000	0.48839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:0.843:0.157	13.417	0.60423	837	0.37933	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5345.68	48	chr7	12380643	.	G	C	5345.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.480e-01;DP=1122;ExcessHet=0.3300;FS=3.317;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-2.040e-01;SOR=0.538	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1444,0,1636	18	0	3	0
chr7	21784440	21784440	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon58:c.A9497G:p.Q3166R,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	1155658	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.998	D	0.000	D	1.000	D	.	.	-0.8	T	0.087	D	0.574	D	0.488	3.114	16.41	6.17	2.371	4.579	15.805	0.297	0.0506212878366	.	0.000998403	0.0007	0	0	0	0	0	0.0013	0.0052	0.0005045	78	154602	rs562875579	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0.0002	2.699e-06	0.0004	0.0039	0.0002	0.0002	6.423e-05	0.0003	0.0048	0.0001	9.232e-05	0.0033	0.0028	0	0	6.539e-05	0	0	0	0	0	0	0.0048	0.214	0.19361	T	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.8	0.73845	T	-1.57	0.37955	N	0.31	0.37717	0.087	0.83932	D	0.574	0.84599	D	9	0.009508342	0.00214	T	0.050621	0.64320	D	0.297	0.61730	0.324	0.30549	0.727606065629	0.72519	0.5618559201112545	0.56112	.	.	0.461622297764	0.33533	T	0.249105	0.61900	T	-0.284787	0.10166	T	-0.181861	0.56351	T	0.152861912553343	0.17329	T	0.521748	0.17009	T	0.50749254	0.67533	0.53591233	0.73182	0.5536794	0.70161	0.56630623	0.74897	-3.432	0.15490	T	0.6100918150494773	0.67763	0.118	0.24260	B	.;.;.	.;.;.	3.038194	0.40726	21.2	0.99622092080066726	0.75473	0.98169	0.80199	D	AEFGBI	0.691215	0.65128	D	0.654088880841443	0.76635	6.522801	0.678525992507211	0.80752	7.369173	0.999951335561755	0.48110	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	6.17	6.17	0.99707	3.806000	0.55288	8.050000	0.76353	-0.040000	0.17491	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	15.805	0.78265	775	0.48401	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	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	1088.98	34	chr7	21784440	.	A	G	1088.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=801;ExcessHet=0.0000;FS=4.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-2.730e-01;SOR=1.116	GT:AD:DP:GQ:PL	0/1:63,52:115:99:1103,0,1391	20	0	1	0
chr7	23274204	23274204	G	T	exonic	GPNMB	.	stopgain	GPNMB:NM_001005340:exon11:c.G1699T:p.E567X	.	.	429	1089	4	0	0	4	0.00183318	.	.	700006	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.817	19.38	0.235	0.308	0.364	4.262	.	.	0.0036	0.00419329	0.0091	0.0007	0.0006	0	0.0664	0.0088	0.0154	0.0027	0.0080206	1240	154602	rs11537976	0.0065	0.0065	0.0065	0.0064	0.0043	0.0064	0.0063	0.0042	0.0041	0.0006	0.0016	0.0085	0	0.0697	0.0012	0.0043	0.0066	0.0029	0.0080	0.0081	0.0055	0.0107	0.0051	0.0077	0.0075	0.0046	0.0044	0.0008	0	0.0022	0.0092	0	0.0719	0.0034	0.0051	0.0052	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998413	0.44886	D	.	.	.	.	.	.	.	.	.	0.519	0.55019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196812	0.73595	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.	.;High;.	6.715099	0.95633	35	0.97589917894241351	0.34786	0.12594	0.17363	N	AEFBI	0.131986	0.25112	N	0.133487670278204	0.48030	3.020667	-0.288374974748457	0.28480	1.588315	0.999582376456521	0.40607	0.615465	0.37627	0	0.587265	0.34161	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	0.235	0.235	0.14697	0.365000	0.20076	-1.161000	0.06152	0.373000	0.20310	0.006000	0.17386	0.000000	0.08366	0.453000	0.27962	0.3027:0.0:0.6973:0.0	4.262	0.10196	512	0.75040	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	564.98	33	chr7	23274204	.	G	T	564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.286;DP=688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=0.160;SOR=0.850	GT:AD:DP:GQ:PL	0/1:28,25:53:99:579,0,631	20	0	1	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41,	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2015.4	153	chr7	27094574	.	GACCC	G	2015.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.128e+00;DP=1455;ExcessHet=1.1607;FS=134.511;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=2.43;ReadPosRankSum=1.51;SOR=10.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,37:164:99:0|1:27094574_GACCC_G:571,0,4742:27094574	16	0	5	0
chr7	27094578	27094578	-	GGGG	exonic	HOXA1	.	frameshift insertion	HOXA1:NM_005522:exon2:c.869_870insCCCC:p.E290Dfs*128,	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1814.7	153	chr7	27094578	.	C	CGGGG	1814.7	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.330e+00;DP=1572;ExcessHet=1.1607;FS=125.938;InbreedingCoeff=-0.1507;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=1.71;SOR=9.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,36:163:99:0|1:27094574_GACCC_G:564,0,4744:27094574	15	0	5	1
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	1/1:0,142,0:142:99:.:.:4686,426,0,4429,425,4816	0	18	1	0
chr7	36410543	36410543	C	T	exonic	ANLN	.	nonsynonymous SNV	ANLN:NM_001284301:exon6:c.C1126T:p.R376C	Focal segmental glomerulosclerosis 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1374769	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.255	M	2.21	T	-0.939	T	0.133	T	0.499	4.239	22.1	3.85	0.759	4.584	12.301	0.172	0.0992694394746	.	0.000199681	7.491e-05	0	0	0	0	1.513e-05	0	0.0005	6.47e-05	10	154602	rs559978701	3.977e-05	3.967e-05	2.32e-05	5.651e-05	0.0005	3.12e-05	2.853e-05	0.0004	0.0003	3e-05	2.28e-05	0	2.523e-05	0	0	9.905e-06	3.32e-05	0.0005	3.285e-05	3.281e-05	0	6.715e-05	0.0006	1.261e-05	7.98e-06	0.0002	9e-05	0	0	6.547e-05	0	0	0	0	1.47e-05	0	0.0006	0.001	0.91255	D	0.014	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.095114	1	0.81001	D	2.545	0.74286	M	2.21	0.19990	T	-4.0	0.75139	D	0.516	0.54671	-0.9388	0.42806	T	0.133	0.44642	T	10	0.14448911	0.27420	T	0.099269	0.77079	D	0.172	0.43662	0.266	0.21261	0.637469505071	0.63448	0.5334594273513621	0.53270	0.687227062568	0.60371	0.556408643723	0.46760	T	0.376331	0.73975	T	-0.292236	0.09413	T	-0.305835	0.44104	T	0.816710293292999	0.47529	D	0.979602	0.93000	D	0.4647072	0.64964	0.35285512	0.60856	0.48249957	0.66052	0.34610927	0.60283	-13.121	0.90792	D	0.3195570575660832	0.41767	0.431	0.65920	A	.;.	.;.	5.108625	0.85399	28.6	0.99911053915977965	0.98022	0.97002	0.72125	D	AEFBI	0.537524	0.55529	D	0.429595695221995	0.63057	4.532237	0.384719815681844	0.60621	4.25188	0.999982547349855	0.51787	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.63	3.85	0.43556	4.658000	0.61192	5.861000	0.50433	-0.230000	0.07744	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.8629:0.0:0.1371	12.301	0.54197	657	0.62240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1245.98	33	chr7	36410543	.	C	T	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.730e-01;DP=788;ExcessHet=0.0000;FS=1.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-1.830e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1260,0,1312	20	0	1	0
chr7	43800512	43800512	G	A	exonic	BLVRA	.	nonsynonymous SNV	BLVRA:NM_000712:exon6:c.G400A:p.A134T	Hyperbiliverdinemia, Autosomal recessive, Autosomal dominant	.	0	1499	22	1	0	24	0.00794176	.	.	2117910	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.007	B	0.002	B	0.000	D	0.989	N	0.69	N	1.96	T	-1.047	T	0.030	T	0.15	2.239	13.44	3.53	1.406	3.449	6.838	0.052	0.00158489144956	0.0009	0.00119808	0.0014	0.0004	0	0.0005	0	0.0008	0	0.0065	0.0012225	189	154602	rs149777705	0.0009	0.0009	0.0007	0.0011	0.0070	0.0008	0.0008	0.0065	0.0063	0.0001	0.0002	7.653e-05	2.519e-05	0	0.0043	0.0005	0.0008	0.0070	0.0008	0.0008	0.0007	0.0008	0.0068	0.0006	0.0006	0.0050	0.0044	0.0004	0	0.0003	0	0	0	0.0102	0.0008	0.0009	0.0068	0.201	0.20306	T	0.106	0.37872	T	0.007	0.14184	B	0.002	0.06944	B	0.000017	0.62929	D	0.148180	0.988626	0.24389	N	0.895	0.22405	L	1.96	0.22270	T	-0.34	0.12661	N	0.174	0.18649	-1.0470	0.15246	T	0.030	0.12848	T	10	0.008343786	0.00189	T	0.001585	0.02523	T	0.052	0.14661	.	.	0.336892272479	0.33291	0.21129465543673692	0.21045	0.198753139644	0.22255	0.58534014225	0.50838	T	0.025684	0.19158	T	-0.532842	0.00370	T	-0.535278	0.18762	T	0.0120343098674384	0.00190	T	0.774123	0.40598	T	0.091147415	0.21350	0.07763785	0.17315	0.103402965	0.24441	0.101527795	0.24308	-4.616	0.32372	T	.	.	0.084	0.10208	B	.;.	.;.	3.536429	0.49643	22.8	0.99356288992233344	0.60820	0.60002	0.31072	D	AEFBI	0.145683	0.26894	N	-0.19555428789303	0.33318	1.888954	-0.0146671438037346	0.39051	2.309696	0.0205481302936694	0.13268	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.36	3.53	0.39533	3.428000	0.52560	5.140000	0.47705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.267:0.0:0.733:0.0	6.838	0.23130	774	0.48577	Biliverdin reductase, catalytic;Biliverdin reductase, catalytic	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	2095.11	34	chr7	43800512	.	G	A	2095.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.400e-02;DP=847;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-7.000e-03;SOR=0.693	GT:AD:DP:GQ:PL	0/1:36,45:81:99:1067,0,797	19	0	2	0
chr7	44967694	44967694	C	T	exonic	MYO1G	.	nonsynonymous SNV	MYO1G:NM_033054:exon14:c.G1693A:p.D565N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.591	P	0.391	B	0.001	D	0.560	N	0.905	L	-0.62	T	-0.657	T	0.214	T	0.098	2.996	15.99	4.48	1.383	1.917	6.227	0.045	0.0345319884909	.	.	8.274e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs747346222	2.737e-06	2.736e-06	1.362e-06	4.127e-06	2.319e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.323	0.18959	T	0.037	0.20876	B	0.081	0.28987	B	0.000605	0.42945	D	0.000000	0.560078	0.31264	N	0.785	0.19527	N	-0.62	0.71895	T	-0.86	0.23372	N	0.388	0.42931	-0.6568	0.62417	T	0.214	0.57573	T	10	0.13840151	0.26322	T	0.034532	0.55736	D	0.045	0.12272	0.403	0.43408	0.62036161985	0.61728	0.274427949162739	0.27355	1.10983627166	0.78020	0.590180754662	0.51519	T	0.194843	0.55074	T	-0.219646	0.18042	T	-0.456429	0.26988	T	0.425056667081326	0.29877	T	0.79652	0.44001	T	0.12833177	0.30005	0.060595177	0.11566	0.12833177	0.30005	0.060595177	0.11566	-2.831	0.08472	T	.	.	0.105	0.19194	B	.;.	.;.	4.227958	0.63999	24.6	0.99756227976626988	0.84694	0.74250	0.36320	D	ALL	0.274893	0.38997	N	-0.0725746040385274	0.38599	2.263142	0.0638129830721016	0.42745	2.590812	0.999999999999985	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.36	4.48	0.53973	2.028000	0.40709	3.993000	0.41005	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.6841:0.1642:0.1517	6.227	0.19925	721	0.55360	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1197.98	34	chr7	44967694	.	C	T	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=804;ExcessHet=0.0000;FS=0.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=0.243;SOR=0.736	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1212,0,981	20	0	1	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|1:55,44,0:99:99:0|1:47829595_G_C:401,0,698,548,820,1368:47829595	0	0	17	1
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V,	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	.	.	.	.	-1.000	T	0.055	T	0.083	0.343	5.860	-8.46	-2.174	-2.702	2.202	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3438	2447.51	210	chr7	50368104	.	C	G	2447.51	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.605e+00;DP=3458;ExcessHet=7.7275;FS=209.069;InbreedingCoeff=-0.4848;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.31;ReadPosRankSum=1.84;SOR=13.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,63:187:99:.:.:379,0,2076	5	0	11	5
chr7	50504057	50504057	C	A	exonic	DDC	.	nonsynonymous SNV	DDC:NM_001242888:exon5:c.G483T:p.M161I	Aromatic L-amino acid decarboxylase deficiency, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	711042	DDC-related_disorder|not_provided|Deficiency_of_aromatic-L-amino-acid_decarboxylase	.|MedGen:C3661900|MONDO:MONDO:0012084,MedGen:C1291564,OMIM:608643,Orphanet:35708	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.0	B	0.002	B	0.002	N	0.999	N	-1.15	N	1.52	T	-1.016	T	0.015	T	0.391	1.330	10.36	3.93	1.463	0.190	6.549	0.105	0.0111738252458	0.0018	0.000798722	0.0025	9.625e-05	0	0	0.0073	0.0037	0.0033	6.058e-05	0.0022186	343	154602	rs11575377	0.0017	0.0017	0.0016	0.0018	0.0018	0.0017	0.0016	0.0018	0.0017	0.0001	0.0002	0.0017	0	0.0060	0.0003	0.0018	0.0015	0	0.0022	0.0022	0.0023	0.0021	0.0034	0.0020	0.0019	0.0030	0.0029	9.625e-05	0	0.0004	0.0020	0	0.0077	0	0.0034	0.0014	0	0.009	0.57480	D	0.109	0.42976	T	0.0	0.02946	B	0.002	0.06944	B	0.001680	0.38326	N	0.252027	0.999744	0.21260	N	-1.185	0.00856	N	1.52	0.30669	T	1.13	0.03297	N	0.252	0.34552	-1.0163	0.24916	T	0.015	0.06042	T	10	0.009609818	0.00244	T	0.011174	0.28518	T	0.135	0.36572	0.107	0.01868	0.515659482774	0.51210	0.5331127277877139	0.53236	0.314831118833	0.33766	0.423758924007	0.28354	T	0.104164	0.41349	T	-0.507096	0.00521	T	-0.497599	0.22596	T	0.0776664128441218	0.09685	T	0.937106	0.76374	D	0.26929975	0.50002	0.18796098	0.42059	0.2508951	0.48094	0.17294744	0.39585	-5.439	0.46795	T	0.07789149179782047	0.03692	0.232	0.60215	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.568735	0.20088	14.58	0.9835693449590488	0.40608	0.56688	0.30182	D	AEFBI	0.372702	0.45825	N	0.0392534542171289	0.43650	2.653752	0.0770155434045908	0.43394	2.642142	0.967044531636928	0.28948	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.83	3.93	0.44666	0.482000	0.21985	1.617000	0.27666	-0.180000	0.10397	0.999000	0.42656	1.000000	0.68203	0.142000	0.20019	0.2567:0.6573:0.0:0.086	6.549	0.21622	673	0.60677	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	824.98	38	chr7	50504057	.	C	A	824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=802;ExcessHet=0.0000;FS=6.165;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=1.39;SOR=1.402	GT:AD:DP:GQ:PL	0/1:41,32:73:99:839,0,971	20	0	1	0
chr7	66771977	66771977	C	T	exonic	RABGEF1	.	nonsynonymous SNV	RABGEF1:NM_001367744:exon2:c.C13T:p.R5W	.	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.442e-05	0	0	0	0	3.003e-05	0	0.0004	5.82e-05	9	154602	rs765828930	3.045e-05	3.42e-05	1.928e-05	4.173e-05	0.0003	2.308e-05	2.056e-05	0.0002	0.0001	3.066e-05	0	0	2.623e-05	0	0.0002	1.63e-05	1.675e-05	0.0003	6.573e-06	1.313e-05	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	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	1	0.02381	1245.98	36	chr7	66771977	.	C	T	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=797;ExcessHet=0.0000;FS=6.385;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-4.800e-02;SOR=0.755	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1260,0,1207	20	0	1	0
chr7	73553638	73553638	A	C	exonic	BCL7B	.	nonsynonymous SNV	BCL7B:NM_001301061:exon2:c.T35G:p.V12G,	.	.	532	983	5	2	0	9	0.00455696	.	.	2825746	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	.	.	.	.	.	.	.	.	0.0041878	109	26028	rs150783798	0.0173	0.0003	0.0182	0.0166	0.0234	0.0128	0.0112	0.0168	0.0146	0	.	.	.	0.0048	0.0234	0	0.0077	0.0156	0.0038	0.0038	0.0040	0.0037	0.0098	0.0036	0.0035	0.0076	0.0068	0.0010	0	0.0050	0.0110	0	0.0007	0.0238	0.0051	0.0085	0.0098	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.241	0.27197	.	.	.	.	.	.	.	0.005997807	0.00135	T	.	.	.	.	.	.	.	0.259504319725	0.25562	0.14090083166857592	0.14013	.	.	.	.	.	0.394278	0.75346	T	-0.831954	0.00004	T	-0.965487	0.00217	T	.	.	.	0.572443	0.20452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.32005	B	.	.	0.464521	0.08344	5.092	0.63466116940903872	0.07231	0.00546	0.02508	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0869984702313369	0.16023	0.099367	0.02607	0	0.104858	0.03167	0	0.059349	0.00372	0	0.117559	0.03655	0	0.0519227	0.10831	0.429	0.429	0.15721	0.376000	0.20265	0.844000	0.22071	0.539000	0.25131	0.006000	0.17386	0.004000	0.18990	0.010000	0.09038	.	.	.	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	404.48	17	chr7	73553638	.	A	C	404.48	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.536;DP=313;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0583;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=-1.137e+00;SOR=1.022	GT:AD:DP:GQ:PL	0/1:6,8:14:99:218,0,137	19	0	2	0
chr7	82951071	82951071	G	A	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon6:c.C9517T:p.L3173F	.	.	.	.	.	.	.	.	.	.	.	1483890	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.047	B	0.032	B	.	.	1.000	N	1.59	L	2.22	T	-0.978	T	0.025	T	0.091	-0.481	1.784	3.63	0.616	2.057	1.984	0.059	0.00429554454332	8.2e-05	0.000599042	9.179e-05	0	8.75e-05	0.0006	0	6.037e-05	0	6.103e-05	9.06e-05	14	154602	rs140332141	5.884e-05	5.883e-05	5.173e-05	6.602e-05	0.0012	4.877e-05	4.497e-05	0.0010	0.0009	0	0.0002	0	0.0012	0	0	1.259e-05	0.0001	0.0001	0.0002	0.0002	0.0003	0.0001	0.0014	0.0001	0.0001	0.0007	0.0006	2.405e-05	0	0.0011	0	0.0014	0	0	0	0.0014	0	0.012	0.55530	D	0.383	0.15842	T	0.047	0.21998	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	.	.	.	2.22	0.18248	T	-2.18	0.49187	N	0.219	0.24510	-0.9779	0.35481	T	0.025	0.10866	T	9	0.023579389	0.00621	T	0.004296	0.10404	T	0.059	0.16972	.	.	0.110392049598	0.10638	0.4052033385504438	0.40436	0.0382972999509	0.04077	0.374280750751	0.21443	T	.	.	.	-0.513346	0.00480	T	-0.632432	0.10231	T	0.0331903534374123	0.02503	T	0.642936	0.26018	T	0.11874479	0.27973	0.22552694	0.47500	0.11874479	0.27972	0.22552694	0.47499	-5.344	0.40376	T	.	.	0.068	0.02797	B	.;.	.;.	2.305737	0.29507	18.15	0.92366393700038507	0.21770	0.26336	0.22964	N	AEFDBI	.	.	.	-0.295476564374107	0.29323	1.625053	-0.203698962968483	0.31404	1.776882	0.00140846876063466	0.08512	0.581397	0.33459	0	0.573888	0.26702	0	0.565031	0.19037	0	0.620846	0.47308	0	.	.	5.57	3.63	0.40741	2.463000	0.44715	5.181000	0.47864	0.618000	0.50648	0.988000	0.36536	1.000000	0.68203	0.987000	0.62547	0.1827:0.1276:0.503:0.1867	1.984	0.03224	888	0.27761	.;.	.	.	.	.	.	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	1828.98	33	chr7	82951071	.	G	A	1828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.22;DP=863;ExcessHet=0.0000;FS=3.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=1.49;SOR=0.718	GT:AD:DP:GQ:PL	0/1:85,69:154:99:1843,0,2204	20	0	1	0
chr7	92150539	92150539	C	G	exonic	LRRD1	.	nonsynonymous SNV	LRRD1:NM_001384932:exon3:c.G326C:p.R109T	.	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	.	.	0.997	D	2.835	M	1.45	T	1.004	D	0.907	D	0.866	4.491	24.1	5.76	2.710	3.666	17.741	0.583	0.258904812283	0.0004	0.000199681	0.0010	0	0	0	0.0006	0.0012	0	0.0013	0.0003558	55	154602	rs138031057	0.0012	0.0012	0.0013	0.0011	0.0048	0.0012	0.0011	0.0034	0.0029	3.197e-05	0.0004	0.0002	2.818e-05	0.0006	0.0048	0.0013	0.0014	0.0015	0.0009	0.0009	0.0010	0.0008	0.0017	0.0008	0.0007	0.0014	0.0013	0.0002	0	0.0003	0.0003	0	0.0003	0	0.0017	0.0024	0.0004	0.006	0.91255	D	0.011	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.997476	0.43918	D	2.455	0.71248	M	1.41	0.93111	T	-3.41	0.67129	D	0.432	0.47115	1.004	0.97261	D	0.907	0.96906	D	9	0.059993923	0.07301	T	0.258905	0.89426	D	0.583	0.83249	.	.	0.592167511858	0.58893	0.3163444304276735	0.31547	.	.	0.525310754776	0.42374	T	0.007308	0.06724	T	0.0873978	0.62896	D	0.33375	0.89663	D	0.0980810827425068	0.12145	T	0.605339	0.35069	T	0.47638044	0.65680	0.44925976	0.67942	0.47638044	0.65681	0.44925976	0.67942	-3.62	0.18147	T	.	.	0.339	0.67234	B	.;.;.	.;.;.	4.038526	0.59774	24.1	0.98599194234732856	0.43480	0.94075	0.60037	D	AEFBI	0.539851	0.55666	D	0.830207605354918	0.87955	9.400344	0.78953061503898	0.89055	9.820915	0.999820471907713	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.76	5.76	0.90726	3.759000	0.54939	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.741	0.88315	273	0.89298	.;.;.	.	.	.	.	.	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	996.98	35	chr7	92150539	.	C	G	996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.120e-01;DP=752;ExcessHet=0.0000;FS=3.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-7.920e-01;SOR=0.360	GT:AD:DP:GQ:PL	0/1:26,41:67:99:1011,0,599	20	0	1	0
chr7	93101432	93101432	C	T	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G4666A:p.A1556T	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	1	1496	25	0	0	25	0.00828638	.	.	700284	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.008	B	0.003	B	0.754	N	1.000	N	1.5	L	1.86	T	-1.004	T	0.035	T	0.07	0.924	8.764	-2.05	-0.334	0.961	10.236	0.048	.	0.0048	0.00359425	0.0059	0.0015	0.0049	0	0.0073	0.0083	0.0099	0.0017	0.0057632	891	154602	rs34896991	0.0063	0.0063	0.0064	0.0062	0.0071	0.0062	0.0062	0.0070	0.0070	0.0008	0.0065	0.0021	0.0003	0.0072	0.0043	0.0071	0.0054	0.0019	0.0045	0.0045	0.0044	0.0047	0.0068	0.0043	0.0041	0.0062	0.0060	0.0012	0	0.0052	0.0023	0.0002	0.0072	0.0034	0.0068	0.0052	0.0010	0.212	0.19500	T	0.079	0.42086	T	0.008	0.14655	B	0.003	0.08700	B	0.754046	0.09677	N	0.865024	1	0.08975	N	1.355	0.33814	L	1.86	0.24285	T	-0.71	0.20145	N	0.025	0.01004	-1.0039	0.28785	T	0.035	0.15247	T	10	0.0029645562	0.00048	T	.	.	.	0.048	0.13305	.	.	0.348983352498	0.34513	0.6272587216299133	0.62658	0.160453842273	0.18105	0.292616605759	0.09304	T	0.003878	0.03292	T	-0.657699	0.00065	T	-0.709554	0.05318	T	0.00963621829570929	0.00125	T	0.454355	0.12956	T	0.027358465	0.01916	0.046490066	0.06491	0.03489814	0.04004	0.046490066	0.06491	-3.564	0.17338	T	0.3150631741536978	0.41308	0.071	0.03925	B	.;.	.;.	0.561062	0.09297	6.078	0.88000363444403584	0.17641	0.07416	0.13435	N	AEFBI	0.050557	0.08847	N	-1.05932818597743	0.07406	0.3439248	-1.10292291870029	0.07644	0.3726435	0.027901927115823	0.13801	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.34	-2.05	0.06916	0.640000	0.24394	-0.433000	0.09209	-0.813000	0.03045	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7081:0.0:0.2919	10.236	0.42457	808	0.43318	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	661.98	34	chr7	93101432	.	C	T	661.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.238;DP=737;ExcessHet=0.0000;FS=2.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=-1.564e+00;SOR=1.148	GT:AD:DP:GQ:PL	0/1:34,24:58:99:676,0,911	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	0/1:164,47:211:99:.:.:276,0,4152	2	0	19	0
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.254	B	0.323	B	0.000	D	1.000	D	2.2	M	.	.	-0.539	T	0.336	T	0.848	3.986	20.4	4.74	2.629	4.848	17.024	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	359.48	99	chr7	93996297	.	C	G	359.48	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-3.848e+00;DP=2300;ExcessHet=3.5521;FS=355.066;InbreedingCoeff=-0.2345;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=0.909;SOR=13.026	GT:AD:DP:GQ:PL	0/1:70,31:108:46:46,0,1285	13	0	8	0
chr7	97990042	97990042	A	C	splicing	OCM2	NM_006188:exon1:c.61+2T>G	.	.	.	.	434	1084	4	0	0	4	0.00184162	1.0000	0.94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.419	14.05	3.49	1.479	5.741	10.139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390112627	6.19e-06	0.0002	4.647e-06	7.73e-06	1.213e-05	2.66e-06	1.92e-06	2.19e-06	1.44e-06	0	0	0	0	2.223e-05	0	6.09e-06	0	1.213e-05	5.624e-05	0.0005	7.667e-05	3.375e-05	0.0002	2.634e-05	1.799e-05	3.139e-05	1.297e-05	3.124e-05	0	0.0002	0	0	0.0004	0	1.658e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186975	0.72684	D	0.0308008	0.72330	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.670646	0.74647	26.2	0.98603581146955932	0.43546	0.95746	0.65978	D	AEFGBI	.	.	.	0.845182211011962	0.88832	9.729144	0.616035010124485	0.76103	6.429953	0.00823670763233826	0.11637	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.784209	0.46363	3.49	3.49	0.39065	6.048000	0.70674	11.017000	0.84915	0.611000	0.49015	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	1.0:0.0:0.0:0.0	10.139	0.41900	663	0.61610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	315.33	105	chr7	97990042	.	A	C	315.33	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.512e+00;DP=1848;ExcessHet=0.1072;FS=219.780;InbreedingCoeff=-0.0755;MLEAC=2;MLEAF=0.050;MQ=59.92;MQRankSum=0.00;QD=1.08;ReadPosRankSum=2.36;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:113,33:146:99:.:.:233,0,2142	18	0	2	1
chr7	99425250	99425250	C	T	exonic	ATP5MF-PTCD1;PTCD1	.	nonsynonymous SNV	PTCD1:NM_015545:exon6:c.G1282A:p.A428T	.	.	419	1069	34	0	0	34	0.0156538	.	.	2825912	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.53	T	0.06	B	0.021	B	0.323	N	1.000	N	0.345	N	-0.09	T	-1.026	T	0.105	T	0.154	1.099	9.484	2.75	0.275	0.090	6.653	0.019	.	0.0012	0.00219649	0.0022	0.0005	0.0008	0	0.0002	0.0017	0.0044	0.0083	0.0020504	317	154602	rs147045279	0.0017	0.0017	0.0014	0.0019	0.0141	0.0016	0.0016	0.0116	0.0107	0.0005	0.0011	0.0015	0	5.628e-05	0.0141	0.0012	0.0022	0.0087	0.0014	0.0014	0.0013	0.0015	0.0075	0.0013	0.0012	0.0055	0.0049	0.0004	0	0.0018	0.0017	0	9.416e-05	0.0170	0.0017	0.0033	0.0075	0.628	0.05262	T	0.581	0.08476	T	0.036	0.23119	B	0.005	0.19346	B	0.323285	0.14234	N	0.719311	1	0.08975	N	0.345	0.11182	N	-0.12	0.64630	T	0.44	0.03243	N	0.189	0.21056	-1.0264	0.21625	T	0.105	0.38464	T	10	0.0060635805	0.00136	T	.	.	.	0.019	0.03383	.	.	0.253205268125	0.24938	0.2198370897639818	0.24760	0.0920449276398	0.10393	0.221883535385	0.01422	T	0.010152	0.09188	T	-0.504016	0.00543	T	-0.490363	0.23352	T	0.000743209232149787	0.00007	T	0.238576	0.03390	T	0.021128131	0.00700	0.034246337	0.02459	0.021128131	0.00700	0.034246337	0.02459	-4.056	0.24639	T	.	.	0.066	0.02927	B	.;.	.;.	0.545576	0.09141	5.925	0.65804664471432339	0.07877	0.01854	0.05730	N	AEFBI	0.028975	0.02651	N	-1.14432020220704	0.05874	0.2689332	-1.10255730857523	0.07651	0.3730167	1.45210377330431E-4	0.05573	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.66	2.75	0.31439	0.236000	0.17745	1.932000	0.29777	-0.107000	0.15377	0.002000	0.15269	0.962000	0.29361	0.034000	0.13613	0.3204:0.1307:0.5489:0.0	6.653	0.22162	400	0.82730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	4612.92	34	chr7	99425250	.	C	T	4612.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.33;DP=1015;ExcessHet=0.6776;FS=1.657;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=0.468;SOR=0.631	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1251,0,1474	17	0	4	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.012	N	1.000	N	-0.69	N	0.82	T	-1.039	T	0.045	T	0.096	1.174	9.778	2.18	0.152	0.340	7.051	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	15996.74	114	chr7	100175805	.	G	C	15996.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.177e+00;DP=2291;ExcessHet=54.0936;FS=322.385;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=0.978;SOR=13.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,22:80:99:0|1:100175805_G_C:583,0,2335:100175805	0	0	21	0
chr7	100182145	100182145	C	A	exonic	STAG3	.	nonsynonymous SNV	STAG3:NM_001282716:exon3:c.C172A:p.R58S	Premature ovarian failure 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2337196	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.499	P	0.033	B	0.092	N	1.000	N	2.175	M	1.88	T	-0.961	T	0.075	T	0.337	1.258	10.10	4.6	2.538	0.145	13.067	0.102	0.0155703864952	.	.	3.299e-05	0	0	0	0	6e-05	0	0	3.23e-05	5	154602	rs200232685	5.474e-05	5.541e-05	6.808e-05	4.126e-05	6.708e-05	4.478e-05	4.148e-05	5.074e-05	4.653e-05	0	6.708e-05	3.827e-05	0	0	0	6.295e-05	1.657e-05	5.797e-05	2.634e-05	2.627e-05	1.287e-05	4.047e-05	5.884e-05	8.16e-06	5.15e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.884e-05	0	0	0.003	0.68238	D	0.029	0.92824	D	0.001	0.07471	B	0.006	0.12133	B	0.091610	0.20317	N	0.370961	1	0.08975	N	2.27	0.64531	M	1.88	0.27822	T	-1.07	0.83292	N	0.27	0.46649	-0.9610	0.38993	T	0.075	0.30242	T	10	0.12378469	0.23502	T	0.01557	0.36375	T	0.102	0.29158	0.222	0.14518	0.499535901811	0.49588	0.2756263458948395	0.27475	0.52393785997	0.50099	0.201897025108	0.00514	T	0.060095	0.40061	T	-0.285392	0.10104	T	-0.471876	0.25314	T	0.0947954803705215	0.11774	T	0.762324	0.38756	T	0.121911734	0.28657	0.09539669	0.22623	0.121911734	0.28657	0.09539669	0.22622	-3.038	0.10596	T	.	.	0.218	0.63329	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.052868	0.14339	10.92	0.96174661909403381	0.28939	0.05646	0.11558	N	AEFDBI	0.122012	0.23696	N	-0.435859252129776	0.24223	1.306374	-0.488076874729883	0.22480	1.221267	0.991180587039367	0.32402	0.653281	0.48532	0	0.547309	0.14657	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	4.6	4.6	0.56512	0.158000	0.16239	-0.225000	0.10728	-0.276000	0.06580	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:1.0:0.0:0.0	13.067	0.58452	278	0.89047	.;.;.;.;.;.;.;.	.	.	.	.	.	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	1687.98	38	chr7	100182145	.	C	A	1687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.994;DP=890;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.274;SOR=0.732	GT:AD:DP:GQ:PL	0/1:69,73:142:99:1702,0,1462	20	0	1	0
chr7	100562303	100562303	G	A	exonic	AGFG2	.	nonsynonymous SNV	AGFG2:NM_006076:exon7:c.G922A:p.A308T,	.	.	398	1117	7	0	0	7	0.00312361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.036	B	0.005	B	0.276	N	1.000	D	1.01	L	1.82	T	-1.052	T	0.027	T	0.195	0.497	6.698	1.06	0.020	0.541	8.952	0.050	.	0.0052	0.00259585	0.0063	0.0005	0.0025	0	0.0294	0.0073	0.0044	0.0024	0.0059378	918	154602	rs147498213	0.0072	0.0072	0.0074	0.0069	0.0074	0.0071	0.0070	0.0073	0.0072	0.0011	0.0031	0.0041	0	0.0261	0.0038	0.0074	0.0057	0.0026	0.0070	0.0070	0.0060	0.0079	0.0075	0.0066	0.0065	0.0070	0.0068	0.0016	0.0011	0.0054	0.0040	0	0.0342	0	0.0075	0.0062	0.0012	0.529	0.07048	T	0.384	0.15794	T	0.036	0.20732	B	0.005	0.11217	B	0.275701	0.15041	N	0.651840	1	0.81001	D	1.745	0.45235	L	1.82	0.25018	T	-0.66	0.19085	N	0.05	0.02179	-1.0525	0.13709	T	0.027	0.11618	T	10	0.002654612	0.00041	T	.	.	.	0.050	0.13987	.	.	0.0297737177859	0.01360	0.4199298073848164	0.41908	0.304500079718	0.32754	0.321576416492	0.13661	T	0.008227	0.07566	T	-0.573428	0.00211	T	-0.588505	0.13795	T	0.00125930116032515	0.00012	T	0.541246	0.18358	T	0.0203131	0.00586	0.03746761	0.03407	0.0203131	0.00586	0.03746761	0.03407	-4.475	0.30560	T	.	.	0.071	0.03736	B	.	.	0.874942	0.12478	9.011	0.87287483406138588	0.17120	0.44155	0.27256	N	AEFDBCI	0.057516	0.10720	N	-1.3036995822345	0.03633	0.162622	-1.21166962651975	0.05722	0.2734266	0.999674898766267	0.41644	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	4.8	1.06	0.19341	0.386000	0.20429	3.350000	0.37777	-3.602000	0.00072	0.536000	0.27236	1.000000	0.68203	0.001000	0.02609	0.2714:0.0:0.7286:0.0	8.952	0.34953	.	.	.	.	.	.	.	chr7:100159926	Likely benign	0	0	0	0	0	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	1352.98	36	chr7	100562303	.	G	A	1352.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.972;DP=814;ExcessHet=0.0000;FS=6.260;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.481;SOR=0.326	GT:AD:DP:GQ:PL	0/1:46,57:103:99:1367,0,949	20	0	1	0
chr7	100613631	100613631	G	C	exonic	MOSPD3	.	nonsynonymous SNV	MOSPD3:NM_001040099:exon3:c.G406C:p.G136R	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.761	P	0.394	B	0.228	N	0.997	D	0.69	N	.	.	-1.046	T	0.116	T	0.488	2.629	14.75	4.12	2.588	4.064	14.691	0.086	0.00464972261195	0.0008	0.000798722	0.0013	0	0.0003	0	0.0002	0.0021	0.0011	0.0008	0.0012613	195	154602	rs137921044	0.0011	0.0011	0.0011	0.0012	0.0043	0.0011	0.0010	0.0030	0.0026	0.0002	0.0004	0.0003	0	0.0002	0.0043	0.0013	0.0012	0.0010	0.0008	0.0008	0.0007	0.0009	0.0015	0.0007	0.0006	0.0010	0.0009	0.0003	0	0.0015	0	0	9.422e-05	0.0068	0.0010	0.0043	0.0004	0.095	0.31235	T	0.204	0.27235	T	0.392	0.34646	B	0.265	0.39681	B	0.228109	0.15983	N	0.562918	0.995363	0.43707	D	0	0.06538	N	.	.	.	-1.96	0.45404	N	0.466	0.50237	-1.0458	0.15592	T	0.116	0.41097	T	9	0.009234905	0.00209	T	0.00465	0.11534	T	0.086	0.25016	0.128	0.03331	0.416202232284	0.41236	0.3452238182820563	0.34436	0.761597943512	0.64286	0.649458944798	0.59909	T	0.192928	0.54824	T	-0.335457	0.05709	T	-0.267867	0.48035	T	0.0182981109104174	0.00549	T	0.858514	0.54939	D	0.12973379	0.30292	0.14189322	0.33776	0.12973379	0.30292	0.14189322	0.33775	-3.185	0.14695	T	.	.	0.159	0.36908	B	.;.;.;.;.	.;.;.;.;.	3.095149	0.41689	21.4	0.9951831737054706	0.69100	0.81012	0.40509	D	AEFGBCI	0.731940	0.67885	D	0.0762909080252874	0.45358	2.793705	0.176137047585506	0.48542	3.068813	0.999999984665784	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.651492	0.60203	0	.	.	4.12	4.12	0.47504	2.644000	0.46279	9.207000	0.79216	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.0:1.0:0.0	14.691	0.68694	702	0.57624	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	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	707.98	47	chr7	100613631	.	G	C	707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.750e-01;DP=831;ExcessHet=0.0000;FS=17.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.85;ReadPosRankSum=-1.887e+00;SOR=2.477	GT:AD:DP:GQ:PL	0/1:49,31:80:99:722,0,1342	20	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	11054.86	98	chr7	100773851	.	A	G,*	11054.86	.	AC=6,31;AF=0.143,0.738;AN=42;DP=2409;ExcessHet=1.1607;FS=0.796;InbreedingCoeff=-0.1351;MLEAC=6,31;MLEAF=0.143,0.738;MQ=60.00;QD=4.79;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,105:105:99:1|1:100773849_CCAT_C:4717,4717,4717,316,316,0:100773849	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|1:0,105,0:105:99:1|1:100773849_CCAT_C:4717,316,0,4717,316,4717:100773849	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	0/1:46,44:90:99:1119,0,1031	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|1:416,162,73:651:99:0|1:100952942_T_G:5550,0,16980,3737,14403,20985:100952942	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|1:662,95,0:757:99:0|1:100952942_T_G:1996,0,27511,3989,27797,31786:100952942	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|1:409,63,0:472:99:0|1:100953098_G_C:1414,0,16984,2645,17174,19819:100953098	0	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1141.98	562	chr7	100953158	.	G	*,T	1141.98	.	AC=18,2;AF=0.429,0.048;AN=42;BaseQRankSum=5.93;DP=11248;ExcessHet=43.6797;FS=14.318;InbreedingCoeff=-0.9091;MLEAC=18,2;MLEAF=0.429,0.048;MQ=57.68;MQRankSum=-1.628e+01;QD=0.11;ReadPosRankSum=-5.200e-01;SOR=1.607	GT:AD:DP:GQ:PL	0/2:409,0,45:469:99:658,1890,19063,0,17174,17038	1	0	18	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	2681.5	334	chr7	100953225	.	G	A,*	2681.5	.	AC=9,3;AF=0.265,0.088;AN=34;BaseQRankSum=4.49;DP=8651;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=10,3;MLEAF=0.294,0.088;MQ=58.08;MQRankSum=-1.903e+01;QD=0.52;ReadPosRankSum=-5.501e+00;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:376,27,31:434:99:0|1:100953225_G_A:146,150,15878,0,14618,15676:100953225	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	0/1:400,201,0:688:99:.:.:7236,0,16191,8440,16796,25236	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|1:772,138,0:910:99:0|1:100953490_G_T:3471,0,32001,5795,32416,38211:100953490	2	0	17	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I,	.	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	33287.25	909	chr7	100953548	.	C	G,T	33287.25	.	AC=15,3;AF=0.357,0.071;AN=42;BaseQRankSum=1.28;DP=19526;ExcessHet=30.0624;FS=0.819;InbreedingCoeff=-0.7477;MLEAC=15,3;MLEAF=0.357,0.071;MQ=55.79;MQRankSum=-8.386e+00;QD=1.94;ReadPosRankSum=3.82;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:929,74,0:1003:99:.:.:311,0,38786,3107,39009,42116	3	0	15	0
chr7	100955012	100955012	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3233A:p.R1078K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.317e-06	0.0001	4.898e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	3.939e-05	0	8.995e-06	0.0019	0	1.83e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	0.126	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	0.07244828	0.10815	T	.	.	.	.	.	.	.	.	.	0.042076156409536575	0.04152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-6.363	0.49220	T	.	.	0.154	0.34049	B	.;.	.;.	0.226431	0.06082	2.525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.247000	0.03004	-9.307000	0.00838	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	24713.07	719	chr7	100955012	.	G	C,A	24713.07	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.062e+00;DP=13307;ExcessHet=17.4423;FS=13.525;InbreedingCoeff=-0.5721;MLEAC=14,1;MLEAF=0.333,0.024;MQ=56.37;MQRankSum=-1.052e+01;QD=2.42;ReadPosRankSum=0.662;SOR=2.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:559,95,0:654:99:0|1:100954953_T_A:2306,0,23186,3989,23472,27461:100954953	6	0	14	0
chr7	100955586	100955586	T	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	47603.67	377	chr7	100955586	.	T	A,*	47603.67	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=-3.380e+00;DP=9878;ExcessHet=25.1139;FS=6.754;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.66;MQRankSum=-1.812e+01;QD=5.71;ReadPosRankSum=-7.510e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:393,57,0:450:99:0|1:100955586_T_A:1210,0,16330,2393,16502,18895:100955586	3	0	14	1
chr7	100955587	100955587	G	0	exonic	MUC3A	.	.	.	.	.	948	292	244	32	6	314	0.345291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	46737.11	377	chr7	100955587	.	G	C,*	46737.11	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=0.104;DP=9885;ExcessHet=25.1139;FS=6.502;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.65;MQRankSum=-1.817e+01;QD=5.55;ReadPosRankSum=-6.860e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:384,54,0:438:99:.:.:1074,0,11384,2227,11547,13774	3	0	14	1
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	30532.88	499	chr7	100955917	.	G	C,*	30532.88	.	AC=10,3;AF=0.278,0.083;AN=36;BaseQRankSum=-1.985e+00;DP=19448;ExcessHet=11.8493;FS=4.100;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.306,0.083;MQ=56.33;MQRankSum=-1.229e+01;QD=2.43;ReadPosRankSum=2.52;SOR=1.144	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:812,183,0:995:99:0|1:100955912_C_T:5240,0,33545,7684,34096,41780:100955912	5	0	10	3
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A,	.	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	23255.17	557	chr7	100955959	.	ACC	A,GCC	23255.17	.	AC=15,2;AF=0.357,0.048;AN=42;BaseQRankSum=3.10;DP=16785;ExcessHet=25.1139;FS=4.174;InbreedingCoeff=-0.6800;MLEAC=15,2;MLEAF=0.357,0.048;MQ=57.02;MQRankSum=-1.169e+01;QD=1.66;ReadPosRankSum=-1.368e+00;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:678,95,0:773:99:0|1:100955908_C_T:1948,0,28183,3989,28469,32458:100955908	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|1:433,271,0:704:99:0|1:100960582_T_A:9968,0,17214,11271,18029,29300:100960582	0	0	15	0
chr7	101006477	101006477	G	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon3:c.G14963T:p.C4988F,	.	.	423	1086	13	0	0	13	0.00594966	.	.	2826021	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.004	U	1.000	N	0.805	L	1.47	T	0.902	D	0.930	D	0.898	0.012	4.076	2.83	1.541	3.268	9.762	0.531	0.618071323826	.	0.00119808	0.0043	0	0	0	0	0.0007	0.0045	0.0098	0.0006209	96	154602	rs555137488	0.0008	0.0008	0.0006	0.0011	0.0094	0.0008	0.0008	0.0088	0.0086	3.166e-05	0.0004	0.0004	0	2.858e-05	0.0061	0.0003	0.0010	0.0094	0.0005	0.0005	0.0004	0.0006	0.0075	0.0004	0.0004	0.0055	0.0049	0.0001	0	0.0005	0.0017	0	9.418e-05	0	0.0003	0.0009	0.0075	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.003841	0.34414	U	0.000000	1	0.08975	N	1.87	0.49600	L	-5.93	0.99452	D	-7.14	0.94758	D	0.616	0.75742	0.902	0.95695	D	0.930	0.97676	D	8	0.027742267	0.00915	T	0.618071	0.96685	D	0.531	0.80247	.	.	0.582828786496	0.57955	0.4040606043396441	0.40322	.	.	0.411843717098	0.26711	T	0.067262	0.33158	T	0.133226	0.67674	D	0.42627	0.92939	D	0.121136840750695	0.14540	T	0.269973	0.04523	T	0.81543064	0.84914	0.725981	0.83814	0.81543064	0.84915	0.725981	0.83815	-9.377	0.70091	D	.	.	0.935	0.85467	P	.;.	.;.	2.446749	0.31499	18.76	0.61464251856208296	0.06715	0.26942	0.23137	N	AEFBI	0.149320	0.27339	N	-0.340929966810357	0.27607	1.516022	-0.452273794028015	0.23484	1.280957	4.11484181190949E-4	0.06899	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	2.83	2.83	0.32150	3.302000	0.51557	5.265000	0.48134	0.597000	0.34315	0.487000	0.26855	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	9.762	0.39704	818	0.41518	.;.	.	.	.	.	.	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	4121.11	34	chr7	101006477	.	G	T	4121.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.313e+00;DP=1027;ExcessHet=0.1072;FS=2.897;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.029;SOR=0.556	GT:AD:DP:GQ:PL	0/1:77,91:168:99:2230,0,2110	19	0	2	0
chr7	101210137	101210137	C	T	exonic	PLOD3	.	nonsynonymous SNV	PLOD3:NM_001084:exon15:c.G1639A:p.E547K,	Lysyl hydroxylase 3 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.223	B	0.023	B	0.001	D	0.972	D	1.995	M	-1.8	D	-0.317	T	0.407	T	0.502	2.694	14.97	3.76	2.171	1.957	9.989	0.372	0.0343344740907	.	.	3.173e-05	0	0	0.0002	0	0	0	9.513e-05	1.94e-05	3	154602	rs557730054	8.245e-06	8.209e-06	1.093e-05	5.53e-06	0.0002	4.4e-06	3.47e-06	4.928e-05	3.179e-05	0	0	0	0.0001	0	0.0002	2.705e-06	1.663e-05	2.352e-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	0.64	0.05002	T	0.173	0.30143	T	0.184	0.29209	B	0.023	0.19966	B	0.000962	0.40836	D	0.157726	0.971873	0.38903	D	1.79	0.46772	L	-1.8	0.83893	D	-1.09	0.28290	N	0.339	0.38027	-0.3168	0.74511	T	0.407	0.75635	T	10	0.2069689	0.36976	T	0.034334	0.55607	D	0.372	0.69102	0.419	0.46036	0.884155090706	0.88301	0.6769475058907666	0.67633	0.155923579576	0.17597	0.666646182537	0.62359	T	0.269341	0.64153	T	-0.143067	0.29403	T	-0.173982	0.57079	T	0.17371000149946	0.18829	T	0.819518	0.47762	T	0.16991344	0.37535	0.103196494	0.24755	0.16991344	0.37535	0.103196494	0.24754	-6.775	0.52373	T	0.15105447194695118	0.17792	0.073	0.04847	B	.	.	3.152801	0.42685	21.6	0.99736854242939288	0.83192	0.94092	0.60088	D	AEFDBI	0.314451	0.41931	N	-0.0349648210324888	0.40275	2.389149	0.066438603771538	0.42874	2.600969	0.0326179359667938	0.14063	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.71	3.76	0.42368	1.712000	0.37560	2.552000	0.33269	0.524000	0.24156	0.845000	0.30364	0.990000	0.31317	0.709000	0.34421	0.0:0.7936:0.2063:0.0	9.989	0.41030	877	0.30165	.	.	.	.	.	.	Uncertain significance	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	686.98	35	chr7	101210137	.	C	T	686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.625;DP=774;ExcessHet=0.0000;FS=2.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=0.718;SOR=0.643	GT:AD:DP:GQ:PL	0/1:23,30:53:99:701,0,448	20	0	1	0
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.005	N	1.000	D	-0.515	N	0.26	T	-0.990	T	0.059	T	0.045	-0.292	2.603	3.61	1.478	0.025	7.418	0.102	0.00550950631605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.541	0.10678	T	0.0	0.02946	B	0.002	0.06944	B	0.004721	0.33446	N	0.207615	1	0.81001	D	-0.18	0.04256	N	0.26	0.59314	T	2.97	0.00304	N	0.088	0.06587	-0.9900	0.32601	T	0.059	0.24871	T	10	0.0402624	0.02580	T	0.00551	0.14197	T	0.102	0.29158	0.593	0.72247	0.630674063255	0.62765	0.32803734693529624	0.32716	0.23164822142	0.25718	0.39575278759	0.24477	T	0.001762	0.01186	T	-0.263963	0.12439	T	-0.616941	0.11426	T	0.0953304618597031	0.11836	T	0.758424	0.38228	T	0.07261241	0.16165	0.063943654	0.12744	0.07261241	0.16165	0.063943654	0.12743	-1.533	0.03110	T	.	.	0.084	0.33156	B	.;.	.;.	1.403225	0.18178	13.59	0.79853046318071419	0.12930	0.67709	0.33531	D	AEFDBIJ	0.199371	0.32618	N	-0.6476857485773	0.17528	0.9027043	-0.402716744649766	0.24916	1.367225	0.999999761740133	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	3.61	0.40494	0.038000	0.13749	0.020000	0.13575	0.676000	0.76740	0.830000	0.30133	0.455000	0.24973	0.993000	0.69303	0.1452:0.1381:0.7166:0.0	7.418	0.26231	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	849.76	35	chr7	102934282	.	G	C	849.76	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-5.273e+00;DP=2518;ExcessHet=1.7912;FS=177.018;InbreedingCoeff=-0.1745;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.346;SOR=11.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,38:197:99:0|1:102934282_G_C:238,0,5511:102934282	15	0	6	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.58	M	0.09	T	-0.079	T	0.414	T	0.931	4.705	26.1	4.65	1.469	7.967	14.775	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	1847.14	124	chr7	102934283	.	G	C	1847.14	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-4.298e+00;DP=2977;ExcessHet=6.1002;FS=207.422;InbreedingCoeff=-0.3468;MLEAC=11;MLEAF=0.275;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.257;SOR=12.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,38:197:99:0|1:102934282_G_C:238,0,5511:102934282	10	0	10	1
chr7	110886666	110886666	T	C	exonic	IMMP2L	.	nonsynonymous SNV	IMMP2L:NM_032549:exon5:c.A335G:p.K112R	.	.	420	1095	6	1	0	8	0.00363967	.	.	3208172	IMMP2L-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.67	T	0.002	B	0.012	B	0.000	N	1.000	D	0.08	N	.	.	-1.070	T	0.065	T	0.125	2.097	12.97	0.414	-0.148	0.598	9.663	0.088	.	.	0.00139776	0.0017	9.617e-05	0.0004	0	0	9.017e-05	0.0033	0.0114	0.0014165	219	154602	rs200836792	0.0008	0.0008	0.0005	0.0010	0.0104	0.0007	0.0007	0.0098	0.0096	3.014e-05	0.0004	0	0	0	0.0010	9.616e-05	0.0011	0.0104	0.0004	0.0004	0.0003	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	9.625e-05	0	0.0002	0	0	0	0.0034	0.0002	0	0.0091	0.549	0.09514	T	0.749	0.23365	T	0.002	0.09854	B	0.012	0.16012	B	0.000013	0.62929	N	0.147879	0.976498	0.27063	N	0.415	0.12483	N	.	.	.	-0.22	0.10480	N	0.223	0.25006	-1.0695	0.09523	T	0.065	0.26983	T	9	0.009037107	0.00205	T	.	.	.	0.088	0.25558	.	.	0.3349148499	0.33108	0.33534223347946146	0.33447	0.11506021578	0.12980	0.315772652626	0.12780	T	0.087393	0.37932	T	-0.552624	0.00281	T	-0.557187	0.16642	T	0.0130221574993659	0.00227	T	0.788521	0.42806	T	0.05327822	0.10058	0.054215528	0.09283	0.05327822	0.10058	0.054215528	0.09283	-3.643	0.18481	T	.	.	0.083	0.09917	B	.;.;.;.	.;.;.;.	0.617529	0.09862	6.622	0.99194142721685719	0.55083	0.66508	0.33103	D	AEFI	0.160326	0.28625	N	-0.850501583370816	0.12038	0.5843677	-0.663273397227511	0.17882	0.952834	1.59830198516366E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.58	0.414	0.15624	0.668000	0.24808	0.446000	0.18474	-0.817000	0.03001	0.999000	0.42656	0.999000	0.35428	0.888000	0.42677	0.0:0.2617:0.0:0.7383	9.663	0.39132	639	0.64210	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2641.98	36	chr7	110886666	.	T	C	2641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.726e+00;DP=949;ExcessHet=0.0000;FS=1.015;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-3.160e-01;SOR=0.782	GT:AD:DP:GQ:PL	0/1:114,115:229:99:2656,0,2814	20	0	1	0
chr7	124032406	124032408	GCT	-	exonic	TMEM229A	.	nonframeshift deletion	TMEM229A:NM_001136002:exon1:c.596_598del:p.Q200del,	.	.	414	602	321	84	101	590	0.288836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8600.32	36	chr7	124032402	.	CGCTGCT	C,CGCT	8600.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-6.570e-01;DP=1005;ExcessHet=0.9430;FS=4.707;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=23.50;ReadPosRankSum=0.410;SOR=0.923	GT:AD:DP:GQ:PL	0/1:16,14,0:30:99:540,0,629,588,672,1260	13	1	6	0
chr7	131556276	131556276	-	GGCGAC	exonic	PODXL	.	nonframeshift insertion	PODXL:NM_001018111:exon1:c.83_84insGTCGCC:p.S31_Q32insPS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	24221.88	24	chr7	131556270	.	GGGCGAC	G,GGGCGACGGCGAC	24221.88	.	AC=15,13;AF=0.357,0.310;AN=42;BaseQRankSum=0.430;DP=932;ExcessHet=0.0019;FS=0.000;InbreedingCoeff=0.5714;MLEAC=15,13;MLEAF=0.357,0.310;MQ=60.00;MQRankSum=0.00;QD=33.09;ReadPosRankSum=0.348;SOR=0.686	GT:AD:DP:GQ:PL	0/1:11,17,0:28:99:674,0,370,708,421,1129	5	3	3	0
chr7	134947563	134947563	G	A	exonic	CALD1	.	nonsynonymous SNV	CALD1:NM_033140:exon5:c.G805A:p.V269M	.	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.986	D	0.905	P	0.019	N	0.985	N	2.34	M	0.65	T	-0.871	T	0.181	T	0.259	1.082	9.416	4.06	1.075	2.034	8.680	0.165	.	0.0067	0.00359425	0.0124	0.0016	0.0063	0	0.0275	0.0228	0	0.0048	0.0058279	901	154602	rs35067327	0.0099	0.0098	0.0099	0.0098	0.0115	0.0097	0.0097	0.0113	0.0112	0.0014	0.0024	0.0055	0	0.0083	0.0030	0.0115	0.0074	0.0042	0.0067	0.0067	0.0072	0.0062	0.0117	0.0063	0.0062	0.0110	0.0108	0.0016	0.0088	0.0016	0.0075	0	0.0071	0	0.0117	0.0038	0.0029	0.042	0.54683	D	0.138	0.41074	T	0.514	0.61523	P	0.452	0.64260	P	0.018803	0.27398	N	0.169689	0.985209	0.24732	N	2.32	0.66415	M	0.65	0.52642	T	-0.51	0.23156	N	0.29	0.46368	-0.8706	0.50484	T	0.181	0.52889	T	10	0.008723199	0.00198	T	.	.	.	0.165	0.42395	.	.	0.524636165829	0.52109	0.012877679915604491	0.01245	0.146789417381	0.16567	0.558288216591	0.47026	T	0.116245	0.62507	T	-0.43735	0.01340	T	-0.387373	0.34861	T	0.051932320686832	0.05836	T	0.963754	0.87984	D	0.0527335	0.09877	0.07530616	0.16567	0.0527335	0.09876	0.07530616	0.16566	-4.949	0.38117	T	.	.	0.156	0.40392	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.798384	0.54714	23.5	0.95788504027778065	0.27823	0.76453	0.37497	D	AEFDBI	0.415837	0.48454	N	-0.118425637966304	0.36591	2.117086	-0.222554232845467	0.30729	1.73274	0.99991753074218	0.45857	0.706548	0.73137	0	0.59043	0.45803	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.94	4.06	0.46572	2.469000	0.44768	10.635000	0.83508	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.0854:0.153:0.7616:0.0	8.680	0.33367	846	0.36215	.;.;.;.;.;.;.;.	.	.	.	.	rs35067327	Uncertain significance	0	0	0	0	0	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	487.98	35	chr7	134947563	.	G	A	487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.180e-01;DP=745;ExcessHet=0.0000;FS=1.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=0.907;SOR=0.990	GT:AD:DP:GQ:PL	0/1:25,22:47:99:502,0,631	20	0	1	0
chr7	142773313	142773313	G	A	exonic	PRSS2	.	nonsynonymous SNV	PRSS2:NM_002770:exon3:c.G248A:p.G83E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs751548923	4.79e-05	0.0002	5.991e-05	3.576e-05	6.207e-05	3.861e-05	3.541e-05	4.988e-05	4.57e-05	2.987e-05	0	0	0	0	0	6.207e-05	0	0	7.222e-05	0.0001	0.0001	2.686e-05	0.0002	3.968e-05	3.125e-05	9.048e-05	7.012e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.058	0.66756	T	.	.	.	.	.	.	0.000000	0.84330	D	0.089188	0.999989	0.54805	D	.	.	.	.	.	.	.	.	.	0.614	0.68603	0.132	0.84747	D	0.550	0.83527	D	10	0.91851616	0.91209	D	0.15379	0.83500	D	.	.	0.715	0.85051	.	.	0.6039606376462681	0.60327	.	.	0.43368434906	0.29712	T	0.079335	0.85921	T	0.329841	0.85154	D	0.236018	0.84960	D	0.993505120277405	0.84328	D	0.748625	0.36937	T	0.47272354	0.65458	0.65787554	0.79962	0.47272354	0.65458	0.65787554	0.79963	-8.265	0.62861	D	.	.	0.386	0.60068	A	.;.;.;.	.;.;.;.	4.172297	0.62744	24.5	0.99326982048274159	0.59622	0.94022	0.59878	D	AEFBI	.	.	.	0.0799654814585736	0.45529	2.807892	0.0130212056036111	0.40318	2.404278	0.59344749383873	0.21666	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	3.28	0.36691	6.614000	0.74067	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.1181:0.0:0.8819:0.0	9.163	0.36194	782	0.47442	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1013.98	171	chr7	142773313	.	G	A	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.000e-03;DP=4203;ExcessHet=0.0000;FS=1.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.58;MQRankSum=-4.495e+00;QD=2.51;ReadPosRankSum=-3.880e-01;SOR=0.525	GT:AD:DP:GQ:PL	0/1:327,77:404:99:1028,0,12061	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	1/1:0,84,0,0:84:99:3688,253,0,3688,253,3688,3688,253,3688,3688	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	1/1:0,84,0,0:84:99:3688,253,0,3688,253,3688,3688,253,3688,3688	0	16	2	0
chr7	142940391	142940391	C	T	exonic	LLCFC1	.	nonsynonymous SNV	LLCFC1:NM_001382496:exon2:c.C173T:p.S58F,	.	.	425	1078	18	1	0	20	0.00919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.005	N	0.709	D	1.445	L	.	.	-0.373	T	0.256	T	0.46	3.113	16.40	4.38	2.430	2.396	12.634	0.162	0.00688694491776	0.0021	0.000399361	0.0018	0.0006	0.0013	0	0.0014	0.0026	0	0.0010	0.0019405	300	154602	rs143475597	0.0029	0.0029	0.0028	0.0029	0.0054	0.0028	0.0028	0.0039	0.0034	0.0004	0.0009	0.0004	0	0.0012	0.0054	0.0034	0.0028	0.0011	0.0021	0.0021	0.0023	0.0020	0.0035	0.0019	0.0019	0.0032	0.0030	0.0006	0	0.0022	0.0003	0	0.0015	0.0034	0.0035	0.0019	0.0010	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	0.004720	0.33466	N	0.139105	0.70857	0.33495	D	.	.	.	.	.	.	-5.91	0.88904	D	0.374	0.41557	-0.3731	0.72866	T	0.256	0.62665	T	9	0.01358062	0.00288	T	0.006887	0.18233	T	0.162	0.41843	.	.	0.183819452728	0.17975	0.21092932366345982	0.21008	0.185773801594	0.20887	.	.	.	.	.	.	-0.326534	0.06376	T	-0.241964	0.50606	T	0.0327464138630547	0.02429	T	.	.	.	.	.	.	.	.	.	.	.	-4.499	0.30876	T	.	.	0.623	0.69832	P	.	.	3.954746	0.57957	23.9	0.99783856998318676	0.87043	0.69069	0.34043	D	AEFDBCI	0.298094	0.40750	N	0.4490503240225	0.64149	4.663066	0.393618273009087	0.61171	4.313518	0.99995486208824	0.48110	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.38	4.38	0.52019	2.406000	0.44210	.	.	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	12.634	0.56035	683	0.59664	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	7739.68	33	chr7	142940391	.	C	T	7739.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.148;DP=1318;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.468;SOR=0.662	GT:AD:DP:GQ:PL	0/1:106,110:216:99:2749,0,2797	18	0	3	0
chr7	143382366	143382368	GGA	-	exonic	ZYX	.	nonframeshift deletion	ZYX:NM_001010972:exon3:c.327_329del:p.E112del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368962801	1.041e-05	1.026e-05	1.102e-05	9.781e-06	0.0002	6.25e-06	4.95e-06	7.913e-05	5.601e-05	0	0.0002	0	0	0	0	6.359e-06	1.686e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1119.94	39	chr7	143382365	.	TGGA	T	1119.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.171;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=-8.800e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/1:42,30:72:99:1134,0,1652	20	0	1	0
chr7	144184229	144184229	T	A	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.T726A:p.N242K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.254	B	0.139	B	.	.	1.000	N	2.7	M	1.34	T	-0.947	T	0.103	T	0.02	-0.202	3.021	.	0.129	-0.162	2.884	0.066	0.00135166170972	.	.	1.014e-05	0	0	0	0	1.8e-05	0	0	3.84e-05	1	26028	rs755715670	4.246e-06	4.176e-06	5.636e-06	2.843e-06	5.56e-06	1.53e-06	1e-06	2e-06	1.31e-06	0	0	0	0	0	0	5.56e-06	0	0	0	6.974e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.31987	T	0.039	0.51112	D	0.254	0.31272	B	0.139	0.33484	B	.	.	.	.	1	0.08975	N	2.5	0.72771	M	1.34	0.34841	T	-2.9	0.60827	D	0.21	0.23380	-0.9474	0.41414	T	0.103	0.37894	T	8	0.13958481	0.26538	T	0.001352	0.01936	T	0.066	0.19193	0.248	0.18447	0.369309618794	0.36543	0.07207813145129931	0.07144	.	.	0.618998289108	0.55588	T	0.102705	0.41069	T	-0.360377	0.04109	T	-0.685595	0.06647	T	0.144584093388123	0.16663	T	0.779322	0.41328	T	0.16605155	0.36916	0.14269619	0.33939	0.16605155	0.36915	0.14269619	0.33938	-6.341	0.49047	T	.	.	0.193	0.41310	B	.	.	1.358724	0.17673	13.30	0.51605724612386916	0.04593	0.00131	0.00809	N	AEI	0.031641	0.03423	N	-0.766572269902481	0.14187	0.7047054	-0.966634048326421	0.10540	0.531471	9.4109173768131E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	0.423000	0.21032	-1.183000	0.06091	0.220000	0.18069	0.998000	0.41325	0.000000	0.08366	0.145000	0.20128	0.0:0.0:0.4925:0.5075	2.884	0.05307	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	0.025	1298.53	36	chr7	144184229	.	T	A	1298.53	.	AC=1;AF=0.025;AN=40;BaseQRankSum=4.25;DP=916;ExcessHet=0.0000;FS=6.162;InbreedingCoeff=-0.0325;MLEAC=1;MLEAF=0.025;MQ=31.61;MQRankSum=-4.220e-01;QD=4.42;ReadPosRankSum=1.69;SOR=0.525	GT:AD:DP:GQ:PL	0/1:212,82:294:99:1312,0,4660	19	0	1	1
chr7	150467101	150467101	C	G	exonic	GIMAP8	.	nonsynonymous SNV	GIMAP8:NM_175571:exon2:c.C403G:p.R135G,	.	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.954	P	0.781	P	0.259	N	1.000	N	1.635	L	0.08	T	-0.886	T	0.181	T	0.248	2.441	14.12	-4.43	-0.729	-1.777	3.572	0.126	0.0132189459023	.	.	0.0011	0.0002	0.0003	0	0.0051	0.0013	0.0044	0.0005	0.0011643	180	154602	rs143212982	0.0014	0.0014	0.0015	0.0014	0.0016	0.0014	0.0014	0.0015	0.0015	0.0002	0.0004	3.826e-05	0	0.0041	0.0016	0.0016	0.0012	0.0003	0.0012	0.0012	0.0009	0.0015	0.0014	0.0010	0.0010	0.0011	0.0011	0.0004	0	0.0013	0	0	0.0044	0	0.0014	0	0.0006	0.013	0.53900	D	0.113	0.36901	T	0.954	0.54400	P	0.781	0.57337	P	0.259278	0.15347	N	0.525245	1	0.08975	N	1.72	0.44442	L	0.08	0.61559	T	-3.43	0.67359	D	0.202	0.22357	-0.8864	0.49240	T	0.181	0.52889	T	10	0.010969251	0.00242	T	0.013219	0.32452	T	0.126	0.34673	.	.	0.560872651919	0.55748	0.3957581991430946	0.39490	0.642053577171	0.57782	0.211359262466	0.00870	T	0.03757	0.24522	T	-0.454664	0.01060	T	-0.429861	0.29949	T	0.0728264867829109	0.09042	T	0.681032	0.28992	T	0.1331624	0.30981	0.14464329	0.34333	0.1331624	0.30981	0.14464329	0.34333	-7.255	0.55875	T	.	.	0.135	0.29255	B	.	.	0.259902	0.06385	2.850	0.97687211379868821	0.35352	0.02781	0.07488	N	AEFDBI	0.185510	0.31283	N	-0.719677085443754	0.15469	0.7798497	-0.993915176695477	0.09920	0.496481	0.99999402349655	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.657636	0.52715	0	0.648885	0.59868	0	.	.	4.47	-4.43	0.03319	-2.945000	0.00746	-7.458000	0.01152	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.145000	0.20128	0.3892:0.2714:0.0:0.3394	3.572	0.07473	946	0.12043	AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) 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	1794.98	39	chr7	150467101	.	C	G	1794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.955;DP=906;ExcessHet=0.0000;FS=3.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=-1.487e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/1:71,70:141:99:1809,0,1764	20	0	1	0
chr7	151024399	151024399	C	A	exonic	ATG9B	.	nonsynonymous SNV	ATG9B:NM_001317056:exon1:c.G25T:p.G9W,	.	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.881	P	0.275	B	0.110	N	.	.	.	.	.	.	-0.953	T	0.074	T	0.24	-0.618	1.253	1.52	0.471	0.530	6.588	0.061	.	.	0.00159744	0.0026	0	0.0017	0	0	0.0021	0	0.0217	0.0006274	97	154602	rs545139907	0.0005	0.0006	0.0004	0.0006	0.0064	0.0005	0.0005	0.0058	0.0055	7.618e-05	0.0007	0.0039	0.0004	2.417e-05	0.0058	0.0002	0.0009	0.0064	0.0007	0.0007	0.0005	0.0009	0.0081	0.0006	0.0005	0.0061	0.0054	0.0002	0	0.0017	0.0026	0	0	0.0171	0.0002	0.0014	0.0081	.	.	.	0.024	0.56640	D	0.881	0.48446	P	0.275	0.40079	B	0.110496	0.19440	N	0.434947	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.44474	-0.9532	0.40416	T	0.074	0.29897	T	7	0.0054236054	0.00119	T	.	.	.	.	.	.	.	0.441324992753	0.43756	0.16623656053761898	0.16543	.	.	0.422532200813	0.28186	T	0.032365	0.22453	T	-0.337211	0.05584	T	-0.252731	0.49547	T	0.107801700220323	0.13194	T	0.49655	0.15423	T	0.044533964	0.07136	0.066472635	0.13623	0.044533964	0.07136	0.066472635	0.13623	-4.823	0.34858	T	.	.	0.174	0.38172	B	.;.	.;.	2.273833	0.29066	18.00	0.6570393647721422	0.07848	0.67269	0.33372	D	AEFDBCI	0.371147	0.45727	N	-0.327890253594571	0.28092	1.54667	-0.391151531960423	0.25259	1.388052	0.999997272871623	0.74766	0.07523	0.01759	0	0.109994	0.03358	0	0.056003	0.00319	0	0.079188	0.02158	0	.	.	4.36	1.52	0.22158	0.312000	0.19147	1.317000	0.25577	-0.972000	0.01937	0.988000	0.36536	1.000000	0.68203	0.002000	0.04165	0.0:0.6834:0.0:0.3166	6.588	0.21827	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2202.11	118	chr7	151024399	.	C	A	2202.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.597;DP=1086;ExcessHet=0.1072;FS=1.037;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.400;SOR=0.687	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1085,0,1364	19	0	2	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,	.	YES	526	320	669	7	0	683	0.516251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	U	1.000	D	2.11	M	-2.28	D	0.656	D	0.754	D	0.82	3.081	16.29	4.67	1.866	9.283	14.405	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	21206.9	371	chr7	152229940	.	A	G	21206.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-6.890e-01;DP=6803;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=44.68;MQRankSum=0.452;QD=3.93;ReadPosRankSum=0.208;SOR=0.720	GT:AD:DP:GQ:PL	0/1:167,56:223:99:832,0,5598	4	0	17	0
chr8	1548827	1548827	C	G	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon5:c.C374G:p.A125G,	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.73	P	0.147	B	0.024	N	1.000	N	0.435	N	2.76	T	-1.033	T	0.079	T	0.099	1.865	12.20	4.01	1.056	3.723	13.054	0.051	0.0094776966078	.	.	0.0001	0	0	0	0.0016	0.0001	0	0	5.17e-05	8	154602	rs753583566	3.642e-05	4.446e-05	3.749e-05	3.532e-05	0.0005	2.828e-05	2.561e-05	0.0001	7.888e-05	0	4.658e-05	0	0	0.0006	0.0005	1.91e-05	3.38e-05	0	6.572e-05	6.567e-05	6.424e-05	6.726e-05	1.47e-05	3.517e-05	2.616e-05	.	.	0	0	0	0	0	0.0008	0	1.47e-05	0	0	.	.	.	0.317	0.19304	T	0.611	0.39680	P	0.07	0.27859	B	0.024236	0.26299	N	0.465951	1	0.08975	N	0.675	0.16386	N	.	.	.	.	.	.	0.314	0.35408	-1.0329	0.19522	T	0.079	0.31496	T	10	0.027062178	0.00859	T	0.009478	0.24832	T	0.077	0.22490	0.112	0.02175	0.165150595986	0.16160	0.1725875137534764	0.17178	0.117517440466	0.13235	0.514366865158	0.40834	T	0.009727	0.23699	T	-0.445118	0.01206	T	-0.696246	0.06033	T	0.0678141469227483	0.08341	T	0.787921	0.44184	T	0.036723398	0.04572	0.09386044	0.22191	0.036723398	0.04572	0.09386044	0.22191	-5.042	0.37293	T	.	.	0.083	0.10304	B	.;.;.	.;.;.	2.735396	0.35818	20.0	0.98343006976186587	0.40457	0.63168	0.32005	D	AEFDBHCI	0.326763	0.42793	N	-0.188486733411212	0.33612	1.908963	-0.178920615688711	0.32313	1.837128	0.999996279085486	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.505578	0.09266	0	0.613276	0.41899	0	.	.	4.89	4.01	0.45821	3.792000	0.55181	1.054000	0.23662	0.597000	0.34315	0.772000	0.29380	0.000000	0.08366	0.132000	0.19645	0.0:0.9215:0.0:0.0785	13.054	0.58379	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	0	0	0	0	0.02381	713.98	40	chr8	1548827	.	C	G	713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.262;DP=862;ExcessHet=0.0000;FS=6.365;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=-7.920e-01;SOR=1.080	GT:AD:DP:GQ:PL	0/1:42,28:70:99:728,0,1142	20	0	1	0
chr8	2001252	2001252	-	GAGAGC	exonic	KBTBD11	.	nonframeshift insertion	KBTBD11:NM_014867:exon2:c.60_61insGAGAGC:p.E25_G26insSE,	.	.	254	1263	5	0	0	5	0.0019755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0049	0	0	0	0	0	0	0.0078	0.0002305	6	26028	rs560567428	0.0004	0.0004	0.0003	0.0005	0.0048	0.0004	0.0003	0.0044	0.0042	7.073e-05	0.0003	0	0.0002	0	0.0011	0.0001	0.0005	0.0048	0.0002	0.0003	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0.0001	0	0.0002	0	0.0034	0.0002	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	898.94	33	chr8	2001252	.	G	GGAGAGC	898.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.750e-01;DP=731;ExcessHet=0.0000;FS=1.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.98;ReadPosRankSum=0.612;SOR=0.859	GT:AD:DP:GQ:PL	0/1:26,24:50:99:913,0,999	20	0	1	0
chr8	6439052	6439052	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172574:exon6:c.G536A:p.R179K	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.994	D	0.000	D	1.000	D	2.74	M	2.86	T	-0.969	T	0.124	T	0.429	3.285	17.03	5.5	2.741	5.964	17.264	0.181	0.0225692198484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999719	0.81001	D	2.585	0.75554	M	2.86	0.13434	T	-1.66	0.44657	N	0.646	0.76481	-0.9685	0.37510	T	0.124	0.42799	T	10	0.60396415	0.67069	D	0.022569	0.45471	T	0.181	0.45247	0.232	0.16005	0.669386746705	0.66659	0.4669121289294924	0.46610	.	.	0.407298445702	0.26083	T	0.346928	0.71512	T	-0.0843929	0.38997	T	-0.359001	0.38168	T	0.93335622549057	0.60005	D	.	.	.	0.45933947	0.64629	0.41183105	0.65403	0.45933947	0.64630	0.41183105	0.65403	-9.541	0.71114	D	.	.	0.236	0.46983	B	.;.	.;.	4.240921	0.64293	24.7	0.99465292039328934	0.66049	0.95370	0.64455	D	AEFBI	0.490283	0.52783	N	0.648766155877296	0.76290	6.459061	0.540307966424217	0.70725	5.547713	0.999999998757797	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.5	5.5	0.81386	6.422000	0.73266	9.541000	0.80962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	17.264	0.86967	975	0.05339	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	103.68	67	chr8	6439052	.	G	A	103.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.700e+00;DP=1145;ExcessHet=0.3300;FS=99.365;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=0.848;SOR=7.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,12:84:33:0|1:6439052_G_A:33,0,2564:6439052	18	0	3	0
chr8	7976907	7976907	G	A	exonic	USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.C1079T:p.T360I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs906769079	0.0004	0.0035	0.0003	0.0006	0.0018	0.0004	0.0003	0.0010	0.0008	4.814e-05	0	0	0.0018	0	0	0.0004	0.0008	0.0009	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2.255	0.64187	M	.	.	.	.	.	.	0.087	0.06454	.	.	.	.	.	.	.	0.014506668	0.00305	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.011766013158553934	0.01136	.	.	0.512685418129	0.40597	T	0.021512	0.16737	T	-0.0518595	0.44165	T	-0.312269	0.43416	T	.	.	.	0.150185	0.01264	T	0.106639884	0.25216	0.22582935	0.47541	0.106639884	0.25216	0.22582935	0.47540	-8.992	0.67646	D	.	.	0.147	0.32420	B	.	.	1.730117	0.22019	15.45	0.66203521282350297	0.07990	0.06499	0.12509	N	AEFI	.	.	.	.	.	.	.	.	.	1.11964626091324E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0823262	0.18828	0.432	0.432	0.15742	-0.381000	0.07475	0.678000	0.20656	-0.330000	0.05784	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	40.19	34	chr8	7976907	.	G	A	40.19	.	AC=2;AF=0.143;AN=14;DP=131;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.214;MQ=45.00;QD=20.09;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	14
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|1:186,95:281:99:0|1:10609943_C_T:2189,0,6390:10609943	2	0	16	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-1.090	0.153	0.493	0.514	-0.384	6.300	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,95,0:281:99:0|1:10609943_C_T:2189,0,6399,2741,6677,9418:10609943	0	0	15	4
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-0.967	0.313	0.493	0.514	-0.384	6.300	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,95,0:281:99:0|1:10609943_C_T:2189,0,6399,2741,6677,9418:10609943	0	0	15	4
chr8	11761832	11761832	G	T	exonic	C8orf49	.	nonsynonymous SNV	C8orf49:NM_001031839:exon1:c.G419T:p.C140F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.632	P	.	.	1.000	N	.	.	1.52	T	-1.043	T	0.089	T	0.304	2.019	12.71	1.4	0.514	0.246	6.81	0.075	0.000794454176548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	79.21	2	chr8	11761832	.	G	T	79.21	.	AC=2;AF=0.077;AN=26;DP=81;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1917;MLEAC=2;MLEAF=0.077;MQ=60.00;QD=28.43;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:11761825_C_T:91,6,0:11761825	12	1	0	8
chr8	13021792	13021792	-	G	exonic	TRMT9B	.	frameshift insertion	TRMT9B:NM_001099677:exon2:c.736dupG:p.A246Gfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1410.94	86	chr8	13021792	.	T	TG	1410.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=2081;ExcessHet=0.0000;FS=2.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-1.038e+00;SOR=0.963	GT:AD:DP:GQ:PL	0/1:74,48:122:99:1425,0,2390	20	0	1	0
chr8	19313807	19313807	A	-	exonic	SH2D4A	.	frameshift deletion	SH2D4A:NM_001174160:exon1:c.30delA:p.A12Rfs*24,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs565027575	3.615e-05	3.489e-05	2.912e-05	4.337e-05	0.0013	2.767e-05	2.493e-05	0.0006	0.0004	0	6.031e-05	0	0	3.013e-05	0.0013	3.472e-05	3.526e-05	0	5.912e-05	5.907e-05	5.143e-05	6.716e-05	0.0001	3.077e-05	2.21e-05	2.848e-05	1.859e-05	0	0	0.0001	0	0	0	0.0068	7.356e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	743.94	36	chr8	19313806	.	CA	C	743.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.818e+00;DP=772;ExcessHet=0.0000;FS=1.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.194;SOR=0.812	GT:AD:DP:GQ:PL	0/1:33,24:57:99:758,0,1303	20	0	1	0
chr8	21999193	21999193	G	A	exonic	XPO7	.	nonsynonymous SNV	XPO7:NM_001362802:exon22:c.G2465A:p.S822N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.955	P	0.709	P	0.000	D	1.000	D	1.905	M	0.89	T	-0.905	T	0.195	T	0.324	4.332	22.8	5.83	2.774	9.865	19.782	0.366	0.0193655611723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.104e-06	5.445e-06	2.751e-06	2.987e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	2.987e-05	0	0	0	0	0	1.799e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.321	0.43913	T	0.116	0.54515	B	0.091	0.54472	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.385	0.34509	L	0.89	0.45636	T	-2.12	0.48184	N	0.758	0.75834	-0.9049	0.47458	T	0.195	0.54855	T	10	0.4181844	0.56684	T	0.019366	0.41714	T	0.366	0.68582	.	.	0.0675242888579	0.06100	0.7189786172465736	0.71840	0.898319418033	0.70545	0.868975818157	0.92421	D	0.08064	0.36411	T	-0.0883235	0.38354	T	-0.364647	0.37514	T	0.769714117050171	0.44422	D	0.918008	0.86020	D	0.27744275	0.50802	0.33122456	0.58984	0.27744275	0.50802	0.33122456	0.58983	-6.378	0.49338	T	.	.	0.474	0.65452	A	.;.;.	.;.;.	4.647295	0.74039	26.1	0.99733174582213135	0.82904	0.99450	0.96181	D	AEFDGBI	0.927666	0.91069	D	0.477599380253253	0.65783	4.866274	0.606459199714847	0.75407	6.305225	0.999999999999623	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	10.003000	0.99689	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.782	0.96418	690	0.58899	.;.;.	.	.	.	.	.	Uncertain significance	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	4381.08	36	chr8	21999193	.	G	A	4381.08	.	AC=2;AF=0.048;AN=42;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.07;SOR=0.707	GT:AD:DP:GQ:PL	1/1:0,141:141:99:4409,423,0	20	1	0	0
chr8	23316985	23316985	C	T	exonic	LOXL2	.	nonsynonymous SNV	LOXL2:NM_002318:exon9:c.G1600A:p.G534R,	.	.	211	1309	2	0	0	2	0.000763359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.979	D	0.000	D	1.000	D	1.825	L	1.54	T	-1.036	T	0.038	T	0.716	4.926	28.5	5.39	2.678	4.960	18.097	0.238	.	0.0012	0.014377	0.0134	0.0021	0.0942	0.0142	0.0353	0.0020	0.0170	0.0006	0.0120309	1860	154602	rs149587418	0.0046	0.0046	0.0050	0.0041	0.0795	0.0045	0.0045	0.0773	0.0764	0.0011	0.0795	0	0.0160	0.0333	0.0002	0.0003	0.0048	0.0011	0.0092	0.0092	0.0071	0.0114	0.0465	0.0088	0.0086	0.0436	0.0425	0.0024	0	0.0465	0	0.0164	0.0380	0	0.0011	0.0061	0.0017	0.003	0.68238	D	0.11	0.37310	T	0.939	0.52645	P	0.889	0.63100	P	0.000001	0.84330	D	0.093979	1	0.81001	D	0.88	0.21560	L	1.54	0.30133	T	-5.72	0.87531	D	0.245	0.27673	-1.0364	0.18419	T	0.038	0.16333	T	10	0.0035539567	0.00064	T	.	.	.	0.238	0.54217	0.451	0.51285	.	.	0.7230398605622168	0.72247	0.653833512896	0.58498	0.488958775997	0.37293	T	0.148974	0.48777	T	-0.341065	0.05315	T	-0.196748	0.54955	T	0.0431123634363572	0.04258	T	0.846915	0.52723	T	0.7075414	0.78472	0.6326163	0.78563	0.7075414	0.78473	0.6326163	0.78564	-10.181	0.74988	D	.	.	0.139	0.30450	B	.	.	4.254742	0.64612	24.7	0.99913626150655943	0.98238	0.95563	0.65220	D	AEFDBCI	0.773006	0.70715	D	0.508428002978768	0.67586	5.101513	0.434498221282481	0.63726	4.612409	0.999999999999999	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.591603	0.36755	0	.	.	5.39	5.39	0.77615	5.038000	0.63972	0.408000	0.18078	0.587000	0.30956	0.983000	0.35670	0.000000	0.08366	0.734000	0.35233	0.0:1.0:0.0:0.0	18.097	0.89422	713	0.56348	SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	rs149587418	Uncertain significance	0	0	0	0	0	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	1348.98	42	chr8	23316985	.	C	T	1348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=961;ExcessHet=0.0000;FS=0.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-1.501e+00;SOR=0.591	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1363,0,1411	20	0	1	0
chr8	26508737	26508737	C	G	exonic	PNMA2	.	nonsynonymous SNV	PNMA2:NM_007257:exon3:c.G19C:p.E7Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.536	P	0.198	B	.	.	0.951	N	0.925	L	2.84	T	-1.012	T	0.018	T	0.26	0.319	5.729	2.97	1.200	1.569	7.431	0.025	0.00351916886985	.	.	8.474e-06	0	0	0	0	1.518e-05	0	0	6.5e-06	1	154602	rs764346444	1.37e-06	1.368e-06	1.363e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.14645	T	0.149	0.32568	T	0.536	0.37827	P	0.198	0.36766	B	.	.	.	.	0.950579	0.26500	N	0	0.06538	N	2.84	0.10674	T	-0.1	0.08495	N	0.305	0.34444	-1.0124	0.26165	T	0.018	0.07565	T	9	0.1505807	0.28478	T	0.003519	0.08000	T	0.025	0.05312	0.358	0.36060	0.549036597592	0.54559	0.4686592876139212	0.46784	0.325923819181	0.34745	0.524691104889	0.42287	T	0.008096	0.07453	T	-0.244618	0.14766	T	-0.589153	0.13739	T	0.0905008172038572	0.11278	T	0.278972	0.04839	T	0.05264644	0.09850	0.038133074	0.03616	0.05264644	0.09850	0.038133074	0.03616	-4.683	0.33197	T	.	.	0.109	0.20780	B	.	.	2.427229	0.31222	18.68	0.95606595640851399	0.27352	0.62390	0.31767	D	AEFBI	0.100506	0.20207	N	-0.499180050629534	0.22106	1.178147	-0.466905009514624	0.23072	1.256309	6.31246737125765E-4	0.07505	0.638212	0.43195	0	0.59043	0.45803	0	0.687403	0.62504	0	0.668105	0.65232	0	.	.	3.84	2.97	0.33479	1.579000	0.36145	2.586000	0.33442	-0.176000	0.10722	0.897000	0.31356	0.991000	0.31484	0.052000	0.15357	0.0:0.8823:0.0:0.1177	7.431	0.26298	717	0.55835	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1837.98	33	chr8	26508737	.	C	G	1837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.419e+00;DP=936;ExcessHet=0.0000;FS=2.455;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=1.23;SOR=0.517	GT:AD:DP:GQ:PL	0/1:116,87:203:99:1852,0,2912	20	0	1	0
chr8	28527857	28527857	A	C	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.A1097C:p.Y366S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.998	D	0.000	D	1.000	D	1.01	L	-1.48	T	-0.003	T	0.531	D	0.963	3.136	16.48	5.11	1.919	9.339	13.703	0.733	0.112536711528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.229	0.25210	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-1.48	0.81150	T	-3.36	0.66549	D	0.892	0.89131	-0.0033	0.82188	T	0.531	0.82597	D	10	0.86584103	0.85828	D	0.112537	0.79072	D	0.733	0.90677	0.506	0.60078	0.910978530935	0.91008	0.82420749831174	0.82378	1.94513251559	0.93320	0.79725664854	0.81546	T	0.709163	0.91690	D	0.387863	0.89198	D	0.319362	0.89062	D	0.984737694263458	0.75947	D	0.861414	0.55526	D	0.50037515	0.67117	0.37308556	0.62503	0.50037515	0.67118	0.37308556	0.62503	-7.107	0.54811	T	.	.	0.467	0.63338	A	.;.	.;.	4.849540	0.79257	27.1	0.98881879482698976	0.47841	0.98876	0.88035	D	AEFGBI	0.912067	0.87221	D	0.628358452111575	0.74975	6.224987	0.647031843081357	0.78390	6.86662	0.999999906386	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.703	0.62101	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	2023.96	49	chr8	28527857	.	A	C	2023.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.128e+00;DP=3491;ExcessHet=6.1002;FS=238.297;InbreedingCoeff=-0.3837;MLEAC=11;MLEAF=0.306;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=3.10;SOR=12.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,48:187:99:.:.:149,0,2934	8	0	10	3
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.988	D	0.869	P	0.000	D	1.000	D	2.115	M	0.93	T	-0.886	T	0.159	T	0.906	4.104	21.1	0.193	0.076	0.581	10.624	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	935.59	59	chr8	28780872	.	G	C	935.59	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.284e+00;DP=1729;ExcessHet=4.7172;FS=229.301;InbreedingCoeff=-0.2916;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-6.400e-02;SOR=11.592	GT:AD:DP:GQ:PL	0/1:74,23:97:52:52,0,1564	12	0	9	0
chr8	37934471	37934471	T	-	exonic	GOT1L1	.	frameshift deletion	GOT1L1:NM_152413:exon9:c.1088delA:p.Y363Sfs*26,	.	.	434	1084	0	2	2	6	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00678914	0.0021	0.0002	8.639e-05	0.0268	0.0003	0.0001	0.0022	0.0007	0.0019534	302	154602	rs201462725	0.0009	0.0009	0.0009	0.0009	0.0284	0.0009	0.0008	0.0270	0.0264	8.969e-05	8.952e-05	0	0.0284	5.618e-05	0.0002	3.78e-05	0.0014	0.0007	0.0012	0.0012	0.0011	0.0014	0.0298	0.0011	0.0010	0.0260	0.0245	0.0002	0	0.0005	0	0.0298	0.0005	0	2.94e-05	0.0019	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1337.94	42	chr8	37934470	.	GT	G	1337.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.654;DP=805;ExcessHet=0.0000;FS=1.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-1.040e-01;SOR=0.929	GT:AD:DP:GQ:PL	0/1:50,41:91:99:1352,0,1740	20	0	1	0
chr8	39918109	39918109	C	A	exonic	IDO1	.	nonsynonymous SNV	IDO1:NM_002164:exon3:c.C205A:p.H69N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	B	0.033	B	0.921	N	1.000	N	0.955	L	1.04	T	-1.009	T	0.076	T	0.032	1.145	9.665	2.82	0.751	0.220	7.491	0.020	0.0116057051404	.	.	8.281e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs763006663	4.789e-06	4.788e-06	1.361e-06	8.252e-06	6.957e-05	1.99e-06	1.28e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	8.994e-07	0	6.957e-05	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.452	0.13131	T	0.614	0.19073	T	0.025	0.19245	B	0.033	0.22329	B	0.920817	0.08488	N	0.958528	1	0.08975	N	0.69	0.16971	N	1.04	0.40218	T	-1.47	0.47008	N	0.272	0.30800	-1.0091	0.27198	T	0.076	0.30460	T	9	0.13601133	0.25879	T	0.011606	0.29407	T	0.020	0.03691	0.448	0.50793	0.173771789658	0.16945	0.09552612691611206	0.09484	0.0482480031121	0.05275	0.27166184783	0.06359	T	0.022814	0.51171	T	-0.489342	0.00655	T	-0.738028	0.03975	T	0.0340651068316614	0.02648	T	0.555844	0.19458	T	0.26873446	0.49945	0.08870297	0.20700	0.26873446	0.49945	0.08870297	0.20699	-3.106	0.11365	T	.	.	0.065	0.03231	B	.;.;.;.	.;.;.;.	1.395071	0.18080	13.54	0.76137086444215341	0.11347	0.08456	0.14383	N	AEFDHCI	0.112841	0.22288	N	-0.963261578018857	0.09397	0.4445764	-0.936354518599568	0.11240	0.5714483	0.00790191170281683	0.11569	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.65	2.82	0.32061	0.268000	0.18336	2.105000	0.30626	-0.368000	0.05462	0.000000	0.06391	0.017000	0.20586	0.338000	0.25386	0.0975:0.4341:0.4684:0.0	7.491	0.26629	914	0.21048	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1557.98	33	chr8	39918109	.	C	A	1557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.225e+00;DP=833;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=0.772;SOR=0.842	GT:AD:DP:GQ:PL	0/1:52,61:113:99:1572,0,1432	20	0	1	0
chr8	60856055	60856055	G	A	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_017780:exon33:c.G7017A:p.M2339I,	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	.	0	1521	1	0	0	1	0.000328623	.	.	834970	not_provided|Inborn_genetic_diseases|CHARGE_syndrome	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.0	B	0.000	D	1.000	D	0.695	N	-1.35	T	-0.624	T	0.319	T	0.236	2.640	14.79	5.84	2.759	4.722	20.139	0.333	0.0747461457691	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247369056	5.482e-06	6.156e-06	5.452e-06	5.512e-06	0.0002	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.401e-06	0	1.168e-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	0.116	0.28395	T	0.418	0.14200	T	0.0	0.02946	B	0.0	0.01387	B	0.000178	0.48594	D	0.213026	0.997374	0.81001	D	-0.345	0.03330	N	-1.35	0.80035	T	-0.29	0.11728	N	0.657	0.66700	-0.6243	0.63810	T	0.319	0.68848	T	10	0.3399675	0.51073	T	0.074746	0.72116	D	0.333	0.65522	0.313	0.28774	0.62133168466	0.61826	0.11405143200442942	0.11333	0.174460457525	0.19643	0.511897265911	0.40488	T	0.070734	0.34033	T	-0.0420936	0.45639	T	-0.298241	0.44910	T	0.358110315614382	0.27335	T	0.833317	0.50212	T	0.095855005	0.22568	0.15444237	0.36247	0.095855005	0.22568	0.15444237	0.36246	-4.133	0.25775	T	0.060559434636289176	0.01671	0.304	0.53269	B	.	.	3.648711	0.51769	23.1	0.98171556834533114	0.38865	0.94866	0.62602	D	AEFDBI	0.491743	0.52867	N	-0.123947280951334	0.36352	2.100037	0.12146221785838	0.45648	2.824304	0.99992873925507	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.053000	0.57139	11.866000	0.98448	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.139	0.98055	810	0.42761	.	.	.	.	.	.	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	2027.98	35	chr8	60856055	.	G	A	2027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.726e+00;DP=882;ExcessHet=0.0000;FS=0.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=1.33;SOR=0.746	GT:AD:DP:GQ:PL	0/1:97,83:180:99:2042,0,2647	20	0	1	0
chr8	64615784	64615784	T	C	exonic	CYP7B1	.	nonsynonymous SNV	CYP7B1:NM_001324112:exon3:c.A757G:p.K253E	Bile acid synthesis defect, congenital, 3, Autosomal recessive;Spastic paraplegia 5A, autosomal recessive, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	899943	Inborn_genetic_diseases|Spastic_paraplegia|Hereditary_spastic_paraplegia_5A|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0010047,MedGen:C1849115,OMIM:270800,Orphanet:100986|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.009	B	0.820	N	1.000	N	1.055	L	-1.91	D	-0.813	T	0.386	T	0.1	-0.937	0.365	2.1	0.427	1.621	9.297	0.149	0.0476759423704	.	.	6.593e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs200328073	8.211e-05	8.209e-05	8.033e-05	8.39e-05	5.041e-05	7.003e-05	6.554e-05	1.663e-05	1.425e-05	0	0	0.0030	5.041e-05	0	0	2.429e-05	0.0002	0	9.199e-05	9.193e-05	5.139e-05	0.0001	2.94e-05	5.528e-05	4.365e-05	4.88e-06	1.83e-06	0	0	0	0.0035	0	0	0	2.94e-05	0	0	0.239	0.17761	T	0.901	0.03039	T	0.0	0.02946	B	0.009	0.14300	B	0.819901	0.09186	N	0.934500	1	0.08975	N	0.515	0.13537	N	-1.91	0.84701	D	-0.55	0.16799	N	0.161	0.16864	-0.8128	0.54380	T	0.386	0.74157	T	10	0.017489403	0.00374	T	0.047676	0.63029	D	0.149	0.39377	0.463	0.53242	0.831939011567	0.83034	0.4893566704260673	0.48855	0.109330788207	0.12331	0.279992610216	0.07491	T	0.15344	0.49429	T	-0.244017	0.14841	T	-0.419162	0.31172	T	0.0415310950387887	0.03969	T	0.244976	0.03588	T	0.083230615	0.19210	0.08240401	0.18804	0.083230615	0.19209	0.08240401	0.18803	-4.79	0.34475	T	0.3121808715376566	0.41009	0.127	0.27131	B	.	.	1.756880	0.22349	15.58	0.85361785411301894	0.15845	0.50206	0.28609	D	AEFI	0.166334	0.29291	N	-0.744160474871161	0.14792	0.739904	-0.675094733141806	0.17585	0.9356728	1.62836631306364E-4	0.05721	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	2.1	0.26226	1.681000	0.37234	2.224000	0.31475	0.665000	0.62972	0.817000	0.29947	0.994000	0.32194	0.642000	0.32476	0.0:0.0706:0.2909:0.6385	9.297	0.36983	770	0.49152	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	7876.98	39	chr8	64615784	.	T	C	7876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.432e+00;DP=1385;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-1.080e+00;SOR=0.679	GT:AD:DP:GQ:PL	0/1:314,324:638:99:7891,0,7744	20	0	1	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.994	D	0.000	D	0.999	D	1.1	L	.	.	-0.632	T	0.303	T	0.823	4.580	24.9	5.98	2.835	6.699	18.639	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1316	133.13	53	chr8	66493691	.	G	C	133.13	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.170e+00;DP=1181;ExcessHet=1.1607;FS=144.686;InbreedingCoeff=-0.1900;MLEAC=5;MLEAF=0.132;MQ=59.63;MQRankSum=0.00;QD=0.42;ReadPosRankSum=1.07;SOR=10.685	GT:AD:DP:GQ:PL	0/1:51,17:68:13:13,0,865	14	0	5	2
chr8	67267197	67267197	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1706C:p.Y569S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.805	H	-0.78	T	0.687	D	0.706	D	0.982	4.416	23.4	5.64	2.151	7.963	15.858	0.899	0.237962970762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.72	0.94773	H	-0.78	0.73631	T	-8.35	0.97055	D	0.942	0.94904	0.687	0.93008	D	0.706	0.89885	D	10	0.9347031	0.92803	D	0.237963	0.88567	D	0.899	0.97173	0.765	0.89293	0.928413877143	0.92768	0.9410339865550086	0.94084	2.66344963391	0.98472	0.923793792725	0.98598	D	0.579556	0.86210	D	0.426857	0.91374	D	0.375374	0.91268	D	0.999809205532074	0.99090	D	0.999009	0.99481	D	0.95048153	0.96314	0.9252946	0.96768	0.95048153	0.96314	0.9252946	0.96769	-14.428	0.94364	D	.	.	0.997	0.96728	P	.	.	4.199179	0.63353	24.6	0.9915802266271444	0.54015	0.99263	0.93634	D	AEFBIJ	0.859364	0.77703	D	0.987119455993339	0.95336	13.52262	0.906983321677204	0.95869	14.05404	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	48.98	39	chr8	67267197	.	T	G	48.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.192e+00;DP=1079;ExcessHet=0.0000;FS=62.817;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.48;ReadPosRankSum=3.01;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,16:102:63:0|1:67267197_T_G:63,0,2939:67267197	20	0	1	0
chr8	67267206	67267206	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1697C:p.Y566S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.58	H	-0.14	T	0.359	D	0.556	D	0.978	4.406	23.3	5.64	2.151	7.963	15.858	0.827	0.185111105236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.615	0.93875	H	-0.14	0.65006	T	-8.21	0.96839	D	0.903	0.90363	0.359	0.88479	D	0.556	0.83808	D	10	0.9076985	0.90135	D	0.185111	0.85792	D	0.827	0.94503	0.744	0.87570	0.87037615458	0.86911	0.9092638382302259	0.90900	2.66344963391	0.98472	0.932812094688	0.99139	D	0.543141	0.84394	D	0.399337	0.89876	D	0.335844	0.89748	D	0.999809205532074	0.99090	D	0.994967	0.98297	D	0.9542225	0.96695	0.9234184	0.96638	0.9542225	0.96696	0.9234184	0.96638	-14.814	0.95401	D	.	.	0.994	0.95244	P	.	.	4.277610	0.65129	24.8	0.99153331616312945	0.53875	0.99263	0.93634	D	AEBI	0.859364	0.77703	D	0.963041333664288	0.94489	12.79763	0.891701606307143	0.95200	13.402	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1818	460.15	39	chr8	67267206	.	T	G	460.15	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-2.883e+00;DP=1743;ExcessHet=0.6776;FS=182.454;InbreedingCoeff=-0.2727;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=2.03;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,26:98:99:0|1:67267197_T_G:294,0,1140:67267197	7	0	4	10
chr8	67288041	67288041	T	C	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon7:c.A941G:p.Y314C,	.	.	479	1038	3	2	0	7	0.00336054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.0	B	0.0	B	0.246	N	1.000	D	1.1	L	2.13	T	-1.092	T	0.002	T	0.29	1.688	11.60	4.2	0.946	3.307	11.676	0.077	.	0.0007	0.0241613	0.0123	0.0007	0.0376	0.1120	0.0003	0.0003	0.0078	0.0031	0.0114035	1763	154602	rs76811394	0.0042	0.0043	0.0044	0.0040	0.1022	0.0041	0.0041	0.0996	0.0985	0.0005	0.0277	3.889e-05	0.1022	0.0011	0.0009	0.0002	0.0061	0.0032	0.0055	0.0056	0.0049	0.0063	0.1019	0.0052	0.0051	0.0947	0.0919	0.0010	0	0.0131	0	0.1019	0.0011	0	0.0004	0.0061	0.0052	0.178	0.22138	T	0.183	0.29153	T	0.0	0.02946	B	0.0	0.01387	B	0.246133	0.15607	N	0.639663	0.711467	0.33523	D	0.895	0.22405	L	2.13	0.19588	T	0.09	0.05917	N	0.105	0.08925	-1.0922	0.05175	T	0.002	0.00497	T	10	0.0021713376	0.00031	T	.	.	.	0.077	0.22490	.	.	.	.	0.1972633484220722	0.19643	0.445717174749	0.44459	0.608375430107	0.54086	T	0.094523	0.39434	T	-0.559103	0.00257	T	-0.489036	0.23493	T	0.00835954930862052	0.00101	T	0.737926	0.35508	T	0.06564336	0.14048	0.051582094	0.08329	0.06564336	0.14048	0.051582094	0.08328	-2.36	0.04894	T	.	.	0.058	0.00614	B	.	.	2.612709	0.33937	19.49	0.97194579099039913	0.32779	0.92158	0.55074	D	AEBI	0.431429	0.49372	N	-0.249985751337175	0.31103	1.740783	-0.0980935924300736	0.35470	2.052438	0.809555116605096	0.24331	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.39	4.2	0.48814	3.368000	0.52084	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.0707:0.0:0.9293	11.676	0.50692	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	0.02381	1348.98	41	chr8	67288041	.	T	C	1348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=-6.890e-01;SOR=0.704	GT:AD:DP:GQ:PL	0/1:44,53:97:99:1363,0,1038	20	0	1	0
chr8	76707587	76707587	C	A	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon3:c.C2632A:p.Q878K,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.954	P	0.954	D	.	.	1.000	D	1.445	L	1.03	T	-0.821	T	0.214	T	0.406	2.037	12.77	5.18	2.705	7.651	18.884	0.205	0.00998791565084	.	.	6.619e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs779768832	1.729e-05	1.915e-05	1.097e-05	2.372e-05	0.0003	1.187e-05	1.003e-05	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	6.58e-06	6.568e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.035	0.43708	D	0.082	0.41573	T	.	.	.	.	.	.	.	.	.	.	0.999669	0.81001	D	.	.	.	1.03	0.40469	T	-2.65	0.56787	D	0.881	0.87917	-0.8208	0.53883	T	0.214	0.57534	T	9	0.30438387	0.47963	T	0.009988	0.25990	T	0.205	0.49236	0.464	0.53404	0.239312915715	0.23560	0.4167347759079498	0.41589	0.241060446744	0.26636	0.723388135433	0.70540	T	.	.	.	-0.269678	0.11792	T	-0.327591	0.41736	T	0.262780559436322	0.23436	T	0.824917	0.49436	T	.	.	.	.	.	.	.	.	-3.947	0.23008	T	.	.	0.336	0.55624	B	.;.	.;.	4.212798	0.63657	24.6	0.96328059462937421	0.29440	0.99113	0.91417	D	AEFDBHI	0.939784	0.94084	D	0.703204229005219	0.79844	7.164039	0.716719877899332	0.83649	8.077277	0.999999999814978	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	5.18	5.18	0.71140	7.905000	0.86479	7.736000	0.67890	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.884	0.92339	832	0.38914	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	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	1403.98	33	chr8	76707587	.	C	A	1403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=801;ExcessHet=0.0000;FS=8.310;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.12;ReadPosRankSum=0.749;SOR=0.214	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,37:82:99:0|1:76707586_T_A:1418,0,1771:76707586	20	0	1	0
chr8	90645732	90645732	-	GCTGCCGCCGCC	exonic	TMEM64	.	nonframeshift insertion	TMEM64:NM_001008495:exon1:c.173_174insGGCGGCGGCAGC:p.A61_S62insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294690554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.354e-05	1.319e-05	2.639e-05	0	6.713e-05	2.25e-06	8.4e-07	.	.	2.445e-05	0	6.713e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	97.29	10	chr8	90645732	.	T	TGCTGCCGCCGCC	97.29	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.921;DP=182;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0453;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-1.350e-01;SOR=1.270	GT:AD:DP:GQ:PL	0/1:5,3:8:99:111,0,201	20	0	1	0
chr8	98021213	98021213	G	A	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon12:c.G1705A:p.V569I	.	.	433	1047	41	1	0	43	0.0201217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.002	B	0.004	B	0.304	N	0.519	D	1.01	L	1.57	T	0.039	D	0.686	D	0.21	2.177	13.24	1.44	-0.022	-0.184	8.639	0.061	.	0.0083	0.00479233	0.0098	0.0012	0.0027	0.0001	0.0071	0.0121	0.0078	0.0168	0.0093336	1443	154602	rs61729731	0.0094	0.0094	0.0089	0.0099	0.0187	0.0093	0.0092	0.0180	0.0176	0.0016	0.0022	0.0129	0.0002	0.0081	0.0161	0.0095	0.0084	0.0187	0.0075	0.0075	0.0075	0.0074	0.0162	0.0071	0.0070	0.0133	0.0122	0.0012	0.0318	0.0024	0.0153	0.0012	0.0069	0.0068	0.0117	0.0066	0.0162	0.093	0.31532	T	0.1	0.48855	T	0.001	0.07471	B	0.003	0.08700	B	0.304241	0.14544	N	0.631691	0.519229	0.31883	D	0.205	0.09354	N	1.57	0.97317	T	-0.13	0.08971	N	0.082	0.10056	0.039	0.83023	D	0.686	0.89169	D	10	0.008711696	0.00197	T	.	.	.	0.061	0.17616	.	.	0.839547833385	0.83801	0.48597135079498666	0.48517	0.156403761486	0.17651	0.253704488277	0.04168	T	0.070677	0.34018	T	-0.301915	0.08479	T	-0.19152	0.55448	T	0.0017796205268481	0.00018	T	0.80472	0.47619	T	0.043093473	0.06656	0.066421196	0.13602	0.043093473	0.06656	0.066421196	0.13602	-3.801	0.28720	T	.	.	0.068	0.02797	B	.;.;.;.;.	.;.;.;.;.	0.994950	0.13731	10.27	0.97130447718080226	0.32495	0.32416	0.24580	N	AEFDGBI	0.396125	0.47272	N	-0.714072352227259	0.15626	0.7891043	-0.620722908807034	0.18961	1.015249	0.999960451823212	0.48965	0.706298	0.61202	0	0.491513	0.07743	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.7	1.44	0.21647	-0.450000	0.06877	-0.053000	0.12521	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.964000	0.52637	0.3342:0.0:0.6658:0.0	8.639	0.33130	818	0.41518	.;EGF-like calcium-binding domain|EGF-like domain;.;.;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1343.98	33	chr8	98021213	.	G	A	1343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.500e-02;DP=830;ExcessHet=0.0000;FS=2.312;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.082;SOR=0.929	GT:AD:DP:GQ:PL	0/1:67,58:125:99:1358,0,1600	20	0	1	0
chr8	102279179	102279179	A	G	exonic	UBR5	.	nonsynonymous SNV	UBR5:NM_001282873:exon43:c.T6031C:p.S2011P	.	.	435	1083	4	0	0	4	0.00184332	.	.	3195321	UBR5-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.0	B	0.000	D	1.000	D	-0.405	N	0.77	T	-1.076	T	0.038	T	0.129	1.959	12.51	3.03	1.093	0.796	7.753	0.089	0.00567735812683	0.0033	0.00139776	0.0030	0.0005	0.0003	0	0.0015	0.0048	0.0011	0.0017	0.0032147	497	154602	rs35794419	0.0043	0.0043	0.0044	0.0043	0.0052	0.0043	0.0042	0.0051	0.0050	0.0007	0.0007	3.826e-05	0	0.0019	0.0010	0.0052	0.0037	0.0026	0.0032	0.0032	0.0034	0.0029	0.0057	0.0029	0.0028	0.0053	0.0051	0.0011	0	0.0008	0	0	0.0015	0.0034	0.0057	0.0019	0.0027	0.144	0.25255	T	0.261	0.23029	T	0.0	0.02946	B	0.0	0.01387	B	0.000208	0.47681	D	0.184300	0.872854	0.35597	D	0.345	0.11182	N	0.77	0.49642	T	-1.04	0.27259	N	0.179	0.19325	-1.0759	0.08164	T	0.038	0.16591	T	10	0.0045380294	0.00094	T	0.005677	0.14712	T	0.089	0.25827	.	.	0.0675242888579	0.06100	0.2828771811287362	0.28200	0.862312818367	0.69017	0.466619044542	0.34217	T	0.162631	0.50738	T	-0.558489	0.00259	T	-0.565612	0.15854	T	0.0372322052717209	0.03197	T	0.871813	0.57812	D	0.09069317	0.21230	0.2186153	0.46570	0.09069317	0.21230	0.2186153	0.46569	-4.344	0.28789	T	.	.	0.067	0.02548	B	.;.;.	.;.;.	2.895210	0.38354	20.7	0.99115043232547562	0.52828	0.76011	0.37249	D	AEFBI	0.108417	0.21569	N	-0.438600136204214	0.24129	1.300646	-0.223044676450541	0.30712	1.731601	0.859853993737702	0.25204	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	3.03	0.34070	0.790000	0.26562	3.716000	0.39571	0.756000	0.94297	0.892000	0.31242	1.000000	0.68203	0.999000	0.91618	0.572:0.1:0.0:0.328	7.753	0.28072	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	0	0	0	0	0.02381	1120.98	33	chr8	102279179	.	A	G	1120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.267e+00;DP=765;ExcessHet=0.0000;FS=2.275;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.01;ReadPosRankSum=0.215;SOR=1.071	GT:AD:DP:GQ:PL	0/1:29,41:70:99:1135,0,738	20	0	1	0
chr8	104447451	104447451	T	-	exonic	DPYS	.	frameshift deletion	DPYS:NM_001385:exon3:c.476delA:p.K159Rfs*12,	Dihydropyrimidinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1056.94	34	chr8	104447450	.	CT	C	1056.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=789;ExcessHet=0.0000;FS=0.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-3.980e-01;SOR=0.636	GT:AD:DP:GQ:PL	0/1:45,35:80:99:1071,0,1427	20	0	1	0
chr8	109481526	109481526	C	A	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon56:c.C9421A:p.L3141I,	.	.	435	1067	19	1	0	21	0.00974478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.796	P	0.673	P	0.001	N	0.965	N	1.465	L	-2.45	D	-0.187	T	0.639	D	0.216	2.719	15.05	3.84	0.658	0.533	10.079	0.336	.	0.0005	0.00119808	0.0020	0	0.0002	0	0.0003	0.0013	0.0125	0.0072	0.001022	158	154602	rs200961934	0.0006	0.0007	0.0005	0.0008	0.0063	0.0006	0.0006	0.0059	0.0057	3.027e-05	0.0003	0.0048	2.555e-05	5.71e-05	0.0023	0.0002	0.0012	0.0063	0.0005	0.0005	0.0004	0.0006	0.0073	0.0004	0.0004	0.0054	0.0047	4.819e-05	0	0.0002	0.0069	0	0	0	0.0002	0	0.0073	0.055	0.38407	T	0.015	0.61642	D	0.796	0.44790	P	0.673	0.53214	P	0.001034	0.40562	N	0.163065	0.96501	0.25956	N	2.305	0.65957	M	-2.45	0.88847	D	-1.09	0.30140	N	0.398	0.43899	-0.1867	0.78011	T	0.639	0.87376	D	10	0.010953903	0.00242	T	.	.	.	0.336	0.65816	.	.	0.37953744168	0.37561	0.357325073503585	0.35646	0.0425447266547	0.04588	0.351900696754	0.18201	T	0.09838	0.40215	T	-0.350655	0.04686	T	-0.273022	0.47512	T	0.0827592919721143	0.10337	T	0.844016	0.52334	T	0.092409335	0.21679	0.12415299	0.29929	0.092409335	0.21679	0.12415299	0.29928	-4.579	0.31907	T	.	.	0.111	0.31355	B	.;.	.;.	3.288631	0.45089	22.1	0.98521739355580595	0.42471	0.77795	0.38293	D	AEFI	0.298106	0.40751	N	0.170842743986272	0.49802	3.176685	0.199191076164343	0.49802	3.179231	0.0104622321700928	0.12029	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.77	3.84	0.43422	0.576000	0.23446	3.321000	0.37545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8208:0.0:0.1792	10.079	0.41552	604	0.67577	G8 domain|G8 domain|G8 domain;G8 domain|G8 domain|G8 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	1853.11	41	chr8	109481526	.	C	A	1853.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.098e+00;DP=899;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=0.414;SOR=0.728	GT:AD:DP:GQ:PL	0/1:19,39:58:99:956,0,415	19	0	2	0
chr8	120490552	120490552	G	A	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon13:c.G1429A:p.A477T,	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.513	P	0.147	B	0.000	D	0.775	D	2.215	M	.	.	-0.458	T	0.205	T	0.351	3.540	18.06	5.0	1.486	4.952	14.980	0.140	0.00764654572281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.902e-07	1.368e-06	1.373e-06	0	9.033e-07	0	0	.	.	0	0	0	0	0	0	9.033e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.048	0.48594	D	0.513	0.37366	P	0.147	0.34014	B	0.000407	0.44736	D	0.228496	0.774785	0.34194	D	2.71	0.79292	M	.	.	.	-2.32	0.51478	N	0.322	0.36254	-0.4582	0.70128	T	0.205	0.56362	T	9	0.4197968	0.56786	T	0.007647	0.20299	T	0.140	0.37593	0.398	0.42590	0.536051623013	0.53255	0.40687079048739905	0.40603	0.151432664417	0.17094	0.335589379072	0.15777	T	0.540921	0.84280	D	-3.37926e-05	0.51649	T	-0.237825	0.51011	T	0.960853636264801	0.65919	D	0.632737	0.24712	T	0.11797933	0.27806	0.16329956	0.37888	0.11797933	0.27805	0.16329956	0.37887	-3.41	0.15191	T	.	.	0.123	0.25817	B	.	.	4.250190	0.64514	24.7	0.99778167311720611	0.86519	0.95210	0.63845	D	AEFDBI	0.434430	0.49548	N	0.074078982244545	0.45254	2.785179	0.153435372050576	0.47324	2.964373	0.994836958884407	0.33823	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.87	5.0	0.66209	5.051000	0.64074	7.555000	0.60355	-0.185000	0.09859	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.0684:0.0:0.9316:0.0	14.980	0.70957	703	0.57489	MDM2-binding protein, 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	0	0	0	0	0	0	0	0.02381	1023.98	34	chr8	120490552	.	G	A	1023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.567e+00;DP=788;ExcessHet=0.0000;FS=2.933;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=1.55;SOR=0.412	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1038,0,1031	20	0	1	0
chr8	120811635	120811635	C	T	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon1:c.G209A:p.R70K,	.	.	411	1108	3	0	0	3	0.00135196	.	.	2369109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.91	T	0.065	B	0.048	B	0.001	N	0.835	N	0	N	1.18	T	-1.088	T	0.046	T	0.25	1.374	10.52	5.06	2.330	1.808	16.201	0.053	0.068224968246	.	0.000798722	0.0005	0.0002	0.0003	0	0.0007	0.0006	0	0.0010	0.0003687	57	154602	rs145732083	0.0006	0.0006	0.0005	0.0007	0.0011	0.0006	0.0006	0.0009	0.0009	0.0001	9.62e-05	0	0	0.0002	0.0007	0.0006	0.0006	0.0011	0.0004	0.0004	0.0005	0.0003	0.0008	0.0004	0.0003	0.0007	0.0006	7.218e-05	0	6.535e-05	0	0	0.0003	0	0.0008	0	0.0008	0.735	0.03753	T	0.928	0.02795	T	0.001	0.07471	B	0.001	0.04355	B	0.001196	0.39899	N	0.160194	0.834722	0.28712	N	0.895	0.22405	L	1.18	0.37746	T	-0.42	0.14193	N	0.277	0.31365	-1.0884	0.05804	T	0.046	0.19720	T	10	0.017380834	0.00371	T	0.068225	0.70390	D	0.053	0.14996	.	.	0.252829632966	0.24901	0.5088952206881259	0.50811	.	.	0.880455970764	0.94022	D	0.209514	0.56974	T	-0.477888	0.00761	T	-0.50967	0.21350	T	0.0124958123732138	0.00206	T	0.50295	0.15803	T	0.21631241	0.44086	0.13308613	0.31921	0.21631241	0.44086	0.13308613	0.31920	-3.528	0.16826	T	.	.	0.117	0.26325	B	.;.	.;.	2.288211	0.29267	18.07	0.96957819408484647	0.31767	0.69522	0.34221	D	AEFDBHCIJ	0.180434	0.30774	N	-0.430022482394311	0.24422	1.318578	-0.201508365737499	0.31482	1.782108	0.999999978329154	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.391439	0.06340	0	0.554799	0.18163	0	.	.	5.06	5.06	0.67838	1.302000	0.33063	3.609000	0.39247	0.518000	0.23583	0.827000	0.30089	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	16.201	0.81895	430	0.80826	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1628.98	34	chr8	120811635	.	C	T	1628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.398;SOR=0.758	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1643,0,1254	20	0	1	0
chr8	127738855	127738855	C	G	exonic	MYC	.	nonsynonymous SNV	MYC:NM_001354870:exon2:c.C635G:p.P212R	Burkitt lymphoma, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.725	M	1.01	T	-0.327	T	0.308	T	0.876	3.152	16.54	4.88	2.401	5.513	17.368	0.615	0.0762060227159	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221801220	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.567e-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	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.052287	0.999998	0.58761	D	3.275	0.90144	M	1.01	0.41058	T	-6.79	0.92863	D	0.778	0.77507	-0.3274	0.74209	T	0.308	0.67831	T	10	0.9239751	0.91747	D	0.076206	0.72474	D	0.615	0.84986	0.809	0.92581	0.621560015809	0.61849	0.6528075985703793	0.65216	.	.	0.714992403984	0.69316	T	0.544987	0.84488	D	0.260968	0.79618	D	0.137086	0.79355	D	0.996220886707306	0.88912	D	0.935106	0.75644	D	0.5903562	0.72170	0.453574	0.68222	0.5903562	0.72171	0.453574	0.68222	-4.075	0.24920	T	0.3178454936435209	0.41592	0.642	0.70601	P	.;.;.;.;.	.;.;.;.;.	4.830575	0.78774	27.0	0.99767021410782575	0.85583	0.99198	0.92678	D	AEFDGBHCI	.	.	.	0.679497316968253	0.78290	6.841638	0.581149936540404	0.73589	5.995257	0.999999999997495	0.74766	0.72623	0.87236	0	0.672317	0.65289	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	4.88	4.88	0.63131	5.768000	0.68510	7.475000	0.59195	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	0.0:1.0:0.0:0.0	17.368	0.87258	962	0.08456	Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	999.98	33	chr8	127738855	.	C	G	999.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.628;DP=844;ExcessHet=0.0000;FS=11.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=-1.050e-01;SOR=1.750	GT:AD:DP:GQ:PL	0/1:65,42:107:99:1014,0,1660	20	0	1	0
chr8	139618956	139618956	T	C	exonic	KCNK9	.	nonsynonymous SNV	KCNK9:NM_001282534:exon2:c.A427G:p.I143V,	Birk-Barel mental retardation dysmorphism syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.001	N	0.996	D	0.205	N	1.95	T	-1.001	T	0.020	T	0.131	-0.820	0.623	2.2	0.455	3.827	5.394	0.036	0.00285896538679	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321749969	8.209e-06	8.209e-06	4.084e-06	1.238e-05	0.0002	4.38e-06	3.46e-06	5.395e-05	4.042e-05	0	0	0	2.519e-05	0	0.0002	0	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.001226	0.39743	N	0.249479	0.99618	0.43063	D	0.74	0.18910	N	1.95	0.22474	T	-0.04	0.07590	N	0.154	0.16725	-1.0014	0.29516	T	0.020	0.08266	T	10	0.095469385	0.17053	T	0.002859	0.06015	T	0.036	0.09122	0.398	0.42590	0.236278675362	0.23226	0.8510158740642203	0.85063	0.917897762411	0.71318	0.697021842003	0.66714	T	0.162616	0.50735	T	-0.435548	0.01374	T	-0.626742	0.10663	T	0.0165644796656419	0.00418	T	0.734227	0.35027	T	0.021495776	0.00756	0.027372578	0.00886	0.021495776	0.00755	0.027372578	0.00885	-3.122	0.11551	T	.	.	0.074	0.10931	B	.;.;.;.;.	.;.;.;.;.	1.580883	0.20228	14.65	0.39398626038232476	0.02716	0.92993	0.57055	D	AEFDGBI	0.427296	0.49130	N	-0.697769689232345	0.16084	0.8164225	-0.472218592968051	0.22923	1.247482	0.00435406639518044	0.10513	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.85	2.2	0.26966	3.810000	0.55318	0.956000	0.22957	-0.147000	0.12262	1.000000	0.71638	0.780000	0.26771	0.963000	0.52385	0.0:0.1449:0.2816:0.5735	5.394	0.15560	899	0.25060	.;.;.;.;.	.	.	.	.	.	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	2527.98	37	chr8	139618956	.	T	C	2527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.135e+00;DP=989;ExcessHet=0.0000;FS=3.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-4.210e-01;SOR=0.910	GT:AD:DP:GQ:PL	0/1:106,109:215:99:2542,0,2819	20	0	1	0
chr8	143429787	143429789	TGG	-	exonic	MAFA	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.618_620del:p.H208del,	.	.	264	254	1	13	990	1017	0.0504673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	51136.5	54	chr8	143429783	.	ATGGTGG	ATGG,A	51136.5	.	AC=38,4;AF=0.905,0.095;AN=42;BaseQRankSum=1.21;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=38,4;MLEAF=0.905,0.095;MQ=60.00;MQRankSum=0.00;QD=34.47;ReadPosRankSum=0.693;SOR=0.738	GT:AD:DP:GQ:PL	1/2:0,51,5:56:54:2339,208,54,2131,0,2154	0	17	0	0
chr8	143538164	143538164	C	G	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon2:c.G1203C:p.K401N,	.	.	393	1085	41	3	0	47	0.0211998	.	.	1671780	not_provided|Neutropenia|Lymphopenia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697|Human_Phenotype_Ontology:HP:0001888,MONDO:MONDO:0003783,MedGen:C0024312	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.651	P	0.198	B	0.147	N	1.000	N	1.95	M	3.81	T	-1.026	T	0.012	T	0.054	1.730	11.75	2.58	1.005	0.539	9.487	0.070	.	0.0040	0.00239617	0.0044	0.0010	0.0035	0	0.0006	0.0063	0.0078	0.0028	0.0043984	680	154602	rs145312531	0.0050	0.0050	0.0050	0.0050	0.0161	0.0049	0.0049	0.0135	0.0125	0.0008	0.0032	0.0108	2.519e-05	0.0005	0.0161	0.0055	0.0049	0.0032	0.0042	0.0042	0.0045	0.0039	0.0061	0.0040	0.0039	0.0057	0.0055	0.0008	0.0912	0.0029	0.0110	0	0.0003	0.0102	0.0061	0.0080	0.0015	0.001	0.78490	D	0.215	0.26306	T	0.651	0.40707	P	0.198	0.36766	B	0.146865	0.18099	N	0.533225	1	0.08975	N	1.975	0.53506	M	3.81	0.03754	T	-1.55	0.37566	N	0.261	0.29544	-1.0261	0.21723	T	0.012	0.04510	T	10	0.0025629401	0.00039	T	.	.	.	0.070	0.20419	0.132	0.03662	0.043077524339	0.03247	0.19101010069573193	0.19019	.	.	0.350995391607	0.18068	T	0.029869	0.21306	T	-0.632085	0.00093	T	-0.676997	0.07168	T	0.0164832262250993	0.00413	T	0.735226	0.35154	T	0.13179666	0.30709	0.11634667	0.28087	0.13179666	0.30709	0.11634667	0.28087	-5.937	0.45749	T	.	.	0.379	0.58369	A	.	.	2.450788	0.31553	18.78	0.99737924929366029	0.83264	0.37660	0.25812	N	AEFGBCI	0.097974	0.19752	N	-0.183606738135059	0.33816	1.922929	-0.223506323144549	0.30694	1.730533	0.999950641709415	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.76	2.58	0.30011	0.536000	0.22838	.	.	0.599000	0.40250	0.002000	0.15269	0.999000	0.35428	0.798000	0.37648	0.0:0.7414:0.0:0.2586	9.487	0.38102	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	611.98	40	chr8	143538164	.	C	G	611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.430e-01;DP=869;ExcessHet=0.0000;FS=1.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=-6.390e-01;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,28:57:99:0|1:143538164_C_G:626,0,1111:143538164	20	0	1	0
chr8	143721618	143721618	G	A	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon12:c.G1274A:p.G425E,	.	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.421	B	0.08	B	0.211	U	1.000	N	0.805	L	-0.72	T	-1.009	T	0.061	T	0.237	1.140	9.645	1.16	0.416	-0.154	4.358	0.059	.	.	0.00579073	0.0029	0	0.0009	0.0359	0.0002	0.0002	0.0011	0.0009	0.002652	410	154602	rs35834318	0.0013	0.0013	0.0013	0.0013	0.0424	0.0013	0.0013	0.0407	0.0401	2.991e-05	0.0005	0	0.0424	9.387e-05	0	0.0001	0.0010	0.0006	0.0012	0.0012	0.0012	0.0012	0.0300	0.0011	0.0010	0.0262	0.0247	4.81e-05	0	0.0003	0	0.0300	0	0	0.0002	0.0005	0.0010	0.008	0.58626	D	0.199	0.27679	T	0.421	0.35387	B	0.08	0.28873	B	0.211321	0.16358	U	0.526148	1	0.08975	N	2.39	0.68882	M	-0.72	0.72994	T	-1.59	0.38345	N	0.258	0.29197	-1.0093	0.27136	T	0.061	0.25563	T	10	0.0038855672	0.00074	T	.	.	.	0.059	0.16972	.	.	0.763320079665	0.76116	0.3355714248060343	0.33470	0.117895126679	0.13276	0.464598178864	0.33940	T	0.047461	0.27729	T	-0.432221	0.01437	T	-0.368565	0.37056	T	0.0313423332943114	0.02201	T	.	.	.	0.07885048	0.17980	0.09070122	0.21285	0.07885048	0.17979	0.09070122	0.21284	-3.331	0.14139	T	.	.	0.090	0.12702	B	.	.	0.953288	0.13297	9.797	0.87106021395945676	0.16992	0.02893	0.07682	N	AEFBCI	0.041119	0.06210	N	-0.885150955377113	0.11195	0.5389489	-1.00606868652647	0.09651	0.4814028	0.999673207516022	0.41644	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	2.06	1.16	0.19936	-0.114000	0.10729	.	.	0.491000	0.22372	0.000000	0.06391	0.082000	0.22400	0.006000	0.07323	0.205:0.0:0.795:0.0	4.358	0.10623	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1818.98	35	chr8	143721618	.	G	A	1818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=986;ExcessHet=0.0000;FS=1.447;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.03;ReadPosRankSum=0.566;SOR=0.568	GT:AD:DP:GQ:PL	0/1:57,64:121:99:1833,0,1441	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	0/1:93,73:166:99:1713,0,2225	19	0	2	0
chr8	143925343	143925343	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G4544A:p.R1515H	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	.	.	.	.	.	.	.	.	.	.	370134	not_specified|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_with_nail_dystrophy	MedGen:CN169374|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|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.884	P	0.018	U	1.000	N	1.445	L	1.9	T	-0.323	T	0.505	D	0.408	0.738	7.918	4.49	2.046	1.412	16.787	0.159	0.653667156034	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1057520714	1.145e-05	1.231e-05	1.274e-05	1.012e-05	2.62e-05	6.78e-06	5.48e-06	7.47e-06	5.84e-06	0	2.62e-05	0	0	2.889e-05	0	1.287e-05	0	0	4.602e-05	4.595e-05	5.144e-05	4.034e-05	0.0002	2.11e-05	1.527e-05	1.973e-05	1.125e-05	0	0	6.538e-05	0	0.0002	0	0	5.886e-05	0	0.0002	0.024	0.50132	D	0.019	0.60337	D	0.999	0.77913	D	0.884	0.62758	P	0.017811	0.27632	U	0.225179	1	0.08975	N	1.9	0.50570	L	1.9	0.77336	T	-2.0	0.47683	N	0.538	0.60325	-0.3225	0.74352	T	0.505	0.81368	D	10	0.60756004	0.67261	D	0.653667	0.97075	D	0.159	0.41286	0.184	0.09259	0.698281041325	0.69567	0.35768449750307735	0.35682	.	.	0.683434486389	0.64763	T	0.287355	0.66015	T	0.0080933	0.52764	T	-0.226151	0.52142	T	0.192845448851585	0.20010	T	0.956971	0.83666	D	0.0619323	0.12881	0.056792367	0.10211	0.08544344	0.19819	0.100439504	0.24015	-6.842	0.53425	T	0.2503662939533261	0.33887	0.169	0.37083	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.018821	0.59339	24.1	0.96702081243007532	0.30777	0.13305	0.17780	N	AEFDBCI	0.080872	0.16358	N	0.0120097754845968	0.42400	2.554041	-0.132444239555937	0.34090	1.95715	0.999999967681023	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	2.180000	0.42167	.	.	0.589000	0.31548	0.849000	0.30428	0.999000	0.35428	0.006000	0.07323	0.0:1.0:0.0:0.0	16.787	0.85439	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	641.98	37	chr8	143925343	.	C	T	641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.459;DP=919;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.660;SOR=0.588	GT:AD:DP:GQ:PL	0/1:27,25:52:99:656,0,691	20	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	10566.34	45	chr9	117371	.	C	G,*	10566.34	.	AC=21,5;AF=0.500,0.119;AN=42;BaseQRankSum=1.69;DP=683;ExcessHet=1.5101;FS=0.547;InbreedingCoeff=-0.0096;MLEAC=21,5;MLEAF=0.500,0.119;MQ=45.38;MQRankSum=-4.449e+00;QD=18.70;ReadPosRankSum=-5.950e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,9,0:21:99:.:.:290,0,317,326,344,670	3	5	9	0
chr9	117475	117475	G	C	exonic	FOXD4	.	nonsynonymous SNV	FOXD4:NM_207305:exon1:c.C645G:p.F215L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.924	P	0.827	P	.	.	1.000	N	1.04	L	-3.51	D	0.067	D	0.772	D	0.07	3.609	18.37	2.08	1.155	-1.101	9.342	0.286	0.16587999655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.023	0.48186	D	0.812	0.03921	T	0.924	0.51285	P	0.827	0.59428	P	.	.	.	.	0.999896	0.19781	N	1.585	0.39878	L	-3.51	0.94693	D	-2.43	0.53258	N	0.038	0.01203	0.067	0.83568	D	0.772	0.92259	D	9	0.20349959	0.36508	T	0.16588	0.84463	D	0.286	0.60456	0.327	0.31034	0.716668160974	0.71417	0.16385004026512767	0.16305	.	.	0.789456069469	0.80359	T	0.002228	0.01623	T	-0.0542035	0.43806	T	-0.315636	0.43052	T	0.662082604887371	0.38987	D	0.39616	0.09972	T	0.15671062	0.35351	0.23206285	0.48356	0.15671062	0.35350	0.23206285	0.48355	-1.848	0.02656	T	.	.	0.628	0.70024	P	.	.	2.060003	0.26190	17.03	0.99597868395403555	0.74042	0.03640	0.08888	N	AEFBI	0.092972	0.18816	N	-0.423810767874598	0.24638	1.331687	-0.585282516879468	0.19877	1.068411	0.0634343615361828	0.15295	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	2.08	2.08	0.26079	0.031000	0.13598	0.559000	0.19493	0.489000	0.22316	0.007000	0.17678	0.164000	0.23286	0.381000	0.26357	0.0:0.0:1.0:0.0	9.342	0.37247	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	910.98	40	chr9	117475	.	G	C	910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.028e+00;DP=961;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.44;MQRankSum=-1.230e+00;QD=14.02;ReadPosRankSum=-2.730e-01;SOR=0.828	GT:AD:DP:GQ:PL	0/1:27,38:65:99:925,0,692	20	0	1	0
chr9	121567	121567	T	A	exonic	CBWD1	.	nonsynonymous SNV	CBWD1:NM_001145356:exon14:c.A1031T:p.N344I	.	.	603	913	6	0	0	6	0.00327511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.972	D	0.886	P	0.000	D	1.000	D	3.005	M	2.11	T	-0.857	T	0.135	T	0.559	2.906	15.68	3.08	1.415	5.578	9.583	0.258	.	.	0.0159744	0.0098	0.0011	0.0550	0.0391	0.0079	0.0016	0.0067	0.0018	0.0009573	148	154602	rs141981893	0.0030	0.0031	0.0032	0.0027	0.0425	0.0029	0.0028	0.0409	0.0403	0.0004	0.0425	0.0009	0.0346	0.0061	0.0005	0.0003	0.0039	0.0019	0.0040	0.0042	0.0033	0.0048	0.0371	0.0038	0.0037	0.0328	0.0312	0.0008	0	0.0170	0.0017	0.0371	0.0067	0	0.0003	0.0033	0.0040	0.004	0.65419	D	0.076	0.51421	T	0.972	0.57405	D	0.885	0.62898	P	0.000000	0.84330	D	0.050232	1	0.81001	D	3.455	0.92281	M	2.11	0.19860	T	-5.01	0.82450	D	0.565	0.74280	-0.8565	0.51513	T	0.135	0.45029	T	10	0.009170234	0.00207	T	.	.	.	0.258	0.56959	.	.	0.526174771278	0.52262	0.062268376364465076	0.06166	.	.	0.564214527607	0.47861	T	0.094891	0.70642	T	-0.373797	0.03406	T	-0.283947	0.46399	T	0.043995979828565	0.04419	T	0.965703	0.92384	D	0.67332125	0.76611	0.47839704	0.69785	0.67332125	0.76612	0.47839704	0.69785	-8.873	0.69632	D	.	.	0.388	0.63071	A	.;.;.;.;.	.;.;.;.;.	4.527752	0.71055	25.6	0.99211622578463909	0.55594	0.96159	0.67803	D	AEFI	0.757345	0.69633	D	0.520339410941653	0.68294	5.19737	0.389247430327605	0.60902	4.283128	0.00361152661445483	0.10202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.08	3.08	0.34576	4.571000	0.60593	7.810000	0.69404	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:0.0:1.0	9.583	0.38666	934	0.15400	Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;.;Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1540.98	34	chr9	121567	.	T	A	1540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.421e+00;DP=820;ExcessHet=0.0000;FS=2.139;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.48;MQRankSum=0.321;QD=10.55;ReadPosRankSum=-1.076e+00;SOR=0.524	GT:AD:DP:GQ:PL	0/1:76,70:146:99:1555,0,1890	20	0	1	0
chr9	4118388	4118388	G	A	exonic	GLIS3	.	nonsynonymous SNV	GLIS3:NM_152629:exon3:c.C625T:p.P209S	Diabetes mellitus, neonatal, with congenital hypothyroidism, Autosomal recessive	.	0	1510	12	0	0	12	0.00395778	.	.	308470	Neonatal_diabetes_mellitus_with_congenital_hypothyroidism|Monogenic_diabetes|not_provided	MONDO:MONDO:0012436,MedGen:C1857775,OMIM:610199,Orphanet:79118|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.001	B	0.697	N	1.000	N	-1.645	N	3.04	T	-0.924	T	0.004	T	0.113	-1.951	0.007	2.16	0.147	1.221	7.604	0.068	0.0038800402016	.	0.00219649	0.0025	0.0010	0.0042	0	0.0004	0.0035	0.0040	0.0007	0.0014812	229	154602	rs143056249	0.0020	0.0020	0.0020	0.0020	0.0023	0.0019	0.0019	0.0023	0.0022	0.0002	0.0020	7.7e-05	0	8.808e-05	0.0023	0.0023	0.0022	0.0006	0.0017	0.0017	0.0017	0.0017	0.0039	0.0015	0.0015	0.0031	0.0028	0.0004	0	0.0039	0	0	0.0003	0.0068	0.0025	0.0024	0.0006	0.83	0.02928	T	0.718	0.06284	T	0.0	0.02946	B	0.0	0.04355	B	0.697453	0.10122	N	0.803093	0.999983	0.18198	N	-0.64	0.02118	N	3.04	0.08898	T	0.47	0.03090	N	0.074	0.04913	-0.9240	0.44999	T	0.004	0.01400	T	10	0.004603833	0.00096	T	0.00388	0.09117	T	0.068	0.19811	.	.	0.38225645794	0.37833	0.194961217048772	0.19414	0.0260877877061	0.02663	0.29513540864	0.09677	T	0.024397	0.18443	T	-0.679831	0.00048	T	-0.754234	0.03323	T	0.0047045980365711	0.00050	T	0.660434	0.26965	T	0.023002176	0.01004	0.0446427	0.05830	0.026016003	0.01606	0.041737553	0.04812	-4.121	0.25599	T	.	.	0.066	0.02118	B	.;.	.;.	0.958715	0.13353	9.855	0.22977797875136988	0.00950	0.27591	0.23320	N	AEFDBI	0.103515	0.20737	N	-1.02634273265923	0.08060	0.3765955	-0.852634052249633	0.13224	0.6848539	0.999982086031212	0.51787	0.525926	0.21836	0	0.573888	0.26702	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	5.63	2.16	0.26663	1.242000	0.32358	0.637000	0.20283	0.676000	0.76740	0.998000	0.41325	0.011000	0.20116	0.111000	0.18785	0.3448:0.557:0.0982:0.0	7.604	0.27260	882	0.29131	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	4656.9	44	chr9	4118388	.	G	A	4656.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.70;DP=926;ExcessHet=0.0082;FS=1.919;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=21.97;ReadPosRankSum=0.831;SOR=0.897	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2389,204,0	18	1	2	0
chr9	14801663	14801663	A	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon20:c.T3683A:p.L1228H	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.007	B	0.021	B	0.001	N	1.000	D	2.25	M	1.58	T	-1.036	T	0.090	T	0.536	2.051	12.81	3.14	0.368	2.001	11.515	0.125	0.0133595662315	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400525559	6.185e-06	6.157e-06	5.475e-06	6.902e-06	0.0003	2.91e-06	2.11e-06	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	4.522e-06	3.324e-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	0.052	0.39097	T	0.051	0.47828	T	0.007	0.14184	B	0.021	0.19346	B	0.001242	0.39669	N	0.250325	0.981406	0.39773	D	2.075	0.57047	M	1.58	0.29085	T	-1.01	0.26639	N	0.301	0.38541	-1.0358	0.18606	T	0.090	0.34436	T	10	0.12660825	0.24070	T	0.01336	0.32703	T	0.125	0.34456	0.43	0.47843	0.134241683229	0.13084	0.4622721992036321	0.46145	.	.	0.451329767704	0.32126	T	0.059936	0.31251	T	-0.105515	0.35509	T	-0.389341	0.34627	T	0.544181168079376	0.34260	D	0.613939	0.23413	T	0.22260411	0.44863	0.24550927	0.50041	0.22260411	0.44863	0.24550927	0.50039	-4.176	0.26403	T	0.22057287760708366	0.29736	0.100	0.17146	B	.;.	.;.	1.440709	0.18602	13.83	0.94368066214564539	0.24731	0.82376	0.41613	D	AEFBI	0.209932	0.33588	N	-0.195753160428888	0.33311	1.888398	-0.106733011461343	0.35118	2.027958	0.338196669756765	0.19556	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.51	3.14	0.35196	2.264000	0.42959	2.459000	0.32846	0.691000	0.84096	0.996000	0.39380	0.999000	0.35428	0.954000	0.50415	0.6944:0.3056:0.0:0.0	11.515	0.49766	838	0.37812	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1058.98	35	chr9	14801663	.	A	T	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.041e+00;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.152;SOR=0.605	GT:AD:DP:GQ:PL	0/1:35,39:74:99:1073,0,925	20	0	1	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	0/1:34,22,0:56:99:.:.:519,0,943,555,1038,1669	15	0	5	0
chr9	21206602	21206602	C	T	exonic	IFNA10	.	nonsynonymous SNV	IFNA10:NM_002171:exon1:c.G496A:p.V166I,	.	.	425	1078	19	0	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.01	B	0.098	B	0.211	N	1.000	N	0.245	N	3.85	T	-0.900	T	0.005	T	0.089	1.452	10.80	-1.94	-0.415	-3.312	8.684	0.058	0.0067416697472	0.0047	0.00159744	0.0039	0.0008	0.0017	0	0.0050	0.0058	0.0066	0.0015	0.0036351	562	154602	rs111996205	0.0057	0.0057	0.0058	0.0056	0.0068	0.0056	0.0056	0.0067	0.0066	0.0008	0.0025	0.0025	2.519e-05	0.0039	0.0021	0.0068	0.0042	0.0014	0.0040	0.0040	0.0043	0.0036	0.0064	0.0037	0.0036	0.0059	0.0057	0.0014	0.0077	0.0022	0.0023	0	0.0038	0.0170	0.0064	0.0024	0.0017	0.428	0.09600	T	0.35	0.17478	T	0.01	0.15535	B	0.098	0.30479	B	0.211438	0.16356	N	0.603739	1	0.08975	N	0.94	0.23649	L	3.85	0.03650	T	-0.32	0.12283	N	0.05	0.02179	-0.9005	0.47942	T	0.005	0.01578	T	10	0.00878945	0.00199	T	0.006742	0.17812	T	0.058	0.16647	.	.	0.27479166964	0.27093	0.03224333483997631	0.03172	0.0781142600073	0.08789	0.403188467026	0.25513	T	0.00501	0.04439	T	-0.708063	0.00033	T	-0.784874	0.02309	T	0.00461180378071393	0.00049	T	0.857514	0.54691	D	0.05045114	0.09118	0.037917208	0.03546	0.05045114	0.09117	0.037917208	0.03546	-4.026	0.24192	T	.	.	0.106	0.19478	B	.	.	0.222896	0.06049	2.493	0.88614614976109141	0.18116	0.00202	0.01159	N	AEFI	0.016110	0.00343	N	-1.19330831079294	0.05100	0.2317409	-1.20526167517937	0.05825	0.2786405	7.05669080893917E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.75	-1.94	0.07158	-3.268000	0.00590	.	.	0.470000	0.21925	0.000000	0.06391	0.000000	0.08366	0.918000	0.45347	0.0:0.324:0.0:0.676	8.684	0.33389	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4385.98	34	chr9	21206602	.	C	T	4385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.98;DP=2126;ExcessHet=0.0000;FS=1.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.08;MQRankSum=-4.777e+00;QD=11.22;ReadPosRankSum=0.570;SOR=0.764	GT:AD:DP:GQ:PL	0/1:220,171:391:99:4400,0,5588	20	0	1	0
chr9	34311319	34311319	A	G	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon2:c.T28C:p.C10R,	.	.	432	1089	0	1	0	2	0.000917431	.	.	2332350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.83	T	0.984	D	0.825	P	0.036	N	1.000	D	0.205	N	0.95	T	-1.058	T	0.101	T	0.668	3.500	17.89	5.39	2.048	4.767	15.388	0.274	0.0136335349244	.	.	8.53e-05	0	0	0.0007	0	1.883e-05	0.0014	9.446e-05	5.17e-05	8	154602	rs771597033	4.953e-05	4.994e-05	4.421e-05	5.496e-05	0.0010	4.004e-05	3.676e-05	0.0008	0.0007	0	0	0	0.0010	0	0	1.549e-05	8.461e-05	0.0001	6.566e-05	6.562e-05	3.855e-05	9.398e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	0.057	0.37966	T	0.826	0.03761	T	0.984	0.60733	D	0.825	0.59331	P	0.036116	0.24562	N	0.205916	0.999992	0.58761	D	0.55	0.14455	N	0.95	0.43279	T	-5.49	0.89211	D	0.675	0.71321	-1.0582	0.12209	T	0.101	0.37316	T	10	0.41555658	0.56517	T	0.013634	0.33179	T	0.274	0.59007	0.52	0.62217	0.711402520684	0.70887	0.5054947116060323	0.50471	.	.	0.775542616844	0.78255	T	0.061829	0.31757	T	-0.268071	0.11972	T	-0.249391	0.49878	T	0.297580726971376	0.24904	T	0.70163	0.31127	T	0.881924	0.89826	0.8019369	0.88391	0.881924	0.89827	0.8019369	0.88392	-2.013	0.03567	T	.	.	0.291	0.54116	B	.;.	.;.	4.453594	0.69252	25.3	0.99618161641422531	0.75233	0.93929	0.59602	D	AEFDBI	0.784563	0.71521	D	0.225690528173881	0.52447	3.418783	0.323525886801011	0.56927	3.856748	0.999999996357292	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.39	5.39	0.77615	5.109000	0.64456	11.145000	0.87183	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.388	0.74437	227	0.91186	Sterile alpha motif domain|Sterile alpha motif 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	692.98	46	chr9	34311319	.	A	G	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=859;ExcessHet=0.0000;FS=4.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=-1.260e-01;SOR=1.278	GT:AD:DP:GQ:PL	0/1:47,28:75:99:707,0,1185	20	0	1	0
chr9	35752127	35752127	G	A	exonic	RGP1	.	nonsynonymous SNV	RGP1:NM_001080496:exon8:c.G934A:p.G312S,	.	.	435	1080	6	1	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.256	B	0.262	B	0.000	D	1.000	D	0.19	N	.	.	-1.078	T	0.009	T	0.842	2.989	15.97	5.95	2.826	8.715	19.36	0.236	.	0.0002	0.01877	0.0086	0.0003	0.0004	0.0903	0.0093	0.0010	0.0156	0.0032	0.007322	1132	154602	rs117436169	0.0034	0.0034	0.0034	0.0034	0.0846	0.0033	0.0033	0.0822	0.0812	0.0002	0.0003	0	0.0846	0.0102	0.0005	0.0004	0.0053	0.0030	0.0041	0.0041	0.0031	0.0050	0.0768	0.0038	0.0037	0.0706	0.0682	0.0005	0	0.0009	0	0.0768	0.0088	0	0.0008	0.0043	0.0066	0.168	0.23007	T	0.528	0.10173	T	0.256	0.31372	B	0.262	0.39564	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.06	0.26948	L	.	.	.	0.28	0.04233	N	0.817	0.81261	-1.0783	0.07681	T	0.009	0.03359	T	9	0.008027047	0.00182	T	.	.	.	0.236	0.53931	.	.	0.223847106136	0.22009	0.5677121351429831	0.56699	0.235098826708	0.26036	0.756472826004	0.75405	T	0.006811	0.06237	T	-0.0607059	0.42797	T	0.203403	0.83313	D	0.0214643458364821	0.00850	T	0.891311	0.62583	D	0.20490862	0.42616	0.25338176	0.50985	0.20490862	0.42616	0.25338176	0.50984	-6.327	0.48936	T	.	.	0.103	0.18497	B	.	.	3.455889	0.48149	22.6	0.98518281409734576	0.42434	0.99418	0.95776	D	AEFDBI	0.931516	0.92045	D	0.0355887456048824	0.43481	2.640117	0.271499661492494	0.53881	3.555123	1.0	0.98316	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.95	5.95	0.96415	8.868000	0.91959	10.018000	0.83123	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.36	0.94422	98	0.95963	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2311.98	37	chr9	35752127	.	G	A	2311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=941;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-1.828e+00;SOR=0.665	GT:AD:DP:GQ:PL	0/1:96,99:195:99:2326,0,1964	20	0	1	0
chr9	36217426	36217426	T	C	exonic	GNE	.	nonsynonymous SNV	GNE:NM_001190384:exon10:c.A1778G:p.D593G	Nonaka myopathy, Autosomal recessive;Sialuria, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.873	P	0.461	P	0.000	D	1.000	D	2.18	M	-4.94	D	1.074	D	0.972	D	0.484	4.040	20.7	5.67	2.165	7.649	13.856	0.715	0.795000559655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.018	0.65728	D	0.682	0.47975	P	0.202	0.46460	B	0.000000	0.84330	D	0.089477	1	0.81001	D	1.59	0.40313	L	-4.94	0.99694	D	-1.05	0.37566	N	0.324	0.36674	1.074	0.98710	D	0.972	0.99132	D	10	0.79060614	0.78627	D	0.795001	0.98393	D	0.715	0.89877	0.672	0.81002	0.989804873231	0.98969	0.9140961493075387	0.91384	1.14632707793	0.79085	0.396394729614	0.24567	T	0.846887	0.96479	D	0.234855	0.77176	D	0.0995763	0.76879	D	0.847838606738069	0.49980	D	0.968903	0.88767	D	0.8738637	0.89170	0.56811047	0.74997	0.8738637	0.89171	0.56811047	0.74997	-7.935	0.61350	D	0.11223124384236334	0.09687	0.772	0.75997	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.384087	0.67603	25.1	0.99665961886020704	0.78266	0.98675	0.85440	D	AEFDGBIJ	0.927908	0.91129	D	0.453308551935474	0.64391	4.692547	0.534487875788925	0.70325	5.488713	0.999999999957322	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	7.626000	0.82344	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	13.856	0.63027	422	0.81333	.;.;.;.;.;.;.	.	.	.	.	.	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	3150.98	39	chr9	36217426	.	T	C	3150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.048;DP=949;ExcessHet=0.0000;FS=0.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.105;SOR=0.614	GT:AD:DP:GQ:PL	0/1:123,128:251:99:3165,0,3066	20	0	1	0
chr9	37740804	37740804	C	T	exonic	FRMPD1	.	nonsynonymous SNV	FRMPD1:NM_001371223:exon15:c.C2276T:p.P759L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.79	P	0.36	B	0.069	N	0.947	N	1.955	M	2.57	T	-1.048	T	0.069	T	0.094	2.352	13.82	3.56	0.601	2.587	9.340	0.077	0.0154358754295	.	0.000199681	2.483e-05	0	0	0	0	4.521e-05	0	0	2.59e-05	4	154602	rs546200227	9.577e-06	9.577e-06	8.167e-06	1.1e-05	2.236e-05	5.56e-06	4.35e-06	4.55e-06	3.32e-06	0	2.236e-05	0	0	1.872e-05	0	8.993e-06	3.311e-05	0	2.626e-05	2.625e-05	2.57e-05	2.685e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.79	0.44599	P	0.36	0.43183	B	0.068893	0.21642	N	0.517317	0.946895	0.26617	N	2.38	0.68558	M	2.57	0.13552	T	-4.98	0.82141	D	0.16	0.17140	-1.0475	0.15102	T	0.069	0.28180	T	10	0.13054946	0.24845	T	0.015436	0.36172	T	0.077	0.22490	0.289	0.24921	0.409124616982	0.40530	0.4859161840309267	0.48511	0.165591226774	0.18678	0.3413875103	0.16645	T	0.167427	0.51406	T	-0.337391	0.05570	T	-0.614758	0.11603	T	0.824055075645447	0.48075	D	0.653935	0.26417	T	0.09453393	0.22229	0.17796858	0.40434	0.09453393	0.22228	0.17796858	0.40433	-4.795	0.34533	T	.	.	0.074	0.04932	B	.;.	.;.	2.194821	0.27984	17.65	0.9917480210234777	0.54498	0.14155	0.18252	N	AEFDGBI	0.165615	0.29213	N	-0.158283001528843	0.34884	1.996797	-0.248487340959466	0.29823	1.674064	0.999980030572841	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.46	3.56	0.39892	3.517000	0.53201	0.809000	0.21733	0.599000	0.40250	0.097000	0.22731	0.000000	0.08366	0.616000	0.31793	0.0:0.8165:0.0:0.1835	9.340	0.37233	679	0.60090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	903.98	39	chr9	37740804	.	C	T	903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.813e+00;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.86;ReadPosRankSum=1.93;SOR=0.665	GT:AD:DP:GQ:PL	0/1:20,37:57:99:918,0,533	20	0	1	0
chr9	42188817	42188817	C	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C3115T:p.P1039S,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.216	B	0.135	B	0.728	N	1.000	N	1.67	L	3.67	T	-0.922	T	0.014	T	0.306	0.856	8.463	-0.032	0.005	-0.000	3.334	0.012	0.0456385205545	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887831016	0.0002	0.0002	0.0002	0.0002	0.0034	0.0002	0.0002	0.0029	0.0027	0.0020	0.0001	0	0.0034	0	0.0007	8.193e-05	0.0003	7.165e-05	0.0006	0.0007	0.0007	0.0005	0.0020	0.0005	0.0005	0.0016	0.0014	0.0020	0	0.0002	0	0.0020	0	0	6.736e-05	0.0006	0.0003	0.028	0.46129	D	0.022	0.57587	D	.	.	.	.	.	.	0.727608	0.09882	N	0.817547	1	0.08975	N	.	.	.	3.76	0.03892	T	-1.24	0.31375	N	0.02	0.00308	-0.9852	0.33784	T	0.018	0.07612	T	10	0.07540965	0.11651	T	0.001683	0.02779	T	.	.	.	.	0.0954503805726	0.09146	0.12174031007356954	0.12101	.	.	0.281958669424	0.07768	T	0.00615	0.05589	T	-0.331355	0.06009	T	-0.713745	0.05104	T	0.293457955121994	0.24734	T	0.594241	0.21993	T	0.041383933	0.06083	0.046831865	0.06612	0.041383933	0.06083	0.046831865	0.06611	-2.49	0.05713	T	.	.	0.110	0.21125	B	.	.	0.663097	0.10314	7.046	0.98791614284431228	0.46301	0.00515	0.02406	N	AEFI	0.027532	0.02265	N	-0.631091542447212	0.18015	0.9319199	-0.868786497536138	0.12836	0.662633	1.09979115200389E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-0.13	0.12839	-0.113000	0.10745	-20.000000	0.00162	0.210000	0.17975	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.5112:0.0:0.4888	4.784	0.12586	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1090.24	33	chr9	42188817	.	C	T	1090.24	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.983e+00;DP=681;ExcessHet=0.0000;FS=4.660;InbreedingCoeff=-0.0364;MLEAC=1;MLEAF=0.024;MQ=34.65;MQRankSum=1.61;QD=15.57;ReadPosRankSum=-1.408e+00;SOR=0.272	GT:AD:DP:GQ:PL	0/1:29,41:70:99:1104,0,750	20	0	1	0
chr9	74747900	74747900	A	G	exonic	TRPM6	.	nonsynonymous SNV	TRPM6:NM_001177310:exon31:c.T5057C:p.I1686T	Hypomagnesemia 1, intestinal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.183	B	0.107	B	.	.	1.000	D	-0.55	N	0.77	T	-1.103	T	0.045	T	0.047	0.743	7.944	-0.879	-0.322	-0.298	4.765	0.034	0.0231058990097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.736e-06	1.364e-06	2.756e-06	2.528e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.528e-05	0	0	1.801e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.25873	T	0.562	0.09083	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.81001	D	0.55	0.14455	N	0.77	0.49642	T	0.72	0.02099	N	0.042	0.01498	-1.1027	0.03779	T	0.045	0.19397	T	9	0.025411487	0.00736	T	0.023106	0.46051	T	0.034	0.08419	0.2	0.11384	0.043077524339	0.03247	0.18401752744216007	0.18320	0.312276279515	0.33530	0.235256046057	0.02379	T	0.105474	0.41598	T	-0.325454	0.06461	T	-0.705268	0.05542	T	0.0321650489754837	0.02332	T	0.142786	0.01162	T	0.035530113	0.04199	0.05522946	0.09647	0.035530113	0.04199	0.05522946	0.09646	-3.179	0.12226	T	.	.	0.050	0.00168	B	.;.;.	.;.;.	0.529861	0.08986	5.767	0.70621821584927424	0.09356	0.09335	0.15112	N	AEFI	0.134100	0.25399	N	-1.02233836326027	0.08141	0.3807035	-0.891123775876019	0.12304	0.6321162	0.0742376348595993	0.15659	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.48	-0.879	0.10076	-0.297000	0.08312	-0.261000	0.10426	-0.163000	0.11536	0.023000	0.19925	0.344000	0.24438	0.995000	0.73285	0.129:0.2841:0.0:0.5869	4.765	0.12500	844	0.36711	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	316.98	34	chr9	74747900	.	A	G	316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.252e+00;DP=742;ExcessHet=0.0000;FS=1.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.04;ReadPosRankSum=0.962;SOR=0.507	GT:AD:DP:GQ:PL	0/1:27,18:45:99:331,0,648	20	0	1	0
chr9	76189177	76189177	T	C	exonic	PCSK5	.	nonsynonymous SNV	PCSK5:NM_001190482:exon19:c.T2464C:p.Y822H	.	.	432	1058	29	3	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.995	D	0.000	N	1.000	D	2.49	M	1.5	T	-0.681	T	0.268	T	0.306	3.858	19.60	2.08	0.116	3.472	9.496	0.248	.	0.0002	0.00139776	0.0026	0.0004	0.0004	0	0	0.0002	0.0066	0.0177	0.0021863	338	154602	rs138949162	0.0012	0.0012	0.0006	0.0018	0.0181	0.0012	0.0012	0.0174	0.0171	8.968e-05	0.0002	0	0	0	0.0042	0.0001	0.0013	0.0181	0.0006	0.0006	0.0002	0.0009	0.0122	0.0005	0.0004	0.0097	0.0088	0.0001	0	0.0007	0	0	0	0	0.0001	0	0.0122	0.042	0.91255	D	0.09	0.74150	T	1.0	0.90584	D	0.995	0.83170	D	0.000017	0.62929	N	0.158960	0.995768	0.42845	D	1.665	0.42610	L	0.64	0.52867	T	-3.55	0.68764	D	0.34	0.40963	-0.6813	0.61312	T	0.268	0.63929	T	10	0.008988649	0.00203	T	.	.	.	0.248	0.55615	.	.	0.429435026966	0.42563	0.722959823309916	0.72239	0.111227701114	0.12544	0.479971021414	0.36052	T	0.378387	0.74137	T	-0.399413	0.02336	T	-0.331569	0.41295	T	0.0572492513179974	0.06729	T	0.756924	0.43862	T	0.23949578	0.46840	0.24015962	0.49383	0.23949578	0.46840	0.24015962	0.49382	-5.331	0.47671	T	.	.	0.107	0.40032	B	.;.;.;.	.;.;.;.	2.912691	0.38644	20.8	0.99792041021072841	0.87750	0.93957	0.59684	D	AEFBI	0.370293	0.45672	N	0.436052703106801	0.63417	4.574932	0.353987682553457	0.58749	4.047325	0.376577922199579	0.19921	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.7	2.08	0.26079	3.631000	0.54022	0.801000	0.21659	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.201:0.0:0.799	9.496	0.38156	905	0.23532	.;.;.;Growth factor receptor domain 4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1150.11	34	chr9	76189177	.	T	C	1150.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.59;DP=786;ExcessHet=0.1072;FS=1.530;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.09;ReadPosRankSum=1.24;SOR=0.919	GT:AD:DP:GQ:PL	0/1:29,27:56:99:628,0,662	19	0	2	0
chr9	82997016	82997016	A	G	exonic	RASEF	.	nonsynonymous SNV	RASEF:NM_152573:exon14:c.T1916C:p.I639T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.954	P	0.985	D	0.001	N	1.000	D	2.29	M	-1.37	T	0.305	D	0.639	D	0.61	3.889	19.77	4.48	0.929	9.270	11.597	0.793	0.16202023477	.	.	1.65e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs751669186	5.65e-06	5.474e-06	5.647e-06	5.653e-06	2.535e-05	2.43e-06	1.76e-06	2.72e-06	1.75e-06	0	0	0	2.535e-05	0	0	6.539e-06	0	0	1.972e-05	1.97e-05	3.854e-05	0	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	0.004	0.65419	D	0.003	0.76473	D	0.954	0.54400	P	0.985	0.76457	D	0.001421	0.39109	N	0.246707	0.999981	0.54805	D	2.6	0.76081	M	-1.37	0.80214	T	-4.09	0.74821	D	0.858	0.85449	0.305	0.87632	D	0.639	0.87391	D	10	0.9774169	0.97572	D	0.16202	0.84168	D	0.793	0.93188	0.872	0.96425	0.829482567802	0.82786	0.6047715587816743	0.60408	0.754637081558	0.63948	0.414985507727	0.27146	T	0.596037	0.86984	D	0.130017	0.67363	D	-0.0355298	0.68000	D	0.979944825172424	0.73096	D	0.871013	0.57621	D	0.53468627	0.69097	0.34948176	0.60573	0.53468627	0.69098	0.34948176	0.60572	-12.006	0.84881	D	.	.	0.455	0.62445	A	.	.	4.670003	0.74633	26.2	0.99821558002964272	0.90414	0.98388	0.82268	D	AEFDBI	0.882881	0.81135	D	0.68003139376482	0.78322	6.848621	0.634422443207195	0.77455	6.682776	0.999957541078523	0.48110	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.65	4.48	0.53973	9.290000	0.95109	8.091000	0.76520	0.756000	0.94297	1.000000	0.71638	0.992000	0.31684	0.993000	0.69303	0.8663:0.0:0.0:0.1337	11.597	0.50233	913	0.21160	Small GTP-binding protein 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	1862.98	33	chr9	82997016	.	A	G	1862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.760e-01;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=0.621;SOR=0.710	GT:AD:DP:GQ:PL	0/1:82,78:160:99:1877,0,2005	20	0	1	0
chr9	86323072	86323072	G	C	exonic	TUT7	.	nonsynonymous SNV	TUT7:NM_001185074:exon9:c.C2309G:p.S770C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.994	D	0.000	D	1.000	D	0.975	L	0.66	T	-0.398	T	0.303	T	0.687	3.602	18.34	5.48	2.861	3.630	19.556	0.179	0.028740471742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.994	0.82059	D	0.000154	0.49130	D	0.220851	0.904207	0.36246	D	2.215	0.62545	M	0.21	0.60610	T	-2.21	0.49684	N	0.448	0.68342	-0.3982	0.72084	T	0.303	0.67409	T	10	0.30388108	0.47916	T	0.02874	0.51367	D	0.179	0.44899	0.444	0.50139	0.239312915715	0.23560	0.2827960835067818	0.28192	0.707468071399	0.61491	0.380290567875	0.22297	T	0.050143	0.28509	T	0.111007	0.65456	D	-0.0783226	0.65026	T	0.948582470417023	0.62927	D	0.924208	0.72277	D	0.13598523	0.31541	0.15283899	0.35942	0.13598523	0.31541	0.15283899	0.35942	-5.926	0.45656	T	.	.	0.173	0.42067	B	.;.;.	.;.;.	4.710999	0.75686	26.4	0.99188849495856113	0.54906	0.91449	0.53556	D	AEFGBCI	0.550816	0.56314	D	0.590057878118778	0.72555	5.823982	0.608230509532505	0.75537	6.328024	0.999999772690786	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.48	5.48	0.80675	3.713000	0.54610	9.946000	0.82693	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	19.556	0.95339	595	0.68488	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2173.98	35	chr9	86323072	.	G	C	2173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=1.21;SOR=0.657	GT:AD:DP:GQ:PL	0/1:83,79:162:99:2188,0,2163	20	0	1	0
chr9	88132145	88132145	C	T	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.G892A:p.V298I	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0001	0.0011	0.0002	0	0	4.524e-05	0	0.0001	0.0002689	7	26028	rs642814	0.0001	0.0001	0.0001	8.963e-05	0.0014	9.356e-05	8.839e-05	0.0011	0.0010	0.0014	8.986e-05	3.838e-05	0	0	0.0002	8.292e-05	0.0002	1.16e-05	0.0006	0.0006	0.0005	0.0006	0.0017	0.0005	0.0004	0.0014	0.0013	0.0017	0	0.0002	0	0	0.0002	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4041.98	39	chr9	88132145	.	C	T	4041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.34;DP=1205;ExcessHet=0.0000;FS=2.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.59;MQRankSum=-1.823e+01;QD=9.76;ReadPosRankSum=9.000e-03;SOR=0.926	GT:AD:DP:GQ:PL	0/1:250,164:414:99:4056,0,6323	20	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.935	H	-3.73	D	1.004	D	0.941	D	0.414	2.778	15.25	2.15	0.116	2.094	10.600	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	16167.74	344	chr9	92080918	.	G	C	16167.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.447e+00;DP=7903;ExcessHet=54.0936;FS=420.103;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=1.19;SOR=16.175	GT:AD:DP:GQ:PL	0/1:225,157:395:99:1165,0,3704	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	2/2:0,0,78,0,0,0:78:99:3088,3090,3091,233,235,0,3090,3091,235,3091,3090,3091,235,3091,3091,3090,3091,235,3091,3091,3091	1	2	3	0
chr9	92474748	92474748	-	TCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGA:p.D50_E51insD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	2/2:0,0,78,0,0,0:78:99:3088,3090,3091,233,235,0,3090,3091,235,3091,3090,3091,235,3091,3091,3090,3091,235,3091,3091,3091	1	2	3	0
chr9	92474748	92474748	-	TCATCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGATGA:p.D50_E51insDDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	2/2:0,0,78,0,0,0:78:99:3088,3090,3091,233,235,0,3090,3091,235,3091,3090,3091,235,3091,3091,3090,3091,235,3091,3091,3091	1	2	3	0
chr9	92474748	92474748	-	TCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGA:p.D50_E51insDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	2/2:0,0,78,0,0,0:78:99:3088,3090,3091,233,235,0,3090,3091,235,3091,3090,3091,235,3091,3091,3090,3091,235,3091,3091,3091	1	2	3	0
chr9	97854424	97854424	-	GCC	exonic	FOXE1	.	nonframeshift insertion	FOXE1:NM_004473:exon1:c.510_511insGCC:p.A179_I180insA,	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755194188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10238.96	16	chr9	97854418	.	AGCCGCC	AGCCGCCGCC,A	10238.96	.	AC=2,29;AF=0.048,0.690;AN=42;BaseQRankSum=0.545;DP=637;ExcessHet=0.4237;FS=0.947;InbreedingCoeff=0.1378;MLEAC=2,29;MLEAF=0.048,0.690;MQ=60.00;MQRankSum=0.00;QD=30.56;ReadPosRankSum=1.13;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,6:6:19:.:.:271,271,271,19,19,0	2	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.991	D	0.000	D	1.000	D	0.53	N	4.0	T	-1.074	T	0.061	T	0.838	4.266	22.3	5.66	2.151	7.665	15.905	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2812	2879.53	98	chr9	106974250	.	T	C	2879.53	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-3.477e+00;DP=2598;ExcessHet=4.7172;FS=245.377;InbreedingCoeff=-0.3916;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.97;ReadPosRankSum=1.47;SOR=12.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:128,67:195:99:.:.:324,0,2128	7	0	9	5
chr9	108855134	108855134	G	A	exonic	ACTL7B	.	nonsynonymous SNV	ACTL7B:NM_006686:exon1:c.C797T:p.P266L,	.	.	295	1221	6	0	0	6	0.00245098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.005	B	0.011	B	0.002	N	0.992	N	1.29	L	3.24	T	-1.016	T	0.018	T	0.283	-1.108	0.136	3.37	1.197	4.404	5.378	0.099	0.00752112602978	0.0008	0.000399361	0.0014	0.0003	0.0023	0	0	0.0019	0.0012	0.0001	0.0013001	201	154602	rs115068245	0.0014	0.0014	0.0014	0.0014	0.0028	0.0013	0.0013	0.0017	0.0014	0.0002	0.0012	0.0103	0	3.823e-05	0.0028	0.0014	0.0017	0.0002	0.0011	0.0011	0.0010	0.0012	0.0017	0.0009	0.0009	0.0014	0.0013	0.0002	0	0.0005	0.0081	0	9.416e-05	0.0034	0.0017	0.0014	0	1.0	0.00964	T	0.544	0.09621	T	0.005	0.12996	B	0.011	0.15521	B	0.001988	0.37503	N	0.000000	0.992447	0.23881	N	1.195	0.30194	L	3.24	0.06845	T	0.66	0.02297	N	0.136	0.13341	-1.0165	0.24852	T	0.018	0.07470	T	10	0.0058436394	0.00130	T	0.007521	0.19952	T	0.099	0.28413	.	.	0.462982567029	0.45924	0.8605460909224839	0.86018	1.24303543032	0.81606	0.410971820354	0.26592	T	0.353538	0.72081	T	-0.535157	0.00358	T	-0.571572	0.15306	T	0.0131929458371452	0.00234	T	0.707729	0.31835	T	0.04835459	0.08413	0.058558825	0.10839	0.04835459	0.08413	0.058558825	0.10839	-3.266	0.13302	T	.	.	0.120	0.24934	B	.	.	2.500909	0.32279	19.00	0.77532047738309784	0.11915	0.45036	0.27449	N	AEFDBI	0.044702	0.07225	N	-0.548765397085854	0.20522	1.08247	-0.496933823152631	0.22239	1.206904	0.99988958161483	0.44867	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.26	3.37	0.37692	4.440000	0.59717	7.383000	0.58465	0.672000	0.70159	0.975000	0.34726	1.000000	0.68203	0.005000	0.06747	0.1664:0.0:0.6688:0.1647	5.378	0.15475	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1611.98	34	chr9	108855134	.	G	A	1611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.41;DP=902;ExcessHet=0.0000;FS=0.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-2.090e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:80,60:140:99:1626,0,2066	20	0	1	0
chr9	109943006	109943006	G	T	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001037293:exon7:c.G721T:p.A241S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.989	D	0.869	P	.	.	1.000	D	1.655	L	2.35	T	-1.139	T	0.081	T	0.326	3.277	17.00	6.17	2.941	5.211	19.868	0.192	0.0118219655845	.	.	.	.	.	.	.	.	.	.	.	.	.	rs987764582	5.473e-06	5.472e-06	4.084e-06	6.875e-06	1.159e-05	2.35e-06	1.7e-06	.	.	0	0	0	0	0	0	0	0.0001	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522	0.18246	T	0.704	0.07766	T	0.989	0.62824	D	0.869	0.61749	P	.	.	.	.	1	0.81001	D	1.78	0.46185	L	2.35	0.16217	T	-0.35	0.13226	N	0.095	0.23125	-1.1391	0.01392	T	0.081	0.32002	T	9	0.25007588	0.42328	T	0.011822	0.29821	T	0.192	0.47115	.	.	0.604342690544	0.60117	0.13835584810251533	0.13759	0.338721449428	0.35836	.	.	.	0.049039	0.28191	T	-0.156628	0.27279	T	-0.462762	0.26298	T	0.433633277350203	0.30195	T	0.831417	0.49863	T	0.12647909	0.29622	0.13265502	0.31829	0.12647909	0.29622	0.13265502	0.31828	-5.306	0.40003	T	.	.	0.143	0.39949	B	.;.;.;.	.;.;.;.	3.515947	0.49260	22.7	0.99385093095610433	0.62068	0.98795	0.86952	D	AEFBI	0.763295	0.70044	D	0.580783268938007	0.71975	5.733572	0.638148336940381	0.77732	6.73613	0.99996382001245	0.48965	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.904000	0.62975	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.868	0.96822	820	0.40914	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2668.98	34	chr9	109943006	.	G	T	2668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.607e+00;DP=875;ExcessHet=0.0000;FS=9.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.61;ReadPosRankSum=1.12;SOR=1.179	GT:AD:DP:GQ:PL	0/1:71,100:171:99:2683,0,1893	20	0	1	0
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.977	D	0.002	N	0.528	D	1.87	L	0.88	T	-0.548	T	0.199	T	0.636	0.801	8.213	4.73	1.367	2.869	8.596	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1628.87	70	chr9	110137052	.	G	C	1628.87	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-2.866e+00;DP=1349;ExcessHet=3.5521;FS=192.403;InbreedingCoeff=-0.3771;MLEAC=10;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.60;ReadPosRankSum=0.889;SOR=10.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,29:105:99:0|1:110137052_G_C:371,0,2455:110137052	6	0	8	7
chr9	110137054	110137054	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084C:p.A362P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.996	D	0.000	D	0.802	D	1.445	L	0.85	T	-0.701	T	0.211	T	0.556	0.977	8.990	4.46	2.691	3.205	11.752	0.106	0.0240367102959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.656e-05	0.0033	4.12e-05	3.187e-05	0.0002	2.851e-05	2.586e-05	3.493e-05	3.152e-05	3.008e-05	0	3.836e-05	0	0	0.0002	4.541e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.206	0.31833	T	0.98	0.77913	D	0.731	0.84481	P	0.000361	0.45440	D	0.192211	0.801683	0.34520	D	1.6	0.40776	L	0.85	0.47130	T	-0.13	0.17417	N	0.259	0.43029	-0.7007	0.60404	T	0.211	0.57174	T	10	0.23016733	0.39961	T	0.024037	0.47022	T	0.106	0.30130	0.217	0.13788	0.713993983955	0.71148	0.23740471580261735	0.29225	0.516168458663	0.49506	0.390263020992	0.23706	T	0.030762	0.21729	T	-0.0678756	0.41665	T	-0.335275	0.40877	T	0.783624947071075	0.45278	D	0.90061	0.65471	D	0.24448925	0.47398	0.26249248	0.52042	0.24448925	0.47398	0.26249248	0.52041	-8.416	0.66933	D	.	.	0.663	0.75561	P	.;.;.;.;.;.	.;.;.;.;.;.	4.039548	0.59798	24.1	0.98775053701776594	0.46033	0.67690	0.33524	D	AEFBCIJ	0.269496	0.38576	N	0.281387811107843	0.55205	3.684758	0.278666808938951	0.54296	3.594986	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	1505.95	70	chr9	110137054	.	G	C,A	1505.95	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.967e+00;DP=1369;ExcessHet=2.5830;FS=184.238;InbreedingCoeff=-0.2728;MLEAC=2,6;MLEAF=0.059,0.176;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.29;SOR=10.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,29,0:105:99:0|1:110137052_G_C:371,0,2455,595,2540,3135:110137052	10	0	2	4
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.997	D	0.989	D	0.000	D	0.555	D	1.79	L	0.82	T	-0.607	T	0.231	T	0.281	1.466	10.85	4.46	2.691	3.205	11.752	0.058	0.0262409829576	.	.	1.678e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777202417	6.173e-06	6.157e-06	8.191e-06	4.136e-06	0.0002	2.91e-06	2.1e-06	0.0001	7.819e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.084	0.42976	T	0.873	0.70673	P	0.461	0.78396	P	0.000361	0.45440	D	0.192211	0.554502	0.32161	D	1.95	0.52479	M	0.82	0.48142	T	-0.38	0.20145	N	0.196	0.26596	-0.6067	0.64540	T	0.231	0.59732	T	10	0.15551329	0.29309	T	0.026241	0.49161	D	0.058	0.16647	0.201	0.11522	0.606491963429	0.60334	0.1585652680794885	0.19118	0.413830099629	0.42075	0.353128492832	0.18382	T	0.05449	0.29740	T	-0.32145	0.06780	T	-0.414803	0.31673	T	0.136570181284112	0.15976	T	0.914109	0.69400	D	0.07271283	0.16195	0.093768194	0.22163	0.07271283	0.16195	0.093768194	0.22162	-5.913	0.46163	T	.	.	0.123	0.36653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.350669	0.46210	22.3	0.99576051814353395	0.72682	0.77969	0.38401	D	AEFBCIJ	0.274752	0.38987	N	0.18937847889013	0.50690	3.256583	0.211920241110118	0.50507	3.242088	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	1505.95	70	chr9	110137054	.	G	C,A	1505.95	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.967e+00;DP=1369;ExcessHet=2.5830;FS=184.238;InbreedingCoeff=-0.2728;MLEAC=2,6;MLEAF=0.059,0.176;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.29;SOR=10.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,29,0:105:99:0|1:110137052_G_C:371,0,2455,595,2540,3135:110137052	10	0	2	4
chr9	110406407	110406407	C	A	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon38:c.G9193T:p.G3065C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.993	D	0.000	D	1.000	D	3.47	M	1.7	T	-0.525	T	0.252	T	0.483	2.393	13.96	5.71	2.697	5.758	19.863	0.337	0.0115628140936	.	.	8.286e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs768349767	4.789e-06	4.788e-06	5.445e-06	4.126e-06	5.396e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000011	0.62929	D	0.149633	0.99044	0.41161	D	4.19	0.97772	H	.	.	.	.	.	.	0.355	0.42345	-0.5254	0.67714	T	0.252	0.62189	T	10	0.4072864	0.55981	T	0.011563	0.29307	T	0.337	0.65913	0.56	0.67958	0.110392049598	0.10638	0.6594878585333578	0.65885	0.501333492851	0.48519	0.470808386803	0.34791	T	0.12768	0.45486	T	0.0412874	0.57214	T	-0.17847	0.56665	T	0.99547004699707	0.87491	D	0.774123	0.40598	T	0.36089796	0.57904	0.26503465	0.52331	0.36089796	0.57905	0.26503465	0.52330	-8.375	0.63599	D	.	.	0.399	0.59522	A	.;.	.;.	4.234574	0.64158	24.7	0.994390988576899	0.64670	0.99187	0.92514	D	AEFDBI	0.887423	0.81966	D	0.784825778690251	0.85147	8.49034	0.684896538234898	0.81232	7.478771	0.479094416416694	0.20770	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	2.280000	0.43103	5.897000	0.50837	0.547000	0.25779	0.998000	0.41325	1.000000	0.68203	0.642000	0.32476	0.0:1.0:0.0:0.0	19.863	0.96791	969	0.06854	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1892.98	93	chr9	110406407	.	C	A	1892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.850e-01;DP=1400;ExcessHet=0.0000;FS=6.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-7.390e-01;SOR=1.150	GT:AD:DP:GQ:PL	0/1:101,75:176:99:1907,0,2793	20	0	1	0
chr9	112416942	112416948	GTGGTAG	-	exonic	HSDL2	.	nonframeshift deletion	HSDL2:NM_032303:exon5:c.497_499del:p.C166_A167delinsS,	.	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	8.969e-05	0	0	7.78e-05	0	0.0010	0.0001358	21	154602	rs753784761	8.629e-05	0.0001	6.066e-05	0.0001	0.0016	7.332e-05	6.851e-05	0.0008	0.0006	0	0.0001	0	2.564e-05	1.876e-05	0.0016	3.441e-05	0.0001	0.0007	8.535e-05	8.53e-05	3.855e-05	0.0001	0.0008	4.953e-05	3.96e-05	0.0003	0.0002	4.811e-05	0	0	0	0	0	0	0.0001	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1281.94	33	chr9	112416941	.	TGTGGTAG	T	1281.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e-01;DP=802;ExcessHet=0.0000;FS=4.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.44;ReadPosRankSum=2.11;SOR=0.312	GT:AD:DP:GQ:PL	0/1:44,34:78:99:1296,0,1745	20	0	1	0
chr9	113425366	113425368	GCA	-	exonic	C9orf43	.	nonframeshift deletion	C9orf43:NM_001278629:exon10:c.888_890del:p.Q304del	.	.	0	191	29	0	6	35	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0455	.	0.0077	0.0081	0.0088	0.0112	0.0082	0.0065	0.0057	0.0093	0.0003074	8	26028	rs371732185	9.978e-05	0.0028	8.758e-05	0.0001	0.0007	8.629e-05	8.095e-05	0.0002	0.0001	6.014e-05	9.044e-05	7.73e-05	0.0002	0.0002	0.0007	9.397e-05	3.334e-05	0.0001	1.317e-05	3.94e-05	1.288e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	2.413e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1735.12	34	chr9	113425365	.	GGCA	G,GGCAGCA	1735.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.392;DP=680;ExcessHet=0.6776;FS=4.348;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-5.560e-01;SOR=1.079	GT:AD:DP:GQ:PL	0/2:17,0,19:36:99:719,770,1483,0,713,656	17	0	1	0
chr9	113425368	113425368	-	GCA	exonic	C9orf43	.	nonframeshift insertion	C9orf43:NM_001278629:exon10:c.890_891insGCA:p.Q304_K305insQ	.	.	0	191	29	0	6	35	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1735.12	34	chr9	113425365	.	GGCA	G,GGCAGCA	1735.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.392;DP=680;ExcessHet=0.6776;FS=4.348;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-5.560e-01;SOR=1.079	GT:AD:DP:GQ:PL	0/2:17,0,19:36:99:719,770,1483,0,713,656	17	0	1	0
chr9	114330017	114330017	G	A	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon1:c.G113A:p.R38Q,	.	.	435	1084	3	0	0	3	0.00138185	0	0.008	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.026	B	0.001	B	0.018	N	1.000	N	-0.345	N	2.45	T	-1.041	T	0.032	T	0.036	0.475	6.577	-2.56	-0.672	-0.946	2.588	0.012	.	.	0.00319489	0.0039	0.0149	0.0035	0.0104	0.0030	0.0028	0.0022	0.0023	0.0013831	36	26028	rs147969317	0.0017	0.0032	0.0017	0.0017	0.0100	0.0016	0.0016	0.0091	0.0088	0.0100	0.0016	0.0181	0.0049	0.0012	0.0034	0.0009	0.0031	0.0015	0.0034	0.0048	0.0036	0.0032	0.0077	0.0032	0.0031	0.0070	0.0067	0.0077	0	0.0010	0.0199	0.0054	0.0006	0.0073	0.0012	0.0031	0.0015	0.544	0.06713	T	0.331	0.18505	T	0.026	0.19406	B	0.001	0.04355	B	0.018297	0.01484	N	2.323500	1	0.08975	N	0.55	0.14455	N	2.45	0.15028	T	0.49	0.02993	N	0.05	0.02179	-1.0407	0.17101	T	0.032	0.13767	T	10	0.003000021	0.00049	T	.	.	.	0.012	0.01476	.	.	0.0954503805726	0.09146	0.24244381273343107	0.24158	1.7173250147	0.90521	.	.	.	0.00128	0.00766	T	-0.452833	0.01087	T	-0.88824	0.00589	T	0.000523507168379068	0.00004	T	0.556144	0.19298	T	0.063782714	0.13466	0.058953926	0.10981	0.063782714	0.13466	0.058953926	0.10980	-1.651	0.02104	T	.	.	0.072	0.04159	B	.	.	-0.644395	0.01455	0.089	0.70322285213462099	0.09258	0.00704	0.02988	N	AEFDGBI	0.347476	0.44193	N	-1.62254332619592	0.01156	0.05024092	-1.66498243087482	0.01300	0.05866159	0.999995258515621	0.74766	0.559995	0.30671	0	0.514364	0.08380	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	2.77	-2.56	0.05903	-1.109000	0.03420	-1.826000	0.04656	-1.915000	0.00511	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.3508:0.0:0.2901:0.359	2.588	0.04542	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	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	1337.98	34	chr9	114330017	.	G	A	1337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.220e-01;DP=841;ExcessHet=0.0000;FS=2.961;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.44;MQRankSum=-2.990e-01;QD=8.98;ReadPosRankSum=0.012;SOR=0.971	GT:AD:DP:GQ:PL	0/1:87,62:149:99:1352,0,2121	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|1:212,33:245:99:0|1:114406374_C_G:259,0,8129:114406374	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|1:212,33:245:99:0|1:114406374_C_G:259,0,8129:114406374	9	0	10	2
chr9	121074833	121074833	G	A	exonic	C5	.	nonsynonymous SNV	C5:NM_001317163:exon1:c.C4T:p.P2S,	C5 deficiency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	.	.	.	.	.	.	-0.878	T	0.123	T	.	1.039	9.245	-0.029	-0.130	-1.626	5.367	0.007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887105125	4.607e-05	2.226e-05	3.057e-05	5.78e-05	8.808e-05	2.771e-05	2.188e-05	5.302e-05	4.188e-05	0	0	0	0	0	0	8.808e-05	0	0	4.598e-05	4.596e-05	0	9.412e-05	0.0001	2.109e-05	1.526e-05	4.764e-05	3.338e-05	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2442.98	33	chr9	121074833	.	G	A	2442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.608;DP=940;ExcessHet=0.0000;FS=1.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-8.040e-01;SOR=0.826	GT:AD:DP:GQ:PL	0/1:77,98:175:99:2457,0,1712	20	0	1	0
chr9	121302986	121302986	G	T	exonic	GSN	.	nonsynonymous SNV	GSN:NM_000177:exon3:c.G425T:p.R142L	Amyloidosis, Finnish type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3142530	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.443	B	0.112	B	0.000	D	1.000	D	0.24	N	0.67	T	-1.024	T	0.056	T	0.445	3.128	16.46	2.61	0.792	4.729	5.283	0.118	0.00975534117397	0.0002	.	4.145e-05	0	0	0	0	7.556e-05	0	0	3.23e-05	5	154602	rs138153246	2.258e-05	2.257e-05	1.634e-05	2.888e-05	0.0002	1.61e-05	1.417e-05	1.914e-05	1.661e-05	0	0	0	0	0	0.0002	2.698e-05	3.312e-05	0	4.6e-05	4.597e-05	0	9.416e-05	0.0001	2.109e-05	1.527e-05	4.764e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.231	0.18823	T	0.275	0.22761	T	0.072	0.23997	B	0.055	0.25995	B	0.000005	0.62929	D	0.104080	0.729828	0.36775	D	0.91	0.23283	L	0.67	0.52187	T	-1.65	0.59545	N	0.508	0.57263	-1.0242	0.22344	T	0.056	0.23639	T	10	0.21495125	0.38033	T	0.009755	0.25449	T	0.118	0.32913	.	.	0.647084603319	0.64416	0.6522120701850136	0.65157	0.545019556791	0.51540	0.466607928276	0.34216	T	0.029412	0.50167	T	-0.2147	0.18721	T	-0.341627	0.40159	T	0.13834595642424	0.16131	T	0.948305	0.80045	D	0.34102046	0.56360	0.23734736	0.49030	0.34102046	0.56360	0.23734736	0.49029	-6.583	0.55989	T	.	.	0.175	0.43962	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.110138	0.61357	24.3	0.99367681651522877	0.61283	0.89612	0.50188	D	AEFBCI	0.788585	0.71803	D	-0.208077951494937	0.32803	1.853986	-0.0406058209007126	0.37899	2.225388	0.999990194072184	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.79	2.61	0.30255	3.899000	0.56000	3.853000	0.40098	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.5019:0.0:0.4981:0.0	5.283	0.14997	932	0.16191	.;Gelsolin-like domain;.;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;.;Gelsolin-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	2523.98	34	chr9	121302986	.	G	T	2523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=850;ExcessHet=0.0000;FS=2.140;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.72;ReadPosRankSum=1.66;SOR=0.519	GT:AD:DP:GQ:PL	0/1:56,95:151:99:2538,0,1249	20	0	1	0
chr9	122750215	122750215	G	A	exonic	OR1L6	.	nonsynonymous SNV	OR1L6:NM_001004453:exon2:c.G368A:p.R123Q,	.	.	432	1081	8	1	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.936	P	0.401	B	0.000	D	0.997	D	2.475	M	-1.06	T	0.097	D	0.461	T	0.772	4.360	23.0	4.62	2.557	9.353	16.721	0.605	0.0293884667453	0.0003	.	0.0005	9.621e-05	0.0006	0	0	0.0007	0.0011	0.0004	0.0004722	73	154602	rs200034055	0.0005	0.0005	0.0004	0.0005	0.0033	0.0004	0.0004	0.0022	0.0018	0.0001	0.0004	0	7.557e-05	1.872e-05	0.0033	0.0005	0.0006	0.0008	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0004	0.0004	0.0001	0	0.0003	0	0.0002	0	0	0.0006	0.0009	0.0008	0.001	0.78490	D	0.001	0.83351	D	0.936	0.52359	P	0.401	0.44513	B	0.000100	0.51296	D	0.000000	0.996827	0.43441	D	3.685	0.94485	H	-1.06	0.76819	T	-3.81	0.71882	D	0.722	0.82761	0.097	0.84116	D	0.461	0.79078	T	10	0.7076005	0.72837	D	0.029388	0.51906	D	0.605	0.84452	.	.	0.861613838153	0.86027	0.4320018680132829	0.43117	0.753655960627	0.63907	0.233626097441	0.02247	T	0.184124	0.53668	T	-0.0269628	0.47858	T	0.10671	0.77354	D	0.195371025171588	0.20156	T	0.885611	0.61095	D	0.8005201	0.83938	0.6463544	0.79322	0.8005201	0.83940	0.6463544	0.79322	-8.687	0.65661	D	.	.	0.224	0.45859	B	.;.	.;.	4.182065	0.62963	24.5	0.99943250607066381	0.99848	0.99501	0.96794	D	AEFGBI	0.801412	0.72712	D	0.681461827554251	0.78419	6.867603	0.682061255970301	0.81019	7.429613	0.999999999727043	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.62	4.62	0.56946	9.697000	0.97946	2.837000	0.35056	0.563000	0.28513	1.000000	0.71638	0.198000	0.23548	0.002000	0.04165	0.0:0.0:1.0:0.0	16.721	0.85270	927	0.17636	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5504.98	127	chr9	122750215	.	G	A	5504.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.66;DP=3245;ExcessHet=0.0000;FS=1.200;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.50;MQRankSum=-2.011e+00;QD=14.26;ReadPosRankSum=-2.188e+00;SOR=0.620	GT:AD:DP:GQ:PL	0/1:187,199:386:99:5519,0,4565	20	0	1	0
chr9	127890812	127890812	C	T	exonic	ST6GALNAC6	.	nonsynonymous SNV	ST6GALNAC6:NM_001287000:exon4:c.G427A:p.E143K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.387	B	0.388	B	0.000	D	1.000	N	1.09	L	1.82	T	-0.987	T	0.082	T	0.654	3.582	18.25	5.61	2.644	3.570	18.196	0.132	0.00887410427006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.46910	T	0.236	0.32355	T	0.387	0.34533	B	0.388	0.44086	B	0.000231	0.47286	D	0.245968	1	0.81001	D	1.42	0.35681	L	1.82	0.25018	T	-1.59	0.39119	N	0.563	0.70439	-0.9865	0.33469	T	0.082	0.32178	T	10	0.23160103	0.40137	T	0.008874	0.23390	T	0.132	0.35948	0.499	0.58991	0.37262878642	0.36876	0.693180553437494	0.69258	1.04342931365	0.75877	0.720459878445	0.70114	T	0.059046	0.31008	T	-0.0129965	0.49845	T	-0.256445	0.49178	T	0.899720788002014	0.55207	D	0.974353	0.90870	D	0.17266275	0.37970	0.1839912	0.41424	0.17266275	0.37969	0.1839912	0.41423	-8.04	0.63639	D	.	.	0.231	0.52728	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.289794	0.45108	22.1	0.99846230029536509	0.92576	0.89597	0.50163	D	AEFGBI	0.336909	0.43488	N	0.0674434909399498	0.44948	2.759751	0.162777959102058	0.47823	3.006811	0.999999990375533	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	3.617000	0.53923	5.977000	0.52101	0.594000	0.32500	0.992000	0.37556	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	18.196	0.89756	312	0.87382	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1998.98	33	chr9	127890812	.	C	T	1998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.830;DP=890;ExcessHet=0.0000;FS=0.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.363;SOR=0.660	GT:AD:DP:GQ:PL	0/1:99,87:186:99:2013,0,2281	20	0	1	0
chr9	128101182	128101182	G	C	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006641:exon2:c.G348C:p.K116N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.881	P	0.593	P	0.000	D	1.000	D	2.355	M	0.89	T	-0.234	T	0.486	T	0.226	1.878	12.24	-1.27	-0.511	-0.489	13.159	0.278	0.115383419939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.17468	T	0.305	0.20486	T	0.881	0.48446	P	0.593	0.50536	P	0.000000	0.84330	D	0.087699	0.999999	0.81001	D	2.34	0.67151	M	0.89	0.80387	T	-2.66	0.59710	D	0.487	0.55886	-0.2337	0.76790	T	0.486	0.80441	T	10	0.16160071	0.30308	T	0.115383	0.79455	D	0.278	0.59497	0.591	0.71999	0.171220215726	0.16700	0.6806528368207055	0.68004	0.713815710114	0.61846	0.838614344597	0.87883	D	0.305529	0.67778	T	-0.0597631	0.42946	T	-0.323622	0.42176	T	0.529833555221558	0.33728	D	0.947505	0.80370	D	0.42320445	0.62304	0.32403204	0.58331	0.42320445	0.62305	0.32403204	0.58330	-7.747	0.73540	D	.	.	0.558	0.77574	A	.;.;.;.;.	.;.;.;.;.	1.452777	0.18743	13.90	0.98597571278657536	0.43454	0.27556	0.23311	N	AEFGBI	0.195335	0.32238	N	-0.694203406124448	0.16186	0.8224066	-0.713057584978373	0.16636	0.8809873	0.999932680091442	0.46732	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.33	-1.27	0.08863	-0.472000	0.06702	-0.668000	0.07948	-0.046000	0.17342	0.037000	0.20830	0.000000	0.08366	0.998000	0.85391	0.3502:0.0:0.6498:0.0	13.159	0.58953	231	0.90996	.;.;.;.;EF-hand domain|EF-hand domain|EF-hand 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	0.09524	77.14	127	chr9	128101182	.	G	C	77.14	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.161e+00;DP=1237;ExcessHet=0.6776;FS=115.371;InbreedingCoeff=-0.0994;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.18;ReadPosRankSum=1.27;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,13:114:6:0|1:128101182_G_C:6,0,4091:128101182	17	0	4	0
chr9	128190801	128190801	-	TGCTGGAGCTGCTGCTGCTGT	exonic	CIZ1	.	nonframeshift insertion	CIZ1:NM_001131015:exon2:c.56_57insACAGCAGCAGCAGCTCCAGCA:p.Q19_L20insQQQQLQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	5.758e-06	6.842e-06	5.684e-06	5.834e-06	1.265e-05	2.48e-06	1.79e-06	2e-06	1.32e-06	0	0	0	0	0	0	5.573e-06	1.733e-05	1.265e-05	1.315e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	2.409e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	315.94	33	chr9	128190801	.	C	CTGCTGGAGCTGCTGCTGCTGT	315.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.62;DP=717;ExcessHet=0.0000;FS=3.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=0.00;SOR=1.349	GT:AD:DP:GQ:PL	0/1:15,9:24:99:330,0,578	20	0	1	0
chr9	128634837	128634837	C	T	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1066A:p.G356S,	.	.	415	1082	24	1	0	26	0.0118721	.	.	458911	not_provided|DYNC2I2-related_disorder|Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly	MedGen:C3661900|.|MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.402	B	0.119	B	0.000	D	1.000	D	1.91	M	1.65	T	-1.085	T	0.061	T	0.855	3.786	19.22	5.24	2.448	5.565	17.824	0.183	0.111733181486	0.0028	0.00339457	0.0044	0.0005	0.0064	0	0.0006	0.0046	0.0050	0.0077	0.0036998	572	154602	rs17849504	0.0029	0.0030	0.0026	0.0033	0.0083	0.0029	0.0028	0.0078	0.0076	0.0004	0.0043	0.0083	5.039e-05	0.0015	0.0080	0.0025	0.0039	0.0083	0.0027	0.0027	0.0027	0.0026	0.0079	0.0024	0.0024	0.0059	0.0052	0.0005	0	0.0020	0.0101	0.0004	0.0019	0.0102	0.0037	0.0024	0.0079	0.164	0.23360	T	0.187	0.28764	T	0.402	0.34891	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	1.65	0.27650	T	-2.12	0.48184	N	0.635	0.64818	-1.0853	0.06353	T	0.061	0.25635	T	10	0.014472216	0.00304	T	0.111733	0.78962	D	0.183	0.45592	.	.	0.350524144436	0.34660	0.663641422864043	0.66301	0.353134030552	0.37127	0.622149705887	0.56032	T	0.057986	0.30717	T	-0.169954	0.25242	T	-0.012058	0.69550	D	0.0169857053249468	0.00448	T	0.785321	0.42297	T	0.29473332	0.52428	0.22070257	0.46855	0.29473332	0.52428	0.22070257	0.46854	-6.276	0.48532	T	.	.	0.150	0.33203	B	.	.	3.101871	0.41810	21.4	0.99747808364856505	0.84002	0.95916	0.66708	D	AEFDGBCI	0.831345	0.74990	D	0.0751261407202568	0.45305	2.789209	0.149914993195619	0.47136	2.948535	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	5.24	0.72863	5.642000	0.67561	7.528000	0.59870	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	17.824	0.88570	389	0.83303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5394.68	36	chr9	128634837	.	C	T	5394.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.857;DP=1077;ExcessHet=0.3300;FS=0.517;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=1.16;SOR=0.664	GT:AD:DP:GQ:PL	0/1:79,52:131:99:1232,0,2055	18	0	3	0
chr9	128714590	128714590	G	A	exonic	PKN3	.	nonsynonymous SNV	PKN3:NM_001317926:exon12:c.G1510A:p.G504S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.02	B	0.024	B	.	.	1.000	N	0.405	N	1.61	T	-0.987	T	0.037	T	0.129	1.223	9.962	0.612	0.122	1.027	5.368	0.021	0.00717200934169	7.7e-05	.	8.292e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs147486451	1.626e-05	2.413e-05	8.718e-06	2.354e-05	2.015e-05	1.04e-05	8.38e-06	1.227e-05	1.003e-05	0	0	0	0	0	0	2.015e-05	3.957e-05	0	6.576e-06	6.568e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.53	0.07025	T	0.532	0.10034	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	1.61	0.28391	T	0.11	0.05706	N	0.243	0.27435	-0.9873	0.33273	T	0.037	0.15856	T	9	0.05372131	0.05609	T	0.007172	0.19006	T	0.021	0.04004	.	.	0.193865811164	0.18958	0.2653753530927664	0.26450	0.336977223862	0.35698	0.23176792264	0.02101	T	0.110347	0.42496	T	-0.336551	0.05630	T	-0.657563	0.08432	T	0.0169832097093445	0.00448	T	0.640736	0.25328	T	0.01795853	0.00319	0.03346386	0.02245	0.01795853	0.00319	0.03346386	0.02245	-3.275	0.13417	T	.	.	0.083	0.09336	B	.	.	0.751744	0.11215	7.847	0.72897294782074573	0.10135	0.52116	0.29055	D	AEFDGBI	0.085758	0.17387	N	-0.825941004341009	0.12649	0.6179337	-0.772302293976513	0.15175	0.7967977	0.853933691830853	0.25096	0.706548	0.73137	0	0.694456	0.67091	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.91	0.612	0.16768	0.044000	0.13876	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.328000	0.25156	0.1772:0.3417:0.4811:0.0	5.368	0.15425	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1114.98	38	chr9	128714590	.	G	A	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.870;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.471;SOR=0.642	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1129,0,1026	20	0	1	0
chr9	128721783	128721783	C	T	exonic	ZDHHC12	.	nonsynonymous SNV	ZDHHC12:NM_001318015:exon4:c.G515A:p.R172H	.	.	430	1090	2	0	0	2	0.00091659	.	.	2239316	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.218	B	0.027	B	0.045	N	0.791	N	1.235	L	1.92	T	-1.068	T	0.040	T	0.252	4.308	22.6	3.74	2.200	0.963	4.263	0.053	0.00423443741375	0.0004	.	0.0004	9.756e-05	0.0003	0	0	0.0007	0.0011	0	0.0004075	63	154602	rs146354591	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0002	0.0011	0.0008	8.961e-05	0.0003	0.0038	5.038e-05	0	0.0019	0.0002	0.0004	0	0.0003	0.0003	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	4.811e-05	0	0.0007	0.0029	0	0	0.0068	0.0002	0.0014	0	0.125	0.36509	T	0.141	0.41913	T	0.109	0.26142	B	0.015	0.17295	B	0.044823	0.23598	N	0.453294	0.790549	0.29231	N	1.52	0.38360	L	1.92	0.23082	T	-1.04	0.34198	N	0.246	0.33796	-1.0684	0.09768	T	0.040	0.17319	T	10	0.014626592	0.00307	T	0.004234	0.10216	T	0.053	0.14996	.	.	0.0762999501168	0.06990	0.42142061826271077	0.42058	0.22138815959	0.24677	0.475829809904	0.35483	T	0.005444	0.17609	T	-0.412673	0.01908	T	-0.50661	0.21663	T	0.0419776805748135	0.04050	T	0.931907	0.74605	D	0.09354279	0.21973	0.05158233	0.08329	0.09354279	0.21973	0.05158233	0.08328	-5.389	0.40813	T	.	.	0.087	0.17657	B	.;.;.;.	.;.;.;.	3.103176	0.41828	21.4	0.99937510461061574	0.99661	0.45492	0.27550	N	AEFDBCI	0.272692	0.38827	N	-0.153428428469622	0.35087	2.01107	-0.0275884260023746	0.38475	2.267224	0.99999996385771	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.78	3.74	0.42108	0.800000	0.26703	2.478000	0.32927	0.599000	0.40250	0.507000	0.27010	0.990000	0.31317	0.995000	0.73285	0.0:0.7029:0.0:0.2971	4.263	0.10201	0	0.99858	Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC 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	679.98	42	chr9	128721783	.	C	T	679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.302;DP=845;ExcessHet=0.0000;FS=2.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=0.088;SOR=0.946	GT:AD:DP:GQ:PL	0/1:22,24:46:99:694,0,618	20	0	1	0
chr9	129040499	129040499	G	T	exonic	MIGA2	.	nonsynonymous SNV	MIGA2:NM_032809:exon2:c.G97T:p.V33L,	.	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0003493	54	154602	rs193049423	0.0029	0.0028	0.0030	0.0027	0.0039	0.0028	0.0028	0.0032	0.0032	0.0005	0.0015	0.0024	0	0.0008	0.0039	0.0033	0.0031	0.0009	0.0018	0.0018	0.0019	0.0018	0.0030	0.0017	0.0016	0.0026	0.0025	0.0005	0	0.0018	0.0020	0	0.0015	0	0.0030	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1912.98	33	chr9	129040499	.	G	T	1912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.50;DP=852;ExcessHet=0.0000;FS=0.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=1.03;SOR=0.786	GT:AD:DP:GQ:PL	0/1:86,76:162:99:1927,0,1989	20	0	1	0
chr9	130354885	130354885	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon32:c.G4987A:p.E1663K,	.	.	432	1075	15	0	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0107	0	0.0154	0	0	0.0204	0.0064	0.0064	0.0022445	347	154602	rs147929126	0.0066	0.0052	0.0064	0.0067	0.0091	0.0064	0.0064	0.0069	0.0061	0.0006	0.0067	0.0468	0	0.0041	0.0091	0.0061	0.0081	0.0064	0.0056	0.0056	0.0057	0.0056	0.0105	0.0053	0.0052	0.0092	0.0087	0.0017	0	0.0105	0.0406	0	0.0031	0.0204	0.0060	0.0047	0.0052	.	.	.	0.33	0.18560	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.0061682463	0.00139	T	.	.	.	.	.	.	.	0.126345400529	0.12197	0.5057489386732594	0.50496	.	.	.	.	.	0.011027	0.09890	T	-0.481281	0.00727	T	-0.459958	0.26603	T	.	.	.	0.614539	0.23442	T	0.093031876	0.21839	0.25402975	0.51061	0.093031876	0.21839	0.25402975	0.51060	-4.351	0.28886	T	.	.	0.075	0.05579	B	.	.	2.883339	0.38162	20.7	0.99755237795846929	0.84615	0.93249	0.57715	D	AEFDBI	0.496276	0.53129	N	.	.	.	.	.	.	0.0834187431312703	0.15927	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.26	3.36	0.37579	4.408000	0.59518	4.373000	0.43156	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.1035:0.0:0.8965:0.0	9.926	0.40661	576	0.70006	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2533.11	35	chr9	130354885	.	G	A	2533.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.37;DP=929;ExcessHet=0.1072;FS=5.191;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.47;ReadPosRankSum=0.853;SOR=0.621	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1211,0,1253	19	0	2	0
chr9	130410587	130410587	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon85:c.G12896A:p.R4299Q,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.168	B	0.028	B	.	.	0.999	N	0.41	N	-1.07	T	-0.925	T	0.212	T	0.062	1.847	12.14	-4.2	-1.142	-0.876	15.942	0.145	.	.	.	0.0001	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs775077922	6.651e-05	6.43e-05	5.645e-05	7.685e-05	0.0009	5.535e-05	5.134e-05	0.0003	0.0002	6.33e-05	2.801e-05	0	0	0	0.0009	4.727e-05	0.0001	0.0004	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0006	1.26e-05	7.97e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	.	.	.	0.977	0.02440	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04547	-0.9246	0.44915	T	0.212	0.57281	T	8	0.026502669	0.00815	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.11343897901770826	0.11271	.	.	.	.	.	0.001258	0.00742	T	-0.527488	0.00397	T	-0.692347	0.06254	T	0.0209464031812465	0.00795	T	0.193581	0.02086	T	0.06620595	0.14223	0.16463055	0.38127	0.06620595	0.14223	0.16463055	0.38126	-3.496	0.16375	T	.	.	0.051	0.00179	B	.	.	0.266916	0.06449	2.922	0.96613108531452263	0.30452	0.00558	0.02546	N	AEFDGBI	0.037980	0.05306	N	-1.38477358456089	0.02780	0.123252	-1.36167188370077	0.03670	0.1716817	0.999695485391934	0.41870	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.63	-4.2	0.03562	-0.672000	0.05345	-2.846000	0.03302	-0.527000	0.04968	0.000000	0.06391	0.000000	0.08366	0.961000	0.51904	0.2764:0.0:0.7236:0.0	15.942	0.79551	371	0.84287	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1371.98	36	chr9	130410587	.	G	A	1371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=812;ExcessHet=0.0000;FS=0.720;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=9.000e-03;SOR=0.835	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1386,0,1494	20	0	1	0
chr9	131478506	131478506	G	C	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384823:exon17:c.G2563C:p.G855R	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.998	D	0.958	D	0.027	U	1.000	D	1.445	L	4.58	T	-0.851	T	0.144	T	0.357	3.425	17.58	5.42	2.549	4.091	16.374	0.103	.	0.0002	0.00419329	0.0010	0.0005	0	0.0118	0.0002	0.0002	0.0011	0.0002	0.0010931	169	154602	rs201654931	0.0006	0.0006	0.0006	0.0006	0.0161	0.0006	0.0006	0.0151	0.0147	0.0002	0	0.0010	0.0161	3.746e-05	0.0003	6.387e-05	0.0013	0.0007	0.0007	0.0007	0.0007	0.0007	0.0132	0.0006	0.0005	0.0107	0.0097	0.0004	0	0	0.0017	0.0132	0	0	0.0002	0	0.0010	0.066	0.36113	T	0.579	0.09829	T	0.997	0.70673	D	0.909	0.64565	D	0.026772	0.25864	U	0.180712	1	0.81001	D	2.14	0.59869	M	4.27	0.02513	T	-1.8	0.45949	N	0.319	0.51761	-0.8513	0.51878	T	0.144	0.46678	T	10	0.0068279207	0.00155	T	.	.	.	0.154	0.40340	0.121	0.02793	0.158540857583	0.15491	0.3947180178259431	0.39386	0.597579573787	0.54949	0.501875638962	0.39089	T	0.029098	0.20925	T	-0.467424	0.00882	T	-0.436237	0.29229	T	0.0271859247219928	0.01570	T	0.917108	0.70302	D	0.10066169	0.23771	0.11908732	0.28744	0.10066169	0.23771	0.11908732	0.28744	-3.784	0.27980	T	.	.	0.237	0.47094	B	.;.	.;.	4.336591	0.66495	25.0	0.9991175947735853	0.98095	0.93866	0.59418	D	ALL	0.543410	0.55875	D	0.18636832772727	0.50545	3.243454	0.222443109555185	0.51096	3.295067	0.999999998137408	0.74766	0.77792	0.99625	0	0.697927	0.68747	0	0.854111	0.99894	0	0.741806	0.99463	0	.	.	5.42	5.42	0.78666	4.533000	0.60328	9.864000	0.82078	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.760000	0.36145	0.0:0.0:1.0:0.0	16.374	0.83213	479	0.77495	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	683.98	33	chr9	131478506	.	G	C	683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.676e+00;DP=778;ExcessHet=0.0000;FS=4.249;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=9.000e-03;SOR=0.358	GT:AD:DP:GQ:PL	0/1:48,37:85:99:698,0,1163	20	0	1	0
chr9	131525948	131525948	C	A	exonic	UCK1	.	nonsynonymous SNV	UCK1:NM_001135954:exon5:c.G538T:p.A180S,	.	.	441	12	103	962	4	2031	0.988298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.000	P	.	.	.	.	-1.006	T	0.084	T	.	1.509	11.00	-5.08	-1.075	-1.779	8.437	0.047	.	.	0.00359425	0.0115	0.0019	0.0029	0	0.0449	0.0153	0.0165	0.0005	0.0101616	1571	154602	rs2296957	0.0096	0.0096	0.0096	0.0095	0.0095	0.0094	0.0094	0.0093	0.0093	0.0010	0.0026	0.0129	0	0.0450	0.0040	0.0095	0.0079	0.0007	0.0100	0.0100	0.0094	0.0106	0.0126	0.0096	0.0094	0.0119	0.0117	0.0019	0.0022	0.0045	0.0130	0	0.0421	0.0102	0.0126	0.0076	0.0006	0.011	0.55530	D	0.243	0.24193	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.961213	0.81001	P	.	.	.	.	.	.	0.0	0.07008	N	0.172	0.18376	-1.0056	0.28277	T	0.084	0.32900	T	6	0.0025280416	0.00038	T	.	.	.	0.047	0.12962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405995	0.02114	T	-0.339041	0.40452	T	0.00859621503851041	0.00105	T	0.247575	0.03662	T	.	.	.	.	.	.	.	.	-3.789	0.20640	T	.	.	0.073	0.04599	B	.	.	-0.350826	0.02404	0.268	0.94187066689665522	0.24411	0.05572	0.11472	N	AEFDGBI	0.025031	0.01647	N	-1.132785988659	0.06068	0.2783438	-1.18764225716248	0.06115	0.2933808	0.994168486267738	0.33516	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	-5.08	0.02708	-1.771000	0.01887	-0.905000	0.06976	-2.303000	0.00321	0.001000	0.13787	0.000000	0.08366	0.763000	0.36255	0.1735:0.394:0.4325:0.0	8.437	0.31954	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.9048	62824.01	90	chr9	131525948	.	C	T,A	62824.01	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-7.610e-01;DP=2393;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=60.00;MQRankSum=0.00;QD=26.87;ReadPosRankSum=0.558;SOR=0.662	GT:AD:DP:GQ:PL	1/1:0,104,0:104:99:3134,312,0,3134,312,3134	0	17	3	0
chr9	134421677	134421677	C	T	exonic	RXRA	.	nonsynonymous SNV	RXRA:NM_001291921:exon5:c.C491T:p.P164L	.	.	427	1094	1	0	0	1	0.00045683	0.0139	0.11	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.141	B	0.014	B	0.000	D	1.000	D	1.335	L	0.71	T	-1.016	T	0.105	T	0.765	2.245	13.47	4.51	2.055	7.420	17.258	0.290	.	.	0.00299521	0.0009	0	8.708e-05	0.0001	0	4.688e-05	0.0038	0.0095	0.0009767	151	154602	rs2234960	0.0005	0.0005	0.0003	0.0007	0.0074	0.0004	0.0004	0.0069	0.0067	3.065e-05	0	0	2.559e-05	0	0.0004	5.834e-05	0.0003	0.0074	0.0003	0.0003	0.0002	0.0003	0.0072	0.0002	0.0002	0.0054	0.0047	0	0	0	0	0.0002	0	0	4.412e-05	0.0005	0.0072	0.05	0.39575	D	0.116	0.36497	T	0.141	0.27581	B	0.014	0.16862	B	0.000356	0.45440	D	0.229986	1	0.81001	D	1.825	0.47900	L	0.71	0.51228	T	-3.61	0.69477	D	0.416	0.45615	-1.0159	0.25045	T	0.105	0.38562	T	10	0.009608179	0.00216	T	.	.	.	0.290	0.60924	0.104	0.01698	0.889384210098	0.88829	0.7269824113318207	0.72642	1.22001278957	0.81056	0.794239640236	0.81087	T	0.411849	0.76618	T	-0.227628	0.16963	T	-0.0944801	0.63821	T	0.171345764056065	0.18671	T	0.945105	0.79107	D	0.31944543	0.54593	0.20539339	0.44706	0.3289293	0.55383	0.23977481	0.49334	-10.457	0.76600	D	0.12133314221763428	0.11504	0.125	0.26263	B	.	.	4.191399	0.63170	24.5	0.96168104791119069	0.28920	0.94997	0.63064	D	AEFDGBHCI	0.937287	0.93485	D	-0.211744992828363	0.32652	1.84371	-0.0944927031133889	0.35618	2.062782	0.999999999997299	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.51	4.51	0.54589	7.548000	0.81103	7.424000	0.58739	0.548000	0.25860	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	0.0:1.0:0.0:0.0	17.258	0.86948	784	0.47045	Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4964.11	37	chr9	134421677	.	C	T	4964.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.58;DP=1160;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=0.626;SOR=0.705	GT:AD:DP:GQ:PL	0/1:125,107:232:99:2382,0,2839	19	0	2	0
chr9	135786258	135786258	G	T	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_001272003:exon28:c.G3104T:p.G1035V	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	.	10	1509	3	0	0	3	0.000993049	.	.	370704	not_provided|not_specified|Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|KCNT1-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.077	B	0.045	B	0.182	U	0.998	N	0.345	N	1.98	T	-1.019	T	0.023	T	0.193	-0.406	2.102	0.834	-0.117	1.884	1.633	0.045	0.206949269012	0.0016	0.000199681	0.0022	0.0005	0.0001	0	0.0002	0.0034	0.0015	0.0016	0.0017464	270	154602	rs200250181	0.0026	0.0026	0.0027	0.0025	0.0031	0.0025	0.0025	0.0030	0.0029	0.0004	0.0003	0.0033	0	0.0005	0.0012	0.0031	0.0019	0.0016	0.0015	0.0015	0.0018	0.0013	0.0025	0.0014	0.0013	0.0022	0.0021	0.0005	0	0.0007	0.0040	0	0.0008	0	0.0025	0.0009	0.0004	0.01	0.56456	D	0.327	0.21343	T	.	.	.	.	.	.	0.182232	0.17071	U	0.622383	0.999507	0.22137	N	1.245	0.31408	L	1.82	0.25018	T	-2.47	0.53898	N	0.199	0.35620	-1.0188	0.24106	T	0.023	0.09741	T	10	0.0059975684	0.00135	T	0.206949	0.87067	D	0.045	0.12272	.	.	0.345632371893	0.34166	0.4864247483336566	0.48562	0.111451014864	0.12582	0.438605725765	0.30387	T	0.058305	0.30805	T	-0.431135	0.01459	T	-0.394493	0.34026	T	0.0311117385439214	0.02164	T	0.906109	0.66926	D	0.11251886	0.26582	0.15248744	0.35874	0.21999258	0.44544	0.12053789	0.29088	-5.665	0.44092	T	0.10455608797968416	0.08193	0.081	0.15654	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.984852	0.25217	16.68	0.60217766006453999	0.06410	0.72078	0.35294	D	AEFDBHI	0.397806	0.47373	N	-0.923426679543321	0.10295	0.4913135	-0.885766601434569	0.12430	0.6393792	0.492484821845352	0.20875	0.001892	0.00033	3	0.547309	0.14657	0	0.505578	0.09266	0	0.562822	0.20929	0	.	.	4.85	0.834	0.18015	1.551000	0.35841	3.314000	0.37488	0.672000	0.70159	0.911000	0.31706	1.000000	0.68203	0.005000	0.06747	0.2422:0.1506:0.4665:0.1407	1.633	0.02571	536	0.73233	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	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	1	0	0.02381	881.98	46	chr9	135786258	.	G	T	881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.730e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=-1.097e+00;SOR=0.763	GT:AD:DP:GQ:PL	0/1:28,38:66:99:896,0,639	20	0	1	0
chr9	137051225	137051225	C	T	exonic	ENTPD2	.	nonsynonymous SNV	ENTPD2:NM_001246:exon4:c.G532A:p.E178K	.	.	432	1084	6	0	0	6	0.00275989	.	.	2823667	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.999	D	0.000	D	1.000	D	1.925	M	2.83	T	-1.156	T	0.054	T	0.637	4.605	25.1	4.51	2.328	5.553	16.360	0.219	0.045190224002	0.0062	0.00119808	0.0055	0.0016	0.0023	0	0.0023	0.0088	0.0022	0.0013	0.0054268	839	154602	rs76730730	0.0075	0.0075	0.0077	0.0074	0.0093	0.0074	0.0074	0.0091	0.0090	0.0012	0.0026	0.0003	0	0.0025	0.0003	0.0093	0.0054	0.0010	0.0046	0.0046	0.0052	0.0040	0.0081	0.0043	0.0042	0.0075	0.0073	0.0016	0.0022	0.0041	0	0	0.0015	0	0.0081	0.0019	0.0008	0.091	0.37536	T	0.173	0.30143	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	2.195	0.61839	M	2.83	0.10771	T	-2.72	0.57920	D	0.634	0.64733	-1.1563	0.00850	T	0.054	0.22959	T	10	0.012442589	0.00267	T	0.04519	0.61857	D	0.219	0.51417	.	.	0.718346079901	0.71586	0.8736257368295273	0.87328	0.369265190435	0.38454	0.71075373888	0.68702	T	0.112339	0.42853	T	-0.372401	0.03474	T	-0.297317	0.45008	T	0.0218495455353041	0.00892	T	0.940673	0.77758	D	0.8140864	0.84824	0.6734924	0.80834	0.8140864	0.84825	0.6734924	0.80835	-9.524	0.71008	D	.	.	0.394	0.66450	A	.;.	.;.	5.359213	0.89882	31	0.99901336912038574	0.97275	0.96422	0.69061	D	AEFDGBHCI	0.744647	0.68757	D	0.628725256775922	0.74999	6.22901	0.592900224758422	0.74429	6.135661	0.99999923184933	0.74766	0.676563	0.55306	0	0.844039	0.99811	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	4.51	4.51	0.54589	4.841000	0.62523	7.528000	0.59870	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	16.360	0.83096	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1159.98	36	chr9	137051225	.	C	T	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.641;DP=874;ExcessHet=0.0000;FS=1.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=0.694;SOR=0.630	GT:AD:DP:GQ:PL	0/1:68,49:117:99:1174,0,1802	20	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1289.72	63	chr9	138023729	.	A	G,*	1289.72	.	AC=2,13;AF=0.048,0.310;AN=42;BaseQRankSum=-4.590e-01;DP=1294;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=2,13;MLEAF=0.048,0.310;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.42;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:42,0,39:81:99:.:.:1473,1599,3336,0,1736,1619	7	0	2	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.034	B	0.012	B	0.000	D	1.000	D	0.69	N	1.42	T	-1.076	T	0.048	T	0.262	1.919	12.37	5.57	2.133	5.075	10.134	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	4683.86	92	chr10	825249	.	T	C	4683.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.067e+00;DP=2503;ExcessHet=20.9642;FS=199.373;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=2.13;SOR=13.018	GT:AD:DP:GQ:PL	0/1:111,25:136:43:43,0,2233	5	0	16	0
chr10	11755609	11755609	G	A	splicing	ECHDC3	NM_024693:exon4:c.591+1G>A	.	.	.	.	412	1103	7	0	0	7	0.00316313	1.0000	0.89	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.315	17.14	4.39	1.207	9.593	14.952	.	.	.	0.000798722	0.0006	0	0	0	0	0.0002	0	0.0030	0.0004592	71	154602	rs200347426	0.0003	0.0003	0.0002	0.0004	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0.0002	0	0	0.0014	7.564e-05	0.0005	0.0030	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	9.232e-05	0.0011	0.0009	4.811e-05	0	6.535e-05	0	0	0	0.0034	0.0001	0.0005	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.150078	0.28300	T	0.00765586	0.70832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.531004	0.91870	32	0.97653805563648588	0.35155	0.93494	0.58370	D	AEFDBHCI	.	.	.	0.889784818367901	0.91249	10.790	0.720016191639193	0.83901	8.144262	0.999956599794708	0.48110	0.162113	0.03585	0	0.18701	0.04157	0	0.175069	0.04249	0	0.24566	0.04862	0	0.850128	0.51682	5.31	4.39	0.52211	9.724000	0.98010	9.909000	0.82412	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.858000	0.40661	0.0:0.1438:0.8562:0.0	14.952	0.70730	934	0.15400	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	703.98	64	chr10	11755609	.	G	A	703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.127;DP=1261;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=0.829;SOR=0.776	GT:AD:DP:GQ:PL	0/1:44,31:75:99:718,0,1116	20	0	1	0
chr10	14908583	14908583	-	T	exonic	DCLRE1C	.	frameshift insertion	DCLRE1C:NM_001289076:exon12:c.1558dupA:p.S520Kfs*6	Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, Athabascan type, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	460187	Histiocytic_medullary_reticulosis|Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency|not_provided|not_specified	MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041|MONDO:MONDO:0011225,MedGen:C1865370,OMIM:602450,Orphanet:275|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0004	9.634e-05	8.639e-05	0	0	0.0004	0.0011	0.0010	0.000304	47	154602	rs772947736	0.0002	0.0002	0.0002	0.0003	0.0029	0.0002	0.0002	0.0019	0.0015	2.987e-05	0.0002	0.0017	0	0	0.0029	0.0001	0.0008	0.0011	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	2.407e-05	0	0.0003	0.0017	0	0	0.0034	0.0003	0.0009	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4604.94	42	chr10	14908583	.	C	CT	4604.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=1208;ExcessHet=0.0000;FS=2.126;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-8.060e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:202,187:389:99:4619,0,5090	20	0	1	0
chr10	15833683	15833683	G	A	exonic	MINDY3	.	nonsynonymous SNV	MINDY3:NM_001318330:exon7:c.C158T:p.T53M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	N	1.000	D	2.685	M	1.19	T	-0.506	T	0.250	T	0.656	4.058	20.8	4.84	1.426	9.054	14.754	0.455	0.09453396335	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs201352822	2.675e-05	2.736e-05	3.278e-05	2.067e-05	0.0005	2.003e-05	1.759e-05	0.0004	0.0003	5.995e-05	8.954e-05	0	0.0005	0	0	4.51e-06	3.32e-05	5.814e-05	5.259e-05	5.251e-05	3.858e-05	6.724e-05	0.0004	2.558e-05	1.831e-05	6.823e-05	2.855e-05	2.408e-05	0	0.0002	0	0.0004	0	0	1.471e-05	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	N	0.043653	1	0.81001	D	.	.	.	1.19	0.37578	T	-4.97	0.83830	D	0.928	0.93252	-0.5057	0.68443	T	0.250	0.61969	T	10	0.6747147	0.70922	D	0.094534	0.76270	D	0.455	0.75415	.	.	0.257342827899	0.25358	0.7892098188687574	0.78872	0.600846760602	0.55152	0.835624277592	0.87426	D	0.366114	0.73142	T	-0.049864	0.44470	T	-0.0837008	0.64632	T	0.920954167842865	0.58037	D	0.914409	0.69449	D	0.62232244	0.73888	0.565358	0.74843	0.62232244	0.73889	0.565358	0.74844	-9.034	0.67916	D	.	.	0.320	0.54485	B	.;.;.	.;.;.	5.131401	0.85875	28.7	0.99898009000469157	0.97048	0.98891	0.88239	D	AEFBI	0.883070	0.81170	D	0.822606919197889	0.87498	9.238848	0.772879241718233	0.87852	9.367927	0.989382768283902	0.31809	0.706298	0.61202	0	0.708844	0.79440	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.74	4.84	0.62125	9.211000	0.94222	3.958000	0.40726	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0694:0.0:0.9306:0.0	14.754	0.69169	832	0.38914	Domain of unknown function DUF4205|Domain of unknown function DUF4205;Domain of unknown function DUF4205|Domain of unknown function DUF4205;Domain of unknown function DUF4205|Domain of unknown function DUF4205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	652.98	34	chr10	15833683	.	G	A	652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.205e+00;DP=744;ExcessHet=0.0000;FS=2.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=1.07;SOR=0.324	GT:AD:DP:GQ:PL	0/1:19,26:45:99:667,0,527	20	0	1	0
chr10	18140803	18140803	A	G	exonic	CACNB2	.	nonsynonymous SNV	CACNB2:NM_201593:exon1:c.A67G:p.M23V	Brugada syndrome 4	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.004	B	0.004	B	.	.	1.000	D	0.895	L	-1.65	D	-0.543	T	0.336	T	0.352	1.646	11.46	2.97	1.235	3.625	7.372	0.252	0.755736658304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	1.368e-06	0	2.772e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.018e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.65419	D	0.277	0.24193	T	0.004	0.12183	B	0.001	0.10090	B	.	.	.	.	0.997208	0.22752	N	0.805	0.20218	L	-1.65	0.83157	D	-0.98	0.25986	N	0.432	0.61002	-0.5433	0.67039	T	0.336	0.70248	T	9	0.2950001	0.47070	T	0.755737	0.98057	D	0.252	0.56159	0.333	0.32005	0.784929984649	0.78294	0.39942202417516115	0.39857	0.20667042463	0.23098	0.865435421467	0.91909	D	0.115636	0.43438	T	0.0187113	0.54208	T	-0.210899	0.53610	T	0.141916709966555	0.16439	T	0.681532	0.29028	T	0.25417212	0.48444	0.32400706	0.58328	0.25417212	0.48444	0.32400706	0.58327	-2.343	0.05358	T	.	.	0.103	0.27613	B	.;.;.	.;.;.	3.694875	0.52664	23.3	0.94334188462853041	0.24670	0.59728	0.30996	D	AEFDBHCIJ	0.156129	0.28144	N	-0.490436610506751	0.22394	1.195432	-0.436166744353558	0.23945	1.308473	0.999985635666456	0.51787	0.59774	0.34471	0	0.563428	0.19063	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	2.97	2.97	0.33479	1.658000	0.36992	6.834000	0.56699	0.557000	0.28285	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	7.372	0.25982	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	1231.98	33	chr10	18140803	.	A	G	1231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=822;ExcessHet=0.0000;FS=4.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=1.10;SOR=1.101	GT:AD:DP:GQ:PL	0/1:76,56:132:99:1246,0,1628	20	0	1	0
chr10	25412396	25412396	A	G	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon4:c.A1258G:p.I420V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.009	B	0.000	D	0.999	D	-0.255	N	0.18	T	-0.979	T	0.087	T	0.589	0.443	6.407	6.16	2.367	4.708	16.806	0.171	0.00580834291211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399001129	2.053e-06	1.026e-05	2.724e-06	1.376e-06	2.236e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.236e-05	0	0	0	0	1.8e-06	0	0	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.92	0.02309	T	1.0	0.01155	T	0.008	0.14655	B	0.009	0.14300	B	0.000003	0.62929	D	0.000000	0.999426	0.47006	D	0.6	0.15550	N	0.18	0.60361	T	0.44	0.03243	N	0.27	0.30574	-0.9792	0.35186	T	0.087	0.33662	T	10	0.1521804	0.28750	T	0.005808	0.15101	T	0.171	0.43483	0.448	0.50793	0.161926535498	0.15789	0.3829631867473734	0.38211	0.0840598745579	0.09481	0.538012385368	0.44165	T	0.017669	0.14377	T	-0.0274371	0.47788	T	-0.277188	0.47092	T	0.737176895141602	0.42586	D	0.822218	0.48193	T	0.105158724	0.24861	0.12171046	0.29365	0.105158724	0.24861	0.12171046	0.29364	-5.917	0.45579	T	.	.	0.067	0.04932	B	.;.	.;.	2.077376	0.26423	17.11	0.68464587669978927	0.08666	0.88581	0.48576	D	AEFI	0.384824	0.46580	N	-0.305378770948769	0.28943	1.600737	-0.0121809945739852	0.39164	2.317966	0.184655415091531	0.17919	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	4.720000	0.61636	9.251000	0.79490	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.806	0.85530	832	0.38914	.;GPCR family 3, 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	0.05	295.79	34	chr10	25412396	.	A	G	295.79	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.488e+00;DP=1306;ExcessHet=0.1072;FS=138.745;InbreedingCoeff=-0.0630;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.106;SOR=9.022	GT:AD:DP:GQ:PL	0/1:108,31:139:99:297,0,2320	18	0	2	1
chr10	27040008	27040008	C	G	exonic	ANKRD26	.	nonsynonymous SNV	ANKRD26:NM_001256053:exon21:c.G2329C:p.E777Q	Thrombocytopenia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	429057	not_provided|Thrombocytopenia_2|not_specified	MedGen:C3661900|MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.998	D	0.991	D	0.002	N	0.742	D	2.35	M	2.05	T	-0.816	T	0.093	T	0.108	3.372	17.37	3.32	0.669	3.895	9.765	0.143	0.00804337735528	0.0031	0.000998403	0.0024	0.0009	0.0002	0	0.0032	0.0038	0.0011	0.0004	0.0024709	382	154602	rs139949439	0.0033	0.0033	0.0033	0.0033	0.0039	0.0032	0.0032	0.0038	0.0037	0.0003	0.0003	0.0034	0	0.0039	0.0012	0.0039	0.0025	0.0004	0.0024	0.0024	0.0025	0.0023	0.0040	0.0022	0.0021	0.0036	0.0034	0.0007	0	0.0003	0.0043	0	0.0038	0.0034	0.0040	0.0014	0.0004	0.011	0.57480	D	0.016	0.60972	D	.	.	.	.	.	.	0.001626	0.38439	N	0.107097	0.742407	0.33837	D	.	.	.	2.05	0.20664	T	-2.33	0.51646	N	0.22	0.24634	-0.8159	0.54189	T	0.093	0.35363	T	10	0.009538174	0.00215	T	0.008043	0.21316	T	0.143	0.38195	.	.	0.191931220699	0.18833	0.021920457238004763	0.02144	0.321927182123	0.34392	0.471723377705	0.34917	T	.	.	.	-0.529621	0.00386	T	-0.532725	0.19015	T	0.0117877763103769	0.00182	T	0.757524	0.40183	T	0.23643762	0.46494	0.12840404	0.30892	0.2508831	0.48093	0.20584676	0.44771	-8.362	0.63512	D	.	.	0.184	0.44961	B	.;.	.;.	4.127530	0.61742	24.4	0.99633567398057377	0.76203	0.87344	0.46855	D	AEFBI	0.215577	0.34092	N	0.350702770356115	0.58776	4.052094	0.226348051063712	0.51313	3.315016	7.51589156617231E-4	0.07758	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.18	3.32	0.37134	3.955000	0.56422	0.778000	0.21455	0.541000	0.25215	1.000000	0.71638	0.003000	0.18671	0.998000	0.85391	0.0:0.8287:0.0:0.1713	9.765	0.39722	690	0.58899	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	753.98	34	chr10	27040008	.	C	G	753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.388;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=0.542;SOR=0.678	GT:AD:DP:GQ:PL	0/1:40,35:75:99:768,0,890	20	0	1	0
chr10	27204498	27204498	T	C	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001301254:exon9:c.A976G:p.I326V	.	.	.	.	.	.	.	.	.	.	.	1077011	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.783	P	0.205	B	0.000	N	0.924	D	1.525	L	2.37	T	-1.052	T	0.061	T	0.145	0.694	7.706	2.04	0.446	-0.091	9.973	0.011	0.00312484831803	.	.	0.0004	0	0.0045	0	0	0	0	0	0.0003363	52	154602	rs772621096	9.03e-05	9.029e-05	9.393e-05	8.663e-05	0.0029	7.756e-05	7.3e-05	0.0025	0.0023	0	0.0029	0	0	0	0	1.799e-06	3.312e-05	0	7.884e-05	7.88e-05	0.0001	4.034e-05	0.0008	4.496e-05	3.512e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0	0	0	0.254	0.17701	T	0.395	0.15255	T	0.783	0.44368	P	0.205	0.37080	B	0.000305	0.45977	N	0.241877	0.570854	0.36749	D	2.06	0.56677	M	2.36	0.34253	T	-0.39	0.14193	N	0.284	0.32148	-1.0522	0.13790	T	0.061	0.25383	T	10	0.009190261	0.00208	T	0.003125	0.06786	T	0.011	0.01250	.	.	0.442775082573	0.43898	0.09757736381252521	0.09688	0.107368357967	0.12116	0.484681159258	0.36702	T	0.014771	0.12515	T	-0.531338	0.00377	T	-0.538112	0.18482	T	0.0452595222798661	0.04650	T	0.850515	0.54589	D	0.03167814	0.03051	0.048455138	0.07201	0.042955823	0.06609	0.042826634	0.05189	-4.152	0.32559	T	0.0921755191099624	0.05928	0.066	0.04198	B	.;.;.;.;.	.;.;.;.;.	1.301724	0.17036	12.92	0.82080041629631928	0.14008	0.36703	0.25594	N	AEFBI	0.108111	0.21518	N	-0.431662278019326	0.24366	1.315145	-0.372333690979298	0.25825	1.422623	0.00693316079243253	0.11345	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	2.04	0.25787	0.006000	0.13051	0.452000	0.18532	0.665000	0.62972	0.504000	0.26986	0.999000	0.35428	0.949000	0.49496	0.0:0.3326:0.0:0.6674	9.973	0.40939	784	0.47045	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	70.44	105	chr10	27204498	.	T	C	70.44	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.544e+00;DP=945;ExcessHet=0.3300;FS=154.535;InbreedingCoeff=-0.0739;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.26;ReadPosRankSum=2.03;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,16:72:51:0|1:27204498_T_C:51,0,1670:27204498	18	0	3	0
chr10	27399160	27399160	A	G	exonic	PTCHD3	.	nonsynonymous SNV	PTCHD3:NM_001034842:exon4:c.T1438C:p.S480P,	.	.	426	1091	5	0	0	5	0.00228624	.	.	2435505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.926	D	0.010	N	0.661	N	2.095	M	-2.06	D	0.301	D	0.658	D	0.427	1.581	11.24	-0.52	0.049	2.105	12.796	0.509	0.0950300981948	0.0002	.	0.0003	9.677e-05	0.0009	0	0	0.0003	0	6.064e-05	0.0002975	46	154602	rs199572862	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0.0004	0.0006	0	0	0	0.0026	0.0002	0.0002	9.276e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0	0.0001	0	0	0	0	0.0002	0.0010	0	0.052	0.39097	T	0.046	0.49120	D	0.995	0.67487	D	0.926	0.66095	D	0.009896	0.30155	N	0.327917	0.660899	0.30450	N	2.3	0.65703	M	-2.06	0.85875	D	-2.78	0.58896	D	0.383	0.49602	0.301	0.87581	D	0.658	0.88129	D	10	0.28731513	0.46314	T	0.09503	0.76356	D	0.509	0.78910	.	.	0.32980341726	0.32591	.	.	0.456698694381	0.45327	0.351528823376	0.18147	T	0.486186	0.81278	T	-0.218302	0.18224	T	-0.180267	0.56499	T	0.158306524157524	0.17745	T	.	.	.	0.87295717	0.89098	0.80797505	0.88772	0.87295717	0.89099	0.80797505	0.88773	-7.786	0.59602	D	.	.	0.463	0.62854	A	.;.	.;.	2.713334	0.35474	19.91	0.98755915642568248	0.45739	0.73810	0.36103	D	AEFI	0.309251	0.41560	N	-0.0656492539124449	0.38906	2.285984	-0.290765345741203	0.28401	1.583345	2.23117212727007E-4	0.06048	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.84	-0.52	0.11340	2.136000	0.41744	1.650000	0.27840	0.587000	0.30956	1.000000	0.71638	0.921000	0.28324	0.419000	0.27206	0.2746:0.7254:0.0:0.0	12.796	0.56942	449	0.79428	Sterol-sensing domain;Sterol-sensing 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	1234.98	92	chr10	27399160	.	A	G	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.299;DP=1823;ExcessHet=0.0000;FS=0.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=0.460;SOR=0.565	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1249,0,1398	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	0/1:110,13:123:42:42,0,3041	17	0	4	0
chr10	32664064	32664064	T	A	exonic	CCDC7	.	nonsynonymous SNV	CCDC7:NM_001321115:exon22:c.T2025A:p.D675E,	.	.	1295	225	2	0	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00379393	.	.	.	.	.	.	.	.	0.0012225	189	154602	rs78766756	0.0103	0.0041	0.0103	0.0103	0.0115	0.0100	0.0098	0.0111	0.0109	0.0020	0.0089	0.0093	4.421e-05	0.0189	0.0063	0.0115	0.0084	0	0.0087	0.0087	0.0079	0.0095	0.0112	0.0083	0.0082	0.0106	0.0103	0.0018	0.0439	0.0075	0.0043	0	0.0278	0.0068	0.0112	0.0095	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004268348	0.00085	T	.	.	.	.	.	.	.	.	.	0.001276299474059406	0.00117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273273	0.04638	T	0.03778545	0.04910	0.05448561	0.09379	0.03778545	0.04909	0.05448561	0.09379	-0.899	0.00894	T	.	.	0.167	0.36752	B	.	.	-1.480309	0.00307	0.005	0.73325049313239288	0.10287	0.00075	0.00520	N	AEFI	.	.	.	.	.	.	.	.	.	2.07638469947806E-4	0.05948	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0448725	0.03863	2.23	-4.47	0.03278	-3.556000	0.00482	-20.000000	0.00162	-0.290000	0.06302	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.3572:0.1355:0.0:0.5073	4.474	0.11145	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	436.98	33	chr10	32664064	.	T	A	436.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=711;ExcessHet=0.0000;FS=1.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.10;ReadPosRankSum=-4.200e-02;SOR=0.892	GT:AD:DP:GQ:PL	0/1:28,20:48:99:451,0,647	20	0	1	0
chr10	49167001	49167001	A	G	exonic	TMEM273	.	nonsynonymous SNV	TMEM273:NM_001010863:exon3:c.T106C:p.Y36H	.	.	417	1097	8	0	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.009	N	0.672	N	1.04	L	0.19	T	-0.472	T	0.290	T	0.694	2.532	14.43	4.4	1.852	4.113	9.948	0.304	0.0214624748489	8e-05	0.00139776	0.0011	0	0	0	0	0.0003	0.0011	0.0066	0.0009767	151	154602	rs199583022	0.0005	0.0005	0.0003	0.0008	0.0062	0.0005	0.0005	0.0058	0.0056	0	6.708e-05	0.0014	0	3.747e-05	0.0014	0.0001	0.0007	0.0062	0.0004	0.0004	0.0003	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0	0	0	0.0012	0	0	0.0034	0.0002	0	0.0079	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.009473	0.30346	N	0.000000	0.671823	0.30357	N	.	.	.	0.11	0.61677	T	-5.0	0.82341	D	0.667	0.80669	-0.4716	0.69669	T	0.290	0.66192	T	10	0.010825038	0.00239	T	0.021462	0.44231	T	0.304	0.62510	.	.	0.564170363345	0.56080	0.227659367843968	0.22680	0.156486346246	0.17663	.	.	.	0.23071	0.59686	T	-0.223307	0.17545	T	-0.0907903	0.64103	T	0.130144280873542	0.15395	T	0.814119	0.47570	T	0.5399818	0.69395	0.6165812	0.77678	0.5399818	0.69396	0.6165812	0.77679	-9.844	0.73256	D	.	.	0.911	0.86137	P	.;.;.;.;.	.;.;.;.;.	3.594779	0.50741	23.0	0.99728549662743327	0.82619	0.89237	0.49581	D	AEFDBCIJ	0.595868	0.59025	D	0.237377923509716	0.53018	3.472727	0.143964371255361	0.46823	2.922082	0.99999999999488	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.615948	0.41167	0	0.586402	0.36253	0	.	.	4.4	4.4	0.52402	3.818000	0.55378	10.702000	0.83594	0.677000	0.82338	0.991000	0.37257	1.000000	0.68203	0.066000	0.16387	1.0:0.0:0.0:0.0	9.948	0.40791	.	.	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	822.98	40	chr10	49167001	.	A	G	822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.948;DP=801;ExcessHet=0.0000;FS=1.111;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.83;ReadPosRankSum=-2.520e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/1:21,31:52:99:837,0,497	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|2:62,0,22,0:84:99:0|1:50104141_G_C:216,399,2459,0,2059,1997,399,2459,2059,2459:50104141	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|2:62,0,22,0:84:99:0|1:50104141_G_C:216,399,2459,0,2059,1997,399,2459,2059,2459:50104141	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|1:61,22,0:83:99:0|1:50104141_G_C:218,0,1990,399,2053,2452:50104141	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|1:61,22,0:83:99:0|1:50104141_G_C:218,0,1990,399,2053,2452:50104141	10	0	2	7
chr10	72213285	72213285	C	T	exonic	ASCC1	.	nonsynonymous SNV	ASCC1:NM_001198798:exon2:c.G14A:p.R5H	Barrett esophagus/esophageal adenocarcinoma	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.982	D	0.000	D	1.000	D	2.16	M	2.17	T	0.170	D	0.568	D	0.714	4.768	26.8	5.36	2.657	4.294	17.213	0.183	0.0719611719894	.	.	3.298e-05	0	0	0	0	6e-05	0	0	2.59e-05	4	154602	rs751027189	8.217e-06	9.577e-06	6.814e-06	9.634e-06	0.0002	4.38e-06	3.46e-06	3.1e-06	2.24e-06	0	0	0	2.522e-05	0	0.0002	7.202e-06	3.314e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.016	0.91255	D	0.043	0.72224	D	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	0.999713	0.48481	D	2.435	0.70606	M	1.36	0.74371	T	-2.81	0.81350	D	0.709	0.71232	0.170	0.85404	D	0.568	0.84331	D	10	0.49412188	0.61165	T	0.071961	0.71408	D	0.183	0.45592	0.365	0.37199	0.91155186707	0.91066	0.584342477033977	0.58363	0.774521678833	0.64954	0.561922550201	0.47538	T	0.042121	0.45088	T	0.0633551	0.60034	T	0.022357	0.71782	D	0.975217819213867	0.70837	D	0.969903	0.89155	D	0.3248336	0.55044	0.20501535	0.44652	0.3248336	0.55044	0.20501535	0.44651	-9.04	0.67955	D	.	.	0.222	0.66208	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.608593	0.92513	32	0.99944703129828949	0.99886	0.89801	0.50504	D	AEFBI	0.760592	0.69856	D	0.72554509600811	0.81309	7.491615	0.702054133888203	0.82533	7.791024	0.99999999843401	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	4.559000	0.60505	7.544000	0.60141	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.213	0.86818	808	0.43318	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1159.98	42	chr10	72213285	.	C	T	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.230e-01;DP=871;ExcessHet=0.0000;FS=3.942;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.146;SOR=0.402	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1174,0,1060	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	0/1:57,40,0:97:99:.:.:937,0,1285,1108,1405,2513	11	2	6	0
chr10	73746863	73746863	C	T	exonic	SEC24C	.	nonsynonymous SNV	SEC24C:NM_198597:exon2:c.C31T:p.P11S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.155	B	0.127	B	0.012	N	1.000	D	0.83	L	-1.05	T	-0.597	T	0.317	T	0.259	2.895	15.65	4.9	2.753	2.118	17.629	0.156	0.0219502256734	7.7e-05	.	6.604e-05	0.0002	0	0	0	0	0.0011	0.0003	5.17e-05	8	154602	rs146510673	1.507e-05	1.505e-05	1.09e-05	1.928e-05	0.0002	9.87e-06	8.43e-06	0.0001	0.0001	0	0	0	2.527e-05	0	0	9.001e-07	3.315e-05	0.0002	1.971e-05	1.97e-05	1.284e-05	2.689e-05	7.234e-05	5.24e-06	2.45e-06	1.918e-05	1.032e-05	7.234e-05	0	0	0	0	0	0	0	0	0	0.203	0.20154	T	0.183	0.29153	T	0.155	0.28155	B	0.127	0.32738	B	0.012270	0.29231	N	0.411905	0.998973	0.81001	D	0.865	0.21413	L	-1.05	0.76690	T	-2.35	0.51968	N	0.203	0.22486	-0.5974	0.64923	T	0.317	0.68682	T	10	0.12895438	0.24534	T	0.02195	0.44785	T	0.156	0.40720	.	.	0.460791969852	0.45704	0.4355990136964781	0.43476	0.0117517464384	0.01108	0.388287931681	0.23428	T	0.198194	0.55510	T	-0.242198	0.15070	T	-0.289485	0.45826	T	0.0537927190608437	0.06154	T	0.742826	0.36203	T	0.15906781	0.35752	0.13984601	0.33353	0.15906781	0.35751	0.13984601	0.33352	-5.03	0.37164	T	.	.	0.069	0.03266	B	.;.	.;.	2.645206	0.34426	19.62	0.98877453700131457	0.47754	0.78169	0.38526	D	AEFDBI	0.204298	0.33075	N	0.0113165832537705	0.42370	2.551553	0.195910777634446	0.49622	3.16322	0.99999282809211	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.85	4.9	0.63643	1.920000	0.39655	4.958000	0.46324	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.8663:0.1337:0.0	17.629	0.88004	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1267.98	34	chr10	73746863	.	C	T	1267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.678;DP=814;ExcessHet=0.0000;FS=0.706;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=-3.300e-02;SOR=0.780	GT:AD:DP:GQ:PL	0/1:66,51:117:99:1282,0,1632	20	0	1	0
chr10	73911598	73911598	G	T	exonic	PLAU	.	nonsynonymous SNV	PLAU:NM_002658:exon2:c.G43T:p.V15L,	Quebec platelet disorder, Autosomal dominant	.	1	1409	105	7	0	119	0.0405175	.	.	316280	Quebec_platelet_disorder	MONDO:MONDO:0011136,MedGen:C1866423,OMIM:601709,Orphanet:220436	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.49	T	0.053	B	0.019	B	0.005	N	0.995	N	0.6	N	-2.24	D	-0.853	T	0.232	T	0.074	1.463	10.84	2.75	0.829	1.279	10.072	0.102	.	0.0078	0.00738818	0.0115	0.0017	0.0058	0	0.0069	0.0120	0.0154	0.0279	0.010375	1604	154602	rs2227580	0.0087	0.0087	0.0077	0.0097	0.0501	0.0086	0.0085	0.0454	0.0435	0.0019	0.0067	0.0185	0	0.0068	0.0501	0.0073	0.0104	0.0281	0.0076	0.0077	0.0079	0.0074	0.0236	0.0073	0.0071	0.0201	0.0188	0.0019	0	0.0061	0.0181	0	0.0047	0.0578	0.0107	0.0123	0.0236	0.322	0.13479	T	0.0	0.92824	D	.	.	.	.	.	.	0.004663	0.33505	N	0.182175	1	0.23414	N	.	.	.	-2.24	0.87194	D	-0.07	0.08033	N	0.051	0.02272	-0.8534	0.51732	T	0.232	0.59867	T	10	0.0038291514	0.00072	T	.	.	.	0.102	0.29158	0.117	0.02508	.	.	0.5124656367934278	0.51168	0.27678225461	0.30148	0.449435532093	0.31867	T	.	.	.	-0.447549	0.01167	T	-0.396052	0.33845	T	0.00947673903922724	0.00122	T	0.487251	0.14908	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27583	B	.;.	.;.	1.692782	0.21567	15.25	0.89963582726528479	0.19259	0.15746	0.19061	N	ALL	0.088594	0.17960	N	-0.679747109664984	0.16599	0.8471829	-0.602636444368169	0.19425	1.042126	0.999999986212794	0.74766	0.789315	0.99827	0	0.552344	0.17405	0	0.768056	0.98339	0	0.56214	0.19341	0	.	.	5.98	2.75	0.31439	0.995000	0.29307	1.024000	0.23428	0.662000	0.56354	0.504000	0.26986	0.441000	0.24904	0.058000	0.15825	0.0:0.2474:0.6074:0.1452	10.072	0.41510	394	0.83065	.;.	MSS51|DUSP8P5|KAT6B	Minor_Salivary_Gland|Testis|Thyroid	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2874.11	34	chr10	73911598	.	G	T	2874.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.68;DP=923;ExcessHet=0.1072;FS=0.479;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-7.930e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1368,0,1599	19	0	2	0
chr10	89738611	89738611	C	G	exonic	KIF20B	.	nonsynonymous SNV	KIF20B:NM_001382506:exon19:c.C3557G:p.T1186R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.846	P	0.387	B	0.990	N	1.000	N	1.5	L	-0.35	T	-0.816	T	0.228	T	0.241	1.257	10.10	-0.998	-0.083	-0.738	10.728	0.186	0.0531493065097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.121	0.35840	T	0.846	0.46778	P	0.387	0.44046	B	0.990300	0.08035	N	0.995188	1	0.08975	N	1.845	0.48678	L	-0.35	0.68616	T	-1.93	0.44852	N	0.182	0.19728	-0.8159	0.54189	T	0.228	0.59321	T	10	0.11608195	0.21888	T	0.053149	0.65352	D	0.186	0.46104	0.098	0.01383	0.517377062552	0.51381	0.36108062739621166	0.36022	0.100780147641	0.11386	0.281747639179	0.07738	T	0.021136	0.16515	T	-0.0953548	0.37191	T	-0.374747	0.36335	T	0.38256973028183	0.28281	T	0.728327	0.34315	T	0.0702547	0.15460	0.10299301	0.24700	0.0702547	0.15459	0.10299301	0.24699	-4.857	0.35814	T	.	.	0.096	0.24666	B	.;.	.;.	1.258617	0.16560	12.62	0.96742424189953036	0.30928	0.09727	0.15418	N	AEFGBI	0.084699	0.17166	N	-0.43496504982171	0.24253	1.308233	-0.528119772854305	0.21391	1.156957	0.999913737919209	0.45857	0.732398	0.92422	0	0.658105	0.61773	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.82	-0.998	0.09690	-0.677000	0.05315	-0.290000	0.10200	0.549000	0.26987	0.004000	0.16614	0.059000	0.21998	0.971000	0.54645	0.0:0.36:0.0:0.64	10.728	0.45279	481	0.77356	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	286.98	36	chr10	89738611	.	C	G	286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.360e-01;DP=660;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=0.178;SOR=0.919	GT:AD:DP:GQ:PL	0/1:12,9:21:99:301,0,373	20	0	1	0
chr10	94357291	94357291	T	C	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon4:c.A391G:p.I131V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.013	B	0.007	B	0.000	D	1.000	D	0.55	N	2.8	T	-1.021	T	0.019	T	0.067	0.780	8.115	5.05	2.013	3.622	15.092	0.061	0.00522081485096	.	.	1.669e-05	0	0	0	0	3.036e-05	0	0	1.29e-05	2	154602	rs748758791	4.821e-06	5.472e-06	5.48e-06	4.155e-06	7.147e-05	2.01e-06	1.29e-06	3.063e-05	2.083e-05	0	0	0	0	0	0	0	1.668e-05	7.147e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	0.46	0.12597	T	0.013	0.16609	B	0.007	0.12992	B	0.000053	0.53742	D	0.173732	0.888493	0.35900	D	1.655	0.42436	L	2.8	0.11082	T	0.07	0.06138	N	0.321	0.36148	-1.0209	0.23421	T	0.019	0.08079	T	10	0.068308085	0.09642	T	0.005221	0.13310	T	0.061	0.17616	0.305	0.27485	0.220303561663	0.21668	0.053760521104757555	0.05318	0.0644950670279	0.07196	0.546593546867	0.45376	T	0.011966	0.10596	T	-0.377998	0.03207	T	-0.675459	0.07263	T	0.171227559447289	0.18663	T	0.781422	0.41649	T	0.027766254	0.02015	0.047985304	0.07030	0.027766254	0.02015	0.047985304	0.07030	-2.645	0.06853	T	.	.	0.073	0.04764	B	.	.	1.638973	0.20919	14.97	0.93047234379616517	0.22653	0.90175	0.51147	D	AEDGBI	0.279521	0.39355	N	-0.274208709181526	0.30147	1.678316	-0.0659265928633461	0.36808	2.14691	0.998769910276213	0.37623	0.732398	0.92422	0	0.688494	0.66719	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.05	5.05	0.67566	3.611000	0.53881	6.166000	0.54416	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.0:1.0	15.092	0.71871	411	0.82069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	34	chr10	94357291	.	T	C	831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.916;DP=770;ExcessHet=0.0000;FS=2.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=0.589;SOR=0.446	GT:AD:DP:GQ:PL	0/1:23,32:55:99:846,0,538	20	0	1	0
chr10	101006630	101006630	G	C	exonic	LZTS2	.	nonsynonymous SNV	LZTS2:NM_001318101:exon3:c.G812C:p.R271P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.637	P	0.661	P	0.003	N	0.996	D	1.845	L	0.86	T	-0.802	T	0.181	T	0.731	3.176	16.63	4.76	1.367	1.767	6.124	0.219	0.0241636689935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.089	0.40426	T	0.637	0.40341	P	0.661	0.52837	P	0.002872	0.35804	N	0.279986	0.995959	0.42940	D	2.28	0.64929	M	0.86	0.46777	T	-3.15	0.64132	D	0.522	0.55540	-0.8016	0.55050	T	0.181	0.52752	T	10	0.49352574	0.61132	T	0.024164	0.47155	T	0.219	0.51417	0.515	0.61459	0.541252434104	0.53778	0.6785592402222832	0.67794	0.630294044216	0.57025	0.768734931946	0.77236	T	0.253592	0.62413	T	0.0336755	0.56213	T	-0.189404	0.55647	T	0.971785962581635	0.69448	D	0.747925	0.36851	T	0.7248602	0.79433	0.5520138	0.74095	0.7248602	0.79435	0.5520138	0.74095	-9.023	0.67845	D	.	.	0.451	0.63324	A	.;.	.;.	4.836379	0.78912	27.0	0.9919358222753053	0.55053	0.68527	0.33836	D	AEFBCIJ	0.656017	0.62815	D	0.167136313076938	0.49627	3.16092	0.164001474008249	0.47887	3.012413	0.999998381761563	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.67	4.76	0.60189	1.799000	0.38459	7.570000	0.60688	0.590000	0.31872	0.625000	0.27956	1.000000	0.68203	0.812000	0.38265	0.1531:0.1641:0.6828:0.0	6.124	0.19387	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	488.98	33	chr10	101006630	.	G	C	488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.293;DP=706;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=0.295;SOR=0.693	GT:AD:DP:GQ:PL	0/1:24,20:44:99:503,0,617	20	0	1	0
chr10	102139902	102139902	A	G	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.A1394G:p.K465R	.	.	415	1104	3	0	0	3	0.00135685	.	.	2809565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.617	P	0.242	B	0.113	N	1.000	D	0.895	L	1.55	T	-0.978	T	0.046	T	0.174	3.577	18.22	6.03	2.313	1.856	13.944	0.057	.	0.0052	0.00279553	0.0063	0.0005	0.0023	0	0.0113	0.0095	0.0088	0.0012	0.0058149	899	154602	rs61756436	0.0053	0.0053	0.0052	0.0054	0.0052	0.0052	0.0052	0.0051	0.0050	0.0005	0.0029	0.0296	0	0.0106	0.0038	0.0052	0.0060	0.0014	0.0058	0.0058	0.0058	0.0059	0.0080	0.0055	0.0054	0.0075	0.0072	0.0005	0.0033	0.0052	0.0366	0	0.0095	0	0.0080	0.0028	0.0012	0.004	0.65419	D	0.51	0.11299	T	0.483	0.36807	P	0.122	0.32387	B	0.112743	0.19344	N	0.555807	0.524757	0.31926	D	1.935	0.51832	L	1.55	0.29866	T	-0.73	0.20791	N	0.266	0.32481	-0.9777	0.35526	T	0.046	0.19599	T	10	0.0038530827	0.00073	T	.	.	.	0.057	0.16321	.	.	0.228066490088	0.22430	0.14898548926819152	0.14820	0.418664140437	0.42450	0.354502290487	0.18583	T	0.025761	0.44249	T	-0.535209	0.00358	T	-0.530536	0.19234	T	0.0282199987662836	0.01721	T	0.765223	0.64303	T	0.047443926	0.08111	0.06065851	0.11588	0.047443926	0.08110	0.06065851	0.11587	-3.832	0.21283	T	.	.	0.102	0.18080	B	.;.	.;.	3.006349	0.40184	21.1	0.99839227255156981	0.91972	0.89366	0.49787	D	AEFBCI	0.144915	0.26799	N	0.107298536175235	0.46803	2.915139	0.257380969972674	0.53071	3.477898	0.998252898129082	0.36648	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	1.617000	0.36554	4.758000	0.44698	-0.050000	0.17177	0.986000	0.36153	1.000000	0.68203	0.587000	0.31065	1.0:0.0:0.0:0.0	13.944	0.63580	666	0.61362	.;.	.	.	.	.	rs61756436	Uncertain significance	0	0	0	0	0	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	1282.98	35	chr10	102139902	.	A	G	1282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.211e+00;DP=772;ExcessHet=0.0000;FS=3.066;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.11;ReadPosRankSum=0.112;SOR=0.427	GT:AD:DP:GQ:PL	0/1:33,42:75:99:1297,0,958	20	0	1	0
chr10	102451044	102451067	GGCGGCGGCCAGACGCCCTGTTTG	-	exonic	C10orf95	.	nonframeshift deletion	C10orf95:NM_001363580:exon2:c.27_50del:p.K10_P17del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.265e-05	0	0	0	0	2.178e-05	0	0	3.84e-05	1	26028	rs769127436	2.155e-05	2.805e-05	2.252e-05	2.053e-05	0.0002	1.499e-05	1.274e-05	1.324e-05	1.076e-05	3.904e-05	0	0	0	3.048e-05	0.0002	2.027e-05	4.113e-05	2.474e-05	2.628e-05	2.627e-05	5.138e-05	0	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1031.94	33	chr10	102451043	.	CGGCGGCGGCCAGACGCCCTGTTTG	C	1031.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.738e+00;DP=796;ExcessHet=0.0000;FS=1.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.00;ReadPosRankSum=-4.350e-01;SOR=0.998	GT:AD:DP:GQ:PL	0/1:17,26:43:99:1046,0,625	20	0	1	0
chr10	103458592	103458592	C	T	exonic	CALHM1	.	nonsynonymous SNV	CALHM1:NM_001001412:exon1:c.G160A:p.A54T,	.	.	.	.	.	.	.	.	.	.	.	3424423	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.489	P	0.033	B	0.025	N	1.000	N	0.69	N	2.3	T	-1.010	T	0.014	T	0.184	1.051	9.293	2.71	0.302	1.454	5.534	0.028	0.00754379677224	0.0002	0.000399361	0.0002	9.748e-05	0.0002	0.0002	0	0.0003	0	0	0.0001552	24	154602	rs140666030	9.442e-05	9.44e-05	0.0001	8.802e-05	0.0002	8.136e-05	7.652e-05	6.784e-05	6.283e-05	2.987e-05	0.0001	0.0008	5.038e-05	0	0.0002	8.183e-05	0.0002	4.637e-05	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.231e-05	0.0001	9.898e-05	0	0	0.0002	0.0012	0.0002	0	0	0.0002	0	0.0004	0.009	0.57480	D	0.05	0.48080	T	0.489	0.36925	P	0.033	0.22329	B	0.025103	0.26146	N	0.452396	1	0.08975	N	0.69	0.16971	N	2.3	0.16953	T	-0.2	0.10136	N	0.102	0.08506	-1.0096	0.27043	T	0.014	0.05753	T	10	0.015043795	0.00316	T	0.007544	0.20006	T	0.028	0.06331	.	.	0.0401082797425	0.02173	0.5772696737336218	0.57655	0.162474102853	0.18328	0.354660302401	0.18606	T	0.019118	0.15291	T	-0.445364	0.01203	T	-0.613082	0.11735	T	0.0203414536268486	0.00734	T	0.680832	0.28956	T	0.046775248	0.07884	0.07383741	0.16088	0.046775248	0.07884	0.07383741	0.16088	-3.774	0.20417	T	0.125773117771601	0.12574	0.101	0.17402	B	.	.	1.755477	0.22329	15.58	0.97003330117518338	0.31953	0.16047	0.19206	N	AEFDBCI	0.083459	0.16908	N	-0.812883290798814	0.12981	0.6363617	-0.816156378132755	0.14104	0.7352377	0.999503334169801	0.40062	0.615755	0.39536	0	0.588066	0.40923	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	5.56	2.71	0.31092	1.500000	0.35290	0.386000	0.17834	-0.266000	0.06809	0.458000	0.26628	0.000000	0.08366	0.009000	0.08673	0.0:0.4786:0.2913:0.2301	5.534	0.16292	268	0.89479	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1015.98	90	chr10	103458592	.	C	T	1015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.80;DP=1961;ExcessHet=0.0000;FS=13.412;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=0.947;SOR=1.170	GT:AD:DP:GQ:PL	0/1:43,38:81:99:1030,0,1011	20	0	1	0
chr10	103627176	103627176	C	T	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_001365079:exon3:c.G274A:p.E92K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.997	D	0.000	D	1.000	D	0.705	N	0.93	T	-0.887	T	0.187	T	0.786	5.733	36	5.33	2.503	5.710	17.793	0.072	0.0378397767145	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179938628	2.055e-06	2.052e-06	2.727e-06	1.377e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.007e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.23095	T	0.008	0.67890	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.705	0.18577	N	0.93	0.44065	T	-3.05	0.62976	D	0.814	0.80964	-0.8866	0.49223	T	0.187	0.53722	T	10	0.79042137	0.78611	D	0.03784	0.57860	D	0.342	0.66392	0.53	0.63707	0.57334081109	0.57001	0.6557515014627731	0.65511	1.14165798427	0.78952	0.801444590092	0.82183	T	0.044918	0.26964	T	-0.00795836	0.50551	T	-0.152354	0.59034	T	0.968521773815155	0.68273	D	0.932307	0.95630	D	0.5001987	0.67106	0.40109682	0.64628	0.5001987	0.67107	0.40109682	0.64628	-6.631	0.56117	T	.	.	0.641	0.70552	P	.;.	.;.	5.123554	0.85707	28.7	0.9994017620265192	0.99767	0.91845	0.54387	D	AEFBHCI	0.788340	0.71786	D	0.295981180293545	0.55944	3.758595	0.412248235433343	0.62325	4.446285	0.999999999999969	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	5.33	5.33	0.75683	6.124000	0.71349	7.638000	0.63056	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.793	0.88471	89	0.96298	SH3 domain|SH3 domain|SH3 domain|SH3PXD2A, SH3 domain 1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	951.98	33	chr10	103627176	.	C	T	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=779;ExcessHet=0.0000;FS=0.820;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=0.178;SOR=0.558	GT:AD:DP:GQ:PL	0/1:46,40:86:99:966,0,1087	20	0	1	0
chr10	104057122	104057122	C	T	exonic	COL17A1	.	nonsynonymous SNV	COL17A1:NM_000494:exon17:c.G1318A:p.G440S,	Epidermolysis bullosa, junctional, localisata variant, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epithelial recurrent erosion dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	865375	Junctional_epidermolysis_bullosa,_non-Herlitz_type	MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.014	B	0.002	B	0.939	N	1.000	N	1.61	L	0.89	T	-0.960	T	0.115	T	0.275	1.554	11.15	2.45	0.013	0.571	12.339	0.089	0.0145993442105	0.0002	0.000599042	0.0001	0	0	0.0007	0	0.0001	0	0	0.00011	17	154602	rs139463731	0.0001	0.0001	0.0001	0.0001	0.0004	9.235e-05	8.698e-05	0.0002	0.0002	3.435e-05	0	0.0001	0.0004	0	0.0002	0.0001	0.0002	0	0.0001	0.0001	0.0002	6.959e-05	0.0015	7.851e-05	6.507e-05	0.0008	0.0006	5.519e-05	0	0	0	0.0015	0	0	0.0001	0	0	0.004	0.65419	D	0.033	0.53072	D	0.002	0.16867	B	0.002	0.06944	B	0.938978	0.07582	N	1.039460	1	0.08975	N	0.55	0.14455	N	0.89	0.45636	T	-1.28	0.39503	N	0.228	0.27077	-0.9598	0.39218	T	0.115	0.40853	T	10	0.008690417	0.00197	T	0.014599	0.34823	T	0.089	0.25827	.	.	0.180583059064	0.17676	0.3921376840144152	0.39128	0.0659250797848	0.07352	0.33133020997	0.15136	T	0.31357	0.68531	T	-0.45717	0.01024	T	-0.57446	0.15043	T	0.0462331531334163	0.04826	T	0.381062	0.12628	T	0.046903074	0.07928	0.071208246	0.15221	0.046903074	0.07928	0.071208246	0.15221	-5.81	0.44661	T	.	.	0.093	0.14201	B	.;.;.;.	.;.;.;.	0.250037	0.06296	2.752	0.72383559144225651	0.09954	0.04414	0.10004	N	AEFBCI	0.039817	0.05836	N	-1.52682657942556	0.01675	0.07328486	-1.53931677527008	0.02050	0.0937324	0.995665256709419	0.34254	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.33	2.45	0.28953	-0.208000	0.09375	0.085000	0.14440	-1.617000	0.00873	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.8659:0.0:0.1341	12.339	0.54411	48	0.97687	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	511.98	39	chr10	104057122	.	C	T	511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=949;ExcessHet=0.0000;FS=4.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.989;SOR=1.297	GT:AD:DP:GQ:PL	0/1:29,22:51:99:526,0,654	20	0	1	0
chr10	110799866	110799866	G	A	exonic	RBM20	.	nonsynonymous SNV	RBM20:NM_001134363:exon7:c.G1748A:p.G583D,	Cardiomyopathy, dilated, 1DD, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	198203	not_provided|Cardiomyopathy|Dilated_cardiomyopathy_1DD|Cardiovascular_phenotype	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0013168,MedGen:C2750995,OMIM:613172,Orphanet:154|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	0.129	B	0.174	B	0.042	N	0.995	D	1.115	L	-1.5	D	-0.582	T	0.327	T	0.425	2.312	13.69	4.27	2.591	4.789	5.512	0.403	0.0180794661642	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs767827357	2.715e-05	2.599e-05	2.678e-05	2.752e-05	0.0002	2.018e-05	1.767e-05	3.809e-05	2.257e-05	3.165e-05	0.0001	0	0	0	0.0002	2.688e-05	5.16e-05	0	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.444	0.09155	T	1.0	0.01155	T	.	.	.	.	.	.	0.041758	0.23916	N	0.426761	0.994764	0.42407	D	.	.	.	-1.5	0.81318	D	-2.77	0.58733	D	0.277	0.31365	-0.5822	0.65530	T	0.327	0.69487	T	10	0.18673912	0.34152	T	0.018079	0.40021	T	0.403	0.71636	.	.	0.578489777024	0.57519	0.6028542314243824	0.60216	.	.	0.595799028873	0.52311	T	.	.	.	-0.152634	0.27900	T	-0.220356	0.52704	T	0.26274561882019	0.23434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.34558	B	.	.	3.019489	0.40410	21.2	0.99023122047209533	0.50634	0.85210	0.44323	D	AEFBI	0.290836	0.40212	N	0.0816006958583592	0.45606	2.814261	0.236832013952499	0.51903	3.369004	0.999998766040178	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.19	4.27	0.50009	4.898000	0.62925	9.890000	0.82266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2803:0.0:0.7197:0.0	5.512	0.16174	916	0.20744	.	.	.	.	.	.	Uncertain significance	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	1641.98	40	chr10	110799866	.	G	A	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.020e-01;DP=934;ExcessHet=0.0000;FS=3.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-1.890e+00;SOR=0.518	GT:AD:DP:GQ:PL	0/1:57,69:126:99:1656,0,1354	20	0	1	0
chr10	114289393	114289393	-	GGAGGCTTG	exonic	VWA2	.	nonframeshift insertion	VWA2:NM_001272046:exon12:c.2026_2027insGGAGGCTTG:p.L678_A679insGRL	.	.	431	1085	6	0	0	6	0.00275735	.	.	3199472	VWA2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0068	0.00259585	0.0058	0.0011	0.0089	0	0.0006	0.0080	0.0066	0.0025	0.0018442	48	26028	rs553439419	0.0080	0.0080	0.0082	0.0077	0.0093	0.0078	0.0078	0.0090	0.0090	0.0010	0.0093	0.0043	0	0.0009	0.0073	0.0092	0.0089	0.0031	0.0062	0.0062	0.0062	0.0062	0.0111	0.0058	0.0057	0.0097	0.0092	0.0016	0.0066	0.0111	0.0046	0	0.0004	0	0.0095	0.0114	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1710.94	38	chr10	114289393	.	C	CGGAGGCTTG	1710.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=824;ExcessHet=0.0000;FS=1.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.41;ReadPosRankSum=1.49;SOR=0.897	GT:AD:DP:GQ:PL	0/1:65,46:111:99:1725,0,2538	20	0	1	0
chr10	119796747	119796747	G	A	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_014937:exon7:c.G702A:p.M234I,	.	.	425	1086	10	1	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.002	N	1.000	D	-1.955	N	0.61	T	-0.959	T	0.011	T	0.052	-0.038	3.821	-0.228	-0.331	-0.001	7.779	0.074	.	0.0076	0.00319489	0.0062	0.0019	0.0041	0.0001	0.0042	0.0095	0.0077	0.0009	0.0062871	972	154602	rs34239637	0.0082	0.0083	0.0084	0.0080	0.0098	0.0081	0.0081	0.0096	0.0095	0.0014	0.0049	0.0043	0	0.0036	0.0043	0.0098	0.0079	0.0012	0.0064	0.0064	0.0069	0.0058	0.0103	0.0060	0.0059	0.0097	0.0094	0.0019	0.0055	0.0086	0.0046	0	0.0017	0.0136	0.0103	0.0062	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001898	0.37740	N	0.316403	0.502122	0.31750	D	-1.86	0.00260	N	0.61	0.53516	T	2.06	0.00379	N	0.247	0.27910	-0.9588	0.39405	T	0.011	0.04321	T	10	0.005298704	0.00116	T	.	.	.	0.074	0.21613	0.435	0.48664	0.0986583533028	0.09354	0.24951003347931272	0.24865	0.140751882377	0.15877	0.473517119884	0.35165	T	0.140908	0.47570	T	-0.638141	0.00085	T	-0.679034	0.07043	T	0.000663455303258933	0.00006	T	0.808019	0.56350	T	0.043542735	0.06805	0.0601865	0.11420	0.043542735	0.06805	0.0601865	0.11419	0.555	0.00202	T	.	.	0.099	0.16494	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.054691	0.04672	1.321	0.65318453901849693	0.07739	0.68304	0.33751	D	AEFDBI	0.076075	0.15296	N	-1.15945336700963	0.05626	0.2569728	-0.888584798854169	0.12364	0.635556	6.53460180504768E-4	0.07551	0.706298	0.61202	0	0.653731	0.59785	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.8	-0.228	0.12452	0.015000	0.13250	-1.643000	0.05000	-0.140000	0.12423	0.929000	0.32243	0.000000	0.08366	0.995000	0.73285	0.0:0.6238:0.1517:0.2245	7.779	0.28216	454	0.79125	SAC domain|SAC domain;.;SAC domain|SAC domain;.;.;.;.	.	.	.	.	rs34239637	Likely benign	0	0	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	1162.98	33	chr10	119796747	.	G	A	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.180e-01;DP=808;ExcessHet=0.0000;FS=3.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=0.545;SOR=1.030	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1177,0,1492	20	0	1	0
chr10	119898750	119898750	C	G	exonic	SEC23IP	.	nonsynonymous SNV	SEC23IP:NM_007190:exon2:c.C487G:p.L163V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.104	B	0.062	B	0.000	D	1.000	D	1.61	L	-4.25	D	0.479	D	0.815	D	0.101	0.944	8.847	4.65	1.342	3.173	14.037	0.336	0.120769286184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03e-05	0.0002	1.093e-05	9.654e-06	1.174e-05	6.18e-06	4.9e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	3.32e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.06461	T	0.821	0.12246	T	0.104	0.25941	B	0.062	0.26930	B	0.000005	0.62929	D	0.107180	1	0.81001	D	1.78	0.46185	L	-4.25	0.97054	D	0.01	0.06868	N	0.207	0.22998	0.479	0.90252	D	0.815	0.93762	D	10	0.15099514	0.28548	T	0.120769	0.80138	D	0.336	0.65816	0.186	0.09517	0.849074084723	0.84762	0.11778504863915601	0.11705	0.144110295782	0.16271	0.353825509548	0.18484	T	0.091547	0.38818	T	0.043976	0.57564	T	-0.174608	0.57021	T	0.556831955909729	0.34735	D	0.738826	0.35731	T	0.14919165	0.34025	0.09147891	0.21510	0.14919165	0.34024	0.09147891	0.21510	-3.167	0.12082	T	.	.	0.071	0.05274	B	.;.	.;.	1.155811	0.15440	11.85	0.95415677836796886	0.26887	0.98451	0.82913	D	AEFGBI	0.532298	0.55222	D	-0.292483383673774	0.29436	1.632456	-0.16913862766753	0.32679	1.861587	0.999999898467037	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	4.65	0.57626	2.670000	0.46499	2.509000	0.33065	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.518000	0.29429	0.0:0.9277:0.0:0.0723	14.037	0.64172	631	0.64944	.;.	.	.	.	.	.	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	44.77	122	chr10	119898750	.	C	G	44.77	.	AC=2;AF=0.100;AN=20;BaseQRankSum=-4.517e+00;DP=2787;ExcessHet=0.1072;FS=257.260;InbreedingCoeff=-0.2250;MLEAC=3;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=0.497;SOR=10.061	GT:AD:DP:GQ:PL	0/1:125,41:166:42:42,0,2586	8	0	2	11
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	0/1:76,24:106:12:12,0,1457	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	1/2:0,30,109,0:144:99:.:.:5489,4015,3729,1127,0,978,5485,4019,1124,5485	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	1/2:0,30,109,0:144:99:.:.:5489,4015,3729,1127,0,978,5485,4019,1124,5485	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|1:95,33:128:99:0|1:124989533_G_A:1043,0,3824:124989533	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	0/1:107,23:130:99:383,0,3633	1	0	20	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H	.	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.48	M	-1.64	D	0.598	D	0.722	D	0.666	4.396	23.3	5.36	2.030	7.698	15.357	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7883.4	152	chr10	124994489	.	T	G	7883.4	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.91;DP=3256;ExcessHet=54.0936;FS=22.490;InbreedingCoeff=-0.9843;MLEAC=21;MLEAF=0.500;MQ=58.49;MQRankSum=-7.468e+00;QD=2.53;ReadPosRankSum=-3.768e+00;SOR=2.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,16:167:99:0|1:124994489_T_G:217,0,6223:124994489	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|1:153,21:174:99:0|1:124994489_T_G:421,0,6321:124994489	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|1:154,21:175:99:0|1:124994489_T_G:418,0,6315:124994489	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|1:163,27:190:99:0|1:124994523_G_A:596,0,6635:124994523	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	0/1:153,29:182:99:317,0,4344	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	0/1:163,34:197:99:288,0,4767	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|1:174,39:213:99:0|1:124994577_C_A:1053,0,7068:124994577	0	0	21	0
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M	.	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.328	B	0.722	P	0.000	D	1.000	D	1.225	L	0.49	T	-0.750	T	0.204	T	0.848	1.968	12.54	-0.385	0.050	-0.041	9.404	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1786	1287.27	108	chr10	125003006	.	TATCC	CATCC,T	1287.27	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.008e+00;DP=2685;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2572;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.16;MQRankSum=-5.258e+00;QD=2.83;ReadPosRankSum=0.793;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,9,0:78:99:.:.:157,0,2860,370,2890,3310	9	0	4	7
chr10	125003007	125003010	ATCC	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon3:c.512_515del:p.R171Qfs*155	.	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	1287.27	108	chr10	125003006	.	TATCC	CATCC,T	1287.27	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.008e+00;DP=2685;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2572;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.16;MQRankSum=-5.258e+00;QD=2.83;ReadPosRankSum=0.793;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,9,0:78:99:.:.:157,0,2860,370,2890,3310	9	0	4	7
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V	.	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.269	B	0.279	B	0.000	D	1.000	D	0.59	N	0.75	T	-0.924	T	0.114	T	0.644	1.971	12.55	4.94	1.998	8.040	14.902	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	504.44	107	chr10	125003008	.	T	C,*	504.44	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.114e+00;DP=2666;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2600;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.08;MQRankSum=-5.258e+00;QD=1.11;ReadPosRankSum=1.08;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,9,0:78:99:0|1:125003008_T_C:157,0,2860,367,2887,3265:125003008	9	0	4	7
chr10	125003008	125003008	T	0	exonic	CTBP2	.	.	.	.	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	504.44	107	chr10	125003008	.	T	C,*	504.44	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.114e+00;DP=2666;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2600;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.08;MQRankSum=-5.258e+00;QD=1.11;ReadPosRankSum=1.08;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,9,0:78:99:0|1:125003008_T_C:157,0,2860,367,2887,3265:125003008	9	0	4	7
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.955	D	0.000	D	1.000	D	2.595	M	0.74	T	-0.368	T	0.302	T	0.95	3.888	19.76	4.04	1.230	7.818	13.592	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	517.97	102	chr10	125003010	.	C	T,*	517.97	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=-1.274e+00;DP=2706;ExcessHet=1.7912;FS=3.146;InbreedingCoeff=-0.2869;MLEAC=6,1;MLEAF=0.214,0.036;MQ=57.13;MQRankSum=-5.988e+00;QD=0.93;ReadPosRankSum=0.743;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,9,0:78:99:0|1:125003008_T_C:157,0,2860,367,2887,3265:125003008	8	0	5	7
chr10	125003010	125003010	C	0	exonic	CTBP2	.	.	.	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	517.97	102	chr10	125003010	.	C	T,*	517.97	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=-1.274e+00;DP=2706;ExcessHet=1.7912;FS=3.146;InbreedingCoeff=-0.2869;MLEAC=6,1;MLEAF=0.214,0.036;MQ=57.13;MQRankSum=-5.988e+00;QD=0.93;ReadPosRankSum=0.743;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,9,0:78:99:0|1:125003008_T_C:157,0,2860,367,2887,3265:125003008	8	0	5	7
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N	.	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.986	D	0.89	P	0.000	N	1.000	D	1.515	L	0.72	T	-0.828	T	0.177	T	0.518	2.828	15.42	4.03	1.204	2.555	6.007	0.295	0.0466189854146	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201760950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.43708	D	0.12	0.58089	T	0.986	0.61523	D	0.89	0.63157	P	0.000000	0.84330	N	0.042861	0.999994	0.58761	D	1.115	0.28702	L	0.72	0.50976	T	-4.42	0.80425	D	0.797	0.79696	-0.8284	0.53403	T	0.177	0.52272	T	10	0.7330282	0.74429	D	0.046619	0.62540	D	0.295	0.61502	0.506	0.60078	0.669401567584	0.66661	0.9683590239784833	0.96823	1.29775370337	0.82942	0.700282335281	0.67184	T	0.552971	0.84897	D	-0.0504497	0.44379	T	-0.310244	0.43632	T	0.989160597324371	0.79417	D	0.748325	0.36895	T	0.7315896	0.79813	0.47296822	0.69449	0.7315896	0.79814	0.47296822	0.69450	-15.293	0.98237	D	.	.	0.987	0.92764	P	.;.;.;.;.;.	.;.;.;.;.;.	4.828208	0.78704	27.0	0.99659729855249335	0.77883	0.88851	0.48981	D	AEFDGBCI	0.619890	0.60515	D	0.116058801363205	0.47212	2.950075	0.0734135689233688	0.43216	2.628043	0.999999959797154	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.03	0.46115	2.713000	0.46862	1.753000	0.28490	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1568:0.6905:0.0:0.1528	6.007	0.18780	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	1327.89	96	chr10	125003036	.	C	A	1327.89	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-2.315e+00;DP=2688;ExcessHet=1.1607;FS=7.390;InbreedingCoeff=-0.2539;MLEAC=7;MLEAF=0.250;MQ=56.90;MQRankSum=-6.218e+00;QD=2.82;ReadPosRankSum=1.58;SOR=1.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,11:88:99:0|1:125003036_C_A:109,0,3126:125003036	9	0	5	7
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S	.	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.041	B	0.069	B	0.000	N	0.999	D	1.21	L	-1.93	D	-0.330	T	0.453	T	0.622	2.408	14.01	3.79	0.824	5.018	11.226	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1345.64	103	chr10	125003062	.	T	A	1345.64	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-1.762e+00;DP=2793;ExcessHet=1.7912;FS=10.332;InbreedingCoeff=-0.3044;MLEAC=8;MLEAF=0.286;MQ=57.06;MQRankSum=-6.687e+00;QD=2.31;ReadPosRankSum=1.25;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,11:94:99:0|1:125003062_T_A:131,0,3452:125003062	8	0	6	7
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F	.	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.972	D	0.946	D	0.000	N	1.000	D	1.455	L	0.6	T	-0.651	T	0.246	T	0.862	4.563	24.7	3.79	0.824	8.033	11.226	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1343.45	102	chr10	125003065	.	T	A	1343.45	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-1.729e+00;DP=2798;ExcessHet=1.7912;FS=10.427;InbreedingCoeff=-0.3097;MLEAC=8;MLEAF=0.286;MQ=57.07;MQRankSum=-6.630e+00;QD=2.30;ReadPosRankSum=1.20;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,11:95:99:0|1:125003062_T_A:128,0,3474:125003062	8	0	6	7
chr10	127444196	127444196	C	T	exonic	DOCK1	.	nonsynonymous SNV	DOCK1:NM_001377560:exon42:c.C4475T:p.S1492L	.	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.994	D	0.921	D	0.000	D	1.000	D	1.78	L	3.83	T	-1.070	T	0.017	T	0.801	4.295	22.5	4.72	2.456	7.048	17.896	0.220	.	0.0056	0.00479233	0.0100	0.0021	0.0065	0	0.0130	0.0143	0.0035	0.0034	0.0065588	1014	154602	rs41314432	0.0074	0.0074	0.0076	0.0072	0.0081	0.0073	0.0072	0.0080	0.0079	0.0011	0.0046	0.0102	2.544e-05	0.0116	0.0042	0.0081	0.0061	0.0030	0.0056	0.0056	0.0056	0.0056	0.0075	0.0053	0.0052	0.0070	0.0068	0.0016	0	0.0056	0.0144	0	0.0103	0	0.0075	0.0071	0.0029	0.12	0.27904	T	0.016	0.60972	D	0.994	0.66517	D	0.921	0.65636	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.855	0.82945	M	3.83	0.03702	T	-1.47	0.35991	N	0.686	0.69213	-1.0701	0.09391	T	0.017	0.06855	T	10	0.007295072	0.00166	T	.	.	.	0.220	0.51569	.	.	0.808986398115	0.80719	0.42786952484670565	0.42703	0.521547162058	0.49923	0.644025623798	0.59136	T	0.299598	0.67212	T	-0.263683	0.12472	T	-0.145	0.59683	T	0.0380534300237087	0.03341	T	0.937406	0.76468	D	0.15551768	0.35145	0.1430018	0.34001	0.18044944	0.39166	0.1430018	0.34000	-6.055	0.46737	T	.	.	0.147	0.42302	B	.;.	.;.	3.994214	0.58813	24.0	0.99908814149739777	0.97875	0.98377	0.82158	D	AEFDBI	0.856697	0.77397	D	0.546863735955575	0.69891	5.421912	0.499922273781699	0.67986	5.158095	0.999999999460723	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.72	4.72	0.59248	6.927000	0.75657	7.538000	0.60033	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.480000	0.28565	0.0:1.0:0.0:0.0	17.896	0.88806	556	0.71678	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2125.98	33	chr10	127444196	.	C	T	2125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=1031;ExcessHet=0.0000;FS=4.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-4.200e-01;SOR=0.904	GT:AD:DP:GQ:PL	0/1:96,90:186:99:2140,0,2144	20	0	1	0
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|1:10,8,0:18:99:0|1:640099_A_G:236,0,396,267,420,686:640099	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	0/2:409,57,216:682:99:7528,6469,24066,0,14483,16119	2	0	2	0
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|2:448,0,76,0:524:99:0|1:1017421_G_T:1816,3153,21959,0,18811,18583,3153,21959,18811,21959:1017421	0	0	13	0
chr11	1017618	1017618	A	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1502.06	470	chr11	1017618	.	A	*,G	1502.06	.	AC=4,1;AF=0.167,0.042;AN=24;BaseQRankSum=-1.730e+00;DP=12933;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.2923;MLEAC=6,1;MLEAF=0.250,0.042;MQ=57.12;MQRankSum=-1.552e+01;QD=0.45;ReadPosRankSum=-2.164e+00;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:743,94,0:837:99:0|1:1017421_G_T:942,0,30897,3179,31145,34324:1017421	7	0	4	9
chr11	1017618	1017618	A	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.T5183C:p.V1728A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.05	B	0.056	B	.	.	1.000	N	-0.895	N	2.26	T	-1.011	T	0.011	T	0.079	-3.136	0.001	-1.99	-5.487	-0.903	1.423	0.009	0.000784335526871	.	.	0.0002	0.0002	9.974e-05	0.0008	0.0002	0.0002	0	0.0001	0.0001423	22	154602	rs771325542	1.709e-06	4.822e-05	3.385e-06	0	0.0001	0	0	.	.	0	0.0001	0	0	0	0	0	0	0	0	0.0062	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.606	0.07791	T	0.05	0.22331	B	0.056	0.26147	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	2.26	0.17596	T	0.09	0.05917	N	0.027	0.00571	-1.0109	0.26635	T	0.011	0.04134	T	9	0.010313988	0.00230	T	7.84E-4	0.00588	T	0.009	0.00846	.	.	0.0920862733494	0.08535	0.15508797170922747	0.15429	0.107656789803	0.12148	0.185074135661	0.00150	T	0.010255	0.09278	T	-0.295601	0.09080	T	-0.662387	0.08105	T	0.100785257858674	0.12443	T	.	.	.	0.017920928	0.00315	0.04538112	0.06095	0.017920928	0.00315	0.04538112	0.06094	-3.12	0.11527	T	.	.	0.072	0.04396	B	.	.	-1.046194	0.00708	0.021	0.27223928687474153	0.01341	0.00232	0.01297	N	AEFDGBCI	0.016358	0.00363	N	-2.72768374869058	0.00004	0.0002017786	-2.7868546645432	0.00005	0.0002182202	0.999999999999978	0.74766	0.042966	0.00246	3	0.003223	0.00025	3	0.0	0.00061	3	0.683672	0.66515	0	.	.	0.996	-1.99	0.07047	-6.899000	0.00063	-6.778000	0.01309	-2.766000	0.00193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2741:0.39:0.1507:0.1853	1.423	0.02177	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2083	1502.06	470	chr11	1017618	.	A	*,G	1502.06	.	AC=4,1;AF=0.167,0.042;AN=24;BaseQRankSum=-1.730e+00;DP=12933;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.2923;MLEAC=6,1;MLEAF=0.250,0.042;MQ=57.12;MQRankSum=-1.552e+01;QD=0.45;ReadPosRankSum=-2.164e+00;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:743,94,0:837:99:0|1:1017421_G_T:942,0,30897,3179,31145,34324:1017421	7	0	4	9
chr11	1017619	1017619	C	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1961.18	470	chr11	1017619	.	C	*,G	1961.18	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=-7.970e-01;DP=12986;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.1507;MLEAC=4,1;MLEAF=0.100,0.025;MQ=57.12;MQRankSum=-1.551e+01;QD=0.59;ReadPosRankSum=-2.378e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:743,94,0:837:99:0|1:1017421_G_T:942,0,30897,3179,31145,34324:1017421	15	0	4	1
chr11	1017619	1017619	C	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5182C:p.V1728L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.136	B	0.085	B	.	.	1.000	N	0	N	2.25	T	-0.970	T	0.017	T	0.071	-1.798	0.009	-1.99	-1.752	-5.547	3.869	0.004	0.000880914591661	.	.	0.0002	0.0002	8.892e-05	0.0007	0.0002	0.0002	0	0.0002	0.0001488	23	154602	rs776923183	1.601e-06	2.244e-05	3.143e-06	0	3.571e-05	2.7e-07	1e-07	.	.	3.571e-05	0	0	0	0	0	0	0	1.57e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.106	0.29688	T	0.691	0.05901	T	0.136	0.27347	B	0.085	0.29395	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.25	0.17761	T	-0.41	0.14000	N	0.072	0.04547	-0.9699	0.37220	T	0.017	0.07140	T	9	0.021094084	0.00498	T	8.81E-4	0.00800	T	0.004	0.00165	0.228	0.15406	0.110078149338	0.10416	0.16479799696447842	0.16399	0.087332336583	0.09842	0.185904532671	0.00161	T	0.025306	0.18949	T	-0.284345	0.10212	T	-0.646218	0.09221	T	0.115778049627493	0.14013	T	.	.	.	0.0501816	0.09025	0.06939536	0.14615	0.0501816	0.09025	0.06939536	0.14614	-0.985	0.00983	T	.	.	0.113	0.22208	B	.	.	-0.830553	0.01048	0.045	0.33187604895552741	0.01963	0.01051	0.03915	N	AEFDGBCI	0.030689	0.03138	N	-1.66755186315791	0.00963	0.04174298	-1.77929018143564	0.00828	0.03696766	0.99999848616586	0.74766	0.042966	0.00246	3	0.003223	0.00025	3	0.0	0.00061	3	0.683672	0.66515	0	.	.	0.996	-1.99	0.07047	-3.035000	0.00699	-2.364000	0.03847	-1.720000	0.00730	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1769:0.4115:0.4116	3.869	0.08535	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	1961.18	470	chr11	1017619	.	C	*,G	1961.18	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=-7.970e-01;DP=12986;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.1507;MLEAC=4,1;MLEAF=0.100,0.025;MQ=57.12;MQRankSum=-1.551e+01;QD=0.59;ReadPosRankSum=-2.378e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:743,94,0:837:99:0|1:1017421_G_T:942,0,30897,3179,31145,34324:1017421	15	0	4	1
chr11	1017620	1017620	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1963.06	470	chr11	1017620	.	T	*,C	1963.06	.	AC=4,1;AF=0.167,0.042;AN=24;BaseQRankSum=-3.394e+00;DP=13014;ExcessHet=1.1607;FS=0.656;InbreedingCoeff=-0.2923;MLEAC=6,1;MLEAF=0.250,0.042;MQ=57.12;MQRankSum=-1.551e+01;QD=0.59;ReadPosRankSum=-2.571e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:743,94,0:837:99:0|1:1017421_G_T:942,0,30897,3179,31145,34324:1017421	7	0	4	9
chr11	1017655	1017655	G	0	exonic	MUC6	.	.	.	.	.	390	675	445	0	12	457	0.247911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	15394.48	526	chr11	1017655	.	G	A,*	15394.48	.	AC=11,1;AF=0.262,0.024;AN=42;BaseQRankSum=0.846;DP=13673;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=11,1;MLEAF=0.262,0.024;MQ=59.47;MQRankSum=0.935;QD=2.07;ReadPosRankSum=0.561;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:621,93,0:714:99:.:.:696,0,17607,2560,17884,20444	9	0	11	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	1624.13	178	chr11	1018228	.	G	*,A	1624.13	.	AC=5,11;AF=0.119,0.262;AN=42;BaseQRankSum=2.18;DP=4019;ExcessHet=20.9642;FS=26.259;InbreedingCoeff=-0.6149;MLEAC=5,11;MLEAF=0.119,0.262;MQ=57.37;MQRankSum=-8.668e+00;QD=0.53;ReadPosRankSum=-1.860e+00;SOR=3.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:170,0,23:193:99:0|1:1018207_T_C:454,966,8104,0,7138,7069:1018207	5	0	5	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|1:7,205,0:212:99:1|1:1095948_C_G:7951,484,0,7972,615,8103:1095948	0	19	1	0
chr11	1095985	1095985	T	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370553972	2.74e-05	7.095e-05	1.851e-05	3.655e-05	6.294e-05	1.989e-05	1.761e-05	1.796e-05	1.525e-05	0	6.294e-05	0	0	3.276e-05	0	2.581e-05	5.713e-05	4.282e-05	0.0005	0.0013	0.0006	0.0004	0.0008	0.0004	0.0003	0.0002	0.0002	0.0005	0	0.0005	0.0014	0.0008	0.0015	0	0.0004	0.0015	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	0.02632	700.72	209	chr11	1095985	.	T	C	700.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=3750;ExcessHet=0.0000;FS=52.922;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=56.70;MQRankSum=-1.164e+01;QD=2.85;ReadPosRankSum=-5.722e+00;SOR=3.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,34:246:99:0|1:1095948_C_G:714,0,8801:1095948	18	0	1	2
chr11	1095988	1095988	A	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1364549576	6.333e-05	0.0008	4.617e-05	8.105e-05	0.0004	5.192e-05	4.749e-05	0.0002	0.0002	0.0003	0.0004	4.386e-05	0.0001	0.0001	0	4.45e-05	3.811e-05	7.277e-05	0.0012	0.0041	0.0011	0.0014	0.0037	0.0010	0.0009	0.0020	0.0016	0.0021	0	0.0037	0.0008	0.0032	0.0023	0	0.0005	0.0018	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	907.72	209	chr11	1095988	.	A	C	907.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.68;DP=3756;ExcessHet=0.0000;FS=47.876;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=56.65;MQRankSum=-1.228e+01;QD=3.60;ReadPosRankSum=-6.270e+00;SOR=3.195	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:213,39:252:99:0|1:1095948_C_G:921,0,8828:1095948	18	0	1	2
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	1/2:0,213,57,0:270:99:.:.:10033,2292,1685,7942,0,9152,10225,2338,8727,10877	0	19	0	0
chr11	1096003	1096003	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219021202	2.945e-05	4.76e-05	2.827e-05	3.064e-05	7.393e-05	2.017e-05	1.728e-05	1.617e-05	1.334e-05	5.237e-05	3.24e-05	5.34e-05	7.393e-05	7.469e-05	0	2.588e-05	5.156e-05	0	4.623e-05	8.097e-05	2.929e-05	6.505e-05	6.58e-05	1.227e-05	6.4e-06	1.009e-05	3.77e-06	6.58e-05	0	0	0	0	0	0	6.093e-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	0.05	1950.71	296	chr11	1096003	.	C	A	1950.71	.	AC=1;AF=0.050;AN=20;BaseQRankSum=8.42;DP=4741;ExcessHet=0.0000;FS=37.651;InbreedingCoeff=-0.1831;MLEAC=2;MLEAF=0.100;MQ=56.77;MQRankSum=-1.234e+01;QD=6.94;ReadPosRankSum=-5.558e+00;SOR=2.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,64:281:99:0|1:1095948_C_G:1959,0,8921:1095948	9	0	1	11
chr11	1096004	1096004	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	519	1002	0	1	0	2	0.000997009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488834233	3.054e-05	3.576e-05	2.394e-05	3.712e-05	8.565e-05	2.033e-05	1.698e-05	2.897e-05	1.745e-05	6.59e-05	0	6.122e-05	3.947e-05	8.028e-05	0	2.319e-05	3.047e-05	8.565e-05	1.917e-05	1.374e-05	0	4.04e-05	8.807e-05	0	0	.	.	8.807e-05	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	0.05	2058.71	296	chr11	1096004	.	C	T	2058.71	.	AC=1;AF=0.050;AN=20;BaseQRankSum=5.17;DP=4743;ExcessHet=0.0000;FS=36.721;InbreedingCoeff=-0.1831;MLEAC=2;MLEAF=0.100;MQ=56.80;MQRankSum=-1.200e+01;QD=7.27;ReadPosRankSum=-5.378e+00;SOR=2.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,68:283:99:0|1:1095948_C_G:2067,0,8816:1095948	9	0	1	11
chr11	1096006	1096006	A	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314453956	0.0002	0.0006	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	9.74e-05	0	0.0001	0.0004	2.843e-05	0.0005	0.0021	0.0003	0.0007	0.0027	0.0003	0.0002	0.0012	0.0008	0.0007	0	0.0027	0	0	0	0	0.0003	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	0.05	2323.71	311	chr11	1096006	.	A	G	2323.71	.	AC=1;AF=0.050;AN=20;BaseQRankSum=2.46;DP=4883;ExcessHet=0.0000;FS=19.420;InbreedingCoeff=-0.1831;MLEAC=2;MLEAF=0.100;MQ=56.52;MQRankSum=-1.207e+01;QD=7.93;ReadPosRankSum=-6.051e+00;SOR=1.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,78:293:99:0|1:1095948_C_G:2332,0,8786:1095948	9	0	1	11
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	0/1:292,93,0:385:99:3017,0,11625,3904,12053,15957	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	0/1:292,93,0:385:99:.:.:3017,0,11625,3904,12053,15957	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	0/1:292,93,0:385:99:.:.:3017,0,11625,3904,12053,15957	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	0/1:292,93,0:385:99:.:.:3017,0,11625,3904,12053,15957	2	0	10	5
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|1:270,93,0:366:99:0|1:1096210_C_*:2926,0,11047,3764,11169,14942:1096210	0	0	11	8
chr11	1096594	1096594	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	524	971	22	3	2	30	0.0142132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449616483	0.0049	0.0047	0.0045	0.0054	0.0217	0.0048	0.0048	0.0208	0.0205	0.0007	0.0029	0.0078	0.0001	0.0020	0.0214	0.0039	0.0059	0.0217	0.0029	0.0034	0.0027	0.0032	0.0187	0.0027	0.0026	0.0150	0.0136	0.0007	0	0.0039	0.0058	0	0.0029	0.0248	0.0029	0.0074	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4493.11	106	chr11	1096594	.	C	A	4493.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.553;DP=2712;ExcessHet=0.1072;FS=1.107;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.56;MQRankSum=-8.960e-01;QD=10.60;ReadPosRankSum=-6.600e-02;SOR=0.609	GT:AD:DP:GQ:PL	0/1:97,81:178:99:1791,0,2166	19	0	2	0
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	1/1:0,83,0:83:99:.:.:2675,249,0,2675,249,2675	0	19	0	0
chr11	1096897	1096897	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	3680.93	78	chr11	1096897	.	A	G,*	3680.93	.	AC=18,1;AF=0.600,0.033;AN=30;BaseQRankSum=1.84;DP=894;ExcessHet=0.0009;FS=56.653;InbreedingCoeff=0.4463;MLEAC=23,1;MLEAF=0.767,0.033;MQ=39.56;MQRankSum=-1.082e+00;QD=11.29;ReadPosRankSum=-7.730e-01;SOR=2.505	GT:AD:DP:GQ:PL	0/1:73,11,0:84:99:116,0,1842,333,1875,2208	4	8	2	6
chr11	1098767	1098771	CACGG	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0018	0.0002	0.0002	0.0014	0.0013	0.0007	0.0004	0.0007	0.0018	9.672e-05	0.0004	0.0001	0.0004	4.215e-05	0.0001	0.0009	0.0002	5.622e-05	0.0004	6.479e-05	5.017e-05	7.601e-05	5.563e-05	7.967e-05	0	8.734e-05	0	0.0004	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	399.27	171	chr11	1098766	.	CCACGG	C	399.27	.	AC=2;AF=0.056;AN=36;BaseQRankSum=4.93;DP=3587;ExcessHet=0.1072;FS=1.598;InbreedingCoeff=-0.0909;MLEAC=2;MLEAF=0.056;MQ=41.34;MQRankSum=-2.120e+00;QD=1.77;ReadPosRankSum=2.07;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,8:134:94:1|0:1098716_A_G:94,0,5110:1098716	16	0	2	3
chr11	1098781	1098781	C	0	exonic	MUC2	.	.	.	.	.	634	850	36	0	2	38	0.0207373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	3468.15	182	chr11	1098781	.	C	T,*	3468.15	.	AC=7,2;AF=0.206,0.059;AN=34;BaseQRankSum=5.51;DP=3838;ExcessHet=4.7172;FS=16.398;InbreedingCoeff=-0.3588;MLEAC=8,2;MLEAF=0.235,0.059;MQ=37.99;MQRankSum=1.81;QD=2.74;ReadPosRankSum=6.000e-03;SOR=1.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,23,134:262:99:0|1:1098716_A_G:558,0,5102,232,3698,4439:1098716	8	0	7	4
chr11	1098794	1098794	C	0	exonic	MUC2	.	.	.	.	.	660	820	40	0	2	42	0.0238095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	2288.8	166	chr11	1098794	.	C	T,*	2288.8	.	AC=8,2;AF=0.222,0.056;AN=36;BaseQRankSum=4.68;DP=3810;ExcessHet=6.1002;FS=15.276;InbreedingCoeff=-0.3771;MLEAC=9,2;MLEAF=0.250,0.056;MQ=37.26;MQRankSum=1.73;QD=1.52;ReadPosRankSum=-1.122e+00;SOR=1.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,19,134:255:64:0|1:1098716_A_G:399,0,5022,64,3600,4145:1098716	8	0	8	3
chr11	1098812	1098812	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1962.92	133	chr11	1098812	.	C	A,*	1962.92	.	AC=9,3;AF=0.250,0.083;AN=36;BaseQRankSum=2.08;DP=3561;ExcessHet=9.6308;FS=3.400;InbreedingCoeff=-0.4724;MLEAC=10,3;MLEAF=0.278,0.083;MQ=36.45;MQRankSum=0.209;QD=1.00;ReadPosRankSum=-2.579e+00;SOR=1.127	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:102,15,134:251:99:0|1:1098716_A_G:334,99,5070,0,3683,4082:1098716	6	0	9	3
chr11	1098813	1098813	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1884.38	133	chr11	1098813	.	C	*,T	1884.38	.	AC=3,9;AF=0.083,0.250;AN=36;BaseQRankSum=2.50;DP=3551;ExcessHet=9.6308;FS=3.047;InbreedingCoeff=-0.4710;MLEAC=3,10;MLEAF=0.083,0.278;MQ=36.42;MQRankSum=-1.580e-01;QD=0.91;ReadPosRankSum=-2.579e+00;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,134,15:251:99:0|1:1098716_A_G:334,0,4082,99,3683,5070:1098716	6	0	3	3
chr11	1098825	1098825	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	697.62	108	chr11	1098825	.	T	A,*	697.62	.	AC=4,2;AF=0.154,0.077;AN=26;BaseQRankSum=3.00;DP=3021;ExcessHet=1.7912;FS=0.664;InbreedingCoeff=-0.3114;MLEAC=5,3;MLEAF=0.192,0.115;MQ=36.82;MQRankSum=0.477;QD=0.77;ReadPosRankSum=-2.954e+00;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:102,11,134:247:99:0|1:1098716_A_G:334,267,5177,0,3783,4035:1098716	7	0	4	8
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	22453.21	278	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	CGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC,T,*	22453.21	.	AC=8,3,2;AF=0.308,0.115,0.077;AN=26;BaseQRankSum=1.50;DP=6647;ExcessHet=1.2656;FS=0.000;InbreedingCoeff=0.0574;MLEAC=11,4,3;MLEAF=0.423,0.154,0.115;MQ=53.25;MQRankSum=-1.319e+00;QD=10.10;ReadPosRankSum=-2.293e+00;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:229,0,34,0:263:99:0|1:1099366_TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC_T:236,1141,12908,0,9381,8922,1141,12908,9381,12908:1099366	3	2	3	8
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	99733.73	157	chr11	1099370	.	G	A,*	99733.73	.	AC=36,6;AF=0.857,0.143;AN=42;BaseQRankSum=2.61;DP=6688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=36,6;MLEAF=0.857,0.143;MQ=54.00;MQRankSum=1.34;QD=23.82;ReadPosRankSum=0.267;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,97,53:150:99:.:.:7396,2154,1479,3023,0,3519	0	15	0	0
chr11	1185292	1185292	G	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.G7147A:p.A2383T,	.	.	457	1063	2	0	0	2	0.00093985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343880081	5.782e-06	4.772e-06	8.515e-06	3.522e-06	0.0003	1.54e-06	4.3e-07	.	.	0	0	0	0	0	0.0003	0	7.07e-05	0	0	1.332e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.385	0.15746	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.07811	.	.	.	.	.	.	.	0.05926624	0.07098	T	.	.	.	.	.	.	.	.	.	0.08424292622584172	0.08358	.	.	.	.	.	0.027712	0.20236	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.486	0.50178	T	.	.	0.070	0.03588	B	.	.	-0.532775	0.01765	0.134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.165000	0.00635	-7.785000	0.01086	-0.847000	0.02749	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	13372.02	702	chr11	1185292	.	G	A	13372.02	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-5.896e+00;DP=16393;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=59.98;MQRankSum=-1.359e+00;QD=13.08;ReadPosRankSum=-8.170e-01;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:491,531:1022:99:0|1:1185292_G_A:13384,0,18635:1185292	15	0	1	5
chr11	1247307	1247307	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C10427T:p.S3476L,	.	.	436	1084	2	0	0	2	0.000921659	.	.	3377654	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.964	D	0.706	P	.	.	1.000	N	0	N	2.24	T	-1.013	T	0.034	T	0.11	-0.986	0.281	-2.33	-2.489	-0.229	3.873	0.016	0.000670523935588	0.0009	0.000998403	0.0021	0.0013	0.0010	0	0.0002	0.0034	0.0011	6.058e-05	0.0006531	17	26028	rs200237369	0.0011	0.0046	0.0011	0.0010	0.0013	0.0010	0.0010	0.0012	0.0012	0.0007	0.0004	0.0003	5.038e-05	0.0002	0.0005	0.0013	0.0007	6.964e-05	0.0014	0.0027	0.0015	0.0013	0.0020	0.0013	0.0012	0.0017	0.0016	0.0015	0.0033	0.0007	0	0	0.0003	0	0.0020	0.0005	0.0002	0.002	0.72154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.06	0.20523	T	-0.5	0.15782	N	0.054	0.02559	-1.0133	0.25880	T	0.034	0.14639	T	9	0.008140892	0.00185	T	6.71E-4	0.00383	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.3778921272455703	0.37704	.	.	0.291973948479	0.09209	T	0.019382	0.15452	T	-0.608035	0.00130	T	-0.691729	0.06289	T	0.0188476063997962	0.00595	T	0.453055	0.12870	T	0.04009491	0.05660	0.055800963	0.09854	0.04009491	0.05660	0.055800963	0.09853	-9.23	0.69165	D	.	.	0.126	0.26794	B	.	.	0.558156	0.09265	6.049	0.60519443585822308	0.06483	0.00826	0.03330	N	AEFI	0.040760	0.06108	N	-1.51925413910876	0.01723	0.07542334	-1.69741881414829	0.01149	0.051674	7.3503208821387E-4	0.07723	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.16	-2.33	0.06340	-0.639000	0.05543	-6.979000	0.01259	-1.530000	0.00994	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3952:0.3367:0.268	3.873	0.08548	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1486.98	122	chr11	1247307	.	C	T	1486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.19;DP=2695;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.32;MQRankSum=7.09;QD=7.40;ReadPosRankSum=-3.840e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/1:137,64:201:99:1501,0,5063	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	0/1:88,95,0:183:99:.:.:3324,0,3127,3588,3419,7007	3	3	5	0
chr11	4653052	4653052	A	G	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.A526G:p.I176V,	.	.	433	995	91	3	0	97	0.0464782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.140	N	1.000	N	-0.09	N	1.29	T	-0.987	T	0.033	T	0.053	-2.361	0.004	3.87	0.947	-0.412	5.953	0.095	.	0.0028	0.0115815	0.0098	0.0006	0.0034	0	0.0002	0.0041	0.0100	0.0547	0.0085704	1325	154602	rs61746313	0.0051	0.0051	0.0035	0.0068	0.0518	0.0050	0.0050	0.0505	0.0500	0.0005	0.0027	0.0085	0.0002	5.617e-05	0.0307	0.0019	0.0070	0.0518	0.0039	0.0039	0.0032	0.0046	0.0496	0.0036	0.0035	0.0445	0.0425	0.0005	0.0011	0.0058	0.0086	0.0004	0.0003	0.0136	0.0028	0.0057	0.0496	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.140478	0.18308	N	0.501168	1	0.08975	N	.	.	.	1.29	0.35775	T	0.38	0.03579	N	0.023	0.00407	-0.9871	0.33323	T	0.033	0.14029	T	10	0.001768142	0.00023	T	.	.	.	0.095	0.27398	.	.	0.0297737177859	0.01360	0.12332486038305565	0.12258	0.105741972977	0.11956	0.271344333887	0.06317	T	.	.	.	-0.722216	0.00027	T	-0.770713	0.02744	T	0.00988813361863609	0.00131	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	0.262711	0.06410	2.879	0.16601044500135223	0.00451	0.05363	0.11223	N	AEFBI	0.114271	0.22514	N	-1.06097716116596	0.07374	0.3423423	-0.968385012516924	0.10500	0.5292187	0.00349446597818093	0.10145	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	3.87	0.43823	-0.128000	0.10508	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.739000	0.35404	0.7307:0.0:0.2692:0.0	5.953	0.18491	814	0.42100	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2326.98	97	chr11	4653052	.	A	G	2326.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=2422;ExcessHet=0.0000;FS=1.079;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=2.17;SOR=0.617	GT:AD:DP:GQ:PL	0/1:115,92:207:99:2341,0,2911	20	0	1	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.72	H	6.65	T	-1.162	T	0.013	T	0.859	0.989	9.038	2.16	0.307	0.075	8.371	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3438	1921.6	129	chr11	5351792	.	C	G	1921.6	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.528e+00;DP=3508;ExcessHet=7.7275;FS=256.706;InbreedingCoeff=-0.4658;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.281;SOR=11.086	GT:AD:DP:GQ:PL	0/1:134,26:177:99:192,0,4893	5	0	11	5
chr11	5440733	5440733	G	A	exonic	OR51I1	.	nonsynonymous SNV	OR51I1:NM_001005288:exon1:c.C782T:p.S261F,	.	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.998	D	0.001	N	0.660	N	1.565	L	8.72	T	-0.714	T	0.001	T	0.146	2.945	15.82	5.47	2.593	1.741	12.485	0.147	.	0.0056	0.00519169	0.0016	0.0163	0.0005	0	0	5.997e-05	0.0033	0.0004	0.0014877	230	154602	rs61737027	0.0005	0.0005	0.0006	0.0005	0.0182	0.0005	0.0005	0.0170	0.0166	0.0182	0.0006	0	0	0	0.0002	2.069e-05	0.0010	0.0004	0.0049	0.0049	0.0049	0.0050	0.0175	0.0046	0.0045	0.0164	0.0160	0.0175	0	0.0008	0	0	0	0.0034	1.47e-05	0.0033	0.0010	0.0	0.91255	D	0.141	0.33442	T	0.999	0.77913	D	0.998	0.88582	D	0.001112	0.40219	N	0.113088	0.66032	0.30455	N	1.555	0.39373	L	8.72	0.00098	T	-5.39	0.85027	D	0.225	0.25253	-0.7136	0.59776	T	0.001	0.00222	T	10	0.004553467	0.00094	T	.	.	.	0.147	0.38986	.	.	0.346085882481	0.34212	0.24759915096614962	0.24673	0.0110850897619	0.01030	0.293880045414	0.09492	T	0.009705	0.08820	T	-0.560484	0.00252	T	-0.562937	0.16103	T	0.0553529289853593	0.06416	T	0.865313	0.56401	D	0.6611537	0.75960	0.6930597	0.81933	0.6611537	0.75962	0.6930597	0.81934	-8.643	0.65372	D	.	.	0.515	0.65243	A	.	.	4.159961	0.62465	24.5	0.99797212163985238	0.88194	0.18773	0.20396	N	AEFGBHCI	0.074164	0.14857	N	0.399713973490191	0.61406	4.341359	0.34801675693454	0.58389	4.009034	0.936566312919239	0.27260	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.584449	0.35598	0	.	.	5.47	5.47	0.80345	1.564000	0.35983	.	.	0.650000	0.52971	0.008000	0.17931	0.834000	0.27239	0.205000	0.22041	0.081:0.0:0.919:0.0	12.485	0.55207	680	0.59965	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2385.98	33	chr11	5440733	.	G	A	2385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=1085;ExcessHet=0.0000;FS=1.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=1.21;SOR=0.593	GT:AD:DP:GQ:PL	0/1:73,91:164:99:2400,0,1814	20	0	1	0
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.689	P	0.034	N	0.570	D	4.255	H	-0.08	T	0.418	D	0.499	T	0.685	1.906	12.33	3.23	0.271	3.583	13.827	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1980.01	154	chr11	6200107	.	C	G	1980.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.829e+00;DP=2478;ExcessHet=4.7172;FS=120.687;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.23;ReadPosRankSum=1.61;SOR=11.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,23:189:73:0|1:6200107_C_G:73,0,6499:6200107	12	0	9	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.911	P	0.158	B	0.004	N	0.906	D	1.675	L	1.07	T	-0.977	T	0.081	T	0.099	1.942	12.45	5.11	2.518	-0.072	13.517	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2170.01	155	chr11	6200109	.	C	G	2170.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.569e+00;DP=2452;ExcessHet=4.7172;FS=131.986;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=1.54;SOR=11.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,23:189:73:0|1:6200107_C_G:73,0,6499:6200107	12	0	9	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,39,33,0,0,0:72:99:.:.:2483,1384,1638,1161,0,1341,2568,1589,1353,2859,2568,1589,1353,2859,2859,2568,1589,1353,2859,2859,2859	0	5	0	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	66	5	343	388	720	1839	0.991143	.	.	526543	not_specified|not_provided|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,39,33,0,0,0:72:99:.:.:2483,1384,1638,1161,0,1341,2568,1589,1353,2859,2568,1589,1353,2859,2859,2568,1589,1353,2859,2859,2859	0	5	0	0
chr11	6544228	6544228	G	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon19:c.G3736A:p.A1246T,	.	.	423	1093	6	0	0	6	0.00273723	.	.	724593	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.85	T	0.0	B	0.006	B	.	.	1.000	N	0.69	N	0.15	T	-1.012	T	0.091	T	0.049	0.930	8.788	0.28	0.131	0.002	7.126	0.035	0.0114797969781	0.0028	0.00219649	0.0051	0.0010	0	0	0	0.0024	0	0.0096	0.001229	190	154602	rs186978440	0.0040	0.0039	0.0040	0.0041	0.0101	0.0040	0.0039	0.0095	0.0093	0.0006	0.0004	0.0029	2.798e-05	0.0006	0.0012	0.0042	0.0023	0.0101	0.0024	0.0024	0.0024	0.0023	0.0068	0.0022	0.0021	0.0050	0.0044	0.0009	0	0.0009	0.0026	0.0002	0.0005	0	0.0038	0.0009	0.0068	1.0	0.00964	T	0.065	0.44702	T	0.0	0.02946	B	0.006	0.12133	B	.	.	.	.	0.993171	0.23759	N	-1.01	0.01154	N	0.15	0.60734	T	1.22	0.01051	N	0.079	0.05414	-1.0125	0.26133	T	0.091	0.34901	T	9	0.005279094	0.00115	T	0.01148	0.29147	T	0.035	0.08770	.	.	0.210429274316	0.20668	0.037799768222473155	0.03725	0.114439556271	0.12903	0.273092210293	0.06548	T	0.033322	0.22864	T	-0.613467	0.00121	T	-0.644584	0.09339	T	0.00320498266328223	0.00034	T	0.475952	0.14261	T	0.026946446	0.01819	0.06689118	0.13764	0.026946446	0.01819	0.06689118	0.13764	-3.495	0.16361	T	.	.	0.065	0.01960	B	.;.	.;.	0.712969	0.10821	7.500	0.92915229743231609	0.22475	0.11544	0.16704	N	AEFBI	0.025361	0.01725	N	-0.908481829039587	0.10642	0.5095624	-0.775321889933573	0.15101	0.7925385	6.22264173754198E-5	0.04366	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.09	0.28	0.14934	-0.003000	0.12836	0.819000	0.21831	-0.116000	0.14526	0.989000	0.36753	0.979000	0.30280	0.975000	0.56047	0.5813:0.0:0.4187:0.0	7.126	0.24649	467	0.78285	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	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	812.98	39	chr11	6544228	.	G	A	812.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.400e-02;DP=824;ExcessHet=0.0000;FS=0.840;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=-8.150e-01;SOR=0.820	GT:AD:DP:GQ:PL	0/1:45,35:80:99:827,0,1117	20	0	1	0
chr11	6547636	6547636	C	T	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon21:c.C6697T:p.R2233C,	.	.	434	1071	15	2	0	19	0.00879223	.	.	1670601	not_provided|DNHD1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.99	D	0.53	P	0.867	N	0.872	N	1.245	L	1.63	T	-1.053	T	0.053	T	0.333	3.272	16.98	2.92	0.311	0.726	4.302	0.105	.	0.0064	0.00419329	0.0130	0.0079	0.0029	0	0	0.0066	0.0130	0.0336	0.0023997	371	154602	rs117939157	0.0065	0.0062	0.0061	0.0068	0.0204	0.0063	0.0063	0.0195	0.0192	0.0081	0.0013	0.0067	0.0001	0.0007	0.0036	0.0061	0.0048	0.0204	0.0058	0.0058	0.0057	0.0058	0.0154	0.0054	0.0053	0.0126	0.0115	0.0088	0	0.0017	0.0060	0.0002	0.0007	0.0068	0.0055	0.0024	0.0154	0.164	0.23360	T	0.004	0.74150	D	0.99	0.63424	D	0.53	0.48544	P	0.866569	0.07149	N	1.062860	0.968442	0.25801	N	2.35	0.67516	M	1.63	0.28002	T	-1.64	0.39314	N	0.213	0.23758	-1.0531	0.13547	T	0.053	0.22501	T	10	0.004265189	0.00085	T	.	.	.	0.105	0.29889	.	.	0.398283496042	0.39440	0.16205055164973825	0.16126	0.420025717159	0.42536	0.223574578762	0.01527	T	0.011186	0.10013	T	-0.501908	0.00558	T	-0.478137	0.24643	T	0.0237728193375252	0.01117	T	0.655434	0.26547	T	0.06109274	0.12611	0.042963356	0.05238	0.06109274	0.12611	0.042963356	0.05237	-4.18	0.26461	T	.	.	0.086	0.10642	B	.;.	.;.	2.216652	0.28284	17.75	0.99718684397666835	0.81914	0.47592	0.28017	N	AEFBI	0.114976	0.22625	N	-0.382220235524935	0.26102	1.422027	-0.482424820534155	0.22637	1.23058	0.00615243879697362	0.11143	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	6.17	2.92	0.32998	0.765000	0.26211	0.370000	0.17667	-0.218000	0.08083	0.505000	0.26994	0.023000	0.20922	0.001000	0.02609	0.1518:0.6028:0.1464:0.099	4.302	0.10372	473	0.77910	.;.	.	.	.	.	rs117939157	Uncertain significance	0	0	0	0	0	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	1063.11	31	chr11	6547636	.	C	T	1063.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.564;DP=755;ExcessHet=0.1072;FS=1.947;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=0.830;SOR=0.998	GT:AD:DP:GQ:PL	0/1:21,24:45:99:624,0,518	19	0	2	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	0/1:58,28:96:99:.:.:115,0,988	7	0	10	4
chr11	6892050	6892050	T	C	exonic	OR2D2	.	nonsynonymous SNV	OR2D2:NM_003700:exon1:c.A451G:p.S151G,	.	.	434	1057	31	0	0	31	0.0144522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.784	P	0.527	P	0.000	D	0.997	N	0.89	L	1.24	T	-1.062	T	0.056	T	0.156	2.054	12.83	5.12	2.291	0.025	8.541	0.093	0.003817604036	0.0042	0.00179712	0.0040	0.0011	0.0033	0.0001	0.0020	0.0048	0.0055	0.0059	0.0038357	593	154602	rs74917712	0.0047	0.0047	0.0046	0.0048	0.0134	0.0046	0.0046	0.0110	0.0101	0.0008	0.0039	0.0093	2.519e-05	0.0019	0.0134	0.0049	0.0049	0.0062	0.0039	0.0039	0.0038	0.0040	0.0061	0.0036	0.0035	0.0051	0.0048	0.0010	0	0.0061	0.0104	0.0004	0.0018	0.0034	0.0053	0.0061	0.0050	0.132	0.26519	T	0.271	0.22291	T	0.784	0.44396	P	0.527	0.48453	P	0.000019	0.62929	D	0.000000	0.996695	0.22933	N	1	0.25136	L	1.24	0.36691	T	-3.59	0.69236	D	0.09	0.06854	-1.0621	0.11239	T	0.056	0.23677	T	10	0.009351373	0.00211	T	0.003818	0.08930	T	0.093	0.26882	.	.	0.667396578862	0.66459	0.22614904341023914	0.22529	0.0160720979478	0.01538	0.267553925514	0.05824	T	0.007197	0.06615	T	-0.551367	0.00286	T	-0.562996	0.16097	T	0.0497815433916849	0.05462	T	0.60064	0.22426	T	0.36737594	0.58390	0.2915325	0.55178	0.36737594	0.58390	0.2915325	0.55177	-4.217	0.26997	T	.	.	0.072	0.04316	B	.	.	2.830404	0.37313	20.5	0.99226097246895772	0.56057	0.10633	0.16084	N	AEFGBI	0.062217	0.11946	N	-0.0295373959221345	0.40522	2.407833	0.00228593108559329	0.39823	2.367003	0.0155712046616577	0.12730	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.12	5.12	0.69459	0.196000	0.16979	0.182000	0.15643	0.646000	0.52725	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.1719:0.0:0.0:0.8281	8.541	0.32551	502	0.75873	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6005.68	44	chr11	6892050	.	T	C	6005.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.734e+00;DP=1982;ExcessHet=0.3300;FS=0.519;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.592;SOR=0.745	GT:AD:DP:GQ:PL	0/1:106,106:212:99:2614,0,2832	18	0	3	0
chr11	7630993	7630993	A	G	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon7:c.A604G:p.T202A	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.0	B	0.001	B	0.327	N	1.000	N	0.895	L	-0.32	T	-0.994	T	0.051	T	0.176	-1.065	0.178	-5.22	-0.768	-1.011	4.28	0.006	.	7.7e-05	0.00259585	0.0009	0	8.654e-05	0.0001	0	0	0.0011	0.0063	0.0007956	123	154602	rs147867678	0.0004	0.0004	0.0003	0.0006	0.0066	0.0004	0.0004	0.0061	0.0059	0	4.472e-05	0	0	0	0.0003	5.397e-06	0.0006	0.0066	0.0002	0.0002	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	0	0	0.0002	0	0	0	0.0005	0.0070	0.503	0.11550	T	0.86	0.03409	T	0.0	0.02946	B	0.0	0.01387	B	0.327261	0.04109	N	1.404700	1	0.08975	N	0.145	0.08828	N	-0.32	0.68181	T	-0.67	0.19297	N	0.098	0.08227	-0.9936	0.31670	T	0.051	0.21728	T	10	0.0060495734	0.00136	T	.	.	.	0.073	0.21317	.	.	0.538561335957	0.53506	0.1451735567604721	0.14440	0.0279714721971	0.02869	0.322181761265	0.13752	T	0.006638	0.06067	T	-0.538301	0.00343	T	-0.541864	0.18113	T	0.00323089880443248	0.00034	T	0.628437	0.24942	T	0.017939249	0.00317	0.020961206	0.00165	0.017939249	0.00317	0.020961206	0.00165	-2.641	0.07120	T	.	.	0.057	0.00553	B	.;.;.;.	.;.;.;.	-0.275780	0.02725	0.360	0.26378565490949096	0.01261	0.00547	0.02511	N	AEFBI	0.043224	0.06807	N	-1.15012711567626	0.05777	0.2642804	-1.28515461451502	0.04630	0.2188683	0.802211486884024	0.24206	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	-5.22	0.02592	-0.935000	0.04059	-0.488000	0.08877	-0.687000	0.04166	0.000000	0.06391	0.000000	0.08366	0.237000	0.22922	0.4975:0.0975:0.3062:0.0988	4.28	0.10274	839	0.37672	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1057.98	37	chr11	7630993	.	A	G	1057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.124;DP=769;ExcessHet=0.0000;FS=1.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.33;ReadPosRankSum=0.626;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,29:69:99:0|1:7630993_A_G:1072,0,1530:7630993	20	0	1	0
chr11	7631009	7631009	A	C	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon7:c.A620C:p.E207A	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.264	B	0.107	B	0.037	N	0.816	D	0.69	N	-0.41	T	-0.901	T	0.116	T	0.556	2.500	14.32	5.05	2.371	1.683	7.775	0.256	.	7.7e-05	0.00299521	0.0009	9.632e-05	8.658e-05	0.0001	0	0	0.0011	0.0063	0.0008215	127	154602	rs141555648	0.0004	0.0004	0.0003	0.0006	0.0065	0.0004	0.0004	0.0061	0.0059	2.988e-05	4.472e-05	0	0	0	0.0003	1.8e-06	0.0006	0.0065	0.0003	0.0003	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	7.214e-05	0	0	0	0.0002	0	0	0	0.0005	0.0070	0.19	0.33418	T	0.534	0.14912	T	0.172	0.28767	B	0.034	0.22546	B	0.037385	0.24408	N	0.428519	0.686163	0.34701	D	1.935	0.51832	L	-0.41	0.69413	T	-0.97	0.25770	N	0.238	0.30800	-0.9008	0.47910	T	0.116	0.41120	T	10	0.0065229535	0.00148	T	.	.	.	0.256	0.56694	.	.	0.767332750182	0.76520	0.1872317281989996	0.18641	0.0535589195105	0.05910	0.362885415554	0.19805	T	0.006931	0.06354	T	-0.318942	0.06985	T	-0.226909	0.52069	T	0.0206220379021904	0.00762	T	0.813219	0.48193	T	0.05501827	0.10634	0.041320316	0.04671	0.05501827	0.10634	0.041320316	0.04670	-3.905	0.22377	T	.	.	0.086	0.16538	B	.;.;.;.	.;.;.;.	3.442841	0.47899	22.5	0.98058304436914734	0.37929	0.72268	0.35379	D	AEFBI	0.166364	0.29294	N	0.078326342974546	0.45453	2.801566	0.168502882648835	0.48130	3.033205	0.868863035036288	0.25374	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	5.05	0.67566	1.937000	0.39821	7.945000	0.75661	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.951000	0.49849	0.8826:0.0:0.1174:0.0	7.775	0.28199	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1013.98	37	chr11	7631009	.	A	C	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.492;DP=762;ExcessHet=0.0000;FS=0.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.35;ReadPosRankSum=0.850;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,27:62:99:0|1:7630993_A_G:1028,0,1382:7630993	20	0	1	0
chr11	10778867	10778867	G	A	exonic	CTR9	.	nonsynonymous SNV	CTR9:NM_001346279:exon24:c.G3212A:p.R1071K	.	.	432	1083	7	0	0	7	0.00322135	.	.	935277	not_provided|Predisposition_to_Wilms_tumor,_CTR9-related	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.841	P	0.745	P	0.000	D	1.000	D	0.205	N	0.95	T	-1.046	T	0.113	T	0.449	3.460	17.72	5.5	2.591	4.815	19.391	0.156	0.0144982354941	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0004	0	0	0.000207	32	154602	rs141434094	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	3.826e-05	0	1.872e-05	0	0.0002	0.0001	0	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0004	0.0003	0	0	0.0007	0	0	0	0	0.0004	0	0	0.334	0.12961	T	0.884	0.03187	T	0.841	0.46518	P	0.745	0.55870	P	0.000000	0.84330	D	0.044916	1	0.81001	D	1.525	0.38595	L	0.95	0.43279	T	-0.12	0.08809	N	0.33	0.37093	-1.0464	0.15418	T	0.113	0.40261	T	10	0.093266755	0.16492	T	0.014498	0.34657	T	0.156	0.40720	.	.	0.456461865991	0.45270	0.27371880974305096	0.27284	0.135726669683	0.15305	0.589054882526	0.51360	T	0.047186	0.27649	T	-0.349423	0.04763	T	-0.381117	0.35591	T	0.160974930325239	0.17943	T	0.690631	0.30012	T	0.20660912	0.42840	0.19757381	0.43546	0.20660912	0.42840	0.19757381	0.43545	-4.105	0.25364	T	.	.	0.071	0.03773	B	.	.	3.274452	0.44839	22.0	0.99264206114572895	0.57322	0.93889	0.59485	D	AEFDBHCIJ	0.681721	0.64498	D	0.29834465419715	0.56064	3.770742	0.399323738613922	0.61523	4.353607	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.921000	0.63096	9.913000	0.82443	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.717000	0.34675	0.0:0.0:1.0:0.0	19.391	0.94572	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2226.98	40	chr11	10778867	.	G	A	2226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.298;DP=842;ExcessHet=0.0000;FS=0.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=1.39;SOR=0.633	GT:AD:DP:GQ:PL	0/1:62,90:152:99:2241,0,1382	20	0	1	0
chr11	12294806	12294806	-	CTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTC:p.P470_T471insP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,28,0,0,0,0,0:67:99:0|1:12294797_G_GCTC:929,0,1551,1048,1635,2683,1048,1635,2683,2683,1048,1635,2683,2683,2683,1048,1635,2683,2683,2683,2683,1048,1635,2683,2683,2683,2683,2683:12294797	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTC:p.P470_T471insPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,28,0,0,0,0,0:67:99:0|1:12294797_G_GCTC:929,0,1551,1048,1635,2683,1048,1635,2683,2683,1048,1635,2683,2683,2683,1048,1635,2683,2683,2683,2683,1048,1635,2683,2683,2683,2683,2683:12294797	6	0	4	0
chr11	12294806	12294806	-	CTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTC:p.P470_T471insPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,28,0,0,0,0,0:67:99:0|1:12294797_G_GCTC:929,0,1551,1048,1635,2683,1048,1635,2683,2683,1048,1635,2683,2683,2683,1048,1635,2683,2683,2683,2683,1048,1635,2683,2683,2683,2683,2683:12294797	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTCCTC:p.P470_T471insPPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,28,0,0,0,0,0:67:99:0|1:12294797_G_GCTC:929,0,1551,1048,1635,2683,1048,1635,2683,2683,1048,1635,2683,2683,2683,1048,1635,2683,2683,2683,2683,1048,1635,2683,2683,2683,2683,2683:12294797	6	0	4	0
chr11	12294798	12294806	CTCCTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1367_1375del:p.P468_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140	.	0.0027	0.0050	0.0026	0.0015	0.0007	0.0029	0.0042	0.0020	0.0005379	14	26028	rs761605598	0.0069	0.0073	0.0069	0.0069	0.0141	0.0068	0.0067	0.0130	0.0126	0.0141	0.0080	0.0114	0.0007	0.0005	0.0089	0.0070	0.0088	0.0060	0.0111	0.0096	0.0115	0.0106	0.0238	0.0106	0.0104	0.0222	0.0215	0.0238	0	0.0146	0.0137	0.0013	0.0009	0.0324	0.0073	0.0091	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,28,0,0,0,0,0:67:99:0|1:12294797_G_GCTC:929,0,1551,1048,1635,2683,1048,1635,2683,2683,1048,1635,2683,2683,2683,1048,1635,2683,2683,2683,2683,1048,1635,2683,2683,2683,2683,2683:12294797	6	0	4	0
chr11	12294801	12294806	CTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1370_1375del:p.P469_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,28,0,0,0,0,0:67:99:0|1:12294797_G_GCTC:929,0,1551,1048,1635,2683,1048,1635,2683,2683,1048,1635,2683,2683,2683,1048,1635,2683,2683,2683,2683,1048,1635,2683,2683,2683,2683,2683:12294797	6	0	4	0
chr11	12294842	12294842	A	0	exonic	MICALCL	.	.	.	.	.	612	397	355	151	7	664	0.452791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	20646.17	38	chr11	12294842	.	A	C,*	20646.17	.	AC=13,3;AF=0.382,0.088;AN=34;BaseQRankSum=1.48;DP=1943;ExcessHet=0.0321;FS=0.000;InbreedingCoeff=0.1821;MLEAC=15,3;MLEAF=0.441,0.088;MQ=59.98;MQRankSum=0.00;QD=20.18;ReadPosRankSum=1.33;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,50,0:100:99:1|0:12294797_G_GCTC:1179,0,1552,1329,1701,3030:12294797	6	2	6	4
chr11	17527313	17527313	G	A	exonic	USH1C	.	nonsynonymous SNV	USH1C:NM_001297764:exon5:c.C406T:p.R136W	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	326732	Inborn_genetic_diseases|not_provided|Usher_syndrome_type_1C|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010171,MedGen:C1848604,OMIM:276904,Orphanet:231169,Orphanet:886|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.91	M	2.25	T	-0.835	T	0.137	T	0.926	4.424	23.5	4.16	2.373	7.110	13.319	0.527	0.253939305336	7.7e-05	0.000199681	7.432e-05	9.653e-05	0	0.0001	0	0.0001	0	0	6.47e-05	10	154602	rs368903400	3.492e-05	3.557e-05	4.36e-05	2.615e-05	0.0005	2.699e-05	2.44e-05	0.0001	7.56e-05	8.961e-05	8.944e-05	0	0.0001	0	0.0005	2.158e-05	0.0001	4.637e-05	7.246e-05	7.22e-05	5.152e-05	9.439e-05	0.0003	3.981e-05	3.135e-05	8.893e-05	5.397e-05	2.415e-05	0	0.0003	0	0.0002	0	0	5.89e-05	0.0005	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	2.25	0.17761	T	-7.12	0.94729	D	0.932	0.95021	-0.8348	0.52989	T	0.137	0.45394	T	10	0.80008686	0.79423	D	0.253939	0.89231	D	0.527	0.80007	.	.	0.780577928845	0.77855	0.6958418196185627	0.69525	0.395326890561	0.40677	0.797374606133	0.81563	T	0.261734	0.63324	T	0.0745486	0.61396	D	0.105976	0.77305	D	0.697272658348083	0.40589	D	0.979502	0.96302	D	0.8228303	0.85411	0.8433234	0.91059	0.87615687	0.89355	0.8281613	0.90066	-10.871	0.80376	D	.	.	0.710	0.77631	P	.;.;.;.;.	.;.;.;.;.	5.969471	0.94217	34	0.99909138878715587	0.97875	0.96252	0.68237	D	AEFDBI	0.948221	0.95961	D	0.838487428185637	0.88443	9.58029	0.768163898963396	0.87509	9.246023	0.999727808109063	0.42220	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.13	4.16	0.48138	7.669000	0.82880	8.521000	0.77423	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8411:0.1588	13.319	0.59862	740	0.53092	PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1102.98	37	chr11	17527313	.	G	A	1102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.512;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.194;SOR=0.639	GT:AD:DP:GQ:PL	0/1:40,49:89:99:1117,0,807	20	0	1	0
chr11	30905098	30905098	G	A	exonic	DCDC1	.	nonsynonymous SNV	DCDC1:NM_020869:exon12:c.C1492T:p.R498W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.009	B	0.004	B	0.003	N	0.995	N	2.095	M	.	.	-0.940	T	0.124	T	0.672	2.613	14.70	4.39	2.474	0.679	7.369	0.176	0.0287800271216	7.7e-05	.	6.079e-05	0.0003	0	0	0	1.581e-05	0.0011	0.0001	5.17e-05	8	154602	rs144668195	2.121e-05	2.121e-05	2.451e-05	1.788e-05	5.977e-05	1.52e-05	1.325e-05	1.583e-05	1.151e-05	5.977e-05	0	0	0	0	0	2.069e-05	3.314e-05	4.638e-05	5.253e-05	5.249e-05	5.14e-05	5.372e-05	9.625e-05	2.556e-05	1.829e-05	3.243e-05	1.91e-05	9.625e-05	0	0	0	0	0	0.0034	4.411e-05	0	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.003156	0.35359	N	0.130642	0.995246	0.23338	N	.	.	.	1.21	0.37230	T	.	.	.	0.272	0.44283	-0.9404	0.42552	T	0.124	0.42715	T	9	0.12122041	0.22975	T	0.02878	0.51400	D	0.176	0.44373	.	.	0.391775403332	0.38787	0.22115270554143396	0.22030	.	.	0.204922646284	0.00614	T	.	.	.	-0.218055	0.18260	T	-0.271562	0.47661	T	0.206846207493344	0.20787	T	0.761924	0.38711	T	.	.	.	.	.	.	.	.	-5.918	0.45588	T	.	.	0.112	0.34470	B	.;.	.;.	2.173981	0.27707	17.55	0.99866593253317149	0.94457	0.24041	0.22269	N	AEFI	0.377375	0.46117	N	-0.222234482283471	0.32222	1.814919	-0.163276533106889	0.32901	1.876455	3.2443970149907E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.31	4.39	0.52211	0.497000	0.22222	1.982000	0.30038	0.676000	0.76740	0.268000	0.25027	0.909000	0.28100	0.036000	0.13842	0.088:0.0:0.7475:0.1645	7.369	0.25963	452	0.79239	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1912.98	34	chr11	30905098	.	G	A	1912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=848;ExcessHet=0.0000;FS=2.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-7.720e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/1:79,80:159:99:1927,0,1787	20	0	1	0
chr11	31783430	31783430	G	C	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_019040:exon10:c.G1181C:p.S394T	.	.	422	1070	30	0	0	30	0.0138249	.	.	693004	not_provided|ELP4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.2	T	0.939	P	0.67	P	.	.	1.000	D	1.63	L	0.95	T	-0.977	T	0.112	T	0.221	3.858	19.60	4.83	1.570	7.420	14.926	0.117	.	0.0057	0.00259585	0.0057	0.0011	0.0040	0.0005	0.0035	0.0060	0.0089	0.0121	0.0054656	845	154602	rs3026404	0.0064	0.0064	0.0062	0.0067	0.0137	0.0063	0.0063	0.0121	0.0119	0.0011	0.0038	0.0066	0.0006	0.0045	0.0137	0.0064	0.0061	0.0128	0.0048	0.0048	0.0045	0.0052	0.0112	0.0045	0.0044	0.0088	0.0080	0.0014	0.0252	0.0046	0.0055	0.0008	0.0055	0.0136	0.0065	0.0028	0.0112	.	.	.	.	.	.	0.939	0.52645	P	0.67	0.53116	P	.	.	.	.	0.940106	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.9774	0.35593	T	0.112	0.40099	T	9	0.009358019	0.00211	T	.	.	.	0.117	0.32689	.	.	0.49118058892	0.48749	.	.	0.30824296967	0.33134	0.519372045994	0.41538	T	0.020801	0.16311	T	-0.266691	0.12128	T	-0.145471	0.59643	T	0.0189696561866066	0.00606	T	0.854215	0.54045	D	0.17102155	0.37712	0.2017196	0.44165	0.16778867	0.37196	0.2017196	0.44164	-3.624	0.18204	T	.	.	0.207	0.48188	B	.;.	.;.	3.742534	0.53604	23.4	0.99738626252320284	0.83337	0.99504	0.96829	D	AEFDIJ	0.897133	0.83896	D	0.521952656692334	0.68389	5.21055	0.554219415158907	0.71691	5.693676	0.998614749081728	0.37309	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.73	4.83	0.61880	7.465000	0.79922	8.656000	0.77953	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0686:0.0:0.9314:0.0	14.926	0.70528	374	0.84073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1324.98	33	chr11	31783430	.	G	C	1324.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.911;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.16;ReadPosRankSum=-1.900e-02;SOR=0.798	GT:AD:DP:GQ:PL	0/1:35,47:82:99:1339,0,813	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	2/3:3,0,11,6:21:36:271,283,341,36,104,100,107,165,0,121	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	2/3:3,0,11,6:21:36:271,283,341,36,104,100,107,165,0,121	0	0	0	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	653.59	237	chr11	56375950	.	A	G,*	653.59	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=5.82;DP=5436;ExcessHet=36.0830;FS=3.202;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=-1.131e+00;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,44,0:255:99:0|1:56375950_A_G:522,0,8680,1034,8805,9835:56375950	2	0	2	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	440.62	237	chr11	56375951	.	T	G,*	440.62	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.55;DP=5427;ExcessHet=36.0830;FS=3.220;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.09;ReadPosRankSum=-1.200e+00;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,23,20:254:99:0|1:56375950_A_G:547,0,8699,206,8172,8998:56375950	1	0	3	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	822.68	237	chr11	56375953	.	A	T,*	822.68	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.15;DP=5417;ExcessHet=36.0830;FS=3.217;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=-4.650e-01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,41,0:246:99:0|1:56375950_A_G:516,0,8494,1017,8597,9565:56375950	1	0	3	1
chr11	57796896	57796896	G	A	exonic	CTNND1	.	nonsynonymous SNV	CTNND1:NM_001085469:exon3:c.G557A:p.R186H	.	.	421	1072	28	1	0	30	0.0137994	.	.	3207144	CTNND1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	1.905	M	0.94	T	0.450	D	0.705	D	0.837	5.488	35	5.92	2.805	8.932	19.928	0.526	.	0.0002	0.00239617	0.0016	0.0001	0.0007	0.0001	0	0.0005	0.0024	0.0109	0.0013583	210	154602	rs200914456	0.0009	0.0010	0.0006	0.0013	0.0105	0.0009	0.0009	0.0099	0.0097	6.005e-05	0.0005	0.0042	0	0	0.0056	0.0002	0.0014	0.0105	0.0006	0.0006	0.0004	0.0007	0.0120	0.0005	0.0004	0.0095	0.0086	9.621e-05	0	6.537e-05	0.0023	0.0002	0	0	0.0002	0.0005	0.0120	0.001	0.91255	D	0.127	0.92824	T	0.997	0.90584	D	0.884	0.88582	P	0.000000	0.84330	D	0.049271	0.999999	0.81001	D	2.305	0.65957	M	-1.36	0.83327	T	-2.12	0.71882	N	0.652	0.77601	0.450	0.89840	D	0.705	0.89849	D	10	0.008713067	0.00197	T	.	.	.	0.526	0.79947	.	.	0.893469137683	0.89241	0.7538686209710876	0.75333	1.21594706112	0.80967	0.727611362934	0.71158	T	0.036562	0.73026	T	0.0189001	0.54234	T	0.262334	0.86201	D	0.0432667433749685	0.04286	T	0.963804	0.88413	D	0.3429911	0.56517	0.32258293	0.58197	0.3187861	0.54537	0.37006184	0.62263	-3.71	0.26795	T	.	.	0.500	0.64763	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.411063	0.90574	31	0.99957276297572628	0.99981	0.99859	0.99866	D	AEFDBI	0.953844	0.97048	D	0.895609814481584	0.91543	10.93695	0.903831306916432	0.95736	13.91645	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	9.099000	0.93565	8.635000	0.77869	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.928	0.97108	378	0.83833	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1444.98	39	chr11	57796896	.	G	A	1444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.504;DP=915;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=0.731;SOR=0.773	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1459,0,1431	20	0	1	0
chr11	59093952	59093952	G	T	exonic	GLYATL1B	.	nonsynonymous SNV	GLYATL1B:NM_001355566:exon4:c.G332T:p.G111V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs563991825	2.257e-05	2.314e-05	1.656e-05	2.758e-05	0.0003	1.203e-05	9.5e-06	1.581e-05	8.38e-06	0	0	0	0	0	0.0003	1.933e-05	6.909e-05	5.96e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.538	0.09829	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.18649	.	.	.	.	.	.	.	0.09707844	0.17459	T	.	.	.	.	.	.	.	.	.	0.04695298924126916	0.04638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.662434	0.27137	T	0.041321546	0.06064	0.10214707	0.24475	0.041321546	0.06063	0.10214707	0.24475	-1.105	0.01123	T	.	.	0.188	0.40489	B	.	.	0.729875	0.10990	7.652	0.43266887562818179	0.03246	0.00633	0.02779	N	AEFGI	.	.	.	.	.	.	.	.	.	0.905092077586192	0.26195	0.163922	0.03765	0	0.156668	0.03792	0	0.10224	0.03073	0	0.075334	0.01956	0	0.0506562	0.09881	1.96	-1.32	0.08721	-0.532000	0.06252	-0.527000	0.08657	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.3613:0.0:0.3737:0.265	1.951	0.03163	628	0.65206	Glycine N-acyltransferase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1114.98	35	chr11	59093952	.	G	T	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.170e-01;DP=822;ExcessHet=0.0000;FS=2.523;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.95;MQRankSum=-2.043e+00;QD=10.72;ReadPosRankSum=-1.279e+00;SOR=0.960	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1129,0,1290	20	0	1	0
chr11	59172708	59172708	C	T	exonic	DTX4	.	nonsynonymous SNV	DTX4:NM_015177:exon1:c.C113T:p.P38L,	.	.	.	.	.	.	.	.	.	.	.	3431033	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.001	B	.	.	1.000	D	0.205	N	1.03	T	-1.098	T	0.056	T	0.1	1.950	12.48	3.21	0.838	0.986	9.345	0.071	0.134311941727	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	5.82e-05	9	154602	rs765272910	3.86e-05	3.899e-05	3.426e-05	4.298e-05	0.0007	3.048e-05	2.74e-05	0.0002	0.0002	0	0	0	0	0	0.0007	1.984e-05	6.687e-05	0.0003	4.614e-05	4.598e-05	2.576e-05	6.749e-05	0.0004	2.115e-05	1.531e-05	7.299e-05	3.032e-05	0	0	0	0	0	0	0	7.367e-05	0	0.0004	0.289	0.15047	T	0.621	0.07419	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999982	0.81001	D	2.045	0.56016	M	1.03	0.40469	T	-1.94	0.45042	N	0.136	0.13341	-1.0978	0.04367	T	0.056	0.23413	T	9	0.059616238	0.07195	T	0.134312	0.81673	D	0.071	0.20720	0.525	0.62967	0.382940591053	0.37911	0.7394737173334882	0.73892	0.575609084171	0.53551	0.921503186226	0.98436	D	0.05249	0.29175	T	-0.476988	0.00770	T	-0.602927	0.12566	T	0.0509946439815075	0.05673	T	0.752425	0.37456	T	0.09265665	0.21743	0.17561732	0.40039	0.09265665	0.21743	0.17561732	0.40039	-5.328	0.40219	T	.	.	0.232	0.46447	B	.	.	3.977069	0.58442	24.0	0.98651950597633342	0.44206	0.19893	0.20836	N	ALL	0.116386	0.22845	N	-0.745359071149468	0.14759	0.7379818	-0.666992742836865	0.17789	0.9474105	0.999999999969643	0.74766	0.455138	0.09556	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56751	0.32155	0	.	.	4.13	3.21	0.35933	1.681000	0.37234	6.993000	0.57168	0.522000	0.23927	0.118000	0.23139	1.000000	0.68203	0.996000	0.76049	0.0:0.8944:0.0:0.1056	9.345	0.37262	618	0.66225	WWE domain|WWE domain|WWE domain, subgroup	.	.	.	.	.	Uncertain significance	0	0	0	0	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	1126.98	33	chr11	59172708	.	C	T	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.228e+00;DP=781;ExcessHet=0.0000;FS=0.820;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.914;SOR=0.577	GT:AD:DP:GQ:PL	0/1:35,52:87:99:1141,0,762	20	0	1	0
chr11	61339326	61339326	G	A	exonic	TKFC	.	nonsynonymous SNV	TKFC:NM_001351977:exon5:c.G377A:p.R126Q	.	.	433	1087	2	0	0	2	0.000919118	.	.	3346050	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.05	B	0.109	B	0.001	N	1.000	N	1.72	L	1.48	T	-1.050	T	0.062	T	0.079	3.339	17.24	-0.792	-0.457	1.860	6.221	0.058	0.0117516700259	.	.	8.356e-06	0	0	0	0	1.528e-05	0	0	6.5e-06	1	154602	rs750037556	3.147e-05	3.147e-05	2.451e-05	3.851e-05	0.0005	2.413e-05	2.158e-05	0.0001	7.541e-05	0	4.472e-05	0	0	0	0.0005	3.417e-05	1.656e-05	2.319e-05	2.628e-05	2.626e-05	5.138e-05	0	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.171	0.25664	T	0.06	0.47581	T	0.031	0.20130	B	0.109	0.31370	B	0.001042	0.40475	N	0.250144	0.595796	0.30982	N	.	.	.	1.48	0.31731	T	-2.34	0.59226	N	0.178	0.19190	-1.0501	0.14369	T	0.062	0.25851	T	10	0.17458877	0.32346	T	0.011752	0.29684	T	0.058	0.16647	.	.	0.159798565429	0.15598	0.49981964076163404	0.49902	0.265355236871	0.29086	0.217150896788	0.01152	T	0.143327	0.47939	T	-0.402938	0.02215	T	-0.636273	0.09943	T	0.136922477290511	0.16007	T	0.720728	0.66592	T	0.07955872	0.18183	0.1133717	0.27361	0.07955872	0.18183	0.1133717	0.27361	-6.492	0.50224	T	.	.	0.079	0.08802	B	.;.;.	.;.;.	1.513318	0.19439	14.26	0.9942177579028415	0.63790	0.90001	0.50845	D	AEFDBI	0.441703	0.49973	N	-0.518623092572485	0.21477	1.140118	-0.442504162170972	0.23762	1.297549	0.998852967327419	0.37823	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.25	-0.792	0.10374	1.924000	0.39695	-0.093000	0.12034	-0.739000	0.03678	1.000000	0.71638	0.001000	0.17328	0.582000	0.30943	0.3734:0.0:0.5147:0.1119	6.221	0.19895	728	0.54609	DhaK domain|DhaK domain;DhaK domain|DhaK domain;DhaK domain|DhaK 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	1758.98	35	chr11	61339326	.	G	A	1758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.08;DP=1044;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-4.520e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:65,65:130:99:1773,0,1489	20	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.984	D	0.956	D	0.000	D	1.000	D	1.895	L	1.75	T	-0.929	T	0.147	T	0.816	4.674	25.8	4.41	2.173	9.720	17.371	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	7460.77	117	chr11	61740527	.	G	C	7460.77	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.620e+00;DP=2290;ExcessHet=20.9642;FS=238.697;InbreedingCoeff=-0.6474;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=0.887;SOR=12.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,28:103:99:0|1:61740527_G_C:485,0,2418:61740527	4	0	16	1
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.948	P	0.588	P	0.000	D	1.000	D	1.5	L	1.82	T	-1.071	T	0.080	T	0.919	3.976	20.4	4.41	1.764	6.186	13.945	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11271.74	121	chr11	61740531	.	T	C	11271.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.350e+00;DP=2360;ExcessHet=54.0936;FS=275.616;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.98;ReadPosRankSum=0.649;SOR=13.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,29:103:99:0|1:61740527_G_C:495,0,2383:61740527	0	0	21	0
chr11	62518174	62518174	T	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A16243G:p.T5415A	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.019	B	0.808	N	1.000	N	-0.37	N	5.6	T	-0.917	T	0.001	T	0.121	-2.981	0.001	-8.1	-1.439	-1.776	5.234	0.043	0.00613340138201	0.0004	0.000599042	0.0003	0	0.0006	0	0	0.0004	0	0	0.0003234	50	154602	rs11231126	0.0005	0.0005	0.0004	0.0005	0.0014	0.0004	0.0004	0.0007	0.0005	0.0001	0.0007	0.0007	0	0	0.0014	0.0005	0.0004	4.637e-05	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0007	0.0006	9.658e-05	0	0.0007	0	0	0	0.0034	0.0008	0.0005	0	1.0	0.00964	T	0.72	0.05345	T	0.004	0.12183	B	0.019	0.18783	B	0.808425	0.06812	N	1.142370	1	0.08975	N	0.03	0.08032	N	5.6	0.00825	T	-1.21	0.30762	N	0.064	0.03613	-0.9167	0.45997	T	0.001	0.00318	T	10	0.0036427677	0.00067	T	0.006133	0.16052	T	0.043	0.11576	.	.	0.0482279557977	0.04254	0.10253187904966532	0.10183	0.0252877464739	0.02574	0.202656537294	0.00538	T	0.060196	0.31322	T	-0.609884	0.00127	T	-0.724246	0.04594	T	0.0145291981044209	0.00297	T	0.412859	0.10744	T	0.033250626	0.03505	0.031455915	0.01737	0.033250626	0.03505	0.031455915	0.01736	-1.929	0.02924	T	.	.	0.070	0.03661	B	.	.	-0.267617	0.02762	0.372	0.10202735489824774	0.00123	0.01069	0.03960	N	AEFBI	.	.	.	-2.10865655884178	0.00123	0.005244964	-2.13797415557105	0.00154	0.006768702	0.999999971553687	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.69	-8.1	0.00957	-0.483000	0.06616	.	.	-0.188000	0.09543	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.096:0.4112:0.0891:0.4037	5.234	0.14755	217	0.91564	.	.	.	.	.	.	Uncertain significance	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	1750.98	46	chr11	62518174	.	T	C	1750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.49;DP=1066;ExcessHet=0.0000;FS=1.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=-1.980e-01;SOR=0.602	GT:AD:DP:GQ:PL	0/1:103,67:170:99:1765,0,2735	20	0	1	0
chr11	64000281	64000281	T	C	exonic	MACROD1	.	nonsynonymous SNV	MACROD1:NM_014067:exon5:c.A610G:p.S204G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.325	U	1.000	N	-3.005	N	2.05	T	-0.958	T	0.006	T	0.086	0.105	4.563	2.67	0.614	1.163	3.977	0.102	0.0337110212741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.325434	0.14201	U	0.600535	0.99722	0.81001	N	-2.225	0.00116	N	2.05	0.20664	T	4.38	0.00040	N	0.118	0.10769	-0.9583	0.39497	T	0.006	0.02131	T	10	0.019934714	0.00452	T	0.033711	0.55171	D	0.102	0.29158	0.35	0.34760	0.0401082797425	0.02173	0.2711121457136292	0.27024	0.234622177888	0.26005	0.545179247856	0.45177	T	0.029991	0.21364	T	-0.304989	0.08197	T	-0.675872	0.07237	T	0.0703713595867157	0.08703	T	0.957704	0.84069	D	0.19299333	0.40990	0.088470854	0.20630	0.19299333	0.40990	0.088470854	0.20629	1.542	0.00079	T	.	.	0.074	0.04889	B	.	.	2.141140	0.27267	17.40	0.81274957222145294	0.13605	0.17710	0.19954	N	AEFDBHCIJ	0.141030	0.26309	N	-1.1513629843685	0.05757	0.2633108	-0.887482447845984	0.12390	0.6370458	0.999999970070332	0.74766	0.789315	0.99827	0	0.779548	0.99637	0	0.768056	0.98339	0	0.554799	0.18163	0	.	.	3.85	2.67	0.30756	0.851000	0.27403	4.789000	0.44887	0.580000	0.29708	0.098000	0.22752	1.000000	0.68203	0.954000	0.50415	0.0:0.1137:0.218:0.6683	3.977	0.08971	371	0.84287	Macro domain|Macro domain|Macro domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	309.98	32	chr11	64000281	.	T	C	309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.995e+00;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.54;ReadPosRankSum=0.070;SOR=0.597	GT:AD:DP:GQ:PL	0/1:38,18:56:99:324,0,1034	20	0	1	0
chr11	64355623	64355623	G	A	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon26:c.G4370A:p.R1457Q,	.	.	428	1068	25	1	0	27	0.0124827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.089	B	0.004	B	.	.	1.000	N	0.895	L	1.92	T	-1.030	T	0.036	T	0.196	2.609	14.69	1.87	0.872	0.977	4.694	0.013	0.00789826133485	0.0010	0.000199681	0.0014	0.0003	0.0021	0	0.0002	0.0018	0.0061	0.0011	0.0013001	201	154602	rs61738780	0.0010	0.0010	0.0010	0.0011	0.0341	0.0010	0.0010	0.0302	0.0287	0.0006	0.0015	0.0108	2.524e-05	0.0001	0.0341	0.0006	0.0026	0.0007	0.0013	0.0013	0.0014	0.0012	0.0018	0.0011	0.0011	0.0013	0.0011	0.0002	0.0209	0.0018	0.0115	0	0.0002	0.0102	0.0012	0.0047	0.0008	0.192	0.33254	T	0.244	0.24123	T	0.089	0.25085	B	0.004	0.10090	B	.	.	.	.	0.999995	0.08975	N	1.3	0.32576	L	1.92	0.23082	T	-0.13	0.50502	N	0.169	0.18649	-1.0297	0.20551	T	0.036	0.15640	T	9	0.0052429438	0.00114	T	0.007898	0.20955	T	0.014	0.01968	.	.	0.15556083564	0.15200	0.05851753216562489	0.05792	0.307009449586	0.33004	0.234686657786	0.02333	T	0.001166	0.00668	T	-0.341553	0.05280	T	-0.288021	0.45978	T	0.00879350879709393	0.00108	T	0.750425	0.37198	T	0.018738678	0.00396	0.031751476	0.01808	0.018738678	0.00396	0.031751476	0.01808	-3.202	0.12628	T	.	.	0.092	0.13503	B	.;.	.;.	2.422020	0.31145	18.65	0.99385033340285744	0.62068	0.17497	0.19862	N	AEFDGBHCI	0.069256	0.13700	N	-0.502872519806394	0.21986	1.170848	-0.426668772490506	0.24218	1.324966	0.999999980921071	0.74766	0.730579	0.87903	0	0.635938	0.57008	0	0.749866	0.98131	0	0.721622	0.92947	0	.	.	3.95	1.87	0.24559	0.534000	0.22807	3.797000	0.39853	-0.695000	0.04090	0.395000	0.26129	1.000000	0.68203	0.606000	0.31539	0.3025:0.0:0.6975:0.0	4.694	0.12179	457	0.78953	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1201.98	34	chr11	64355623	.	G	A	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.878;DP=813;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=0.896;SOR=0.592	GT:AD:DP:GQ:PL	0/1:69,52:121:99:1216,0,1722	20	0	1	0
chr11	65551467	65551467	C	T	exonic	LTBP3	.	nonsynonymous SNV	LTBP3:NM_001130144:exon10:c.G1556A:p.S519N	Dental anomalies and short stature, Autosomal recessive	.	0	1500	22	0	0	22	0.00727995	.	.	1525194	Brachyolmia-amelogenesis_imperfecta_syndrome|Inborn_genetic_diseases	MONDO:MONDO:0011018,MedGen:C1832594,OMIM:601216,Orphanet:2899|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.49	T	0.168	B	0.099	B	0.400	N	1.000	N	1.04	L	-1.36	T	-0.871	T	0.311	T	0.075	1.973	12.56	-0.409	0.047	0.056	6.125	0.152	0.0861708774913	.	0.00179712	0.0007	0	8.684e-05	0	0	3.03e-05	0	0.0052	0.0006404	99	154602	rs570380350	0.0004	0.0004	0.0002	0.0005	0.0055	0.0004	0.0004	0.0051	0.0049	0	0	0	5.038e-05	0	0.0016	4.946e-05	0.0005	0.0055	0.0002	0.0002	0.0002	0.0003	0.0062	0.0002	0.0002	0.0045	0.0039	2.407e-05	0	6.539e-05	0	0	0	0	5.881e-05	0	0.0062	0.187	0.24564	T	0.208	0.26969	T	0.145	0.27759	B	0.099	0.30579	B	0.400142	0.04529	N	1.416120	1	0.08975	N	1.355	0.33814	L	-1.4	0.81150	T	-0.57	0.19720	N	0.122	0.14905	-0.8711	0.50446	T	0.311	0.68175	T	10	0.0053569376	0.00118	T	0.086171	0.74682	D	0.152	0.39956	0.277	0.23004	0.661277560528	0.65843	0.41550788690554474	0.41466	.	.	0.349294781685	0.17819	T	0.096512	0.39840	T	-0.481784	0.00722	T	-0.463183	0.26253	T	0.0238298148789706	0.01124	T	0.773923	0.40554	T	0.031429987	0.02981	0.048002582	0.07038	0.032936346	0.03415	0.052800663	0.08771	-5.692	0.43623	T	.	.	0.088	0.20972	B	.;.;.	.;.;.	1.444103	0.18638	13.85	0.97814607929400699	0.36155	0.06490	0.12500	N	AEFDGBHCI	0.073288	0.14654	N	-0.869197293666338	0.11580	0.5596304	-0.876713039163787	0.12647	0.6517537	0.99999999232414	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.584781	0.30282	0	0.714379	0.83352	0	.	.	4.56	-0.409	0.11761	0.062000	0.14264	1.951000	0.29885	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.984000	0.60418	0.476:0.3896:0.1344:0.0	6.125	0.19393	290	0.88477	.;.;.	.	.	.	.	.	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	581.98	33	chr11	65551467	.	C	T	581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.810e-01;DP=734;ExcessHet=0.0000;FS=1.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=-1.328e+00;SOR=0.963	GT:AD:DP:GQ:PL	0/1:30,23:53:99:596,0,800	20	0	1	0
chr11	65557857	65557857	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/2:9,0,14,3:26:99:569,572,936,0,376,334,422,787,248,766	10	0	4	0
chr11	65557857	65557857	-	CAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTG:p.L35_G36insL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/2:9,0,14,3:26:99:569,572,936,0,376,334,422,787,248,766	10	0	4	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	0/1:21,33,0,0:54:99:1284,0,783,1347,882,2229,1347,882,2229,2229	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	0/1:95,41:136:81:.:.:81,0,1614	8	0	12	1
chr11	70325524	70325524	C	T	exonic	PPFIA1	.	nonsynonymous SNV	PPFIA1:NM_001378006:exon5:c.C556T:p.L186F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.942	P	0.843	P	0.006	U	0.995	D	2.24	M	0.98	T	-0.730	T	0.200	T	0.627	3.831	19.45	4.19	1.138	1.407	8.525	0.209	0.0205606230066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.386e-06	2.053e-06	0	2.781e-06	1.826e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.826e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.559	0.52977	P	0.701	0.60313	P	0.006406	0.32054	U	0.193970	0.99496	0.42488	D	2.265	0.64440	M	0.98	0.42122	T	-3.35	0.66436	D	0.739	0.73916	-0.7296	0.58984	T	0.200	0.55555	T	10	0.48158023	0.60463	T	0.020561	0.43179	T	0.209	0.49871	0.259	0.20159	0.424008860402	0.42018	0.3626377871181502	0.36177	0.76799639243	0.64618	0.812693417072	0.83906	D	0.413768	0.76753	T	-0.014331	0.49658	T	-0.258362	0.48987	T	0.979316532611847	0.72768	D	0.988601	0.96130	D	0.25011766	0.48012	0.34691197	0.60353	0.25011766	0.48012	0.34691197	0.60353	-13.736	0.92167	D	.	.	0.829	0.78989	P	.;.	.;.	4.159751	0.62465	24.5	0.99873922477131083	0.95160	0.89456	0.49932	D	AEFBI	0.153597	0.27848	N	0.259333758224046	0.54102	3.576677	0.203659963657009	0.50049	3.20118	0.999990652356261	0.74766	0.732398	0.92422	0	0.546412	0.12157	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.12	4.19	0.48645	1.191000	0.31747	4.531000	0.43726	0.530000	0.24713	0.606000	0.27796	1.000000	0.68203	0.990000	0.65344	0.154:0.7697:0.0:0.0763	8.525	0.32462	653	0.62661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1382.98	33	chr11	70325524	.	C	T	1382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.406;DP=854;ExcessHet=0.0000;FS=3.498;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-4.470e-01;SOR=0.444	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1397,0,1106	20	0	1	0
chr11	72016041	72016041	C	G	exonic	NUMA1	.	nonsynonymous SNV	NUMA1:NM_006185:exon15:c.G1462C:p.A488P	Leukemia, acute promyelocytic, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.664	P	0.189	B	0.120	N	1.000	N	1.59	L	2.6	T	-1.024	T	0.089	T	0.392	3.305	17.11	0.087	0.051	0.094	5.867	0.108	0.0167123708693	.	0.000199681	8.257e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs556436417	1.368e-06	1.368e-06	2.723e-06	0	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	1.313e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.534e-05	0	0.0002	0	0	0	0	0	0.086	0.37966	T	0.163	0.31125	T	0.118	0.41009	B	0.136	0.36295	B	0.119599	0.19068	N	0.526155	1	0.81001	D	2.39	0.68882	M	2.6	0.49068	T	-1.94	0.53096	N	0.245	0.28965	-1.0245	0.22246	T	0.089	0.34160	T	10	0.08919382	0.15428	T	0.016712	0.38094	T	0.108	0.30607	0.054	0.00134	0.34936206512	0.34543	0.2939430198110377	0.29307	0.716424582878	0.61991	0.309654355049	0.11855	T	0.161761	0.57482	T	-0.216782	0.18435	T	-0.38004	0.35718	T	0.705626130104065	0.40987	D	0.881212	0.60904	D	0.27398434	0.50465	0.28336617	0.54330	0.27398434	0.50465	0.28336617	0.54329	-10.038	0.74139	D	.	.	0.481	0.64803	A	.;.;.;.;.;.	.;.;.;.;.;.	2.022338	0.25697	16.86	0.99509471557078399	0.68558	0.83935	0.43025	D	AEFGBHCI	0.399580	0.47481	N	-0.199100401297024	0.33173	1.878978	-0.166865635178497	0.32765	1.867305	0.987861424001036	0.31359	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.37	0.087	0.13761	0.150000	0.16082	.	.	0.599000	0.40250	0.984000	0.35821	0.907000	0.28067	0.967000	0.53440	0.2335:0.5657:0.0:0.2008	5.867	0.18028	538	0.73119	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	2174.98	37	chr11	72016041	.	C	G	2174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.203;DP=877;ExcessHet=0.0000;FS=2.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=1.77;SOR=0.814	GT:AD:DP:GQ:PL	0/1:65,86:151:99:2189,0,1540	20	0	1	0
chr11	74497344	74497344	C	T	exonic	LOC100287896	.	nonsynonymous SNV	LOC100287896:NM_001319240:exon2:c.C439T:p.R147C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.823e-05	0.0005	0	0	0	0	0	0	6.5e-06	1	154602	rs780783153	6.874e-05	3.499e-05	0.0001	4.026e-05	0.0002	4.512e-05	3.843e-05	4.755e-05	3.807e-05	0.0002	3.666e-05	0	0.0002	0	0	8.179e-05	0.0001	1.674e-05	9.211e-05	9.197e-05	0.0001	6.733e-05	0.0002	5.534e-05	4.37e-05	9.578e-05	6.972e-05	0.0002	0	6.55e-05	0	0	0	0	7.356e-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	473.98	30	chr11	74497344	.	C	T	473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=722;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=0.640;SOR=0.715	GT:AD:DP:GQ:PL	0/1:25,19:44:99:488,0,599	20	0	1	0
chr11	74835878	74835878	G	T	exonic	RNF169	.	nonsynonymous SNV	RNF169:NM_001098638:exon6:c.G1275T:p.E425D,	.	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.991	D	0.000	D	1.000	D	2.455	M	0.43	T	-0.387	T	0.320	T	0.604	3.935	20.1	4.12	1.555	4.116	11.187	0.320	.	.	0.00219649	0.0013	0	0.0002	0	0	7.496e-05	0.0011	0.0090	0.0011319	175	154602	rs369569812	0.0007	0.0007	0.0004	0.0009	0.0086	0.0006	0.0006	0.0081	0.0079	0	6.708e-05	0	2.519e-05	0	0.0023	0.0001	0.0008	0.0086	0.0004	0.0004	0.0002	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	4.813e-05	0	0.0001	0	0	0	0	0.0001	0	0.0091	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999978	0.53665	D	0.895	0.22405	L	0.43	0.56772	T	-1.14	0.29323	N	0.708	0.71143	-0.3870	0.72436	T	0.320	0.68960	T	10	0.009866834	0.00221	T	.	.	.	0.320	0.64215	0.448	0.50793	0.686092073669	0.68341	0.2554635684115935	0.25460	0.747522422216	0.63598	0.729810297489	0.71478	T	0.116785	0.43639	T	-0.318459	0.07025	T	-0.223682	0.52382	T	0.122595287670529	0.14681	T	0.90061	0.65471	D	0.4006415	0.60777	0.3159087	0.57575	0.4006415	0.60777	0.3159087	0.57574	-7.437	0.57165	T	.	.	0.841	0.79302	P	.	.	4.288453	0.65387	24.8	0.9985157809661398	0.93102	0.97739	0.76783	D	AEFGBI	0.555027	0.56563	D	0.52610219863704	0.68639	5.244875	0.491239616784563	0.67407	5.080047	0.997995646202725	0.36288	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.99	4.12	0.47504	4.184000	0.58121	3.508000	0.38821	-0.678000	0.04252	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1523:0.0:0.8477:0.0	11.187	0.47887	639	0.64210	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1791.98	40	chr11	74835878	.	G	T	1791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=930;ExcessHet=0.0000;FS=10.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.32;ReadPosRankSum=-1.538e+00;SOR=0.233	GT:AD:DP:GQ:PL	0/1:59,58:117:99:1806,0,1543	20	0	1	0
chr11	74848462	74848462	C	A	exonic	XRRA1	.	nonsynonymous SNV	XRRA1:NM_001378171:exon6:c.G397T:p.V133L	.	.	.	.	.	.	.	.	.	0.9840	0.79	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.980	N	2.32	M	1.03	T	-0.642	T	0.339	T	0.31	2.822	15.40	3.84	1.354	2.409	8.998	0.155	.	.	.	1.156e-05	0	0	0	0	0	0	9.526e-05	6.5e-06	1	154602	rs746507275	1.516e-05	1.642e-05	1.369e-05	1.666e-05	0.0007	9.93e-06	8.48e-06	0.0002	0.0001	0	2.288e-05	0	0	0	0.0007	1.086e-05	1.668e-05	4.697e-05	2.628e-05	2.625e-05	2.571e-05	2.687e-05	4.412e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0034	4.412e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.817	0.74454	P	0.000001	0.62929	D	0.000000	0.980045	0.39625	D	2.11	0.58565	M	0.17	0.60485	T	-1.88	0.44094	N	0.623	0.66272	-0.6420	0.63060	T	0.339	0.70526	T	10	0.621803	0.68019	D	0.06576	0.69676	D	0.155	0.40530	0.197	0.10975	0.638697055951	0.63572	0.3358150894898281	0.33494	0.0792000987712	0.08910	0.466926574707	0.34259	T	0.056151	0.30207	T	-0.047546	0.44821	T	-0.306073	0.44079	T	0.86255419254303	0.51285	D	0.779122	0.41328	T	0.39052942	0.60070	0.45884475	0.68560	0.39052942	0.60070	0.45884475	0.68560	-2.997	0.11296	T	.	.	0.557	0.69362	A	.;.;.	.;.;.	4.925329	0.81151	27.5	0.99355666822980326	0.60779	0.85696	0.44857	D	AEFDBCI	0.394118	0.47150	N	0.232929923570568	0.52800	3.452061	0.138610846177606	0.46543	2.898483	0.999333777195799	0.39185	0.460665	0.09802	0	0.577304	0.33150	0	0.536957	0.11973	0	0.491896	0.07777	0	.	.	4.75	3.84	0.43422	2.208000	0.42436	5.746000	0.49600	-0.257000	0.07002	1.000000	0.71638	1.000000	0.68203	0.152000	0.20376	0.0:0.8992:0.0:0.1008	8.998	0.35225	652	0.62785	.;.;.	.	.	.	.	.	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	1155.98	34	chr11	74848462	.	C	A	1155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.375e+00;DP=820;ExcessHet=0.0000;FS=1.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.411;SOR=0.519	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1170,0,1486	20	0	1	0
chr11	77702384	77702384	T	C	exonic	RSF1	.	nonsynonymous SNV	RSF1:NM_016578:exon6:c.A845G:p.D282G,	.	.	441	1056	21	4	0	29	0.0135451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.001	B	0.001	B	0.046	N	0.999	D	0.895	L	1.4	T	-0.431	T	0.423	T	0.273	2.171	13.22	3.43	0.998	1.681	8.596	0.126	.	0.0012	0.00299521	0.0020	9.968e-05	0.0010	0	0.0002	0.0014	0.0022	0.0079	0.0017788	275	154602	rs149599829	0.0013	0.0013	0.0010	0.0016	0.0254	0.0013	0.0012	0.0220	0.0207	0.0007	0.0005	0.0023	7.565e-05	0.0003	0.0254	0.0008	0.0023	0.0078	0.0012	0.0012	0.0011	0.0013	0.0093	0.0010	0.0010	0.0072	0.0064	0.0002	0	0.0012	0.0023	0	0.0004	0.0340	0.0011	0.0038	0.0093	0.074	0.34621	T	0.145	0.33000	T	0.001	0.07471	B	0.001	0.04355	B	0.046415	0.23442	N	0.370958	0.956621	0.46578	D	1.445	0.36358	L	-2.04	0.86415	D	-2.62	0.63090	D	0.156	0.17140	-0.4306	0.71047	T	0.423	0.76783	T	10	0.0058239996	0.00130	T	.	.	.	0.126	0.34673	.	.	0.388737156453	0.38486	0.06564192176107955	0.06503	0.0250102987337	0.02547	0.317823112011	0.13091	T	0.021387	0.33439	T	-0.34498	0.05051	T	-0.26333	0.48490	T	0.0134633381867005	0.00245	T	0.765923	0.39354	T	0.12443495	0.29197	0.14633854	0.34674	0.12443495	0.29197	0.14633854	0.34673	-4.973	0.36633	T	.	.	0.087	0.18497	B	.;.;.;.	.;.;.;.	2.676665	0.34910	19.76	0.98318563966930406	0.40212	0.91193	0.53043	D	AEFBI	0.412134	0.48233	N	-0.267957841629931	0.30392	1.694271	-0.0931855098408182	0.35671	2.066501	0.0647651325479164	0.15339	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.81	3.43	0.38372	1.231000	0.32226	4.158000	0.42192	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0687:0.1293:0.802	8.596	0.32876	533	0.73433	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2859.11	42	chr11	77702384	.	T	C	2859.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.523e+00;DP=972;ExcessHet=0.1072;FS=1.633;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=0.716;SOR=0.561	GT:AD:DP:GQ:PL	0/1:67,60:127:99:1409,0,1793	19	0	2	0
chr11	86392745	86392745	A	T	exonic	CCDC81	.	nonsynonymous SNV	CCDC81:NM_001156474:exon4:c.A503T:p.D168V,	.	.	429	1092	1	0	0	1	0.000457666	.	.	3296066	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.713	P	0.36	B	.	.	1.000	D	1.5	L	0.72	T	-1.030	T	0.121	T	0.794	0.883	8.584	4.56	0.984	6.148	10.749	0.340	0.0521492676499	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319474820	1.93e-05	1.847e-05	1.833e-05	2.028e-05	0.0004	1.321e-05	1.133e-05	6.165e-05	2.548e-05	0	0	0	0	0	0.0004	2.317e-05	0	0	2.628e-05	2.627e-05	5.139e-05	0	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.003	0.68238	D	0.083	0.41405	T	0.713	0.42139	P	0.36	0.43183	B	.	.	.	.	0.999925	0.81001	D	2.34	0.67151	M	0.72	0.50976	T	-5.63	0.86836	D	0.678	0.68516	-1.0303	0.20357	T	0.121	0.42058	T	8	0.5847764	0.66048	D	0.052149	0.64951	D	0.340	0.66202	.	.	0.479056812784	0.47537	0.8159484030185777	0.81550	0.475427852183	0.46717	0.449824810028	0.31920	T	0.117639	0.43787	T	-0.0388504	0.46119	T	-0.0782473	0.65032	T	0.482591927051544	0.31992	T	0.823718	0.48487	T	0.45384982	0.64285	0.6373813	0.78825	0.45384982	0.64285	0.6373813	0.78826	-11.44	0.82016	D	.	.	0.393	0.59171	A	.	.	3.775543	0.54258	23.5	0.76350062237108207	0.11433	0.92427	0.55687	D	AEFI	0.672898	0.63914	D	-0.0786640535769493	0.38330	2.24324	-0.043738936825297	0.37763	2.215446	0.663387597057153	0.22295	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.69	4.56	0.55644	6.458000	0.73425	8.035000	0.76290	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.9243:0.0:0.0757:0.0	10.749	0.45395	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1438.98	33	chr11	86392745	.	A	T	1438.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e-01;DP=801;ExcessHet=0.0000;FS=1.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=1.35;SOR=0.499	GT:AD:DP:GQ:PL	0/1:46,58:104:99:1453,0,1146	20	0	1	0
chr11	89444196	89444196	T	C	exonic	NOX4	.	nonsynonymous SNV	NOX4:NM_001291929:exon4:c.A311G:p.N104S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	B	0.235	B	0.001	N	1.000	D	1.925	M	-2.72	D	0.056	D	0.655	D	0.023	2.463	14.19	4.04	0.918	1.339	10.083	0.367	0.21702248187	.	.	5.79e-05	0	0	0.0005	0	3.008e-05	0.0011	0	4.53e-05	7	154602	rs753230366	3.011e-05	3.01e-05	1.77e-05	4.264e-05	0.0002	2.282e-05	2.033e-05	0.0001	8.778e-05	0	0	0.0008	0.0002	1.872e-05	0	7.196e-06	8.281e-05	0	1.972e-05	1.969e-05	1.286e-05	2.689e-05	0.0004	5.24e-06	2.45e-06	6.862e-05	2.87e-05	0	0	6.551e-05	0	0.0004	0	0	0	0	0	0.118	0.28148	T	0.488	0.37310	T	0.073	0.31319	B	0.074	0.38432	B	0.001470	0.38917	N	0.276160	0.989858	0.81001	D	2.37	0.68279	M	-2.72	0.90622	D	-1.96	0.47008	N	0.341	0.38232	0.056	0.83358	D	0.655	0.87996	D	9	0.36495686	0.53027	T	0.217022	0.87588	D	0.367	0.68670	0.815	0.92992	0.880952075582	0.87978	0.3759652565613953	0.37510	0.0440837947747	0.04745	0.436702549458	0.30127	T	0.272867	0.64528	T	-0.30522	0.08175	T	-0.37588	0.36204	T	0.0564761804603757	0.06601	T	0.853715	0.53946	D	0.034224413	0.03801	0.05589514	0.09889	0.034224413	0.03800	0.05589514	0.09889	-10.09	0.74775	D	.	.	0.094	0.30529	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.812079	0.23026	15.86	0.98835363619644745	0.47018	0.79950	0.39722	D	AEFDBI	0.429109	0.49236	N	-0.144105177002451	0.35487	2.038904	-0.0290017578959833	0.38411	2.262617	0.999984943330519	0.51787	0.732398	0.92422	0	0.573888	0.26702	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.16	4.04	0.46262	1.479000	0.35061	2.862000	0.35209	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0813:0.0:0.9187	10.083	0.41574	906	0.23090	.;.;.;Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain;.;.;Ferric reductase transmembrane component-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1304.98	35	chr11	89444196	.	T	C	1304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.665;DP=824;ExcessHet=0.0000;FS=2.185;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=-1.100e-01;SOR=0.857	GT:AD:DP:GQ:PL	0/1:79,57:136:99:1319,0,1921	20	0	1	0
chr11	93699651	93699651	G	A	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon15:c.G4739A:p.R1580H,	.	.	.	.	.	.	.	.	.	.	.	713254	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.489	P	0.007	B	0.932	N	1.000	N	0	N	2.13	T	-1.017	T	0.019	T	0.227	0.013	4.079	-0.647	-0.047	-0.147	4.584	0.005	0.0161673775141	0.0004	.	0.0016	0	0	0	0.0055	0.0028	0	0.0001	0.0003105	48	154602	rs202195781	0.0016	0.0016	0.0015	0.0017	0.0018	0.0016	0.0015	0.0017	0.0017	0.0003	0.0006	0.0002	0	0.0043	0.0004	0.0018	0.0013	0.0003	0.0013	0.0013	0.0014	0.0012	0.0023	0.0012	0.0011	0.0020	0.0019	2.406e-05	0	0.0002	0	0	0.0031	0	0.0023	0.0019	0	0.021	0.49117	D	0.281	0.21612	T	0.489	0.36925	P	0.007	0.12992	B	0.931861	0.07541	N	1.040950	1	0.08975	N	.	.	.	2.13	0.19588	T	0.13	0.05503	N	0.068	0.04072	-1.0166	0.24819	T	0.019	0.08173	T	10	0.0057857037	0.00129	T	0.016167	0.37293	T	0.005	0.00259	.	.	0.0138822411134	0.00435	0.053132961293230134	0.05255	0.103024876547	0.11653	0.220037311316	0.01312	T	0.00526	0.04708	T	-0.594678	0.00157	T	-0.626998	0.10643	T	0.0197853442473981	0.00680	T	0.321368	0.06521	T	0.034950886	0.04022	0.031583913	0.01768	0.034950886	0.04022	0.031583913	0.01768	-2.734	0.07593	T	.	.	0.088	0.11845	B	.	.	1.122897	0.15086	11.58	0.81130710269825457	0.13534	0.03395	0.08508	N	AEFBI	0.040712	0.06093	N	-1.12670761669533	0.06172	0.2834006	-1.17828875029594	0.06273	0.3014731	0.0392426421148575	0.14385	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.63	-0.647	0.10892	0.024000	0.13447	-1.246000	0.05919	-0.231000	0.07715	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4156:0.3095:0.2749	4.584	0.11668	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2309.98	40	chr11	93699651	.	G	A	2309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=913;ExcessHet=0.0000;FS=1.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=-1.489e+00;SOR=0.578	GT:AD:DP:GQ:PL	0/1:93,87:180:99:2324,0,2383	20	0	1	0
chr11	96092217	96092219	TGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1812_1814del:p.Q621del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	82727.93	103	chr11	96092210	.	TTGCTGCTGC	T,TTGCTGC	82727.93	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-1.300e-01;DP=3240;ExcessHet=0.3300;FS=2.351;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.99;MQRankSum=0.00;QD=26.30;ReadPosRankSum=0.083;SOR=1.120	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,128,0:130:99:.:.:5438,389,0,5451,396,5558	0	17	3	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|2:107,0,34:141:99:0|1:106010659_C_G:113,431,3881,0,3450,3357:106010659	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|2:107,0,34:141:99:0|1:106010659_C_G:113,431,3881,0,3450,3357:106010659	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|1:107,34:141:99:0|1:106010659_C_G:113,0,3357:106010659	2	0	13	6
chr11	106054142	106054142	A	C	exonic	KBTBD3	.	nonsynonymous SNV	KBTBD3:NM_001330359:exon3:c.T310G:p.L104V	.	.	441	1075	6	0	0	6	0.00278293	.	.	3272178	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.425	B	0.136	B	0.011	N	1.000	N	1.355	L	-0.35	T	-0.842	T	0.186	T	0.379	0.509	6.757	-2.29	-0.297	0.387	14.067	0.112	0.0397538975148	0.0002	0.000199681	0.0003	0	0.0008	0	0	0.0002	0	0.0006	0.0002199	34	154602	rs138578492	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0.0001	0.0005	7.659e-05	0	0	0.0017	0.0001	0.0002	0.0007	0.0001	0.0001	0.0001	0.0002	0.0006	8.658e-05	7.251e-05	0.0002	8.989e-05	0.0002	0	0	0	0	0	0	0.0001	0	0.0006	0.164	0.23360	T	0.191	0.31427	T	.	.	.	.	.	.	0.011081	0.29665	N	0.351372	1	0.08975	N	.	.	.	-0.35	0.68616	T	0.45	0.03191	N	0.371	0.52829	-0.8424	0.52486	T	0.186	0.53526	T	10	0.048363566	0.04276	T	0.039754	0.58991	D	0.112	0.31546	.	.	0.581788271231	0.57850	0.19960741259531312	0.19877	0.18827095744	0.21156	0.558083176613	0.46996	T	.	.	.	-0.321387	0.06785	T	-0.341942	0.40125	T	0.0172024555853503	0.00463	T	0.824917	0.48720	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02065	B	.;.;.	.;.;.	0.862815	0.12354	8.891	0.80704294782379948	0.13329	0.65886	0.32889	D	AEI	0.122978	0.23837	N	-0.728637916359737	0.15220	0.7651369	-0.674978886877872	0.17588	0.9358457	3.44076391546184E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.86	-2.29	0.06419	0.609000	0.23935	0.867000	0.22280	-0.562000	0.04833	0.994000	0.38300	0.976000	0.30059	0.975000	0.56047	0.5717:0.0:0.4283:0.0	14.067	0.64357	748	0.52143	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	861.98	38	chr11	106054142	.	A	C	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=819;ExcessHet=0.0000;FS=2.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=1.32;SOR=1.138	GT:AD:DP:GQ:PL	0/1:59,32:91:99:876,0,1688	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	0/1:61,52:113:99:1392,0,1472	18	0	3	0
chr11	117428539	117428539	G	A	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_020693:exon33:c.C5951T:p.A1984V,	.	.	467	1051	4	0	0	4	0.00189934	.	.	1870606	not_specified|not_provided|DSCAML1-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.361	B	0.156	B	.	.	0.976	D	0	N	-0.01	T	-0.954	T	0.124	T	0.346	2.112	13.02	3.85	0.962	7.199	14.321	0.158	0.466210098701	.	.	0.0006	0	0	0	0	0.0006	0	0.0008	0.0001358	21	154602	rs760492346	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	0.0001	0.0014	0.0010	3.258e-05	0.0002	0	0	4.263e-05	0.0025	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	8.076e-05	0.0004	9.16e-05	7.713e-05	0.0001	7.908e-05	2.412e-05	0	0.0001	0	0	0	0.0068	0.0002	0.0009	0.0004	0.177	0.22746	T	0.181	0.31026	T	.	.	.	.	.	.	.	.	.	.	0.975909	0.39229	D	.	.	.	-0.01	0.63403	T	-1.05	0.29525	N	0.246	0.32148	-0.9537	0.40327	T	0.124	0.42673	T	9	0.09348783	0.16549	T	0.46621	0.94600	D	0.158	0.41098	.	.	0.619695279946	0.61661	0.27005283642960815	0.26918	0.00832187510535	0.00754	0.86537539959	0.91901	D	.	.	.	-0.0113619	0.50076	T	-0.254097	0.49413	T	0.0852401710544109	0.10644	T	0.814619	0.46840	T	.	.	.	.	.	.	.	.	-5.406	0.40977	T	.	.	0.147	0.32469	B	.;.	.;.	3.530975	0.49542	22.8	0.99579486933977424	0.72921	0.98155	0.80075	D	AEFBI	0.758398	0.69705	D	-0.202927074104933	0.33014	1.868289	-0.0723673569025499	0.36538	2.127603	0.889404668155575	0.25812	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.8	3.85	0.43556	6.360000	0.73005	9.516000	0.80927	0.484000	0.22197	0.981000	0.35396	1.000000	0.68203	0.970000	0.54328	0.0:0.1501:0.8499:0.0	14.321	0.66044	848	0.35897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	420.18	13	chr11	117428539	.	G	A	420.18	.	AC=2;AF=0.048;AN=42;DP=333;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9364;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.32;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,13:13:39:1|1:117428522_G_A:448,39,0:117428522	20	1	0	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	2/2:0,0,108:108:99:.:.:4685,4685,4685,334,334,0	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	2/2:0,0,108:108:99:.:.:4685,4685,4685,334,334,0	1	0	0	0
chr11	124694413	124694413	T	-	exonic	SPA17	.	frameshift deletion	SPA17:NM_017425:exon5:c.423delT:p.L142Ffs*23,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3732.05	33	chr11	124694412	.	GT	G	3732.05	.	AC=2;AF=0.048;AN=42;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.88;SOR=0.804	GT:AD:DP:GQ:PL	1/1:0,93:93:99:3760,280,0	20	1	0	0
chr11	126001826	126001826	G	C	exonic	CDON	.	nonsynonymous SNV	CDON:NM_001243597:exon11:c.C2051G:p.T684S	Holoprosencephaly 11, Autosomal dominant, Isolated cases	.	0	1515	7	0	0	7	0.00230491	.	.	326403	Holoprosencephaly_11|CDON-related_disorder|not_provided	MONDO:MONDO:0013642,MedGen:C3280215,OMIM:614226,Orphanet:2162|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.576	P	0.234	B	0.010	N	0.994	D	0.975	L	0.25	T	-0.799	T	0.172	T	0.187	2.324	13.73	5.78	2.894	4.745	20.367	0.136	.	0.0068	0.00179712	0.0068	0.0017	0.0023	0	0.0192	0.0089	0.0077	0.0031	0.0066235	1024	154602	rs145983470	0.0078	0.0079	0.0079	0.0078	0.0083	0.0077	0.0077	0.0081	0.0081	0.0010	0.0022	0.0121	0	0.0207	0.0026	0.0083	0.0070	0.0030	0.0060	0.0061	0.0057	0.0064	0.0081	0.0057	0.0056	0.0076	0.0073	0.0012	0.0033	0.0037	0.0130	0.0002	0.0177	0	0.0081	0.0057	0.0029	0.043	0.41364	D	0.307	0.19908	T	0.44	0.38723	B	0.118	0.38393	B	0.009752	0.30218	N	0.231330	0.989675	0.42042	D	1.745	0.45235	L	-0.36	0.68892	T	-0.85	0.28290	N	0.142	0.21839	-0.7994	0.55179	T	0.172	0.51357	T	10	0.008403778	0.00191	T	.	.	.	0.136	0.36778	0.193	0.10437	0.790592333802	0.78865	0.1986246840339425	0.19779	0.0929520975602	0.10498	0.40309292078	0.25499	T	0.278137	0.65078	T	-0.410333	0.01977	T	-0.351804	0.38998	T	0.0136248327535857	0.00252	T	0.562644	0.19782	T	0.11263977	0.26609	0.116664514	0.28163	0.11088617	0.26206	0.11224066	0.27079	-2.398	0.05207	T	0.17843210639092488	0.22868	0.111	0.29860	B	.;.;.	.;.;.	1.994872	0.25342	16.73	0.98568010399147765	0.43063	0.97944	0.78319	D	AEFBI	0.568045	0.57339	D	0.10610886230278	0.46746	2.910418	0.252453809694907	0.52788	3.451401	0.999994851408151	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.664235	0.64389	0	.	.	5.78	5.78	0.91418	5.219000	0.65094	4.547000	0.43788	0.676000	0.76740	1.000000	0.71638	0.981000	0.30433	0.528000	0.29660	0.0:0.0:1.0:0.0	20.367	0.98884	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	0	0	0	0	0	1	0	0.04762	2538.08	35	chr11	126001826	.	G	C	2538.08	.	AC=2;AF=0.048;AN=42;DP=950;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.95;SOR=1.151	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2566,246,0	20	1	0	0
chr11	130428225	130428225	-	GCA	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insTGC:p.L21_P22insL,	.	.	0	41	77	64	44	249	0.714286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	8760.77	19	chr11	130428222	.	GGCA	G,GGCAGCA	8760.77	.	AC=21,6;AF=0.500,0.143;AN=42;BaseQRankSum=0.204;DP=554;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=21,6;MLEAF=0.500,0.143;MQ=60.00;MQRankSum=0.00;QD=28.54;ReadPosRankSum=0.132;SOR=0.702	GT:AD:DP:GQ:PL	1/1:0,12,0:12:36:531,36,0,531,36,531	3	7	5	0
chr11	130915438	130915438	T	-	exonic	SNX19	.	frameshift deletion	SNX19:NM_001347918:exon1:c.502delA:p.S168Afs*49	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2017.94	39	chr11	130915437	.	CT	C	2017.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.776e+00;DP=908;ExcessHet=0.0000;FS=2.359;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.40;ReadPosRankSum=0.199;SOR=0.506	GT:AD:DP:GQ:PL	0/1:57,59:116:99:2032,0,1946	20	0	1	0
chr11	134368709	134368709	G	A	exonic	GLB1L2	.	nonsynonymous SNV	GLB1L2:NM_001370461:exon10:c.G955A:p.G319R	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.19	H	-7.03	D	0.186	D	0.302	T	0.995	4.870	27.9	5.19	2.408	9.048	17.481	0.868	.	0.0009	0.00599042	0.0053	0.0009	0.0534	0.0003	0	0.0001	0.0044	0.0001	0.0049094	759	154602	rs138130138	0.0016	0.0016	0.0019	0.0014	0.0484	0.0016	0.0016	0.0467	0.0460	0.0004	0.0484	3.826e-05	0.0006	0	0.0010	7.464e-05	0.0017	0.0002	0.0048	0.0048	0.0039	0.0057	0.0431	0.0045	0.0044	0.0404	0.0393	0.0010	0	0.0431	0	0.0006	0	0	0.0002	0.0038	0.0006	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.055211	1	0.81001	D	4.52	0.99038	H	-7.03	0.99831	D	-7.85	0.96058	D	0.993	0.99863	0.186	0.85665	D	0.302	0.67316	T	10	0.024201661	0.00658	T	.	.	.	0.956	0.99253	0.963	0.99627	0.566010919861	0.56265	0.991033348956113	0.99098	0.73479778726	0.62922	0.673351407051	0.63315	T	0.877078	0.97393	D	0.231269	0.76841	D	0.59667	0.96961	D	0.197528954302392	0.20279	T	0.977602	0.92086	D	0.90058076	0.91434	0.8587813	0.92096	0.90058076	0.91436	0.8587813	0.92096	-10.268	0.75501	D	.	.	0.953	0.87237	P	.;.	.;.	6.525936	0.95351	34	0.99933767164601028	0.99488	0.98815	0.87215	D	AEFGBI	0.895117	0.83480	D	0.688989780491311	0.78910	6.967893	0.640589383254785	0.77913	6.771531	0.999999998746674	0.74766	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	5.19	5.19	0.71428	9.604000	0.97770	9.857000	0.82030	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	17.481	0.87567	976	0.04745	Glycoside hydrolase 35, catalytic domain;Glycoside hydrolase 35, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1930.98	39	chr11	134368709	.	G	A	1930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.162;DP=895;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-5.130e-01;SOR=0.729	GT:AD:DP:GQ:PL	0/1:62,79:141:99:1945,0,1412	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	0/1:37,32:69:99:.:.:311,0,427	3	0	18	0
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.236	N	1.000	N	-0.805	N	-0.1	T	-1.084	T	0.068	T	0.059	0.995	9.062	-3.92	-0.512	-0.125	0.780	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	304.11	40	chr12	4591262	.	T	C	304.11	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.075e+00;DP=1456;ExcessHet=1.7912;FS=131.276;InbreedingCoeff=-0.1677;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=1.08;SOR=10.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,21:71:37:.:.:37,0,1196	15	0	6	0
chr12	6451375	6451375	C	G	exonic	CD27	.	nonsynonymous SNV	CD27:NM_001242:exon6:c.C766G:p.P256A,	Lymphoproliferative syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	926719	Lymphoproliferative_syndrome_2	MONDO:MONDO:0014054,MedGen:C3554540,OMIM:615122,Orphanet:238505	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.793	P	0.283	B	0.043	N	0.990	N	1.905	M	-3.7	D	0.073	D	0.815	D	0.251	2.251	13.49	3.18	0.938	1.225	7.568	0.219	0.0590352389059	.	.	8.336e-06	0	0	0	0	1.519e-05	0	0	6.5e-06	1	154602	rs751930967	6.16e-06	6.156e-06	9.534e-06	2.752e-06	7.195e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.082	0.41573	T	0.793	0.44725	P	0.283	0.40424	B	0.042964	0.01913	N	2.274430	0.990219	0.24200	N	1.75	0.45442	L	-3.7	0.95352	D	-1.74	0.41239	N	0.182	0.19728	0.073	0.83682	D	0.815	0.93780	D	10	0.20669204	0.36939	T	0.059035	0.67525	D	0.219	0.51417	0.17	0.07536	0.987335001779	0.98719	0.1530480821452121	0.15226	0.527081435524	0.50316	0.284620076418	0.08146	T	0.443625	0.78734	T	0.0870362	0.62853	D	-0.112755	0.62391	T	0.452060878276825	0.30873	T	0.60264	0.22576	T	0.09087089	0.21277	0.1641595	0.38042	0.09087089	0.21277	0.1641595	0.38041	-2.208	0.04079	T	.	.	0.077	0.06571	B	.	.	2.809198	0.36980	20.4	0.99045116835821234	0.51118	0.35164	0.25238	N	ALL	0.142048	0.26439	N	-0.1371983375187	0.35781	2.059624	-0.217570552914268	0.30906	1.744255	0.999999999994348	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.07	3.18	0.35615	1.252000	0.32476	1.264000	0.25249	0.524000	0.24156	0.473000	0.26745	0.421000	0.24807	0.268000	0.23719	0.0:0.8831:0.0:0.1169	7.568	0.27057	861	0.33516	.	.	.	.	.	.	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	912.98	37	chr12	6451375	.	C	G	912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.508;DP=926;ExcessHet=0.0000;FS=0.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=0.156;SOR=0.518	GT:AD:DP:GQ:PL	0/1:28,36:64:99:927,0,660	20	0	1	0
chr12	6667913	6667918	TGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1187del:p.Q399_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,6,42,0,0:48:96:1844,1620,1743,220,0,96,1855,1697,234,1920,1855,1697,234,1920,1920	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	1/2:0,6,42,0,0:48:96:1844,1620,1743,220,0,96,1855,1697,234,1920,1855,1697,234,1920,1920	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	1/2:0,6,42,0,0:48:96:1844,1620,1743,220,0,96,1855,1697,234,1920,1855,1697,234,1920,1920	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	1/2:0,6,42,0,0:48:96:1844,1620,1743,220,0,96,1855,1697,234,1920,1855,1697,234,1920,1920	0	0	0	0
chr12	6778256	6778256	-	G	exonic	LAG3	.	frameshift insertion	LAG3:NM_002286:exon8:c.1445dupG:p.F483Ifs*48,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1954.94	35	chr12	6778256	.	C	CG	1954.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.340e-01;DP=828;ExcessHet=0.0000;FS=2.225;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=-4.820e-01;SOR=0.900	GT:AD:DP:GQ:PL	0/1:65,63:128:99:1969,0,2023	20	0	1	0
chr12	6850587	6850587	A	G	exonic	CDCA3	.	nonsynonymous SNV	CDCA3:NM_001297602:exon3:c.T130C:p.S44P	.	.	416	1046	57	3	0	63	0.0292343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.335	B	0.114	B	0.005	N	0.999	D	2.175	M	.	.	-0.727	T	0.186	T	0.692	4.507	24.2	5.7	2.172	4.142	8.525	0.154	.	0.0011	0.00239617	0.0042	0.0004	0.0040	0.0001	0	0.0011	0.0066	0.0231	0.003564	551	154602	rs150858074	0.0018	0.0019	0.0012	0.0025	0.0224	0.0018	0.0018	0.0216	0.0212	8.961e-05	0.0018	0.0013	2.519e-05	3.744e-05	0.0097	0.0004	0.0022	0.0224	0.0012	0.0012	0.0009	0.0015	0.0208	0.0010	0.0010	0.0175	0.0163	7.249e-05	0	0.0004	0.0020	0	9.468e-05	0.0034	0.0008	0.0009	0.0208	0.003	0.68238	D	0.005	0.72224	D	0.335	0.33330	B	0.114	0.31755	B	0.004789	0.33389	N	0.293987	0.986275	0.45182	D	2.455	0.71248	M	.	.	.	-1.81	0.57762	N	0.459	0.54496	-0.7274	0.59094	T	0.186	0.53586	T	9	0.006612748	0.00150	T	.	.	.	0.154	0.40340	.	.	0.431952752558	0.42816	0.45802854476548793	0.45720	0.78041944085	0.65269	0.532909572124	0.43444	T	0.193662	0.54920	T	-0.18533	0.22947	T	-0.021404	0.68936	D	0.0810008470602898	0.10115	T	0.793221	0.43505	T	0.46215984	0.64805	0.5441816	0.73653	0.46215984	0.64806	0.5441816	0.73653	-3.572	0.17453	T	.	.	0.448	0.62097	A	.;.;.;.;.	.;.;.;.;.	4.573058	0.72174	25.8	0.99826152259785705	0.90852	0.90070	0.50964	D	AEFDGBCI	0.816385	0.73813	D	0.245040344701089	0.53393	3.508432	0.361695448431946	0.59215	4.097542	0.999999923949678	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.7	5.7	0.88690	4.046000	0.57088	9.183000	0.79090	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9142:0.0:0.0858:0.0	8.525	0.32460	564	0.70960	.;.;.;.;.	.	.	.	.	.	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	0.04762	1881.11	34	chr12	6850587	.	A	G	1881.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.189;DP=873;ExcessHet=0.1072;FS=2.020;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=-2.600e-01;SOR=0.888	GT:AD:DP:GQ:PL	0/1:54,31:85:99:820,0,1475	19	0	2	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	4/6:0,0,0,0,32,0,25:57:99:.:.:2188,2210,2283,2210,2283,2283,2210,2283,2283,2283,991,999,999,999,891,2210,2283,2283,2283,999,2283,1214,1307,1307,1307,0,1307,1307	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	4/6:0,0,0,0,32,0,25:57:99:.:.:2188,2210,2283,2210,2283,2283,2210,2283,2283,2283,991,999,999,999,891,2210,2283,2283,2283,999,2283,1214,1307,1307,1307,0,1307,1307	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	4/6:0,0,0,0,32,0,25:57:99:.:.:2188,2210,2283,2210,2283,2283,2210,2283,2283,2283,991,999,999,999,891,2210,2283,2283,2283,999,2283,1214,1307,1307,1307,0,1307,1307	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	4/6:0,0,0,0,32,0,25:57:99:.:.:2188,2210,2283,2210,2283,2283,2210,2283,2283,2283,991,999,999,999,891,2210,2283,2283,2283,999,2283,1214,1307,1307,1307,0,1307,1307	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	4/6:0,0,0,0,32,0,25:57:99:.:.:2188,2210,2283,2210,2283,2283,2210,2283,2283,2283,991,999,999,999,891,2210,2283,2283,2283,999,2283,1214,1307,1307,1307,0,1307,1307	1	0	2	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C,	.	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.183	B	0.001	B	0.106	U	1.000	N	1.32	L	3.6	T	-0.962	T	0.014	T	0.144	0.202	5.089	-0.205	-0.048	0.062	4.703	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	1985.55	50	chr12	10930916	.	C	T	1985.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.28;DP=1409;ExcessHet=2.5830;FS=8.734;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=40.94;MQRankSum=-1.380e-01;QD=3.16;ReadPosRankSum=-4.690e-01;SOR=1.815	GT:AD:DP:GQ:PL	0/1:73,10:83:99:108,0,2183	14	0	7	0
chr12	11091537	11091538	CA	-	exonic	TAS2R43	.	frameshift deletion	TAS2R43:NM_176884:exon1:c.692_693del:p.V231Dfs*37,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	1.21e-05	4.363e-05	1.214e-05	1.206e-05	8.1e-06	7.16e-06	5.8e-06	3.48e-06	2.52e-06	0	0	0.0003	0	0	0	8.1e-06	1.789e-05	0	7.363e-06	7.922e-05	0	1.515e-05	7.483e-05	0	0	.	.	0	0	7.483e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	944.94	285	chr12	11091536	.	TCA	T	944.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.118e+00;DP=4788;ExcessHet=0.0000;FS=1.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.85;MQRankSum=-1.203e+01;QD=5.91;ReadPosRankSum=1.47;SOR=0.765	GT:AD:DP:GQ:PL	0/1:128,32:160:99:959,0,5252	20	0	1	0
chr12	11092088	11092088	G	0	exonic	TAS2R43	.	.	.	.	.	456	371	599	79	17	774	0.505003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5986.12	144	chr12	11092088	.	G	C,*	5986.12	.	AC=17,3;AF=0.405,0.071;AN=42;BaseQRankSum=-1.327e+00;DP=2170;ExcessHet=8.0185;FS=6.574;InbreedingCoeff=-0.3364;MLEAC=17,3;MLEAF=0.405,0.071;MQ=56.75;MQRankSum=-8.550e+00;QD=3.41;ReadPosRankSum=1.78;SOR=1.189	GT:AD:DP:GQ:PL	0/1:68,12,0:80:99:103,0,2046,307,2082,2389	4	3	11	0
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACAGACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATDLKVPHLQESHKDHPHKETSPE,	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0055	0.0042	0.0054	0.0017	0.0025	0	0.0074	.	.	.	.	0.0047	0.0049	0.0045	0.0050	0.0662	0.0046	0.0046	0.0612	0.0593	0.0040	0.0065	0.0131	0.0662	0.0167	0.0024	0.0033	0.0074	0.0029	0	8.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16788.62	201	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT,*	16788.62	.	AC=7,3;AF=0.250,0.107;AN=28;BaseQRankSum=1.66;DP=3976;ExcessHet=0.0004;FS=2.665;InbreedingCoeff=0.5485;MLEAC=9,4;MLEAF=0.321,0.143;MQ=53.86;MQRankSum=-5.862e+00;QD=19.17;ReadPosRankSum=-4.300e-01;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,24,0:24:48:.:.:5004,48,0,5480,607,8421	8	3	1	7
chr12	11353474	11353474	C	0	exonic	PRB1	.	.	.	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16788.62	201	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT,*	16788.62	.	AC=7,3;AF=0.250,0.107;AN=28;BaseQRankSum=1.66;DP=3976;ExcessHet=0.0004;FS=2.665;InbreedingCoeff=0.5485;MLEAC=9,4;MLEAF=0.321,0.143;MQ=53.86;MQRankSum=-5.862e+00;QD=19.17;ReadPosRankSum=-4.300e-01;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,24,0:24:48:.:.:5004,48,0,5480,607,8421	8	3	1	7
chr12	12149125	12149125	G	A	exonic	LRP6	.	nonsynonymous SNV	LRP6:NM_002336:exon14:c.C3023T:p.P1008L,	Tooth agenesis, selective, 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.175	B	0.03	B	0.001	U	1.000	D	-0.625	N	-2.81	D	-0.340	T	0.448	T	0.452	1.622	11.38	5.91	2.804	3.476	20.301	0.370	0.0604175544044	.	.	6.589e-05	0	8.637e-05	0	0	0.0001	0	0	5.17e-05	8	154602	rs763102419	3.078e-05	3.078e-05	3.131e-05	3.025e-05	3.777e-05	2.347e-05	2.095e-05	2.828e-05	2.507e-05	0	2.236e-05	0	0	0	0	3.777e-05	3.312e-05	0	3.291e-05	3.285e-05	2.573e-05	4.043e-05	7.255e-05	1.262e-05	7.99e-06	1.924e-05	1.033e-05	7.255e-05	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.086	0.32610	T	0.305	0.20037	T	0.175	0.28858	B	0.03	0.21741	B	0.000559	0.43413	U	0.098576	0.999618	0.47849	D	0.115	0.08564	N	-2.81	0.91134	D	-1.77	0.41809	N	0.229	0.25745	-0.3401	0.73841	T	0.448	0.78324	T	10	0.18688467	0.34174	T	0.060418	0.67993	D	0.370	0.68930	0.538	0.64874	0.535826458596	0.53234	0.4639593161778009	0.46314	0.534637665634	0.50860	0.593390226364	0.51973	T	0.444779	0.78805	T	-0.0713853	0.41103	T	-0.135766	0.60483	T	0.0832841446421765	0.10402	T	.	.	.	0.037954926	0.04964	0.072655015	0.15698	0.037954926	0.04964	0.072655015	0.15698	-3.579	0.17553	T	.	.	0.096	0.23952	B	.;.	.;.	3.273827	0.44829	22.0	0.97160680536740718	0.32629	0.96514	0.69520	D	AEFDBI	0.304781	0.41238	N	-0.259400883574338	0.30730	1.716219	-0.0344629152912917	0.38169	2.245008	0.701091624491579	0.22701	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	2.458000	0.44671	5.880000	0.50633	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	20.301	0.98613	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	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	1190.98	34	chr12	12149125	.	G	A	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=900;ExcessHet=0.0000;FS=3.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.47;ReadPosRankSum=-1.205e+00;SOR=1.091	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1205,0,790	20	0	1	0
chr12	21638366	21638366	T	C	exonic	LDHB	.	nonsynonymous SNV	LDHB:NM_001174097:exon6:c.A700G:p.M234V	.	.	153	1368	1	0	0	1	0.000365364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.002	B	0.011	N	0.990	D	1.785	L	-0.2	T	-0.910	T	0.169	T	0.271	1.918	12.37	0.856	0.249	0.337	5.809	0.071	0.015635208065	.	.	8.246e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs754069527	4.184e-06	6.842e-06	1.391e-06	6.991e-06	0.0002	1.51e-06	9.9e-07	9.31e-06	4.58e-06	0	0	0	0	0	0.0002	9.2e-07	1.682e-05	3.504e-05	6.589e-06	6.57e-06	1.288e-05	0	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	0.011	0.55530	D	0.067	0.44302	T	0.0	0.02946	B	0.002	0.06944	B	0.011454	0.29527	N	0.429354	0.990081	0.41084	D	1.275	0.32135	L	-0.2	0.66113	T	-1.62	0.38924	N	0.337	0.37820	-0.9102	0.46830	T	0.169	0.50939	T	10	0.30118746	0.47662	T	0.015635	0.36485	T	0.071	0.20720	0.472	0.54699	0.779214687457	0.77717	0.5991420976034186	0.59845	0.294151297255	0.31833	0.47282359004	0.35068	T	0.446393	0.78906	T	-0.153892	0.27706	T	-0.358201	0.38261	T	0.116274476051331	0.14061	T	0.549745	0.18930	T	0.41087112	0.61477	0.37464172	0.62625	0.41087112	0.61478	0.37464172	0.62625	-6.646	0.51403	T	.	.	0.156	0.34602	B	.;.	.;.	2.094711	0.26650	17.19	0.95419369161727374	0.26896	0.77826	0.38312	D	AEFBHCI	0.486444	0.52561	N	-0.312749958077849	0.28662	1.582858	-0.220905947502345	0.30787	1.736526	0.999430192498079	0.39683	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	0.856	0.18156	0.337000	0.19582	1.547000	0.27267	0.639000	0.52094	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.201:0.0:0.2691:0.53	5.809	0.17720	735	0.53711	Lactate/malate dehydrogenase, C-terminal;Lactate/malate dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1244.98	57	chr12	21638366	.	T	C	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e-01;DP=1227;ExcessHet=0.0000;FS=9.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=0.178;SOR=1.057	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1259,0,1161	20	0	1	0
chr12	32755145	32755145	C	T	exonic	YARS2	.	nonsynonymous SNV	YARS2:NM_001040436:exon1:c.G730A:p.G244R,	Myopathy, lactic acidosis, and sideroblastic anemia 2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.12	H	-3.72	D	1.088	D	0.953	D	0.995	4.597	25.0	4.97	1.496	7.556	13.462	0.967	0.359161516086	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345057239	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	4.65	0.99371	H	-3.72	0.95422	D	-7.36	0.94647	D	0.99	0.99725	1.088	0.99146	D	0.953	0.98456	D	10	0.99277556	0.99812	D	0.359162	0.92467	D	0.967	0.99571	0.983	0.99835	0.87456900688	0.87334	0.9596182592128978	0.95947	1.49302492565	0.86914	0.739516615868	0.72902	T	0.698693	0.91304	D	0.493166	0.94088	D	0.567477	0.96189	D	0.999752819538116	0.98831	D	0.971103	0.89589	D	0.97762394	0.98923	0.9908132	0.99984	0.97762394	0.98923	0.9908132	0.99984	-12.995	0.89343	D	0.8919925867649886	0.94634	0.926	0.84680	P	.	.	5.497151	0.91543	32	0.99912758973917637	0.98167	0.60995	0.31356	D	ALL	0.888545	0.82176	D	0.84934341144086	0.89071	9.82318	0.704580888815871	0.82727	7.839096	1.0	0.98316	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.273489	0.05413	2	.	.	5.86	4.97	0.65419	7.635000	0.82446	7.612000	0.61951	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.9279:0.0:0.0721	13.462	0.60683	764	0.49969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2863.98	35	chr12	32755145	.	C	T	2863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=881;ExcessHet=0.0000;FS=0.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=1.38;SOR=0.756	GT:AD:DP:GQ:PL	0/1:75,111:188:99:2878,0,1634	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	0/1:35,30,0:65:99:.:.:160,0,506,255,583,838	2	0	14	4
chr12	39764776	39764776	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528T:p.L510F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.722	P	0.519	P	0.000	D	1.000	D	1.98	M	-0.99	T	-0.129	T	0.446	T	0.785	3.086	16.31	5.39	2.533	4.151	19.172	0.489	0.0629985215375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.227	0.25362	T	0.722	0.42387	P	0.519	0.48163	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.99	0.75911	T	-1.75	0.41428	N	0.71	0.71321	-0.1290	0.79425	T	0.446	0.78221	T	10	0.69258845	0.71947	D	0.062999	0.68831	D	0.489	0.77656	0.527	0.63263	0.644369250691	0.64143	0.8989563015606465	0.89867	0.486330154237	0.47495	0.655019402504	0.60698	T	0.25826	0.62940	T	0.186182	0.72612	D	0.0296617	0.72257	D	0.980596303939819	0.73444	D	0.89551	0.63622	D	0.35904205	0.57762	0.30843896	0.56862	0.35904205	0.57763	0.30843896	0.56861	-11.185	0.80663	D	.	.	0.171	0.37633	B	.	.	4.277361	0.65129	24.8	0.99608861495682466	0.74694	0.91321	0.53298	D	AEFCI	0.719950	0.67067	D	0.487429499125516	0.66355	4.939395	0.535340465806759	0.70385	5.49735	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,30,0:65:99:.:.:160,0,506,255,583,838	2	0	14	4
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	1/1:0,984,0:984:99:32364,2952,0,32364,2952,32364	1	12	6	0
chr12	40483068	40483068	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	356058.34	934	chr12	40483068	.	G	A,*	356058.34	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.01;DP=18690;ExcessHet=0.1361;FS=0.637;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=59.71;MQRankSum=0.00;QD=24.52;ReadPosRankSum=0.509;SOR=0.620	GT:AD:DP:GQ:PL	1/1:0,908,0:908:99:30449,2723,0,30449,2723,30449	4	9	7	0
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	0/2:906,0,6,0:912:99:.:.:2192,186,37884,0,37656,37655,2672,38104,37886,40450	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	0/2:906,0,6,0:912:99:.:.:2192,186,37884,0,37656,37655,2672,38104,37886,40450	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	0/2:866,0,5:871:99:.:.:1372,150,35847,0,35692,35708	3	0	6	3
chr12	40488214	40488214	G	0	exonic	MUC19	.	.	.	.	.	648	669	143	9	53	214	0.107405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	6754.42	821	chr12	40488214	.	G	T,*	6754.42	.	AC=4,2;AF=0.125,0.063;AN=32;BaseQRankSum=4.72;DP=14240;ExcessHet=1.8958;FS=4.372;InbreedingCoeff=-0.1785;MLEAC=5,2;MLEAF=0.156,0.063;MQ=58.50;MQRankSum=-1.232e+01;QD=1.41;ReadPosRankSum=-7.774e+00;SOR=1.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:547,96,0:643:99:0|1:40488162_G_A:2384,0,22679,4031,22968,26999:40488162	10	0	4	5
chr12	40488222	40488222	A	0	exonic	MUC19	.	.	.	.	.	668	663	143	10	38	201	0.109469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	32216.33	821	chr12	40488222	.	A	G,*	32216.33	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=0.891;DP=14011;ExcessHet=3.7745;FS=5.226;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.219,0.063;MQ=58.53;MQRankSum=-1.512e+01;QD=4.86;ReadPosRankSum=-8.904e+00;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:539,88,0:627:99:0|1:40488184_G_A:2073,0,22368,3695,22633,26328:40488184	8	0	6	5
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	211896.28	821	chr12	40488224	.	A	G,T,*	211896.28	.	AC=18,2,2;AF=0.500,0.056,0.056;AN=36;BaseQRankSum=0.772;DP=14066;ExcessHet=0.3330;FS=0.000;InbreedingCoeff=0.0926;MLEAC=20,2,2;MLEAF=0.556,0.056,0.056;MQ=59.12;MQRankSum=0.00;QD=20.60;ReadPosRankSum=1.34;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:4,531,81,0:616:99:.:.:23075,3243,1782,20137,0,22337,23539,3401,22581,25982	3	6	5	3
chr12	40488231	40488231	G	0	exonic	MUC19	.	.	.	.	.	640	765	79	12	26	129	0.0630741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	25357.79	821	chr12	40488231	.	G	*,T	25357.79	.	AC=2,6;AF=0.056,0.167;AN=36;BaseQRankSum=0.517;DP=13285;ExcessHet=3.7745;FS=5.683;InbreedingCoeff=-0.2250;MLEAC=2,7;MLEAF=0.056,0.194;MQ=58.57;MQRankSum=-1.600e+01;QD=3.94;ReadPosRankSum=-8.076e+00;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:539,0,60:599:99:0|1:40488162_G_A:897,2519,25152,0,22633,22452:40488162	10	0	2	3
chr12	40488234	40488234	A	0	exonic	MUC19	.	.	.	.	.	655	769	59	13	26	111	0.0523722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	21813.94	821	chr12	40488234	.	A	T,*	21813.94	.	AC=5,2;AF=0.139,0.056;AN=36;BaseQRankSum=3.22;DP=13121;ExcessHet=2.7391;FS=7.380;InbreedingCoeff=-0.1784;MLEAC=6,2;MLEAF=0.167,0.056;MQ=58.57;MQRankSum=-1.943e+01;QD=3.85;ReadPosRankSum=-8.512e+00;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:530,49,0:582:99:.:.:462,0,22107,2058,22255,24312	11	0	5	3
chr12	40525410	40525410	C	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	436	1072	13	1	0	15	0.00694766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs563397340	0.0049	0.0036	0.0048	0.0049	0.0058	0.0048	0.0047	0.0051	0.0049	0.0009	0.0007	0.0032	0.0002	0.0032	0.0025	0.0051	0.0038	0.0058	0.0033	0.0033	0.0035	0.0030	0.0060	0.0030	0.0029	0.0047	0.0046	0.0008	0	0.0022	0.0032	0	0.0026	0.0034	0.0052	0.0033	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1567.94	33	chr12	40525409	.	AC	A	1567.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.320e-01;DP=913;ExcessHet=0.0000;FS=0.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=0.658;SOR=0.776	GT:AD:DP:GQ:PL	0/1:66,56:122:99:1582,0,1851	20	0	1	0
chr12	42119164	42119164	-	TCTACACCTGTCCCACCCGCCGGAATGCGCCACAGGGCCCGCGCTGCCAGCGCCTCTC	exonic	GXYLT1	.	stopgain	GXYLT1:NM_001099650:exon2:c.228_229insGAGAGGCGCTGGCAGCGCGGGCCCTGTGGCGCATTCCGGCGGGTGGGACAGGTGTAGA:p.L77Efs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	8.664e-05	0.0002	0	0.0002	0	0.0006	.	.	.	.	0.0031	0.0089	0.0017	0.0045	0.0063	0.0030	0.0030	0.0058	0.0057	0.0019	0.0024	0.0017	0.0037	0.0019	0.0011	0.0030	0.0031	0.0063	4.643e-05	0.0019	2.593e-05	6.791e-05	7.298e-05	2.127e-05	1.538e-05	1.935e-05	1.036e-05	7.298e-05	0	0	0	0	9.527e-05	0	4.454e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	376.92	74	chr12	42119164	.	G	GTCTACACCTGTCCCACCCGCCGGAATGCGCCACAGGGCCCGCGCTGCCAGCGCCTCTC	376.92	.	AC=3;AF=0.075;AN=40;BaseQRankSum=0.510;DP=1495;ExcessHet=0.3476;FS=54.228;InbreedingCoeff=-0.0699;MLEAC=2;MLEAF=0.050;MQ=57.56;MQRankSum=-7.410e+00;QD=1.58;ReadPosRankSum=-1.690e+00;SOR=5.900	GT:AD:DP:GQ:PL	0/1:60,11:71:99:273,0,2489	17	0	3	1
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	0/1:39,19:63:57:.:.:57,0,760	8	0	9	4
chr12	52822053	52822053	A	G	exonic	KRT79	.	nonsynonymous SNV	KRT79:NM_175834:exon9:c.T1427C:p.V476A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.329	B	0.057	B	0.162	N	1.000	N	0.69	N	-2.18	D	-0.768	T	0.349	T	0.395	1.542	11.11	3.06	0.940	1.495	5.534	0.180	0.00843040620311	.	.	8.384e-06	0	0	0	0	0	0	6.096e-05	6.5e-06	1	154602	rs746481989	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.577	0.08594	T	0.329	0.33227	B	0.057	0.26280	B	0.161575	0.17647	N	0.471995	0.999604	0.20887	N	2.075	0.57047	M	-2.18	0.86722	D	0.27	0.04306	N	0.271	0.30687	-0.7683	0.56951	T	0.349	0.71336	T	10	0.093174756	0.16467	T	0.00843	0.22307	T	0.180	0.45073	0.371	0.38176	0.53832913131	0.53483	0.29575159730917294	0.29488	0.12432472506	0.13995	0.597884535789	0.52606	T	0.00337	0.02778	T	-0.106977	0.35268	T	-0.209914	0.53704	T	0.093794971704483	0.11660	T	0.244276	0.03572	T	0.025943642	0.01591	0.033484194	0.02250	0.025943642	0.01591	0.033484194	0.02250	-4.855	0.35225	T	.	.	0.124	0.25946	B	.	.	1.298087	0.16994	12.89	0.96275056011513815	0.29263	0.08778	0.14656	N	AEFDBI	0.046560	0.07744	N	-0.584311827616364	0.19420	1.016285	-0.544594426307544	0.20948	1.131034	0.940977930453779	0.27456	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.21	3.06	0.34374	1.972000	0.40163	.	.	0.756000	0.94297	0.004000	0.16614	0.212000	0.23650	0.723000	0.34869	0.8642:0.0:0.1358:0.0	5.534	0.16289	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	652.98	39	chr12	52822053	.	A	G	652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.532;DP=794;ExcessHet=0.0000;FS=3.008;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.51;ReadPosRankSum=-4.190e-01;SOR=0.807	GT:AD:DP:GQ:PL	0/1:58,29:87:99:667,0,1563	20	0	1	0
chr12	52949315	52949315	G	C	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon1:c.G142C:p.V48L	Cirrhosis, cryptogenic, Autosomal recessive	.	400	768	347	0	7	354	0.18428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.65	P	0.223	B	0.138	N	1.000	N	2.865	M	-1.57	D	-0.406	T	0.471	T	0.427	2.081	12.91	0.954	0.219	-0.441	7.665	0.446	0.210614070419	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359140246	6.957e-07	0.0003	0	1.399e-06	3.037e-05	0	0	.	.	3.037e-05	0	0	0	0	0	0	0	0	0.0011	0.0092	0.0010	0.0012	0.0024	0.0010	0.0009	0.0013	0.0012	0.0003	0.0024	0.0008	0.0021	0	0.0016	0	0.0015	0.0016	0.0024	0.187	0.21385	T	0.404	0.14818	T	0.519	0.40644	P	0.111	0.37929	B	0.138376	0.18380	N	0.416972	1	0.81001	D	2.265	0.64440	M	-1.57	0.82347	D	-1.0	0.26422	N	0.082	0.05799	-0.4056	0.71850	T	0.471	0.79663	T	10	0.083414674	0.13874	T	0.210614	0.87261	D	0.446	0.74797	0.415	0.45380	0.860313002099	0.85896	0.7160274570190178	0.71545	0.531599379089	0.50652	0.573910236359	0.49230	T	0.147259	0.48525	T	0.0174853	0.54042	T	-0.21266	0.53441	T	0.265387445688248	0.23549	T	0.0516948	0.00385	T	0.047216356	0.08035	0.043877922	0.05557	0.047216356	0.08035	0.043877922	0.05557	-4.986	0.36687	T	0.2609872102591527	0.35238	0.319	0.56786	B	.;.;.	.;.;.	0.909457	0.12836	9.352	0.95101178256288821	0.26176	0.54699	0.29680	D	AEFDBHCI	0.804658	0.72946	D	-0.508296202011104	0.21811	1.160241	-0.604811601927955	0.19369	1.038886	0.999992841170832	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	3.79	0.954	0.18719	-0.106000	0.10860	.	.	-0.227000	0.07798	0.000000	0.06391	0.005000	0.19230	0.311000	0.24761	0.3008:0.0:0.6992:0.0	7.665	0.27595	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	15089.32	89	chr12	52949315	.	G	A,C	15089.32	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.47;DP=1835;ExcessHet=54.0936;FS=3.984;InbreedingCoeff=-1.0000;MLEAC=20,1;MLEAF=0.476,0.024;MQ=56.35;MQRankSum=-9.015e+00;QD=8.31;ReadPosRankSum=-4.930e-01;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,23,0:88:99:0|1:52949249_G_A:770,0,2660,966,2729,3695:52949249	0	0	20	0
chr12	53061154	53061154	G	A	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon20:c.G3278A:p.G1093E	.	.	416	1100	6	0	0	6	0.00271985	.	.	796799	TNS2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	0.998	D	0.899	P	0.047	N	0.790	N	1.67	L	-3.36	D	0.272	D	0.833	D	0.612	1.531	11.07	4.46	2.491	3.573	12.816	0.470	0.0795756466526	0.0005	0.000399361	0.0007	0.0001	8.673e-05	0	0	0.0011	0.0012	0.0006	0.0006533	101	154602	rs139881378	0.0005	0.0005	0.0005	0.0005	0.0014	0.0005	0.0004	0.0007	0.0005	8.987e-05	0.0003	0.0085	0	1.893e-05	0.0014	0.0003	0.0013	0.0005	0.0005	0.0005	0.0005	0.0005	0.0014	0.0004	0.0004	0.0007	0.0005	2.405e-05	0	0.0005	0.0092	0	0	0	0.0004	0.0005	0.0014	0.023	0.50132	D	0.076	0.49120	T	0.188	0.73220	B	0.135	0.63802	B	0.046646	0.23419	N	0.442226	0.790419	0.29232	N	.	.	.	-3.44	0.94469	D	-2.67	0.58407	D	0.663	0.67218	0.272	0.87102	D	0.833	0.94419	D	10	0.009141624	0.00207	T	0.079576	0.73267	D	0.470	0.76421	.	.	0.403609169532	0.39974	0.3024018777301248	0.30153	0.924845224075	0.71602	0.609047055244	0.54180	T	0.63581	0.88770	D	-0.0701058	0.41310	T	0.0279639	0.72146	D	0.0306202726066503	0.02086	T	0.910909	0.70392	D	0.2625106	0.49313	0.28004578	0.53977	0.2625106	0.49313	0.28004578	0.53976	-3.955	0.23248	T	.	.	0.131	0.41557	B	.;.;.;.;.;.	.;.;.;.;.;.	3.834872	0.55457	23.6	0.99597041628842786	0.73983	0.55988	0.30003	D	AEFDGBCI	0.428039	0.49173	N	0.0848129862562433	0.45754	2.826759	0.098532864531189	0.44475	2.728573	0.999999979874007	0.74766	0.722319	0.85440	0	0.514364	0.08380	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	4.46	4.46	0.53567	3.850000	0.55627	11.442000	0.92771	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	12.816	0.57045	759	0.50631	.;.;.;.;.;.	.	.	.	.	.	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	1737.98	36	chr12	53061154	.	G	A	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.30;DP=848;ExcessHet=0.0000;FS=1.444;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-1.624e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1752,0,1715	20	0	1	0
chr12	55321464	55321464	A	C	exonic	OR6C1	.	nonsynonymous SNV	OR6C1:NM_001005182:exon1:c.A865C:p.S289R,	.	.	428	1048	45	1	0	47	0.0219319	.	.	2807066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.575	P	0.382	B	0.000	D	1.000	N	2.71	M	1.09	T	-0.795	T	0.144	T	0.527	2.169	13.21	5.34	2.228	1.003	15.134	0.219	.	0.0052	0.00139776	0.0054	0.0010	0.0061	0.0001	0.0006	0.0076	0.0110	0.0036	0.0052005	804	154602	rs141094641	0.0051	0.0051	0.0049	0.0052	0.0314	0.0050	0.0049	0.0277	0.0262	0.0014	0.0059	0.0349	2.52e-05	0.0004	0.0314	0.0047	0.0074	0.0040	0.0046	0.0046	0.0048	0.0043	0.0059	0.0043	0.0042	0.0052	0.0050	0.0009	0	0.0059	0.0358	0	0.0005	0.0442	0.0056	0.0076	0.0052	0.0	0.91255	D	0.0	0.92824	D	0.575	0.38708	P	0.382	0.43908	B	0.000052	0.53742	D	0.080364	1	0.08975	N	2.81	0.81869	M	1.09	0.39223	T	-2.14	0.48523	N	0.595	0.61426	-0.7955	0.55409	T	0.144	0.46660	T	10	0.006237328	0.00141	T	.	.	.	0.219	0.51417	0.733	0.86633	0.670434146419	0.66765	0.4117765149494357	0.41093	0.0552029983548	0.06109	0.194632589817	0.00318	T	0.030314	0.21516	T	-0.379325	0.03146	T	-0.315454	0.43071	T	0.0654558882466003	0.07998	T	0.942106	0.78341	D	0.86085105	0.88151	0.85457575	0.91812	0.86085105	0.88153	0.85457575	0.91813	-9.011	0.67769	D	.	.	0.791	0.76883	P	.;.	.;.	2.732240	0.35768	19.98	0.9952301045189802	0.69346	0.26884	0.23121	N	AEFBI	0.104890	0.20974	N	0.076724186239751	0.45379	2.795396	0.0321144469860912	0.41215	2.472428	1.07706437557489E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	1.185000	0.31675	.	.	0.728000	0.85494	0.038000	0.20882	0.002000	0.18203	0.946000	0.48989	1.0:0.0:0.0:0.0	15.134	0.72222	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	2481.98	39	chr12	55321464	.	A	C	2481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.031e+00;DP=1110;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=-1.543e+00;SOR=0.663	GT:AD:DP:GQ:PL	0/1:80,107:187:99:2496,0,2007	20	0	1	0
chr12	55427175	55427175	-	A	exonic	OR6C76	.	frameshift insertion	OR6C76:NM_001005183:exon1:c.922dupA:p.H312Tfs*2,	.	.	20	137	43	12	14	81	0.196481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3673.16	49	chr12	55427174	.	CA	C,CAA	3673.16	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.114;DP=906;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3243;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.243;SOR=0.727	GT:AD:DP:GQ:PL	0/1:17,13,0:30:99:256,0,367,307,405,712	11	0	9	0
chr12	55452341	55452341	T	C	exonic	OR6C2	.	nonsynonymous SNV	OR6C2:NM_054105:exon1:c.T128C:p.I43T,	.	.	434	1061	25	2	0	29	0.0134821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	0.000	D	0.790	D	3.22	M	6.76	T	-1.037	T	0.008	T	0.81	3.488	17.84	5.42	2.275	7.111	14.421	0.282	0.0016528426431	0.0015	0.000998403	0.0024	9.615e-05	0.0017	0.0001	0.0005	0.0033	0.0011	0.0024	0.0022121	342	154602	rs145941340	0.0019	0.0019	0.0018	0.0020	0.0125	0.0018	0.0018	0.0102	0.0093	0.0005	0.0021	0.0105	2.52e-05	0.0002	0.0125	0.0017	0.0027	0.0026	0.0018	0.0018	0.0019	0.0017	0.0030	0.0016	0.0015	0.0023	0.0021	0.0002	0	0.0030	0.0112	0	0.0003	0.0272	0.0022	0.0005	0.0029	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.989	0.78396	D	0.000016	0.62929	D	0.000000	0.790344	0.34378	D	2.655	0.77738	M	6.76	0.00492	T	-4.51	0.78222	D	0.344	0.38541	-1.0369	0.18264	T	0.008	0.02679	T	10	0.0125878155	0.00270	T	0.001653	0.02702	T	0.282	0.59981	.	.	0.420073118136	0.41620	0.19720575795594664	0.19637	0.00552308939964	0.00483	0.307860404253	0.11583	T	0.041707	0.25945	T	-0.264687	0.12355	T	-0.157597	0.58567	T	0.0822868449318139	0.10277	T	0.868313	0.57032	D	0.6321535	0.74413	0.54170585	0.73513	0.6321535	0.74414	0.54170585	0.73513	-10.371	0.76103	D	.	.	0.712	0.73446	P	.;.;.	.;.;.	3.067158	0.41210	21.3	0.99425988388501674	0.64032	0.99092	0.91107	D	AEFI	0.676045	0.64122	D	0.625462624378572	0.74788	6.192773	0.47252562369448	0.66174	4.918085	0.0541079763769736	0.14960	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	5.926000	0.69791	.	.	0.645000	0.52629	0.993000	0.37899	0.951000	0.29025	0.001000	0.02609	0.0:0.0:0.0:1.0	14.421	0.66755	783	0.47268	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1163.98	35	chr12	55452341	.	T	C	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.483;DP=839;ExcessHet=0.0000;FS=1.425;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.56;ReadPosRankSum=-5.440e-01;SOR=0.879	GT:AD:DP:GQ:PL	0/1:84,52:136:99:1178,0,2222	20	0	1	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	B	0.014	B	.	.	1.000	N	.	.	0.86	T	-1.034	T	0.064	T	0.05	0.296	5.604	0.899	-0.131	1.411	4.156	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	801.6	63	chr12	56716773	.	G	C	801.6	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-3.814e+00;DP=1566;ExcessHet=6.1002;FS=143.092;InbreedingCoeff=-0.3330;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=1.05;ReadPosRankSum=0.671;SOR=10.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,16:82:30:.:.:30,0,1515	11	0	10	0
chr12	68315054	68315054	C	T	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G553A:p.D185N	.	.	.	.	.	.	.	.	.	.	.	2725896	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.221	B	0.033	B	0.646	N	1.000	N	0.55	N	2.0	T	-0.987	T	0.025	T	0.037	-0.180	3.125	-0.529	-0.218	0.930	5.376	0.014	0.00151025538646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1228408527	7.525e-06	7.524e-06	9.528e-06	5.5e-06	2.987e-05	4.04e-06	2.95e-06	4.55e-06	3.32e-06	2.987e-05	0	0	0	0	0	8.993e-06	0	0	6.569e-06	6.563e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.405	0.10311	T	0.329	0.18617	T	0.221	0.30336	B	0.01	0.14941	B	0.646279	0.10554	N	0.844596	1	0.08975	N	0	0.06538	N	2.0	0.21473	T	-0.2	0.10136	N	0.104	0.14622	-0.9869	0.33371	T	0.025	0.10643	T	9	0.05858156	0.06910	T	0.00151	0.02343	T	0.014	0.01968	0.238	0.16912	0.0297737177859	0.01360	0.02961286069196749	0.02910	0.0481602307982	0.05259	0.279046833515	0.07360	T	0.017805	0.14461	T	-0.388783	0.02739	T	-0.780751	0.02431	T	0.0366765771395218	0.03098	T	0.530047	0.17581	T	0.031803608	0.03088	0.024364999	0.00454	0.031803608	0.03087	0.024364999	0.00454	-4.132	0.25877	T	.	.	0.069	0.04316	B	.;.	.;.	0.566699	0.09351	6.133	0.85240960411871092	0.15771	0.03530	0.08719	N	AEFBI	0.036206	0.04786	N	-1.14442591252093	0.05872	0.2688437	-1.27193761571658	0.04814	0.2279789	0.0380616760858381	0.14329	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.753	-0.529	0.11307	0.060000	0.14220	0.066000	0.14196	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7511:0.0:0.2489	5.376	0.15468	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	193.98	44	chr12	68315054	.	C	T	193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.527e+00;DP=1064;ExcessHet=0.0000;FS=93.271;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=1.06;SOR=6.665	GT:AD:DP:GQ:PL	0/1:207,26:234:99:208,0,8298	20	0	1	0
chr12	68315057	68315057	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G550C:p.D184H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	B	0.027	B	0.325	N	1.000	N	0	N	1.97	T	-1.015	T	0.023	T	0.151	0.855	8.459	-6.78	-1.651	-0.672	9.908	0.012	0.00196230859428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.856e-05	0.0003	1.916e-05	1.795e-05	3e-05	1.271e-05	1.089e-05	1.303e-05	1.112e-05	3e-05	0	3.832e-05	0	0	0	1.99e-05	3.326e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.47745	D	0.101	0.39040	T	0.138	0.27452	B	0.027	0.21085	B	0.325098	0.04097	N	1.517130	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	-1.32	0.33197	N	0.201	0.27910	-1.0150	0.25336	T	0.023	0.09741	T	9	0.071266085	0.10482	T	0.001962	0.03509	T	0.012	0.01476	0.126	0.03173	0.0138822411134	0.00435	0.061463803675946296	0.06086	0.108187199226	0.12199	0.297671884298	0.10055	T	0.036766	0.24227	T	-0.286019	0.10038	T	-0.648623	0.09051	T	0.0697529114174026	0.08617	T	0.270573	0.05606	T	0.052654143	0.09850	0.075408004	0.16598	0.052654143	0.09850	0.075408004	0.16598	-6.062	0.46795	T	.	.	0.091	0.13032	B	.;.	.;.	0.959842	0.13364	9.868	0.29956238085758846	0.01615	0.03517	0.08699	N	AEFBI	0.049707	0.08616	N	-1.74950743609334	0.00681	0.02937809	-1.83612441707929	0.00650	0.02891701	0.978128700104782	0.29889	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.74	-6.78	0.01559	-0.498000	0.06502	-0.543000	0.08571	-1.956000	0.00480	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.2332:0.1057:0.6611	9.908	0.40559	926	0.17793	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	187.98	44	chr12	68315057	.	C	G	187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.378e+00;DP=1061;ExcessHet=0.0000;FS=91.130;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.80;ReadPosRankSum=1.57;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,27:236:99:0|1:68315057_C_G:202,0,8373:68315057	20	0	1	0
chr12	68315058	68315058	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G549C:p.E183D	.	.	.	.	.	.	.	.	.	.	.	3289098	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.787	P	0.298	B	0.362	N	1.000	N	0.695	N	1.85	T	-1.038	T	0.030	T	0.197	1.425	10.70	-4.28	-1.138	-0.982	6.444	0.015	0.0162907195268	.	.	2.471e-05	0	8.637e-05	0.0001	0	1.498e-05	0	0	1.94e-05	3	154602	rs761653386	4.791e-06	4.105e-05	6.81e-06	2.751e-06	2.988e-05	1.99e-06	1.28e-06	3e-07	1.1e-07	2.988e-05	2.236e-05	0	2.519e-05	0	0	1.8e-06	1.656e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.063	0.45110	T	0.787	0.44504	P	0.298	0.40966	B	0.362119	0.13654	N	0.695306	1	0.08975	N	0.695	0.17993	N	1.85	0.24472	T	-1.5	0.36586	N	0.15	0.24260	-1.0381	0.17893	T	0.030	0.12935	T	9	0.07497659	0.11530	T	0.016291	0.37474	T	0.015	0.02232	0.215	0.13498	0.0138822411134	0.00435	0.032169095193184616	0.03164	0.306213775915	0.32924	0.23284393549	0.02185	T	0.044178	0.26736	T	-0.391333	0.02638	T	-0.630771	0.10356	T	0.191752582788467	0.19947	T	0.378562	0.09103	T	0.14788155	0.33787	0.102234356	0.24496	0.14788155	0.33786	0.102234356	0.24495	-3.799	0.21433	T	.	.	0.082	0.10111	B	.;.	.;.	-0.285002	0.02684	0.347	0.962885943470556	0.29305	0.03546	0.08744	N	AEFBI	0.059913	0.11349	N	-0.982395159602214	0.08979	0.4231447	-1.1659861758829	0.06486	0.3123426	0.286705760964225	0.19044	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.74	-4.28	0.03475	-1.253000	0.02987	-1.467000	0.05373	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.0:0.322:0.1587:0.5193	6.444	0.21066	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	228.98	44	chr12	68315058	.	C	G	228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.597e+00;DP=1061;ExcessHet=0.0000;FS=93.801;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.98;ReadPosRankSum=1.38;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,26:235:99:0|1:68315057_C_G:243,0,8340:68315057	20	0	1	0
chr12	68315060	68315060	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G547C:p.E183Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928	P	0.408	B	0.362	N	1.000	N	1.245	L	1.84	T	-1.058	T	0.044	T	0.184	1.905	12.33	0.356	0.303	0.776	4.542	0.022	0.0207637212828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.3e-05	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.161	0.31326	T	0.928	0.51611	P	0.408	0.44733	B	0.362119	0.13654	N	0.695306	1	0.08975	N	1.245	0.31408	L	1.84	0.24656	T	-0.95	0.25332	N	0.112	0.19861	-1.0585	0.12134	T	0.044	0.18783	T	9	0.07721999	0.12161	T	0.020764	0.43417	T	0.022	0.04323	0.227	0.15257	0.0138822411134	0.00435	0.0658389026380427	0.06522	0.318609977021	0.34082	0.230100348592	0.01975	T	0.024413	0.18453	T	-0.230759	0.16550	T	-0.569246	0.15520	T	0.169440805912018	0.18542	T	0.458254	0.13193	T	0.11869084	0.27959	0.050728	0.08021	0.11869084	0.27959	0.050728	0.08020	-5.997	0.46254	T	.	.	0.101	0.20117	B	.;.	.;.	1.564316	0.20031	14.56	0.95058437844600807	0.26083	0.11680	0.16792	N	AEFBI	0.062126	0.11922	N	-0.607554815234127	0.18717	0.9739345	-0.769743800062424	0.15238	0.8004049	0.0391899243322302	0.14382	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.56	0.356	0.15310	0.769000	0.26267	0.374000	0.17708	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.102000	0.18378	0.1533:0.6017:0.1499:0.095	4.542	0.11460	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	222.98	44	chr12	68315060	.	C	G	222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.241e+00;DP=1063;ExcessHet=0.0000;FS=92.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=1.98;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,28:238:99:0|1:68315057_C_G:237,0,8434:68315057	20	0	1	0
chr12	68315061	68315061	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G546C:p.E182D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.011	B	0.204	N	1.000	N	0.6	N	1.92	T	-1.000	T	0.033	T	0.109	0.664	7.556	-0.395	0.019	-0.571	9.274	0.011	0.0031827643436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.21884	T	0.359	0.17014	T	0.005	0.12996	B	0.011	0.15521	B	0.203767	0.16534	N	0.601628	1	0.08975	N	2.095	0.58118	M	1.92	0.23082	T	-1.65	0.39503	N	0.073	0.11054	-1.0002	0.29860	T	0.033	0.14117	T	9	0.052917123	0.05401	T	0.003183	0.06966	T	0.011	0.01250	0.161	0.06507	0.0138822411134	0.00435	0.037265768819089454	0.03673	0.0562031697788	0.06208	0.215513035655	0.01067	T	0.082096	0.36749	T	-0.300284	0.08633	T	-0.669114	0.07665	T	0.0426887050271034	0.04181	T	0.374863	0.09932	T	0.0684382	0.14910	0.07738928	0.17236	0.0684382	0.14910	0.07738928	0.17236	-4.467	0.31188	T	.	.	0.093	0.14201	B	.;.	.;.	0.414059	0.07849	4.546	0.87582068365062615	0.17331	0.04595	0.10248	N	AEFBI	0.041789	0.06400	N	-1.07124952976041	0.07177	0.332625	-1.12447118557157	0.07235	0.3511444	0.037332668385275	0.14292	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.56	-0.395	0.11811	-0.395000	0.07347	-4.699000	0.02027	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.111000	0.18785	0.0:0.668:0.0:0.332	9.274	0.36846	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	216.98	44	chr12	68315061	.	C	G	216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.985e+00;DP=1065;ExcessHet=0.0000;FS=94.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.91;ReadPosRankSum=1.82;SOR=6.665	GT:AD:DP:GQ:PL	0/1:212,26:239:99:231,0,8492	20	0	1	0
chr12	68315063	68315063	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G544C:p.E182Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.963	D	0.626	P	0.204	N	1.000	N	1.845	L	1.85	T	-1.076	T	0.078	T	0.118	1.625	11.39	2.66	0.835	0.016	7.710	0.029	0.00342059953463	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs750682129	6.84e-07	1.368e-06	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.574e-06	6.568e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.18	0.21968	T	0.306	0.19972	T	0.963	0.55692	D	0.626	0.51600	P	0.203767	0.16534	N	0.601628	1	0.08975	N	2.095	0.58118	M	1.85	0.24472	T	-1.84	0.43149	N	0.183	0.25499	-1.0764	0.08063	T	0.078	0.31193	T	9	0.09465468	0.16848	T	0.003421	0.07694	T	0.029	0.06676	0.16	0.06396	0.0297737177859	0.01360	0.08663214562108784	0.08597	0.0609736430081	0.06783	0.215153425932	0.01049	T	0.177327	0.52758	T	-0.388779	0.02739	T	-0.614703	0.11606	T	0.210991099476814	0.21005	T	0.451055	0.13966	T	0.07431545	0.16670	0.054519583	0.09394	0.07431545	0.16669	0.054519583	0.09393	-5.716	0.43836	T	.	.	0.099	0.16756	B	.;.	.;.	1.411540	0.18270	13.64	0.97601516828540724	0.34853	0.08619	0.14523	N	AEFBI	0.062606	0.12045	N	-0.364199966981064	0.26753	1.462543	-0.553687562118745	0.20708	1.116928	0.121320329683277	0.16888	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.56	2.66	0.30672	0.164000	0.16359	1.308000	0.25520	0.599000	0.40250	0.001000	0.13787	0.172000	0.23351	0.112000	0.18829	0.0:0.786:0.0:0.214	7.710	0.27839	926	0.17793	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	229.98	44	chr12	68315063	.	C	G	229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.465e+00;DP=1069;ExcessHet=0.0000;FS=97.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.96;ReadPosRankSum=2.15;SOR=6.735	GT:AD:DP:GQ:PL	0/1:211,28:239:99:244,0,8449	20	0	1	0
chr12	81268054	81268054	C	T	exonic	PPFIA2	.	nonsynonymous SNV	PPFIA2:NM_001220479:exon17:c.G1952A:p.R651H	.	.	441	1045	36	0	0	36	0.0169332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	1.0	D	0.992	D	0.000	D	1.000	D	1.44	L	-1.92	D	0.114	D	0.615	D	0.804	3.271	16.98	5.91	2.807	6.082	20.305	0.536	.	0.0070	0.00399361	0.0115	0.0022	0.0058	0	0.0012	0.0140	0.0080	0.0199	0.0064423	996	154602	rs61756413	0.0086	0.0086	0.0083	0.0088	0.0137	0.0084	0.0084	0.0130	0.0128	0.0014	0.0034	0.0102	0.0001	0.0014	0.0113	0.0092	0.0083	0.0137	0.0053	0.0054	0.0055	0.0052	0.0143	0.0050	0.0049	0.0116	0.0106	0.0014	0	0.0024	0.0118	0.0002	0.0008	0.0105	0.0086	0.0053	0.0143	0.218	0.20988	T	0.291	0.20944	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.835	0.21042	L	-1.92	0.84773	D	-0.11	0.23372	N	0.56	0.66700	0.114	0.84433	D	0.615	0.86389	D	10	0.013827771	0.00292	T	.	.	.	0.536	0.80545	.	.	0.930576009411	0.92986	0.39334430205409027	0.39249	1.42373316533	0.85663	0.761375904083	0.76134	T	0.058123	0.30755	T	-0.111376	0.34542	T	0.0789164	0.75505	D	0.0156376510572331	0.00358	T	0.929607	0.74365	D	0.35029003	0.57090	0.29099292	0.55124	0.35029003	0.57090	0.29099292	0.55123	-7.346	0.61404	T	.	.	0.087	0.28027	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.561971	0.92146	32	0.99394218987553684	0.62474	0.97156	0.73019	D	AEFHI	0.897733	0.84025	D	0.68250432754919	0.78488	6.881378	0.715415096013723	0.83549	8.050912	0.999999999999919	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	6.163000	0.71702	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.305	0.98622	766	0.49742	.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2337.11	34	chr12	81268054	.	C	T	2337.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.40;DP=885;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=0.282;SOR=0.693	GT:AD:DP:GQ:PL	0/1:68,53:121:99:1256,0,1478	19	0	2	0
chr12	85124458	85124458	G	C	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon17:c.G3946C:p.E1316Q,	.	.	433	1088	1	0	0	1	0.000459348	.	.	2690720	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.826	P	0.292	B	0.103	N	1.000	N	0.345	N	0.44	T	-1.029	T	0.069	T	0.114	2.736	15.11	2.5	0.738	0.549	1.499	0.078	0.0190558660063	.	.	8.406e-05	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs760879565	6.705e-05	6.704e-05	6.127e-05	7.29e-05	0.0012	5.63e-05	5.173e-05	0.0006	0.0004	0.0001	4.472e-05	3.826e-05	0	0	0.0012	6.385e-05	0.0002	0	6.568e-05	6.562e-05	5.141e-05	8.059e-05	7.352e-05	3.515e-05	2.615e-05	2.847e-05	1.859e-05	2.407e-05	0	0	0	0	0	0.0102	7.352e-05	0.0005	0	0.337	0.12837	T	0.339	0.18071	T	0.493	0.37004	P	0.155	0.34417	B	0.103391	0.19749	N	0.467452	1	0.08975	N	1.75	0.45442	L	0.44	0.56609	T	-1.06	0.27669	N	0.294	0.33250	-1.0286	0.20908	T	0.069	0.28180	T	10	0.13269368	0.25254	T	0.019056	0.41318	T	0.078	0.22779	.	.	0.536100336011	0.53261	0.26128802743784973	0.26041	0.0515022165253	0.05672	0.307593286037	0.11544	T	0.010779	0.09696	T	-0.370668	0.03560	T	-0.544514	0.17857	T	0.04774559289217	0.05097	T	0.636336	0.25008	T	0.05740735	0.11421	0.037575323	0.03441	0.05740735	0.11420	0.037575323	0.03440	-4.601	0.32184	T	.	.	0.184	0.39865	B	.	.	1.682381	0.21443	15.20	0.99179109821026523	0.54614	0.06953	0.12979	N	AEFI	0.043780	0.06962	N	-0.588210448005903	0.19302	1.009119	-0.644139849907204	0.18365	0.9807297	3.3390441503799E-6	0.01202	0.553676	0.25195	0	0.624306	0.53593	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.33	2.5	0.29355	0.901000	0.28075	1.547000	0.27267	0.618000	0.50648	0.404000	0.26202	0.897000	0.27914	0.004000	0.06068	0.2343:0.2048:0.4266:0.1343	1.499	0.02324	874	0.30607	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1152.98	35	chr12	85124458	.	G	C	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.17;ReadPosRankSum=0.839;SOR=0.801	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1167,0,917	20	0	1	0
chr12	98516081	98516081	G	A	exonic	TMPO	.	nonsynonymous SNV	TMPO:NM_001032283:exon1:c.G214A:p.E72K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.837	P	0.000	D	0.998	D	1.975	M	1.63	T	-0.097	T	0.447	T	0.582	3.165	16.59	4.51	2.217	4.216	17.207	0.147	0.938901082115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.381e-06	2.736e-06	1.373e-06	1.389e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.53172	D	0.168	0.39799	T	0.984	0.77913	D	0.546	0.59984	P	0.000200	0.48115	D	0.182670	0.997646	0.44063	D	2.34	0.67151	M	0.27	0.72994	T	-1.78	0.45222	N	0.375	0.48227	-0.0969	0.80169	T	0.447	0.78252	T	10	0.544495	0.63906	D	0.938901	0.99565	D	0.147	0.38986	0.284	0.24121	0.724144010556	0.72170	0.18358928958345458	0.18277	0.409170170421	0.41733	0.94465482235	0.99612	D	0.037693	0.63310	T	0.0671522	0.60501	T	-0.141317	0.60004	T	0.986519932746887	0.77213	D	0.949105	0.80662	D	0.31393725	0.54124	0.37855816	0.62931	0.31393725	0.54124	0.37855816	0.62930	-5.913	0.51030	T	.	.	0.758	0.83831	P	.;.;.;.;.	.;.;.;.;.	4.857407	0.79449	27.1	0.99761611570148778	0.85091	0.82215	0.41477	D	AEFDBHCIJ	0.645428	0.62133	D	0.353841799328165	0.58943	4.069792	0.32431216480423	0.56972	3.861531	0.999999998410771	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.51	4.51	0.54589	3.410000	0.52417	11.026000	0.85008	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.0:0.0:1.0:0.0	17.207	0.86802	821	0.40814	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	670.98	34	chr12	98516081	.	G	A	670.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.423;DP=711;ExcessHet=0.0000;FS=2.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=2.15;SOR=0.340	GT:AD:DP:GQ:PL	0/1:22,26:48:99:685,0,578	20	0	1	0
chr12	102958405	102958405	-	GCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCA:p.Q62_A63insQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:11,7,0,2,0:20:99:237,0,413,279,437,728,201,354,653,663,279,437,728,653,728	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	0/1:11,7,0,2,0:20:99:237,0,413,279,437,728,201,354,653,663,279,437,728,653,728	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	0/1:11,7,0,2,0:20:99:237,0,413,279,437,728,201,354,653,663,279,437,728,653,728	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	0/1:11,7,0,2,0:20:99:237,0,413,279,437,728,201,354,653,663,279,437,728,653,728	6	1	11	0
chr12	103725080	103725080	G	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon45:c.G4789A:p.G1597S,	.	.	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.999	D	0.000	D	1.000	D	2.505	M	-2.89	D	0.832	D	0.871	D	0.688	3.740	18.99	5.38	2.515	6.322	17.894	0.646	0.148122671898	0.0002	.	0.0001	9.612e-05	8.64e-05	0	0	0.0002	0	0	0.0001423	22	154602	rs144900279	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	0.0001	0.0020	0.0017	8.966e-05	0.0001	0	0	0	0.0031	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	8.166e-05	6.722e-05	7.91e-05	5.995e-05	7.221e-05	0	0.0001	0	0	9.445e-05	0.0068	0.0001	0.0005	0	0.029	0.45756	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999671	0.48205	D	3.44	0.92123	M	-2.89	0.91589	D	-3.81	0.71882	D	0.462	0.49874	0.832	0.94808	D	0.871	0.95704	D	10	0.64899546	0.69493	D	0.148123	0.83007	D	0.646	0.86586	.	.	0.867491070438	0.86620	0.8524035949781223	0.85202	0.442035396071	0.44180	0.530718505383	0.43136	T	0.540968	0.84282	D	0.0425163	0.57374	T	0.115444	0.77932	D	0.672265887260437	0.39439	D	0.881012	0.60027	D	0.42914793	0.62697	0.3759177	0.62725	0.42914793	0.62697	0.3759177	0.62725	-8.875	0.66888	D	.	.	0.198	0.41992	B	.	.	3.426504	0.47601	22.5	0.99878246437637841	0.95491	0.98580	0.84326	D	AEFBI	0.866726	0.78625	D	0.672674359218314	0.77842	6.753289	0.605841799262617	0.75364	6.297357	0.999909344462238	0.45458	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.38	5.38	0.77279	6.645000	0.74198	4.533000	0.43733	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.399000	0.26759	0.0:0.0:1.0:0.0	17.894	0.88797	902	0.24074	FAS1 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	843.98	35	chr12	103725080	.	G	A	843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=788;ExcessHet=0.0000;FS=0.827;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-4.250e-01;SOR=0.833	GT:AD:DP:GQ:PL	0/1:48,36:84:99:858,0,1167	20	0	1	0
chr12	103980072	103980072	-	ATTGGCATAAACCCG	exonic	TDG	.	nonframeshift insertion	TDG:NM_003211:exon3:c.408_409insATTGGCATAAACCCG:p.P141_G142insIGINP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301665755	1.369e-06	0.0001	2.724e-06	0	2.989e-05	2.3e-07	9e-08	.	.	2.989e-05	0	0	0	0	0	8.996e-07	0	0	0	4.597e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	46.94	47	chr12	103980072	.	T	TATTGGCATAAACCCG	46.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=1064;ExcessHet=0.0000;FS=18.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.17;MQRankSum=-1.019e+01;QD=0.33;ReadPosRankSum=-4.938e+00;SOR=3.290	GT:AD:DP:GQ:PL	0/1:131,12:143:61:61,0,5419	20	0	1	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*42	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0029	0.0007	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0009	0.0017	0.0024	0.0014	0.0011	0.0011	0.0007	0.0012	0.0017	3.977e-05	0.0003	3.886e-05	4.074e-05	0.0002	1.728e-05	1.138e-05	8.08e-06	3.02e-06	4.875e-05	0	0	0	0.0002	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:136,0,0,22,0:158:99:.:.:488,902,6559,902,6559,6559,0,5656,5656,5590,902,6559,6559,5656,6559	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCTGTTAA	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCTGTTAA:p.E188Gfs*8	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	9.285e-05	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0.0003	7.88e-05	0.0004	0.0002	0.0002	0.0001	0.0002	0.0001	6.627e-06	7.246e-05	0	1.357e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:136,0,0,22,0:158:99:.:.:488,902,6559,902,6559,6559,0,5656,5656,5590,902,6559,6559,5656,6559	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGAT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGAT:p.M184Ifs*9	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0098	0.0020	0.0024	0.0047	0.0021	0.0021	0.0044	0.0042	0.0028	0.0029	0.0047	0.0013	0.0014	0.0016	0.0020	0.0022	0.0047	1.988e-05	0.0002	0	4.073e-05	4.875e-05	5.29e-06	2.47e-06	8.08e-06	3.02e-06	4.875e-05	0	0	0	0	9.546e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:136,0,0,22,0:158:99:.:.:488,902,6559,902,6559,6559,0,5656,5656,5590,902,6559,6559,5656,6559	10	0	6	0
chr12	105122179	105122179	C	G	exonic	WASHC4	.	nonsynonymous SNV	WASHC4:NM_001293640:exon10:c.C727G:p.P243A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.192	B	0.043	B	0.000	D	1.000	D	1.3	L	1.66	T	-1.091	T	0.069	T	0.729	2.728	15.08	5.72	2.716	7.518	19.940	0.143	0.0157672803897	.	.	4.149e-05	0	8.661e-05	0	0	3.002e-05	0	0.0001	3.23e-05	5	154602	rs776626849	1.782e-05	1.779e-05	1.774e-05	1.791e-05	0.0002	1.24e-05	1.054e-05	9.796e-05	7.842e-05	0	0	0	0	0	0.0002	7.209e-06	4.976e-05	0.0002	6.582e-06	6.57e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.526	0.07116	T	0.817	0.03863	T	0.192	0.29441	B	0.043	0.24256	B	0.000001	0.84330	D	0.098714	1	0.81001	D	.	.	.	1.66	0.27486	T	-2.11	0.48020	N	0.593	0.65501	-1.0915	0.05286	T	0.069	0.28147	T	10	0.2600579	0.43450	T	0.015767	0.36685	T	0.143	0.38195	0.353	0.35246	0.568285537894	0.56494	0.3702114291709014	0.36935	0.215138462999	0.24049	0.706216156483	0.68044	T	0.005723	0.22156	T	-0.12291	0.32649	T	-0.177659	0.56738	T	0.19294111430645	0.20016	T	0.932007	0.74652	D	0.10110468	0.23879	0.19841634	0.43673	0.10110468	0.23879	0.19841634	0.43672	-3.152	0.11903	T	0.17145677444465504	0.21613	0.176	0.41828	B	.;.	.;.	2.989097	0.39896	21.1	0.94030710126409189	0.24144	0.98868	0.87925	D	AEFBI	0.846468	0.76334	D	0.146843581499717	0.48663	3.075797	0.338166129143861	0.57799	3.946986	0.999999999998941	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	7.603000	0.82048	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.940	0.97160	856	0.34373	WASH complex subunit 7, N-terminal;WASH complex subunit 7, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	441.98	33	chr12	105122179	.	C	G	441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.233;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-9.310e-01;SOR=0.889	GT:AD:DP:GQ:PL	0/1:21,21:42:99:456,0,443	20	0	1	0
chr12	108807666	108807666	G	A	exonic	SSH1	.	nonsynonymous SNV	SSH1:NM_001161331:exon7:c.C731T:p.T244M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.998	D	0.949	D	0.000	D	1.000	D	1.61	L	1.27	T	-0.925	T	0.181	T	0.268	1.964	12.52	5.35	2.488	5.242	18.051	0.114	0.00973362549824	.	.	3.305e-05	0	0	0	0	3.006e-05	0	0.0001	3.23e-05	5	154602	rs774153220	1.232e-05	1.231e-05	9.531e-06	1.514e-05	8.962e-05	7.7e-06	6.35e-06	2.995e-05	2.038e-05	8.962e-05	0	0	2.521e-05	0	0	6.298e-06	1.657e-05	6.957e-05	6.594e-06	6.57e-06	0	1.351e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.031	0.45039	D	0.1	0.38742	T	0.986	0.73220	D	0.749	0.68658	P	0.000087	0.51296	D	0.203828	0.61892	0.81001	D	2.08	0.57402	M	1.27	0.36146	T	-2.56	0.55983	D	0.392	0.45615	-0.9251	0.44844	T	0.181	0.52843	T	10	0.30910945	0.48401	T	0.009734	0.25404	T	0.114	0.32008	0.269	0.21735	0.339940258815	0.33601	0.5282154174277344	0.52745	0.284214640594	0.30848	0.587517797947	0.51144	T	0.091626	0.38835	T	-0.273435	0.11377	T	-0.393879	0.34097	T	0.512461245059967	0.33088	D	0.915508	0.69822	D	0.10963873	0.25921	0.11936199	0.28810	0.10963873	0.25920	0.11936199	0.28810	-6.812	0.61336	T	.	.	0.074	0.05579	B	.;.;.	.;.;.	4.688242	0.75090	26.3	0.97555303612245292	0.34593	0.89671	0.50286	D	AEFDGBCI	0.514144	0.54164	D	0.487561409814262	0.66361	4.940388	0.473428577047099	0.66234	4.925694	0.999999992284099	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.65145	0.50148	0	0.711	0.71501	0	.	.	5.35	5.35	0.76297	5.344000	0.65751	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.411000	0.27028	0.0:0.0:1.0:0.0	18.051	0.89272	872	0.31118	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	795.98	34	chr12	108807666	.	G	A	795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.07;DP=788;ExcessHet=0.0000;FS=0.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.47;ReadPosRankSum=-6.300e-02;SOR=0.556	GT:AD:DP:GQ:PL	0/1:61,33:94:99:810,0,1437	20	0	1	0
chr12	109139509	109139509	G	A	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon2:c.G104A:p.S35N,	.	.	.	.	.	.	.	.	.	.	.	2375484	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.456	N	1.000	N	1.5	L	0.76	T	-0.999	T	0.107	T	0.097	1.407	10.64	2.84	0.335	0.042	7.702	0.028	0.00689612359186	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs750878973	1.437e-05	1.437e-05	1.633e-05	1.238e-05	0.0002	9.23e-06	7.84e-06	1.174e-05	9.55e-06	0	0	0	0	0	0.0002	1.799e-05	0	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.125	0.27310	T	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.455966	0.12449	N	0.739768	1	0.08975	N	1.955	0.52871	M	0.76	0.49919	T	-0.62	0.61284	N	0.077	0.05162	-0.9986	0.30311	T	0.107	0.38906	T	10	0.09435046	0.16769	T	0.006896	0.18233	T	0.028	0.06331	.	.	0.271763555656	0.26798	0.04155179673027719	0.04100	0.221885408441	0.24726	0.328330993652	0.14681	T	0.341097	0.71004	T	-0.296348	0.09008	T	-0.66346	0.08035	T	0.0634503471908699	0.07700	T	0.39666	0.09990	T	0.040642202	0.05840	0.06564378	0.13335	0.040642202	0.05840	0.06564378	0.13335	-5.483	0.41709	T	.	.	0.060	0.13783	B	.;.;.	.;.;.	0.176598	0.05646	2.098	0.93662804358390217	0.23554	0.04264	0.09797	N	AEFBI	0.061167	0.11675	N	-0.779256794451868	0.13852	0.6854274	-0.80250566741432	0.14436	0.7542069	3.01942643106712E-4	0.06454	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	2.84	0.32241	0.052000	0.14046	1.037000	0.23526	0.676000	0.76740	0.000000	0.06391	0.252000	0.23925	0.011000	0.09372	0.2604:0.0:0.7396:0.0	7.702	0.27795	638	0.64280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1405.98	35	chr12	109139509	.	G	A	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.404;DP=821;ExcessHet=0.0000;FS=3.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.680;SOR=0.652	GT:AD:DP:GQ:PL	0/1:64,57:121:99:1420,0,1587	20	0	1	0
chr12	110346405	110346405	A	G	exonic	ATP2A2	.	nonsynonymous SNV	ATP2A2:NM_170665:exon20:c.A3064G:p.I1022V,	Acrokeratosis verruciformis, Autosomal dominant;Darier disease, Autosomal dominant	.	0	1503	19	0	0	19	0.00628099	.	.	1196093	ATP2A2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.004	N	1.000	N	0	N	-3.38	D	-0.486	T	0.560	D	0.1	-0.119	3.415	3.75	0.544	2.591	9.163	0.057	0.0522981064482	0.0006	0.00119808	0.0010	0	0.0009	0	0	0.0007	0.0033	0.0034	0.0008085	125	154602	rs140234740	0.0005	0.0005	0.0005	0.0006	0.0029	0.0005	0.0005	0.0024	0.0023	0	0.0007	0	0	1.872e-05	0.0029	0.0004	0.0008	0.0027	0.0005	0.0005	0.0004	0.0005	0.0037	0.0004	0.0003	0.0024	0.0020	4.81e-05	0	0.0003	0	0	9.413e-05	0	0.0006	0.0009	0.0037	0.619	0.05325	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.003923	0.34318	N	0.351393	1	0.81001	D	0.695	0.17993	N	-3.38	0.94161	D	-0.08	0.08187	N	0.073	0.04668	-0.4858	0.69158	T	0.560	0.83956	D	9	0.0050418377	0.00109	T	0.052298	0.65013	D	0.257	0.56827	.	.	0.666493358032	0.66368	0.4309511518547669	0.43012	0.389368794045	0.40179	0.318109154701	0.13134	T	0.256222	0.62711	T	-0.35386	0.04490	T	-0.283493	0.46446	T	0.0298743736483675	0.01970	T	0.792121	0.43364	T	0.07554232	0.17026	0.041280497	0.04657	0.09638595	0.22701	0.035535995	0.02823	-3.132	0.11668	T	.	.	0.060	0.00964	B	.	.	1.718582	0.21882	15.39	0.89262801978036976	0.18648	0.86448	0.45730	D	AEFBCI	0.390889	0.46954	N	-0.371737250377401	0.26480	1.445551	-0.154932614662954	0.33219	1.897941	0.999910516201505	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	3.75	0.42236	2.599000	0.45895	3.210000	0.36796	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8458:0.0:0.1542:0.0	9.163	0.36198	235	0.90838	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1226.98	35	chr12	110346405	.	A	G	1226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.260e-01;DP=806;ExcessHet=0.0000;FS=2.103;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.53;ReadPosRankSum=-1.970e-01;SOR=1.047	GT:AD:DP:GQ:PL	0/1:35,44:79:99:1241,0,928	20	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	29227.06	33	chr12	111598993	.	C	*,T	29227.06	.	AC=3,29;AF=0.071,0.690;AN=42;BaseQRankSum=-2.220e-01;DP=1084;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=3,29;MLEAF=0.071,0.690;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=-7.290e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,33:33:99:.:.:1384,1384,1384,99,99,0	2	0	0	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	0/1:50,50,0:100:99:1934,0,1860,2083,2012,4096	13	1	4	0
chr12	118073777	118073777	G	C	exonic	VSIG10	.	nonsynonymous SNV	VSIG10:NM_019086:exon5:c.C1141G:p.L381V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.002	B	0.007	B	0.214	N	0.999	N	0.71	N	0.62	T	-1.047	T	0.081	T	0.128	-0.508	1.674	3.77	1.400	0.379	9.506	0.046	0.00361070208814	.	.	8.283e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs756872016	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.13306	T	0.498	0.11263	T	0.002	0.09854	B	0.007	0.12992	B	0.213635	0.16305	N	0.454568	0.998641	0.22015	N	1.055	0.26876	L	0.62	0.53302	T	-0.31	0.12099	N	0.072	0.04547	-1.0467	0.15332	T	0.081	0.31884	T	10	0.07446632	0.11387	T	0.003611	0.08278	T	0.046	0.12618	0.315	0.29096	0.0666544352282	0.05500	0.32334680865778326	0.32247	0.204509772023	0.22873	0.274507880211	0.06738	T	6.21E-4	0.00264	T	-0.296428	0.09001	T	-0.56672	0.15750	T	0.0259780104226031	0.01403	T	0.553945	0.19167	T	0.032027975	0.03150	0.03419619	0.02445	0.032027975	0.03150	0.03419619	0.02445	-6.94	0.53595	T	.	.	0.073	0.04640	B	.	.	1.859259	0.23619	16.09	0.26505483902103422	0.01273	0.11221	0.16489	N	AEFDBI	0.047870	0.08110	N	-0.477263950414019	0.22828	1.221632	-0.337112784109734	0.26910	1.489671	0.00455251154871086	0.10614	0.706548	0.73137	0	0.593476	0.48661	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.65	3.77	0.42499	0.400000	0.20657	5.124000	0.47608	0.675000	0.71128	0.007000	0.17678	1.000000	0.68203	0.987000	0.62547	0.0:0.4896:0.3182:0.1922	9.506	0.38213	962	0.08456	Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	780.98	34	chr12	118073777	.	G	C	780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.521e+00;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.905;SOR=0.606	GT:AD:DP:GQ:PL	0/1:36,34:70:99:795,0,932	20	0	1	0
chr12	121240525	121240525	-	TT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAA:p.G539Kfs*6,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/4:45,0,0,0,11,0:59:98:98,264,1391,264,1391,1391,264,1391,1391,1391,0,1095,1095,1095,1089,264,1391,1391,1391,1095,1391	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	0/4:45,0,0,0,11,0:59:98:98,264,1391,264,1391,1391,264,1391,1391,1391,0,1095,1095,1095,1089,264,1391,1391,1391,1095,1391	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	0/4:45,0,0,0,11,0:59:98:98,264,1391,264,1391,1391,264,1391,1391,1391,0,1095,1095,1095,1089,264,1391,1391,1391,1095,1391	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	0/4:45,0,0,0,11,0:59:98:98,264,1391,264,1391,1391,264,1391,1391,1391,0,1095,1095,1095,1089,264,1391,1391,1391,1095,1391	4	0	0	0
chr12	123916480	123916480	C	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon62:c.C10392A:p.D3464E	.	.	428	1031	62	1	0	64	0.0301035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.998	D	0.951	D	0.000	D	0.999	D	2.94	M	2.01	T	-0.959	T	0.090	T	0.604	3.549	18.10	3.72	2.177	2.961	3.143	0.237	.	0.0067	0.0109824	0.0116	0.0015	0.0033	0.0002	0.0015	0.0083	0.0157	0.0471	0.0105367	1629	154602	rs61745785	0.0097	0.0097	0.0083	0.0112	0.0478	0.0096	0.0095	0.0465	0.0460	0.0015	0.0038	0.0057	0.0001	0.0011	0.0297	0.0080	0.0098	0.0478	0.0062	0.0062	0.0057	0.0067	0.0459	0.0059	0.0058	0.0410	0.0390	0.0013	0.0066	0.0037	0.0058	0.0004	0.0016	0.0205	0.0081	0.0080	0.0459	.	.	.	.	.	.	0.998	0.73220	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.999047	0.45943	D	2.575	0.75298	M	.	.	.	.	.	.	.	.	-0.9593	0.39311	T	0.090	0.34518	T	10	0.008819342	0.00200	T	.	.	.	0.237	0.54074	0.399	0.42753	.	.	0.5668023242090957	0.56608	0.491414588271	0.47834	0.651649415493	0.60219	T	0.027816	0.20287	T	-0.415797	0.01820	T	-0.335732	0.40826	T	0.0198974521952076	0.00690	T	0.944506	0.78979	D	0.43194187	0.62879	0.34993237	0.60610	0.43194187	0.62880	0.34993237	0.60610	-9.784	0.72607	D	.	.	0.283	0.51592	B	.;.	.;.	4.087550	0.60855	24.3	0.99672905042637427	0.78717	0.91670	0.54014	D	AEFBI	0.654762	0.62733	D	0.611963586448856	0.73930	6.047201	0.514895579047583	0.68990	5.297094	0.0179896438730856	0.13010	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.74	3.72	0.41857	2.989000	0.49082	4.760000	0.44710	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:0.5625:0.0:0.4375	3.143	0.06073	730	0.54327	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1558.98	35	chr12	123916480	.	C	A	1558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.592;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=0.680;SOR=0.758	GT:AD:DP:GQ:PL	0/1:44,65:109:99:1573,0,928	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	0/2:19,0,14,0,0:33:99:236,294,1042,0,748,707,294,1042,748,1042,294,1042,748,1042,1042	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	0/2:19,0,14,0,0:33:99:236,294,1042,0,748,707,294,1042,748,1042,294,1042,748,1042,1042	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	0/2:19,0,14,0,0:33:99:236,294,1042,0,748,707,294,1042,748,1042,294,1042,748,1042,1042	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	0/2:19,0,14,0,0:33:99:236,294,1042,0,748,707,294,1042,748,1042,294,1042,748,1042,1042	0	1	2	0
chr12	128914983	128914983	C	T	exonic	GLT1D1	.	nonsynonymous SNV	GLT1D1:NM_001366887:exon5:c.C337T:p.R113C	.	.	434	1081	6	1	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.042	B	0.004	B	.	.	1.000	N	.	.	-1.29	T	-0.797	T	0.280	T	0.198	1.194	9.852	0.621	0.170	0.004	3.357	0.123	0.0588680807464	.	0.00159744	0.0038	0.0018	0	0	0	0.0036	0	0.0043	0.0008861	137	154602	rs79317403	0.0036	0.0034	0.0035	0.0036	0.0040	0.0035	0.0035	0.0039	0.0039	0.0004	0.0011	0.0010	5.599e-05	0.0018	0.0019	0.0040	0.0032	0.0037	0.0024	0.0024	0.0023	0.0025	0.0037	0.0022	0.0021	0.0034	0.0032	0.0005	0	0.0020	0.0017	0.0002	0.0031	0	0.0037	0.0028	0.0029	0.055	0.40832	T	0.131	0.36630	T	0.042	0.21471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.95	0.52479	M	-1.29	0.79475	T	-1.88	0.45949	N	0.151	0.18239	-0.7969	0.55327	T	0.280	0.65159	T	8	0.0048719943	0.00104	T	0.058868	0.67466	D	0.123	0.34020	.	.	0.132336055621	0.12781	.	.	.	.	.	.	.	0.023808	0.18107	T	-0.452971	0.01085	T	-0.419712	0.31107	T	0.00372698561778221	0.00039	T	0.743426	0.36288	T	0.068533234	0.14937	0.048810787	0.07329	0.068533234	0.14937	0.048810787	0.07328	-5.176	0.38697	T	.	.	0.071	0.09094	B	.;.	.;.	1.168331	0.15580	11.95	0.91454915598856867	0.20725	0.14231	0.18293	N	AEFDGBHCI	0.072715	0.14521	N	-1.00069423350754	0.08589	0.4033189	-1.05438465293318	0.08616	0.4244913	0.999688917972607	0.41756	0.487112	0.14033	0	0.68618	0.66647	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.05	0.621	0.16817	0.016000	0.13272	-1.896000	0.04535	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2226:0.4663:0.0:0.311	3.357	0.06754	994	0.00715	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1345.98	34	chr12	128914983	.	C	T	1345.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.080e-01;DP=830;ExcessHet=0.0000;FS=0.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=0.781;SOR=0.758	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1360,0,1446	20	0	1	0
chr12	132062526	132062526	-	GCA	exonic	EP400	.	nonframeshift insertion	EP400:NM_015409:exon47:c.8159_8160insGCA:p.Q2748_T2749insQ,	.	.	350	929	220	16	7	259	0.119431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4888.26	92	chr12	132062523	.	GGCA	GGCAGCA,G	4888.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.640e-01;DP=1498;ExcessHet=1.7912;FS=2.679;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=59.98;MQRankSum=0.00;QD=7.44;ReadPosRankSum=-6.150e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:60,23,0:83:99:686,0,2353,870,2422,3292	15	0	5	0
chr12	132062524	132062526	GCA	-	exonic	EP400	.	nonframeshift deletion	EP400:NM_015409:exon47:c.8157_8159del:p.Q2748del,	.	.	350	929	220	16	7	259	0.119431	.	.	3198656	EP400-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0695	.	0.0079	0.0062	0.0086	0.0139	0.0069	0.0074	0.0037	0.0077	0.0045336	118	26028	rs751944198	8.771e-05	0.0006	9.222e-05	8.317e-05	0.0004	7.501e-05	6.991e-05	0.0002	0.0002	0.0004	6.891e-05	0	7.673e-05	0.0001	0	7.45e-05	5.091e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0	0	0.0002	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4888.26	92	chr12	132062523	.	GGCA	GGCAGCA,G	4888.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.640e-01;DP=1498;ExcessHet=1.7912;FS=2.679;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=59.98;MQRankSum=0.00;QD=7.44;ReadPosRankSum=-6.150e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:60,23,0:83:99:686,0,2353,870,2422,3292	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	0/2:38,0,34,0,0:72:99:.:.:1259,1391,3008,0,1617,1515,1391,3008,1617,3008,1391,3008,1617,3008,3008	4	2	6	0
chr13	19751378	19751378	T	C	exonic	PSPC1	.	nonsynonymous SNV	PSPC1:NM_001354908:exon4:c.A860G:p.K287R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.106	B	0.049	B	0.000	D	1.000	D	1.65	L	2.08	T	-1.111	T	0.054	T	0.21	3.154	16.55	4.83	1.943	4.187	14.705	0.105	0.00944355419823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.857e-06	6.841e-06	4.143e-06	5.578e-06	1.216e-05	2.02e-06	1.3e-06	1.95e-06	1.28e-06	0	0	0	0	0	0	5.431e-06	0	1.216e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.218	0.26066	T	0.106	0.26037	B	0.049	0.25116	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.035	0.55589	M	2.08	0.20255	T	-2.03	0.46673	N	0.175	0.31478	-1.1105	0.03027	T	0.054	0.22808	T	10	0.13762301	0.26179	T	0.009444	0.24739	T	0.105	0.29889	0.33	0.31519	0.223474106383	0.21959	0.44563922704505576	0.44481	0.855388780065	0.68728	0.786740779877	0.79946	T	0.091746	0.38860	T	-0.185379	0.22939	T	-0.50406	0.21926	T	0.640917122364044	0.38076	D	0.927007	0.73102	D	0.48643845	0.66290	0.39524958	0.64197	0.48643845	0.66290	0.39524958	0.64197	-7.799	0.59692	D	.	.	0.109	0.20819	B	.;.	.;.	4.145155	0.62139	24.4	0.99827420761190333	0.90939	0.92748	0.56449	D	AEFGBI	0.462400	0.51176	N	0.00668313770960222	0.42159	2.534945	0.146047658156862	0.46932	2.931338	0.915974049894729	0.26499	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	4.209000	0.58291	7.808000	0.69345	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.705	0.68796	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	1197.98	34	chr13	19751378	.	T	C	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.350e-01;DP=823;ExcessHet=0.0000;FS=1.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.75;MQRankSum=0.555;QD=12.10;ReadPosRankSum=1.51;SOR=0.912	GT:AD:DP:GQ:PL	0/1:50,49:99:99:1212,0,1268	20	0	1	0
chr13	21155813	21155813	-	GGAG	splicing	SKA3	NM_145061:exon8:c.1120-2->CTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.943e-05	4.936e-05	2.111e-05	1.784e-05	.	1.242e-05	1.001e-05	.	.	0	0	0	0	0.0004	0	0	0	0	0.0005	0.0005	0.0003	0.0006	0.0022	0.0004	0.0003	0.0012	0.0009	0.0002	0	0.0007	0.0003	0.0006	0.0010	0	0.0004	0.0015	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	23464.59	54	chr13	21155813	.	T	TA,TAA,TGGAG	23464.59	.	AC=16,16,1;AF=0.381,0.381,0.024;AN=42;BaseQRankSum=-6.120e-01;DP=1495;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0104;MLEAC=16,16,1;MLEAF=0.381,0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=23.19;ReadPosRankSum=0.381;SOR=0.664	GT:AD:DP:GQ:PL	1/2:1,18,19,0:38:99:1071,468,382,399,0,368,993,478,428,981	1	1	4	0
chr13	24793169	24793169	A	G	exonic	RNF17	.	nonsynonymous SNV	RNF17:NM_001184993:exon10:c.A1063G:p.S355G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.0	B	0.588	N	1.000	N	0	N	3.49	T	-1.007	T	0.021	T	0.109	0.117	4.627	2.91	1.050	0.747	5.206	0.028	0.00475573486087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.096	0.42614	T	0.0	0.02946	B	0.0	0.01387	B	0.587738	0.11080	N	0.820704	1	0.08975	N	0.55	0.14455	N	3.49	0.05071	T	-1.04	0.27259	N	0.06	0.03175	-1.0067	0.27943	T	0.021	0.08639	T	10	0.058121502	0.06784	T	0.004756	0.11847	T	0.028	0.06331	0.305	0.27485	0.043077524339	0.03247	0.109214135812641	0.10850	0.198902131425	0.22280	0.261753022671	0.05101	T	0.060749	0.31471	T	-0.348751	0.04806	T	-0.738733	0.03944	T	0.0759305506944656	0.09459	T	0.386661	0.09517	T	0.05385375	0.10251	0.03612034	0.02995	0.05385375	0.10250	0.03612034	0.02994	-5.013	0.36981	T	.	.	0.063	0.02257	B	.;.	.;.	0.378708	0.07505	4.152	0.96536557451111993	0.30172	0.05796	0.11732	N	AEFBI	0.057450	0.10701	N	-0.89981070051671	0.10846	0.5203884	-0.858590047835262	0.13081	0.6766429	4.1915574008284E-5	0.03989	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.27	2.91	0.32903	0.759000	0.26127	0.756000	0.21276	0.756000	0.94297	0.003000	0.16062	0.000000	0.08366	0.030000	0.13115	0.7612:0.0:0.2388:0.0	5.206	0.14614	927	0.17636	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1880.98	39	chr13	24793169	.	A	G	1880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.443e+00;DP=925;ExcessHet=0.0000;FS=1.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=0.064;SOR=0.890	GT:AD:DP:GQ:PL	0/1:80,84:164:99:1895,0,1992	20	0	1	0
chr13	25097003	25097003	A	T	exonic	PABPC3	.	stopgain	PABPC3:NM_030979:exon1:c.A805T:p.K269X,	.	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	U	1.000	D	.	.	.	.	.	.	.	.	.	6.871	38	0.875	0.632	6.258	5.899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277822604	0.0002	0.0050	0.0002	0.0002	0.0041	0.0002	0.0001	0.0035	0.0033	0	0.0016	7.768e-05	0.0041	0	0	4.503e-06	3.344e-05	0.0004	0.0041	0.0091	0.0035	0.0048	0.0657	0.0039	0.0038	0.0596	0.0572	0.0004	0	0.0089	0.0070	0.0657	0.0011	0.0034	0.0010	0.0058	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	0.000139	0.49741	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.140945	0.94653	34	0.9935812595185205	0.60904	0.74223	0.36307	D	AEFDGBCI	0.049555	0.08574	N	0.46821757552781	0.65244	4.798183	0.20675132937927	0.50222	3.216508	0.268396305870421	0.18866	0.706298	0.61202	0	0.693144	0.66847	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	0.875	0.875	0.18266	6.513000	0.73652	9.425000	0.80773	0.393000	0.20503	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	1.0:0.0:0.0:0.0	5.899	0.18200	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	912.68	205	chr13	25097003	.	A	T	912.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.010;DP=3665;ExcessHet=0.3300;FS=0.927;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.08;MQRankSum=-1.511e+00;QD=1.34;ReadPosRankSum=-9.730e-01;SOR=0.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,28:210:99:0|1:25097003_A_T:611,0,7558:25097003	18	0	3	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|2:200,0,28:228:99:0|1:25097003_A_T:574,1176,9574,0,8398,8314:25097003	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|1:202,29,0:231:99:0|1:25097003_A_T:610,0,8395,1218,8482,9700:25097003	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|1:209,30,0:239:99:0|1:25097003_A_T:629,0,8655,1258,8745,10003:25097003	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|2:209,0,30:239:99:0|1:25097003_A_T:629,1258,10003,0,8745,8655:25097003	4	0	16	0
chr13	28322931	28322931	T	C	exonic	FLT1	.	nonsynonymous SNV	FLT1:NM_002019:exon21:c.A2812G:p.M938V,	.	.	430	1077	14	1	0	16	0.00737327	.	.	702653	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.002	B	0.949	N	1.000	N	0.625	N	-0.8	T	-0.978	T	0.140	T	0.048	-0.722	0.903	-9.27	-1.556	-3.196	8.255	0.071	.	0.0028	0.00359425	0.0032	0.0009	0.0010	0	0.0002	0.0032	0.0033	0.0093	0.0030465	471	154602	rs35549791	0.0026	0.0026	0.0023	0.0029	0.0087	0.0026	0.0025	0.0082	0.0080	0.0005	0.0016	0.0005	0	0.0002	0.0069	0.0025	0.0027	0.0087	0.0024	0.0024	0.0024	0.0024	0.0094	0.0022	0.0021	0.0072	0.0064	0.0007	0.0011	0.0043	0.0009	0.0002	0	0.0034	0.0030	0.0038	0.0094	0.554	0.06502	T	0.508	0.10893	T	0.0	0.02946	B	0.002	0.06944	B	0.948503	0.07640	N	1.021770	1	0.08975	N	0.615	0.15706	N	-0.8	0.73845	T	0.07	0.06138	N	0.111	0.09772	-0.9777	0.35526	T	0.140	0.45866	T	10	0.0031074882	0.00052	T	.	.	.	0.071	0.20720	.	.	0.228066490088	0.22430	0.3764998894323643	0.37563	0.286092782875	0.31015	0.251135587692	0.03888	T	0.331921	0.70194	T	-0.581191	0.00189	T	-0.601644	0.12674	T	0.00402470849751331	0.00043	T	0.278972	0.07508	T	0.01784996	0.00309	0.035179887	0.02721	0.01784996	0.00309	0.035179887	0.02721	-3.524	0.16769	T	.	.	0.053	0.00248	B	.;.	.;.	-1.978851	0.00106	0.002	0.32694068452336811	0.01908	0.01224	0.04337	N	AEFGBCI	0.063911	0.12380	N	-1.76704238412251	0.00631	0.02720725	-1.82360273110645	0.00686	0.03055535	0.99999999998648	0.74766	0.730579	0.87903	0	0.315538	0.05683	2	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.75	-9.27	0.00560	-2.987000	0.00723	-6.572000	0.01362	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.089:0.5638:0.2136:0.1337	8.255	0.30908	922	0.19044	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	517.11	30	chr13	28322931	.	T	C	517.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.780e-01;DP=681;ExcessHet=0.1072;FS=2.090;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.28;ReadPosRankSum=-4.870e-01;SOR=0.419	GT:AD:DP:GQ:PL	0/1:22,12:34:99:256,0,607	19	0	2	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L,	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.951	P	0.409	B	0.000	N	1.000	D	2.865	M	1.88	T	-0.981	T	0.091	T	0.248	3.297	17.08	4.14	0.938	4.903	8.428	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	1573.08	134	chr13	38859428	.	G	C	1573.08	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-4.318e+00;DP=3120;ExcessHet=17.4423;FS=268.600;InbreedingCoeff=-0.5351;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.855;SOR=13.744	GT:AD:DP:GQ:PL	0/1:110,57:171:99:195,0,2185	6	0	15	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	0/1:90,56:146:99:.:.:396,0,2056	0	0	20	1
chr13	42917545	42917545	T	G	exonic	EPSTI1	.	nonsynonymous SNV	EPSTI1:NM_001331228:exon7:c.A356C:p.Q119P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.965	D	0.663	P	0.643	N	1.000	N	1.95	M	1.95	T	-1.044	T	0.072	T	0.596	1.000	9.083	0.463	0.006	0.094	7.115	0.116	0.00893263065901	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1184115838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.031	0.54934	D	0.965	0.56013	D	0.663	0.52893	P	0.642864	0.10583	N	0.831722	0.999943	0.19238	N	2.14	0.59869	M	1.95	0.22474	T	-2.87	0.61129	D	0.614	0.63459	-1.0445	0.15971	T	0.072	0.29291	T	10	0.3082819	0.48325	T	0.008933	0.23535	T	0.116	0.32463	0.22	0.14224	0.290962096972	0.28708	0.295559408752203	0.29468	0.520747388176	0.49866	0.260202109814	0.04914	T	0.046555	0.27458	T	-0.0881745	0.38378	T	-0.364433	0.37539	T	0.612977738312738	0.36920	D	0.720728	0.34152	T	0.31904098	0.54559	0.3672125	0.62035	0.31904098	0.54559	0.3672125	0.62035	-8.616	0.66531	D	.	.	0.426	0.60988	A	.;.;.	.;.;.	1.876585	0.23837	16.17	0.98231536146831466	0.39396	0.18400	0.20245	N	AEFI	0.384958	0.46588	N	-0.469811308401626	0.23074	1.236536	-0.666949864066207	0.17789	0.9474701	0.0979708819114805	0.16293	0.732398	0.92422	0	0.743671	0.97443	0	0.618467	0.43123	0	0.836244	0.99985	0	.	.	4.23	0.463	0.15912	0.155000	0.16180	-0.977000	0.06726	-0.123000	0.13640	0.009000	0.18154	0.001000	0.17328	0.264000	0.23619	0.0:0.4004:0.0:0.5996	7.115	0.24588	497	0.76227	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1271.98	34	chr13	42917545	.	T	G	1271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.900e-02;DP=802;ExcessHet=0.0000;FS=1.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=-7.430e-01;SOR=0.500	GT:AD:DP:GQ:PL	0/1:38,51:89:99:1286,0,880	20	0	1	0
chr13	44965897	44965897	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G774C:p.K258N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.971	D	0.825	P	0.910	N	0.739	N	2.18	M	0.83	T	-0.884	T	0.220	T	0.154	2.402	13.99	3.16	0.775	0.044	7.319	0.157	0.00928738655635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0043	0.0006	0.0006	0.0007	0.0006	0.0006	0.0006	0.0006	0.0006	7.169e-05	0.0003	0.0003	0.0002	0.0004	0.0007	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.359	0.17014	T	0.971	0.57185	D	0.825	0.59331	P	0.910049	0.07409	N	1.036210	0.738816	0.29756	N	2.25	0.63811	M	0.83	0.47815	T	-2.17	0.49018	N	0.299	0.33796	-0.8840	0.49440	T	0.220	0.58306	T	10	0.24265513	0.41465	T	0.009287	0.24389	T	0.157	0.40909	0.474	0.55020	0.818736002665	0.81702	0.4195385722957138	0.41869	0.292299643335	0.31640	0.676025271416	0.63699	T	0.177767	0.52817	T	-0.182115	0.23422	T	-0.499372	0.22412	T	0.931297183036804	0.59657	D	0.823718	0.48487	T	0.077003986	0.17449	0.085702814	0.19806	0.077003986	0.17449	0.085702814	0.19805	-6.791	0.52492	T	.	.	0.387	0.58814	A	.	.	2.668832	0.34787	19.72	0.99757066602325661	0.84772	0.28433	0.23553	N	AEFGBI	0.095724	0.19336	N	0.133333906900528	0.48022	3.020043	0.0518211482771647	0.42159	2.545258	0.975820955919572	0.29668	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	3.16	0.35406	0.142000	0.15917	0.534000	0.19274	0.599000	0.40250	0.161000	0.23811	0.997000	0.33255	0.999000	0.91618	0.0:0.8028:0.0:0.1972	7.319	0.25689	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved 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	0.09375	275.26	20	chr13	44965897	.	C	G	275.26	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-8.290e-01;DP=490;ExcessHet=0.3300;FS=224.614;InbreedingCoeff=-0.1660;MLEAC=4;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.76;ReadPosRankSum=0.00;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,7:36:17:0|1:44965897_C_G:17,0,833:44965897	13	0	3	5
chr13	46082502	46082502	T	C	exonic	CPB2	.	nonsynonymous SNV	CPB2:NM_001278541:exon4:c.A323G:p.N108S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.977	D	0.58	P	0.000	D	0.987	D	1.67	L	1.6	T	-1.058	T	0.089	T	0.105	1.029	9.202	5.65	2.150	6.043	13.825	0.160	0.0127547941444	.	0.000199681	8.238e-06	0	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs201278346	1.368e-06	1.368e-06	1.362e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.832	0.07473	T	0.589	0.08870	T	0.966	0.56202	D	0.14	0.33554	B	0.000000	0.84330	D	0.087436	0.987354	0.40577	D	2.16	0.60381	M	1.6	0.28604	T	-1.68	0.45222	N	0.476	0.51940	-1.0578	0.12311	T	0.089	0.34188	T	10	0.20324573	0.36473	T	0.012755	0.31594	T	0.160	0.41473	.	.	0.402899589544	0.39908	0.5435022571964878	0.54276	0.551534003631	0.51990	0.390689313412	0.23767	T	0.23524	0.60245	T	-0.244088	0.14831	T	-0.588392	0.13805	T	0.336030331429386	0.26466	T	0.770023	0.39993	T	0.48015812	0.65910	0.29679233	0.55713	0.48015812	0.65910	0.29679233	0.55712	-4.005	0.23878	T	.	.	0.082	0.08657	B	.;.;.	.;.;.	2.276663	0.29103	18.02	0.91363603991018638	0.20628	0.90407	0.51558	D	AEFDGBI	0.788159	0.71773	D	0.0442522169413464	0.43878	2.67228	0.0173002234650802	0.40519	2.419419	0.995086604411265	0.33945	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	6.395000	0.73157	6.069000	0.53240	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:0.0:1.0	13.825	0.62836	599	0.68140	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1059.98	41	chr13	46082502	.	T	C	1059.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.708;DP=789;ExcessHet=0.0000;FS=0.801;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-8.910e-01;SOR=0.871	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1074,0,1170	20	0	1	0
chr13	51942395	51942395	C	T	exonic	ATP7B	.	nonsynonymous SNV	ATP7B:NM_001005918:exon11:c.G2782A:p.A928T	Wilson disease, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	.	.	527795	not_provided|Wilson_disease	MedGen:C3661900|MONDO:MONDO:0010200,MedGen:C0019202,OMIM:277900,Orphanet:905	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.57	T	0.031	B	0.05	B	0.082	N	1.000	N	0	N	-3.83	D	0.156	D	0.605	D	0.081	0.297	5.611	-6.84	-1.514	-3.155	6.930	0.167	.	0.0003	0.00199681	0.0052	0	0	0	0.0534	0.0038	0.0178	6.056e-05	0.0040491	626	154602	rs187200982	0.0025	0.0025	0.0025	0.0025	0.0005	0.0024	0.0024	0.0005	0.0004	2.987e-05	0	3.826e-05	0.0002	0.0548	0.0002	0.0005	0.0029	0.0003	0.0047	0.0047	0.0027	0.0067	0.0014	0.0044	0.0043	0.0012	0.0011	2.407e-05	0	6.54e-05	0	0.0002	0.0573	0	0.0014	0.0024	0.0002	0.603	0.05790	T	0.602	0.07894	T	0.0	0.20130	B	0.001	0.25278	B	0.082095	0.02365	N	1.843910	1	0.08975	N	0.135	0.08676	N	-3.89	0.97242	D	0.19	0.10833	N	0.115	0.10911	0.156	0.85159	D	0.605	0.85979	D	10	0.0021025836	0.00030	T	.	.	.	0.167	0.42761	.	.	0.654553869521	0.65167	0.47490297824234395	0.47409	0.0575941359263	0.06381	0.227259367704	0.01772	T	0.518598	0.83122	D	-0.413832	0.01875	T	-0.365851	0.37374	T	0.0128227865966227	0.00218	T	0.446455	0.16784	T	0.025658986	0.01529	0.04060221	0.04426	0.021958072	0.00827	0.031772524	0.01813	-3.753	0.20104	T	0.07758475157762715	0.03649	0.066	0.02257	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.458612	0.00321	0.005	0.52879314227800156	0.04832	0.00604	0.02691	N	AEFDBI	0.040556	0.06048	N	-1.65924043187841	0.00997	0.04320475	-1.72038946912443	0.01050	0.04712847	0.998683987135627	0.37455	0.615465	0.37627	0	0.563428	0.19063	0	0.49644	0.08281	0	0.655142	0.61905	0	.	.	5.15	-6.84	0.01527	-2.972000	0.00732	-20.000000	0.00162	-0.855000	0.02678	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.097:0.1281:0.1048:0.6702	6.930	0.23617	459	0.78817	.;.;.;.;.;.;.	.	.	.	.	rs187200982	Uncertain significance	0	0	0	0	0	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	1229.98	35	chr13	51942395	.	C	T	1229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.976e+00;DP=826;ExcessHet=0.0000;FS=8.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=2.15;SOR=0.263	GT:AD:DP:GQ:PL	0/1:69,54:123:99:1244,0,1846	20	0	1	0
chr13	52152646	52152646	T	C	exonic	NEK3	.	nonsynonymous SNV	NEK3:NM_001146099:exon5:c.A356G:p.H119R	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	.	.	-1.86	D	0.545	D	0.699	D	0.81	4.555	24.7	5.92	2.259	7.346	16.370	0.882	0.061701922285	.	0.000998403	0.0005	0	8.691e-05	0.0061	0	3.017e-05	0	0	0.0003881	60	154602	rs141399003	0.0001	0.0001	0.0001	0.0001	0.0037	0.0001	0.0001	0.0032	0.0030	0	2.255e-05	0	0.0037	0	0	3.241e-05	0.0001	0	0.0002	0.0002	0.0002	0.0002	0.0050	0.0001	0.0001	0.0035	0.0030	0	0	6.539e-05	0	0.0050	0	0	0	0	0	.	.	.	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.135	0.88152	M	.	.	.	.	.	.	0.98	0.99100	0.545	0.91170	D	0.699	0.89627	D	9	0.109850705	0.20508	T	0.061702	0.68417	D	.	.	.	.	0.429091045357	0.42525	0.9404636316206417	0.94027	.	.	0.671794116497	0.63094	T	0.190065	0.54449	T	-0.0409546	0.45805	T	0.171563	0.81503	D	0.237147584444888	0.22288	T	0.911709	0.72041	D	0.4568961	0.64478	0.44854242	0.67895	0.4568961	0.64479	0.44854242	0.67896	-12.378	0.86643	D	.	.	0.878	0.86484	P	.;.;.;.	.;.;.;.	4.557084	0.71774	25.7	0.99789044923107628	0.87484	0.98829	0.87402	D	AEFBI	0.864959	0.78390	D	0.743340063600151	0.82468	7.770603	0.755013363101041	0.86531	8.919167	0.999999395334807	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.92	5.92	0.95557	7.362000	0.78764	7.663000	0.64347	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	16.370	0.83187	718	0.55760	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	995.98	34	chr13	52152646	.	T	C	995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.712;DP=819;ExcessHet=0.0000;FS=6.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=-5.680e-01;SOR=1.169	GT:AD:DP:GQ:PL	0/1:66,46:112:99:1010,0,1545	20	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.995	D	0.000	D	0.987	D	3.165	M	-0.39	T	0.346	D	0.580	D	0.608	3.858	19.60	5.08	2.520	4.058	18.834	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	1218.29	151	chr13	69882456	.	G	A	1218.29	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-2.253e+00;DP=2755;ExcessHet=17.4423;FS=173.681;InbreedingCoeff=-0.5810;MLEAC=15;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.201;SOR=13.428	GT:AD:DP:GQ:PL	0/1:60,28:95:27:27,0,1032	5	0	15	1
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	0/1:175,61:247:99:255,0,4250	8	0	10	3
chr13	107866341	107866341	-	CTG	exonic	FAM155A	.	nonframeshift insertion	FAM155A:NM_001080396:exon1:c.255_256insCAG:p.Q86_R87insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1471.36	38	chr13	107866338	.	TCTG	TCTGCTG,T	1471.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-4.500e-02;DP=878;ExcessHet=0.3300;FS=0.598;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=0.033;SOR=0.636	GT:AD:DP:GQ:PL	0/1:24,32,0:56:99:1230,0,892,1302,988,2290	18	0	1	0
chr13	110176691	110176691	C	T	exonic	COL4A1	.	nonsynonymous SNV	COL4A1:NM_001845:exon35:c.G2903A:p.R968Q,	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Autosomal dominant;Brain small vessel disease with or without ocular anomalies, Autosomal dominant;Porencephaly 1, Autosomal dominant	YES	0	1516	5	1	0	7	0.00230339	.	.	194108	Brain_small_vessel_disease_1_with_or_without_ocular_anomalies|Autosomal_dominant_familial_hematuria-retinal_arteriolar_tortuosity-contractures_syndrome|not_provided	MONDO:MONDO:0008289,MedGen:C4551998,OMIM:175780,Orphanet:2940,Orphanet:36383,Orphanet:99810|MONDO:MONDO:0012726,MedGen:C2673195,OMIM:611773,Orphanet:73229|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.41	T	0.449	B	0.364	B	0.019	N	1.000	N	0.385	N	-3.23	D	-0.345	T	0.580	D	0.174	1.118	9.558	4.34	0.891	-0.336	4.237	0.244	0.0738064646741	7.7e-05	.	0.0001	9.632e-05	0.0002	0	0	0.0001	0	0.0002	0.0001229	19	154602	rs146288748	8.961e-05	8.961e-05	8.712e-05	9.213e-05	0.0005	7.689e-05	7.233e-05	0.0001	7.816e-05	2.987e-05	0.0002	0	2.519e-05	0	0.0005	8.993e-05	6.623e-05	0.0002	8.54e-05	8.536e-05	7.707e-05	9.412e-05	0.0003	4.956e-05	3.962e-05	8.876e-05	5.385e-05	2.412e-05	0	0.0003	0	0	0	0	0.0001	0	0	0.298	0.14595	T	0.655	0.06621	T	0.449	0.36046	B	0.364	0.43306	B	0.019126	0.27326	N	0.324291	0.999999	0.08975	N	0.86	0.21358	L	-3.23	0.93414	D	-0.62	0.18248	N	0.133	0.12913	-0.3453	0.73690	T	0.580	0.84880	D	10	0.16859084	0.31420	T	0.073806	0.71881	D	0.244	0.55061	.	.	0.620479444693	0.61740	0.6471600835659421	0.64651	0.506950961396	0.48887	0.288857698441	0.08756	T	0.393646	0.75300	T	-0.218638	0.18180	T	-0.255642	0.49258	T	0.040763618011765	0.03829	T	0.867913	0.56927	D	0.030958865	0.02851	0.049348976	0.07522	0.030958865	0.02851	0.049348976	0.07521	-3.626	0.18233	T	0.106254873563726	0.08520	0.071	0.03811	B	.	.	2.099930	0.26715	17.21	0.99299258518667199	0.58577	0.10989	0.16331	N	AEFBI	0.113444	0.22384	N	-0.361905948180846	0.26837	1.467763	-0.277309895507322	0.28846	1.611607	0.959937017326273	0.28457	0.744818	0.98587	0	0.59043	0.45803	0	0.732433	0.93434	0	0.711	0.71501	0	.	.	6.06	4.34	0.51267	-0.349000	0.07779	1.748000	0.28453	0.599000	0.40250	0.000000	0.06391	0.933000	0.28592	0.655000	0.32830	0.13:0.6092:0.1257:0.1351	4.237	0.10082	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1624.98	34	chr13	110176691	.	C	T	1624.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.435;DP=868;ExcessHet=0.0000;FS=0.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-1.394e+00;SOR=0.768	GT:AD:DP:GQ:PL	0/1:69,65:134:99:1639,0,1807	20	0	1	0
chr13	110456942	110456942	-	ATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.782_783insCGGCATCAGCCCCACGGACGCCTGGGGTCCCACGCAGAT:p.Q261delinsHGISPTDAWGPTQM,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.675e-05	1.751e-05	4.763e-05	4.61e-05	6.815e-05	2.14e-05	1.547e-05	2.59e-05	1.645e-05	0	6.655e-05	0	0	0	0	6.815e-05	0	3.383e-05	0.0016	0.0016	0.0018	0.0013	0.0021	0.0013	0.0012	0.0016	0.0015	0.0012	0	0.0008	0.0017	0.0005	0.0012	0	0.0021	0.0015	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4291.37	62	chr13	110456942	.	C	G,CATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	4291.37	.	AC=8,1;AF=0.444,0.056;AN=18;BaseQRankSum=2.30;DP=1158;ExcessHet=7.4688;FS=8.528;InbreedingCoeff=-0.4044;MLEAC=13,2;MLEAF=0.722,0.111;MQ=48.92;MQRankSum=2.86;QD=7.68;ReadPosRankSum=-4.184e+00;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,48,0:66:99:0|1:110456942_C_G:806,0,652,860,756,1616:110456942	0	0	8	12
chr13	110456968	110456968	C	-	exonic	COL4A2-AS2	.	frameshift deletion	COL4A2-AS2:NM_001267044:exon5:c.757delG:p.D253Tfs*105,	.	.	337	1183	1	1	0	3	0.00126636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs753573551	9.671e-06	0.0004	0	1.7e-05	6.003e-06	2.57e-06	7.1e-07	.	.	0	0	0	0	0.0001	0	6.003e-06	0	0	0.0009	0.0026	0.0010	0.0008	0.0020	0.0007	0.0007	0.0010	0.0008	0.0003	0	0.0016	0.0011	0.0015	0.0008	0	0.0010	0	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	404.16	47	chr13	110456967	.	TC	T	404.16	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.92;DP=792;ExcessHet=0.1072;FS=44.071;InbreedingCoeff=-0.0529;MLEAC=2;MLEAF=0.048;MQ=44.95;MQRankSum=0.935;QD=2.87;ReadPosRankSum=-4.060e+00;SOR=3.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,12:34:99:0|1:110456942_C_G:226,0,866:110456942	19	0	2	0
chr13	110457152	110457193	TGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCC	-	exonic	COL4A2-AS2	.	nonframeshift deletion	COL4A2-AS2:NM_001267044:exon5:c.532_573del:p.G178_A191del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312441160	0.0011	0.0098	0.0013	0.0009	0.0039	0.0010	0.0010	0.0032	0.0029	0.0018	0.0012	0.0014	0.0039	0.0004	0.0019	0.0009	0.0017	0.0005	3.351e-05	0.0012	6.529e-05	0	0.0001	5.56e-06	2.08e-06	.	.	0	0	0.0001	0	0	0	0	3.458e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	371.72	26	chr13	110457151	.	GTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCC	G	371.72	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.78;DP=639;ExcessHet=0.0000;FS=6.166;InbreedingCoeff=-0.0394;MLEAC=1;MLEAF=0.025;MQ=51.02;MQRankSum=-8.120e-01;QD=24.78;ReadPosRankSum=0.403;SOR=1.901	GT:AD:DP:GQ:PL	0/1:3,12:15:30:385,0,30	19	0	1	1
chr13	110642422	110642422	C	T	exonic	CARS2	.	nonsynonymous SNV	CARS2:NM_024537:exon14:c.G1516A:p.E506K	Combined oxidative phosphorylation deficiency 27, Autosomal recessive	.	389	1131	2	0	0	2	0.000883392	.	.	641560	not_provided|Inborn_genetic_diseases|Combined_oxidative_phosphorylation_defect_type_27	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014728,MedGen:C5567608,OMIM:616672,Orphanet:477774	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.36	T	0.135	B	0.013	B	0.014	N	1.000	N	1.405	L	1.59	T	-1.044	T	0.050	T	0.131	0.130	4.699	2.36	0.532	0.729	7.208	0.009	0.0067301076816	0.0002	0.000199681	0.0002	0.0004	0	0.0012	0	4.208e-05	0	0.0003	9.06e-05	14	154602	rs368624802	8.149e-05	8.414e-05	8.233e-05	8.065e-05	0.0007	6.933e-05	6.482e-05	0.0003	0.0002	0.0004	4.611e-05	0	0.0002	0	0.0007	3.979e-05	0.0004	0.0003	0.0001	0.0001	0.0002	0.0001	0.0006	9.139e-05	7.696e-05	0.0002	0.0001	0.0003	0	6.533e-05	0	0.0006	0	0.0034	4.41e-05	0	0.0002	0.333	0.13003	T	0.437	0.13441	T	0.135	0.27304	B	0.013	0.16460	B	0.014333	0.28565	N	0.403765	1	0.08975	N	2.045	0.56016	M	1.59	0.28836	T	-1.37	0.33998	N	0.243	0.27435	-1.0445	0.15971	T	0.050	0.21182	T	10	0.020424873	0.00470	T	0.00673	0.17784	T	0.009	0.00846	.	.	0.36893422563	0.36505	0.18897369520343577	0.18815	0.197323763495	0.22113	0.428788840771	0.29043	T	0.116054	0.43510	T	-0.492367	0.00631	T	-0.632648	0.10214	T	0.0151615425625169	0.00331	T	0.730127	0.34567	T	0.054062314	0.10320	0.06079956	0.11636	0.054062314	0.10319	0.06079956	0.11636	-5.233	0.39275	T	.	.	0.081	0.08368	B	.	.	1.192736	0.15842	12.14	0.95212753448433707	0.26421	0.13597	0.17946	N	AEFDBHCI	0.066372	0.12995	N	-0.805912415354061	0.13159	0.646309	-0.840002700998457	0.13528	0.7022639	0.999981623884906	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.12	2.36	0.28258	0.600000	0.23803	0.285000	0.16810	0.524000	0.24156	0.001000	0.13787	0.000000	0.08366	0.008000	0.08271	0.0:0.5973:0.2553:0.1474	7.208	0.25095	988	0.01987	.	.	.	.	.	.	Uncertain significance	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	2108.98	34	chr13	110642422	.	C	T	2108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=873;ExcessHet=0.0000;FS=3.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=1.51;SOR=0.452	GT:AD:DP:GQ:PL	0/1:60,86:146:99:2123,0,1299	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|1:118,85,0:203:99:0|1:112547505_C_T:3064,0,4628,3252,4829,8060:112547505	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	4/5:2,0,0,0,83,48:133:99:.:.:4553,4775,6363,4775,6363,6363,4775,6363,6363,6363,1488,3176,3176,3176,4207,3163,3327,3327,3327,0,3047	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	4/5:2,0,0,0,83,48:133:99:.:.:4553,4775,6363,4775,6363,6363,4775,6363,6363,6363,1488,3176,3176,3176,4207,3163,3327,3327,3327,0,3047	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	4/5:2,0,0,0,83,48:133:99:.:.:4553,4775,6363,4775,6363,6363,4775,6363,6363,6363,1488,3176,3176,3176,4207,3163,3327,3327,3327,0,3047	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|1:88,75,0:163:99:1|0:112547535_T_*:2783,0,3343,3047,3568,6616:112547535	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|1:290,122,0:412:99:0|1:113404039_G_A:2086,0,7968,2954,8328,11282:113404039	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|1:1,37,0:38:99:1|1:113404039_G_A:1403,103,0,1406,110,1413:113404039	4	5	6	3
chr13	113510409	113510409	C	T	exonic	TMCO3	.	nonsynonymous SNV	TMCO3:NM_001349742:exon6:c.C1018T:p.R340W	.	.	.	.	.	.	.	.	.	.	.	2357503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.983	D	0.000	D	0.998	D	1.645	L	2.23	T	-0.986	T	0.148	T	0.453	1.709	11.67	2.12	0.100	5.429	8.075	0.237	0.0409468977604	.	.	8.304e-05	0	0	0.0005	0	7.528e-05	0	6.299e-05	7.76e-05	12	154602	rs752452729	9.245e-05	9.235e-05	8.994e-05	9.5e-05	0.0001	7.967e-05	7.439e-05	9.207e-05	8.615e-05	2.991e-05	6.717e-05	0	0.0001	0	0	0.0001	4.976e-05	3.484e-05	3.944e-05	3.941e-05	2.57e-05	5.383e-05	8.819e-05	1.716e-05	1.13e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.004	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.983	0.75793	D	0.000002	0.62929	D	0.059161	0.997639	0.44054	D	2.135	0.59519	M	1.15	0.38236	T	-1.83	0.47683	N	0.757	0.81758	-0.9857	0.33663	T	0.148	0.47326	T	10	0.21024647	0.37413	T	0.040947	0.59658	D	0.237	0.54074	0.577	0.70217	0.162503812791	0.15892	0.7042283382936141	0.70364	0.890069565383	0.70193	0.584398269653	0.50705	T	0.020178	0.15936	T	-0.261083	0.12773	T	-0.31248	0.43392	T	0.282185077179066	0.24263	T	0.966603	0.88252	D	0.1412473	0.32555	0.07052965	0.14995	0.1412473	0.32555	0.07052965	0.14995	-10.844	0.82802	D	.	.	0.146	0.45421	B	.;.;.;.	.;.;.;.	4.669736	0.74619	26.2	0.9956574375050945	0.72075	0.90754	0.52198	D	AEFDBI	0.534598	0.55357	D	-0.0698350893667075	0.38721	2.272212	-0.221649524557981	0.30762	1.734828	0.984648065706452	0.30751	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	2.12	0.26372	5.450000	0.66369	3.188000	0.36689	-0.231000	0.07715	1.000000	0.71638	0.997000	0.33255	0.004000	0.06068	0.2771:0.6458:0.0:0.0772	8.075	0.29871	940	0.13648	Cation/H+ exchanger;.;.;Cation/H+ exchanger	.	.	.	.	.	Uncertain significance	0	0	0	0	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	1087.98	34	chr13	113510409	.	C	T	1087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=794;ExcessHet=0.0000;FS=5.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.24;ReadPosRankSum=-6.300e-02;SOR=1.524	GT:AD:DP:GQ:PL	0/1:29,38:67:99:1102,0,657	20	0	1	0
chr14	20747837	20747837	G	A	exonic	EDDM3A	.	nonsynonymous SNV	EDDM3A:NM_006683:exon2:c.G257A:p.S86N,	.	.	.	.	.	.	.	.	.	.	.	2714571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.001	B	0.001	B	0.423	N	1.000	N	1.1	L	0.94	T	-1.051	T	0.073	T	0.014	1.757	11.83	-1.21	-0.365	-0.497	5.105	0.054	0.00245575216734	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs532594291	1.984e-05	2.052e-05	2.45e-05	1.513e-05	2.608e-05	1.392e-05	1.203e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.12961	T	0.522	0.10391	T	0.001	0.07471	B	0.001	0.04355	B	0.423104	0.04660	N	1.378240	1	0.08975	N	0.405	0.12330	N	0.94	0.43672	T	1.0	0.01408	N	0.028	0.00618	-1.0510	0.14119	T	0.073	0.29675	T	10	0.028373152	0.00970	T	0.002456	0.04840	T	0.054	0.15330	0.147	0.05039	0.194818534648	0.19098	0.10616492581970637	0.10546	0.036009807883	0.03802	0.300982058048	0.10548	T	0.001993	0.01403	T	-0.476151	0.00779	T	-0.814078	0.01576	T	0.0474835187196732	0.05051	T	0.264674	0.04299	T	0.030141084	0.02626	0.05337572	0.08979	0.030141084	0.02625	0.05337572	0.08978	-3.531	0.16869	T	.	.	0.065	0.01834	B	.	.	0.351038	0.07241	3.840	0.94416396250383516	0.24819	0.00498	0.02351	N	AEFBI	0.018529	0.00569	N	-1.17509415503401	0.05378	0.2450481	-1.26639008852798	0.04893	0.2318861	0.697169479521736	0.22654	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.9	-1.21	0.09033	-0.479000	0.06647	1.884000	0.29472	0.373000	0.20310	0.010000	0.18352	0.941000	0.28781	0.823000	0.38780	0.487:0.0:0.513:0.0	5.105	0.14111	779	0.47767	Ribonuclease A-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	0.1111	147.34	118	chr14	20747837	.	G	A	147.34	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.194e+00;DP=1717;ExcessHet=0.6776;FS=228.147;InbreedingCoeff=-0.1516;MLEAC=4;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=-1.130e-01;SOR=10.330	GT:AD:DP:GQ:PL	0/1:50,21:71:62:62,0,1064	14	0	4	3
chr14	21087322	21087322	G	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon21:c.G2104A:p.A702T	.	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.999	D	0.96	D	0.000	D	1.000	D	0.69	N	4.29	T	-0.734	T	0.012	T	0.332	3.978	20.4	5.05	2.339	4.231	13.898	0.132	0.0189261813073	0.0044	0.00139776	0.0042	0.0007	0.0014	0	0.0067	0.0056	0.0090	0.0032	0.0041138	636	154602	rs55901089	0.0062	0.0062	0.0062	0.0063	0.0071	0.0061	0.0061	0.0070	0.0070	0.0010	0.0016	0.0023	2.523e-05	0.0073	0.0011	0.0071	0.0063	0.0029	0.0038	0.0038	0.0041	0.0035	0.0062	0.0036	0.0035	0.0057	0.0055	0.0011	0	0.0020	0.0029	0.0002	0.0063	0	0.0062	0.0019	0.0012	0.151	0.24564	T	0.045	0.49390	D	0.999	0.77913	D	0.96	0.70309	D	0.000248	0.46924	D	0.000000	0.607942	0.81001	D	1.445	0.36358	L	4.29	0.02462	T	-0.86	0.23372	N	0.488	0.52208	-0.7337	0.58776	T	0.012	0.04463	T	10	0.0101214945	0.00226	T	0.018926	0.41149	T	0.132	0.35948	.	.	0.503374072614	0.49975	0.37895161555303936	0.37810	0.840954648635	0.68066	0.708660542965	0.68400	T	0.009216	0.08406	T	-0.482514	0.00715	T	-0.463401	0.26230	T	0.0202180144932467	0.00722	T	0.817418	0.47426	T	0.12174102	0.28621	0.1018196	0.24385	0.12174102	0.28621	0.1018196	0.24384	-5.781	0.44408	T	.	.	0.397	0.59427	A	.	.	5.133952	0.85931	28.7	0.99868614860540739	0.94637	0.85461	0.44596	D	AEFDBHCIJ	0.596229	0.59048	D	0.416373474756849	0.62321	4.446252	0.456048396387857	0.65108	4.782028	0.999999998924645	0.74766	0.645754	0.44609	0	0.59043	0.45803	0	0.696144	0.63334	0	0.622129	0.49086	0	.	.	5.05	5.05	0.67566	4.395000	0.59439	10.003000	0.83052	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	13.898	0.63288	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	622.98	35	chr14	21087322	.	G	A	622.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.72;DP=741;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=0.249;SOR=0.582	GT:AD:DP:GQ:PL	0/1:18,20:38:99:637,0,425	20	0	1	0
chr14	22929213	22929213	T	G	exonic	PRMT5	.	nonsynonymous SNV	PRMT5:NM_001039619:exon1:c.A13C:p.N5H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	.	.	1.000	D	0.345	N	.	.	-1.058	T	0.073	T	0.058	1.254	10.09	1.24	0.415	0.223	2.826	0.149	0.0062656355789	.	.	2.473e-05	0	0	0	0	2.998e-05	0	6.075e-05	1.94e-05	3	154602	rs750970626	2.121e-05	2.121e-05	1.906e-05	2.338e-05	0.0001	1.52e-05	1.324e-05	6.247e-05	4.758e-05	0	2.236e-05	0	0	0	0	1.709e-05	1.656e-05	0.0001	1.975e-05	1.971e-05	2.573e-05	1.349e-05	2.418e-05	5.25e-06	2.46e-06	.	.	2.418e-05	0	0	0	0	0	0	1.472e-05	0.0005	0	0.024	0.91255	D	0.186	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.38	0.14588	N	0.399	0.44761	-1.0581	0.12235	T	0.073	0.29451	T	8	0.1365026	0.25970	T	0.006266	0.16435	T	0.149	0.39377	0.091	0.01065	0.35158688536	0.34763	.	.	.	.	.	.	.	.	.	.	-0.376256	0.03289	T	-0.541573	0.18143	T	0.10432717949152	0.12825	T	0.578742	0.20864	T	.	.	.	.	.	.	.	.	-3.834	0.25394	T	.	.	0.086	0.10787	B	.;.;.	.;.;.	1.944794	0.24705	16.49	0.80925919542576374	0.13435	0.39789	0.26291	N	AEFDGBHCI	0.256161	0.37514	N	-0.515147306304915	0.21590	1.146895	-0.379516602588657	0.25608	1.409328	0.999999999999937	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.84	1.24	0.20416	0.167000	0.16419	1.198000	0.24816	0.665000	0.62972	0.923000	0.32050	0.975000	0.29991	0.995000	0.73285	0.1868:0.1997:0.0:0.6135	2.826	0.05149	785	0.46916	.;.;.	.	.	.	.	.	Uncertain significance	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	2273.98	33	chr14	22929213	.	T	G	2273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.47;ReadPosRankSum=-1.740e+00;SOR=0.649	GT:AD:DP:GQ:PL	0/1:63,84:147:99:2288,0,1467	20	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.008	B	0.009	B	0.000	D	0.996	D	0.97	L	2.67	T	-1.062	T	0.026	T	0.315	2.700	14.99	4.09	2.615	3.447	14.766	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3667	974.79	119	chr14	24300437	.	G	C	974.79	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-4.960e+00;DP=2462;ExcessHet=7.7275;FS=350.718;InbreedingCoeff=-0.4950;MLEAC=13;MLEAF=0.433;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.16;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:104,38:142:99:.:.:136,0,2657	4	0	11	6
chr14	24306373	24306373	C	T	splicing	CIDEB	NM_014430:exon5:c.336+1G>A;NM_001318807:exon6:c.336+1G>A	.	.	.	.	423	1083	15	1	0	17	0.00778745	1.0000	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.173	16.62	5.03	2.621	2.669	17.286	.	.	0.0004	0.00119808	0.0007	0	0.0010	0	0	0.0007	0.0011	0.0016	0.000705	109	154602	rs146737422	0.0005	0.0005	0.0004	0.0005	0.0088	0.0004	0.0004	0.0069	0.0062	0.0001	0.0011	3.826e-05	0	5.616e-05	0.0088	0.0003	0.0007	0.0016	0.0006	0.0006	0.0006	0.0006	0.0027	0.0005	0.0005	0.0016	0.0013	0.0001	0	0.0016	0	0	9.413e-05	0.0034	0.0006	0.0028	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0242678	0.48243	T	0.167737	0.81274	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.239424	0.87955	29.4	0.99074824237317693	0.51810	0.95398	0.64564	D	AEFDGBCI	.	.	.	0.895515431003367	0.91537	10.93455	0.69412066821763	0.81933	7.644	0.99999999999964	0.74766	0.295142	0.05270	0	0.278934	0.05175	0	0.343423	0.05949	0	0.322829	0.05601	0	0.971825	0.74108	5.03	5.03	0.67015	5.327000	0.65659	7.426000	0.58753	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.033000	0.13494	0.0:1.0:0.0:0.0	17.286	0.87029	867	0.32089	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1500.98	36	chr14	24306373	.	C	T	1500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.964;DP=830;ExcessHet=0.0000;FS=1.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.43;ReadPosRankSum=-2.670e-01;SOR=0.537	GT:AD:DP:GQ:PL	0/1:48,56:104:99:1515,0,1219	20	0	1	0
chr14	34801177	34801177	T	C	exonic	BAZ1A	.	nonsynonymous SNV	BAZ1A:NM_013448:exon8:c.A878G:p.N293S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.001	B	0.470	N	0.954	N	0.205	N	0.49	T	-1.037	T	0.075	T	0.009	1.955	12.49	0.010	0.057	-0.817	4.781	0.047	0.0108301134929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.09155	T	0.868	0.03589	T	0.0	0.02946	B	0.001	0.04355	B	0.469896	0.04919	N	1.279500	0.954269	0.26375	N	0.315	0.10303	N	0.49	0.55775	T	-0.99	0.26200	N	0.029	0.00666	-1.0371	0.18202	T	0.075	0.30210	T	10	0.03860995	0.02292	T	0.01083	0.27810	T	0.047	0.12962	0.197	0.10975	0.248133497653	0.24425	0.14549512418622482	0.14472	0.21363709283	0.23881	0.308223843575	0.11638	T	0.017936	0.14543	T	-0.347857	0.04863	T	-0.737449	0.03998	T	0.0429265267772065	0.04223	T	0.667233	0.27634	T	0.017248742	0.00257	0.021575375	0.00204	0.017248742	0.00257	0.021575375	0.00204	-2.753	0.07759	T	.	.	0.059	0.00847	B	.;.;.	.;.;.	-0.056329	0.03909	0.861	0.92407764220679312	0.21821	0.06221	0.12208	N	AEDBI	0.034249	0.04210	N	-0.991106270078904	0.08792	0.4136405	-0.911145590001133	0.11831	0.6051257	0.00652843808996885	0.11241	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.13	0.00961	0.13401	-0.910000	0.04163	-1.145000	0.06197	0.609000	0.47794	0.004000	0.16614	0.002000	0.18203	0.726000	0.34967	0.0:0.2632:0.2918:0.445	4.781	0.12574	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	1	0	0	0	0.02381	625.98	34	chr14	34801177	.	T	C	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.726;DP=753;ExcessHet=0.0000;FS=4.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-1.727e+00;SOR=1.372	GT:AD:DP:GQ:PL	0/1:29,25:54:99:640,0,716	20	0	1	0
chr14	50723510	50723510	T	G	exonic	NIN	.	nonsynonymous SNV	NIN:NM_020921:exon31:c.A6355C:p.N2119H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.996	D	0.939	D	0.005	N	1.000	D	0.69	N	1.56	T	-1.039	T	0.098	T	0.134	3.878	19.71	5.62	2.266	5.421	9.753	0.069	0.0127990220681	.	0.000199681	8.293e-06	0	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs572352459	2.053e-05	2.052e-05	2.315e-05	1.788e-05	0.0004	1.456e-05	1.264e-05	0.0003	0.0002	0.0004	0	0	0	0	0	1.439e-05	0	0	3.948e-05	3.94e-05	3.862e-05	4.038e-05	0.0001	1.717e-05	1.131e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	1.472e-05	0	0	0.024	0.47745	D	0.047	0.48855	D	0.996	0.68779	D	0.939	0.67449	D	0.005287	0.32928	N	0.315765	1	0.81001	D	.	.	.	1.56	0.29602	T	-1.45	0.35597	N	0.343	0.38438	-1.0387	0.17709	T	0.098	0.36677	T	10	0.22942027	0.39869	T	0.012799	0.31686	T	0.069	0.20116	0.256	0.19689	0.548865971634	0.54542	.	.	.	.	0.574543476105	0.49319	T	.	.	.	-0.329709	0.06134	T	-0.529852	0.19300	T	0.71762228012085	0.41579	D	0.868613	0.57103	D	.	.	.	.	.	.	.	.	-5.069	0.37579	T	.	.	0.158	0.34927	B	.;.	.;.	4.332891	0.66407	25.0	0.99540396411539511	0.70461	0.96544	0.69671	D	AEFBI	0.679668	0.64362	D	0.548298295939868	0.69978	5.434593	0.593745154370098	0.74491	6.14592	0.999999386163376	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	5.513000	0.66754	6.053000	0.53107	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.077:0.0:0.923	9.753	0.39657	443	0.79878	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	989.98	40	chr14	50723510	.	T	G	989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=781;ExcessHet=0.0000;FS=1.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-1.231e+00;SOR=0.455	GT:AD:DP:GQ:PL	0/1:49,39:88:99:1004,0,1192	20	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.000	D	1.000	D	0.805	L	-3.44	D	0.114	D	0.666	D	0.186	0.389	6.113	5.8	2.219	4.529	9.930	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	2608.12	67	chr14	58213644	.	T	C	2608.12	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.303e+00;DP=1500;ExcessHet=54.0936;FS=246.126;InbreedingCoeff=-0.9696;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=1.77;ReadPosRankSum=0.737;SOR=12.205	GT:AD:DP:GQ:PL	0/1:47,17:64:4:4,0,892	0	0	21	0
chr14	60118678	60118678	C	T	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_022495:exon6:c.C1226T:p.A409V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.18	B	0.03	B	0.000	D	1.000	D	2.24	M	1.84	T	-1.093	T	0.072	T	0.408	3.456	17.71	5.23	1.487	4.358	12.417	0.075	0.00881927067505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.04e-06	8.893e-06	1.112e-05	2.853e-06	9.202e-06	3.56e-06	2.6e-06	4.65e-06	3.39e-06	0	0	0	0	0	0	9.202e-06	0	0	6.566e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.029	0.46129	D	0.196	0.43159	T	0.089	0.29046	B	0.017	0.21741	B	0.000000	0.84330	D	0.000000	0.999984	0.81001	D	1.93	0.51437	L	1.82	0.25182	T	-2.27	0.51811	N	0.214	0.25745	-1.0926	0.05112	T	0.072	0.29098	T	10	0.1736612	0.32205	T	0.008819	0.23269	T	0.075	0.21907	0.234	0.16305	0.180583059064	0.17676	0.6838740608051214	0.68326	0.0129856072913	0.01249	0.433189749718	0.29645	T	0.019989	0.24493	T	-0.0964561	0.37010	T	-0.376329	0.36151	T	0.776760935783386	0.44849	D	0.869013	0.57479	D	0.2856421	0.51585	0.22314222	0.47183	0.2856421	0.51584	0.22314222	0.47182	-5.461	0.41502	T	.	.	0.117	0.26232	B	.;.;.	.;.;.	3.369484	0.46553	22.3	0.99739434161826201	0.83409	0.98257	0.80997	D	AEFGBI	0.513372	0.54120	D	0.0874368603353201	0.45876	2.837015	0.23228248409557	0.51646	3.345476	0.999997430377815	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	5.23	0.72570	4.481000	0.59983	4.883000	0.45686	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8531:0.0:0.1469	12.417	0.54835	603	0.67726	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1371.98	34	chr14	60118678	.	C	T	1371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.395e+00;DP=856;ExcessHet=0.0000;FS=0.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=0.375;SOR=0.593	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1386,0,1271	20	0	1	0
chr14	63599584	63599584	C	T	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.G359A:p.S120N	.	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.982	D	0.000	D	1.000	D	2.42	M	1.32	T	0.030	D	0.516	D	0.363	3.906	19.86	5.62	2.822	5.217	20.038	0.381	0.0594224361531	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049802936	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0077	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0001	0.0003	0	9.703e-05	0	0.0001	0	0.0006	0.007	0.59928	D	0.039	0.51112	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999886	0.50402	D	2.965	0.85198	M	-0.43	0.69657	T	-2.55	0.56144	D	0.808	0.89353	0.030	0.82846	D	0.516	0.81864	D	10	0.729669	0.74211	D	0.059422	0.67659	D	0.381	0.69863	0.656	0.79379	0.877729270176	0.87653	0.7186202673877694	0.71805	0.524831200014	0.50162	0.595262765884	0.52236	T	0.207992	0.56779	T	0.0332654	0.56159	T	-0.189993	0.55590	T	0.930429217723231	0.59512	D	0.827217	0.49530	T	0.48401013	0.66143	0.44344863	0.67561	0.48401013	0.66143	0.44344863	0.67561	-7.728	0.59202	D	.	.	0.629	0.73000	P	.;.;.;.	.;.;.;.	4.225425	0.63950	24.6	0.99573687300498392	0.72561	0.98290	0.81308	D	AEFGBI	0.614141	0.60157	D	0.825638100531887	0.87680	9.302957	0.800925121913269	0.89858	10.15104	0.999999957718002	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	5.225000	0.65124	6.012000	0.52660	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.038	0.97569	854	0.34840	.;.;.;.	.	.	.	.	.	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	523.33	37	chr14	63599584	.	C	T	523.33	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.226e+00;DP=1226;ExcessHet=0.1072;FS=11.265;InbreedingCoeff=-0.0563;MLEAC=2;MLEAF=0.048;MQ=59.00;MQRankSum=-1.084e+01;QD=1.30;ReadPosRankSum=-2.818e+00;SOR=1.950	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,14:182:82:0|1:63599584_C_T:82,0,6939:63599584	19	0	2	0
chr14	63599585	63599585	T	G	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A358C:p.S120R	.	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.982	D	0.000	D	1.000	D	2.42	M	1.3	T	0.036	D	0.492	T	0.976	3.357	17.31	5.62	2.277	4.261	16.132	0.636	0.079113870758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889833191	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0079	0.0002	0.0003	0.0009	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0001	0.0003	0	9.696e-05	0	0.0001	0	0.0009	0.003	0.68238	D	0.04	0.50809	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999942	0.51968	D	2.965	0.85198	M	-0.44	0.69777	T	-3.76	0.71276	D	0.929	0.96758	0.036	0.82979	D	0.492	0.80698	T	10	0.849964	0.84171	D	0.079114	0.73159	D	0.636	0.86078	0.731	0.86460	0.915439794578	0.91458	0.8468957044921087	0.84650	0.578397025268	0.53743	0.607123553753	0.53909	T	0.217029	0.57935	T	0.339169	0.85780	D	0.249416	0.85593	D	0.985822659318314	0.76706	D	0.857114	0.55085	D	0.7603168	0.81472	0.71975005	0.83454	0.7603168	0.81473	0.71975005	0.83455	-12.65	0.87870	D	.	.	0.973	0.91683	P	.;.;.;.	.;.;.;.	4.634787	0.73723	26.0	0.99807925437057288	0.89174	0.97372	0.74333	D	AEFGBI	0.609297	0.59855	D	0.730345460544241	0.81622	7.565515	0.701598012198421	0.82500	7.782416	0.99988785508351	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	4.180000	0.58093	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.132	0.81260	854	0.34840	.;.;.;.	.	.	.	.	.	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	565.33	37	chr14	63599585	.	T	G	565.33	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.154;DP=1229;ExcessHet=0.1072;FS=11.265;InbreedingCoeff=-0.0563;MLEAC=2;MLEAF=0.048;MQ=58.99;MQRankSum=-1.084e+01;QD=1.40;ReadPosRankSum=-3.100e+00;SOR=1.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,15:183:99:0|1:63599584_C_T:124,0,6936:63599584	19	0	2	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X	.	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.496	24.1	4.69	2.826	2.723	16.526	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	536.85	53	chr14	63599753	.	G	A	536.85	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.700e-02;DP=1783;ExcessHet=0.3300;FS=7.440;InbreedingCoeff=-0.0767;MLEAC=3;MLEAF=0.071;MQ=59.03;MQRankSum=-1.129e+01;QD=0.85;ReadPosRankSum=-1.960e+00;SOR=1.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,15:204:61:0|1:63599753_G_A:61,0,7613:63599753	18	0	3	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	0/1:93,38:131:99:.:.:652,0,2669	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	0/1:93,30,3:126:99:.:.:616,0,2681,790,2935,4983	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	0/1:93,30,3:126:99:.:.:616,0,2681,790,2935,4983	16	0	4	0
chr14	64793547	64793547	G	A	exonic	SPTB	.	nonsynonymous SNV	SPTB:NM_001024858:exon13:c.C2116T:p.R706C	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	336572	not_provided|Spherocytosis,_Dominant|Elliptocytosis|Inborn_genetic_diseases	MedGen:C3661900|MedGen:CN239455|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.921	P	0.773	P	0.112	N	1.000	N	1.385	L	0.69	T	-0.933	T	0.137	T	0.444	2.138	13.10	4.69	2.320	2.176	12.649	0.196	0.0251433106747	0.0002	0.000399361	4.956e-05	0.0002	0.0002	0	0	3.006e-05	0	0	5.17e-05	8	154602	rs184962510	7.046e-05	7.046e-05	7.215e-05	6.875e-05	0.0004	5.913e-05	5.522e-05	0.0003	0.0002	0.0004	0.0003	0	2.519e-05	0	0.0003	5.306e-05	0.0001	5.797e-05	0.0001	0.0001	0.0002	0.0001	0.0004	9.146e-05	7.702e-05	0.0002	0.0001	0.0003	0	0.0004	0	0	0	0.0034	2.94e-05	0	0	0.003	0.68238	D	0.01	0.65728	D	0.921	0.51088	P	0.717	0.54739	P	0.111829	0.19383	N	0.550007	1	0.08975	N	1.625	0.41611	L	0.69	0.51714	T	-3.48	0.67941	D	0.374	0.41557	-0.9327	0.43740	T	0.137	0.45356	T	10	0.061317533	0.07668	T	0.025143	0.48119	D	0.196	0.47777	.	.	0.449242652821	0.44546	0.21736137450127166	0.21652	0.716288316527	0.61984	0.26318320632	0.05275	T	0.491056	0.81559	T	-0.297867	0.08862	T	-0.349486	0.39265	T	0.118402235913381	0.14273	T	0.865513	0.56452	D	0.19669063	0.41507	0.1626917	0.37779	0.19669063	0.41507	0.1626917	0.37778	-4.945	0.36775	T	0.3678586665343047	0.46368	0.099	0.19760	B	.;.;.;.;.	.;.;.;.;.	4.384594	0.67615	25.1	0.99900586090006838	0.97275	0.20108	0.20918	N	AEFGBI	0.535585	0.55415	D	0.107569261923633	0.46816	2.916225	0.0195697727500743	0.40625	2.427421	0.99794366224162	0.36224	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.69	4.69	0.58546	2.825000	0.47797	8.713000	0.78141	0.676000	0.76740	0.065000	0.21925	1.000000	0.68203	0.324000	0.25064	0.0:0.167:0.833:0.0	12.649	0.56113	467	0.78285	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2185.98	38	chr14	64793547	.	G	A	2185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.80;DP=1012;ExcessHet=0.0000;FS=0.494;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=0.668;SOR=0.758	GT:AD:DP:GQ:PL	0/1:148,88:236:99:2200,0,3757	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	1/1:0,15,0:15:45:675,45,0,675,45,675	0	19	0	0
chr14	70738300	70738300	G	A	exonic	MAP3K9	.	nonsynonymous SNV	MAP3K9:NM_001284232:exon7:c.C1015T:p.R339W	.	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.996	D	0.000	D	1.000	D	1.485	L	2.56	T	-1.194	T	0.089	T	0.896	3.672	18.66	5.97	2.837	5.520	20.428	0.261	0.0413931744124	0.0002	0.000399361	0.0005	0	0.0002	0	0	0.0004	0	0.0018	0.0003816	59	154602	rs142599599	0.0004	0.0004	0.0003	0.0004	0.0031	0.0003	0.0003	0.0020	0.0017	2.987e-05	0.0001	0	7.564e-05	0	0.0031	0.0003	0.0005	0.0020	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	9.698e-05	0.0004	0.0003	7.221e-05	0	0.0003	0	0	0	0	0.0002	0	0.0010	0.055	0.51248	T	0.014	0.62352	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999995	0.81001	D	1.965	0.53209	M	2.56	0.13673	T	-4.66	0.81030	D	0.739	0.90025	-1.1943	0.00197	T	0.089	0.34160	T	10	0.16843945	0.31395	T	0.041393	0.59904	D	0.261	0.57352	.	.	0.683016084099	0.68031	0.3876492769807547	0.38679	1.01292625865	0.74835	0.838591396809	0.87880	D	0.111438	0.81659	T	-0.154337	0.27635	T	-0.0134849	0.69457	D	0.170555304305258	0.18617	T	0.990201	0.96964	D	0.31134605	0.53902	0.33000213	0.58874	0.31134605	0.53902	0.33000213	0.58873	-8.024	0.62660	D	.	.	0.286	0.51840	B	.;.;.;.;.;.	.;.;.;.;.;.	5.300305	0.88984	29.8	0.99924663780018896	0.98980	0.99209	0.92840	D	AEFDBI	0.782750	0.71394	D	0.58049421409815	0.71958	5.730784	0.582470740974034	0.73683	6.010882	0.999999933218783	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	5.97	5.97	0.96935	5.266000	0.65339	9.930000	0.82573	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.310000	0.24737	0.0:0.0:1.0:0.0	20.428	0.99077	819	0.41190	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1843.98	34	chr14	70738300	.	G	A	1843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=898;ExcessHet=0.0000;FS=2.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=0.038;SOR=0.507	GT:AD:DP:GQ:PL	0/1:85,84:169:99:1858,0,1794	20	0	1	0
chr14	73922107	73922107	G	A	exonic	ZNF410	.	nonsynonymous SNV	ZNF410:NM_001242927:exon9:c.G952A:p.V318I	.	.	437	1073	12	0	0	12	0.0055607	.	.	2372504	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.956	D	0.001	N	1.000	D	0	N	3.07	T	-1.022	T	0.040	T	0.366	2.452	14.16	5.3	2.753	4.071	16.901	0.067	0.00624117687877	7.7e-05	0.000399361	0.0002	0	0	0	0	0.0001	0	0.0011	0.0001876	29	154602	rs372664039	0.0002	0.0002	0.0002	0.0002	0.0035	0.0002	0.0002	0.0023	0.0019	0	0.0001	0	0	0	0.0035	0.0001	0.0004	0.0014	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0	0.0002	0.0009	0.0008	0.118	0.91255	T	0.306	0.92824	T	0.643	0.40492	P	0.785	0.57495	P	0.001442	0.38980	N	0.000000	0.546559	0.81001	D	1.01	0.25309	L	3.02	0.09356	T	-0.4	0.25118	N	0.538	0.56576	-1.0215	0.23227	T	0.040	0.17063	T	10	0.03307873	0.01474	T	0.006241	0.16376	T	0.136	0.36778	.	.	0.15499578495	0.15088	0.142841941602386	0.14207	0.800589739096	0.66227	0.560118496418	0.47284	T	0.026612	0.19659	T	-0.407052	0.02080	T	-0.40303	0.33033	T	0.088879943355341	0.11084	T	0.89921	0.67274	D	0.055328384	0.10739	0.0646716	0.12995	0.055328384	0.10738	0.0646716	0.12995	-4.042	0.26185	T	.	.	0.096	0.16451	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.136392	0.42404	21.5	0.952429301120164	0.26489	0.89806	0.50512	D	AEFBI	0.495532	0.53086	N	0.436454677190312	0.63439	4.577605	0.514922159546573	0.68994	5.297341	0.999996727823021	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	4.579000	0.60647	10.022000	0.83139	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.901	0.85982	359	0.84979	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	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	1063.98	35	chr14	73922107	.	G	A	1063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.532e+00;DP=754;ExcessHet=0.0000;FS=4.117;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.646;SOR=0.464	GT:AD:DP:GQ:PL	0/1:39,45:84:99:1078,0,1069	20	0	1	0
chr14	74300166	74300166	C	G	exonic	ABCD4	.	nonsynonymous SNV	ABCD4:NM_001353591:exon2:c.G141C:p.L47F	Methylmalonic aciduria and homocystinuria, cblJ type, Autosomal recessive	.	1	1496	25	0	0	25	0.00828638	.	.	360112	Methylmalonic_acidemia_with_homocystinuria,_type_cblJ|Inborn_genetic_diseases|not_specified	MONDO:MONDO:0013925,MedGen:C3553915,OMIM:614857,Orphanet:369955|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.998	D	0.981	D	0.001	N	1.000	D	1.76	L	-3.64	D	0.570	D	0.823	D	0.649	2.968	15.90	1.93	1.210	-0.027	4.103	0.635	0.14285732486	0.0005	0.000998403	0.0006	9.641e-05	0.0002	0	0.0002	0.0008	0.0011	0.0012	0.0006209	96	154602	rs147446660	0.0005	0.0005	0.0004	0.0006	0.0086	0.0004	0.0004	0.0067	0.0060	0.0001	0.0002	0.0011	0	5.63e-05	0.0086	0.0003	0.0009	0.0021	0.0005	0.0005	0.0006	0.0004	0.0036	0.0004	0.0004	0.0023	0.0019	2.434e-05	0	0.0005	0.0009	0	0	0	0.0006	0.0024	0.0036	0.006	0.63226	D	0.008	0.67890	D	0.998	0.73220	D	0.981	0.75168	D	0.001193	0.39899	N	0.158012	0.997388	0.81001	D	1.73	0.44655	L	-3.64	0.95145	D	-3.0	0.67359	D	0.494	0.53445	0.570	0.91502	D	0.823	0.94044	D	10	0.035323203	0.01776	T	0.142857	0.82522	D	0.635	0.86027	0.66	0.79791	0.995713155787	0.99566	0.5605388446041493	0.55980	0.9082949663	0.70941	0.489047825336	0.37306	T	0.425643	0.93589	T	-0.103828	0.35792	T	0.0708179	0.74965	D	0.0762226017790259	0.09497	T	0.928807	0.73996	D	0.13454422	0.31257	0.12691249	0.30558	0.13454422	0.31257	0.12691249	0.30558	-4.619	0.32410	T	.	.	0.224	0.54116	B	.;.	.;.	3.304116	0.45370	22.1	0.99840903234902278	0.92143	0.11387	0.16600	N	AEFDBI	0.146883	0.27044	N	0.156077679935425	0.49100	3.114218	0.0409763992360276	0.41638	2.504903	0.992237264324619	0.32767	0.744818	0.98587	0	0.732433	0.95613	0	0.643519	0.47002	0	0.635259	0.50027	0	.	.	5.29	1.93	0.24985	-0.017000	0.12529	0.268000	0.16624	0.596000	0.33519	0.003000	0.16062	0.983000	0.30585	0.981000	0.58702	0.2631:0.4709:0.1867:0.0792	4.103	0.09493	445	0.79730	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	642.98	40	chr14	74300166	.	C	G	642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.100e-01;DP=819;ExcessHet=0.0000;FS=0.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.560;SOR=0.551	GT:AD:DP:GQ:PL	0/1:28,30:58:99:657,0,653	20	0	1	0
chr14	74858480	74858480	T	G	exonic	PROX2	.	nonsynonymous SNV	PROX2:NM_001243007:exon4:c.A1340C:p.K447T	.	.	8	1503	11	0	0	11	0.00364601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.74	M	0.38	T	-0.139	T	0.385	T	0.871	4.501	24.2	5.3	2.003	8.040	15.263	0.655	0.0326759135246	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1458233090	9.083e-06	8.893e-06	6.92e-06	1.129e-05	2.452e-05	5.07e-06	3.91e-06	4.62e-06	3.37e-06	0	0	0	0	0	0	9.13e-06	1.685e-05	2.452e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-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	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.103999	1	0.81001	D	.	.	.	0.38	0.57575	T	-5.5	0.85844	D	0.903	0.90363	-0.1392	0.79185	T	0.385	0.74047	T	10	0.8325588	0.82417	D	0.032676	0.54438	D	0.655	0.87035	0.357	0.35897	0.727978508315	0.72556	0.8226170539995037	0.82218	.	.	0.767907381058	0.77112	T	0.383096	0.74503	T	0.21867	0.75650	D	0.191283	0.82642	D	0.97449141740799	0.70532	D	0.994508	0.98160	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.862	0.80432	P	.	.	4.671667	0.74675	26.2	0.99775609016454281	0.86260	0.98626	0.84855	D	AEFI	0.912740	0.87377	D	0.826236022616293	0.87716	9.31559	0.774778682448774	0.87990	9.417491	0.999999999999278	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.3	5.3	0.74745	8.017000	0.88732	7.940000	0.75441	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.263	0.73340	721	0.55360	Homeo-prospero domain|Homeo-prospero 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	1090.98	33	chr14	74858480	.	T	G	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.760e-01;DP=829;ExcessHet=0.0000;FS=0.663;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.73;ReadPosRankSum=0.816;SOR=0.620	GT:AD:DP:GQ:PL	0/1:70,55:125:99:1105,0,1628	20	0	1	0
chr14	77027445	77027445	C	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6562	12393.38	37	chr14	77027445	.	C	T,*	12393.38	.	AC=20,1;AF=0.625,0.031;AN=32;BaseQRankSum=0.947;DP=915;ExcessHet=1.6165;FS=2.187;InbreedingCoeff=-0.1019;MLEAC=23,1;MLEAF=0.719,0.031;MQ=59.99;MQRankSum=0.00;QD=28.23;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,28,0:28:84:1|1:77027445_C_T:1203,84,0,1203,84,1204:77027445	1	6	8	5
chr14	77027448	77027451	CTGT	0	exonic	IRF2BPL	.	.	.	.	.	513	390	392	223	4	842	0.517923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12349.48	37	chr14	77027448	.	CTGT	C,*	12349.48	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.24;DP=882;ExcessHet=0.5132;FS=2.187;InbreedingCoeff=0.1429;MLEAC=20,1;MLEAF=0.476,0.024;MQ=59.99;MQRankSum=0.00;QD=28.00;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,28,0:28:84:1|1:77027445_C_T:1203,84,0,1203,84,1204:77027445	6	6	8	0
chr14	80914338	80914338	G	A	exonic	CEP128	.	nonsynonymous SNV	CEP128:NM_152446:exon4:c.C218T:p.A73V,	.	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.995	D	0.628	P	0.001	N	0.643	D	0.345	N	1.49	T	-1.126	T	0.005	T	0.628	3.638	18.50	5.15	2.548	6.230	15.903	0.167	.	0.0002	0.0147764	0.0064	0.0003	8.639e-05	0.0861	0	4.496e-05	0.0011	0.0013	0.0059167	154	26028	rs116769859	0.0024	0.0024	0.0024	0.0024	0.0753	0.0023	0.0023	0.0730	0.0721	0.0001	8.948e-05	0	0.0753	0	0.0003	4.68e-05	0.0049	0.0015	0.0028	0.0028	0.0025	0.0031	0.0724	0.0026	0.0025	0.0663	0.0639	0.0003	0	0.0010	0	0.0724	0	0	7.357e-05	0.0028	0.0023	0.253	0.21385	T	0.839	0.35840	T	0.987	0.67487	D	0.511	0.51677	P	0.001448	0.38980	N	0.164905	0.642855	0.32892	D	2.095	0.58118	M	1.49	0.45636	T	-1.37	0.74051	N	0.518	0.54845	-1.1257	0.01999	T	0.005	0.01833	T	10	0.0017378628	0.00022	T	.	.	.	0.167	0.42761	.	.	0.481246930725	0.47757	0.30553347982225343	0.30466	0.270010930718	0.29521	0.387776076794	0.23356	T	0.018784	0.19745	T	-0.386678	0.02826	T	-0.263982	0.48426	T	0.0160130281826876	0.00382	T	0.844016	0.53499	T	0.1275285	0.29840	0.12514852	0.30158	0.1275285	0.29839	0.12514852	0.30157	-6.63	0.54861	T	.	.	0.136	0.35643	B	.;.;.;.;.;.	.;.;.;.;.;.	6.567606	0.95415	35	0.99835602125602085	0.91714	0.94943	0.62871	D	AEFBI	0.622607	0.60687	D	0.202500772861817	0.51319	3.314201	0.321120566769074	0.56782	3.842172	0.99088673739326	0.32301	0.660377	0.49826	0	0.588015	0.36545	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	5.15	5.15	0.70287	5.989000	0.70262	11.718000	0.94767	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.903	0.79182	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	1310.98	34	chr14	80914338	.	G	A	1310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.549;DP=854;ExcessHet=0.0000;FS=3.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.80;ReadPosRankSum=1.86;SOR=0.453	GT:AD:DP:GQ:PL	0/1:87,62:149:99:1325,0,1937	20	0	1	0
chr14	87934749	87934749	C	T	exonic	GALC	.	nonsynonymous SNV	GALC:NM_001201401:exon16:c.G1972A:p.V658M	Krabbe disease, Autosomal recessive	YES	1	1518	3	0	0	3	0.000987167	.	.	204567	Galactosylceramide_beta-galactosidase_deficiency|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,Orphanet:487|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.998	D	0.976	D	0.001	D	1.000	D	2.72	M	-3.56	D	1.005	D	0.898	D	0.9	3.067	16.24	4.69	2.788	1.761	10.701	0.714	0.305239335284	.	0.000199681	0.0002	0	0.0002	0.0008	0	3.003e-05	0	0.0006	0.0001358	21	154602	rs200607029	7.529e-05	7.524e-05	7.083e-05	7.98e-05	0.0007	6.385e-05	5.942e-05	0.0006	0.0005	0	0	7.667e-05	0.0004	0	0	1.979e-05	0.0002	0.0007	7.229e-05	7.219e-05	5.144e-05	9.408e-05	0.0008	3.972e-05	3.128e-05	0.0003	0.0002	0	0	0	0	0.0004	0	0	5.884e-05	0.0005	0.0008	0.002	0.72154	D	0.004	0.76473	D	0.998	0.73220	D	0.976	0.73562	D	0.000654	0.42656	D	0.218759	0.931983	0.81001	D	2.945	0.84822	M	-3.56	0.94869	D	-1.88	0.43906	N	0.79	0.78641	1.005	0.97279	D	0.898	0.96615	D	10	0.63925993	0.68961	D	0.305239	0.91012	D	0.714	0.89831	0.636	0.77251	0.955291583424	0.95482	0.879927747788902	0.87960	0.58156249449	0.53951	0.380543738604	0.22333	T	0.843247	0.96363	D	0.174935	0.71576	D	0.417908	0.92677	D	0.189370686986006	0.19807	T	0.908709	0.67605	D	0.1294474	0.30233	0.17459469	0.39867	0.123469144	0.28990	0.19273944	0.42803	-6.612	0.53358	T	0.4220926189515186	0.51071	0.251	0.54933	B	.;.;.	.;.;.	4.145771	0.62150	24.4	0.9987529649400313	0.95244	0.65539	0.32771	D	AEFI	0.089598	0.18161	N	0.647091159752438	0.76180	6.439229	0.572622235894489	0.72983	5.896808	0.755474310927353	0.23426	0.706298	0.61202	0	0.633656	0.55848	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.6	4.69	0.58546	1.532000	0.35634	2.058000	0.30379	0.599000	0.40250	0.825000	0.30060	0.965000	0.29475	0.451000	0.27917	0.0:0.8488:0.0:0.1512	10.701	0.45123	904	0.23766	.;.;.	.	.	.	.	.	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	1027.98	34	chr14	87934749	.	C	T	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=807;ExcessHet=0.0000;FS=3.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-5.000e-02;SOR=1.083	GT:AD:DP:GQ:PL	0/1:60,43:103:99:1042,0,1441	20	0	1	0
chr14	91278128	91278128	G	A	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon29:c.C4852T:p.R1618W,	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	.	1	1511	10	0	0	10	0.00329815	.	.	725854	Inborn_genetic_diseases|CCDC88C-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.119	B	0.029	B	0.021	U	1.000	N	1.385	L	2.34	T	-0.976	T	0.099	T	0.223	0.879	8.567	4.05	1.086	0.917	7.383	0.061	0.0134613910287	.	0.000199681	0.0011	0.0002	0.0002	0	0	0.0002	0	0.0069	0.0008085	125	154602	rs573820836	0.0007	0.0007	0.0005	0.0009	0.0071	0.0007	0.0007	0.0066	0.0064	2.988e-05	6.717e-05	0	0.0001	3.762e-05	0.0030	0.0003	0.0007	0.0071	0.0004	0.0004	0.0003	0.0005	0.0066	0.0003	0.0003	0.0048	0.0042	9.62e-05	0	0	0	0	0	0	0.0003	0.0005	0.0066	0.003	0.68238	D	0.041	0.53788	D	0.009	0.15093	B	0.001	0.04355	B	0.021162	0.26887	U	0.178377	0.992863	0.23812	N	2.36	0.67893	M	0.7	0.51474	T	-2.96	0.61722	D	0.365	0.40665	-0.9759	0.35926	T	0.099	0.36856	T	10	0.003807038	0.00071	T	0.013461	0.32880	T	0.061	0.17616	0.327	0.31034	0.549290840505	0.54585	0.3476530149903494	0.34679	0.135941461379	0.15331	0.41852670908	0.27634	T	0.146126	0.48583	T	-0.49284	0.00627	T	-0.477678	0.24694	T	0.0261608245400736	0.01428	T	0.793221	0.43505	T	0.048088975	0.08327	0.046315424	0.06427	0.045137677	0.07335	0.050512742	0.07942	-6.16	0.47598	T	.	.	0.091	0.17657	B	.;.	.;.	1.193358	0.15847	12.15	0.96581142752854221	0.30333	0.81608	0.40978	D	AEFDBI	0.262278	0.38005	N	-0.576846034268236	0.19649	1.030053	-0.498669417426254	0.22191	1.204078	0.999999968003431	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.94	4.05	0.46415	0.392000	0.20527	0.775000	0.21430	-0.968000	0.01952	0.435000	0.26448	0.000000	0.08366	0.008000	0.08271	0.0781:0.0:0.6365:0.2854	7.383	0.26039	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1842.98	34	chr14	91278128	.	G	A	1842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.626;DP=894;ExcessHet=0.0000;FS=2.224;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=-1.003e+00;SOR=0.955	GT:AD:DP:GQ:PL	0/1:58,75:133:99:1857,0,1286	20	0	1	0
chr14	91325981	91325981	G	A	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon11:c.C1126T:p.R376W,	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	429607	not_specified|not_provided	MedGen:CN169374|MedGen:CN517202	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.978	D	0.88	P	0.001	U	1.000	D	2.965	M	0.33	T	-0.072	T	0.389	T	0.79	3.630	18.46	3.18	2.442	6.140	13.939	0.367	0.121908679267	.	.	0.0001	0	0	0	0	0.0003	0	0	5.17e-05	8	154602	rs754564295	4.798e-05	5.199e-05	4.965e-05	4.627e-05	0.0003	3.856e-05	3.533e-05	6.117e-05	3.783e-05	3.024e-05	0	0	2.577e-05	1.925e-05	0.0003	5.274e-05	8.393e-05	1.207e-05	3.288e-05	3.284e-05	2.571e-05	4.039e-05	7.349e-05	1.262e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.978	0.58756	D	0.88	0.62516	P	0.000627	0.42799	U	0.000000	1	0.81001	D	2.405	0.69568	M	0.33	0.58323	T	-6.67	0.92346	D	0.75	0.74918	-0.0723	0.80727	T	0.389	0.74357	T	10	0.8677491	0.86026	D	0.121909	0.80277	D	0.367	0.68670	0.663	0.80098	0.761946902992	0.75977	0.5549353555968913	0.55420	0.613478281511	0.55912	0.729620575905	0.71451	T	0.146395	0.48398	T	0.0435939	0.57515	T	0.019814	0.71619	D	0.949446082115173	0.63115	D	0.955104	0.82903	D	0.3829317	0.59528	0.39816186	0.64412	0.3829317	0.59528	0.39816186	0.64412	-11.598	0.82838	D	.	.	0.739	0.74599	P	.	.	4.999442	0.82944	27.9	0.99898690207399499	0.97124	0.93411	0.58145	D	AEFDBHCIJ	0.751892	0.69256	D	0.621944292851058	0.74564	6.154215	0.507410391796775	0.68489	5.226947	0.999999999942949	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.662433	0.64102	0	.	.	5.22	3.18	0.35615	6.275000	0.72616	6.473000	0.55719	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.0:0.0:0.7479:0.2521	13.939	0.63554	775	0.48401	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2684.98	33	chr14	91325981	.	G	A	2684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=929;ExcessHet=0.0000;FS=2.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-1.193e+00;SOR=0.532	GT:AD:DP:GQ:PL	0/1:110,102:212:99:2699,0,2603	20	0	1	0
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*74	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0066	0.0004	0.0003	0.0059	0.0057	0.0039	0.0002	0	0.0066	4.089e-05	0.0008	8.033e-05	0.0005	0.0003	0.0029	0.0030	0.0029	0.0030	0.0095	0.0027	0.0026	0.0087	0.0084	0.0095	0	0.0009	0	0.0069	0	0	0.0004	0.0010	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	36259.03	42	chr14	92071010	.	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	36259.03	.	AC=18,2,2,6,3,2;AF=0.429,0.048,0.048,0.143,0.071,0.048;AN=42;BaseQRankSum=0.860;DP=1771;ExcessHet=0.9430;FS=3.265;InbreedingCoeff=0.0101;MLEAC=18,2,2,6,3,2;MLEAF=0.429,0.048,0.048,0.143,0.071,0.048;MQ=59.43;MQRankSum=0.00;QD=25.62;ReadPosRankSum=1.57;SOR=1.013	GT:AD:DP:GQ:PGT:PID:PL:PS	4/6:0,0,0,0,8,0,10:18:99:.:.:2524,1768,1630,1768,1630,1630,1768,1630,1630,1630,530,526,526,526,362,1768,1630,1630,1630,526,1630,479,476,476,476,0,476,312	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	0/1:78,41:119:99:.:.:322,0,1496	0	0	21	0
chr14	96328709	96328709	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1939G:p.L647V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.997	D	0.991	D	0.000	U	1.000	D	2.075	M	2.88	T	-1.167	T	0.084	T	0.524	4.134	21.3	5.84	2.779	6.934	20.147	0.190	0.0210505278955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.126	0.35205	T	0.997	0.70673	D	0.991	0.79672	D	0.000024	0.55875	U	0.000000	0.99996	0.52935	D	1.84	0.48285	L	2.88	0.10291	T	-1.24	0.31375	N	0.642	0.65416	-1.1675	0.00589	T	0.084	0.32814	T	10	0.61223567	0.67508	D	0.021051	0.43757	T	0.190	0.46781	0.198	0.11110	0.586816528483	0.58355	0.3201478662071291	0.31927	0.652725768522	0.58449	0.597697973251	0.52579	T	0.005137	0.04581	T	-0.0899762	0.38080	T	-0.367021	0.37237	T	0.884093582630157	0.53431	D	0.913309	0.69109	D	0.17750946	0.38721	0.15349935	0.36067	0.17750946	0.38720	0.15349935	0.36066	-4.522	0.31175	T	.	.	0.095	0.14888	B	.	.	5.100309	0.85214	28.5	0.99806771792025484	0.89085	0.98731	0.86131	D	AEFBI	0.733095	0.67964	D	0.75656352154125	0.83333	7.989826	0.766028455875063	0.87348	9.19159	0.999996270545633	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	7.339000	0.78520	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.147	0.98079	966	0.07191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	76.72	34	chr14	96328709	.	G	C	76.72	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-9.610e-01;DP=932;ExcessHet=0.3300;FS=122.093;InbreedingCoeff=-0.1451;MLEAC=3;MLEAF=0.088;MQ=60.00;MQRankSum=0.00;QD=0.56;ReadPosRankSum=0.114;SOR=9.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,11:37:55:0|1:96328709_G_C:55,0,751:96328709	14	0	3	4
chr14	96328715	96328715	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1933G:p.L645V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.802	P	0.184	B	0.000	U	0.999	D	1.79	L	2.78	T	-1.038	T	0.027	T	0.612	3.086	16.30	5.84	2.779	5.501	14.927	0.089	0.0109553308418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	1.71e-05	1.365e-06	0	9.013e-07	0	0	.	.	0	0	0	0	0	0	9.013e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.157	0.31730	T	0.802	0.45105	P	0.184	0.35999	B	0.000461	0.44317	U	0.093440	0.99902	0.45899	D	1.355	0.33814	L	2.78	0.11298	T	-0.8	0.22078	N	0.43	0.46928	-1.0376	0.18048	T	0.027	0.11529	T	10	0.27002215	0.44531	T	0.010955	0.28062	T	0.089	0.25827	0.241	0.17371	0.481321013822	0.47762	0.285937600743724	0.28506	0.652725768522	0.58449	0.546917438507	0.45422	T	0.001307	0.00783	T	-0.0890419	0.38234	T	-0.365679	0.37394	T	0.912488400936127	0.56841	D	0.844016	0.52137	T	0.1511111	0.34369	0.108453274	0.26125	0.1511111	0.34368	0.108453274	0.26125	-4.536	0.31356	T	.	.	0.093	0.14108	B	.	.	3.546023	0.49826	22.8	0.99518916642557653	0.69100	0.97778	0.77065	D	AEFBI	0.585571	0.58394	D	0.354162227763407	0.58958	4.071638	0.464947464439595	0.65682	4.854823	0.999992539104278	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	5.885000	0.69480	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.857:0.143	14.927	0.70531	966	0.07191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	73.55	37	chr14	96328715	.	G	C	73.55	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.987e+00;DP=871;ExcessHet=0.3300;FS=110.264;InbreedingCoeff=-0.1186;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=0.178;SOR=8.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,11:36:58:0|1:96328709_G_C:58,0,729:96328709	16	0	3	2
chr14	99257616	99257616	G	T	exonic	BCL11B	.	nonsynonymous SNV	BCL11B:NM_001282237:exon2:c.C279A:p.D93E	.	.	.	.	.	.	.	.	.	.	.	1897976	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.3	T	0.429	B	0.051	B	0.013	N	1.000	D	1.525	L	2.58	T	-1.030	T	0.023	T	0.377	3.671	18.65	3.6	1.335	1.217	4.796	0.050	0.0039326788737	.	0.000798722	0.0006	0	8.642e-05	0	0	0	0	0.0041	0.0004657	72	154602	rs570461424	0.0003	0.0003	0.0001	0.0004	0.0044	0.0002	0.0002	0.0040	0.0039	0	0	0	0	0	0	8.994e-07	0.0001	0.0044	0.0001	0.0001	7.71e-05	0.0002	0.0041	8.662e-05	7.254e-05	0.0027	0.0023	0	0	0	0	0	0	0	0	0	0.0041	0.127	0.28520	T	0.543	0.11041	T	0.429	0.35556	B	0.05	0.25434	B	0.013315	0.28882	N	0.201473	0.968714	0.81001	D	1.355	0.33814	L	2.51	0.14284	T	-2.18	0.50175	N	0.251	0.39861	-1.0296	0.20583	T	0.023	0.09604	T	10	0.0068876147	0.00156	T	0.003933	0.09274	T	0.050	0.13987	0.269	0.21735	0.595711969413	0.59250	0.17752907044718652	0.17671	0.464731469048	0.45933	0.589256823063	0.51388	T	0.328872	0.69924	T	-0.482191	0.00718	T	-0.465144	0.26041	T	0.0548658057249467	0.06334	T	0.773323	0.40460	T	0.09210878	0.21599	0.12500615	0.30124	0.09210878	0.21599	0.12500615	0.30123	-8.719	0.65870	D	.	.	0.104	0.31482	B	.;.	.;.	1.937470	0.24609	16.46	0.99686050461114495	0.79574	0.85910	0.45099	D	AEFDBI	0.261685	0.37958	N	-0.0985237318334828	0.37457	2.179474	0.0342071318585576	0.41316	2.480085	0.999940312670506	0.47345	0.516011	0.20929	0	0.610034	0.51514	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.89	3.6	0.40374	2.485000	0.44909	2.326000	0.32165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.4671:0.0:0.5329:0.0	4.796	0.12641	978	0.04198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1859.98	33	chr14	99257616	.	G	T	1859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.800e-02;DP=844;ExcessHet=0.0000;FS=3.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.53;ReadPosRankSum=-5.430e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/1:59,69:128:99:1874,0,1583	20	0	1	0
chr14	103975449	103975449	G	C	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon7:c.G907C:p.V303L,	.	.	434	1084	4	0	0	4	0.00184162	.	.	3214000	TDRD9-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.27	T	0.953	P	0.672	P	0.066	N	0.967	D	0.895	L	3.9	T	-0.832	T	0.014	T	0.244	2.158	13.17	3.33	1.183	0.740	10.292	0.016	.	0.0008	0.00119808	0.0016	9.752e-05	0.0003	0	0.0120	0.0014	0.0022	0.0006	0.0014489	224	154602	rs147103471	0.0017	0.0017	0.0018	0.0017	0.0015	0.0017	0.0017	0.0015	0.0014	0.0004	0.0004	3.827e-05	0	0.0121	0.0014	0.0015	0.0017	0.0007	0.0021	0.0021	0.0015	0.0028	0.0014	0.0019	0.0018	0.0012	0.0011	0.0003	0	0.0007	0	0	0.0180	0	0.0014	0.0019	0.0012	0.024	0.47745	D	0.155	0.31936	T	0.073	0.24078	B	0.028	0.21332	B	0.066165	0.21829	N	0.376575	0.967095	0.38572	D	1.935	0.51832	L	3.89	0.03544	T	-1.53	0.37178	N	0.216	0.24135	-0.8317	0.53191	T	0.014	0.05753	T	10	0.0051170588	0.00111	T	.	.	.	0.023	0.04649	.	.	0.170165803431	0.16609	0.42724342476483135	0.42641	0.208088668149	0.23278	0.440129667521	0.30595	T	0.040974	0.25705	T	-0.544513	0.00315	T	-0.579559	0.14584	T	0.0193841248249143	0.00643	T	0.808619	0.45852	T	0.08166041	0.18774	0.09528713	0.22592	0.07936636	0.18127	0.096928425	0.23049	-5.887	0.45324	T	.	.	0.156	0.34602	B	.;.	.;.	1.875979	0.23830	16.17	0.98940409021674436	0.48921	0.58818	0.30745	D	AEFDI	0.318443	0.42214	N	-0.440942208071658	0.24048	1.295763	-0.413525267455948	0.24600	1.347979	0.0966612576169368	0.16259	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.16	3.33	0.37245	0.809000	0.26827	4.417000	0.43302	-0.106000	0.15538	0.342000	0.25692	1.000000	0.68203	0.341000	0.25455	0.2171:0.0:0.7829:0.0	10.292	0.42780	465	0.78421	Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1145.98	34	chr14	103975449	.	G	C	1145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.189;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=0.841;SOR=0.713	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1160,0,1442	20	0	1	0
chr14	104707532	104707537	CCCCAC	-	exonic	INF2	.	nonframeshift deletion	INF2:NM_001031714:exon8:c.1265_1270del:p.P427_P428del	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	83	1105	145	104	85	438	0.137729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	15742.8	47	chr14	104707525	.	ACCCCACCCCCAC	A,ACCCCAC	15742.8	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=0.324;DP=1468;ExcessHet=0.0509;FS=2.176;InbreedingCoeff=0.3577;MLEAC=10,4;MLEAF=0.238,0.095;MQ=60.00;MQRankSum=0.00;QD=30.55;ReadPosRankSum=1.57;SOR=0.392	GT:AD:DP:GQ:PL	1/1:3,45,0:48:17:1838,17,0,1847,143,1973	11	3	4	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,103,0:282:99:0|1:104946204_C_T:3755,0,7158,4294,7468,11761:104946204	1	7	12	0
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1634.86	67	chr15	20534699	.	CCTCCTG	*,C	1634.86	.	AC=10,4;AF=0.263,0.105;AN=38;BaseQRankSum=-1.160e+00;DP=1326;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5547;MLEAC=11,4;MLEAF=0.289,0.105;MQ=42.46;MQRankSum=-1.014e+00;QD=2.12;ReadPosRankSum=0.176;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:21,0,9:30:99:.:.:289,367,1322,0,869,825	5	0	10	2
chr15	20535305	20535305	G	A	exonic	GOLGA6L6	.	stopgain	GOLGA6L6:NM_001145004:exon8:c.C1129T:p.Q377X,	.	.	544	975	3	0	0	3	0.0015361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	2.901	15.67	.	0.149	2.579	.	.	.	.	0.00399361	0.0141	0.0132	0	0	.	0.0190	0	0	0.0002264	35	154602	rs28665153	0.0116	0.0086	0.0119	0.0114	0.0276	0.0114	0.0113	0.0260	0.0253	0.0028	0.0276	0.0098	6.092e-05	0.0105	0.0063	0.0126	0.0125	0.0076	0.0051	0.0052	0.0051	0.0052	0.0125	0.0048	0.0046	0.0106	0.0099	0.0014	0	0.0125	0.0042	0	0.0074	0	0.0059	0.0038	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.026	0.00527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297858	0.82796	D	0.190076	0.82574	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.266607	0.64883	24.8	0.97797846699532709	0.36046	0.16310	0.19329	N	AEFI	0.023047	0.01233	N	-0.0666653307467699	0.38862	2.282634	-0.489650941295436	0.22437	1.21871	6.47089315873219E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.058000	0.11707	-3.322000	0.02877	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	218.98	27	chr15	20535305	.	G	A	218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.243e+00;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=33.09;MQRankSum=-2.780e-01;QD=7.30;ReadPosRankSum=1.11;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,9:30:99:0|1:20535305_G_A:233,0,783:20535305	20	0	1	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L,	.	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1243,114,0	1	16	3	1
chr15	22613406	22613406	A	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon7:c.T455C:p.M152T,	.	.	488	1031	3	0	0	3	0.00145278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.93	P	0.649	P	.	.	.	.	.	.	2.64	T	-1.014	T	0.030	T	0.375	0.629	7.383	-0.211	-0.051	0.376	3.147	0.073	0.000305791545959	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776013478	0.0004	0.0003	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0011	0.0001	5.918e-05	0	2.995e-05	0.0004	0.0007	0.0003	0.0005	0.0014	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0	0	0	0.0002	0.0004	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	520.0	41	chr15	22613406	.	A	G	520.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.303e+00;DP=906;ExcessHet=0.0000;FS=6.515;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=27.67;MQRankSum=0.121;QD=7.12;ReadPosRankSum=0.797;SOR=1.005	GT:AD:DP:GQ:PL	0/1:48,25:73:99:534,0,1257	20	0	1	0
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5455	544.05	2	chr15	22768275	.	C	G,*	544.05	.	AC=8,4;AF=0.364,0.182;AN=22;BaseQRankSum=1.14;DP=74;ExcessHet=0.1935;FS=1.619;InbreedingCoeff=0.2348;MLEAC=12,6;MLEAF=0.545,0.273;MQ=53.08;MQRankSum=-9.670e-01;QD=15.11;ReadPosRankSum=-9.900e-02;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,3:3:10:1|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:124,123,122,10,10,0:22768260	3	3	2	10
chr15	22768297	22768297	A	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	115.02	2	chr15	22768297	.	A	C,*	115.02	.	AC=1,4;AF=0.033,0.133;AN=30;BaseQRankSum=0.00;DP=69;ExcessHet=0.0840;FS=0.000;InbreedingCoeff=0.1846;MLEAC=2,5;MLEAF=0.067,0.167;MQ=52.92;MQRankSum=-5.240e-01;QD=6.77;ReadPosRankSum=-1.282e+00;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,3:3:10:1|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:124,123,122,10,10,0:22768260	11	0	1	6
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	3|3:0,0,0,3:3:10:1|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:124,123,122,123,122,122,10,10,10,0:22768260	11	0	1	4
chr15	22768324	22768365	CATCTGCTCCTCCTGCTTCCGCATCTGCTCCTCCTGCTCCCA	-	exonic	GOLGA6L7	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0055	0.0042	0.0037	0.0050	0.0036	0.0035	0.0044	0.0042	0.0027	0.0068	0.0035	0.0046	0.0007	0.0052	0	0.0050	0.0027	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	123.41	1	chr15	22768323	.	CCATCTGCTCCTCCTGCTTCCGCATCTGCTCCTCCTGCTCCCA	C	123.41	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.431;DP=69;ExcessHet=0.1190;FS=4.771;InbreedingCoeff=-0.1169;MLEAC=2;MLEAF=0.053;MQ=54.96;MQRankSum=0.674;QD=30.85;ReadPosRankSum=-9.670e-01;SOR=2.258	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:54:0|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:69,0,54:22768260	17	0	2	2
chr15	22918704	22918704	T	G	exonic	CYFIP1	.	nonsynonymous SNV	CYFIP1:NM_001324125:exon11:c.A1148C:p.N383T	.	.	418	1103	1	0	0	1	0.000453104	.	.	3420032	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.992	D	0.987	D	0.000	D	1.000	D	1.1	L	1.83	T	-1.068	T	0.113	T	0.194	3.307	17.12	5.71	2.174	9.127	15.178	0.177	0.00581308170436	.	.	0.0001	0	0.0013	0	0	0	0	0	9.7e-05	15	154602	rs202236334	5.794e-05	5.891e-05	5.685e-05	5.905e-05	0.0016	4.772e-05	4.389e-05	0.0008	0.0006	6.138e-05	7.372e-05	0	0	0	0.0016	5.469e-05	8.457e-05	4.897e-05	3.287e-05	3.284e-05	3.856e-05	2.692e-05	6.547e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	0	0	6.547e-05	0	0	0	0	5.882e-05	0	0	.	.	.	0.865	0.03361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.849	0.84505	.	.	.	.	.	.	.	0.7585194	0.76166	D	.	.	.	.	.	.	.	.	.	0.9451156385437264	0.94493	.	.	.	.	.	0.122969	0.44700	T	.	.	.	.	.	.	.	.	.	0.905509	0.66687	D	.	.	.	.	.	.	.	.	-2.857	0.08720	T	.	.	0.186	0.40164	B	.;.	.;.	3.948324	0.57820	23.9	.	.	.	.	.	.	0.935007	0.92922	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.852000	0.85247	7.928000	0.74873	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	.	.	.	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	608.98	33	chr15	22918704	.	T	G	608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.479;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-2.480e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/1:22,26:48:99:623,0,492	20	0	1	0
chr15	23005548	23005548	C	A	exonic	TUBGCP5	.	nonsynonymous SNV	TUBGCP5:NM_001102610:exon19:c.G2596T:p.V866F	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.001	B	0.011	N	1.000	N	0.345	N	1.89	T	-1.047	T	0.031	T	0.182	0.872	8.534	-5.25	-0.909	-0.251	4.763	0.008	0.00393600373392	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs199994530	8.551e-05	8.551e-05	7.487e-05	9.625e-05	0.0009	7.312e-05	6.815e-05	0.0003	0.0002	0.0002	4.472e-05	0.0002	0	0	0.0009	7.914e-05	6.623e-05	0.0002	6.573e-05	6.567e-05	6.425e-05	6.727e-05	0.0001	3.518e-05	2.617e-05	5.843e-05	4.24e-05	4.828e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	0.041	0.50809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.21580	.	.	.	.	.	.	.	0.08687106	0.14808	T	.	.	.	.	.	.	.	.	.	0.6988809629853047	0.69829	.	.	.	.	.	0.02034	0.16033	T	.	.	.	.	.	.	.	.	.	0.784022	0.42156	T	.	.	.	.	.	.	.	.	-4.405	0.29625	T	.	.	0.074	0.04889	B	.;.	.;.	-0.437033	0.02079	0.192	.	.	.	.	.	.	0.062001	0.11892	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.393000	0.07366	-0.490000	0.08866	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	.	.	.	768	0.49510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1664.98	33	chr15	23005548	.	C	A	1664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.030e-01;DP=894;ExcessHet=0.0000;FS=2.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.72;ReadPosRankSum=-5.000e-03;SOR=0.512	GT:AD:DP:GQ:PL	0/1:117,74:191:99:1679,0,3080	20	0	1	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|2:75,0,26:101:99:1|0:23361377_G_A:372,597,3212,0,2615,2537:23361377	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	1/2:0,76,97:173:99:.:.:6138,3180,3852,3116,0,2822	0	0	2	0
chr15	23440520	23440540	TCTCCTCCTGCTCCCGCATCA	-	exonic	GOLGA6L2	.	nonframeshift deletion	GOLGA6L2:NM_001304388:exon8:c.1935_1955del:p.D645_G651del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1392523635	9.782e-06	8.127e-06	9.937e-06	9.632e-06	2.7e-06	4.95e-06	3.61e-06	4.5e-07	1.7e-07	0	0	0	0	0.0002	0	2.7e-06	0	0	6.621e-06	6.59e-06	0	1.354e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	836.94	154	chr15	23440519	.	TTCTCCTCCTGCTCCCGCATCA	T	836.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=2752;ExcessHet=0.0000;FS=1.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.77;MQRankSum=-2.144e+00;QD=4.76;ReadPosRankSum=0.391;SOR=0.924	GT:AD:DP:GQ:PL	0/1:144,32:176:99:851,0,5918	20	0	1	0
chr15	24676688	24676688	A	G	exonic	NPAP1	.	nonsynonymous SNV	NPAP1:NM_018958:exon1:c.A821G:p.Q274R,	.	.	423	1097	2	0	0	2	0.000910747	.	.	2756720	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.36	T	0.925	P	0.519	P	0.499	N	1.000	N	0.895	L	2.75	T	-1.009	T	0.024	T	0.1	1.630	11.41	-0.331	-0.087	-0.015	4.202	0.041	0.000911080049513	0.0002	.	0.0001	0.0001	0.0002	0	0	0.0002	0	6.064e-05	9.7e-05	15	154602	rs200204213	8.483e-05	8.482e-05	7.896e-05	9.076e-05	0.0003	7.209e-05	6.797e-05	0.0001	0.0001	0	0.0002	0	0	0	0.0003	9.083e-05	8.279e-05	5.797e-05	3.285e-05	3.283e-05	6.422e-05	0	7.348e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.348e-05	0	0	0.018	0.50676	D	0.53	0.10103	T	0.925	0.51395	P	0.519	0.48163	P	0.498827	0.05079	N	1.392350	1	0.08975	N	0.895	0.22405	L	2.75	0.11622	T	-1.58	0.38151	N	0.081	0.05670	-1.0093	0.27136	T	0.024	0.10194	T	10	0.07051703	0.10270	T	9.11E-4	0.00866	T	0.041	0.10877	.	.	0.0846915920261	0.08053	0.07547296686719404	0.07483	0.283751403844	0.30810	0.36280927062	0.19794	T	0.007673	0.07062	T	-0.555995	0.00268	T	-0.738865	0.03939	T	0.0531040839850903	0.06037	T	0.204979	0.02394	T	0.07633118	0.17257	0.051912937	0.08450	0.07633118	0.17257	0.051912937	0.08450	-3.28	0.13480	T	.	.	0.112	0.22098	B	.	.	1.056184	0.14379	10.95	0.96633096423318499	0.30524	0.02160	0.06344	N	AEFDHCI	0.038304	0.05399	N	-0.737260214172483	0.14981	0.7510254	-0.954218908157963	0.10825	0.547749	0.415525640980921	0.20248	0.487112	0.14033	0	0.573888	0.26702	0	0.440796	0.06475	0	0.564101	0.26826	0	.	.	2.07	-0.331	0.12050	-0.195000	0.09546	-0.249000	0.10523	0.381000	0.20407	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.6073:0.0:0.3927:0.0	4.202	0.09929	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1601.98	113	chr15	24676688	.	A	G	1601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.479;DP=1687;ExcessHet=0.0000;FS=0.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-1.445e+00;SOR=0.614	GT:AD:DP:GQ:PL	0/1:70,67:137:99:1616,0,1700	20	0	1	0
chr15	31229304	31229304	G	-	exonic	LOC283710	.	frameshift deletion	LOC283710:NM_001243538:exon2:c.75delC:p.R26Gfs*101,	.	.	454	9	11	367	681	1426	0.976409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	53256.77	60	chr15	31229302	.	CGG	C,CG	53256.77	.	AC=29,13;AF=0.690,0.310;AN=42;BaseQRankSum=1.54;DP=1738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=30,12;MLEAF=0.714,0.286;MQ=60.00;MQRankSum=0.00;QD=28.91;ReadPosRankSum=-3.970e-01;SOR=0.473	GT:AD:DP:GQ:PL	1/2:5,8,32:45:99:781,567,916,146,0,100	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|1:88,39:127:99:0|1:33066576_A_G:978,0,3239:33066576	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|1:88,39:127:99:0|1:33066576_A_G:978,0,3239:33066576	3	0	9	9
chr15	33066579	33066579	C	T	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306A:p.E436K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.984	D	0.001	D	.	.	.	.	0.21	T	-0.301	T	0.421	T	0.739	4.442	23.7	5.96	2.832	6.805	20.422	0.219	0.0640291295364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.172	0.63918	T	0.999	0.90584	D	0.984	0.76113	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.21	0.61798	T	-1.7	0.49684	N	0.735	0.73826	-0.3008	0.74963	T	0.421	0.76630	T	8	0.7212701	0.73678	D	0.064029	0.69152	D	0.219	0.51417	0.231	0.15855	0.748136256137	0.74586	.	.	0.0231449100248	0.02349	.	.	.	.	.	.	0.142383	0.68551	D	-0.0332535	0.68153	D	0.952831566333771	0.63885	D	.	.	.	.	.	.	.	.	.	.	.	-12.099	0.85330	D	.	.	0.586	0.71819	P	.;.	.;.	2.594882	0.33671	19.41	0.99883603428231948	0.95892	0.93420	0.58169	D	AEFBCI	0.825608	0.74527	D	0.777670272844729	0.84690	8.359056	0.801274126872763	0.89881	10.16146	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	559.28	59	chr15	33066579	.	C	T,G	559.28	.	AC=1,2;AF=0.038,0.077;AN=26;BaseQRankSum=-2.851e+00;DP=1869;ExcessHet=0.3300;FS=100.350;InbreedingCoeff=-0.2083;MLEAC=1,3;MLEAF=0.038,0.115;MQ=60.00;MQRankSum=0.00;QD=1.79;ReadPosRankSum=0.563;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:98,0,22:120:99:0|1:33066576_A_G:216,507,4143,0,3636,3573:33066576	10	0	1	8
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.993	D	0.001	D	.	.	.	.	0.2	T	-0.397	T	0.409	T	0.427	3.909	19.88	5.96	2.832	6.805	20.422	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	559.28	59	chr15	33066579	.	C	T,G	559.28	.	AC=1,2;AF=0.038,0.077;AN=26;BaseQRankSum=-2.851e+00;DP=1869;ExcessHet=0.3300;FS=100.350;InbreedingCoeff=-0.2083;MLEAC=1,3;MLEAF=0.038,0.115;MQ=60.00;MQRankSum=0.00;QD=1.79;ReadPosRankSum=0.563;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:98,0,22:120:99:0|1:33066576_A_G:216,507,4143,0,3636,3573:33066576	10	0	1	8
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	.	.	.	.	-0.38	T	0.078	D	0.453	T	0.277	2.615	14.70	4.1	0.875	-0.168	10.418	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	945.24	59	chr15	33066580	.	C	G	945.24	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-2.314e+00;DP=1836;ExcessHet=0.6776;FS=128.085;InbreedingCoeff=-0.2756;MLEAC=6;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.546;SOR=8.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,22:120:99:0|1:33066576_A_G:216,0,3573:33066576	8	0	4	9
chr15	40356171	40356171	T	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	5832.96	33	chr15	40356171	.	T	C,*	5832.96	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=0.782;DP=1060;ExcessHet=0.7503;FS=26.034;InbreedingCoeff=0.0319;MLEAC=8,3;MLEAF=0.267,0.100;MQ=59.86;MQRankSum=0.00;QD=14.77;ReadPosRankSum=-8.330e-01;SOR=1.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,12,0:47:99:0|1:40356171_T_C:336,0,1200,441,1236,1677:40356171	8	1	4	6
chr15	40356195	40356195	T	0	exonic	PHGR1	.	.	.	.	.	539	674	108	8	193	317	0.0842391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	4456.62	33	chr15	40356195	.	T	C,*	4456.62	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=-1.037e+00;DP=1008;ExcessHet=0.5418;FS=9.495;InbreedingCoeff=-0.1085;MLEAC=7,2;MLEAF=0.233,0.067;MQ=59.85;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-1.283e+00;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,22,0:62:99:0|1:40356171_T_C:500,0,1549,620,1605,2225:40356171	8	1	4	6
chr15	40356196	40356196	G	0	exonic	PHGR1	.	.	.	.	.	536	677	108	8	193	317	0.0838972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	4344.62	33	chr15	40356196	.	G	C,*	4344.62	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=0.941;DP=999;ExcessHet=0.5418;FS=8.160;InbreedingCoeff=-0.1085;MLEAC=7,2;MLEAF=0.233,0.067;MQ=59.84;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-1.374e+00;SOR=1.208	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,20,0:60:99:0|1:40356171_T_C:426,0,1555,546,1605,2151:40356171	8	1	4	6
chr15	40356197	40356197	G	0	exonic	PHGR1	.	.	.	.	.	535	678	108	8	193	317	0.0837838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	4345.87	33	chr15	40356197	.	G	A,*	4345.87	.	AC=6,2;AF=0.176,0.059;AN=34;BaseQRankSum=0.00;DP=1001;ExcessHet=0.5418;FS=8.243;InbreedingCoeff=-0.0558;MLEAC=7,2;MLEAF=0.206,0.059;MQ=59.84;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-1.551e+00;SOR=1.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,20,0:58:99:0|1:40356171_T_C:432,0,1512,546,1561,2108:40356171	10	1	4	4
chr15	40621714	40621714	A	G	exonic	KNL1	.	nonsynonymous SNV	KNL1:NM_144508:exon10:c.A1450G:p.M484V	Microcephaly 4, primary, autosomal recessive, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.759	P	0.187	B	0.000	D	1.000	N	2.31	M	2.04	T	-0.954	T	0.059	T	0.481	1.676	11.56	5.94	2.269	3.441	12.191	0.106	0.00709341859946	.	.	3.33e-05	0	0	0	0	6.026e-05	0	0	3.23e-05	5	154602	rs752739201	3.698e-05	3.694e-05	3.544e-05	3.854e-05	0.0005	2.897e-05	2.595e-05	0.0001	7.555e-05	0	2.24e-05	0	0	1.873e-05	0.0005	4.142e-05	4.971e-05	0	5.255e-05	5.253e-05	7.707e-05	2.689e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	2.412e-05	0	0	0	0	0	0	0.0001	0	0	0.007	0.59928	D	0.14	0.34009	T	0.759	0.43487	P	0.187	0.36167	B	0.000028	0.55875	D	0.075697	1	0.81001	D	.	.	.	2.04	0.20808	T	-2.57	0.55501	D	0.505	0.53708	-0.9542	0.40238	T	0.059	0.24871	T	10	0.26937047	0.44462	T	0.007093	0.18786	T	0.106	0.30130	.	.	0.548779645056	0.54534	0.4220247397735816	0.42119	0.0379999867787	0.04038	0.36309209466	0.19836	T	0.495673	0.81829	T	-0.204729	0.20126	T	-0.37549	0.36250	T	0.181403973969656	0.19323	T	0.533147	0.17760	T	0.2349856	0.46327	0.25351772	0.51000	0.2349856	0.46327	0.25351772	0.50999	-6.419	0.51000	T	0.6600017479360973	0.73334	0.177	0.43626	B	.;.;.	.;.;.	2.226792	0.28424	17.79	0.98252969420110958	0.39594	0.97500	0.75152	D	AEFBI	0.204798	0.33121	N	0.346448941271405	0.58553	4.028167	0.408031725712069	0.62064	4.415764	0.895777591097297	0.25962	0.732398	0.92422	0	0.653731	0.59785	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.94	5.94	0.96165	3.777000	0.55071	9.213000	0.79249	-0.040000	0.17491	0.998000	0.41325	1.000000	0.68203	0.658000	0.32913	0.9321:0.0:0.0679:0.0	12.191	0.53582	463	0.78548	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1223.98	80	chr15	40621714	.	A	G	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.110e+00;DP=1834;ExcessHet=0.0000;FS=0.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-9.500e-02;SOR=0.646	GT:AD:DP:GQ:PL	0/1:40,49:89:99:1238,0,1162	20	0	1	0
chr15	40624282	40624282	G	T	exonic	KNL1	.	nonsynonymous SNV	KNL1:NM_144508:exon10:c.G4018T:p.A1340S	Microcephaly 4, primary, autosomal recessive, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	2476583	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.73	T	0.019	B	0.013	B	0.604	N	1.000	N	-0.345	N	2.32	T	-0.985	T	0.013	T	0.177	0.014	4.085	-3.23	-0.435	-1.256	0.498	0.021	0.00176735739501	.	.	4.97e-05	0	0	0	0	7.494e-05	0	6.058e-05	5.17e-05	8	154602	rs764310658	4.994e-05	4.994e-05	4.901e-05	5.088e-05	0.0012	4.059e-05	3.734e-05	0.0006	0.0004	0	2.236e-05	0	0	1.874e-05	0.0012	4.587e-05	0.0001	6.956e-05	4.6e-05	4.597e-05	6.425e-05	2.69e-05	8.821e-05	2.109e-05	1.527e-05	3.762e-05	2.575e-05	2.413e-05	0	0	0	0	0	0	8.821e-05	0	0	0.229	0.18371	T	0.585	0.08505	T	0.007	0.17989	B	0.007	0.15521	B	0.604327	0.05664	N	1.224870	1	0.08975	N	.	.	.	2.32	0.16640	T	-0.27	0.11366	N	0.033	0.01999	-0.9853	0.33760	T	0.013	0.05273	T	10	0.04627055	0.03798	T	0.001767	0.03012	T	0.021	0.04004	.	.	0.0846915920261	0.08053	0.11093382128331554	0.11022	0.0374116781797	0.03967	0.241384193301	0.02916	T	0.02716	0.19952	T	-0.431075	0.01460	T	-0.665304	0.07912	T	0.0449456677981639	0.04592	T	0.531147	0.17633	T	0.034449313	0.03867	0.03742495	0.03392	0.034449313	0.03867	0.03742495	0.03391	-2.393	0.05090	T	0.5790308000829154	0.64591	0.111	0.24867	B	.;.;.	.;.;.	0.286389	0.06629	3.126	0.92668384724892827	0.22150	0.03574	0.08788	N	AEFBCI	0.031975	0.03525	N	-1.36099095644008	0.03012	0.1339094	-1.36566190873941	0.03624	0.1694563	0.925590276777297	0.26821	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.27	-3.23	0.04794	-1.031000	0.03689	0.320000	0.17174	0.610000	0.48991	0.000000	0.06391	0.011000	0.20116	0.108000	0.18652	0.345:0.2096:0.2459:0.1995	0.498	0.00537	472	0.77968	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1425.98	36	chr15	40624282	.	G	T	1425.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.330e-01;DP=1024;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=0.203;SOR=0.683	GT:AD:DP:GQ:PL	0/1:81,53:134:99:1440,0,2307	20	0	1	0
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.993	D	0.967	D	0.000	D	1.000	D	1.7	L	-3.11	D	0.770	D	0.844	D	0.554	4.377	23.1	5.9	2.793	9.434	20.272	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	252.56	57	chr15	41096253	.	G	C	252.56	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-3.708e+00;DP=1328;ExcessHet=0.6776;FS=161.759;InbreedingCoeff=-0.1234;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.522;SOR=9.149	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,17:79:50:.:.:50,0,1891	16	0	4	1
chr15	41892953	41892953	G	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon3:c.C325T:p.R109C,	.	.	425	1051	42	4	0	50	0.0232342	.	.	703181	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.022	N	0.780	N	2.725	M	-3.64	D	0.588	D	0.852	D	0.577	3.240	16.86	4.23	1.177	1.401	7.083	0.518	.	0.0047	0.00519169	0.0067	0.0008	0.0023	0.0001	0.0109	0.0055	0.0115	0.0190	0.0059896	926	154602	rs62002144	0.0059	0.0059	0.0054	0.0065	0.0194	0.0058	0.0058	0.0187	0.0184	0.0009	0.0018	0.0069	0.0001	0.0098	0.0123	0.0052	0.0054	0.0194	0.0045	0.0045	0.0042	0.0049	0.0168	0.0042	0.0041	0.0138	0.0127	0.0008	0	0.0010	0.0084	0.0002	0.0130	0.0068	0.0056	0.0033	0.0168	0.012	0.54683	D	0.0	0.92824	D	1.0	0.90584	D	0.976	0.73562	D	0.022126	0.26695	N	0.254865	0.780432	0.29339	N	2.725	0.79712	M	-3.64	0.95145	D	-6.07	0.89871	D	0.402	0.44283	0.588	0.91738	D	0.852	0.95059	D	10	0.01108104	0.00244	T	.	.	.	0.518	0.79461	.	.	0.909062185264	0.90815	0.3414786615204494	0.34060	.	.	0.387197256088	0.23273	T	0.715572	0.91920	D	-0.151643	0.28054	T	0.0236792	0.71869	D	0.0439313884945464	0.04408	T	0.805019	0.45286	T	0.15299022	0.34701	0.18223727	0.41137	0.15299022	0.34701	0.18223727	0.41137	-7.991	0.61009	D	.	.	0.105	0.19438	B	.	.	4.133912	0.61886	24.4	0.99926306310736157	0.99103	0.63426	0.32086	D	AEFDGBCI	0.172957	0.30001	N	0.465640810230071	0.65096	4.779666	0.353059705884213	0.58690	4.041311	0.999998565111531	0.74766	0.580535	0.33130	0	0.626922	0.53725	0	0.578056	0.29568	0	0.664235	0.64389	0	.	.	5.15	4.23	0.49319	1.457000	0.34822	5.313000	0.48269	0.676000	0.76740	0.802000	0.29747	1.000000	0.68203	0.271000	0.23793	0.0854:0.0:0.6319:0.2827	7.083	0.24420	151	0.94052	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1621.11	40	chr15	41892953	.	G	A	1621.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.71;DP=816;ExcessHet=0.1072;FS=0.658;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.319;SOR=0.794	GT:AD:DP:GQ:PL	0/1:45,29:74:99:780,0,1028	19	0	2	0
chr15	42685477	42685477	-	ACCCCATT	exonic	STARD9	.	frameshift insertion	STARD9:NM_020759:exon23:c.3899_3900insACCCCATT:p.E1304Pfs*10,	.	.	432	1070	14	0	6	20	0.00649954	.	.	703197	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0011	0.0045	0	7.12e-05	11	154602	rs775583719	0.0012	0.0011	0.0011	0.0014	0.0035	0.0012	0.0011	0.0029	0.0028	0.0016	0.0007	0.0012	2.811e-05	0.0004	0.0035	0.0011	0.0019	0.0033	0.0028	0.0029	0.0030	0.0026	0.0046	0.0026	0.0025	0.0035	0.0034	0.0023	0.0022	0.0018	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	6592.94	38	chr15	42685477	.	A	AACCCCATT	6592.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.197e+00;DP=3732;ExcessHet=0.0000;FS=1.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=-1.517e+00;QD=14.59;ReadPosRankSum=-8.750e-01;SOR=0.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:242,210:452:99:0|1:42685477_A_AACCCCATT:6607,0,8382:42685477	20	0	1	0
chr15	42685478	42685478	-	TGAGCTCCAA	exonic	STARD9	.	stopgain	STARD9:NM_020759:exon23:c.3900_3901insTGAGCTCCAA:p.P1301*,	.	.	450	458	440	156	18	770	0.450839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0012	0.0047	0	3.84e-05	1	26028	rs760755023	0.0012	0.0011	0.0010	0.0013	0.0035	0.0011	0.0011	0.0029	0.0028	0.0004	0.0006	0.0012	2.803e-05	0.0004	0.0035	0.0011	0.0018	0.0032	0.0023	0.0024	0.0026	0.0021	0.0046	0.0021	0.0020	0.0035	0.0034	0.0005	0.0022	0.0016	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	78588.79	38	chr15	42685478	.	G	A,GTGAGCTCCAA	78588.79	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-2.021e+00;DP=5578;ExcessHet=2.0984;FS=0.534;InbreedingCoeff=-0.0714;MLEAC=13,1;MLEAF=0.310,0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=-9.180e-01;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:242,0,210:452:99:0|1:42685477_A_AACCCCATT:6607,7335,16349,0,9013,8383:42685477	9	2	9	0
chr15	47765934	47765934	C	T	exonic	SEMA6D	.	nonsynonymous SNV	SEMA6D:NM_001358351:exon14:c.C1493T:p.A498V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.907	P	0.767	P	0.000	N	1.000	D	1.725	L	1.99	T	-1.087	T	0.093	T	0.289	2.780	15.26	4.77	1.406	3.334	14.381	0.068	0.0134984214484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.038	0.52727	D	0.907	0.50062	P	0.767	0.56720	P	0.000096	0.51296	N	0.201794	0.999326	0.47795	D	1.69	0.43327	L	1.99	0.21666	T	-2.65	0.57275	D	0.334	0.37509	-1.0867	0.06102	T	0.093	0.35255	T	10	0.25697744	0.43108	T	0.013498	0.32951	T	0.068	0.19811	0.419	0.46036	0.043077524339	0.03247	0.4742032582102288	0.47339	0.0773626685617	0.08700	0.301886856556	0.10682	T	0.333408	0.70326	T	-0.157166	0.27196	T	-0.463534	0.26216	T	0.949325680732727	0.63089	D	0.89931	0.64723	D	0.18057315	0.39185	0.17059931	0.39180	0.18057315	0.39185	0.17059931	0.39180	-9.83	0.73576	D	.	.	0.131	0.28778	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.725450	0.35659	19.96	0.99788615274999259	0.87484	0.92733	0.56413	D	AEFGBI	0.531966	0.55202	D	0.13009091673262	0.47870	3.006805	0.128850659411191	0.46030	2.855893	0.999999326366536	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.68	4.77	0.60425	3.407000	0.52394	4.044000	0.41450	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.969000	0.54022	0.0:0.9293:0.0:0.0707	14.381	0.66476	755	0.51144	.;Sema domain;.;.;Sema 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	1087.98	33	chr15	47765934	.	C	T	1087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.040e-01;DP=939;ExcessHet=0.0000;FS=1.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=1.22;SOR=0.872	GT:AD:DP:GQ:PL	0/1:60,43:103:99:1102,0,1631	20	0	1	0
chr15	48141130	48141130	C	A	exonic	SLC24A5	.	nonsynonymous SNV	SLC24A5:NM_205850:exon8:c.C1096A:p.P366T,	Albinism, oculocutaneous, type VI, Autosomal recessive	.	421	1100	1	0	0	1	0.000454339	.	.	1892307	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	3.32	M	-0.05	T	0.199	D	0.560	D	0.932	4.726	26.3	5.78	2.894	7.358	20.367	0.566	0.0639862753667	0.0002	.	0.0002	0	0	0	0	0.0002	0	0.0012	0.0002329	36	154602	rs147788058	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0012	0.0011	0	2.237e-05	0	0	0	0.0003	0.0003	0.0002	0.0014	0.0002	0.0002	8.998e-05	0.0002	0.0015	0.0001	9.239e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0002	0	0.0015	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.3	0.90472	M	-0.05	0.63403	T	-7.82	0.95977	D	0.928	0.94904	0.199	0.85898	D	0.560	0.83994	D	10	0.62241805	0.68053	D	0.063986	0.69136	D	0.566	0.82289	.	.	0.914126891962	0.91326	0.9182716371250894	0.91803	0.42405282143	0.42844	0.631505846977	0.57359	T	0.765378	0.93678	D	0.0761733	0.61590	D	0.296108	0.88019	D	0.712616562843323	0.41329	D	0.843016	0.51993	T	0.86288536	0.88305	0.8965776	0.94733	0.86288536	0.88307	0.8965776	0.94734	-10.015	0.75969	D	0.5500690276727405	0.61877	0.433	0.63085	A	.;.	.;.	5.059321	0.84316	28.3	0.99689782885345124	0.79842	0.99670	0.98521	D	AEFI	0.932224	0.92226	D	0.998093092822973	0.95685	13.86129	0.946399583785166	0.97295	15.89282	0.999999999649299	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.78	5.78	0.91418	7.415000	0.79344	7.598000	0.61467	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.367	0.98884	837	0.37933	Sodium/calcium exchanger membrane region;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	466.98	33	chr15	48141130	.	C	A	466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.646;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.448;SOR=0.671	GT:AD:DP:GQ:PL	0/1:32,19:51:99:481,0,825	20	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.995	M	-2.06	D	0.483	D	0.707	D	0.844	3.820	19.40	5.77	2.729	6.766	13.230	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3824	1772.96	148	chr15	51480616	.	G	C	1772.96	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-4.061e+00;DP=2481;ExcessHet=11.8493;FS=476.218;InbreedingCoeff=-0.5815;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.533;SOR=13.073	GT:AD:DP:GQ:PL	0/1:79,48:127:99:374,0,1627	4	0	13	4
chr15	65624503	65624503	G	C	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001301031:exon1:c.G423C:p.K141N	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.961	D	0.036	N	1.000	N	1.495	L	1.95	T	-0.665	T	0.376	T	0.064	2.879	15.59	2.88	0.719	0.773	6.818	0.071	0.0437088708563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0098	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0	7.768e-05	0	0	0	0.0002	8.519e-05	4.757e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.036487	0.24515	N	0.289027	1	0.08975	N	1.83	0.48079	L	-0.39	0.72125	T	-1.89	0.44094	N	0.193	0.26957	-0.6646	0.62072	T	0.376	0.73370	T	10	0.14750645	0.27949	T	0.043709	0.61120	D	0.071	0.20720	0.248	0.18447	0.814655732074	0.81291	0.06411332316461787	0.06350	0.277029944497	0.30173	0.317594438791	0.13056	T	0.022452	0.58404	T	-0.167159	0.25664	T	-0.477889	0.24671	T	0.523743510246277	0.33503	D	0.830817	0.50934	T	0.14003113	0.32323	0.15122224	0.35631	0.14003113	0.32323	0.15122224	0.35630	-5.061	0.37611	T	.	.	0.386	0.58803	A	.;.;.;.;.;.	.;.;.;.;.;.	1.694742	0.21594	15.27	0.99300094975893183	0.58577	0.11248	0.16507	N	AEFBI	0.045447	0.07435	N	-0.329018778326971	0.28049	1.543991	-0.502545089104272	0.22083	1.197762	0.0106939354388256	0.12067	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.78	2.88	0.32617	1.145000	0.31189	2.573000	0.33375	-0.106000	0.15538	0.012000	0.18695	0.972000	0.29809	0.129000	0.19529	0.2157:0.0:0.7843:0.0	6.818	0.23027	605	0.67457	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	954.92	37	chr15	65624503	.	G	C	954.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.957e+00;DP=1530;ExcessHet=0.6776;FS=181.776;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.31;ReadPosRankSum=1.77;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,35:175:99:.:.:376,0,4527	17	0	4	0
chr15	74072258	74072258	G	A	exonic	GOLGA6A	.	nonsynonymous SNV	GOLGA6A:NM_001038640:exon14:c.C1553T:p.T518M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.021	B	0.006	B	.	.	1.000	N	-2.35	N	1.97	T	-0.972	T	0.009	T	0.057	-2.677	0	-3.08	-0.857	0.207	1.000	0.027	0.00168270126752	.	.	0.0017	0.0035	0.0092	0.0051	0	0.0001	0.0023	0.0010	3.84e-05	1	26028	rs752731361	0.0004	0.0018	0.0004	0.0003	0.0071	0.0004	0.0003	0.0064	0.0062	0.0011	0.0048	0	0.0071	0	0.0002	1.349e-05	0.0004	0.0002	0.0012	0.0046	0.0011	0.0013	0.0079	0.0011	0.0010	0.0067	0.0063	0.0011	0	0.0079	0	0.0020	0	0	4.447e-05	0.0039	0.0006	0.296	0.14694	T	1.0	0.01155	T	0.021	0.18474	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-2.455	0.00064	N	1.97	0.22067	T	1.57	0.00677	N	0.11	0.09631	-0.9724	0.36691	T	0.009	0.03011	T	9	0.006852895	0.00156	T	0.001683	0.02779	T	0.027	0.05988	0.237	0.16760	0.0138822411134	0.00435	0.11663055396492457	0.11591	1.78550268228	0.91441	0.489605456591	0.37384	T	0.001307	0.00783	T	-0.685273	0.00045	T	-0.763908	0.02974	T	0.0176164157190372	0.00494	T	0.20168	0.02313	T	0.011767109	0.00022	0.02677526	0.00785	0.011767109	0.00022	0.02677526	0.00785	-5.114	0.38054	T	.	.	0.062	0.01252	B	.	.	-0.236041	0.02913	0.421	0.42590425614762761	0.03150	0.00655	0.02844	N	AEFI	0.040268	0.05965	N	-1.89900826124446	0.00345	0.01481682	-1.89515600191197	0.00501	0.02217462	7.61041393411946E-4	0.07758	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.55	-3.08	0.05022	0.934000	0.28510	-0.586000	0.08350	-0.970000	0.01946	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.197:0.1651:0.3986:0.2393	1.000	0.01384	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	219.07	44	chr15	74072258	.	G	A	219.07	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.47;DP=986;ExcessHet=0.0000;FS=1.893;InbreedingCoeff=-0.0300;MLEAC=1;MLEAF=0.024;MQ=41.77;MQRankSum=-1.790e+00;QD=2.74;ReadPosRankSum=1.05;SOR=0.899	GT:AD:DP:GQ:PL	0/1:62,18:80:99:233,0,1561	20	0	1	0
chr15	75268848	75268848	C	T	exonic	GOLGA6C	.	nonsynonymous SNV	GOLGA6C:NM_001164404:exon14:c.C1553T:p.T518M,	.	.	478	1041	3	0	0	3	0.00143885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.01	B	0.002	B	.	.	1.000	N	-2.24	N	1.97	T	-0.962	T	0.011	T	0.134	-2.242	0.004	.	-0.000	0.890	5.818	0.021	0.00205986021916	.	.	0.0015	0.0099	0	0	0	0.0012	0	0	0.000461	12	26028	rs763563111	0.0028	0.0033	0.0031	0.0026	0.0438	0.0027	0.0027	0.0417	0.0409	0.0031	0.0438	0	0.0135	0	0.0006	0.0002	0.0035	0.0015	0.0046	0.0089	0.0043	0.0050	0.0328	0.0043	0.0041	0.0295	0.0282	0.0044	0	0.0328	0	0.0070	0	0	9.875e-05	0.0106	0.0017	0.239	0.17761	T	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-3.155	0.00009	N	1.97	0.22067	T	1.57	0.00677	N	0.061	0.03283	-0.9617	0.38858	T	0.011	0.03949	T	8	0.0045684576	0.00095	T	0.00206	0.03775	T	0.021	0.04004	0.274	0.22528	0.0138822411134	0.00435	0.17643580179217894	0.17562	1.71623382196	0.90501	0.560921132565	0.47399	T	0.002424	0.01816	T	-0.305667	0.08136	T	-0.676846	0.07177	T	0.00812584191375751	0.00097	T	0.19498	0.02126	T	0.018852912	0.00409	0.044147443	0.05655	0.018852912	0.00409	0.044147443	0.05655	-5.102	0.37929	T	.	.	0.063	0.01534	B	.	.	-0.316323	0.02547	0.307	0.84185768624106028	0.15146	0.01822	0.05664	N	AEFI	0.035930	0.04705	N	-1.53391093877469	0.01631	0.07131119	-1.54397286924548	0.02018	0.09220659	0.00241385320332672	0.09408	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	1.626000	0.36650	-0.023000	0.12899	-0.657000	0.04367	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.999:0.0:0.001	5.818	0.17765	509	0.75304	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	392.76	18	chr15	75268848	.	C	T	392.76	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.912;DP=345;ExcessHet=0.1190;FS=2.866;InbreedingCoeff=-0.0617;MLEAC=2;MLEAF=0.053;MQ=35.20;MQRankSum=-1.645e+00;QD=8.73;ReadPosRankSum=-1.640e-01;SOR=1.193	GT:AD:DP:GQ:PL	0/1:3,2:5:45:45,0,75	17	0	2	2
chr15	75689635	75689635	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1430A:p.R477H,	.	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.513	P	0.079	B	0.000	D	0.953	N	1.79	L	2.14	T	-1.046	T	0.043	T	0.372	1.107	9.517	4.19	2.375	1.407	9.359	0.068	0.0120667652604	.	.	0.0066	0.0030	0.0036	0.0006	0.0030	0.0091	0.0045	0.0054	3.84e-05	1	26028	rs200493777	7.295e-05	0.0015	7.395e-05	7.193e-05	0.0008	6.151e-05	5.734e-05	0.0005	0.0005	0.0008	0.0001	0	0.0002	0.0001	0.0005	4.339e-05	6.65e-05	6.975e-05	0.0004	0.0022	0.0003	0.0004	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0.0003	0	0.0003	0	8.969e-05	0.0005	0.0004	0.544	0.06713	T	0.024	0.56640	D	0.513	0.37366	P	0.079	0.28749	B	0.000447	0.44317	D	0.096704	0.953023	0.26418	N	2.595	0.75868	M	2.14	0.19450	T	-1.73	0.41046	N	0.24	0.27077	-1.0460	0.15534	T	0.043	0.18326	T	10	0.00795725	0.00181	T	0.012067	0.30309	T	0.068	0.19811	.	.	0.366659145958	0.36277	0.5800590243062339	0.57934	0.423483163706	0.42806	0.293441236019	0.09426	T	0.182449	0.53447	T	-0.172229	0.24898	T	-0.485171	0.23899	T	0.0405854374412424	0.03796	T	0.773423	0.40508	T	0.036069673	0.04365	0.037466243	0.03404	0.036069673	0.04365	0.037466243	0.03404	-4.29	0.28037	T	.	.	0.075	0.05711	B	.	.	1.613444	0.20617	14.83	0.98479293593176109	0.41954	0.24936	0.22547	N	AEFBI	0.188776	0.31604	N	-0.352546072684954	0.27179	1.489096	-0.401571392193893	0.24950	1.369288	0.99754577931452	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.12	4.19	0.48645	0.882000	0.27824	1.349000	0.25794	0.524000	0.24156	0.003000	0.16062	0.750000	0.26544	0.003000	0.05239	0.0:0.8315:0.0:0.1685	9.359	0.37349	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1667	1598.59	40	chr15	75689635	.	C	T	1598.59	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.980;DP=1516;ExcessHet=2.5830;FS=16.480;InbreedingCoeff=-0.2002;MLEAC=7;MLEAF=0.167;MQ=58.06;MQRankSum=-9.104e+00;QD=2.13;ReadPosRankSum=-1.467e+00;SOR=2.354	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,9:106:81:0|1:75689631_A_G:81,0,3995:75689631	14	0	7	0
chr15	81300063	81300063	G	A	exonic	IL16	.	nonsynonymous SNV	IL16:NM_004513:exon2:c.G634A:p.E212K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.084	B	0.01	B	0.223	N	1.000	N	0.77	N	3.27	T	-1.019	T	0.025	T	0.286	2.203	13.32	3.41	1.032	1.562	12.363	0.027	0.0064358435196	.	.	9.199e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs776312860	6.365e-06	6.84e-06	5.594e-06	7.153e-06	9.426e-05	3e-06	2.17e-06	2.497e-05	1.292e-05	9.426e-05	2.642e-05	0	0	0	0	3.669e-06	1.719e-05	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	7.243e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	0	0	0	0.107	0.31532	T	0.672	0.06265	T	0.036	0.21998	B	0.006	0.12133	B	0.223104	0.16092	N	0.524360	1	0.08975	N	0.785	0.19527	N	2.67	0.12575	T	-1.54	0.40274	N	0.114	0.10198	-1.0192	0.23975	T	0.025	0.10553	T	10	0.07611278	0.11850	T	0.006436	0.16927	T	0.027	0.05988	0.215	0.13498	0.115124310173	0.11017	0.21934208993019821	0.21850	0.125504674622	0.14151	0.391204237938	0.23839	T	0.183089	0.53531	T	-0.375545	0.03323	T	-0.592577	0.13443	T	0.0396013639958718	0.03619	T	0.705629	0.31596	T	0.072976254	0.16274	0.06451139	0.12940	0.072976254	0.16274	0.06451139	0.12940	-4.076	0.26679	T	.	.	0.076	0.10931	B	.;.;.	.;.;.	1.355620	0.17637	13.28	0.98396977539323716	0.41020	0.29975	0.23962	N	AEFDGBHCI	.	.	.	-0.805465385257051	0.13170	0.6469491	-0.810531796448373	0.14240	0.743067	0.999999992965173	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.33	3.41	0.38145	0.931000	0.28471	0.602000	0.19937	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0827:0.0:0.9173:0.0	12.363	0.54540	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	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	1609.98	34	chr15	81300063	.	G	A	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=941;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=1.36;SOR=0.689	GT:AD:DP:GQ:PL	0/1:74,63:137:99:1624,0,1814	20	0	1	0
chr15	83008519	83008519	-	A	exonic	C15orf40	.	frameshift insertion	C15orf40:NM_001160113:exon3:c.394dupT:p.L132Ffs*69,	.	.	452	773	160	3	134	300	0.0969626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4025.8	36	chr15	83008518	.	CA	C,CAA	4025.8	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-3.980e-01;DP=1512;ExcessHet=11.8493;FS=0.573;InbreedingCoeff=-0.4535;MLEAC=5,8;MLEAF=0.119,0.190;MQ=59.99;MQRankSum=0.00;QD=4.26;ReadPosRankSum=0.964;SOR=0.734	GT:AD:DP:GQ:PL	0/2:56,5,37:102:99:642,779,2344,0,1134,1205	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	0/1:122,56,0:178:99:.:.:1118,0,3296,1482,3463,4945	8	0	5	0
chr15	84858139	84858139	C	T	exonic	ALPK3	.	nonsynonymous SNV	ALPK3:NM_020778:exon6:c.C3401T:p.A1134V,	.	.	409	1094	19	0	0	19	0.00860897	.	.	505269	not_specified|ALPK3-related_disorder|Cardiovascular_phenotype|not_provided	MedGen:CN169374|.|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.022	B	0.01	B	0.405	N	1.000	N	1.79	L	0.16	T	-1.002	T	0.131	T	0.158	0.409	6.223	0.158	0.469	0.024	2.739	0.015	0.0991630455031	0.0005	0.000399361	0.0012	0.0003	0.0018	0	0	0.0015	0.0014	0.0017	0.0001153	3	26028	rs139666355	0.0009	0.0009	0.0008	0.0009	0.0093	0.0008	0.0008	0.0073	0.0066	0.0005	0.0018	0.0039	0	0	0.0093	0.0007	0.0015	0.0014	0.0007	0.0007	0.0007	0.0006	0.0025	0.0006	0.0005	0.0014	0.0011	9.627e-05	0	0.0015	0.0029	0	0	0.0102	0.0007	0.0009	0.0025	0.009	0.57480	D	0.103	0.38305	T	0.022	0.18677	B	0.01	0.14941	B	0.405146	0.13071	N	0.720818	1	0.08975	N	1.545	0.39105	L	0.16	0.60610	T	-1.04	0.27259	N	0.053	0.02462	-1.0025	0.29197	T	0.131	0.44188	T	10	0.005576074	0.00123	T	0.099163	0.77063	D	0.015	0.02232	.	.	0.516217604878	0.51264	0.11891924480858854	0.11818	0.111437477428	0.12582	0.435870021582	0.30012	T	0.013169	0.11438	T	-0.458627	0.01003	T	-0.461641	0.26420	T	0.00349060985136757	0.00037	T	0.510949	0.16331	T	0.11256473	0.26591	0.078325756	0.17532	0.11256473	0.26591	0.078325756	0.17532	-4.546	0.31486	T	.	.	0.120	0.24633	B	.	.	0.605318	0.09738	6.506	0.97486891558126965	0.34219	0.12586	0.17359	N	AEFDGBI	0.100213	0.20156	N	-0.853872196482602	0.11955	0.579899	-0.919521836522363	0.11634	0.5938894	0.99702651272272	0.35208	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	4.69	0.158	0.14233	-0.391000	0.07383	-0.067000	0.12346	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.376000	0.26245	0.1741:0.3815:0.3402:0.1042	2.739	0.04926	641	0.64016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	904.98	35	chr15	84858139	.	C	T	904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.845e+00;DP=848;ExcessHet=0.0000;FS=8.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.76;ReadPosRankSum=-1.193e+00;SOR=0.780	GT:AD:DP:GQ:PL	0/1:18,36:54:99:919,0,448	20	0	1	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	0/1:45,62,0:107:99:1659,0,1002,1794,1187,2981	0	11	9	0
chr15	88858152	88858152	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5567A:p.S1856N	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	376734	not_provided|Meniere_disease|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.002	N	1.000	N	2.76	M	3.79	T	-1.094	T	0.066	T	0.254	3.899	19.82	5.56	2.618	7.142	18.513	0.225	0.013211905361	0.0011	.	0.0014	0	0.0007	0	0.0026	0.0019	0	0.0007	0.0012936	200	154602	rs200762388	0.0014	0.0014	0.0013	0.0014	0.0014	0.0013	0.0013	0.0014	0.0014	0.0001	0.0006	0.0021	0	0.0026	0.0003	0.0014	0.0016	0.0008	0.0010	0.0010	0.0010	0.0010	0.0014	0.0008	0.0008	0.0012	0.0011	0.0002	0	0.0008	0.0017	0	0.0018	0	0.0014	0.0009	0.0004	0.003	0.78490	D	0.024	0.56640	D	.	.	.	.	.	.	0.001877	0.37789	N	0.000000	0.999371	0.21289	N	.	.	.	3.79	0.04046	T	-2.32	0.53096	N	0.393	0.52475	-1.0941	0.04884	T	0.066	0.27191	T	10	0.03621176	0.01907	T	0.013212	0.32434	T	0.225	0.52323	.	.	0.75628909357	0.75407	0.6005349000290376	0.59984	0.746177584644	0.63531	0.549843132496	0.45835	T	.	.	.	-0.441223	0.01272	T	-0.413827	0.31786	T	0.0716508595910453	0.08881	T	0.850115	0.54290	D	0.30878377	0.53681	0.33646685	0.59448	0.30878377	0.53681	0.33646685	0.59448	-9.904	0.75176	D	0.12656324713814032	0.12801	0.448	0.63820	A	.;.;.;.;.;.	.;.;.;.;.;.	4.356630	0.66959	25.0	0.99670709967959203	0.78587	0.98354	0.81929	D	AEFBI	0.849396	0.76622	D	0.89993245169139	0.91756	11.04791	0.859269497821852	0.93545	12.11461	0.999995352848182	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.56	5.56	0.83678	6.788000	0.74893	11.787000	0.96267	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:1.0:0.0	18.513	0.90875	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2076.98	145	chr15	88858152	.	G	A	2076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.117e+00;DP=2548;ExcessHet=0.0000;FS=1.249;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=1.22;SOR=0.824	GT:AD:DP:GQ:PL	0/1:78,79:157:99:2091,0,2199	20	0	1	0
chr15	89333605	89333605	-	TGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCA:p.Q55_P56insQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:30,30,0,0:60:99:1063,0,1018,1155,1108,2263,1155,1108,2263,2263	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	0/1:30,30,0,0:60:99:1063,0,1018,1155,1108,2263,1155,1108,2263,2263	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	0/1:30,30,0,0:60:99:1063,0,1018,1155,1108,2263,1155,1108,2263,2263	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|2:0,19,17:36:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1484,668,623,775,0,737:89776889	0	0	0	0
chr15	89803683	89803683	C	G	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon7:c.G1401C:p.Q467H	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.986	D	0.000	D	0.997	D	2.635	M	4.04	T	-1.152	T	0.047	T	0.345	2.504	14.33	4.58	2.093	1.803	14.853	0.238	0.0388813148285	0.0002	.	0.0007	9.621e-05	0	0	0	9.022e-05	0	0.0048	0.0005757	89	154602	rs148567888	0.0003	0.0003	0.0002	0.0004	0.0049	0.0003	0.0003	0.0037	0.0035	5.975e-05	4.479e-05	0	0	0	0.0049	3.059e-05	0.0004	0.0040	9.847e-05	9.841e-05	5.139e-05	0.0001	0.0017	6.001e-05	4.875e-05	0.0008	0.0006	0	0	0	0	0.0002	0	0.0034	7.351e-05	0	0.0017	0.003	0.68238	D	0.007	0.69154	D	0.999	0.77913	D	0.986	0.76916	D	0.000001	0.62929	D	0.058208	0.997352	0.43821	D	2.285	0.65182	M	4.04	0.03121	T	-3.74	0.71042	D	0.558	0.58287	-1.1521	0.00963	T	0.047	0.20156	T	10	0.030548751	0.01182	T	0.038881	0.58482	D	0.238	0.54217	0.722	0.85673	0.668779650676	0.66598	0.5962080685427351	0.59550	0.515275590241	0.49436	0.525485098362	0.42399	T	0.316855	0.68835	T	-0.450992	0.01115	T	-0.420054	0.31070	T	0.153436396995055	0.17374	T	0.909909	0.68110	D	0.85339373	0.87587	0.7185164	0.83383	0.85339373	0.87589	0.7185164	0.83384	-11.234	0.80925	D	.	.	0.751	0.75084	P	.	.	3.927271	0.57374	23.8	0.99329090538237697	0.59700	0.87594	0.47185	D	AEFDBCI	0.729194	0.67698	D	0.444055843295137	0.63867	4.628875	0.328695120608168	0.57233	3.888242	0.999999954105724	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.645312	0.48771	0	0.735409	0.98432	0	.	.	4.58	4.58	0.56077	1.832000	0.38791	3.295000	0.37336	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.588000	0.31090	0.0:1.0:0.0:0.0	14.853	0.69946	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	0.02381	1694.98	38	chr15	89803683	.	C	G	1694.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.500;DP=1103;ExcessHet=0.0000;FS=1.222;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=0.292;SOR=0.798	GT:AD:DP:GQ:PL	0/1:96,69:165:99:1709,0,2536	20	0	1	0
chr15	92630242	92630242	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G448C:p.D150H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.966	D	0.000	D	1.000	D	2.305	M	-0.29	T	-0.147	T	0.392	T	0.666	2.912	15.70	5.31	2.489	6.837	17.723	0.311	0.073062026662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0016	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0	3.865e-05	0	0	0.0002	0.0002	8.467e-05	9.359e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.966	0.71341	D	0.000026	0.55875	D	0.067157	0.873479	0.54805	D	2.415	0.69758	M	-0.29	0.67712	T	-6.37	0.91058	D	0.842	0.83781	-0.1468	0.78995	T	0.392	0.74554	T	10	0.8345976	0.82617	D	0.073062	0.71693	D	0.547	0.81193	0.638	0.77470	0.411401001288	0.40751	0.7881159167461645	0.78763	1.26599244295	0.82158	0.709424495697	0.68509	T	0.284843	0.65763	T	0.152206	0.69474	D	-0.0191427	0.69085	D	0.991113245487213	0.81371	D	0.873813	0.58316	D	0.7585243	0.81366	0.70495456	0.82608	0.7585243	0.81367	0.70495456	0.82609	-14.968	0.95777	D	.	.	0.987	0.92764	P	.	.	5.202349	0.87272	29.2	0.94001699280494422	0.24097	0.88850	0.48980	D	AEFGBHCI	0.899320	0.84358	D	0.493323972852971	0.66696	4.983993	0.544622876438528	0.71025	5.592279	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.31	5.31	0.75063	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.723	0.88265	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	169.72	89	chr15	92630242	.	C	G	169.72	.	AC=2;AF=0.200;AN=10;BaseQRankSum=-1.250e+00;DP=1430;ExcessHet=0.1072;FS=150.388;InbreedingCoeff=-0.3155;MLEAC=5;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=0.79;ReadPosRankSum=-1.849e+00;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,9:102:43:0|1:92630242_C_G:43,0,3704:92630242	3	0	2	16
chr15	92630243	92630243	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G447C:p.E149D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.905	P	0.642	P	0.000	D	0.878	N	1.175	L	1.32	T	-0.949	T	0.094	T	0.151	1.600	11.31	-3.77	-0.468	0.094	12.886	0.082	0.00647740870007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.931e-06	0.0002	2.735e-06	1.518e-05	1.085e-05	4.98e-06	3.84e-06	5.78e-06	4.57e-06	0	0	0	0	0	0	1.085e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.14064	T	0.202	0.27414	T	0.905	0.49920	P	0.642	0.52168	P	0.000043	0.53742	D	0.070627	0.877532	0.28105	N	1.29	0.32370	L	1.32	0.35219	T	-1.78	0.42001	N	0.393	0.43417	-0.9486	0.41211	T	0.094	0.35631	T	10	0.22394639	0.39186	T	0.006477	0.17072	T	0.082	0.23913	0.268	0.21576	0.0138822411134	0.00435	0.271622458937736	0.27075	1.10128899491	0.77738	0.574964404106	0.49377	T	0.036879	0.24268	T	-0.214669	0.18726	T	-0.546133	0.17699	T	0.845151245594025	0.49752	D	0.824917	0.48720	T	0.10445555	0.24694	0.09527147	0.22589	0.10445555	0.24694	0.09527147	0.22588	-7.313	0.56288	T	.	.	0.225	0.45665	B	.	.	2.210674	0.28203	17.72	0.74021373359626774	0.10541	0.42009	0.26783	N	AEFGBHCI	0.099426	0.20014	N	-0.41939284014467	0.24789	1.341029	-0.432723637638818	0.24043	1.31443	0.999999998690202	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	-3.77	0.04062	0.178000	0.16634	-0.583000	0.08366	-0.257000	0.07002	0.993000	0.37899	0.025000	0.21018	0.980000	0.58198	0.0:0.31:0.0:0.69	12.886	0.57433	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	169.65	89	chr15	92630243	.	C	G	169.65	.	AC=2;AF=0.200;AN=10;BaseQRankSum=-1.021e+00;DP=1432;ExcessHet=0.1072;FS=158.605;InbreedingCoeff=-0.3155;MLEAC=5;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=0.79;ReadPosRankSum=-1.258e+00;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,9:102:43:0|1:92630242_C_G:43,0,3704:92630242	3	0	2	16
chr15	92630245	92630245	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G445C:p.E149Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.99	D	0.000	D	0.998	D	2.215	M	0.75	T	-0.227	T	0.332	T	0.339	2.881	15.60	5.38	2.525	6.837	17.872	0.193	0.0228964332442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.017	0.60337	D	1.0	0.90584	D	0.99	0.78936	D	0.000043	0.53742	D	0.070627	0.664441	0.44502	D	2.095	0.58118	M	0.75	0.50192	T	-2.73	0.58085	D	0.569	0.59223	-0.2273	0.76958	T	0.332	0.69960	T	10	0.60730934	0.67247	D	0.022896	0.45827	T	0.215	0.50805	0.404	0.43573	0.0401082797425	0.02173	0.4675481303851458	0.46673	1.15860135375	0.79410	0.565466284752	0.48038	T	0.190896	0.54557	T	-0.046153	0.45029	T	-0.304072	0.44293	T	0.961356455792854	0.66059	D	0.911409	0.68582	D	0.33561563	0.55928	0.20909509	0.45240	0.33561563	0.55928	0.20909509	0.45239	-8.763	0.66158	D	.	.	0.729	0.74160	P	.	.	4.587400	0.72525	25.8	0.98463620350359216	0.41768	0.88917	0.49082	D	AEFGBHCI	0.859421	0.77710	D	0.492419084689025	0.66645	4.977127	0.550374849278894	0.71422	5.652677	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	5.752000	0.49633	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04167	30.59	48	chr15	92630245	.	C	G	30.59	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.542e+00;DP=1689;ExcessHet=0.0000;FS=64.873;InbreedingCoeff=-0.1649;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=-9.400e-02;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,9:103:40:0|1:92630242_C_G:40,0,3711:92630242	11	0	1	9
chr15	92630248	92630248	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G442C:p.D148H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	0.000	D	1.000	D	2.085	M	0.33	T	-0.287	T	0.366	T	0.428	2.842	15.47	5.38	2.525	6.837	17.872	0.233	0.061949749731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.981	0.75168	D	0.000043	0.53742	D	0.070627	0.900708	0.50402	D	2.31	0.66127	M	0.33	0.58323	T	-5.55	0.86222	D	0.575	0.59732	-0.2875	0.75334	T	0.366	0.72628	T	10	0.7053839	0.72704	D	0.06195	0.68497	D	0.414	0.72479	0.564	0.68499	0.270889551736	0.26708	0.5128981161307481	0.51211	1.26599244295	0.82158	0.566754460335	0.48220	T	0.120299	0.44244	T	0.0290487	0.55597	T	-0.19605	0.55021	T	0.996697545051575	0.89883	D	0.909109	0.67839	D	0.73887527	0.80228	0.72065765	0.83506	0.73887527	0.80230	0.72065765	0.83507	-15.3	0.96517	D	.	.	0.796	0.77121	P	.	.	5.036038	0.83793	28.1	0.9865365078314744	0.44233	0.88917	0.49082	D	AEFGBHCI	0.873922	0.79653	D	0.477504834894099	0.65780	4.865564	0.540136420362585	0.70713	5.545969	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	37.02	48	chr15	92630248	.	C	G	37.02	.	AC=1;AF=0.100;AN=10;BaseQRankSum=-2.249e+00;DP=1361;ExcessHet=0.0000;FS=64.873;InbreedingCoeff=-0.2727;MLEAC=3;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=-2.920e-01;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,9:103:40:0|1:92630242_C_G:40,0,3711:92630242	4	0	1	16
chr15	98911384	98911384	G	A	exonic	IGF1R	.	nonsynonymous SNV	IGF1R:NM_000875:exon7:c.G1532A:p.R511Q	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	29833	Growth_delay_due_to_insulin-like_growth_factor_I_resistance|not_specified|not_provided	MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.56	T	0.476	P	0.027	B	0.000	D	1.000	A	2.255	M	-0.37	T	-0.611	T	0.226	T	0.714	3.064	16.23	5.67	2.837	4.891	14.326	0.254	0.02219603975	0.0015	0.000798722	0.0014	0.0003	0.0003	0	0.0002	0.0024	0.0022	0.0001	0.0016041	248	154602	rs33958176	0.0028	0.0028	0.0029	0.0027	0.0034	0.0027	0.0027	0.0033	0.0033	0.0002	0.0004	0.0028	0	0.0003	0.0007	0.0034	0.0027	0.0002	0.0017	0.0017	0.0018	0.0016	0.0030	0.0015	0.0015	0.0027	0.0026	0.0005	0	0.0014	0.0023	0	9.423e-05	0	0.0030	0.0014	0	0.597	0.06145	T	0.572	0.19073	T	0.188	0.36665	B	0.016	0.21085	B	0.000049	0.53742	D	0.000000	0.999848	0.49770	A	2.115	0.58683	M	-0.37	0.73949	T	-0.57	0.28906	N	0.349	0.42050	-0.6108	0.64370	T	0.226	0.59096	T	9	0.008615732	0.00195	T	0.022196	0.45064	T	0.254	0.56428	.	.	0.846087805279	0.84461	0.7290749888736927	0.72852	0.733860430023	0.62867	0.52810561657	0.42767	T	0.440796	0.78557	T	-0.203307	0.20328	T	-0.053136	0.66807	D	0.0205880874629327	0.00759	T	0.918008	0.78384	D	0.20096453	0.42090	0.14691411	0.34789	0.23413454	0.46229	0.1346258	0.32254	-7.346	0.56522	T	0.2843677419150365	0.38015	0.165	0.36436	B	.;.;.;.;.	.;.;.;.;.	4.300004	0.65647	24.9	0.99733804624893996	0.82975	0.96552	0.69711	D	AEFGBI	0.385957	0.46650	N	0.202412991127524	0.51316	3.313809	0.344738443105416	0.58190	3.988267	0.999999972204837	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	5.003000	0.63708	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.071:0.0:0.9289:0.0	14.326	0.66079	988	0.01987	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2239.98	36	chr15	98911384	.	G	A	2239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=861;ExcessHet=0.0000;FS=2.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-4.100e-01;SOR=0.542	GT:AD:DP:GQ:PL	0/1:80,91:171:99:2254,0,1826	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	0/1:62,61:123:99:1641,0,1634	18	0	3	0
chr16	666739	666739	G	A	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon39:c.G4951A:p.V1651M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.868	P	0.690	U	1.000	N	1.7	L	3.34	T	-0.777	T	0.332	T	0.341	3.191	16.68	2.49	0.869	2.076	4.527	0.095	0.122975252903	.	.	1.677e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs746230794	6.162e-06	6.156e-06	4.087e-06	8.258e-06	5.974e-05	2.9e-06	2.1e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	0	0	0	3.597e-06	1.656e-05	1.159e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0.0002	0.051	0.41637	T	0.02	0.58613	D	0.996	0.73220	D	0.742	0.61700	P	0.689860	0.10185	U	0.837650	0.999834	0.20152	N	2.135	0.59519	M	3.34	0.67011	T	-1.25	0.40850	N	0.145	0.34874	-0.7770	0.56470	T	0.332	0.69919	T	10	0.17171967	0.31905	T	0.122975	0.80405	D	0.102	0.29158	0.527	0.63263	0.242244723065	0.23846	0.33949312622946076	0.33862	0.547044844208	0.51677	0.328972965479	0.14778	T	0.038396	0.24824	T	-0.120809	0.32992	T	-0.328445	0.41643	T	0.443010167517364	0.30540	T	0.80392	0.46649	T	0.03885748	0.05257	0.05266818	0.08721	0.03885748	0.05256	0.05266818	0.08721	-8.183	0.62310	D	.	.	0.181	0.42259	B	.;.;.;.	.;.;.;.	3.134422	0.42367	21.5	0.99573219403945501	0.72501	0.12107	0.17064	N	AEFGBI	0.124030	0.23990	N	-0.157859529637706	0.34902	1.998036	-0.364798967094195	0.26054	1.436737	0.999969004608453	0.48965	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.47	2.49	0.29274	1.723000	0.37675	1.810000	0.28954	-0.165000	0.11486	0.006000	0.17386	0.006000	0.19429	0.000000	0.00833	0.1909:0.0:0.6319:0.1771	4.527	0.11390	649	0.63102	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	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	1271.98	78	chr16	666739	.	G	A	1271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=1265;ExcessHet=0.0000;FS=3.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.563;SOR=0.448	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1286,0,1182	20	0	1	0
chr16	716974	716974	G	A	exonic	METRN	.	nonsynonymous SNV	METRN:NM_024042:exon3:c.G547A:p.A183T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.068	B	0.014	B	0.010	N	1.000	N	1.1	L	.	.	-1.026	T	0.067	T	0.389	1.259	10.11	2.06	0.365	1.086	3.715	0.056	0.00571539674708	.	.	2.762e-05	0	0	0	0	4.88e-05	0	0	3.23e-05	5	154602	rs754170916	1.449e-05	2.531e-05	8.23e-06	2.083e-05	2.529e-05	9.31e-06	7.9e-06	1.018e-05	8.4e-06	0	0	0	2.529e-05	0	0	1.629e-05	3.341e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.07	0.47828	T	0.068	0.23728	B	0.014	0.16862	B	0.010445	0.29920	N	0.313360	1	0.20548	N	2.2	0.62015	M	1.57	0.29342	T	-0.54	0.18670	N	0.191	0.21056	-1.0262	0.21690	T	0.067	0.27468	T	9	0.17910671	0.33029	T	0.005715	0.14802	T	0.056	0.15993	0.446	0.50466	0.0551355673512	0.04727	0.5772410575240071	0.57653	0.556899901416	0.52327	0.476079583168	0.35518	T	0.034587	0.23434	T	-0.160333	0.26709	T	-0.398246	0.33588	T	0.378901094198227	0.28140	T	0.90091	0.76886	D	0.069902115	0.15352	0.07861754	0.17625	0.069902115	0.15352	0.07861754	0.17625	-4.745	0.33944	T	.	.	0.105	0.25785	B	.;.;.	.;.;.	2.127845	0.27087	17.34	0.98063972763152307	0.37968	0.08609	0.14514	N	AEFDBCI	0.171842	0.29884	N	-0.812018462998977	0.13002	0.6375901	-0.860518301309743	0.13034	0.6739785	0.999999634200481	0.74766	0.72623	0.87236	0	0.694456	0.67091	0	0.594344	0.31042	0	0.699875	0.68795	0	.	.	4.09	2.06	0.25932	1.812000	0.38590	1.912000	0.29653	0.675000	0.71128	0.011000	0.18532	0.120000	0.22892	0.130000	0.19568	0.2077:0.0:0.5984:0.1939	3.715	0.07964	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2539.98	33	chr16	716974	.	G	A	2539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.184;DP=898;ExcessHet=0.0000;FS=3.037;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.93;ReadPosRankSum=0.599;SOR=0.484	GT:AD:DP:GQ:PL	0/1:55,95:150:99:2554,0,1241	20	0	1	0
chr16	1367824	1367824	A	C	exonic	UNKL	.	nonsynonymous SNV	UNKL:NM_001193389:exon4:c.T117G:p.F39L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.997	D	.	.	1.000	D	2.515	M	-0.22	T	-0.287	T	0.425	T	0.624	4.663	25.7	-2.49	-0.572	0.336	10.331	0.310	0.164488103893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.91255	T	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	0.998769	0.45406	D	.	.	.	-0.23	0.66652	T	-4.07	0.89534	D	0.501	0.53620	-0.2873	0.75340	T	0.425	0.76910	T	9	0.35302576	0.52118	T	0.164488	0.84358	D	0.310	0.63162	0.232	0.16005	0.250579442822	0.24687	.	.	0.35949799997	0.37640	0.855580925941	0.90454	D	0.172725	0.52133	T	0.073117	0.61225	D	-0.132749	0.60741	T	0.987381994724274	0.77891	D	0.953605	0.85587	D	.	.	.	.	.	.	.	.	-7.296	0.56167	T	.	.	0.973	0.92114	P	.;.;.;.;.;.	.;.;.;.;.;.	3.141921	0.42498	21.5	0.99725509566138715	0.82336	0.68956	0.33999	D	AEFDBHCI	0.364989	0.45333	N	0.147240433242267	0.48681	3.07745	-0.00505165804969017	0.39487	2.341984	0.996710019658257	0.34950	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.96	-2.49	0.06034	0.880000	0.27798	-0.165000	0.11284	0.754000	0.88378	1.000000	0.71638	0.005000	0.19230	0.999000	0.91618	0.4987:0.0:0.5013:0.0	10.331	0.43003	846	0.36215	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1015.98	36	chr16	1367824	.	A	C	1015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=823;ExcessHet=0.0000;FS=1.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.219;SOR=0.936	GT:AD:DP:GQ:PL	0/1:44,38:82:99:1030,0,1251	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	0/1:43,36,0:79:99:.:.:1086,0,1435,1215,1552,2767	1	6	3	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	1/2:0,36,17:53:99:1811,678,1301,1135,0,1109	8	6	2	4
chr16	1397281	1397281	-	GGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	exonic	UNKL	.	frameshift insertion	UNKL:NM_001193388:exon6:c.748_749insACAGCGTGAAGCACGGGGGTGGTGGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCC:p.P250Hfs*36	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0036	0	0	0	0.0123	0	0	.	.	.	.	0.0072	0.0076	0.0067	0.0078	0.0160	0.0071	0.0070	0.0121	0.0108	0.0013	0.0130	0.0177	4.298e-05	0.0111	0.0160	0.0069	0.0118	0.0097	0.0064	0.0087	0.0069	0.0058	0.0114	0.0059	0.0058	0.0105	0.0101	0.0016	0.0156	0.0080	0.0172	0	0.0022	0.0061	0.0114	0.0040	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	1/2:0,36,17:53:99:1811,678,1301,1135,0,1109	8	6	2	4
chr16	1791558	1791558	G	A	exonic	IGFALS	.	nonsynonymous SNV	IGFALS:NM_001146006:exon2:c.C974T:p.P325L	Acid-labile subunit, deficiency of	.	.	.	.	.	.	.	.	.	.	703533	not_provided|not_specified|Short_stature_due_to_primary_acid-labile_subunit_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014420,MedGen:C3900122,OMIM:615961,Orphanet:140941	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.61	T	0.002	B	0.008	B	0.020	N	1.000	D	-0.205	N	1.92	T	-1.007	T	0.016	T	0.156	-1.394	0.024	4.21	2.462	4.344	4.142	0.084	0.0164065016574	0.0042	0.00279553	0.0051	0.0010	0.0062	0	0.0039	0.0089	0.0036	0.0004	0.0027361	423	154602	rs35706152	0.0059	0.0058	0.0060	0.0057	0.0070	0.0058	0.0057	0.0068	0.0068	0.0011	0.0041	3.931e-05	2.718e-05	0.0037	0.0002	0.0070	0.0049	0.0004	0.0042	0.0042	0.0046	0.0038	0.0069	0.0039	0.0038	0.0064	0.0062	0.0014	0	0.0046	0.0003	0	0.0031	0	0.0069	0.0043	0.0002	1.0	0.00964	T	0.653	0.06666	T	0.002	0.09854	B	0.008	0.13708	B	0.019837	0.27171	N	0.397979	0.995039	0.42516	D	-0.54	0.02511	N	1.92	0.23082	T	-0.27	0.11366	N	0.091	0.09349	-1.0069	0.27881	T	0.016	0.06521	T	10	0.009347528	0.00211	T	0.016407	0.37653	T	0.084	0.24469	.	.	0.628632071366	0.62559	0.24642960455124976	0.24556	0.0512782227325	0.05640	0.522785902023	0.42019	T	0.098532	0.40245	T	-0.557915	0.00261	T	-0.570178	0.15432	T	0.0128491033734068	0.00220	T	0.313569	0.06164	T	0.03951768	0.05473	0.050750796	0.08028	0.04320258	0.06692	0.051252533	0.08210	-3.021	0.11205	T	0.07250072454410691	0.02978	0.107	0.28057	B	.;.	.;.	2.720952	0.35591	19.94	0.69369190534290037	0.08950	0.67679	0.33520	D	AEFDBCI	0.314188	0.41912	N	-0.340715452556209	0.27615	1.516518	-0.117040289881953	0.34702	1.999207	0.999989408807702	0.51787	0.514905	0.20481	0	0.379588	0.06130	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	5.26	4.21	0.48984	4.374000	0.59312	8.397000	0.77098	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.645000	0.32557	0.3111:0.0:0.6889:0.0	4.142	0.09665	565	0.70868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1007.98	34	chr16	1791558	.	G	A	1007.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=982;ExcessHet=0.0000;FS=1.790;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=1.48;SOR=0.601	GT:AD:DP:GQ:PL	0/1:46,37:83:99:1022,0,1278	20	0	1	0
chr16	2090293	2090293	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon45:c.G12433A:p.V4145I	Polycystic kidney disease, adult type I, Autosomal dominant	.	0	1451	67	4	0	75	0.0251931	.	.	255509	Polycystic_kidney_disease,_adult_type|not_provided|Polycystic_kidney_disease|not_specified	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.987	D	0.879	P	0.075	N	0.965	N	2.14	M	1.31	T	-0.910	T	0.144	T	0.091	3.922	19.95	4.02	2.050	2.055	16.309	0.072	0.0451531310905	0.0032	0.00339457	0.0048	0.0005	0.0035	0.0001	0.0056	0.0053	0.0080	0.0088	0.0044049	681	154602	rs148478410	0.0038	0.0038	0.0036	0.0041	0.0175	0.0038	0.0037	0.0148	0.0137	0.0007	0.0028	0.0022	0	0.0053	0.0175	0.0036	0.0045	0.0083	0.0033	0.0033	0.0037	0.0029	0.0064	0.0031	0.0030	0.0050	0.0048	0.0006	0	0.0016	0.0020	0.0004	0.0022	0	0.0055	0.0066	0.0064	0.163	0.23541	T	0.034	0.52727	D	0.972	0.61912	D	0.633	0.62418	P	0.075110	0.21243	N	0.475314	0.965042	0.25955	N	2.6	0.76081	M	1.31	0.35405	T	-0.76	0.21215	N	0.806	0.80180	-0.9105	0.46793	T	0.144	0.46587	T	10	0.010210127	0.00228	T	0.045153	0.61843	D	0.072	0.21020	.	.	0.783245712702	0.78124	0.2612534345992779	0.26038	.	.	0.55258089304	0.46222	T	0.239847	0.60805	T	-0.541596	0.00328	T	-0.544627	0.17844	T	0.0181758844097079	0.00538	T	0.836316	0.50742	T	0.2944897	0.52406	0.09615326	0.22835	0.29896998	0.52812	0.08810598	0.20521	-5.215	0.39094	T	0.5661712876178673	0.63361	0.221	0.45199	B	.;.	.;.	3.833642	0.55435	23.6	0.99708122681245359	0.81143	0.84668	0.43753	D	AEFDBCI	0.397753	0.47370	N	0.423190931841611	0.62700	4.490252	0.380317644411658	0.60350	4.221811	0.999999840776265	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.562822	0.20929	0	.	.	4.02	4.02	0.45968	2.770000	0.47346	7.502000	0.59501	0.465000	0.21702	0.997000	0.40164	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.309	0.82694	774	0.48577	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6231.68	37	chr16	2090293	.	C	T	6231.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.880e-01;DP=1579;ExcessHet=0.3300;FS=1.097;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=-9.300e-02;SOR=0.771	GT:AD:DP:GQ:PL	0/1:96,93:189:99:2224,0,2339	18	0	3	0
chr16	3484831	3484831	C	G	exonic	NAA60	.	nonsynonymous SNV	NAA60:NM_001317096:exon5:c.C478G:p.H160D	.	.	415	1056	47	4	0	55	0.0253807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.703	T	0.178	T	.	3.905	19.86	3.79	1.482	2.935	5.546	0.232	.	0.0061	0.00519169	0.0140	0.0024	0.0087	0	0.0227	0.0175	0.0087	0.0133	0.0058537	905	154602	rs17793994	0.0087	0.0087	0.0085	0.0090	0.0111	0.0086	0.0086	0.0105	0.0103	0.0014	0.0038	0.0118	5.464e-05	0.0095	0.0103	0.0091	0.0083	0.0111	0.0072	0.0072	0.0067	0.0077	0.0135	0.0068	0.0067	0.0108	0.0099	0.0017	0.0143	0.0035	0.0084	0.0006	0.0119	0	0.0106	0.0071	0.0135	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-2.4	0.52776	N	0.441	0.47949	-0.7027	0.60309	T	0.178	0.52381	T	5	0.0051259995	0.00111	T	.	.	.	0.232	0.53354	.	.	0.082315109003	0.07666	.	.	.	.	.	.	.	.	.	.	-0.481957	0.00720	T	-0.454687	0.27180	T	0.0682118217340819	0.08399	T	0.30127	0.05674	T	.	.	.	.	.	.	.	.	-3.817	0.21059	T	.	.	0.156	0.34602	B	.	.	1.187958	0.15789	12.10	0.99286555919033248	0.58113	0.91750	0.54184	D	AEFBCI	0.375027	0.45971	N	0.254229443074431	0.53848	3.552079	0.312216166203192	0.56258	3.78877	0.866369319914896	0.25327	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	3.79	0.42757	3.250000	0.51146	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1447:0.6403:0.1399:0.0751	5.546	0.16353	630	0.65016	.	DNASE1	Brain_Cerebellum	.	.	.	Uncertain significance	0	0	0	0	0	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	2904.11	42	chr16	3484831	.	C	G	2904.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.180e-01;DP=909;ExcessHet=0.1072;FS=1.018;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-2.180e-01;SOR=0.772	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1379,0,1383	19	0	2	0
chr16	3781229	3781229	G	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon6:c.C1537A:p.L513I	Rubinstein-Taybi syndrome 1, Autosomal dominant	YES	1	1445	71	5	0	81	0.0272635	.	.	100926	Inborn_genetic_diseases|not_specified|Rubinstein-Taybi_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.604	P	0.369	B	0.000	D	1.000	D	1.28	L	-1.75	D	-0.226	T	0.400	T	0.54	2.237	13.44	5.49	2.578	5.707	19.361	0.382	.	0.0087	0.00638978	0.0100	0.0019	0.0047	0.0178	0.0021	0.0117	0.0188	0.0106	0.009366	1448	154602	rs61753381	0.0099	0.0100	0.0097	0.0102	0.0370	0.0098	0.0098	0.0329	0.0313	0.0019	0.0055	0.0583	0.0236	0.0019	0.0370	0.0087	0.0137	0.0113	0.0076	0.0076	0.0077	0.0076	0.0129	0.0073	0.0071	0.0104	0.0095	0.0017	0	0.0086	0.0617	0.0129	0.0012	0.0340	0.0084	0.0128	0.0114	0.052	0.39575	T	0.302	0.21144	T	0.604	0.39417	P	0.369	0.43514	B	0.000003	0.62929	D	0.000000	0.99998	0.54805	D	1.225	0.30651	L	-1.75	0.83578	D	-1.15	0.30140	N	0.233	0.26233	-0.2255	0.77006	T	0.400	0.75166	T	10	0.007070422	0.00161	T	.	.	.	0.382	0.69946	.	.	.	.	0.19137380748694238	0.19055	1.331011174	0.83652	0.601731181145	0.53148	T	0.473339	0.80524	T	-0.233667	0.16167	T	-0.0947976	0.63798	T	0.0174632381218672	0.00482	T	0.791621	0.43272	T	0.20917833	0.43177	0.17703225	0.40277	0.20866819	0.43111	0.17703225	0.40276	-4.376	0.29230	T	0.2561851620090893	0.34633	0.087	0.15206	B	.;.;.	.;.;.	4.105940	0.61261	24.3	0.93890401688013392	0.23914	0.96778	0.70889	D	AEFBI	0.617639	0.60374	D	0.271685724131068	0.54720	3.636797	0.373597985528741	0.59941	4.176549	0.999998223959344	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.49	5.49	0.81022	5.816000	0.68900	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	19.361	0.94429	580	0.69689	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.119	9875.44	33	chr16	3781229	.	G	T	9875.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-6.200e-01;DP=1574;ExcessHet=1.1607;FS=1.168;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=0.238;SOR=0.839	GT:AD:DP:GQ:PL	0/1:102,87:189:99:2123,0,2505	16	0	5	0
chr16	4364800	4364800	G	A	exonic	CORO7;CORO7-PAM16	.	nonsynonymous SNV	CORO7:NM_001201473:exon10:c.C764T:p.P255L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.279	N	1.000	D	3.245	M	1.32	T	-0.672	T	0.376	T	0.836	5.161	32	5.31	2.481	9.413	18.573	0.478	0.1117313811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.278727	0.03819	N	1.604400	1	0.81001	D	3.665	0.94315	H	1.32	0.35219	T	-9.52	0.98467	D	0.842	0.92200	-0.6720	0.61738	T	0.376	0.73416	T	10	0.95622563	0.94987	D	0.111731	0.78962	D	0.478	0.76946	0.829	0.93915	0.715788697665	0.71329	0.7381200659588484	0.73757	0.490814274517	0.47791	0.594163775444	0.52081	T	0.15677	0.49908	T	0.231887	0.76899	D	0.0953125	0.76598	D	0.999720990657806	0.98678	D	.	.	.	0.12260932	0.28809	0.14834444	0.35071	0.12260932	0.28808	0.14834444	0.35070	-10.464	0.76640	D	.	.	0.331	0.59319	B	.;.;.;.;.	.;.;.;.;.	4.179717	0.62914	24.5	0.99913068335945643	0.98167	0.99557	0.97415	D	AEFBI	0.963580	0.98551	D	0.897357783830888	0.91629	10.98143	0.827238490703855	0.91618	10.97983	0.999999999985666	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	9.544000	0.97191	11.683000	0.94248	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.720000	0.34772	0.0:0.0:1.0:0.0	18.573	0.91097	803	0.44167	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1958.98	74	chr16	4364800	.	G	A	1958.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=1721;ExcessHet=0.0000;FS=2.147;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-1.101e+00;SOR=0.518	GT:AD:DP:GQ:PL	0/1:67,73:140:99:1973,0,1584	20	0	1	0
chr16	4506948	4506948	G	A	exonic	HMOX2	.	nonsynonymous SNV	HMOX2:NM_001286271:exon2:c.G53A:p.R18Q	.	.	420	1101	1	0	0	1	0.000453926	.	.	2455414	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.66	T	0.138	B	0.033	B	0.007	N	0.997	D	0.8	N	1.97	T	-1.011	T	0.027	T	0.135	2.089	12.94	-0.033	-0.123	0.588	9.693	0.017	0.0069891893718	.	.	2.471e-05	0	0	0	0	2.997e-05	0	6.056e-05	1.94e-05	3	154602	rs150902900	1.573e-05	1.573e-05	1.225e-05	1.925e-05	8.961e-05	1.048e-05	8.75e-06	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0	1.529e-05	0	3.478e-05	2.63e-05	2.627e-05	5.14e-05	0	4.828e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	2.94e-05	0	0	0.671	0.04548	T	0.421	0.19845	T	0.138	0.27452	B	0.033	0.22329	B	0.006916	0.31720	N	0.384614	0.996897	0.43488	D	0.785	0.19527	N	1.97	0.22067	T	-0.22	0.10480	N	0.076	0.05287	-1.0109	0.26635	T	0.027	0.11485	T	10	0.113119304	0.21241	T	0.006989	0.18513	T	0.017	0.02790	0.431	0.48007	0.156986980423	0.15292	0.41470617859219433	0.41386	0.138923697287	0.15665	0.254099100828	0.04212	T	0.161155	0.50530	T	-0.457033	0.01025	T	-0.614838	0.11596	T	0.0418931984991608	0.04035	T	0.90041	0.65400	D	0.109844655	0.25967	0.09403748	0.22242	0.109844655	0.25966	0.09403748	0.22241	-5.215	0.39094	T	.	.	0.106	0.19839	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.330711	0.29859	18.26	0.95846982066487951	0.27981	0.69309	0.34137	D	AEFBCI	0.364651	0.45311	N	-0.739718338842561	0.14913	0.7470584	-0.603618262624662	0.19400	1.040658	0.999461080686817	0.39843	0.722319	0.85440	0	0.698795	0.70079	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	5.54	-0.0325	0.13232	0.886000	0.27878	4.588000	0.43946	-0.244000	0.07312	0.997000	0.40164	1.000000	0.68203	0.945000	0.48827	0.3673:0.0:0.6327:0.0	9.693	0.39304	506	0.75555	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1676.98	33	chr16	4506948	.	G	A	1676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.36;DP=837;ExcessHet=0.0000;FS=3.054;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-4.930e-01;SOR=0.480	GT:AD:DP:GQ:PL	0/1:71,66:137:99:1691,0,1625	20	0	1	0
chr16	9938544	9938544	G	A	exonic	GRIN2A	.	nonsynonymous SNV	GRIN2A:NM_001134407:exon3:c.C422T:p.T141M	Epilepsy, focal, with speech disorder and with or without mental retardation, Autosomal dominant	.	1	1518	2	0	1	3	0.000658328	.	.	203374	not_specified|GRIN2A-related_disorder|Landau-Kleffner_syndrome|Inborn_genetic_diseases|not_provided	MedGen:CN169374|.|MONDO:MONDO:0009509,MedGen:C0282512,OMIM:245570,Orphanet:1945,Orphanet:725,Orphanet:98818|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.016	B	0.017	B	0.001	N	1.000	D	-1.61	N	-1.6	D	-1.004	T	0.136	T	0.139	1.340	10.40	1.61	0.664	2.895	5.933	0.185	0.231731407444	0.0011	0.000599042	0.0011	0.0001	0.0007	0	0	0.0015	0	0.0012	0.0010737	166	154602	rs78631453	0.0016	0.0016	0.0015	0.0016	0.0018	0.0015	0.0015	0.0017	0.0017	0.0002	0.0006	0.0037	0	0.0003	0.0005	0.0018	0.0011	0.0012	0.0009	0.0009	0.0010	0.0009	0.0016	0.0008	0.0008	0.0013	0.0013	0.0002	0	0.0001	0.0040	0	0.0003	0	0.0016	0	0.0012	0.206	0.21066	T	0.289	0.31427	T	0.016	0.17332	B	0.01	0.14941	B	0.000831	0.41547	N	0.287086	1	0.81001	D	-1.04	0.01097	N	-1.6	0.82165	D	-0.87	0.23590	N	0.234	0.26354	-1.0037	0.28844	T	0.136	0.45126	T	9	0.008182764	0.00186	T	0.231731	0.88289	D	0.185	0.45933	.	.	0.642405806142	0.63945	0.605003862362036	0.60431	0.645072804293	0.57977	0.262629628181	0.05207	T	0.311047	0.68296	T	-0.423554	0.01624	T	-0.383604	0.35300	T	0.00499161585346308	0.00054	T	0.821218	0.52437	T	0.03151473	0.03006	0.045313235	0.06070	0.035295565	0.04125	0.042294063	0.05003	-4.741	0.33896	T	0.13974314826536385	0.15579	0.082	0.09578	B	.;.;.;.;.	.;.;.;.;.	2.228278	0.28446	17.80	0.86104735373430785	0.16316	0.76323	0.37423	D	AEFBI	0.163829	0.29015	N	-0.751373177058921	0.14596	0.7284039	-0.564894706465161	0.20410	1.099559	2.37517155559102E-5	0.03498	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.48	1.61	0.22752	2.869000	0.48142	4.422000	0.43319	-0.113000	0.14837	0.991000	0.37257	1.000000	0.68203	0.850000	0.40195	0.5279:0.0:0.4721:0.0	5.933	0.18388	868	0.31772	Receptor, ligand binding region;Receptor, ligand binding region;.;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	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	686.98	33	chr16	9938544	.	G	A	686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.977;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=1.82;SOR=0.551	GT:AD:DP:GQ:PL	0/1:22,23:45:99:701,0,647	20	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	95489.43	192	chr16	11927475	.	G	A,*	95489.43	.	AC=30,4;AF=0.714,0.095;AN=42;BaseQRankSum=1.26;DP=4093;ExcessHet=0.0303;FS=0.000;InbreedingCoeff=0.3824;MLEAC=30,4;MLEAF=0.714,0.095;MQ=59.99;MQRankSum=0.00;QD=24.53;ReadPosRankSum=0.415;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,211,0:211:99:.:.:6596,632,0,6596,632,6596	2	11	4	0
chr16	12051951	12051951	A	T	exonic	SNX29	.	nonsynonymous SNV	SNX29:NM_001376490:exon8:c.A853T:p.T285S	.	.	420	1093	9	0	0	9	0.00410023	.	.	2807650	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.56	T	.	.	.	.	0.823	N	1.000	D	0.895	L	.	.	-1.043	T	0.095	T	0.068	0.625	7.363	-0.571	-0.391	0.822	7.782	0.047	0.0155961869756	0.0025	0.00159744	0.0021	0.0007	0.0012	0	0.0006	0.0031	0	0.0013	0.0022121	342	154602	rs150300274	0.0036	0.0036	0.0036	0.0036	0.0069	0.0035	0.0035	0.0052	0.0046	0.0007	0.0021	3.827e-05	0	0.0003	0.0069	0.0043	0.0037	0.0012	0.0027	0.0027	0.0027	0.0026	0.0044	0.0024	0.0024	0.0040	0.0038	0.0007	0	0.0039	0	0	9.439e-05	0	0.0044	0.0048	0.0010	0.561	0.06361	T	0.663	0.06448	T	.	.	.	.	.	.	0.822657	0.09166	N	0.916732	0.999995	0.08975	N	.	.	.	0.9	0.45248	T	-0.58	0.17417	N	0.123	0.11483	-1.0427	0.16503	T	0.095	0.35818	T	7	0.004095137	0.00080	T	0.015596	0.36422	T	.	.	.	.	0.148003135375	0.14442	0.13629651383783775	0.13553	.	.	0.341780364513	0.16705	T	0.014162	0.12111	T	-0.626108	0.00101	T	-0.671733	0.07498	T	0.0039223764210912	0.00042	T	0.521748	0.17009	T	0.021301692	0.00725	0.022389593	0.00264	0.021301692	0.00725	0.022389593	0.00264	-2.559	0.06198	T	.	.	0.078	0.06990	B	.	.	0.384214	0.07562	4.214	0.69453264909579915	0.08977	0.24477	0.22406	N	AEFBI	0.047925	0.08123	N	-0.840952613823748	0.12273	0.5972382	-0.910882368747541	0.11837	0.6054806	0.00154831679957211	0.08631	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.91	-0.571	0.11161	1.695000	0.37381	1.784000	0.28742	-0.140000	0.12423	0.505000	0.26994	0.489000	0.25143	0.276000	0.23917	0.3717:0.4927:0.1356:0.0	7.782	0.28235	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	1489.99	34	chr16	12051951	.	A	T	1489.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.179e+00;DP=815;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=59.77;MQRankSum=1.05;QD=12.21;ReadPosRankSum=-4.740e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/1:59,63:122:99:1504,0,1491	20	0	1	0
chr16	12705045	12705045	C	A	exonic	CPPED1	.	nonsynonymous SNV	CPPED1:NM_018340:exon3:c.G294T:p.K98N,	.	.	428	1078	15	1	0	17	0.00782329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.002	B	0.026	B	0.053	N	1.000	N	-0.125	N	-0.34	T	-1.014	T	0.073	T	0.057	-0.504	1.690	-6.0	-0.793	-0.379	0.392	0.054	0.0127190188886	0.0015	0.000399361	0.0016	0.0003	0.0009	0	0	0.0015	0.0048	0.0056	0.00152	235	154602	rs202086201	0.0019	0.0019	0.0017	0.0020	0.0049	0.0018	0.0018	0.0046	0.0044	0.0003	0.0007	0.0040	2.53e-05	7.536e-05	0.0039	0.0018	0.0018	0.0049	0.0010	0.0010	0.0011	0.0010	0.0048	0.0009	0.0009	0.0033	0.0028	0.0001	0	0.0008	0.0032	0	0	0	0.0015	0.0024	0.0048	0.5	0.07746	T	0.459	0.12632	T	0.002	0.09854	B	0.026	0.20792	B	0.052743	0.22868	N	0.525817	1	0.08975	N	0.345	0.11182	N	-0.34	0.68474	T	0.21	0.04776	N	0.21	0.23380	-1.0138	0.25720	T	0.073	0.29419	T	10	0.007684499	0.00175	T	0.012719	0.31538	T	0.054	0.15330	0.339	0.32979	0.166414681773	0.16258	0.3220683058182097	0.32119	0.0593736532177	0.06593	0.248930960894	0.03655	T	0.053454	0.29448	T	-0.597813	0.00150	T	-0.631501	0.10301	T	0.00529313091275535	0.00057	T	0.672333	0.28093	T	0.058870483	0.11895	0.034599736	0.02555	0.058870483	0.11895	0.034599736	0.02555	-4.214	0.26954	T	.	.	0.168	0.37063	B	.	.	0.108745	0.05085	1.623	0.59658119888000238	0.06276	0.04133	0.09614	N	AEFBI	0.072485	0.14468	N	-1.48074510491322	0.01986	0.08722397	-1.50994360474112	0.02267	0.1040074	0.0115164754669255	0.12196	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	-6.0	0.02021	-0.836000	0.04489	-2.700000	0.03453	-0.207000	0.08511	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.2611:0.1658:0.1926:0.3804	0.392	0.00383	964	0.07719	Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1774.11	62	chr16	12705045	.	C	A	1774.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.26;DP=822;ExcessHet=0.1072;FS=2.525;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=0.106;SOR=0.480	GT:AD:DP:GQ:PL	0/1:34,37:71:99:999,0,974	19	0	2	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.275	M	1.91	T	-0.639	T	0.257	T	0.982	2.967	15.89	0.019	-0.196	0.232	11.520	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	4257.38	166	chr16	14582206	.	G	C	4257.38	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.582e+00;DP=3785;ExcessHet=43.6797;FS=424.104;InbreedingCoeff=-0.9074;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=1.10;SOR=14.488	GT:AD:DP:GQ:PL	0/1:93,66:159:99:296,0,1346	1	0	20	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1565.86	33	chr16	14667707	.	GCCCC	G	1565.86	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-5.750e-01;DP=1119;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=0.627;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,18:84:99:0|1:14667707_GCCCC_G:333,0,2528:14667707	13	0	8	0
chr16	14667711	14667711	-	GGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGG:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:66,0,0,18:84:99:0|1:14667707_GCCCC_G:333,530,3112,530,3112,3112,0,2582,2582,2528:14667707	12	0	6	1
chr16	14667711	14667711	-	GGGA	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGA:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:66,0,0,18:84:99:0|1:14667707_GCCCC_G:333,530,3112,530,3112,3112,0,2582,2582,2528:14667707	12	0	6	1
chr16	14667711	14667711	-	TGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insTGGG:p.I289Gfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:66,0,0,18:84:99:0|1:14667707_GCCCC_G:333,530,3112,530,3112,3112,0,2582,2582,2528:14667707	12	0	6	1
chr16	14725929	14725929	A	G	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.A689G:p.Y230C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.001	B	.	.	1.000	N	1.01	L	0.45	T	-0.998	T	0.096	T	0.079	-0.502	1.700	-1.15	-0.331	-0.476	.	0.083	0.00827337580303	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299805043	0.0005	0.0010	0.0006	0.0005	0.0009	0.0005	0.0004	0.0006	0.0005	8.699e-05	0.0009	0	0.0002	0.0044	0.0006	0.0002	0.0004	0.0001	0.0003	0.0004	0.0001	0.0004	0.0003	0.0002	0.0001	9.206e-05	5.54e-05	0	0	0	0	0	0.0038	0	0.0003	0.0024	0	0.074	0.34800	T	0.091	0.41239	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	0.45	0.56446	T	-5.15	0.83357	D	0.106	0.10056	-0.9979	0.30507	T	0.096	0.36185	T	8	0.15152997	0.28640	T	0.008273	0.21903	T	0.083	0.24192	0.755	0.88484	0.156986980423	0.15292	0.015506281202926301	0.01506	.	.	.	.	.	0.075955	0.35303	T	-0.291105	0.09525	T	-0.655928	0.08545	T	0.0918252496806488	0.11432	T	0.732627	0.34815	T	0.20463446	0.42580	0.2767948	0.53627	0.20463446	0.42580	0.2767948	0.53626	-3.251	0.13114	T	.	.	0.198	0.42067	B	.;.	.;.	0.143692	0.05369	1.853	0.27413583510277256	0.01360	0.00063	0.00458	N	AEFI	0.018832	0.00602	N	-1.19712075733494	0.05044	0.2290148	-1.34101504802424	0.03912	0.1834952	1.3741280706041E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	0.659	-1.15	0.09211	-1.081000	0.03514	-3.102000	0.03059	-0.277000	0.06564	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	670	0.60992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	95.47	5	chr16	14725929	.	A	G	95.47	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.69;DP=296;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0332;MLEAC=1;MLEAF=0.025;MQ=23.68;MQRankSum=0.086;QD=4.77;ReadPosRankSum=-3.300e-01;SOR=0.197	GT:AD:DP:GQ:PL	0/1:14,6:20:99:109,0,332	19	0	1	1
chr16	14726177	14726177	C	0	exonic	NPIPA2;NPIPA3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	723.05	7	chr16	14726177	.	C	T,*	723.05	.	AC=11,1;AF=0.306,0.028;AN=36;BaseQRankSum=-2.530e-01;DP=150;ExcessHet=1.2501;FS=3.780;InbreedingCoeff=-0.0715;MLEAC=12,1;MLEAF=0.333,0.028;MQ=24.72;MQRankSum=-5.240e-01;QD=10.96;ReadPosRankSum=0.036;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,3,0:4:19:.:.:67,0,19,70,28,99	8	2	7	3
chr16	15740124	15740124	G	A	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon23:c.C2924T:p.T975M	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	538093	Connective_tissue_disorder|Aortic_aneurysm,_familial_thoracic_4|MYH11-related_disorder|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Visceral_myopathy_2|Megacystis-microcolon-intestinal_hypoperistalsis_syndrome_2	MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900|.|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0859157,MedGen:C5543466,OMIM:619350|MONDO:MONDO:0025708,MedGen:C5543476,OMIM:619351	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.994	D	0.816	P	0.034	N	1.000	D	2.46	M	-0.76	T	0.195	D	0.527	D	0.569	3.822	19.41	4.28	1.952	7.680	15.751	0.544	0.34474033221	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs763795192	1.094e-05	1.094e-05	1.089e-05	1.1e-05	0.0002	6.48e-06	5.24e-06	9.89e-06	3.88e-06	5.974e-05	0	0	0	0	0.0002	9.892e-06	1.656e-05	1.159e-05	3.286e-05	3.284e-05	3.853e-05	2.691e-05	0.0002	1.261e-05	7.98e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.002	0.72154	D	0.004	0.74150	D	0.964	0.55854	D	0.77	0.56828	P	0.033733	0.24861	N	0.418766	0.999769	0.48888	D	2.845	0.82663	M	-0.76	0.73417	T	-3.52	0.68412	D	0.301	0.35620	0.195	0.85830	D	0.527	0.82389	D	10	0.43032354	0.57447	T	0.34474	0.92110	D	0.544	0.81018	0.326	0.30873	0.681506863636	0.67879	0.2754952731888177	0.27462	0.520677912175	0.49859	0.621449708939	0.55934	T	0.719614	0.92065	D	-0.0959989	0.37087	T	-0.0962371	0.63688	T	0.77514374256134	0.44751	D	0.90371	0.66210	D	0.17077819	0.37672	0.32076684	0.58029	0.17077819	0.37672	0.32076684	0.58029	-8.721	0.67626	D	.	.	0.170	0.46203	B	.;.;.;.	.;.;.;.	4.701753	0.75451	26.3	0.99821537402461513	0.90414	0.97738	0.76776	D	AEFDGBI	0.875514	0.79897	D	0.653418977002224	0.76593	6.514718	0.601055623922103	0.75017	6.236633	0.999551605264585	0.40362	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.28	4.28	0.50183	7.848000	0.85199	9.737000	0.81421	0.633000	0.51936	1.000000	0.71638	1.000000	0.68203	0.377000	0.26268	0.0:0.0:1.0:0.0	15.751	0.77750	341	0.85936	.;.;Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1372.98	34	chr16	15740124	.	G	A	1372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.956;DP=835;ExcessHet=0.0000;FS=2.264;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=1.57;SOR=0.483	GT:AD:DP:GQ:PL	0/1:70,59:129:99:1387,0,1650	20	0	1	0
chr16	21403839	21403839	C	A	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	828	692	1	1	0	3	0.00216294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	0.999	N	.	.	2.22	T	-1.016	T	0.028	T	0.157	0.229	5.234	.	-2.350	.	.	0.112	0.000905793106543	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368710597	0.0013	0.0031	0.0012	0.0014	0.0045	0.0011	0.0011	0.0023	0.0020	0.0045	0.0007	0	0.0003	0.0052	0	0.0011	0.0009	0.0029	0	0.0022	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	0.02778	54.55	2	chr16	21403839	.	C	A	54.55	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-9.670e-01;DP=139;ExcessHet=0.0000;FS=4.771;InbreedingCoeff=-0.0941;MLEAC=1;MLEAF=0.028;MQ=29.58;MQRankSum=-9.670e-01;QD=18.18;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:21403839_C_A:66,0,36:21403839	17	0	1	3
chr16	21403840	21403840	C	A	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	868	652	1	1	0	3	0.00229533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	1.000	N	.	.	2.14	T	-1.019	T	0.035	T	0.166	0.784	8.136	.	-1.969	.	.	0.087	0.000718651381275	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221343527	0.0029	0.0042	0.0026	0.0031	0.0092	0.0026	0.0025	0.0058	0.0049	0.0092	0.0017	0.0017	0.0013	0.0065	0	0.0024	0.0017	0.0062	0	0.0031	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	55.11	2	chr16	21403840	.	C	A	55.11	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-9.670e-01;DP=121;ExcessHet=0.0000;FS=4.771;InbreedingCoeff=-0.1185;MLEAC=1;MLEAF=0.029;MQ=29.58;MQRankSum=-9.670e-01;QD=18.37;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:21403839_C_A:66,0,36:21403839	16	0	1	4
chr16	21403841	21403841	C	T	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	887	633	1	1	0	3	0.00236407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305431311	0.0029	0.0040	0.0026	0.0031	0.0076	0.0026	0.0025	0.0061	0.0057	0.0076	0.0020	0.0018	0.0014	0.0050	0	0.0023	0.0014	0.0071	0	0.0033	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	0.02778	53.94	2	chr16	21403841	.	C	T	53.94	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-9.670e-01;DP=125;ExcessHet=0.0000;FS=4.771;InbreedingCoeff=-0.0805;MLEAC=1;MLEAF=0.028;MQ=29.58;MQRankSum=-9.670e-01;QD=17.98;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:21403839_C_A:66,0,36:21403839	17	0	1	3
chr16	21404236	21404236	C	-	splicing	NPIPB3	NM_130464:exon10:c.1691+1G>-;NM_130464:exon11:c.1692-1G>-	.	.	.	.	1479	15	0	28	0	56	0.651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	.	0.0004528	70	154602	rs767458164	0.3333	0.0001	1.0000	0	0.5000	0.0592	0.0248	0.0888	0.0371	.	0.5000	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	380.23	3	chr16	21404235	.	GC	G	380.23	.	AC=6;AF=1.00;AN=6;DP=44;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3927;MLEAC=16;MLEAF=1.00;MQ=25.55;QD=32.05;SOR=3.056	GT:AD:DP:GQ:PL	1/1:0,3:3:9:112,9,0	0	3	0	18
chr16	21799684	21799684	T	C	exonic	RRN3	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1414525159	6.059e-06	5.261e-06	0	1.13e-05	0.0005	1.61e-06	4.5e-07	1.14e-06	4.3e-07	0	0	0	0	0	0.0005	6.84e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	137.34	33	chr16	21799684	.	T	C	137.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.794;DP=508;ExcessHet=0.0000;FS=2.105;InbreedingCoeff=-0.0258;MLEAC=1;MLEAF=0.025;MQ=27.10;MQRankSum=0.315;QD=6.24;ReadPosRankSum=-1.939e+00;SOR=1.536	GT:AD:DP:GQ:PL	0/1:15,7:22:99:151,0,370	19	0	1	1
chr16	28101678	28101678	C	T	exonic	XPO6	.	nonsynonymous SNV	XPO6:NM_015171:exon23:c.G3056A:p.R1019Q	.	.	411	1104	7	0	0	7	0.00316027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.328	B	0.018	B	0.000	D	1.000	D	1.095	L	-0.25	T	-0.902	T	0.170	T	0.612	3.760	19.09	6.17	2.941	6.091	11.604	0.142	0.0143823584698	0.0011	0.000599042	0.0011	0.0003	8.851e-05	0	0.0009	0.0015	0.0011	0.0016	0.0011255	174	154602	rs199516479	0.0017	0.0017	0.0017	0.0017	0.0020	0.0017	0.0016	0.0019	0.0019	0.0003	0.0005	0.0005	0	0.0006	0.0012	0.0020	0.0013	0.0013	0.0012	0.0012	0.0013	0.0012	0.0019	0.0011	0.0010	0.0015	0.0015	0.0005	0	0.0015	0.0006	0	0.0008	0	0.0018	0.0009	0.0019	0.186	0.32769	T	0.177	0.36901	T	0.033	0.20350	B	0.003	0.08700	B	0.000001	0.84330	D	0.053468	0.999998	0.58761	D	1.085	0.27262	L	-0.25	0.67011	T	-0.88	0.42763	N	0.396	0.43803	-0.9017	0.47814	T	0.170	0.51117	T	10	0.021247	0.00505	T	0.014382	0.34458	T	0.142	0.37995	.	.	0.305926609036	0.30200	0.4647590414621886	0.46394	0.751286644975	0.63797	0.608377575874	0.54086	T	0.064225	0.32380	T	-0.281019	0.10559	T	-0.183705	0.56177	T	0.0153889840809345	0.00344	T	0.938406	0.76842	D	0.11208949	0.26482	0.09186103	0.21618	0.11208949	0.26482	0.09186103	0.21617	-8.073	0.61615	D	.	.	0.106	0.41648	B	.;.;.;.	.;.;.;.	4.600384	0.72850	25.9	0.9985013532028495	0.92925	0.93986	0.59770	D	AEFDGBCI	0.801025	0.72685	D	0.15204112574382	0.48909	3.097413	0.361641968123802	0.59211	4.097181	0.999999999160783	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	6.171000	0.71829	5.965000	0.51894	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.9203:0.0:0.0797	11.604	0.50275	559	0.71409	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	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	1057.98	34	chr16	28101678	.	C	T	1057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.52;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.53;ReadPosRankSum=-1.700e+00;SOR=0.784	GT:AD:DP:GQ:PL	0/1:31,33:64:99:1072,0,748	20	0	1	0
chr16	28342966	28342966	-	GACAA	exonic	NPIPB6	.	frameshift insertion	NPIPB6:NM_001282524:exon7:c.918_919insTTGTC:p.P307Lfs*17,	.	.	436	1078	2	0	6	8	0.000926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0.0006	0	0	0.0008	0	0	7.68e-05	2	26028	.	0.0069	0.0080	0.0072	0.0066	0.0079	0.0068	0.0068	0.0078	0.0077	0.0018	0.0027	0.0027	0.0004	0.0120	0.0013	0.0079	0.0047	0.0013	0.0005	0.0006	0.0005	0.0006	0.0008	0.0004	0.0004	0.0006	0.0006	7.528e-05	0.0011	0.0004	0.0006	0	0.0012	0	0.0008	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	294.94	33	chr16	28342966	.	G	GGACAA	294.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.702e+00;DP=2064;ExcessHet=0.0000;FS=1.960;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=45.48;MQRankSum=1.61;QD=9.22;ReadPosRankSum=-3.600e+00;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,22:32:99:0|1:28342964_A_C:309,0,379:28342964	20	0	1	0
chr16	28757997	28757997	G	T	splicing	NPIPB9	NM_001287251:exon2:c.26-1G>T	.	.	.	.	583	908	26	5	0	36	0.0194384	0	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-1.035	0.213	.	-1.841	-1.790	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1393415693	0.0001	0.0022	9.244e-05	0.0001	0.0004	9.893e-05	9.081e-05	0.0002	0.0002	0	0.0004	0	3.105e-05	6.442e-05	0	0.0001	6.419e-05	0.0001	8.338e-05	0.0006	8.112e-05	8.578e-05	0.0003	4.507e-05	3.364e-05	6.364e-05	4.536e-05	5.428e-05	0	0	0	0	0	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19599	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562717	0.00244	T	-1.04608	0.00070	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.242196	0.02882	0.411	0.277422824348112	0.01392	0.00027	0.00265	N	AEFI	.	.	.	-0.681580609389436	0.16547	0.8440145	-1.15648077630497	0.06652	0.3209219	9.63470082261451E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0932018	0.20989	.	.	.	-1.695000	0.02014	-7.369000	0.01171	-2.070000	0.00409	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	649	0.63102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	71.11	34	chr16	28757997	.	G	T	71.11	.	AC=2;AF=0.053;AN=38;DP=631;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8829;MLEAC=1;MLEAF=0.026;MQ=40.00;QD=29.43;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:28757992_CA_C:90,6,0:28757992	18	1	0	2
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|1:163,45,0:208:99:0|1:29485610_ACACACTC_A:485,0,5928,978,6039,7017:29485610	7	0	12	0
chr16	30369938	30369938	-	GGGGCT	exonic	TBC1D10B	.	nonframeshift insertion	TBC1D10B:NM_015527:exon1:c.245_246insAGCCCC:p.A83_V84insPA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1281544370	1.597e-05	1.73e-05	1.975e-05	1.182e-05	0.0013	9.73e-06	7.95e-06	0.0005	0.0003	0	0	6.538e-05	0	0	0.0013	9.023e-06	4.522e-05	3.011e-05	2.076e-05	2.073e-05	1.352e-05	2.836e-05	0.0002	5.52e-06	2.53e-06	.	.	0	0	6.688e-05	0	0	0	0	1.574e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	213.03	31	chr16	30369938	.	C	CGGGGCT,*	213.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.53;DP=542;ExcessHet=0.1072;FS=1.550;InbreedingCoeff=-0.0503;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=7.35;ReadPosRankSum=2.10;SOR=1.215	GT:AD:DP:GQ:PL	0/2:7,0,8:15:99:316,337,623,0,285,260	19	0	1	0
chr16	30369938	30369938	C	0	exonic	TBC1D10B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	213.03	31	chr16	30369938	.	C	CGGGGCT,*	213.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.53;DP=542;ExcessHet=0.1072;FS=1.550;InbreedingCoeff=-0.0503;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=7.35;ReadPosRankSum=2.10;SOR=1.215	GT:AD:DP:GQ:PL	0/2:7,0,8:15:99:316,337,623,0,285,260	19	0	1	0
chr16	48096861	48096861	A	-	exonic	ABCC12	.	frameshift deletion	ABCC12:NM_033226:exon22:c.3080delT:p.L1027Rfs*7,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0007	0	8.663e-05	0.0086	0	0.0001	0.0011	0.0001	0.000608	94	154602	rs544586060	0.0003	0.0003	0.0003	0.0003	0.0097	0.0003	0.0003	0.0089	0.0086	0	2.236e-05	0.0008	0.0097	1.872e-05	0	4.496e-05	0.0003	0.0001	0.0003	0.0003	0.0003	0.0004	0.0081	0.0002	0.0002	0.0062	0.0055	0	0	0	0.0012	0.0081	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2578.94	34	chr16	48096860	.	CA	C	2578.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.314e+00;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.23;ReadPosRankSum=-6.710e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/1:38,73:111:99:2593,0,1201	20	0	1	0
chr16	57025490	57025490	C	T	exonic	NLRC5	.	nonsynonymous SNV	NLRC5:NM_001330552:exon6:c.C547T:p.R183W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.997	D	0.821	P	0.008	N	0.999	N	2.015	M	-0.67	T	-0.599	T	0.418	T	0.533	2.629	14.75	1.86	1.202	-0.043	8.625	0.383	0.0862862387736	.	.	2.516e-05	0	0	0.0002	0	1.514e-05	0	0	1.94e-05	3	154602	rs750291867	8.897e-06	8.893e-06	8.171e-06	9.631e-06	1.161e-05	4.97e-06	3.83e-06	3.1e-06	2.24e-06	0	0	0.0001	0	0	0	7.197e-06	1.657e-05	1.161e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	6.825e-05	2.856e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0	0.062	0.37536	T	0.082	0.41573	T	0.997	0.70673	D	0.821	0.59116	P	0.007881	0.31148	N	0.000000	0.998576	0.22064	N	2.19	0.61577	M	-0.67	0.74477	T	-0.1	0.08495	N	0.217	0.26354	-0.5987	0.64871	T	0.418	0.76401	T	10	0.24472359	0.41708	T	0.086286	0.74706	D	0.383	0.70029	0.551	0.66716	0.549714264244	0.54628	0.27681251394833656	0.27594	0.269377542869	0.29453	0.339226126671	0.16322	T	0.080569	0.36394	T	-0.170409	0.25171	T	-0.256855	0.49138	T	0.641328871250153	0.38093	D	0.784022	0.42156	T	0.058168888	0.11671	0.03753494	0.03425	0.058168888	0.11670	0.03753494	0.03425	-5.101	0.37918	T	.	.	0.130	0.36053	B	.;.;.	.;.;.	4.023658	0.59445	24.1	0.99898717429402517	0.97124	0.39998	0.26338	N	AEFBCI	0.349811	0.44347	N	0.0341195464698621	0.43413	2.634727	-0.097763099291533	0.35483	2.053376	0.993522611969281	0.33249	0.615465	0.37627	0	0.577304	0.33150	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.28	1.86	0.24489	-0.079000	0.11321	-0.146000	0.11468	-0.176000	0.10722	0.087000	0.22510	0.031000	0.21272	0.012000	0.09680	0.2612:0.6163:0.1224:0.0	8.625	0.33043	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1541.98	34	chr16	57025490	.	C	T	1541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=819;ExcessHet=0.0000;FS=0.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=-8.800e-02;SOR=0.871	GT:AD:DP:GQ:PL	0/1:36,59:95:99:1556,0,683	20	0	1	0
chr16	67188925	67188925	A	T	exonic	EXOC3L1	.	nonsynonymous SNV	EXOC3L1:NM_178516:exon4:c.T223A:p.Y75N,	.	.	419	1102	1	0	0	1	0.000453515	.	.	2808027	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.997	D	0.000	D	1.000	D	2.3	M	3.02	T	-1.066	T	0.087	T	0.817	3.771	19.15	5.85	2.233	5.995	15.065	0.295	.	0.0051	0.00219649	0.0070	0.0006	0.0021	0	0.0281	0.0087	0.0126	0.0023	0.0064165	992	154602	rs117403380	0.0070	0.0070	0.0069	0.0071	0.0071	0.0069	0.0068	0.0070	0.0069	0.0010	0.0030	0.0016	5.038e-05	0.0297	0.0007	0.0071	0.0054	0.0024	0.0068	0.0068	0.0060	0.0077	0.0087	0.0065	0.0063	0.0081	0.0079	0.0006	0.0022	0.0053	0.0017	0	0.0281	0.0102	0.0087	0.0080	0.0033	0.088	0.34095	T	0.0	0.92824	D	1.0	0.90584	D	0.994	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.945	0.84822	M	3.02	0.16089	T	-1.73	0.45769	N	0.851	0.84713	-1.0661	0.10293	T	0.087	0.33774	T	10	0.009964436	0.00223	T	.	.	.	0.295	0.61502	.	.	0.70904498819	0.70650	0.5359754917450498	0.53522	0.395847736703	0.40711	0.724603116512	0.70718	T	0.089854	0.38462	T	-0.26484	0.12338	T	-0.145952	0.59600	T	0.0476183086248913	0.05076	T	0.864914	0.75597	D	0.24159034	0.47076	0.18777151	0.42028	0.24159034	0.47076	0.18777151	0.42027	-9.564	0.71257	D	.	.	0.472	0.70540	A	.;.;.;.	.;.;.;.	4.476800	0.69809	25.4	0.97721304573646861	0.35561	0.98969	0.89329	D	AEFBI	0.910607	0.86873	D	0.731966278753647	0.81729	7.59064	0.721110749455357	0.83984	8.166763	0.999999999390469	0.74766	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.85	5.85	0.93663	4.029000	0.56964	5.425000	0.48576	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.065	0.71656	41	0.97903	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1491.98	35	chr16	67188925	.	A	T	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.431;DP=862;ExcessHet=0.0000;FS=1.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.83;ReadPosRankSum=0.565;SOR=0.857	GT:AD:DP:GQ:PL	0/1:98,71:169:99:1506,0,2241	20	0	1	0
chr16	67189100	67189100	G	A	exonic	EXOC3L1	.	nonsynonymous SNV	EXOC3L1:NM_178516:exon3:c.C127T:p.R43W,	.	.	422	1089	11	0	0	11	0.00502513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.949	D	0.000	D	1.000	D	2.36	M	2.39	T	-0.631	T	0.209	T	0.652	4.406	23.4	3.18	1.190	1.872	13.336	0.261	.	0.0010	0.00179712	0.0026	0.0001	0.0004	0	0.0002	0.0017	0.0045	0.0104	0.0019663	304	154602	rs138207138	0.0017	0.0017	0.0014	0.0020	0.0095	0.0016	0.0016	0.0090	0.0088	0.0003	0.0004	0.0007	5.052e-05	0.0001	0.0045	0.0013	0.0017	0.0095	0.0014	0.0014	0.0012	0.0015	0.0116	0.0012	0.0012	0.0092	0.0083	0.0002	0.0373	0.0010	0.0006	0	9.427e-05	0	0.0013	0.0019	0.0116	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.828	0.68658	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.955	0.85029	M	2.39	0.35031	T	-5.91	0.93135	D	0.577	0.59901	-0.6314	0.63511	T	0.209	0.56798	T	10	0.007327825	0.00167	T	.	.	.	0.261	0.57352	.	.	0.662692292153	0.65986	0.589916096667484	0.58921	0.325835097121	0.34731	0.388623774052	0.23475	T	0.260308	0.63166	T	-0.279259	0.10745	T	-0.166521	0.57760	T	0.0883487671110309	0.11020	T	0.89781	0.82322	D	0.72637236	0.79519	0.63070565	0.78457	0.72637236	0.79521	0.63070565	0.78458	-9.787	0.72626	D	.	.	0.131	0.55257	B	.;.;.;.	.;.;.;.	4.903343	0.80616	27.4	0.99912105370551108	0.98095	0.91342	0.53340	D	AEFDBI	0.874708	0.79772	D	0.464599842962669	0.65036	4.772212	0.388537297373506	0.60859	4.278235	0.99999724083156	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.25	3.18	0.35615	1.917000	0.39626	5.649000	0.49176	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.7154:0.2846	13.336	0.59958	41	0.97903	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	550.98	35	chr16	67189100	.	G	A	550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=731;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-1.410e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:22,22:44:99:565,0,529	20	0	1	0
chr16	67391032	67391032	C	G	exonic	TPPP3	.	nonsynonymous SNV	TPPP3:NM_015964:exon2:c.G80C:p.G27A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.92	P	0.9	P	0.000	D	1.000	D	2.47	M	0.97	T	-0.709	T	0.258	T	0.706	4.356	22.9	5.03	2.619	7.651	17.530	0.225	0.0175555925362	7.7e-05	0.000199681	0.0002	0	0	0	0	2.997e-05	0	0.0012	0.0001423	22	154602	rs374128583	8.345e-05	8.345e-05	5.173e-05	0.0001	0.0012	7.136e-05	6.684e-05	0.0010	0.0009	0	4.472e-05	0	0	0	0.0002	1.079e-05	8.279e-05	0.0012	0.0003	0.0003	0.0003	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0	0.0373	0.0001	0	0	0	0	4.41e-05	0	0.0014	0.217	0.19157	T	0.307	0.19908	T	0.92	0.51019	P	0.9	0.63913	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.575	0.75298	M	0.97	0.42502	T	-2.68	0.57275	D	0.774	0.77132	-0.7094	0.59982	T	0.258	0.62856	T	10	0.016255498	0.00342	T	0.017556	0.39307	T	0.225	0.52323	.	.	0.694760578824	0.69213	0.692613586177605	0.69201	1.20030349719	0.80521	0.683516919613	0.64774	T	0.162504	0.50720	T	-0.237366	0.15686	T	-0.159288	0.58416	T	0.314158111810684	0.25584	T	0.930207	0.74183	D	0.4088852	0.61342	0.35810456	0.61293	0.4088852	0.61343	0.35810456	0.61292	-7.235	0.55732	T	.	.	0.593	0.68582	P	.;.;.;.	.;.;.;.	4.674650	0.74743	26.2	0.99769667756163649	0.85750	0.99124	0.91578	D	AEFDGBI	0.971139	0.99327	D	0.712171588351429	0.80429	7.292512	0.695722111608981	0.82053	7.672894	0.999999999999999	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.03	5.03	0.67015	7.905000	0.86479	7.626000	0.62520	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.530	0.87709	21	0.98493	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	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	1728.98	33	chr16	67391032	.	C	G	1728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.217e+00;DP=872;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-5.040e-01;SOR=0.631	GT:AD:DP:GQ:PL	0/1:73,75:148:99:1743,0,1958	20	0	1	0
chr16	67657801	67657801	G	C	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon11:c.C1259G:p.P420R	.	.	.	.	.	.	.	.	.	.	.	1827442	Dyskeratosis_congenita,_autosomal_dominant_6|Inborn_genetic_diseases	MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.982	D	0.829	P	0.377	N	1.000	N	1.7	L	1.48	T	-1.056	T	0.112	T	0.349	3.409	17.51	2.64	1.127	1.188	6.357	0.065	0.0271871235519	.	.	1.65e-05	0	0	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs750023370	1.095e-05	1.094e-05	5.445e-06	1.65e-05	0.0002	6.48e-06	5.24e-06	5.31e-06	3.88e-06	0	0	0	0	0	0.0002	9.892e-06	4.968e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.60972	D	0.969	0.60036	D	0.68	0.59562	P	0.376969	0.13444	N	0.680225	0.999938	0.19363	N	2.255	0.64187	M	.	.	.	.	.	.	0.438	0.47672	-1.0560	0.12776	T	0.112	0.40122	T	10	0.18436	0.33807	T	0.027187	0.50027	D	0.065	0.18881	0.427	0.47350	0.572173585829	0.56884	0.12097539796430509	0.12024	0.412054783873	0.41956	0.324243724346	0.14064	T	0.371108	0.73553	T	-0.130069	0.31485	T	-0.409125	0.32325	T	0.824330747127533	0.48096	D	0.733327	0.35462	T	0.11731527	0.27659	0.14104538	0.33602	0.11731527	0.27659	0.14104538	0.33601	.	.	.	0.7696368426926695	0.85074	0.150	0.43102	B	.;.;.;.;.;.	.;.;.;.;.;.	3.249643	0.44396	21.9	0.99786898313531358	0.87308	0.19153	0.20548	N	AEFDGBCI	0.142833	0.26538	N	0.083603855078002	0.45698	2.822056	-0.00847773803459684	0.39330	2.330327	0.999966026223724	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.76	2.64	0.30504	1.365000	0.33786	3.553000	0.39056	0.618000	0.50648	0.022000	0.19841	0.930000	0.28522	0.984000	0.60418	0.1016:0.0:0.7176:0.1808	6.357	0.20611	43	0.97828	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1338.98	42	chr16	67657801	.	G	C	1338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.236e+00;DP=923;ExcessHet=0.0000;FS=0.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.30;ReadPosRankSum=-1.045e+00;SOR=0.768	GT:AD:DP:GQ:PL	0/1:83,61:144:99:1353,0,2141	20	0	1	0
chr16	67658960	67658960	T	C	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon7:c.A613G:p.T205A	.	.	430	1088	3	1	0	5	0.00229253	.	.	530106	not_specified|ACD-related_disorder|not_provided|Dyskeratosis_congenita,_autosomal_dominant_6	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.996	D	0.99	D	0.000	D	1.000	N	1.04	L	0.21	T	-0.775	T	0.259	T	0.638	4.042	20.7	4.96	1.851	3.851	11.026	0.362	0.11067431758	0.0010	0.000998403	0.0015	0.0002	0.0006	0	0	0.0015	0.0011	0.0042	0.0013777	213	154602	rs139438549	0.0012	0.0012	0.0011	0.0014	0.0044	0.0012	0.0012	0.0040	0.0039	0.0001	0.0007	0.0033	0	0	0.0024	0.0011	0.0012	0.0044	0.0011	0.0011	0.0010	0.0011	0.0044	0.0009	0.0009	0.0029	0.0025	0.0002	0.0373	0.0010	0.0023	0	0	0	0.0011	0.0009	0.0044	.	.	.	0.014	0.62352	D	0.993	0.68779	D	0.978	0.78936	D	0.000104	0.50451	D	0.082287	0.999977	0.18612	N	2.25	0.63811	M	.	.	.	.	.	.	0.499	0.53620	-0.7753	0.56565	T	0.259	0.62999	T	10	0.004820019	0.00102	T	0.110674	0.78815	D	0.362	0.68230	.	.	0.846853498578	0.84538	0.6155730349153837	0.61489	0.450995672873	0.44860	0.410301268101	0.26498	T	0.724472	0.92239	D	-0.251301	0.13939	T	-0.133897	0.60642	T	0.0913144573569298	0.11373	T	0.728227	0.34274	T	0.67759454	0.76840	0.58441406	0.75902	0.8596595	0.88061	0.54078	0.73460	.	.	.	0.8377694817202448	0.90702	0.456	0.65780	A	.;.;.;.;.;.	.;.;.;.;.;.	3.822991	0.55215	23.6	0.99520996860738109	0.69222	0.67895	0.33599	D	AEFDGBCI	0.373121	0.45851	N	0.225927322891359	0.52458	3.419881	0.141210490154682	0.46678	2.909948	0.999999985881756	0.74766	0.741868	0.97996	0	0.672317	0.65289	0	0.774882	0.98623	0	0.735409	0.98432	0	.	.	4.96	4.96	0.65153	2.605000	0.45947	6.123000	0.53812	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.624000	0.32000	0.0:0.0:0.0:1.0	11.026	0.46963	43	0.97828	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2141.98	35	chr16	67658960	.	T	C	2141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.358e+00;DP=930;ExcessHet=0.0000;FS=1.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=1.06;SOR=0.826	GT:AD:DP:GQ:PL	0/1:107,92:199:99:2156,0,2888	20	0	1	0
chr16	67842923	67842923	-	CAG	exonic	THAP11	.	nonframeshift insertion	THAP11:NM_020457:exon1:c.369_370insCAG:p.Q132_S133insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8936.32	34	chr16	67842920	.	ACAG	A,ACAGCAG	8936.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.124;DP=1180;ExcessHet=0.9430;FS=4.197;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.55;ReadPosRankSum=0.922;SOR=1.032	GT:AD:DP:GQ:PL	0/2:46,0,24:70:99:835,974,2826,0,1852,1780	13	1	6	0
chr16	72787701	72787703	GCC	-	exonic	ZFHX3	.	nonframeshift deletion	ZFHX3:NM_001164766:exon9:c.7831_7833del:p.G2613del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	19724.38	41	chr16	72787694	.	AGCCGCCGCC	A,AGCCGCC,AGCCGCCGCCGCC	19724.38	.	AC=4,1,1;AF=0.095,0.024,0.024;AN=42;BaseQRankSum=0.863;DP=1981;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=4,1,1;MLEAF=0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=21.16;ReadPosRankSum=-6.700e-02;SOR=0.725	GT:AD:DP:GQ:PL	0/1:105,97,0,0:204:99:3474,0,3954,3992,4440,9483,3992,4440,9483,9483	16	0	3	0
chr16	72787703	72787703	-	GCC	exonic	ZFHX3	.	nonframeshift insertion	ZFHX3:NM_001164766:exon9:c.7830_7831insGGC:p.G2613_S2614insG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	19724.38	41	chr16	72787694	.	AGCCGCCGCC	A,AGCCGCC,AGCCGCCGCCGCC	19724.38	.	AC=4,1,1;AF=0.095,0.024,0.024;AN=42;BaseQRankSum=0.863;DP=1981;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=4,1,1;MLEAF=0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=21.16;ReadPosRankSum=-6.700e-02;SOR=0.725	GT:AD:DP:GQ:PL	0/1:105,97,0,0:204:99:3474,0,3954,3992,4440,9483,3992,4440,9483,9483	16	0	3	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	0/1:19,20,0:39:99:568,0,502,625,562,1187	11	2	7	0
chr16	86510654	86510654	G	T	exonic	FOXF1	.	nonsynonymous SNV	FOXF1:NM_001451:exon1:c.G85T:p.A29S,	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	336305	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.78	T	0.012	B	0.006	B	.	.	0.997	D	0	N	-3.86	D	-0.285	T	0.590	D	0.106	-0.614	1.267	2.28	0.692	2.680	10.204	0.258	0.87117369	0.0002	0.000199681	0.0001	0	0.0002	0	0	0.0002	0.0028	0	7.76e-05	12	154602	rs373503439	3.452e-05	3.557e-05	3.569e-05	3.334e-05	0.0003	2.656e-05	2.397e-05	0.0002	0.0002	3.026e-05	0.0003	0.0002	0	0	0	2.258e-05	5.033e-05	1.176e-05	1.977e-05	1.97e-05	2.579e-05	1.348e-05	6.551e-05	5.26e-06	2.46e-06	4.89e-06	1.83e-06	0	0	6.551e-05	0	0	0	0	2.947e-05	0	0	0.299	0.14546	T	0.695	0.05825	T	0.012	0.16265	B	0.006	0.12133	B	.	.	.	.	0.996753	0.43396	D	0	0.06538	N	-3.86	0.95891	D	0.31	0.04022	N	0.129	0.12341	-0.2850	0.75404	T	0.590	0.85320	D	9	0.06693658	0.09255	T	0.871174	0.99015	D	0.258	0.56959	.	.	0.41767021734	0.41382	0.5089539679211464	0.50817	.	.	0.834429383278	0.87241	D	0.153577	0.49449	T	-0.243161	0.14949	T	-0.288124	0.45967	T	0.0047689712689035	0.00051	T	0.440256	0.12156	T	0.10229264	0.24170	0.13500386	0.32335	0.08503591	0.19707	0.15600893	0.36542	-2.984	0.10010	T	0.0623405500016317	0.01841	0.066	0.02228	B	.	.	2.811467	0.37014	20.4	0.75559715118271653	0.11122	0.65208	0.32661	D	AEFDBHCIJ	0.312076	0.41762	N	-0.991833748267144	0.08777	0.4128554	-0.877473683861996	0.12629	0.6507103	0.999999703022704	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	3.27	2.28	0.27583	0.690000	0.25132	8.145000	0.76695	-0.171000	0.11205	0.013000	0.18845	1.000000	0.68203	0.701000	0.34172	0.0:0.2056:0.7944:0.0	10.204	0.42278	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	718.98	36	chr16	86510654	.	G	T	718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=796;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=-1.243e+00;SOR=0.780	GT:AD:DP:GQ:PL	0/1:43,32:75:99:733,0,898	20	0	1	0
chr16	89769951	89769951	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon26:c.C2390T:p.A797V	Fanconi anemia, complementation group A, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	530421	Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_provided|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	0.002	B	0.001	B	0.261	N	1.000	N	0	N	-1.82	D	-0.737	T	0.285	T	0.041	0.919	8.743	-9.26	-2.861	-1.413	12.127	0.168	0.0352855611351	0.0003	0.000199681	0.0004	0.0006	8.678e-05	0	0	0.0005	0.0011	0.0002	0.0003105	48	154602	rs138248569	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	0.0002	8.944e-05	3.826e-05	0	1.877e-05	0.0009	0.0002	0.0003	0.0001	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0002	0	0.0002	0	0	0.0004	0	0	0.537	0.06869	T	0.534	0.09965	T	0.001	0.07471	B	0.001	0.04355	B	0.261112	0.03709	N	1.536950	1	0.08975	N	-0.365	0.03101	N	-1.82	0.84047	D	0.12	0.05604	N	0.029	0.00666	-0.7371	0.58601	T	0.285	0.65724	T	10	0.026365042	0.00805	T	0.035286	0.56245	D	0.168	0.42943	.	.	0.7014751448	0.69889	0.07588697924729894	0.07524	.	.	0.329142212868	0.14805	T	0.068997	0.33598	T	-0.470256	0.00847	T	-0.597111	0.13054	T	0.00241497756322022	0.00025	T	0.542346	0.19192	T	0.01032362	0.00007	0.025166135	0.00552	0.009292143	0.00002	0.024710225	0.00495	-3.754	0.20342	T	0.10835342799951482	0.08924	0.064	0.01668	B	.;.	.;.	-1.040168	0.00715	0.021	0.68435054147734564	0.08657	0.00674	0.02901	N	AEFDBI	0.031507	0.03385	N	-1.76087640924679	0.00648	0.02796099	-1.84408196287035	0.00628	0.02791774	0.999998964789265	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	-9.26	0.00563	-1.329000	0.02784	-5.076000	0.01859	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.091000	0.17840	0.745:0.0:0.1636:0.0913	12.127	0.53225	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.04762	1786.11	40	chr16	89769951	.	G	A	1786.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.596;DP=906;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.453;SOR=0.693	GT:AD:DP:GQ:PL	0/1:36,40:76:99:1008,0,825	19	0	2	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2918.97	43	chr17	413815	.	C	T,*	2918.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-9.170e-01;DP=995;ExcessHet=1.0444;FS=2.763;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=51.80;MQRankSum=-3.755e+00;QD=7.60;ReadPosRankSum=-9.580e-01;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,12,0:40:99:0|1:413815_C_T:366,0,1123,450,1159,1609:413815	10	0	5	3
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3137.97	43	chr17	413822	.	C	A,*	3137.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-1.168e+00;DP=1002;ExcessHet=1.0444;FS=2.178;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.17;MQRankSum=-3.592e+00;QD=7.94;ReadPosRankSum=-4.250e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,13,0:43:99:0|1:413815_C_T:391,0,1204,481,1243,1725:413815	10	0	5	3
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3065.97	43	chr17	413824	.	C	T,*	3065.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.335;DP=1012;ExcessHet=1.0444;FS=2.500;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.20;MQRankSum=-3.428e+00;QD=7.59;ReadPosRankSum=-6.710e-01;SOR=0.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,11,0:43:99:0|1:413815_C_T:342,0,1213,435,1246,1681:413815	10	0	5	3
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3197.3	43	chr17	413831	.	A	G,*	3197.3	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.140;DP=1043;ExcessHet=1.1637;FS=2.534;InbreedingCoeff=0.0221;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.56;MQRankSum=-3.559e+00;QD=7.69;ReadPosRankSum=-1.155e+00;SOR=0.480	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,23,0:45:99:0|1:413815_C_T:546,0,619,612,676,1288:413815	10	0	5	3
chr17	747357	747357	C	T	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.G686A:p.R229Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.072	B	0.022	B	0.017	N	1.000	N	1.61	L	2.5	T	-1.013	T	0.030	T	0.179	-0.905	0.427	2.37	0.274	0.535	11.467	0.022	0.00520077273776	.	.	8.295e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs776409306	1.847e-05	1.847e-05	1.906e-05	1.788e-05	0.0002	1.265e-05	1.084e-05	1.295e-05	1.106e-05	0	0	0	0	0	0.0002	1.979e-05	1.656e-05	3.478e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.508	0.07545	T	0.553	0.14500	T	0.072	0.23997	B	0.022	0.19653	B	0.016852	0.27871	N	0.437339	1	0.08975	N	2.08	0.57402	M	2.5	0.14408	T	0.19	0.04947	N	0.044	0.01658	-1.0127	0.26070	T	0.030	0.13023	T	10	0.06273785	0.08068	T	0.005201	0.13248	T	0.022	0.04323	.	.	0.361558571881	0.35766	0.09270868343319491	0.09202	0.150705960486	0.16997	0.220036566257	0.01312	T	0.019662	0.15622	T	-0.404092	0.02176	T	-0.636699	0.09913	T	0.049535992749366	0.05417	T	0.609739	0.23084	T	0.018488575	0.00370	0.028924419	0.01176	0.018488575	0.00370	0.028924419	0.01176	-3.569	0.17410	T	.	.	0.082	0.09045	B	.;.;.;.	.;.;.;.	0.864852	0.12376	8.912	0.65094010819872372	0.07676	0.09812	0.15482	N	AEFDBCI	0.061280	0.11703	N	-1.08593234480482	0.06902	0.3190561	-1.09746486977808	0.07750	0.3782153	0.0624746849537814	0.15264	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.6	2.37	0.28337	0.726000	0.25653	0.456000	0.18569	-1.787000	0.00643	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7811:0.0:0.2189	11.467	0.49490	946	0.12043	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1774.98	33	chr17	747357	.	C	T	1774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=960;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-1.444e+00;SOR=0.666	GT:AD:DP:GQ:PL	0/1:71,64:135:99:1789,0,1814	20	0	1	0
chr17	1769918	1769918	G	A	exonic	SERPINF1	.	nonsynonymous SNV	SERPINF1:NM_001329903:exon3:c.G151A:p.V51M	Osteogenesis imperfecta, type VI	.	.	.	.	.	.	.	.	.	.	740627	not_provided|Osteogenesis_imperfecta|not_specified|Osteogenesis_imperfecta_type_6	MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:CN169374|MONDO:MONDO:0013515,MedGen:C3279564,OMIM:613982,Orphanet:666	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.18	T	0.951	P	0.257	B	0.091	N	1.000	D	0.695	N	1.28	T	-1.143	T	0.027	T	0.62	3.157	16.56	5.67	2.690	0.890	9.678	0.139	.	7.7e-05	0.00559105	0.0014	0.0002	0	0.0184	0	1.499e-05	0	0.0004	0.0014618	226	154602	rs150899084	0.0005	0.0005	0.0005	0.0005	0.0117	0.0005	0.0004	0.0108	0.0105	0.0002	0.0001	0	0.0117	0	0.0003	3.237e-05	0.0023	0.0006	0.0007	0.0007	0.0006	0.0008	0.0175	0.0006	0.0006	0.0146	0.0135	0.0001	0	6.537e-05	0	0.0175	0	0	1.47e-05	0.0009	0.0019	0.284	0.15303	T	0.044	0.69154	D	0.951	0.53992	P	0.257	0.39298	B	0.090705	0.20362	N	0.544252	1	0.81001	D	2.665	0.77964	M	1.28	0.87512	T	-0.16	0.09460	N	0.175	0.18784	-1.1428	0.01257	T	0.027	0.11663	T	10	0.009355158	0.00211	T	.	.	.	0.139	0.37390	.	.	0.890675266327	0.88959	0.5842444823527361	0.58353	0.0922780189812	0.10416	0.540720820427	0.44547	T	0.049771	0.28402	T	-0.206713	0.19845	T	-0.0541107	0.66740	D	0.0334724921535293	0.02549	T	0.916508	0.70155	D	0.07177923	0.15916	0.05260933	0.08700	0.07553493	0.17022	0.046458937	0.06480	-5.303	0.39973	T	.	.	0.130	0.36772	B	.;.;.;.;.	.;.;.;.;.	3.892312	0.56638	23.8	0.99699523928408185	0.80522	0.57695	0.30444	D	ALL	0.693195	0.65260	D	0.162472537462544	0.49403	3.141191	0.251476668093129	0.52733	3.44622	0.999999999621914	0.74766	0.730579	0.87903	0	0.681609	0.65952	0	0.749866	0.98131	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	0.936000	0.28536	6.582000	0.56000	0.668000	0.69082	0.649000	0.28163	1.000000	0.68203	0.970000	0.54328	0.1909:0.0:0.8091:0.0	9.678	0.39219	636	0.64483	Pigment epithelium derived factor;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1379.98	34	chr17	1769918	.	G	A	1379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=891;ExcessHet=0.0000;FS=3.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=0.016;SOR=0.448	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1394,0,1350	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	1/1:0,114,0:114:99:3244,342,0,3244,342,3244	14	2	4	0
chr17	6760580	6760580	G	T	exonic	XAF1	.	stopgain	XAF1:NM_199139:exon3:c.G343T:p.E115X	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	.	.	.	.	0.012	N	1.000	D	.	.	.	.	.	.	.	.	.	0.136	4.733	-5.71	-1.202	-1.163	5.642	.	.	0.0042	0.00139776	0.0037	0.0012	0.0021	0	0.0017	0.0056	0.0080	0.0012	0.0038098	589	154602	rs146752602	0.0055	0.0055	0.0056	0.0053	0.0066	0.0054	0.0053	0.0065	0.0065	0.0010	0.0021	7.661e-05	0	0.0022	0.0023	0.0066	0.0050	0.0010	0.0037	0.0037	0.0041	0.0032	0.0059	0.0034	0.0033	0.0054	0.0052	0.0008	0.0669	0.0016	0	0	0.0027	0	0.0059	0.0019	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.012108	0.01326	N	2.424610	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.507	0.65673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.239564	0.15404	T	-0.112047	0.62448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	4.839084	0.78981	27.0	0.75401304140767478	0.11061	0.08653	0.14552	N	AEFBCI	0.020562	0.00824	N	-0.464678502998854	0.23244	1.246906	-0.917117463289183	0.11690	0.597124	0.999902288651337	0.45458	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	3.77	-5.71	0.02218	-1.649000	0.02095	-2.174000	0.04104	-1.436000	0.01109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5139:0.2645:0.2216:0.0	5.642	0.16846	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	706.98	34	chr17	6760580	.	G	T	706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.105e+00;DP=826;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.43;ReadPosRankSum=-1.034e+00;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,33:75:99:1|0:6760576_C_G:721,0,1639:6760576	20	0	1	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.554	P	0.802	P	0.001	D	0.604	N	2.585	M	3.56	T	-1.117	T	0.046	T	0.639	4.235	22.0	2.75	0.471	1.653	10.030	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,50,14:165:99:.:.:474,0,3104,584,1631,2137	6	0	10	4
chr17	6800775	6800775	C	T	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021A:p.V341I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.112	B	0.341	B	0.001	N	0.837	N	1.89	L	3.53	T	-1.084	T	0.031	T	0.091	3.174	16.62	2.75	0.471	1.653	10.030	0.067	0.00715835594955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.081	0.41742	T	0.112	0.26290	B	0.341	0.42432	B	0.000902	0.41128	N	0.246339	0.836835	0.28685	N	2.085	0.57729	M	3.53	0.04852	T	-0.93	0.24898	N	0.185	0.20129	-1.0839	0.06609	T	0.031	0.13199	T	10	0.22078857	0.38785	T	0.007158	0.18979	T	0.067	0.19503	0.712	0.84781	0.148003135375	0.14442	0.3112784524375874	0.31040	0.154972287805	0.17502	0.400090247393	0.25082	T	0.025988	0.19322	T	-0.29632	0.09012	T	-0.663419	0.08038	T	0.66377192735672	0.39061	D	0.726327	0.34071	T	0.10866317	0.25691	0.13250326	0.31794	0.10866317	0.25691	0.13250326	0.31794	-5.762	0.44242	T	.	.	0.090	0.12512	B	.	.	2.315459	0.29642	18.19	0.99362639271959785	0.61071	0.80189	0.39893	D	AEFDBHCI	0.113020	0.22317	N	-0.0799309812297689	0.38272	2.239086	-0.0159644293184332	0.38992	2.305383	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,50,14:165:99:.:.:474,0,3104,584,1631,2137	6	0	10	4
chr17	6800776	6800776	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1020C:p.E340D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.994	D	3.515	H	2.96	T	-0.982	T	0.107	T	0.857	4.089	21.0	2.8	0.492	1.521	8.074	0.326	0.028278372682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098481	0.983136	0.42247	D	3.525	0.93020	H	2.96	0.09542	T	-2.88	0.60507	D	0.808	0.80375	-0.9824	0.34445	T	0.107	0.39051	T	10	0.95349437	0.94696	D	0.028278	0.50978	D	0.326	0.64826	0.877	0.96683	0.497481867153	0.49385	0.6113345721572323	0.61065	0.419681481569	0.42513	0.529784560204	0.43004	T	0.202368	0.56052	T	0.124774	0.66848	D	-0.0585471	0.66434	T	0.995554625988007	0.87638	D	0.840516	0.51562	T	0.7195699	0.79137	0.5731973	0.75279	0.7195699	0.79139	0.5731973	0.75280	-8.963	0.67458	D	.	.	0.829	0.78671	P	.	.	3.572194	0.50313	22.9	0.9983085278040047	0.91284	0.84486	0.43568	D	AEFDBHCI	0.220516	0.34526	N	0.55574673951639	0.70432	5.500766	0.423949101341838	0.63059	4.532556	0.999819604160299	0.43459	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.8	0.31881	1.605000	0.36426	0.787000	0.21533	0.599000	0.40250	1.000000	0.71638	0.338000	0.24408	0.976000	0.56436	0.0:0.6876:0.0:0.3124	8.074	0.29869	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1944	1543.06	69	chr17	6800776	.	C	G,T	1543.06	.	AC=4,3;AF=0.111,0.083;AN=36;BaseQRankSum=-3.449e+00;DP=2429;ExcessHet=2.5830;FS=177.172;InbreedingCoeff=-0.2591;MLEAC=4,3;MLEAF=0.111,0.083;MQ=60.00;MQRankSum=0.00;QD=1.70;ReadPosRankSum=0.492;SOR=11.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,45,0:172:99:.:.:441,0,3283,854,3648,5721	11	0	4	3
chr17	7236157	7236165	TCCTCTTCC	-	exonic	PHF23	.	nonframeshift deletion	PHF23:NM_001284517:exon4:c.561_569del:p.E192_E194del	.	.	379	1135	7	1	0	9	0.0039491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000998403	0.0009	0.0007	0.0010	0.0021	0.0005	0.0003	0	0.0030	0.0002689	7	26028	rs569508322	0.0006	0.0006	0.0005	0.0007	0.0027	0.0005	0.0005	0.0024	0.0023	0.0006	0.0007	0	0.0013	0.0004	0.0026	0.0004	0.0009	0.0027	0.0009	0.0009	0.0009	0.0009	0.0037	0.0008	0.0007	0.0024	0.0020	0.0011	0.0252	0.0006	0	0.0017	0.0006	0	0.0003	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1051.94	35	chr17	7236156	.	TTCCTCTTCC	T	1051.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=848;ExcessHet=0.0000;FS=5.905;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=1.75;SOR=0.289	GT:AD:DP:GQ:PL	0/1:46,35:81:99:1066,0,1754	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	1/2:0,24,18,0,0,0:42:99:1968,721,606,969,0,867,1835,710,955,1786,1835,710,955,1786,1786,1835,710,955,1786,1786,1786	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	1/2:0,24,18,0,0,0:42:99:1968,721,606,969,0,867,1835,710,955,1786,1835,710,955,1786,1786,1835,710,955,1786,1786,1786	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	1/2:0,24,18,0,0,0:42:99:1968,721,606,969,0,867,1835,710,955,1786,1835,710,955,1786,1786,1835,710,955,1786,1786,1786	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	1/2:0,24,18,0,0,0:42:99:1968,721,606,969,0,867,1835,710,955,1786,1835,710,955,1786,1786,1835,710,955,1786,1786,1786	0	14	0	0
chr17	10448672	10448672	C	-	exonic	MYH4	.	frameshift deletion	MYH4:NM_017533:exon32:c.4477delG:p.E1493Rfs*10,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0005	0	0	0.0011	0.0007	0.00011	17	154602	rs773763976	6.978e-05	6.977e-05	5.581e-05	8.388e-05	0.0007	5.847e-05	5.457e-05	0.0006	0.0005	0	0	0	0.0005	0	0	0	0.0003	0.0007	4.595e-05	4.593e-05	2.569e-05	6.711e-05	0.0008	2.107e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2369.94	34	chr17	10448671	.	TC	T	2369.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-02;DP=897;ExcessHet=0.0000;FS=1.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-2.920e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:114,73:187:99:2384,0,4031	20	0	1	0
chr17	15738743	15738743	G	T	exonic	TBC1D26	.	nonsynonymous SNV	TBC1D26:NM_178571:exon8:c.G410T:p.R137M,	.	.	420	1071	29	2	0	33	0.0151724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.986	D	0.811	U	1.000	N	2.57	M	1.34	T	-0.884	T	0.189	T	0.323	1.019	9.162	-2.89	-0.585	-0.947	5.239	0.053	0.00300793216827	0.0036	0.00279553	0.0048	0.0014	0.0052	0	0.0051	0.0052	0.01	0.0073	0.0002846	44	154602	rs200599059	0.0045	0.0046	0.0043	0.0047	0.0115	0.0044	0.0044	0.0092	0.0084	0.0007	0.0035	0.0057	2.519e-05	0.0047	0.0115	0.0045	0.0046	0.0080	0.0036	0.0036	0.0034	0.0038	0.0083	0.0033	0.0032	0.0063	0.0055	0.0010	0	0.0048	0.0058	0	0.0034	0.0204	0.0048	0.0024	0.0083	0.056	0.38185	T	0.005	0.72224	D	1.0	0.90584	D	0.981	0.76916	D	0.811425	0.06830	U	1.143400	1	0.08975	N	2.305	0.65957	M	1.34	0.34841	T	-4.52	0.78302	D	0.25	0.31925	-0.8839	0.49448	T	0.189	0.54019	T	10	0.008189052	0.00186	T	0.003008	0.06457	T	0.053	0.14996	.	.	0.283761946502	0.27984	0.1447487754314169	0.14397	3.50374879105	0.99750	0.374598145485	0.21488	T	0.025945	0.19300	T	-0.509024	0.00508	T	-0.498686	0.22484	T	0.0571589763682511	0.06715	T	0.715328	0.35508	T	0.20950828	0.43220	0.28097957	0.54077	0.20950828	0.43219	0.28097957	0.54076	-4.518	0.43479	T	.	.	0.218	0.44809	B	.;.;.	.;.;.	1.291697	0.16929	12.85	0.89938657323165594	0.19236	0.00244	0.01352	N	AEFGI	0.044614	0.07199	N	-0.472508272218424	0.22984	1.231116	-0.852455980394181	0.13229	0.6850969	1.92644233888728E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.44	-2.89	0.05326	-0.806000	0.04632	-0.367000	0.09633	0.350000	0.19923	0.000000	0.06391	0.000000	0.08366	0.117000	0.19042	0.0:0.0:0.4793:0.5207	5.239	0.14780	725	0.54935	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC 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	6446.68	35	chr17	15738743	.	G	T	6446.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.76;DP=1250;ExcessHet=0.3300;FS=3.245;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=47.07;MQRankSum=-6.547e+00;QD=11.55;ReadPosRankSum=-8.360e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/1:56,93:149:99:2305,0,1046	18	0	3	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	0/1:5,3,0:8:99:111,0,201,126,210,336	5	7	8	0
chr17	18148792	18148792	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon32:c.G6796A:p.V2266M,	Deafness, autosomal recessive 3, Autosomal recessive	.	0	1484	38	0	0	38	0.0126414	.	.	176472	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_provided|not_specified	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	.	.	1.000	D	2.69	M	-2.94	D	0.804	D	0.828	D	0.176	2.915	15.71	4.26	2.203	3.113	16.852	0.691	.	0.0069	0.00998403	0.0081	0.0308	0.0040	0.0048	0.0071	0.0053	0.0071	0.0094	0.0044437	687	154602	rs114274755	0.0038	0.0038	0.0036	0.0039	0.0191	0.0037	0.0037	0.0179	0.0174	0.0191	0.0027	0.0018	0.0012	0.0017	0.0129	0.0031	0.0062	0.0079	0.0079	0.0079	0.0082	0.0075	0.0183	0.0075	0.0073	0.0172	0.0168	0.0183	0.0033	0.0044	0.0023	0.0042	0.0022	0.0102	0.0037	0.0099	0.0083	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.981	0.75168	D	.	.	.	.	0.999726	0.48557	D	2.85	0.82803	M	-2.94	0.91851	D	-2.58	0.55662	D	0.256	0.48596	0.804	0.94464	D	0.828	0.94224	D	9	0.00869599	0.00197	T	.	.	.	0.691	0.88773	.	.	0.789955191066	0.78800	0.7734870707751024	0.77298	.	.	0.466697096825	0.34228	T	0.159079	0.89826	T	-0.270151	0.11740	T	-0.144573	0.59720	T	0.0186068453905915	0.00574	T	0.832317	0.50011	T	0.21298486	0.43665	0.28708565	0.54719	0.25677887	0.48718	0.29830658	0.55863	-11.467	0.82157	D	0.6535977975587219	0.72609	0.214	0.44293	B	.;.;.	.;.;.	3.896003	0.56716	23.8	0.9957329123921802	0.72561	0.94542	0.61503	D	AEFDBI	0.440353	0.49895	N	0.609228781352819	0.73758	6.018633	0.518113720952307	0.69208	5.327907	0.99869715174054	0.37477	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.26	4.26	0.49832	3.346000	0.51907	7.578000	0.60885	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.852	0.85862	188	0.92666	.;.;.	.	.	.	.	.	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	584.98	38	chr17	18148792	.	G	A	584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=776;ExcessHet=0.0000;FS=2.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=-3.470e-01;SOR=0.851	GT:AD:DP:GQ:PL	0/1:30,25:55:99:599,0,663	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	0/1:45,49:94:99:614,0,580	0	0	21	0
chr17	40291139	40291139	A	G	exonic	CDC6	.	nonsynonymous SNV	CDC6:NM_001254:exon3:c.A260G:p.H87R,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	0.175	N	1.000	N	0	N	0.92	T	-1.048	T	0.034	T	0.171	-0.840	0.573	-1.5	0.077	0.102	0.826	0.031	0.00339265989156	.	.	2.472e-05	0	0.0003	0	0	0	0	0	1.94e-05	3	154602	rs763169578	5.473e-06	5.472e-06	9.529e-06	1.375e-06	0.0002	2.35e-06	1.7e-06	7.281e-05	5.16e-05	2.987e-05	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.02840	T	0.564	0.08991	T	0.0	0.02946	B	0.0	0.01387	B	0.174631	0.17274	N	0.587355	0.999997	0.08975	N	-0.85	0.01485	N	0.92	0.44461	T	0.09	0.05917	N	0.01	0.00095	-1.0480	0.14960	T	0.034	0.14596	T	10	0.018920332	0.00416	T	0.003393	0.07603	T	0.031	0.07369	0.159	0.06287	0.393775345888	0.38992	0.11005166258663047	0.10934	0.230498149656	0.25597	0.224944710732	0.01615	T	0.010688	0.09625	T	-0.438516	0.01320	T	-0.598374	0.12948	T	0.0321142954523574	0.02324	T	0.360464	0.10010	T	0.01831639	0.00353	0.020786818	0.00155	0.01831639	0.00353	0.020786818	0.00155	-2.794	0.08128	T	.	.	0.052	0.00543	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.388975	0.02254	0.231	0.17205590292563383	0.00492	0.01959	0.05945	N	AEFGBCIJ	0.024998	0.01638	N	-1.19828746920416	0.05026	0.2281752	-1.12191840804506	0.07283	0.3536424	0.999888274714594	0.44867	0.730579	0.87903	0	0.749866	0.99406	0	0.698795	0.65105	0	0.636	0.56748	0	.	.	5.52	-1.5	0.08233	0.115000	0.15373	0.202000	0.15863	-0.156000	0.11795	0.017000	0.19353	0.000000	0.08366	0.053000	0.15439	0.3401:0.1278:0.3466:0.1855	0.826	0.01050	350	0.85473	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	7669.98	33	chr17	40291139	.	A	G	7669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.324e+00;DP=1379;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=0.200;SOR=0.708	GT:AD:DP:GQ:PL	0/1:316,331:647:99:7684,0,7587	20	0	1	0
chr17	40779575	40779575	G	A	exonic	KRT27	.	nonsynonymous SNV	KRT27:NM_181537:exon5:c.C899T:p.A300V,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.883	P	0.566	P	0.000	D	0.610	N	1.91	M	-2.48	D	0.528	D	0.682	D	0.59	4.461	23.8	5.52	2.754	-0.645	14.027	0.461	0.14225005127	.	.	2.473e-05	0	0	0	0	1.5e-05	0.0011	6.058e-05	1.94e-05	3	154602	rs772002793	1.642e-05	1.642e-05	1.225e-05	2.063e-05	0.0002	1.111e-05	9.33e-06	1.093e-05	8.81e-06	0	0	0	5.038e-05	0	0.0002	1.709e-05	1.656e-05	1.159e-05	1.969e-05	1.968e-05	1.284e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.375e-05	0	0	0	0	0.0006	0	0	0	0	0	0.009	0.57480	D	0.087	0.40747	T	0.883	0.48537	P	0.566	0.49756	P	0.000015	0.62929	D	0.000000	0.610194	0.30867	N	2.39	0.68882	M	-2.48	0.89071	D	-2.68	0.57275	D	0.109	0.09490	0.528	0.90935	D	0.682	0.89000	D	10	0.2694285	0.44469	T	0.14225	0.82464	D	0.461	0.75822	.	.	0.62465077226	0.62159	0.4731274374558862	0.47231	0.625028188271	0.56690	0.463449835777	0.33783	T	0.442073	0.78637	T	-0.0361819	0.46514	T	-0.120621	0.61751	T	0.861661314964294	0.51203	D	0.937406	0.76468	D	0.4473892	0.63876	0.54527634	0.73715	0.4473892	0.63877	0.54527634	0.73716	-7.402	0.56919	T	.	.	0.183	0.39630	B	.	.	3.825224	0.55259	23.6	0.99923230658057349	0.98917	0.33339	0.24804	N	ALL	0.151501	0.27600	N	0.103775436966709	0.46639	2.90116	0.0444480222828003	0.41804	2.517681	0.999999899400488	0.74766	0.59774	0.34471	0	0.475579	0.06741	0	0.607795	0.38427	0	0.63947	0.58350	0	.	.	5.52	5.52	0.82153	-0.198000	0.09506	5.071000	0.47178	0.618000	0.50648	0.000000	0.06391	1.000000	0.68203	0.679000	0.33513	0.0:0.1514:0.8486:0.0	14.027	0.64111	65	0.97253	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1653.98	38	chr17	40779575	.	G	A	1653.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=1065;ExcessHet=0.0000;FS=1.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=0.129;SOR=0.520	GT:AD:DP:GQ:PL	0/1:46,67:113:99:1668,0,972	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	0/2:41,0,19:60:99:655,778,2500,0,1722,1662	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	1/1:0,49,0:49:99:2010,140,0,2017,147,2024	6	11	3	0
chr17	42040181	42040181	C	T	exonic	C17orf113	.	nonsynonymous SNV	C17orf113:NM_001358661:exon3:c.G1552A:p.A518T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262611863	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.571e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999994	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18257254	0.33543	T	.	.	.	.	.	.	.	.	.	0.33932591832900727	0.33845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.570043	0.20293	T	0.05215316	0.09685	0.25041515	0.50632	0.05215316	0.09685	0.25041515	0.50631	-5.306	0.40003	T	.	.	0.103	0.18331	B	.	.	2.241371	0.28623	17.86	0.93650470231375504	0.23534	0.32445	0.24587	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.605880491523443	0.21764	0.11394	0.02926	0	0.097471	0.02872	0	0.099915	0.03048	0	0.166187	0.04126	0	0.221137	0.31374	4.98	2.95	0.33285	1.288000	0.32901	1.030000	0.23473	0.599000	0.40250	0.945000	0.32849	0.347000	0.24452	0.771000	0.36558	0.4361:0.4792:0.0:0.0847	6.816	0.23015	489	0.76795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	32.51	2	chr17	42040181	.	C	T	32.51	.	AC=2;AF=0.053;AN=38;DP=84;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1907;MLEAC=1;MLEAF=0.026;MQ=60.00;QD=16.26;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	18	1	0	2
chr17	42844870	42844870	G	A	exonic	AOC2	.	nonsynonymous SNV	AOC2:NM_001158:exon1:c.G244A:p.A82T	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.981	D	0.824	P	0.006	N	0.989	D	1.475	L	1.45	T	-1.093	T	0.110	T	0.344	2.969	15.90	4.99	2.606	2.011	11.885	0.098	0.00655830723686	0.0018	0.000399361	0.0010	0.0004	0.0005	0	0	0.0017	0	0.0003	0.0010026	155	154602	rs139603521	0.0020	0.0020	0.0021	0.0019	0.0025	0.0020	0.0019	0.0024	0.0024	0.0003	0.0003	3.841e-05	0	3.761e-05	0	0.0025	0.0016	0.0003	0.0011	0.0011	0.0012	0.0009	0.0020	0.0009	0.0009	0.0018	0.0017	0.0005	0	0.0002	0	0	0	0	0.0020	0.0009	0.0004	0.011	0.56456	D	0.087	0.40909	T	0.981	0.59675	D	0.824	0.59271	P	0.006259	0.32164	N	0.344745	0.989278	0.40921	D	2.155	0.60227	M	1.45	0.32482	T	-1.64	0.39314	N	0.218	0.31365	-1.0932	0.05020	T	0.110	0.39699	T	10	0.013290256	0.00282	T	0.006558	0.17301	T	0.098	0.28162	.	.	0.462809833587	0.45907	0.345807186843991	0.34494	0.0512075118454	0.05634	0.418348014355	0.27610	T	0.141816	0.47708	T	-0.37543	0.03328	T	-0.325286	0.41992	T	0.0612307800964604	0.07361	T	0.940639	0.78384	D	0.3065857	0.53489	0.34650066	0.60317	0.3065857	0.53489	0.34650066	0.60317	-8.748	0.66172	D	.	.	0.108	0.26074	B	.;.	.;.	3.466656	0.48348	22.6	0.99905248291443438	0.97576	0.67187	0.33342	D	AEFDGBHCI	0.220830	0.34553	N	0.286382581808364	0.55457	3.709818	0.266739338718964	0.53608	3.528884	0.996816991095992	0.35031	0.372202	0.05800	0	0.379588	0.06130	0	0.486962	0.07600	0	0.491896	0.07777	0	.	.	4.99	4.99	0.65942	1.492000	0.35203	5.493000	0.48753	0.590000	0.31872	0.072000	0.22128	1.000000	0.68203	0.982000	0.59238	0.0796:0.0:0.9204:0.0	11.885	0.51876	262	0.89730	Copper amine oxidase, N2-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	1489.98	35	chr17	42844870	.	G	A	1489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=830;ExcessHet=0.0000;FS=3.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-9.750e-01;SOR=0.794	GT:AD:DP:GQ:PL	0/1:60,53:113:99:1504,0,1543	20	0	1	0
chr17	43091492	43091492	T	C	exonic	BRCA1	.	nonsynonymous SNV	BRCA1:NM_007297:exon9:c.A3898G:p.R1300G	.	YES	0	1521	1	0	0	1	0.000328623	.	.	50260	Familial_cancer_of_breast|not_specified|not_provided|Hereditary_breast_ovarian_cancer_syndrome|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|Breast-ovarian_cancer,_familial,_susceptibility_to,_1	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN221562|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.01	D	0.255	B	0.071	B	0.018	N	0.999	N	1.845	L	-2.25	D	-0.376	T	0.450	T	0.711	1.329	10.36	2.98	0.439	1.193	6.180	0.527	0.286124731888	0.0048	0.000599042	0.0040	0.0011	0.0012	0	0.0012	0.0064	0.0022	0.0011	0.0042108	651	154602	rs28897689	0.0060	0.0060	0.0062	0.0057	0.0072	0.0058	0.0058	0.0071	0.0070	0.0007	0.0017	0.0009	0	0.0025	0.0003	0.0072	0.0051	0.0010	0.0041	0.0041	0.0045	0.0036	0.0064	0.0038	0.0037	0.0059	0.0057	0.0016	0.0329	0.0031	0.0020	0	0.0018	0	0.0064	0.0028	0.0010	0.175	0.24372	T	0.358	0.57587	T	0.255	0.31319	B	0.071	0.27960	B	0.017996	0.27589	N	0.312698	1	0.21331	N	2.135	0.59519	M	-2.36	0.89071	D	-0.82	0.27876	N	0.358	0.53972	-0.3762	0.72770	T	0.450	0.78455	T	10	0.007952005	0.00181	T	0.286125	0.90402	D	0.527	0.80007	.	.	0.849029446195	0.84758	0.15429102817380136	0.15350	0.351719312492	0.37009	0.252207577229	0.04004	T	0.185094	0.53796	T	-0.150285	0.28267	T	0.0176056	0.71475	D	0.00815700555301208	0.00097	T	0.90161	0.67446	D	0.08395542	0.19409	0.078762874	0.17672	0.06657545	0.14336	0.088083625	0.20515	-3.011	0.10629	T	0.4744641287373242	0.55430	0.118	0.24226	B	.;.;.;.	.;.;.;.	2.263087	0.28918	17.95	0.99127449213642682	0.53169	0.64987	0.32587	D	AEFDBI	0.334199	0.43304	N	-0.344752951647033	0.27465	1.507092	-0.293686868165548	0.28305	1.577321	0.893887537960173	0.25916	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.19	2.98	0.33575	1.192000	0.31759	0.577000	0.19666	0.665000	0.62972	0.992000	0.37556	0.672000	0.26072	0.779000	0.36868	0.0:0.0819:0.1624:0.7557	6.180	0.19678	520	0.74355	.;.;.;.	.	.	.	.	.	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	1580.98	41	chr17	43091492	.	T	C	1580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.253e+00;DP=1251;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=1.69;SOR=0.629	GT:AD:DP:GQ:PL	0/1:50,61:111:99:1595,0,1275	20	0	1	0
chr17	47709136	47709136	G	A	exonic	TBKBP1	.	nonsynonymous SNV	TBKBP1:NM_014726:exon8:c.G1403A:p.G468D,	.	.	418	1102	2	0	0	2	0.000906618	.	.	2335028	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.963	D	0.543	P	0.011	N	0.703	D	0.345	N	.	.	-0.974	T	0.068	T	0.337	2.270	13.55	3.32	1.579	2.029	5.754	0.239	.	.	.	0.0015	0	0.0625	0	.	0.0052	0	0	0.0001876	29	154602	rs775256886	0.0006	0.0006	0.0005	0.0006	0.0006	0.0006	0.0005	0.0005	0.0005	0	0.0006	5.543e-05	0	0.0033	0	0.0005	0.0007	0.0006	0.0010	0.0010	0.0010	0.0011	0.0014	0.0009	0.0008	0.0012	0.0011	7.239e-05	0	0.0003	0	0	0.0045	0	0.0014	0.0005	0.0006	0.049	0.39820	D	0.077	0.42436	T	0.963	0.55692	D	0.543	0.48966	P	0.011325	0.29573	N	0.270973	0.703	0.33441	D	1.1	0.28011	L	.	.	.	-1.34	0.33401	N	0.192	0.21056	-0.9736	0.36431	T	0.068	0.27743	T	9	0.0058056414	0.00130	T	.	.	.	0.239	0.54358	.	.	0.42264334713	0.41881	0.4413664330979873	0.44053	0.490862917705	0.47796	0.881544947624	0.94168	D	0.025936	0.19295	T	-0.383429	0.02964	T	-0.32691	0.41813	T	0.0356503401053711	0.02920	T	0.50325	0.15827	T	0.11147152	0.26341	0.13702852	0.32765	0.11147152	0.26341	0.13702852	0.32764	-4.267	0.27712	T	.	.	0.213	0.44201	B	.	.	3.236578	0.44165	21.9	0.9953256374132502	0.69963	0.75411	0.36921	D	AEFDBIJ	0.127172	0.24442	N	-0.00931878525804322	0.41433	2.478175	-0.0283002919643793	0.38443	2.264921	0.999856974192074	0.44174	0.652421	0.48094	0	0.588066	0.40923	0	0.64067	0.45733	0	0.491896	0.07777	0	.	.	3.32	3.32	0.37134	1.861000	0.39078	9.189000	0.79120	0.564000	0.28548	0.962000	0.33725	1.000000	0.68203	0.144000	0.20092	0.2452:0.0:0.7548:0.0	5.754	0.17428	414	0.81871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	583.98	33	chr17	47709136	.	G	A	583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.870e-01;DP=637;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-8.460e-01;SOR=0.751	GT:AD:DP:GQ:PL	0/1:17,25:42:99:598,0,430	20	0	1	0
chr17	48121356	48121356	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C637A:p.P213T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.001	B	0.001	B	0.519	N	1.000	N	1.39	L	-0.11	T	-0.942	T	0.149	T	0.222	2.276	13.57	1.38	0.459	0.170	3.471	0.043	0.0159330116532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.72154	D	0.047	0.48855	D	0.0	0.02946	B	0.001	0.04355	B	0.519184	0.11761	N	0.791293	1	0.08975	N	0.83	0.20963	L	-0.12	0.64630	T	-2.48	0.54059	N	0.051	0.07535	-0.9422	0.42266	T	0.149	0.47646	T	10	0.05349794	0.05550	T	0.015933	0.36930	T	0.043	0.11576	0.245	0.17984	0.484037581386	0.48037	0.20804343813926002	0.20720	0.119574652239	0.13463	0.277193725109	0.07105	T	0.018771	0.15074	T	-0.154878	0.27551	T	-0.460248	0.26572	T	0.0746949621828903	0.09294	T	0.636336	0.25296	T	0.056769192	0.11213	0.04533935	0.06077	0.056769192	0.11213	0.04533935	0.06077	-4.775	0.34298	T	.	.	0.086	0.10449	B	.;.;.;.;.;.	.;.;.;.;.;.	1.571688	0.20120	14.60	0.88267484273534103	0.17844	0.12360	0.17221	N	AEFBCI	0.058696	0.11030	N	-0.874749041110592	0.11446	0.5523798	-0.865441052805161	0.12917	0.6672158	1.15678767451762E-4	0.05269	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	1.38	0.21262	0.184000	0.16748	-0.242000	0.10582	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.702000	0.34203	0.1396:0.5611:0.1359:0.1634	3.471	0.07134	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	183.11	33	chr17	48121356	.	C	A	183.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.254e+00;DP=1038;ExcessHet=0.1072;FS=125.490;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.50;ReadPosRankSum=2.61;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,16:172:72:0|1:48121356_C_A:72,0,6266:48121356	19	0	2	0
chr17	48121357	48121357	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C638A:p.P213H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.043	B	0.01	B	0.519	N	1.000	N	1.39	L	-0.16	T	-0.860	T	0.190	T	0.245	3.061	16.22	4.07	1.609	0.183	11.497	0.103	0.0380915237209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.006	0.70582	D	0.003	0.11197	B	0.006	0.12133	B	0.519184	0.11761	N	0.791293	1	0.08975	N	1.525	0.38595	L	-0.16	0.65378	T	-1.8	0.42384	N	0.072	0.07811	-0.8604	0.51234	T	0.190	0.54108	T	10	0.08495718	0.14292	T	0.038092	0.58018	D	0.103	0.29403	0.238	0.16912	0.628906646486	0.62587	0.19977760881024514	0.19894	0.348915321359	0.36754	0.285802483559	0.08314	T	0.020125	0.15899	T	-0.0926007	0.37648	T	-0.370791	0.36796	T	0.627367913722992	0.37509	D	0.654835	0.26791	T	0.122885406	0.28868	0.19311786	0.42863	0.122885406	0.28867	0.19311786	0.42862	-5.551	0.42342	T	.	.	0.126	0.26731	B	.;.;.;.;.;.	.;.;.;.;.;.	2.348791	0.30108	18.34	0.98115172472137657	0.38383	0.09630	0.15343	N	AEFBCI	0.042106	0.06491	N	-0.555678256585635	0.20306	1.069478	-0.525915723664836	0.21451	1.160465	0.00168031574263526	0.08770	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	4.07	0.46726	0.201000	0.17074	1.213000	0.24921	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.687000	0.33748	0.3268:0.6732:0.0:0.0	11.497	0.49664	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	183.11	33	chr17	48121357	.	C	A	183.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.150e-01;DP=1039;ExcessHet=0.1072;FS=125.490;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.50;ReadPosRankSum=2.58;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,16:172:72:0|1:48121356_C_A:72,0,6266:48121356	19	0	2	0
chr17	50684024	50684024	A	G	exonic	ABCC3	.	nonsynonymous SNV	ABCC3:NM_003786:exon28:c.A4030G:p.K1344E,	.	.	412	1101	9	0	0	9	0.00407056	.	.	727288	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.005	B	0.012	N	0.999	N	-0.085	N	-3.1	D	-0.689	T	0.403	T	0.106	-0.263	2.739	2.06	0.656	1.360	7.713	0.226	0.0163037891783	0.0005	0.000998403	0.0015	9.649e-05	0.0009	0	0	0.0008	0	0.0071	0.0012807	198	154602	rs150601692	0.0008	0.0008	0.0006	0.0010	0.0073	0.0007	0.0007	0.0069	0.0067	5.988e-05	0.0009	0.0069	0	0	0.0019	0.0002	0.0012	0.0073	0.0005	0.0005	0.0006	0.0005	0.0031	0.0005	0.0004	0.0019	0.0016	0.0001	0	0.0009	0.0058	0	0	0	0.0004	0	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	0.012046	0.29308	N	0.385040	1	0.08975	N	-0.89	0.01422	N	-3.1	0.92667	D	1.32	0.00925	N	0.087	0.06454	-0.6892	0.60945	T	0.403	0.75374	T	10	0.0060821474	0.00137	T	0.016304	0.37489	T	0.226	0.52472	.	.	0.559310644637	0.55592	0.4723890345879636	0.47157	0.217223232135	0.24242	0.277645945549	0.07166	T	0.174411	0.52362	T	-0.413208	0.01893	T	-0.362036	0.37817	T	0.008964396830968	0.00112	T	0.746025	0.36642	T	0.11902573	0.28033	0.07449888	0.16304	0.11902573	0.28033	0.07449888	0.16304	-0.851	0.00848	T	.	.	0.054	0.00303	B	.	.	1.029159	0.14089	10.66	0.4518754786010718	0.03528	0.03985	0.09401	N	AEFDBHCI	0.189402	0.31666	N	-1.11157312016442	0.06436	0.2962772	-0.986852560017786	0.10080	0.5054526	0.999985598095602	0.51787	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.567892	0.33627	0	.	.	5.24	2.06	0.25932	1.457000	0.34822	2.000000	0.30117	-0.137000	0.12594	0.003000	0.16062	0.960000	0.29291	0.977000	0.56843	0.2169:0.1322:0.6509:0.0	7.713	0.27855	882	0.29131	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	1286.98	34	chr17	50684024	.	A	G	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.390e-01;DP=838;ExcessHet=0.0000;FS=2.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=0.515;SOR=0.791	GT:AD:DP:GQ:PL	0/1:58,54:112:99:1301,0,1481	20	0	1	0
chr17	50699525	50699525	A	G	exonic	ANKRD40	.	nonsynonymous SNV	ANKRD40:NM_052855:exon3:c.T652C:p.S218P,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.006	B	0.005	B	0.131	N	1.000	N	-0.345	N	1.94	T	-1.020	T	0.007	T	0.132	1.468	10.86	2.86	0.863	1.299	1.469	0.042	.	0.0008	0.00758786	0.0054	0.0010	0.0320	0.0290	0	0.0002	0.0044	0.0001	0.0048706	753	154602	rs142677234	0.0021	0.0021	0.0023	0.0020	0.0418	0.0021	0.0021	0.0401	0.0395	0.0004	0.0273	3.826e-05	0.0418	0	0.0002	0.0001	0.0014	0.0002	0.0022	0.0022	0.0020	0.0024	0.0307	0.0020	0.0019	0.0268	0.0253	0.0008	0	0.0078	0	0.0307	0	0	0.0002	0.0019	0.0012	0.309	0.14064	T	0.3	0.20357	T	0.006	0.13644	B	0.005	0.11217	B	0.131000	0.18639	N	0.572025	1	0.08975	N	0.55	0.14455	N	1.94	0.22678	T	-0.03	0.07444	N	0.318	0.35832	-1.0198	0.23780	T	0.007	0.02244	T	10	0.002810359	0.00044	T	.	.	.	0.042	0.11227	.	.	0.0762999501168	0.06990	0.331465384315282	0.33059	0.373130535319	0.38784	0.47111082077	0.34834	T	0.004269	0.03680	T	-0.628763	0.00097	T	-0.629615	0.10444	T	0.00453025773363421	0.00048	T	0.657134	0.26688	T	0.038579755	0.05166	0.07057054	0.15008	0.038579755	0.05166	0.07057054	0.15008	-2.913	0.09274	T	.	.	0.071	0.03773	B	.	.	2.266156	0.28962	17.97	0.98939934627955162	0.48921	0.09326	0.15105	N	ALL	0.062019	0.11895	N	-0.638960625387119	0.17782	0.9179925	-0.481256626516533	0.22671	1.232507	0.999999994372576	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.17	2.86	0.32427	0.481000	0.21969	6.127000	0.53864	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.991000	0.66497	0.3765:0.2815:0.0821:0.2599	1.469	0.02266	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1934.98	34	chr17	50699525	.	A	G	1934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.506e+00;DP=852;ExcessHet=0.0000;FS=3.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.138;SOR=0.531	GT:AD:DP:GQ:PL	0/1:69,82:151:99:1949,0,1801	20	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	YES	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.639	25.4	5.44	2.535	7.487	19.245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	576.98	48	chr17	61968034	.	C	G	576.98	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-9.620e-01;DP=1240;ExcessHet=7.7275;FS=188.533;InbreedingCoeff=-0.4183;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.939;SOR=11.843	GT:AD:DP:GQ:PL	0/1:36,26:67:99:106,0,473	8	0	11	2
chr17	63941038	63941038	C	G	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon24:c.G5244C:p.K1748N,	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.918	D	0.001	N	0.981	D	3.07	M	-4.04	D	1.043	D	0.927	D	0.189	3.234	16.84	3.89	2.180	0.319	9.244	0.580	0.303557141155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.468e-05	0.0004	3.138e-05	1.791e-05	5.983e-05	1.807e-05	1.604e-05	2.122e-05	1.866e-05	5.983e-05	0	0	2.52e-05	0	0	2.975e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.996	0.68779	D	0.918	0.65394	D	0.001323	0.39379	N	0.266717	0.981377	0.39770	D	3.46	0.92336	M	-4.04	0.96465	D	-2.91	0.60982	D	0.415	0.45520	1.043	0.97979	D	0.927	0.97601	D	10	0.6123196	0.67513	D	0.303557	0.90961	D	0.580	0.83081	0.384	0.40298	0.898534176303	0.89752	0.5995780334703891	0.59888	0.692431633833	0.60665	0.752315163612	0.74788	T	0.685387	0.90803	D	0.120235	0.66394	D	-0.0650671	0.65976	T	0.989463925361633	0.79699	D	0.831017	0.49766	T	0.7440135	0.80523	0.5270589	0.72675	0.7440135	0.80524	0.5270589	0.72675	-7.785	0.59595	D	0.2770756796120702	0.37175	0.930	0.85031	P	.	.	3.060384	0.41100	21.3	0.99839407367986555	0.91972	0.85331	0.44454	D	AEFDBI	0.586077	0.58426	D	0.579656383859094	0.71907	5.72267	0.473874561743895	0.66263	4.929493	0.870675316718076	0.25410	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.89	3.89	0.44098	0.425000	0.21065	0.146000	0.15234	0.599000	0.40250	0.993000	0.37899	0.937000	0.28687	0.926000	0.46234	0.0:0.9002:0.0:0.0998	9.244	0.36672	834	0.38640	IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	416.88	220	chr17	63941038	.	C	G	416.88	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-5.194e+00;DP=3372;ExcessHet=1.7912;FS=313.201;InbreedingCoeff=-0.3107;MLEAC=8;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=0.282;SOR=13.047	GT:AD:DP:GQ:PL	0/1:145,64:209:99:120,0,2807	8	0	6	7
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	1/1:0,78,0:78:99:3448,233,0,3449,235,3451	14	1	5	0
chr17	73232240	73232240	G	C	exonic	FAM104A	.	nonsynonymous SNV	FAM104A:NM_001098832:exon1:c.C67G:p.P23A	.	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.705	P	0.359	B	.	.	0.843	N	0	N	0.55	T	-1.061	T	0.062	T	0.486	2.525	14.40	3.01	0.690	3.807	6.088	0.156	0.0417095240966	0.0044	0.00239617	0.0039	0.0018	0.0019	0	0.0003	0.0062	0.0062	0.0013	0.0038098	589	154602	rs180917408	0.0058	0.0058	0.0059	0.0058	0.0141	0.0057	0.0057	0.0116	0.0107	0.0010	0.0024	0.0025	2.523e-05	0.0005	0.0141	0.0070	0.0048	0.0016	0.0039	0.0040	0.0043	0.0036	0.0065	0.0037	0.0036	0.0060	0.0058	0.0015	0	0.0045	0.0020	0	0.0003	0.0136	0.0065	0.0043	0.0004	0.108	0.29420	T	0.091	0.49942	T	0.705	0.41986	P	0.359	0.43123	B	.	.	.	.	0.842808	0.28607	N	0.805	0.20218	L	0.55	0.58176	T	-0.7	0.21644	N	0.412	0.48504	-1.0613	0.11434	T	0.062	0.25672	T	9	0.007984251	0.00181	T	0.04171	0.60073	D	0.156	0.40720	.	.	0.46763814438	0.46390	0.166938773126972	0.16613	0.370701444111	0.38581	0.722039461136	0.70343	T	0.027087	0.40233	T	-0.356881	0.04309	T	-0.282522	0.46546	T	0.066659530329254	0.08175	T	0.662834	0.41282	T	0.0840635	0.19440	0.12637298	0.30437	0.0840635	0.19439	0.12637298	0.30436	-2.866	0.08828	T	.	.	0.064	0.11845	B	.;.;.;.	.;.;.;.	4.039256	0.59786	24.1	0.98713176618007037	0.45083	0.66195	0.32994	D	AEFGBHCIJ	0.134599	0.25467	N	-0.387578163074751	0.25910	1.410121	-0.368279065433257	0.25948	1.43021	0.999999999999999	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.0	3.01	0.33872	4.367000	0.59270	6.267000	0.55357	0.651000	0.53179	0.985000	0.35982	1.000000	0.68203	0.965000	0.52897	0.094:0.0:0.7203:0.1857	6.088	0.19200	416	0.81733	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1211.98	33	chr17	73232240	.	G	C	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.699;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.38;ReadPosRankSum=-1.304e+00;SOR=0.676	GT:AD:DP:GQ:PL	0/1:28,46:74:99:1226,0,663	20	0	1	0
chr17	74352090	74352090	G	A	exonic	KIF19	.	nonsynonymous SNV	KIF19:NM_153209:exon13:c.G1811A:p.R604H,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.911	D	.	.	0.986	D	2.25	M	-0.93	T	0.023	D	0.543	D	0.44	3.432	17.61	3.36	0.653	5.751	9.491	0.454	0.11274867132	.	.	6.275e-05	0	0	0	0	6.635e-05	0	0.0002	3.88e-05	6	154602	rs751181401	4.804e-05	5.746e-05	4.557e-05	5.057e-05	0.0014	3.861e-05	3.538e-05	0.0007	0.0005	0	0	0	0	0	0.0014	4.548e-05	5.07e-05	9.498e-05	3.943e-05	3.94e-05	5.14e-05	2.69e-05	8.822e-05	1.715e-05	1.129e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.822e-05	0	0	0.005	0.68238	D	0.007	0.72224	D	1.0	0.90584	D	0.911	0.64720	D	.	.	.	.	0.986212	0.40398	D	2.25	0.63811	M	-1.07	0.76948	T	-3.44	0.67477	D	0.501	0.53357	0.023	0.82713	D	0.543	0.83185	D	9	0.6966524	0.72186	D	0.112749	0.79101	D	0.454	0.75347	.	.	0.866393452379	0.86509	0.5082054158008243	0.50742	0.692638023041	0.60672	0.696526288986	0.66643	T	0.161279	0.50546	T	-0.0738029	0.40718	T	-0.157252	0.58598	T	0.64294707775116	0.38162	D	0.937906	0.76702	D	0.22547206	0.45209	0.34943947	0.60568	0.22547206	0.45209	0.34943947	0.60568	-7.243	0.55789	T	.	.	0.113	0.22171	B	.;.	.;.	4.856349	0.79421	27.1	0.99787611174535229	0.87396	0.80297	0.39972	D	AEFDGBHCI	0.733681	0.68004	D	0.180758678058837	0.50275	3.219167	0.0709012440406634	0.43093	2.618277	0.999999896685694	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.36	3.36	0.37579	6.297000	0.72735	8.721000	0.78162	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0759:0.0:0.7811:0.1429	9.491	0.38121	777	0.48198	.;.	.	.	.	.	.	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	1350.98	33	chr17	74352090	.	G	A	1350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.250e-01;DP=796;ExcessHet=0.0000;FS=0.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=-3.860e-01;SOR=0.585	GT:AD:DP:GQ:PL	0/1:36,55:91:99:1365,0,835	20	0	1	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACCTACGGAGCCCATGGAACC:p.P33_A34insTEPMEPTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:28,0,0,15,0:43:99:0|1:74893497_C_CGGTTCCATGGGCTCCGTA:501,598,1631,598,1631,1631,0,1033,1033,988,598,1631,1631,1033,1631:74893497	12	1	1	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACC:p.P33_A34insTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:28,0,0,15,0:43:99:0|1:74893497_C_CGGTTCCATGGGCTCCGTA:501,598,1631,598,1631,1631,0,1033,1033,988,598,1631,1631,1033,1631:74893497	12	1	1	0
chr17	74893497	74893497	-	CATGGGCTCCGTA	exonic	FADS6	.	frameshift insertion	FADS6:NM_178128:exon1:c.98_99insTACGGAGCCCATG:p.A34Tfs*256,	.	.	429	803	98	141	51	431	0.191339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	7.691e-05	0.0002	0.0011	0.0001	9.685e-05	0.0005	0.0003	3.3e-05	2.49e-05	0.0008	0	0.0009	0.0011	4.107e-05	0.0002	0.0005	0.0003	0.0003	0.0003	0.0004	0.0018	0.0002	0.0002	0.0009	0.0006	9.334e-05	0	8.304e-05	0	0	0.0013	0	0.0003	0.0006	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:28,0,0,15,0:43:99:0|1:74893497_C_CGGTTCCATGGGCTCCGTA:501,598,1631,598,1631,1631,0,1033,1033,988,598,1631,1631,1033,1631:74893497	12	1	1	0
chr17	75991600	75991600	T	A	exonic	TEN1	.	nonsynonymous SNV	TEN1:NM_001113324:exon3:c.T227A:p.L76H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.001	U	1.000	D	1.845	L	.	.	-0.111	T	0.333	T	0.9	3.311	17.13	5.2	2.096	5.276	13.581	0.492	0.0438968889457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000765	0.41888	U	0.000000	0.66037	0.81001	D	2.83	0.82355	M	.	.	.	-6.26	0.90608	D	0.886	0.88466	-0.1105	0.79856	T	0.333	0.70043	T	9	0.88374996	0.87694	D	0.043897	0.61216	D	0.492	0.77847	.	.	0.245101548738	0.24120	0.8828770626978398	0.88255	.	.	.	.	.	0.332305	0.70229	T	0.406376	0.90279	D	0.345954	0.90157	D	0.956735193729401	0.64832	D	.	.	.	0.7579091	0.81330	0.7047212	0.82594	0.7579091	0.81331	0.7047212	0.82595	-9.763	0.72480	D	.	.	0.826	0.78536	P	.	.	3.768015	0.54107	23.4	0.98426456276621321	0.41343	0.95243	0.63969	D	AEFDBI	0.579945	0.58055	D	0.540927760007335	0.69532	5.370235	0.483115440172343	0.66872	5.008867	0.975243016747257	0.29615	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	4.872000	0.62744	7.538000	0.60033	0.609000	0.47794	0.615000	0.27871	1.000000	0.68203	0.209000	0.22154	0.0:0.0:0.0:1.0	13.581	0.61367	718	0.55760	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1768.98	44	chr17	75991600	.	T	A	1768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.962e+00;DP=858;ExcessHet=0.0000;FS=4.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-1.633e+00;SOR=0.366	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1783,0,1700	20	0	1	0
chr17	76017851	76017851	C	T	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon14:c.G1664A:p.R555Q	.	.	423	1098	1	0	0	1	0.000455166	.	.	2347886	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.022	B	0.002	B	0.376	N	1.000	N	0.35	N	0.01	T	-0.980	T	0.092	T	0.055	0.827	8.333	-2.89	-0.429	-0.061	12.188	0.042	0.0132275582795	0.0003	.	0.0002	0.0002	8.663e-05	0.0001	0.0002	0.0001	0	0.0010	0.000194	30	154602	rs148670879	0.0001	0.0001	9.802e-05	0.0001	0.0006	9.536e-05	9.017e-05	0.0005	0.0005	5.974e-05	0.0001	0	7.557e-05	1.877e-05	0.0005	6.834e-05	0.0002	0.0006	9.196e-05	9.193e-05	0.0001	8.066e-05	0.0003	5.526e-05	4.363e-05	8.874e-05	5.384e-05	2.412e-05	0	0.0003	0	0	0	0	0.0001	0	0	0.518	0.07307	T	0.715	0.05434	T	0.008	0.14655	B	0.002	0.06944	B	0.375595	0.13463	N	0.714751	1	0.08975	N	-0.205	0.04094	N	0.01	0.62762	T	-0.31	0.12099	N	0.136	0.16586	-0.9795	0.35117	T	0.092	0.35201	T	10	0.020521015	0.00474	T	0.013228	0.32470	T	0.042	0.11227	.	.	0.314716216878	0.31082	0.055409354603118376	0.05481	0.21452012786	0.23985	0.193342387676	0.00290	T	0.08595	0.37616	T	-0.573556	0.00211	T	-0.64709	0.09160	T	0.00685284080327761	0.00077	T	0.490951	0.18022	T	0.028963035	0.02316	0.054091576	0.09236	0.028963035	0.02316	0.054091576	0.09236	-3.248	0.13076	T	.	.	0.063	0.03811	B	.;.	.;.	-0.000635	0.04276	1.068	0.93347027460177623	0.23079	0.07511	0.13526	N	AEFDBI	0.099232	0.19980	N	-1.23065619054583	0.04561	0.2061006	-1.14969600624976	0.06773	0.327179	0.00174666228405931	0.08839	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.88	-2.89	0.05326	0.054000	0.14087	-6.289000	0.01441	-2.004000	0.00446	0.000000	0.06391	0.000000	0.08366	0.635000	0.32288	0.0:0.4638:0.0:0.5362	12.188	0.53561	700	0.57880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	673.98	34	chr17	76017851	.	C	T	673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.566e+00;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=2.10;SOR=0.759	GT:AD:DP:GQ:PL	0/1:35,32:67:99:688,0,862	20	0	1	0
chr17	78125771	78125771	G	A	exonic	TMC6	.	nonsynonymous SNV	TMC6:NM_001127198:exon5:c.C385T:p.R129C	Epidermodysplasia verruciformis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.705	P	0.134	B	.	.	1.000	D	2.045	M	0.54	T	-0.811	T	0.132	T	0.7	2.252	13.49	3.03	1.797	2.714	9.868	0.214	0.286211315694	.	.	4.244e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs771251537	1.201e-05	2.463e-05	1.119e-05	1.286e-05	0.0002	7.32e-06	5.98e-06	8.898e-05	6.269e-05	0	2.593e-05	0	0.0002	0	0	4.594e-06	1.707e-05	3.73e-05	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0002	2.107e-05	1.526e-05	1.171e-05	6.25e-06	4.81e-05	0	0	0	0.0002	0	0	4.41e-05	0	0.0002	0.006	0.72154	D	0.095	0.76473	T	0.182	0.41986	B	0.018	0.33146	B	.	.	.	.	0.999945	0.81001	D	2.115	0.58683	M	0.54	0.54911	T	-3.8	0.79229	D	0.651	0.66443	-0.8115	0.54460	T	0.132	0.44445	T	9	0.5306772	0.63165	D	0.286211	0.90405	D	0.214	0.50650	0.69	0.82748	0.407357902709	0.40350	0.6327032102732578	0.63204	0.265866858698	0.29137	0.640848338604	0.58685	T	0.129709	0.48659	T	0.0850667	0.62629	D	-0.115584	0.62163	T	0.299395650625229	0.24978	T	0.917308	0.70348	D	0.2511442	0.48121	0.18166097	0.41044	0.2511442	0.48121	0.18166097	0.41043	-6.0	0.46280	T	.	.	0.104	0.26482	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.671030	0.74647	26.2	0.99782416392012241	0.86867	0.86740	0.46086	D	AEFDBHCI	0.733042	0.67961	D	-0.0510571197288646	0.39556	2.33451	-0.0440903592110355	0.37746	2.214331	0.999999998939079	0.74766	0.695654	0.57023	0	0.672317	0.65289	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.02	3.03	0.34070	3.484000	0.52965	8.152000	0.76714	0.674000	0.70861	0.927000	0.32177	1.000000	0.68203	0.484000	0.28656	0.1012:0.0:0.8988:0.0	9.868	0.40323	846	0.36215	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1757.98	38	chr17	78125771	.	G	A	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.780e-01;DP=934;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-7.250e-01;SOR=0.613	GT:AD:DP:GQ:PL	0/1:80,76:156:99:1772,0,1860	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	1|1:10,102,0:112:99:1|1:80090158_A_G:2635,147,0,2665,271,2789:80090158	1	6	9	4
chr17	80344886	80344886	A	G	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon29:c.A6551G:p.Q2184R,	.	.	0	1498	23	1	0	25	0.00827541	.	.	715797	RNF213-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.83	T	0.0	B	0.0	B	0.614	N	1.000	N	0.365	N	1.95	T	-0.964	T	0.020	T	0.07	-0.450	1.915	-0.534	-0.163	-0.548	2.551	0.030	0.00360495360684	0.0022	0.00159744	0.0024	0.0004	0.0018	0	0.0002	0.0031	0.0066	0.0028	0.0024579	380	154602	rs138595111	0.0038	0.0038	0.0037	0.0038	0.0099	0.0037	0.0036	0.0078	0.0071	0.0007	0.0017	0.0030	0	0.0006	0.0099	0.0042	0.0046	0.0029	0.0025	0.0025	0.0028	0.0023	0.0040	0.0023	0.0022	0.0036	0.0034	0.0007	0	0.0033	0.0032	0	0.0004	0.0170	0.0040	0.0033	0.0023	0.832	0.02869	T	0.895	0.03099	T	.	.	.	.	.	.	0.613810	0.10841	N	0.817583	1	0.08975	N	.	.	.	1.95	0.22474	T	-1.44	0.35399	N	0.043	0.01577	-0.9635	0.38507	T	0.020	0.08546	T	10	0.017392218	0.00371	T	0.003605	0.08247	T	0.030	0.07022	.	.	0.117506650769	0.11410	.	.	0.351483973545	0.36988	0.241480603814	0.02925	T	0.02384	0.18124	T	-0.666409	0.00058	T	-0.728522	0.04395	T	0.00173518910473408	0.00018	T	0.435856	0.11948	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03093	B	.;.	.;.	-0.353405	0.02393	0.265	0.4294536971338907	0.03200	0.09017	0.14855	N	AEFDBI	0.052287	0.09317	N	-1.21672145797293	0.04757	0.2153734	-1.20906142747402	0.05764	0.2755305	5.79141037353422E-4	0.07363	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.57	-0.534	0.11289	-0.528000	0.06280	-1.396000	0.05538	-0.042000	0.17409	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3959:0.1262:0.3553:0.1226	2.551	0.04459	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1667.98	33	chr17	80344886	.	A	G	1667.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.499e+00;DP=821;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-5.570e-01;SOR=0.609	GT:AD:DP:GQ:PL	0/1:67,68:135:99:1682,0,1737	20	0	1	0
chr17	81528871	81528871	A	G	exonic	FSCN2	.	nonsynonymous SNV	FSCN2:NM_001077182:exon1:c.A340G:p.T114A	Retinitis pigmentosa 30	.	0	1516	6	0	0	6	0.00197498	.	.	741204	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.026	B	0.022	B	0.015	N	0.852	N	1.845	L	1.96	T	-1.059	T	0.040	T	0.036	1.194	9.854	0.445	0.189	0.900	3.101	0.012	0.00514806509797	0.0008	0.000199681	0.0016	0.0008	0.0021	0	0.005	0.0029	0	0.0004	0.0005304	82	154602	rs202158770	0.0009	0.0009	0.0009	0.0009	0.0032	0.0009	0.0009	0.0020	0.0017	0.0002	0.0008	0	0	0.0001	0.0032	0.0011	0.0008	0.0003	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0008	0.0001	0	0.0006	0	0	9.409e-05	0	0.0010	0.0014	0.0004	0.006	0.61437	D	0.193	0.28210	T	0.0	0.02946	B	0.0	0.01387	B	0.015295	0.28288	N	0.362200	0.851906	0.28484	N	1.1	0.28011	L	1.96	0.22270	T	-2.19	0.49352	N	0.065	0.13055	-1.0587	0.12083	T	0.040	0.17234	T	10	0.012120903	0.00262	T	0.005148	0.13094	T	0.012	0.01476	.	.	0.373897652646	0.36997	0.23596444462120333	0.23511	0.0716247494245	0.08021	0.516877174377	0.41187	T	0.25221	0.62256	T	-0.604322	0.00137	T	-0.686395	0.06600	T	0.0106476187211481	0.00149	T	0.779122	0.41282	T	0.11139031	0.26323	0.09344192	0.22070	0.11139031	0.26323	0.09344192	0.22069	-7.97	0.61071	D	0.12783891521311308	0.13153	0.068	0.02829	B	.;.	.;.	1.866161	0.23708	16.12	0.86445948207584411	0.16541	0.51350	0.28875	D	AEFDBCI	0.101337	0.20356	N	-0.654054616540187	0.17343	0.8915816	-0.682873457787928	0.17389	0.9244013	0.999979095664184	0.50053	0.660377	0.49826	0	0.694456	0.67091	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	4.32	0.445	0.15808	0.894000	0.27983	3.603000	0.39228	0.686000	0.82685	0.483000	0.26824	1.000000	0.68203	0.304000	0.24594	0.4601:0.0:0.2214:0.3185	3.101	0.05946	.	.	Fascin domain|Fascin 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	826.98	34	chr17	81528871	.	A	G	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.098;DP=911;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-2.200e-02;SOR=0.673	GT:AD:DP:GQ:PL	0/1:52,35:87:99:841,0,1381	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	1/2:3,267,197:467:99:.:.:15020,7992,9324,7472,0,9481	3	2	4	0
chr18	26057676	26057676	G	A	exonic	SS18	.	nonsynonymous SNV	SS18:NM_001007559:exon4:c.C298T:p.R100C	Sarcoma, synovial (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.999	D	0.818	P	0.000	D	1.000	D	0.69	N	1.44	T	-1.029	T	0.122	T	0.633	2.448	14.15	5.32	2.773	9.242	19.198	0.200	0.013112774546	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149811250	2.052e-06	2.052e-06	4.084e-06	0	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	0.0001	5.24e-06	2.45e-06	2.261e-05	9.07e-06	2.414e-05	0	0.0001	0	0	0	0	0	0	0	0.003	0.72154	D	0.055	0.47336	T	0.999	0.77913	D	0.818	0.58969	P	0.000002	0.62929	D	0.107658	1	0.81001	D	1.1	0.28011	L	1.44	0.32722	T	-2.21	0.52289	N	0.683	0.70263	-1.0293	0.20681	T	0.122	0.42314	T	10	0.331862	0.50401	T	0.013113	0.32253	T	0.200	0.48430	.	.	0.0934897674506	0.08844	0.3101445041467752	0.30927	0.865720568616	0.69199	0.450907945633	0.32068	T	0.336766	0.70623	T	0.0281117	0.55472	T	-0.197396	0.54894	T	0.891956269741058	0.54298	D	0.954105	0.82551	D	0.26368293	0.49434	0.21599853	0.46211	0.26368293	0.49434	0.21599853	0.46210	-2.752	0.07955	T	.	.	0.175	0.38300	B	.;.;.;.;.	.;.;.;.;.	5.714926	0.93194	33	0.98036028320958046	0.37751	0.97212	0.73352	D	AEFDBCIJ	0.970195	0.99249	D	0.531763577098098	0.68978	5.292353	0.60079880982415	0.74997	6.233415	1.0	0.98316	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	9.602000	0.97623	11.832000	0.97554	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.784000	0.37066	0.0:0.0:1.0:0.0	19.198	0.93684	954	0.10045	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	870.98	34	chr18	26057676	.	G	A	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.449;DP=783;ExcessHet=0.0000;FS=4.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=0.700;SOR=1.179	GT:AD:DP:GQ:PL	0/1:55,38:93:99:885,0,1372	20	0	1	0
chr18	31354330	31354330	C	T	exonic	DSG1	.	nonsynonymous SNV	DSG1:NM_001942:exon15:c.C2134T:p.R712C,	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, Autosomal recessive;Keratosis palmoplantaris striata I, AD, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	715931	DSG1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	1.87	L	-1.06	T	0.193	D	0.587	D	0.924	2.583	14.60	5.1	2.873	3.324	17.227	0.551	0.055254717874	0.0005	0.00119808	0.0017	0.0007	0.0095	0.0040	0.0005	0.0006	0	0.0006	0.0015459	239	154602	rs149191001	0.0011	0.0011	0.0012	0.0010	0.0080	0.0011	0.0011	0.0073	0.0071	0.0003	0.0080	3.826e-05	0.0026	0.0006	0.0005	0.0009	0.0008	0.0007	0.0012	0.0012	0.0011	0.0012	0.0043	0.0010	0.0010	0.0029	0.0024	0.0005	0	0.0031	0	0.0043	0.0012	0	0.0010	0.0019	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000004	0.62929	D	0.000000	0.999993	0.58761	D	2.285	0.65182	M	-1.06	0.76819	T	-5.6	0.86608	D	0.594	0.80572	0.193	0.85781	D	0.587	0.85184	D	10	0.011037976	0.00243	T	0.055255	0.66166	D	0.551	0.81427	.	.	0.925294171032	0.92453	0.6892350143534115	0.68863	0.488873001158	0.47673	0.676832437515	0.63816	T	0.214893	0.57661	T	0.0217508	0.54617	T	0.265148	0.86335	D	0.0434598145851397	0.04322	T	0.933007	0.74900	D	0.79619676	0.83664	0.7688245	0.86348	0.8042928	0.84183	0.76486576	0.86111	-7.291	0.56131	T	0.5462089648290672	0.61530	0.355	0.56895	A	.;.	.;.	5.270927	0.88506	29.6	0.9718009208284738	0.32718	0.90315	0.51393	D	AEFBI	0.493909	0.52993	N	0.70649537951855	0.80060	7.210943	0.705178510884434	0.82773	7.850554	0.999718568556344	0.42101	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.04	5.1	0.68917	3.349000	0.51931	6.069000	0.53240	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	0.1875:0.8125:0.0:0.0	17.227	0.86856	527	0.73864	Cadherin, cytoplasmic domain;.	.	.	.	.	.	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	1503.98	33	chr18	31354330	.	C	T	1503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.691;DP=790;ExcessHet=0.0000;FS=1.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=-7.200e-02;SOR=0.964	GT:AD:DP:GQ:PL	0/1:45,56:101:99:1518,0,1132	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	0/1:221,50:271:99:.:.:296,0,7340	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	0/1:221,28:267:99:.:.:112,0,7450	16	0	5	0
chr18	48252446	48252446	C	G	exonic	C18orf12	.	nonsynonymous SNV	C18orf12:NM_001350280:exon1:c.C146G:p.T49S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00202876021771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07692	105.29	151	chr18	48252446	.	C	G	105.29	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-5.767e+00;DP=3125;ExcessHet=0.1072;FS=202.408;InbreedingCoeff=-0.1780;MLEAC=3;MLEAF=0.115;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=1.62;SOR=11.226	GT:AD:DP:GQ:PL	0/1:133,41:180:15:15,0,3056	11	0	2	8
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|1:63,35:98:99:0|1:65824683_C_G:372,0,1290:65824683	0	0	20	1
chr18	79717562	79717562	A	C	exonic	CTDP1	.	nonsynonymous SNV	CTDP1:NM_001202504:exon9:c.A1739C:p.E580A	Congenital cataracts, facial dysmorphism, and neuropathy, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.029	B	0.025	B	0.001	N	0.541	D	1.04	L	-1.72	D	-0.736	T	0.314	T	0.227	0.396	6.151	-0.292	-0.292	3.030	6.610	0.151	0.0743429357747	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1378586510	6.843e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.40573	T	0.271	0.22291	T	0.003	0.19866	B	0.025	0.20508	B	0.000792	0.41772	N	0.270709	0.540669	0.32051	D	0.53	0.13656	N	-1.72	0.83241	D	-2.57	0.62008	D	0.275	0.31590	-0.7357	0.58673	T	0.314	0.68389	T	10	0.15624717	0.29431	T	0.074343	0.72017	D	0.151	0.39764	0.331	0.31681	0.442295363799	0.43851	0.5940864892022834	0.59338	0.146246402447	0.16512	0.527313768864	0.42656	T	0.157366	0.49994	T	-0.0433272	0.45452	T	-0.300013	0.44723	T	0.115439814180425	0.13979	T	0.761624	0.40374	T	0.069762595	0.15311	0.052957613	0.08829	0.069762595	0.15310	0.052957613	0.08828	-8.064	0.61506	D	.	.	0.083	0.09627	B	.;.;.;.	.;.;.;.	2.113709	0.26901	17.28	0.75374640684252403	0.11050	0.76734	0.37658	D	AEFDBCI	0.208664	0.33472	N	-0.983673549242405	0.08952	0.4217451	-0.931171918545028	0.11361	0.5782711	0.895972737172275	0.25967	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.09	-0.292	0.12204	3.209000	0.50824	6.246000	0.55309	-0.776000	0.03386	1.000000	0.71638	1.000000	0.68203	0.214000	0.22296	0.4908:0.3728:0.1364:0.0	6.610	0.21940	.	.	BRCT domain|BRCT domain|BRCT domain;.;BRCT domain|BRCT domain|BRCT domain;BRCT domain|BRCT domain|BRCT 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	609.98	33	chr18	79717562	.	A	C	609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.477;DP=735;ExcessHet=0.0000;FS=3.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=0.423;SOR=1.353	GT:AD:DP:GQ:PL	0/1:23,21:44:99:624,0,655	20	0	1	0
chr19	374338	374338	A	C	exonic	THEG	.	nonsynonymous SNV	THEG:NM_016585:exon2:c.T392G:p.L131R	.	.	417	1087	17	1	0	19	0.00866393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.999	D	0.124	N	0.724	N	2.175	M	1.4	T	-0.667	T	0.244	T	0.88	1.194	9.851	2.78	1.520	2.083	7.387	0.296	0.0196772225736	7.7e-05	0.000798722	0.0007	0	0.0003	0	0	0.0003	0.0023	0.0033	0.0006274	97	154602	rs150403020	0.0004	0.0004	0.0003	0.0006	0.0042	0.0004	0.0004	0.0030	0.0029	2.987e-05	0.0004	0.0002	0	1.875e-05	0.0042	0.0002	0.0007	0.0033	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	4.81e-05	0	0.0003	0	0.0002	0	0	0.0004	0.0009	0.0021	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.92359	D	0.124233	0.18888	N	0.394822	0.724	0.29896	N	1.1	0.28011	L	0.61	0.53516	T	-4.4	0.77308	D	0.733	0.82660	-0.6667	0.61977	T	0.244	0.61225	T	10	0.06504443	0.08717	T	0.019677	0.42104	T	0.296	0.61616	.	.	0.344017737713	0.34012	0.37290604879744027	0.37204	0.381255657936	0.39490	0.431989133358	0.29480	T	0.684028	0.90750	D	-0.121771	0.32834	T	0.048317	0.73472	D	0.120021722515531	0.14432	T	0.419058	0.27634	T	0.61270934	0.73373	0.59631556	0.76561	0.61270934	0.73374	0.59631556	0.76562	-12.409	0.86786	D	.	.	0.391	0.76335	A	.;.;.	.;.;.	3.950987	0.57877	23.9	0.99626322756997099	0.75776	0.51441	0.28896	D	AEFDBHCI	0.061734	0.11823	N	0.186044295172361	0.50529	3.242036	-0.00821311853346807	0.39343	2.331232	0.602422540010629	0.21737	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.78	2.78	0.31702	0.953000	0.28759	10.568000	0.83440	0.731000	0.85647	0.219000	0.24524	1.000000	0.68203	0.175000	0.21139	1.0:0.0:0.0:0.0	7.387	0.26064	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1336.98	35	chr19	374338	.	A	C	1336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.772e+00;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.86;ReadPosRankSum=0.469;SOR=0.787	GT:AD:DP:GQ:PL	0/1:33,57:90:99:1351,0,803	20	0	1	0
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,39,0,0:41:66:.:.:1615,66,0,1627,117,1679,1627,117,1679,1679	1	10	5	0
chr19	501876	501876	G	A	exonic	MADCAM1	.	nonsynonymous SNV	MADCAM1:NM_130760:exon4:c.G875A:p.R292H,	.	.	438	1062	19	3	0	25	0.0116333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.002	B	0.001	B	0.115	N	1.000	N	0.695	N	2.61	T	-0.997	T	0.021	T	0.134	1.413	10.66	-3.97	-0.608	-0.703	3.463	0.014	.	0.0004	0.00239617	0.0049	0	0.0014	0	0	0.0010	0	0.0135	0.0011319	175	154602	rs200332335	0.0010	0.0010	0.0007	0.0013	0.0087	0.0010	0.0009	0.0081	0.0079	0.0004	0.0004	0	2.797e-05	4.213e-05	0.0073	0.0005	0.0014	0.0087	0.0006	0.0006	0.0006	0.0007	0.0100	0.0005	0.0005	0.0078	0.0070	9.654e-05	0	0.0006	0	0	0	0.0034	0.0005	0.0010	0.0100	0.103	0.30097	T	0.042	0.53426	D	0.002	0.09854	B	0.001	0.04355	B	0.114668	0.02671	N	2.253530	1	0.08975	N	0.695	0.17993	N	2.61	0.13095	T	-0.63	0.18459	N	0.056	0.05037	-0.9974	0.30646	T	0.021	0.08870	T	10	0.0036066473	0.00065	T	.	.	.	0.014	0.01968	.	.	0.0806252709748	0.07271	0.14869288232791517	0.14791	0.562103597048	0.52702	0.186702221632	0.00172	T	0.019228	0.31079	T	-0.676698	0.00050	T	-0.739256	0.03922	T	0.0151887775389658	0.00332	T	0.824517	0.48627	T	0.024933673	0.01376	0.018512215	0.00058	0.024933673	0.01376	0.018512215	0.00058	-3.953	0.23098	T	.	.	0.093	0.13969	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.187974	0.05743	2.189	0.8458847076980146	0.15380	0.00274	0.01486	N	AEFDBI	0.040199	0.05944	N	-1.19802033786692	0.05030	0.2283678	-1.30666015791695	0.04344	0.2046673	0.983301546453494	0.30538	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.3	-3.97	0.03821	-1.871000	0.01732	-14.423000	0.00404	0.650000	0.52971	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2232:0.0:0.2733:0.5035	3.463	0.07106	988	0.01987	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	513.98	38	chr19	501876	.	G	A	513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.695;DP=940;ExcessHet=0.0000;FS=1.037;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=0.753;SOR=0.941	GT:AD:DP:GQ:PL	0/1:30,25:55:99:528,0,630	20	0	1	0
chr19	617466	617466	A	G	exonic	POLRMT	.	nonsynonymous SNV	POLRMT:NM_005035:exon20:c.T3596C:p.L1199S,	.	.	427	1077	18	0	0	18	0.00828729	.	.	728450	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.79	T	0.003	B	0.026	B	0.000	N	1.000	N	0.125	N	0.75	T	-1.024	T	0.042	T	0.093	-0.243	2.829	-5.27	-1.253	-0.629	6.106	0.056	.	0.0047	0.00319489	0.0061	0.0018	0.0059	0	0.0022	0.0090	0.0049	0.0028	0.0057826	894	154602	rs151287767	0.0077	0.0077	0.0078	0.0075	0.0130	0.0075	0.0075	0.0105	0.0096	0.0014	0.0068	0.0052	0	0.0032	0.0130	0.0087	0.0079	0.0033	0.0058	0.0059	0.0061	0.0055	0.0097	0.0055	0.0053	0.0085	0.0080	0.0014	0	0.0097	0.0049	0	0.0033	0.0136	0.0085	0.0109	0.0031	.	.	.	0.445	0.13140	T	0.003	0.11197	B	0.026	0.20792	B	0.000046	0.00387	N	9.009160	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.149	0.15187	-1.0240	0.22410	T	0.042	0.17952	T	10	0.0049084723	0.00105	T	.	.	.	.	.	.	.	0.163833314356	0.15978	0.4567661953493399	0.45594	0.0288100514737	0.02965	0.396012067795	0.24514	T	0.007223	0.06635	T	-0.60466	0.00136	T	-0.63408	0.10107	T	0.000821622846927263	0.00008	T	0.19908	0.02235	T	0.13238767	0.30827	0.1380573	0.32981	0.13238767	0.30827	0.1380573	0.32980	-2.29	0.04501	T	.	.	0.084	0.09868	B	.	.	0.119766	0.05175	1.692	0.31913970483794329	0.01823	0.00796	0.03248	N	AEFDGBHCI	0.015781	0.00318	N	-1.89541605862479	0.00351	0.01507178	-1.96734416740588	0.00358	0.01582588	0.898859477897704	0.26036	0.660377	0.49826	0	0.694456	0.67091	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	2.64	-5.27	0.02551	0.219000	0.17426	-0.050000	0.12557	-0.986000	0.01871	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6335:0.0:0.2206:0.146	6.106	0.19293	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	454.98	35	chr19	617466	.	A	G	454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.444e+00;DP=915;ExcessHet=0.0000;FS=1.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.75;ReadPosRankSum=-9.000e-03;SOR=0.777	GT:AD:DP:GQ:PL	0/1:30,22:52:99:469,0,787	20	0	1	0
chr19	2078473	2078473	C	T	exonic	MOB3A	.	nonsynonymous SNV	MOB3A:NM_130807:exon3:c.G88A:p.E30K,	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.219	B	0.024	B	0.000	D	1.000	D	1.9	L	.	.	-0.747	T	0.207	T	0.873	2.561	14.52	4.26	2.200	7.454	15.430	0.462	0.00771005563525	.	0.000199681	5.811e-05	0	0	0.0001	0	1.509e-05	0	0.0003	5.17e-05	8	154602	rs45509008	2.536e-05	2.531e-05	9.54e-06	4.136e-05	0.0003	1.871e-05	1.634e-05	0.0002	0.0002	0	2.24e-05	0	2.527e-05	0	0	5.406e-06	4.979e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.342e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.075	0.34444	T	0.131	0.37730	T	0.219	0.30243	B	0.024	0.20255	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.265	0.31966	L	.	.	.	-2.03	0.46673	N	0.881	0.88137	-0.7466	0.58113	T	0.207	0.56526	T	9	0.3395902	0.51043	T	0.00771	0.20457	T	0.462	0.75889	.	.	0.343560092441	0.33966	0.6615578791207789	0.66092	0.34292255472	0.36221	0.796504974365	0.81431	T	0.182617	0.53469	T	0.14917	0.69190	D	0.255931	0.85899	D	0.140993602548576	0.16361	T	0.988701	0.96153	D	0.28251502	0.51288	0.24613102	0.50116	0.28251502	0.51288	0.24613102	0.50115	-12.181	0.85722	D	.	.	0.814	0.78275	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.705413	0.75534	26.3	0.99793454807235804	0.87928	0.96174	0.67873	D	AEFBHCI	0.891211	0.82698	D	-0.00275961187068221	0.41732	2.501379	0.0510665823784125	0.42122	2.542421	0.999999999999988	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.26	4.26	0.49832	7.707000	0.83595	7.348000	0.58281	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	15.430	0.74813	964	0.07719	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1581.98	119	chr19	2078473	.	C	T	1581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=1774;ExcessHet=0.0000;FS=1.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=0.893;SOR=0.604	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1596,0,1323	20	0	1	0
chr19	3626603	3626603	C	G	exonic	CACTIN	.	nonsynonymous SNV	CACTIN:NM_001080543:exon1:c.G160C:p.E54Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.079	B	0.019	B	.	.	1.000	N	0	N	.	.	-1.065	T	0.059	T	0.217	2.297	13.64	4.47	2.201	1.433	12.991	0.032	0.00818847364444	.	.	5.794e-05	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs759881630	2.268e-06	2.736e-06	1.496e-06	3.056e-06	3.731e-05	6e-07	1.7e-07	.	.	3.731e-05	0	0	0	0	0	0	1.852e-05	1.399e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.462	0.12526	T	0.079	0.24468	B	0.019	0.18783	B	.	.	.	.	1	0.81001	D	1.1	0.28011	L	.	.	.	-0.62	0.18248	N	0.22	0.24634	-1.0646	0.10642	T	0.059	0.24908	T	8	0.065612614	0.08878	T	0.008188	0.21700	T	0.032	0.07718	0.235	0.16457	0.165150595986	0.16160	0.28331686271708073	0.28244	0.61882277947	0.56262	0.712203860283	0.68913	T	0.014245	0.12164	T	-0.259699	0.12934	T	-0.441688	0.28620	T	0.14051289512154	0.16319	T	0.457454	0.13149	T	0.14603762	0.33449	0.08888672	0.20752	0.14603762	0.33449	0.08888672	0.20751	-5.302	0.39963	T	.	.	0.089	0.12084	B	.;.;.	.;.;.	2.776884	0.36468	20.3	0.97161893741784477	0.32634	0.63158	0.32002	D	AEFDGBHCI	0.163828	0.29015	N	-0.360570021452801	0.26885	1.470822	-0.189520842612113	0.31920	1.811058	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.47	4.47	0.53770	0.553000	0.23098	2.436000	0.32752	0.524000	0.24156	0.145000	0.23581	1.000000	0.68203	0.075000	0.16954	0.0:1.0:0.0:0.0	12.991	0.58019	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	523.98	21	chr19	3626603	.	C	G	523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=660;ExcessHet=0.0000;FS=6.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=0.872;SOR=1.609	GT:AD:DP:GQ:PL	0/1:27,20:47:99:538,0,669	20	0	1	0
chr19	3637462	3637462	C	T	exonic	PIP5K1C	.	nonsynonymous SNV	PIP5K1C:NM_001300849:exon17:c.G2072A:p.R691Q,	Lethal congenital contractural syndrome 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221483762562	.	.	.	.	.	.	.	.	.	.	.	.	.	rs138081265	1.952e-05	1.847e-05	2.14e-05	1.758e-05	0.0002	1.337e-05	1.146e-05	1.251e-05	1.062e-05	3.166e-05	0	3.973e-05	2.799e-05	0	0.0002	1.947e-05	0	2.524e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.27822	T	.	.	.	0.058	0.02964	.	.	.	.	.	.	.	0.055750787	0.06142	T	0.022148	0.45008	T	.	.	.	.	0.0675242888579	0.06100	0.23577947208629216	0.23492	.	.	.	.	.	.	.	.	-0.198653	0.20999	T	-0.497947	0.22560	T	.	.	.	0.385361	0.09439	T	.	.	.	.	.	.	.	.	-3.992	0.23683	T	.	.	0.089	0.12276	B	.	.	0.081044	0.04871	1.460	0.85029035284495791	0.15642	0.01517	0.05008	N	AEFDBI	0.045035	0.07317	N	.	.	.	.	.	.	0.00112838207178433	0.08250	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	2.28	-2.93	0.05261	-0.187000	0.09652	-0.466000	0.09008	-1.078000	0.01575	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3625:0.4053:0.0:0.2322	3.018	0.05698	964	0.07719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2252.98	46	chr19	3637462	.	C	T	2252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.221;DP=988;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.563;SOR=0.693	GT:AD:DP:GQ:PL	0/1:68,98:166:99:2267,0,1381	20	0	1	0
chr19	4511563	4511563	C	0	exonic	PLIN4	.	.	.	.	.	463	531	326	1	201	529	0.235971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	17845.03	225	chr19	4511563	.	C	G,*	17845.03	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=2.12;DP=9752;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.1556;MLEAC=7,1;MLEAF=0.250,0.036;MQ=59.57;MQRankSum=-4.184e+00;QD=4.80;ReadPosRankSum=-5.230e+00;SOR=0.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:761,0,216:977:99:.:.:3568,5858,37177,0,31319,30802	8	0	5	7
chr19	4511566	4511566	A	0	exonic	PLIN4	.	.	.	.	.	415	583	322	1	201	525	0.21745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	16971.48	491	chr19	4511566	.	A	G,*	16971.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=-9.560e-01;DP=10566;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.53;MQRankSum=-3.775e+00;QD=4.50;ReadPosRankSum=-5.408e+00;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:761,0,216:977:99:.:.:3568,5858,37177,0,31319,30802	5	0	5	10
chr19	4511568	4511568	C	0	exonic	PLIN4	.	.	.	.	.	436	567	317	1	201	520	0.219546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	16047.48	490	chr19	4511568	.	C	T,*	16047.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=-4.580e-01;DP=10596;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.50;MQRankSum=-3.556e+00;QD=4.25;ReadPosRankSum=-5.809e+00;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:761,0,216:977:99:.:.:3568,5858,37177,0,31319,30802	5	0	5	10
chr19	4511569	4511569	A	0	exonic	PLIN4	.	.	.	.	.	438	565	317	1	201	520	0.220152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	15602.48	490	chr19	4511569	.	A	G,*	15602.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=5.73;DP=10604;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.48;MQRankSum=-3.635e+00;QD=4.12;ReadPosRankSum=-5.967e+00;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:761,0,216:977:99:.:.:3568,5858,37177,0,31319,30802	5	0	5	10
chr19	4511586	4511586	A	0	exonic	PLIN4	.	.	.	.	.	414	637	269	1	201	472	0.175405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	8809.48	466	chr19	4511586	.	A	G,*	8809.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=3.88;DP=10439;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.07;MQRankSum=-2.351e+00;QD=2.30;ReadPosRankSum=-8.743e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:761,0,216:977:99:.:.:3568,5858,37177,0,31319,30802	5	0	5	10
chr19	4511587	4511587	C	0	exonic	PLIN4	.	.	.	.	.	408	646	266	1	201	469	0.171795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	8200.48	466	chr19	4511587	.	C	G,*	8200.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=2.38;DP=10432;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.03;MQRankSum=-2.455e+00;QD=2.14;ReadPosRankSum=-8.658e+00;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:761,0,216:977:99:.:.:3568,5858,37177,0,31319,30802	5	0	5	10
chr19	4511607	4511607	T	0	exonic	PLIN4	.	.	.	.	.	411	783	127	0	201	328	0.0750148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	239.39	418	chr19	4511607	.	T	C,*	239.39	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=6.75;DP=9799;ExcessHet=0.1259;FS=1.507;InbreedingCoeff=0.0559;MLEAC=1,1;MLEAF=0.036,0.036;MQ=57.87;MQRankSum=-6.100e+00;QD=0.16;ReadPosRankSum=-8.626e+00;SOR=0.708	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:761,0,216:977:99:.:.:3568,5858,37177,0,31319,30802	12	0	1	7
chr19	4511608	4511608	G	0	exonic	PLIN4	.	.	.	.	.	412	785	124	0	201	325	0.0731995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	196.89	418	chr19	4511608	.	G	A,*	196.89	.	AC=1,1;AF=0.033,0.033;AN=30;BaseQRankSum=2.25;DP=9548;ExcessHet=0.1259;FS=1.507;InbreedingCoeff=0.0930;MLEAC=1,1;MLEAF=0.033,0.033;MQ=57.86;MQRankSum=-6.233e+00;QD=0.13;ReadPosRankSum=-8.347e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:761,0,216:977:99:.:.:3568,5858,37177,0,31319,30802	13	0	1	6
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	1/2:0,452,204:656:99:.:.:18760,5808,4454,13995,0,18812	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|2:0,369,200:569:99:0|1:4511713_T_*:21098,5821,4691,15235,0,15361:4511713	0	9	3	8
chr19	4511718	4511718	T	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	139161.99	105	chr19	4511718	.	T	*,C	139161.99	.	AC=1,18;AF=0.038,0.692;AN=26;BaseQRankSum=2.11;DP=8846;ExcessHet=2.2649;FS=2.542;InbreedingCoeff=-0.0055;MLEAC=1,25;MLEAF=0.038,0.962;MQ=56.65;MQRankSum=-5.673e+00;QD=32.12;ReadPosRankSum=0.575;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,200,373:573:99:0|1:4511713_T_*:21258,15360,15220,5828,0,4685:4511713	0	0	0	8
chr19	5866928	5866928	G	-	exonic	FUT5	.	frameshift deletion	FUT5:NM_002034:exon2:c.798delC:p.D267Tfs*64,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.692e-05	0	8.697e-05	0	0	1.546e-05	0	0	1.29e-05	2	154602	rs765697026	2.053e-06	2.052e-06	2.723e-06	1.375e-06	2.237e-05	5.5e-07	1.5e-07	.	.	0	2.237e-05	0	0	0	0	8.994e-07	1.656e-05	0	1.979e-05	1.969e-05	3.869e-05	0	0.0002	5.26e-06	2.46e-06	5.298e-05	2.838e-05	0	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2759.94	60	chr19	5866927	.	CG	C	2759.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=1672;ExcessHet=0.0000;FS=1.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.89;MQRankSum=-3.659e+00;QD=13.08;ReadPosRankSum=-1.338e+00;SOR=0.850	GT:AD:DP:GQ:PL	0/1:112,99:211:99:2774,0,3118	20	0	1	0
chr19	5914468	5914468	C	T	exonic	CAPS	.	nonsynonymous SNV	CAPS:NM_004058:exon2:c.C62T:p.S21L	.	.	.	.	.	.	.	.	.	.	.	2333737	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.003	B	0.003	B	0.011	N	1.000	N	1.75	L	0.89	T	-1.023	T	0.110	T	0.19	2.633	14.77	0.484	0.217	1.719	5.235	0.041	0.00630102347933	.	.	3.359e-05	0	8.664e-05	0	0	3.07e-05	0	6.186e-05	2.59e-05	4	154602	rs781604890	9.453e-05	9.44e-05	9.675e-05	9.228e-05	0.0001	8.145e-05	7.661e-05	9.76e-05	9.166e-05	5.978e-05	0.0001	0	0	0	0	0.0001	4.972e-05	1.16e-05	8.541e-05	8.536e-05	8.992e-05	8.068e-05	0.0001	4.956e-05	3.962e-05	7.908e-05	5.994e-05	2.412e-05	0	6.543e-05	0	0	9.409e-05	0	0.0001	0	0	.	.	.	0.221	0.38742	T	.	.	.	.	.	.	0.010523	0.29887	N	0.274206	1	0.08975	N	.	.	.	0.86	0.54911	T	.	.	.	0.275	0.34981	-1.0228	0.22802	T	0.110	0.39675	T	10	0.11395633	0.21425	T	0.006301	0.16551	T	0.041	0.10877	.	.	0.576407682716	0.57309	.	.	.	.	0.391568481922	0.23890	T	0.066513	0.32965	T	-0.320373	0.06866	T	-0.472268	0.25272	T	0.582565903663635	0.35717	D	0.823018	0.50110	T	0.05943416	0.12078	0.076257	0.16872	0.05943416	0.12078	0.076257	0.16871	-5.213	0.39074	T	.	.	0.215	0.44397	B	.;.;.	.;.;.	2.399310	0.30823	18.55	0.99353161693949132	0.60697	0.17536	0.19879	N	AEFDBCI	0.104741	0.20949	N	-0.591544871096551	0.19200	1.003019	-0.570358238057712	0.20267	1.091168	0.999995960244611	0.74766	0.536635	0.22144	0	0.577304	0.33150	0	0.489635	0.07774	0	0.664235	0.64389	0	.	.	5.35	0.484	0.16035	2.605000	0.45947	-0.563000	0.08467	0.599000	0.40250	0.308000	0.25396	0.000000	0.08366	0.291000	0.24285	0.0:0.5761:0.1495:0.2743	5.235	0.14762	867	0.32089	EF-hand domain;.;EF-hand 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	2384.98	33	chr19	5914468	.	C	T	2384.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=908;ExcessHet=0.0000;FS=1.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=-2.320e-01;SOR=0.611	GT:AD:DP:GQ:PL	0/1:108,99:207:99:2399,0,2455	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	0/1:66,22:88:99:.:.:192,0,1475	10	0	10	1
chr19	8445092	8445092	G	C	exonic	HNRNPM	.	nonsynonymous SNV	HNRNPM:NM_005968:exon1:c.G94C:p.G32R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.945	D	0.000	D	0.998	D	0.695	N	2.7	T	-1.119	T	0.051	T	0.473	3.095	16.34	4.04	2.352	2.111	8.476	0.135	0.155927836095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.206	0.62352	T	0.998	0.73220	D	0.945	0.68163	D	0.000031	0.55875	D	0.000000	0.99811	0.44524	D	0.895	0.22405	L	2.7	0.20122	T	-0.18	0.09796	N	0.424	0.48872	-1.1186	0.02421	T	0.051	0.21767	T	10	0.261638	0.43625	T	0.155928	0.83678	D	0.135	0.36572	0.294	0.25720	0.422872527889	0.41901	0.5286889482187896	0.52792	0.671510168274	0.59462	0.723069250584	0.70494	T	0.094317	0.39391	T	-0.103108	0.35909	T	-0.385884	0.35032	T	0.902289211750031	0.55521	D	0.89491	0.65538	D	0.084774874	0.19637	0.21407256	0.45944	0.084774874	0.19636	0.21407256	0.45943	-7.807	0.61343	D	.	.	0.158	0.57224	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.142343	0.62066	24.4	0.99222613971225182	0.55963	0.88193	0.48012	D	ALL	0.402297	0.47644	N	0.348553319629901	0.58663	4.039971	0.371567623110632	0.59819	4.162974	0.999999999999599	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.07	4.04	0.46262	1.564000	0.35983	.	.	-0.193000	0.09282	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.1042:0.0:0.8958:0.0	8.476	0.32175	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	1134.98	33	chr19	8445092	.	G	C	1134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.790e-01;DP=795;ExcessHet=0.0000;FS=2.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.479;SOR=0.462	GT:AD:DP:GQ:PL	0/1:38,53:91:99:1149,0,751	20	0	1	0
chr19	8871627	8871627	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon70:c.G41972A:p.R13991Q,	.	.	421	1086	15	0	0	15	0.00685871	.	.	3191483	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	0.89	P	0.633	P	0.098	N	.	.	2.445	M	1.42	T	-0.960	T	0.099	T	0.062	-0.068	3.666	-0.826	-0.300	-0.283	8.353	0.054	.	0.0041	0.00559105	0.0027	0.0127	0.0025	0	0	0.0007	0.0047	0.0092	0.0024385	377	154602	rs114920126	0.0011	0.0012	0.0010	0.0013	0.0118	0.0011	0.0011	0.0108	0.0104	0.0118	0.0023	0.0003	0	1.9e-05	0.0066	0.0004	0.0020	0.0062	0.0042	0.0042	0.0042	0.0042	0.0124	0.0039	0.0038	0.0115	0.0111	0.0124	0	0.0027	0.0009	0.0002	0	0.0170	0.0006	0.0028	0.0050	0.253	0.16958	T	0.295	0.20680	T	.	.	.	.	.	.	0.097604	0.02516	N	2.322730	1	0.08975	N	.	.	.	1.42	0.33189	T	-1.15	0.29525	N	0.095	0.07535	-0.9599	0.39199	T	0.099	0.36957	T	9	0.0040629804	0.00079	T	.	.	.	0.054	0.15330	.	.	0.0846915920261	0.08053	0.3408060841972615	0.33993	.	.	0.196139812469	0.00353	T	.	.	.	-0.657159	0.00065	T	-0.705709	0.05519	T	0.0126676945277565	0.00212	T	0.319768	0.06432	T	.	.	.	.	.	.	.	.	-5.141	0.38336	T	.	.	0.066	0.02200	B	.	.	0.363628	0.07360	3.982	0.9350958345138678	0.23321	0.01338	0.04604	N	AEFBI	0.036982	0.05014	N	-1.17523555218169	0.05376	0.2449383	-1.33753350985914	0.03954	0.1855621	1.27795500861326E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.89	-0.826	0.10260	-0.281000	0.08489	.	.	-1.012000	0.01762	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5815:0.0:0.4185	8.353	0.31475	958	0.09170	SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	780.11	28	chr19	8871627	.	C	T	780.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.92;DP=670;ExcessHet=0.1072;FS=0.970;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=-9.600e-02;SOR=0.569	GT:AD:DP:GQ:PL	0/1:11,14:25:99:358,0,296	19	0	2	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|2:455,0,88:543:99:0|1:8888745_G_C:2022,3391,21796,0,18405,18140:8888745	8	0	6	3
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X,	.	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.702	14.99	1.01	0.786	-0.955	7.596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	9208.93	410	chr19	8888803	.	G	A	9208.93	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.183e+00;DP=10099;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2685;MLEAC=9;MLEAF=0.214;MQ=57.32;MQRankSum=-7.194e+00;QD=2.03;ReadPosRankSum=1.87;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:439,50:489:38:.:.:38,0,17171	12	0	9	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	23587.18	358	chr19	8888822	.	GCTTT	G,*,TCTTT	23587.18	.	AC=17,3,1;AF=0.405,0.071,0.024;AN=42;BaseQRankSum=1.15;DP=9724;ExcessHet=54.0936;FS=9.916;InbreedingCoeff=-1.0000;MLEAC=17,3,1;MLEAF=0.405,0.071,0.024;MQ=57.12;MQRankSum=-1.109e+01;QD=2.75;ReadPosRankSum=0.578;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:271,76,41,44:432:99:.:.:2936,0,11070,1416,9581,12582,1978,9529,10946,13643	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|1:304,70,41:415:99:0|1:8888826_T_*:2027,0,12553,1220,11046,13862:8888826	1	0	19	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H,	.	.	419	985	117	1	0	119	0.0569651	.	.	3206446	MUC16-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.289	B	0.104	B	.	.	.	.	0.85	L	4.62	T	-0.937	T	0.005	T	0.187	-0.708	0.946	-2.32	-0.921	-3.230	2.997	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	2350.15	47	chr19	8900017	.	C	G	2350.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.351;DP=3884;ExcessHet=11.8493;FS=0.993;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=59.12;MQRankSum=-1.468e+01;QD=0.70;ReadPosRankSum=1.95;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,23:286:99:0|1:8900009_C_T:174,0,10967:8900009	8	0	13	0
chr19	8960112	8960112	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C16658G:p.T5553S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.039	B	0.01	B	.	.	.	.	0.46	N	4.32	T	-0.975	T	0.006	T	0.073	0.140	4.751	0.516	0.246	-0.156	4.470	0.020	0.000557080928074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.829	0.03728	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.32	0.02387	T	-0.21	0.10308	N	0.075	0.04913	-0.9746	0.36213	T	0.006	0.02093	T	8	0.07552707	0.11684	T	5.57E-4	0.00221	T	0.020	0.03691	0.185	0.09388	0.0551355673512	0.04727	0.035792942912204175	0.03526	.	.	0.202649399638	0.00538	T	.	.	.	-0.349539	0.04756	T	-0.739865	0.03897	T	0.0618408806247755	0.07456	T	0.175282	0.01690	T	.	.	.	.	.	.	.	.	-6.16	0.47598	T	.	.	0.152	0.33687	B	.	.	-0.090120	0.03699	0.754	0.29992123822200517	0.01618	0.01671	0.05346	N	AEFBI	0.022470	0.01128	N	-1.07162818838596	0.07170	0.3322678	-1.15085085909645	0.06753	0.3261131	1.23712550126271E-4	0.05386	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.67	0.516	0.16217	0.166000	0.16400	.	.	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2126:0.0:0.7874:0.0	4.470	0.11128	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07895	538.84	122	chr19	8960112	.	G	C	538.84	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-6.244e+00;DP=3173;ExcessHet=0.3300;FS=139.984;InbreedingCoeff=-0.1054;MLEAC=3;MLEAF=0.079;MQ=59.98;MQRankSum=0.00;QD=0.86;ReadPosRankSum=1.27;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,50:199:99:0|1:8960112_G_C:256,0,4071:8960112	16	0	3	2
chr19	8960197	8960197	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.T16573C:p.S5525P,	.	.	435	1076	10	1	0	12	0.00554529	.	.	716820	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.001	B	0.001	B	.	.	.	.	0.975	L	4.19	T	-0.987	T	0.005	T	0.044	-0.111	3.455	0.851	0.192	0.206	3.871	0.041	.	0.0051	0.00479233	0.0083	0.0013	0.0018	0	0.0181	0.0119	0.0067	0.0027	0.0079947	1236	154602	rs79202331	0.0082	0.0082	0.0082	0.0082	0.0111	0.0081	0.0080	0.0089	0.0087	0.0010	0.0025	0.0144	2.519e-05	0.0177	0.0111	0.0089	0.0071	0.0024	0.0072	0.0072	0.0072	0.0072	0.0097	0.0069	0.0067	0.0091	0.0088	0.0015	0	0.0075	0.0130	0	0.0172	0.0204	0.0097	0.0076	0.0029	0.097	0.30943	T	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-0.54	0.16598	N	0.036	0.01068	-0.9867	0.33420	T	0.005	0.01833	T	8	0.0048202574	0.00102	T	.	.	.	0.041	0.10877	.	.	0.0297737177859	0.01360	0.022173761645922854	0.02169	.	.	0.198162183166	0.00405	T	.	.	.	-0.73462	0.00022	T	-0.815033	0.01555	T	0.0015036828539327	0.00015	T	0.150285	0.01269	T	.	.	.	.	.	.	.	.	-5.308	0.40022	T	.	.	0.093	0.14015	B	.	.	0.592832	0.09614	6.386	0.28077173634888841	0.01424	0.01306	0.04530	N	AEFBI	0.034542	0.04297	N	-1.25663538588278	0.04213	0.1897029	-1.33152552968312	0.04028	0.1891625	1.16888634297352E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.89	0.851	0.18128	0.085000	0.14759	.	.	-0.230000	0.07744	0.005000	0.17040	0.000000	0.08366	0.032000	0.13371	0.8048:0.0:0.1952:0.0	3.871	0.08542	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2846.98	123	chr19	8960197	.	A	G	2846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.267e+00;DP=3014;ExcessHet=0.0000;FS=11.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-7.870e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/1:100,104:204:99:2861,0,2639	20	0	1	0
chr19	10110993	10110993	G	A	exonic	PPAN;PPAN-P2RY11	.	nonsynonymous SNV	PPAN:NM_001346141:exon11:c.G1091A:p.R364Q	.	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.023	B	0.001	B	.	.	1.000	N	0.345	N	1.56	T	-1.061	T	0.058	T	0.246	-0.990	0.275	-0.093	-1.381	1.095	.	0.046	.	0.0069	0.00199681	0.0084	0.0008	0.0022	0	0.0161	0.0130	0.0067	0.0004	0.0078654	1216	154602	rs74406884	0.0081	0.0081	0.0082	0.0080	0.0087	0.0080	0.0079	0.0085	0.0085	0.0017	0.0029	0.0272	2.519e-05	0.0139	0.0029	0.0087	0.0086	0.0005	0.0072	0.0072	0.0068	0.0075	0.0102	0.0068	0.0067	0.0096	0.0093	0.0014	0	0.0046	0.0274	0	0.0145	0	0.0102	0.0062	0.0004	0.568	0.17126	T	0.337	0.18178	T	0.014	0.16867	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	1.51	0.61677	T	-0.28	0.11547	N	0.07	0.09349	-1.0609	0.11532	T	0.058	0.24167	T	8	0.0029360354	0.00047	T	.	.	.	0.046	0.12618	.	.	0.0846915920261	0.08053	0.14836677046078955	0.14758	0.0774941032052	0.08717	.	.	.	0.04347	0.26512	T	-0.511701	0.00491	T	-0.495475	0.22818	T	0.00144275889447176	0.00014	T	0.444656	0.12799	T	0.026290843	0.01669	0.05348595	0.09018	0.026290843	0.01668	0.05348595	0.09018	-2.205	0.04064	T	.	.	0.092	0.14155	B	.;.;.;.	.;.;.;.	0.693041	0.10619	7.319	0.75895248164057005	0.11253	0.02021	0.06069	N	AEFDBCI	0.054771	0.09988	N	-1.64371025404103	0.01062	0.04607651	-1.74030537857526	0.00970	0.04346208	0.999999540168426	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	0.046	-0.093	0.12988	0.480000	0.21954	-1.210000	0.06016	-1.302000	0.01243	0.005000	0.17040	0.957000	0.29195	0.001000	0.02609	.	.	.	929	0.16858	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1842.98	34	chr19	10110993	.	G	A	1842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.11;DP=874;ExcessHet=0.0000;FS=0.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=-1.377e+00;SOR=0.614	GT:AD:DP:GQ:PL	0/1:55,67:122:99:1857,0,1270	20	0	1	0
chr19	10288065	10288065	G	A	exonic	ICAM4	.	nonsynonymous SNV	ICAM4:NM_001039132:exon3:c.G700A:p.V234I,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.168	B	0.013	B	0.003	N	0.999	N	.	.	1.85	T	-1.017	T	0.048	T	0.159	2.046	12.80	1.62	0.558	-0.088	5.138	0.048	0.00693435395347	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs370615268	1.505e-05	1.505e-05	8.167e-06	2.2e-05	0.0002	9.85e-06	8.41e-06	5.395e-05	4.042e-05	0	0	0	5.038e-05	0	0.0002	5.396e-06	6.623e-05	0.0001	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.003448	0.00962	N	4.260870	1	0.21473	N	.	.	.	1.85	0.24472	T	0.02	0.06739	N	0.126	0.11912	-1.0168	0.24755	T	0.048	0.20513	T	9	0.054804623	0.05891	T	0.006934	0.18345	T	0.048	0.13305	0.202	0.11659	0.0482279557977	0.04254	0.09562541607459252	0.09494	0.554696742166	0.52201	0.315724611282	0.12774	T	.	.	.	-0.386583	0.02830	T	-0.556407	0.16716	T	0.484380602836609	0.32058	T	0.429357	0.11628	T	.	.	.	.	.	.	.	.	-4.331	0.28610	T	.	.	0.106	0.19720	B	.	.	1.018124	0.13976	10.54	0.96479692078929125	0.29967	0.11809	0.16875	N	ALL	0.033365	0.03942	N	-0.947452924547697	0.09749	0.4628218	-1.0258277621542	0.09219	0.457422	0.999999999996826	0.74766	0.676563	0.55306	0	0.609123	0.50646	0	0.673471	0.61138	0	0.620976	0.48614	0	.	.	3.77	1.62	0.22817	-0.083000	0.11250	0.216000	0.16018	-0.187000	0.09635	0.000000	0.06391	0.009000	0.19889	0.003000	0.05239	0.0:0.6527:0.2278:0.1196	5.138	0.14274	600	0.68026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1172.98	35	chr19	10288065	.	G	A	1172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=822;ExcessHet=0.0000;FS=0.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=0.915;SOR=0.576	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1187,0,1229	20	0	1	0
chr19	10631490	10631490	C	T	exonic	SLC44A2	.	nonsynonymous SNV	SLC44A2:NM_001145056:exon7:c.C451T:p.L151F	.	.	420	1086	14	2	0	18	0.00821918	.	.	2811565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.149	B	0.26	B	0.001	D	1.000	D	3.005	M	2.82	T	-1.100	T	0.043	T	0.34	3.056	16.20	4.87	2.561	3.360	11.149	0.134	.	0.0046	0.00119808	0.0043	0.0012	0.0027	0	0.0011	0.0066	0.0044	0.0018	0.004269	660	154602	rs147820753	0.0053	0.0053	0.0054	0.0052	0.0061	0.0052	0.0051	0.0060	0.0059	0.0012	0.0038	0.0060	2.519e-05	0.0015	0.0049	0.0061	0.0049	0.0017	0.0042	0.0042	0.0047	0.0037	0.0070	0.0039	0.0038	0.0065	0.0063	0.0011	0	0.0045	0.0063	0	0.0007	0.0034	0.0070	0.0043	0.0008	0.008	0.65419	D	0.072	0.51737	T	0.149	0.27956	B	0.26	0.39460	B	0.000731	0.42129	D	0.207551	0.999687	0.48270	D	3.355	0.91145	M	1.92	0.23082	T	-2.45	0.53577	N	0.284	0.32148	-1.0997	0.04128	T	0.043	0.18701	T	10	0.0039951503	0.00077	T	.	.	.	0.134	0.36365	.	.	0.467247493403	0.46351	0.8331735572011452	0.83276	0.460764587813	0.45631	0.57872068882	0.49906	T	0.110705	0.59963	T	-0.414945	0.01844	T	-0.362277	0.37787	T	0.0778227691841469	0.09706	T	0.710029	0.40874	T	0.17049186	0.37626	0.18059826	0.40869	0.17049186	0.37626	0.18059826	0.40868	-8.331	0.63304	D	.	.	0.459	0.65444	A	.;.;.;.;.	.;.;.;.;.	3.717994	0.53115	23.3	0.99811418551868991	0.89531	0.96237	0.68167	D	AEFDGBI	0.580958	0.58116	D	0.096398637139644	0.46294	2.872031	0.121495831935482	0.45650	2.824449	0.999994654175628	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	3.429000	0.52567	3.287000	0.37275	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0:0.9113:0.0:0.0887	11.149	0.47669	814	0.42100	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2397.98	98	chr19	10631490	.	C	T	2397.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=2207;ExcessHet=0.0000;FS=2.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.51;ReadPosRankSum=-1.847e+00;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,61:102:99:0|1:10631490_C_T:2412,0,1514:10631490	20	0	1	0
chr19	11447529	11447531	GAG	-	exonic	PRKCSH	.	nonframeshift deletion	PRKCSH:NM_001289102:exon10:c.940_942del:p.E325del	Polycystic liver disease 1, Autosomal dominant	.	0	61	87	26	52	191	0.532567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	61194.9	119	chr19	11447525	.	AGAGGAG	A,AGAG	61194.9	.	AC=5,21;AF=0.119,0.500;AN=42;BaseQRankSum=-4.730e-01;DP=3206;ExcessHet=4.5793;FS=1.171;InbreedingCoeff=-0.2115;MLEAC=5,21;MLEAF=0.119,0.500;MQ=60.00;MQRankSum=0.00;QD=26.39;ReadPosRankSum=0.563;SOR=0.619	GT:AD:DP:GQ:PL	1/2:0,63,61:124:99:5052,2501,2499,2521,0,2326	2	0	2	0
chr19	11487712	11487712	C	T	exonic	ZNF653	.	nonsynonymous SNV	ZNF653:NM_138783:exon4:c.G751A:p.V251M,	.	.	427	1082	13	0	0	13	0.00597152	.	.	2811599	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.066	B	0.007	B	0.666	N	0.592	N	-0.345	N	2.8	T	-1.079	T	0.009	T	0.185	1.080	9.411	3.2	2.210	0.664	6.927	0.052	0.00620692297086	0.0048	0.00179712	0.0045	0.0033	0.0018	0	0.0064	0.0061	0.0034	0.0026	0.0044566	689	154602	rs140179197	0.0056	0.0056	0.0055	0.0056	0.0065	0.0055	0.0054	0.0063	0.0063	0.0038	0.0021	7.656e-05	0	0.0052	0.0024	0.0065	0.0043	0.0025	0.0042	0.0042	0.0044	0.0040	0.0061	0.0039	0.0038	0.0056	0.0055	0.0033	0	0.0018	0.0003	0	0.0036	0	0.0061	0.0024	0.0025	0.145	0.25154	T	0.104	0.38160	T	0.066	0.23586	B	0.007	0.12992	B	0.665997	0.10385	N	0.848002	0.592312	0.31009	N	0.345	0.11182	N	2.8	0.11082	T	0.24	0.04533	N	0.238	0.26837	-1.0795	0.07446	T	0.009	0.03403	T	10	0.005102366	0.00110	T	0.006207	0.16288	T	0.052	0.14661	.	.	0.340032825777	0.33618	0.2615099889713293	0.26063	0.191270352614	0.21451	0.576436936855	0.49583	T	0.023085	0.17685	T	-0.586708	0.00176	T	-0.609569	0.12020	T	0.00482236284443729	0.00052	T	0.729627	0.34527	T	0.065100916	0.13880	0.062361695	0.12187	0.065100916	0.13880	0.062361695	0.12187	-4.897	0.35701	T	.	.	0.166	0.36673	B	.	.	2.053901	0.26112	17.00	0.97824821111115767	0.36220	0.49554	0.28460	N	AEFDGBI	0.074435	0.14919	N	-0.38601774951174	0.25967	1.413592	-0.212332017260941	0.31092	1.756436	0.00193273689787783	0.09019	0.700653	0.57754	0	0.653731	0.59785	0	0.717052	0.78885	0	0.699875	0.68795	0	.	.	4.49	3.2	0.35826	0.887000	0.27891	.	.	0.591000	0.32079	0.973000	0.34540	0.000000	0.08366	0.978000	0.57271	0.0:0.7833:0.0:0.2167	6.927	0.23598	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1809.98	95	chr19	11487712	.	C	T	1809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.535;DP=952;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=0.517;SOR=0.666	GT:AD:DP:GQ:PL	0/1:54,73:127:99:1824,0,1222	20	0	1	0
chr19	12673255	12673255	G	A	exonic	WDR83	.	nonsynonymous SNV	WDR83:NM_032332:exon8:c.G737A:p.R246H	.	.	424	1096	2	0	0	2	0.000911577	.	.	2340427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.187	B	0.015	B	0.000	D	0.816	D	0.705	N	-1.46	T	-0.895	T	0.119	T	0.44	3.448	17.68	4.4	1.297	3.259	9.303	0.047	0.0455378726101	.	.	0.0002	0	0.0005	0.0001	0	0.0003	0	6.058e-05	0.0001876	29	154602	rs199685737	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0004	2.987e-05	0.0003	0	0	0	0.0012	0.0002	0.0002	8.115e-05	0.0001	0.0001	0.0001	8.069e-05	0.0002	7.095e-05	5.751e-05	0.0001	8.88e-05	2.409e-05	0	0.0002	0	0	0	0	0.0002	0	0	0.066	0.36113	T	0.108	0.37589	T	0.187	0.29285	B	0.015	0.17295	B	0.000101	0.50451	D	0.174525	0.816316	0.34712	D	0.55	0.14455	N	-1.46	0.80983	T	-1.03	0.27052	N	0.452	0.48963	-0.8948	0.48502	T	0.119	0.41669	T	10	0.15356863	0.28984	T	0.045538	0.62027	D	0.209	0.49871	0.425	0.47021	0.57604792508	0.57274	0.22793021654979237	0.22708	0.829311628033	0.67554	0.436872065067	0.30150	T	0.34768	0.71577	T	-0.177782	0.24067	T	-0.195588	0.55063	T	0.0450481772422791	0.04612	T	0.910909	0.68443	D	0.036502175	0.04503	0.04003048	0.04233	0.036502175	0.04503	0.04003048	0.04233	-4.411	0.29706	T	.	.	0.100	0.17232	B	.	.	2.963104	0.39466	21.0	0.99908816198209072	0.97875	0.70790	0.34737	D	AEFDBHCI	0.163771	0.29009	N	0.0255893592396282	0.43020	2.603303	0.091596821816124	0.44123	2.70034	0.850260083033605	0.25031	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.43	4.4	0.52402	3.283000	0.51405	.	.	0.672000	0.70159	0.999000	0.42656	0.999000	0.35428	0.514000	0.29336	0.166:0.0:0.834:0.0	9.303	0.37017	735	0.53711	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	1512.98	35	chr19	12673255	.	G	A	1512.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-01;DP=873;ExcessHet=0.0000;FS=0.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=1.55;SOR=0.780	GT:AD:DP:GQ:PL	0/1:71,70:141:99:1527,0,1586	20	0	1	0
chr19	13207871	13207876	CTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6963del:p.Q2324_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,13,0,0,0,0,0:20:99:.:.:525,0,254,546,294,840,546,294,840,840,546,294,840,840,840,546,294,840,840,840,840,546,294,840,840,840,840,840	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	0/1:7,13,0,0,0,0,0:20:99:.:.:525,0,254,546,294,840,546,294,840,840,546,294,840,840,840,546,294,840,840,840,840,546,294,840,840,840,840,840	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	0/1:7,13,0,0,0,0,0:20:99:.:.:525,0,254,546,294,840,546,294,840,840,546,294,840,840,840,546,294,840,840,840,840,546,294,840,840,840,840,840	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	0/1:7,13,0,0,0,0,0:20:99:.:.:525,0,254,546,294,840,546,294,840,840,546,294,840,840,840,546,294,840,840,840,840,546,294,840,840,840,840,840	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	0/1:7,13,0,0,0,0,0:20:99:.:.:525,0,254,546,294,840,546,294,840,840,546,294,840,840,840,546,294,840,840,840,840,546,294,840,840,840,840,840	2	3	6	0
chr19	14053906	14053906	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1568C:p.G523A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.035	B	0.031	B	.	.	1.000	N	1.04	L	0.93	T	-0.996	T	0.055	T	0.086	1.558	11.16	-2.21	-0.247	-0.540	4.001	0.010	0.00482107082708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.15e-07	8.62e-05	1.411e-06	0	9.272e-07	0	0	.	.	0	0	0	0	0	0	9.272e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.582	0.08448	T	0.035	0.20614	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	1.32	0.33002	L	0.93	0.44065	T	-0.73	0.20576	N	0.05	0.02179	-0.9959	0.31055	T	0.055	0.23375	T	9	0.047597438	0.04099	T	0.004821	0.12066	T	0.010	0.01040	0.204	0.11936	0.0297737177859	0.01360	0.043480154686174236	0.04293	.	.	0.316369116306	0.12871	T	0.003635	0.03040	T	-0.314852	0.07328	T	-0.69004	0.06386	T	0.0587676949799061	0.06973	T	0.392661	0.09777	T	0.053652357	0.10184	0.042563137	0.05096	0.053652357	0.10184	0.042563137	0.05096	-3.165	0.12058	T	.	.	0.091	0.13080	B	.	.	-0.004163	0.04254	1.054	0.87933678530610904	0.17591	0.08655	0.14553	N	AEFDBCI	0.172582	0.29962	N	-1.18619449748543	0.05208	0.2368802	-1.24326432024207	0.05231	0.2487758	0.00121004456635823	0.08334	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	3.68	-2.21	0.06581	-0.553000	0.06104	-1.137000	0.06220	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.4002:0.1834:0.4164	4.001	0.09070	824	0.40336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	156.11	95	chr19	14053906	.	C	G	156.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.766e+00;DP=1112;ExcessHet=0.1072;FS=103.146;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=0.968;SOR=7.341	GT:AD:DP:GQ:PL	0/1:125,22:147:99:107,0,4607	19	0	2	0
chr19	14053907	14053907	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1567C:p.G523R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.008	B	0.01	B	.	.	1.000	N	0.345	N	0.95	T	-1.008	T	0.053	T	0.128	1.029	9.204	2.05	0.372	0.192	6.843	0.013	0.0052078798388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.14207	T	0.557	0.09205	T	0.008	0.14655	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	0.95	0.43279	T	-0.69	0.19720	N	0.059	0.03069	-1.0081	0.27510	T	0.053	0.22423	T	9	0.04972422	0.04603	T	0.005208	0.13279	T	0.013	0.01715	0.196	0.10839	0.139678290688	0.13603	0.027866872545468033	0.02736	.	.	0.337800443172	0.16108	T	0.001275	0.00758	T	-0.277433	0.10942	T	-0.63629	0.09943	T	0.0434918548633612	0.04328	T	0.461754	0.13398	T	0.07602174	0.17165	0.06639426	0.13595	0.07602174	0.17164	0.06639426	0.13595	-5.02	0.37056	T	.	.	0.138	0.30184	B	.	.	1.347247	0.17547	13.23	0.77371077808316469	0.11848	0.24576	0.22436	N	AEFDBCI	0.212789	0.33844	N	-1.05278905982485	0.07533	0.3502519	-1.02789764357686	0.09174	0.4549612	0.00144854144453499	0.08543	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.2	2.05	0.25860	0.412000	0.20852	0.452000	0.18532	0.549000	0.26987	0.003000	0.16062	0.000000	0.08366	0.102000	0.18378	0.0:0.779:0.0:0.221	6.843	0.23157	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	0.1538	406.69	113	chr19	14053907	.	C	G	406.69	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-3.914e+00;DP=2349;ExcessHet=0.6776;FS=123.470;InbreedingCoeff=-0.2360;MLEAC=6;MLEAF=0.231;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=1.35;SOR=10.386	GT:AD:DP:GQ:PL	0/1:119,22:144:99:114,0,4577	9	0	4	8
chr19	16501519	16501519	G	A	exonic	C19orf44	.	nonsynonymous SNV	C19orf44:NM_001288834:exon2:c.G727A:p.V243I	.	.	479	1041	1	1	0	3	0.00143885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.669	P	0.248	N	1.000	N	1.935	M	.	.	-1.010	T	0.139	T	0.059	1.689	11.61	3.19	2.360	0.729	8.968	0.146	0.00466426299751	.	0.000199681	3.368e-05	0.0001	8.709e-05	0	0	3.056e-05	0	0	3.23e-05	5	154602	rs188780108	2.302e-05	2.189e-05	1.503e-05	3.136e-05	0.0004	1.633e-05	1.417e-05	6.881e-05	2.877e-05	7.318e-05	8.288e-05	0	0	2.093e-05	0.0004	1.649e-05	9.509e-05	1.681e-05	3.293e-05	3.284e-05	6.442e-05	0	4.414e-05	1.263e-05	7.99e-06	1.172e-05	6.25e-06	2.415e-05	0	0	0	0	9.568e-05	0	4.414e-05	0	0	0.044	0.41096	D	0.305	0.20551	T	0.994	0.66517	D	0.669	0.53077	P	0.247704	0.15576	N	0.475580	1	0.19486	N	1.435	0.35949	L	.	.	.	-0.48	0.15379	N	0.023	0.03726	-1.0101	0.26886	T	0.139	0.45734	T	9	0.09088123	0.15871	T	0.004664	0.11566	T	0.146	0.38789	.	.	0.0806252709748	0.07271	0.06933652505517159	0.06871	0.310238895181	0.33346	.	.	.	0.039365	0.25164	T	-0.416397	0.01804	T	-0.63893	0.09746	T	0.0346549339592457	0.02749	T	0.423358	0.11306	T	0.035480227	0.04184	0.036461588	0.03098	0.035480227	0.04184	0.036461588	0.03098	-3.492	0.16320	T	.	.	0.077	0.06710	B	.;.	.;.	0.642386	0.10110	6.855	0.98234808365413351	0.39423	0.12995	0.17602	N	AEFBI	0.032473	0.03677	N	-0.161995612911454	0.34726	1.985652	-0.334454549210748	0.26994	1.494833	0.0363739065528694	0.14242	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	4.34	3.19	0.35720	0.588000	0.23626	0.458000	0.18589	-0.734000	0.03706	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.7016:0.2984	8.968	0.35051	794	0.45591	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	830.98	34	chr19	16501519	.	G	A	830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.280;DP=913;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.34;ReadPosRankSum=0.679;SOR=0.779	GT:AD:DP:GQ:PL	0/1:52,37:89:99:845,0,1246	20	0	1	0
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	4780.38	36	chr19	17286684	.	G	T,*	4780.38	.	AC=7,9;AF=0.175,0.225;AN=40;BaseQRankSum=-8.400e-01;DP=1119;ExcessHet=4.5793;FS=8.883;InbreedingCoeff=-0.2478;MLEAC=7,9;MLEAF=0.175,0.225;MQ=59.96;MQRankSum=0.00;QD=8.55;ReadPosRankSum=0.894;SOR=0.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,31,0:59:99:.:.:927,0,1203,1059,1216,2396	6	0	6	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1476.26	36	chr19	17286686	.	GTGTGTT	*,G,TTGTGTT	1476.26	.	AC=9,2,4;AF=0.214,0.048,0.095;AN=42;BaseQRankSum=0.195;DP=1111;ExcessHet=3.1640;FS=2.719;InbreedingCoeff=-0.1486;MLEAC=9,2,4;MLEAF=0.214,0.048,0.095;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=0.928;SOR=0.500	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:44,0,9,0:53:99:.:.:188,312,2494,0,1610,1476,338,2228,1595,2163	8	1	7	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	4769.66	36	chr19	17286688	.	GTGTT	*,G,TTGTT	4769.66	.	AC=11,10,1;AF=0.262,0.238,0.024;AN=42;BaseQRankSum=0.035;DP=1122;ExcessHet=8.0185;FS=14.083;InbreedingCoeff=-0.3339;MLEAC=11,10,1;MLEAF=0.262,0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=7.34;ReadPosRankSum=0.733;SOR=0.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:23,11,21,0:55:99:.:.:1297,327,1077,0,509,974,1072,1212,998,1957	3	1	6	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	2703.98	18	chr19	17286690	.	GTT	*,G	2703.98	.	AC=19,8;AF=0.452,0.190;AN=42;BaseQRankSum=-1.400e-01;DP=1116;ExcessHet=3.1640;FS=12.346;InbreedingCoeff=-0.0816;MLEAC=19,7;MLEAF=0.452,0.167;MQ=59.97;MQRankSum=0.00;QD=4.53;ReadPosRankSum=0.510;SOR=0.209	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,44,11:55:99:.:.:2150,443,741,1699,0,1668	2	3	9	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	2556.62	16	chr19	17286692	.	T	*,G	2556.62	.	AC=29,9;AF=0.690,0.214;AN=42;BaseQRankSum=-3.190e-01;DP=1109;ExcessHet=0.6776;FS=2.075;InbreedingCoeff=-0.1052;MLEAC=29,9;MLEAF=0.690,0.214;MQ=59.98;MQRankSum=0.00;QD=3.57;ReadPosRankSum=1.19;SOR=0.451	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,55,0:55:99:.:.:2710,190,0,2599,220,2724	0	10	3	0
chr19	17727938	17727938	A	G	exonic	MAP1S	.	nonsynonymous SNV	MAP1S:NM_001308363:exon5:c.A2476G:p.T826A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.007	B	0.004	B	0.250	N	1.000	N	-0.14	N	2.41	T	-1.012	T	0.018	T	0.05	0.282	5.528	-0.513	-0.107	-0.022	3.069	0.006	0.00562466648117	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423428240	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.687	0.04340	T	0.869	0.03852	T	0.007	0.14184	B	0.004	0.10090	B	0.249943	0.03640	N	1.638310	1	0.08975	N	0.115	0.08564	N	2.41	0.15492	T	-0.3	0.12661	N	0.077	0.05162	-1.0115	0.26447	T	0.018	0.07329	T	10	0.049282044	0.04496	T	0.005625	0.14530	T	0.006	0.00375	0.253	0.19223	0.138757226776	0.13463	0.12005685619456798	0.11932	0.288792920878	0.31287	0.326857328415	0.14459	T	0.044539	0.26848	T	-0.396636	0.02436	T	-0.807516	0.01722	T	0.0148844715347292	0.00315	T	0.443356	0.12326	T	0.013861992	0.00072	0.018623823	0.00061	0.013861992	0.00072	0.018623823	0.00061	-2.51	0.05983	T	.	.	0.061	0.01092	B	.;.	.;.	0.646833	0.10153	6.896	0.26084419815383331	0.01233	0.14070	0.18206	N	AEFDGBCI	0.149617	0.27374	N	-1.56417805367276	0.01454	0.06342297	-1.53567801563424	0.02076	0.09494394	0.00285125304908809	0.09753	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.67	-0.513	0.11365	-0.012000	0.12637	1.755000	0.28506	-0.875000	0.02511	0.000000	0.06391	0.036000	0.21445	0.003000	0.05239	0.2062:0.3252:0.0:0.4686	3.069	0.05850	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1654.98	41	chr19	17727938	.	A	G	1654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.570e-01;DP=933;ExcessHet=0.0000;FS=1.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=-5.410e-01;SOR=0.565	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1669,0,1619	20	0	1	0
chr19	18219278	18219278	G	C	exonic	PDE4C	.	nonsynonymous SNV	PDE4C:NM_001369701:exon7:c.C229G:p.P77A	.	.	434	1075	13	0	0	13	0.00601017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	0.957	D	2.885	M	-0.3	T	0.336	D	0.569	D	0.476	2.463	14.19	4.53	2.072	4.274	14.765	0.343	0.128041420134	0.0018	0.00139776	0.0020	0.0002	0.0016	0	0.0014	0.0031	0.0011	0.0003	0.0019922	308	154602	rs147234546	0.0024	0.0024	0.0024	0.0023	0.0042	0.0023	0.0023	0.0029	0.0024	0.0003	0.0021	0.0152	0	0.0013	0.0042	0.0024	0.0031	0.0004	0.0020	0.0020	0.0020	0.0019	0.0024	0.0018	0.0017	0.0021	0.0020	0.0007	0	0.0022	0.0176	0	0.0010	0	0.0024	0.0019	0.0004	0.053	0.38863	T	0.039	0.52389	D	0.904	0.49848	P	0.103	0.30945	B	0.000002	0.62929	D	0.059348	0.957005	0.38002	D	2.38	0.68558	M	-0.63	0.72011	T	-5.3	0.84601	D	0.544	0.58031	0.336	0.88125	D	0.569	0.84395	D	10	0.011885911	0.00258	T	0.128041	0.80993	D	0.343	0.66488	.	.	0.912814792197	0.91193	0.5164798107132754	0.51570	1.12752289252	0.78496	0.461168706417	0.33470	T	0.354183	0.72137	T	-0.294429	0.09195	T	-0.198124	0.54824	T	0.0513903454280423	0.05743	T	0.918108	0.70532	D	0.3602891	0.57858	0.3591059	0.61375	0.3602891	0.57858	0.3591059	0.61374	-8.729	0.69267	D	.	.	0.133	0.38587	B	.;.;.;.;.;.	.;.;.;.;.;.	4.272984	0.65030	24.8	0.98128504727508492	0.38498	0.98328	0.81675	D	AEFDBI	0.781233	0.71288	D	0.32924278545193	0.57653	3.933662	0.315147164248647	0.56431	3.806229	0.616392387010096	0.21847	0.615465	0.37627	0	0.626922	0.53725	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	4.53	4.53	0.55009	4.370000	0.59288	8.150000	0.76709	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	14.765	0.69250	911	0.21964	.;.;.;.;.;.	.	.	.	.	.	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	1231.98	34	chr19	18219278	.	G	C	1231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=1.24;SOR=0.700	GT:AD:DP:GQ:PL	0/1:34,49:83:99:1246,0,816	20	0	1	0
chr19	18667405	18667405	G	C	exonic	KLHL26	.	nonsynonymous SNV	KLHL26:NM_001345985:exon3:c.G271C:p.E91Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000687497904195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.088e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.939587	0.26832	N	.	.	.	1.99	0.21666	T	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	0.083473	0.13890	T	6.87E-4	0.00418	T	.	.	.	.	0.359763055319	0.35592	.	.	.	.	.	.	.	0.013743	0.11830	T	-0.204846	0.20110	T	-0.532024	0.19085	T	.	.	.	0.323368	0.06588	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07460	B	.	.	-0.096785	0.03660	0.734	0.75824425077734603	0.11225	0.00145	0.00883	N	AEFBI	0.019080	0.00631	N	.	.	.	.	.	.	0.0726245442509791	0.15607	0.580535	0.33130	0	0.601575	0.49859	0	0.576033	0.28219	0	0.727631	0.95156	0	.	.	0.862	-0.602	0.11051	-1.114000	0.03404	-0.106000	0.11884	-0.566000	0.04804	0.002000	0.15269	0.002000	0.18203	0.031000	0.13245	0.4852:0.0:0.5148:0.0	2.631	0.04645	917	0.20147	.	.	.	.	.	.	Uncertain significance	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	296.0	38	chr19	18667405	.	G	C	296.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=670;ExcessHet=0.0000;FS=4.039;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-1.324e+00;SOR=1.863	GT:AD:DP:GQ:PL	0/1:15,11:26:99:310,0,405	20	0	1	0
chr19	20198071	20198071	G	T	exonic	ZNF486	.	nonsynonymous SNV	ZNF486:NM_052852:exon4:c.G1361T:p.R454I,	.	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.002	B	.	.	0.992	D	2.03	M	2.92	T	-1.057	T	0.025	T	0.198	-0.018	3.923	-0.442	0.192	-1.524	3.383	0.032	0.00112615754746	.	0.000798722	6.178e-05	0	0.0008	0	0	0	0	0	0.0001358	21	154602	rs546556139	9.229e-05	9.303e-05	7.805e-05	0.0001	0.0029	7.945e-05	7.416e-05	0.0025	0.0023	0.0001	0.0029	0	0	0	0	9.034e-07	6.665e-05	0	0.0011	0.0011	0.0007	0.0015	0.0108	0.0010	0.0009	0.0095	0.0090	4.815e-05	0	0.0108	0	0	0	0	0	0	0	0.323	0.13436	T	0.232	0.24987	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.992375	0.41628	D	2.085	0.57729	M	2.92	0.09915	T	-0.57	0.17210	N	0.175	0.18784	-1.0569	0.12543	T	0.025	0.10464	T	9	0.0068361163	0.00155	T	0.001126	0.01360	T	0.032	0.07718	0.624	0.75916	0.0986583533028	0.09354	0.01058962253952583	0.01019	0.00177889787293	0.00149	0.24459785223	0.03220	T	0.004021	0.03433	T	-0.608304	0.00130	T	-0.650554	0.08915	T	0.0244065184013429	0.01196	T	0.458954	0.13262	T	0.03534747	0.04144	0.03524559	0.02741	0.03534747	0.04144	0.03524559	0.02740	-4.674	0.33088	T	.	.	0.091	0.13127	B	.	.	-0.345811	0.02423	0.273	0.81839915397405882	0.13887	0.04544	0.10180	N	AEFBHCI	0.036649	0.04916	N	-0.836196919353042	0.12392	0.6037711	-0.909003614812255	0.11881	0.6080216	8.96675411636681E-6	0.01202	0.660377	0.49826	0	0.588015	0.36545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	0.85	-0.442	0.11641	-0.353000	0.07740	.	.	-0.642000	0.04431	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.6429:0.0:0.3571:0.0	3.383	0.06840	958	0.09170	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	1373.98	34	chr19	20198071	.	G	T	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.988e+00;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=-3.270e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/1:42,56:98:99:1388,0,1051	20	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18756.49	70	chr19	20624371	.	G	GA,*	18756.49	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=0.690;DP=1784;ExcessHet=0.5115;FS=0.701;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.42;MQRankSum=-3.529e+00;QD=16.03;ReadPosRankSum=1.59;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,91,0:91:99:1|1:20624371_G_GA:4013,274,0,4013,274,4013:20624371	0	4	3	7
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18081.55	70	chr19	20624379	.	C	T,*	18081.55	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=-4.660e-01;DP=1782;ExcessHet=0.5115;FS=0.686;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.41;MQRankSum=-3.245e+00;QD=15.23;ReadPosRankSum=-4.350e-01;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,90,0:90:99:1|1:20624371_G_GA:3852,264,0,3852,264,3852:20624371	0	4	3	7
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I,	.	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1507.17	46	chr19	21383191	.	G	A	1507.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.034e+00;DP=1693;ExcessHet=1.1607;FS=5.964;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=59.03;MQRankSum=-1.079e+01;QD=1.91;ReadPosRankSum=-1.253e+00;SOR=1.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,18:157:99:0|1:21383168_A_G:337,0,5782:21383168	15	0	5	1
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S,	.	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1201.17	46	chr19	21383196	.	T	C	1201.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=1.03;DP=1683;ExcessHet=1.1607;FS=6.327;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=59.06;MQRankSum=-1.086e+01;QD=1.53;ReadPosRankSum=-1.685e+00;SOR=1.443	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,13:156:99:0|1:21383168_A_G:115,0,5965:21383168	15	0	5	1
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	651.89	46	chr19	21383203	.	A	AACTC	651.89	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.261;DP=1551;ExcessHet=0.6776;FS=5.243;InbreedingCoeff=-0.1054;MLEAC=4;MLEAF=0.095;MQ=59.17;MQRankSum=-1.177e+01;QD=1.02;ReadPosRankSum=-1.741e+00;SOR=1.440	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,12:155:73:0|1:21383168_A_G:73,0,5968:21383168	17	0	4	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	617.28	46	chr19	21383205	.	GTCAA	G	617.28	.	AC=4;AF=0.100;AN=40;BaseQRankSum=4.39;DP=1537;ExcessHet=0.6776;FS=5.203;InbreedingCoeff=-0.1204;MLEAC=4;MLEAF=0.100;MQ=59.20;MQRankSum=-1.168e+01;QD=0.97;ReadPosRankSum=-1.938e+00;SOR=1.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,12:156:70:0|1:21383168_A_G:70,0,6010:21383168	16	0	4	1
chr19	21971982	21971982	C	G	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.G3052C:p.E1018Q,	.	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.034	B	0.029	B	.	.	1.000	N	.	.	3.11	T	-0.909	T	0.006	T	0.069	-0.922	0.395	-1.69	-0.488	-4.164	7.821	0.002	.	7.9e-05	0.00279553	0.0008	0	0	0.0110	0	3e-05	0	0.0003	0.0006531	17	26028	rs147587683	0.0005	0.0005	0.0005	0.0004	0.0144	0.0004	0.0004	0.0135	0.0131	0	0	7.659e-05	0.0144	0	0.0012	3.688e-05	0.0003	0.0004	0.0004	0.0004	0.0003	0.0005	0.0109	0.0003	0.0003	0.0086	0.0077	0	0	6.713e-05	0	0.0109	0	0	2.994e-05	0	0.0004	0.528	0.07071	T	0.613	0.08052	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.26	0.03792	N	3.11	0.08194	T	0.18	0.05035	N	0.084	0.06059	-0.9086	0.47025	T	0.006	0.01981	T	8	0.0075612366	0.00172	T	.	.	.	0.002	0.00045	.	.	0.0611884634855	0.05136	0.004480461146775183	0.00421	0.00859954335189	0.00783	0.456201434135	0.32791	T	0.001562	0.01004	T	-0.758583	0.00015	T	-0.854467	0.00905	T	0.0113266873565474	0.00168	T	0.0191981	0.00194	T	0.04120666	0.06027	0.027584784	0.00922	0.04120666	0.06027	0.027584784	0.00922	-8.425	0.63931	D	.	.	0.184	0.39915	B	.;.	.;.	-0.869215	0.00978	0.039	0.10733587385434182	0.00143	0.01285	0.04481	N	AEFBHCI	0.030660	0.03130	N	-1.2968048760855	0.03714	0.1664003	-1.41793932087278	0.03072	0.1426226	1.68742427206965E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.45	-1.69	0.07747	-2.876000	0.00786	.	.	-1.231000	0.01326	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.0:0.5569:0.0:0.4431	7.821	0.28450	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	2168.98	39	chr19	21971982	.	C	G	2168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=1675;ExcessHet=0.0000;FS=4.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.77;MQRankSum=1.55;QD=14.18;ReadPosRankSum=0.899;SOR=0.444	GT:AD:DP:GQ:PL	0/1:70,83:153:99:2183,0,1811	20	0	1	0
chr19	23223989	23223989	G	A	exonic	ZNF724	.	nonsynonymous SNV	ZNF724:NM_001355404:exon4:c.C256T:p.R86W	.	.	456	1059	7	0	0	7	0.00329412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.0	B	.	.	1.000	N	.	.	3.22	T	-0.934	T	0.013	T	0.153	-2.385	0.004	1.28	-0.264	0.325	3.320	0.029	.	.	0.000599042	0.0020	0.0002	0	0	0	0.0007	0	0.0110	0.0010155	157	154602	rs201600731	0.0009	0.0009	0.0006	0.0012	0.0062	0.0009	0.0008	0.0057	0.0055	0	0.0003	0.0030	0	0	0.0060	0.0002	0.0007	0.0062	0.0004	0.0004	0.0003	0.0005	0.0068	0.0003	0.0003	0.0050	0.0044	0	0	0.0002	0.0009	0	9.461e-05	0.0034	0.0002	0.0005	0.0068	1.0	0.00964	T	0.44	0.13328	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	10.42	0.00000	N	0.195	0.21449	-0.9345	0.43470	T	0.013	0.05273	T	8	0.005791247	0.00129	T	.	.	.	0.029	0.06676	0.361	0.36548	0.137902524267	0.13322	0.05825486345427175	0.05766	0.122939414534	0.13855	.	.	.	0.003592	0.03000	T	-0.645954	0.00077	T	-0.695095	0.06097	T	0.00172272489118834	0.00018	T	0.090191	0.02467	T	0.030656675	0.02766	0.030080814	0.01420	0.030656675	0.02766	0.030080814	0.01420	1.036	0.00127	T	.	.	0.071	0.06114	B	.;.;.	.;.;.	0.531392	0.09002	5.783	0.044671726736230974	0.00003	0.00075	0.00520	N	AEFBCI	0.020953	0.00882	N	-1.17255327450351	0.05418	0.2469752	-1.26992913276605	0.04843	0.2294047	3.04484372867719E-4	0.06454	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	1.28	1.28	0.20656	-0.301000	0.08269	.	.	-0.411000	0.05262	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.7289:0.0:0.2711:0.0	3.320	0.06634	988	0.01987	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1305.98	43	chr19	23223989	.	G	A	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=1373;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=-1.180e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1320,0,1000	20	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X,	.	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	8.340	40	4.72	2.174	8.944	17.685	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2050.0	174	chr19	32999679	.	G	A	2050.0	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.491e+00;DP=3802;ExcessHet=4.7172;FS=2.492;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=54.90;MQRankSum=-6.014e+00;QD=1.13;ReadPosRankSum=2.20;SOR=0.676	GT:AD:DP:GQ:PL	0/1:185,39:224:99:348,0,5085	12	0	9	0
chr19	35034040	35034040	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_199037:exon3:c.G749A:p.R250K,	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	1023	424	67	8	566	0.214286	.	.	142703	not_specified|Brugada_syndrome_5|not_provided	MedGen:CN169374|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.001	B	0.005	B	.	.	1.000	N	.	.	-2.5	D	-0.696	T	0.422	T	0.055	1.698	11.64	1.84	0.750	0.862	5.129	0.066	0.160508226875	.	.	0.0021	0	0	0	0	0	0	0.0056	0.0003493	54	154602	rs67486287	0.0004	0.0004	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0044	3.167e-05	0	0	0	0.0003	0.0012	8.535e-05	0.0003	0.0050	0.0002	0.0002	0.0003	0.0002	0.0036	0.0002	0.0001	0.0023	0.0019	7.222e-05	0	6.54e-05	0	0	0.0004	0	0.0001	0	0.0036	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	-2.5	0.89219	D	0.04	0.06488	N	0.128	0.12198	-0.6958	0.60638	T	0.422	0.76690	T	7	0.0056346953	0.00125	T	0.160508	0.84049	D	0.066	0.19193	.	.	0.838933210626	0.83739	0.21564272185818187	0.21480	0.808974901303	0.66653	0.322735607624	0.13834	T	.	.	.	-0.447311	0.01171	T	-0.414354	0.31723	T	0.0473435855948184	0.05026	T	0.30317	0.05747	T	.	.	.	.	.	.	.	.	-4.533	0.31318	T	.	.	0.140	0.30582	B	.;.	.;.	1.079695	0.14625	11.19	0.94618903739937421	0.25195	0.05869	0.11816	N	AEFDBI	.	.	.	-0.849269867299264	0.12067	0.5860141	-0.92625456353889	0.11475	0.5848372	0.617690011430573	0.21857	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.491896	0.07777	0	.	.	2.9	1.84	0.24348	0.409000	0.20803	1.480000	0.26815	0.665000	0.62972	0.004000	0.16614	0.005000	0.19230	0.005000	0.06747	0.1738:0.0:0.8262:0.0	5.129	0.14233	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.1429	11159.49	111	chr19	35034040	.	G	C,A	11159.49	.	AC=4,2;AF=0.095,0.048;AN=42;BaseQRankSum=-5.360e-01;DP=1237;ExcessHet=1.7912;FS=0.520;InbreedingCoeff=-0.1667;MLEAC=4,2;MLEAF=0.095,0.048;MQ=60.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=-2.200e-02;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:77,0,58:135:99:0|1:35034035_C_A:2193,2425,5623,0,3198,3023:35034035	15	0	4	0
chr19	36104523	36104523	C	A	exonic	WDR62	.	nonsynonymous SNV	WDR62:NM_001083961:exon31:c.C4159A:p.L1387I	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Autosomal recessive	.	0	1494	28	0	0	28	0.00928382	.	.	169536	not_specified|not_provided|Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.49	T	0.435	B	0.107	B	0.009	N	1.000	N	0.695	N	0.93	T	-1.026	T	0.083	T	0.079	0.667	7.574	2.22	0.759	0.680	6.144	0.043	0.0304345844044	0.0004	0.000798722	0.0010	0	0.0017	0	0	0.0008	0.0022	0.0028	0.0008991	139	154602	rs147652186	0.0005	0.0005	0.0005	0.0006	0.0069	0.0005	0.0005	0.0052	0.0046	0.0001	0.0009	0.0008	0	0	0.0069	0.0004	0.0010	0.0021	0.0005	0.0005	0.0006	0.0005	0.0019	0.0004	0.0004	0.0010	0.0007	0.0001	0	0.0003	0.0009	0.0002	0	0.0034	0.0007	0.0024	0.0019	0.554	0.06502	T	0.4	0.15010	T	0.435	0.35719	B	0.107	0.31211	B	0.008996	0.01226	N	2.611240	1	0.08975	N	1.59	0.40313	L	0.93	0.47477	T	-0.05	0.07736	N	0.136	0.16447	-1.0256	0.21886	T	0.083	0.32642	T	10	0.0052885413	0.00116	T	0.030435	0.52748	D	0.043	0.11576	.	.	0.300784259202	0.29686	0.03788552045407618	0.03734	0.531777514646	0.50659	0.334183216095	0.15565	T	8.6E-4	0.00434	T	-0.617959	0.00113	T	-0.665669	0.07889	T	0.0233234995645755	0.01062	T	0.472453	0.14032	T	0.043267965	0.06712	0.028746992	0.01140	0.039639484	0.05511	0.02602251	0.00671	-6.412	0.49618	T	.	.	0.091	0.13268	B	.;.	.;.	0.534570	0.09034	5.815	0.64237696321947724	0.07438	0.13797	0.18057	N	ALL	0.041564	0.06335	N	-0.835515986372514	0.12409	0.6047094	-0.876454074126796	0.12652	0.6521091	0.999999821045024	0.74766	0.631515	0.41029	0	0.577304	0.33150	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.34	2.22	0.27116	0.526000	0.22680	.	.	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7691:0.0:0.2309	6.144	0.19493	412	0.82007	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1225.98	34	chr19	36104523	.	C	A	1225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.490e-01;DP=801;ExcessHet=0.0000;FS=11.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=-3.200e-01;SOR=0.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,48:90:99:0|1:36104523_C_A:1240,0,1118:36104523	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|1:85,25:110:99:0|1:37887093_A_G:352,0,3151:37887093	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|1:85,25:110:99:0|1:37887093_A_G:352,0,3151:37887093	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|1:85,24:109:99:0|1:37887093_A_G:345,0,3153:37887093	1	0	15	5
chr19	39883323	39883323	G	C	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon19:c.C8512G:p.L2838V,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.997	D	0.995	D	.	.	1.000	N	2.225	M	3.54	T	-1.042	T	0.042	T	0.269	0.118	4.635	1.93	0.589	0.797	7.479	0.077	0.00158768810809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.535e-06	7.53e-06	5.045e-06	1.213e-05	0.0007	4.32e-06	3.15e-06	0.0002	9.856e-05	0	0	0	0	0	0.0007	6.442e-06	2.362e-05	0	0	1.99e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	3798.98	48	chr19	39883323	.	G	C	3798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.049e+00;DP=1991;ExcessHet=0.0000;FS=0.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.81;MQRankSum=-4.895e+00;QD=6.56;ReadPosRankSum=1.14;SOR=0.762	GT:AD:DP:GQ:PL	0/1:383,196:579:99:3813,0,11189	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:1865,129,0,1865,129,1865:40667975	4	8	8	0
chr19	40744680	40744680	G	A	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353805:exon4:c.C4T:p.R2W,	.	.	420	1058	41	3	0	47	0.0217291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.002	B	0.001	B	.	.	1.000	N	.	.	.	.	-0.990	T	0.090	T	.	3.183	16.65	-9.34	-1.768	-1.380	19.119	0.207	.	0.0037	0.00738818	0.0084	0.0005	0.0028	0.0001	0.0028	0.0053	0.0074	0.0413	0.0071603	1107	154602	rs73047039	0.0057	0.0057	0.0046	0.0067	0.0342	0.0056	0.0055	0.0332	0.0328	0.0005	0.0019	0.0123	5.043e-05	0.0021	0.0157	0.0039	0.0061	0.0342	0.0038	0.0038	0.0036	0.0039	0.0325	0.0035	0.0034	0.0284	0.0268	0.0007	0	0.0020	0.0121	0.0002	0.0029	0.0204	0.0040	0.0033	0.0325	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.32	0.36043	-0.9902	0.32551	T	0.090	0.34573	T	7	0.004359305	0.00089	T	.	.	.	.	.	.	.	0.0611884634855	0.05136	.	.	.	.	.	.	.	.	.	.	-0.685291	0.00045	T	-0.731387	0.04265	T	0.0130569372381809	0.00228	T	0.636336	0.25008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.29697	B	.	.	0.138148	0.05325	1.814	0.994728603804239	0.66419	0.01489	0.04946	N	ALL	0.047537	0.08015	N	-1.28611122526482	0.03842	0.1723511	-1.39020398705293	0.03355	0.1563541	0.999999999997689	0.74766	0.839682	0.99964	0	0.643519	0.57511	0	0.736553	0.94036	0	0.699908	0.69081	0	.	.	5.56	-9.34	0.00539	-1.494000	0.02401	.	.	-0.263000	0.06870	0.000000	0.06391	0.000000	0.08366	0.343000	0.25501	0.8088:0.0:0.1912:0.0	19.119	0.93338	493	0.76500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	479.98	27	chr19	40744680	.	G	A	479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.503e+00;DP=714;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=1.86;SOR=0.555	GT:AD:DP:GQ:PL	0/1:19,22:41:99:494,0,509	20	0	1	0
chr19	40800650	40800650	G	C	exonic	EGLN2	.	nonsynonymous SNV	EGLN2:NM_053046:exon2:c.G78C:p.E26D	.	.	417	1085	20	0	0	20	0.00913242	.	.	741905	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	0.005	N	0.991	N	0.345	N	1.94	T	-1.021	T	0.026	T	0.155	0.690	7.686	0.046	0.132	0.170	.	0.025	.	0.0006	0.00399361	0.0028	9.917e-05	0.0004	0.0001	0.0002	0.0008	0.0047	0.0163	0.0024515	379	154602	rs73047080	0.0014	0.0014	0.0010	0.0019	0.0152	0.0014	0.0014	0.0145	0.0142	0.0001	0.0002	0.0043	0	7.512e-05	0.0069	0.0005	0.0017	0.0152	0.0009	0.0009	0.0009	0.0009	0.0147	0.0008	0.0007	0.0120	0.0110	0.0001	0	0.0003	0.0020	0	0	0.0136	0.0006	0.0014	0.0147	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.005365	0.32858	N	0.200262	0.990905	0.24109	N	0.55	0.14455	N	1.94	0.22678	T	-0.13	0.08971	N	0.129	0.12341	-1.0206	0.23519	T	0.026	0.11264	T	7	0.003999889	0.00077	T	.	.	.	0.025	0.05312	0.117	0.02508	0.456647468687	0.45291	0.11087046075374986	0.11016	0.508924225675	0.49035	0.592218577862	0.51808	T	0.261926	0.63345	T	-0.550966	0.00288	T	-0.551227	0.17209	T	0.0171338292415777	0.00458	T	0.469553	0.13966	T	0.10713312	0.25332	0.10244342	0.24554	0.10713312	0.25331	0.10244342	0.24554	-4.025	0.24177	T	.	.	0.116	0.26762	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.216571	0.28284	17.75	0.97879448873417629	0.36594	0.20637	0.21114	N	AEFDBCI	0.101483	0.20381	N	-0.605174886077519	0.18788	0.97824	-0.699690217910423	0.16968	0.9001154	0.999998765061	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	0.046	0.046	0.13572	0.171000	0.16497	.	.	0.171000	0.17763	0.368000	0.25908	0.999000	0.35428	0.907000	0.44265	.	.	.	507	0.75469	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	664.98	34	chr19	40800650	.	G	C	664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.010e+00;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=-3.840e-01;SOR=0.588	GT:AD:DP:GQ:PL	0/1:45,30:75:99:679,0,1258	20	0	1	0
chr19	41124737	41124737	T	A	exonic	CYP2F1	.	nonsynonymous SNV	CYP2F1:NM_000774:exon8:c.T983A:p.I328N,	.	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.000	U	0.998	D	4.065	H	-0.81	T	0.450	D	0.670	D	0.537	1.423	10.70	3.13	1.322	4.618	9.453	0.625	0.131521775098	7.7e-05	.	0.0008	0	0.0003	0	0	0.0003	0.0027	0.0040	0.0005369	83	154602	rs372824170	0.0005	0.0005	0.0003	0.0006	0.0050	0.0004	0.0004	0.0046	0.0045	5.98e-05	8.969e-05	0	7.565e-05	0	0.0026	0.0002	0.0003	0.0050	0.0002	0.0002	0.0001	0.0003	0.0046	0.0002	0.0001	0.0031	0.0026	0	0	0.0001	0	0	0	0	0.0001	0	0.0046	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000014	0.62929	U	0.064580	0.998183	0.44603	D	3.545	0.93219	H	-0.81	0.73949	T	-6.41	0.91226	D	0.883	0.88137	0.450	0.89836	D	0.670	0.88579	D	10	0.18624687	0.34081	T	0.131522	0.81378	D	0.625	0.85511	.	.	0.911612100983	0.91072	0.8242532732302961	0.82383	1.43972300734	0.85949	0.700266003609	0.67181	T	0.121749	0.44492	T	-0.226669	0.17092	T	-0.0981039	0.63543	T	0.290959605107801	0.24629	T	0.911809	0.68723	D	0.97551733	0.98750	0.92435706	0.96703	0.97551733	0.98750	0.92435706	0.96704	-12.563	0.87485	D	.	.	0.796	0.77098	P	.	.	3.772468	0.54193	23.5	0.81645528404771683	0.13789	0.94309	0.60756	D	AEFDBHI	0.383504	0.46499	N	0.514445937641141	0.67943	5.149642	0.304720625583079	0.55816	3.744488	0.987211036396077	0.31212	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	3.13	3.13	0.35090	4.830000	0.62434	1.355000	0.25837	0.310000	0.19122	1.000000	0.71638	0.957000	0.29195	0.233000	0.22815	0.0:0.0:0.0:1.0	9.453	0.37903	711	0.56613	.	.	.	.	.	.	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	1446.98	33	chr19	41124737	.	T	A	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-1.860e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/1:60,58:118:99:1461,0,1410	20	0	1	0
chr19	41579527	41579527	C	T	exonic	CEACAM21	.	nonsynonymous SNV	CEACAM21:NM_001098506:exon3:c.C599T:p.T200I	.	.	425	1086	11	0	0	11	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.988	D	0.838	P	.	.	1.000	N	1.915	M	2.77	T	-1.052	T	0.039	T	0.236	1.545	11.12	-3.53	-0.535	-0.215	2.908	0.035	0.00154109281056	0.0014	0.000599042	0.0012	0	0.0005	0	0	0.0019	0.0026	0.0009	0.0009573	148	154602	rs139036367	0.0009	0.0009	0.0008	0.0009	0.0043	0.0008	0.0008	0.0030	0.0026	0.0001	0.0005	0.0017	0	1.873e-05	0.0043	0.0009	0.0014	0.0008	0.0008	0.0008	0.0009	0.0007	0.0014	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0008	0.0006	0	9.42e-05	0	0.0014	0.0019	0.0004	0.053	0.38863	T	0.291	0.28482	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.77	0.11407	T	-4.72	0.79998	D	0.09	0.06990	-1.0516	0.13954	T	0.039	0.16978	T	9	0.015399635	0.00323	T	0.001541	0.02420	T	0.035	0.08770	.	.	0.0482279557977	0.04254	0.3101955809135996	0.30932	0.13162313656	0.14841	.	.	.	.	.	.	-0.569624	0.00222	T	-0.615629	0.11532	T	0.136128589510918	0.15938	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.52385	B	.;.;.	.;.;.	0.156737	0.05477	1.946	0.98514453608873587	0.42386	0.00329	0.01719	N	AEFBI	0.026900	0.02103	N	-0.824227230968977	0.12692	0.6203225	-1.10763120710169	0.07553	0.3678649	4.07064757860546E-4	0.06860	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	3.34	-3.53	0.04369	-0.306000	0.08217	-10.165000	0.00732	-1.699000	0.00759	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1495:0.3703:0.3662:0.114	2.908	0.05377	849	0.35778	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3758.11	39	chr19	41579527	.	C	T	3758.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.76;DP=1194;ExcessHet=0.1072;FS=0.385;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=-4.280e-01;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,74:177:99:.:.:1903,0,2705	19	0	2	0
chr19	41879134	41879134	C	T	exonic	CD79A	.	nonsynonymous SNV	CD79A:NM_001783:exon2:c.C224T:p.T75M	Agammaglobulinemia 3, Autosomal recessive	.	1	1515	6	0	0	6	0.00197628	.	.	847733	Agammaglobulinemia_3,_autosomal_recessive	MONDO:MONDO:0013288,MedGen:C3150751,OMIM:613501	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.978	D	0.199	N	1.000	N	1.845	L	-0.27	T	-0.818	T	0.437	T	0.195	3.133	16.47	2.94	0.855	0.262	7.713	0.111	0.0507784510644	7.7e-05	0.000199681	0.0002	0	0.0003	0	0	0.0002	0	0.0007	0.0002199	34	154602	rs199967393	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	8.961e-05	0.0004	0	0	0	0.0003	0.0002	6.623e-05	0.0010	0.0001	0.0001	7.709e-05	0.0002	0.0008	7.571e-05	6.277e-05	0.0003	0.0002	2.406e-05	0	0.0002	0	0	0	0	0.0001	0.0009	0.0008	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.978	0.74104	D	0.198799	0.03304	N	1.611670	1	0.08975	N	2.545	0.74286	M	-0.27	0.83495	T	-1.94	0.45042	N	0.339	0.40063	-0.8176	0.54084	T	0.437	0.77683	T	10	0.040852368	0.02689	T	0.050778	0.64384	D	0.111	0.31313	.	.	0.695827863048	0.69320	0.5087870767544855	0.50800	1.22473152856	0.81168	0.322327494621	0.13773	T	0.454426	0.79398	T	-0.332204	0.05946	T	-0.310563	0.43597	T	0.107463891613838	0.13158	T	0.640436	0.25296	T	0.06258773	0.13090	0.103222735	0.24760	0.06258773	0.13089	0.103222735	0.24760	-7.286	0.56096	T	0.3400259700653841	0.43779	0.321	0.71599	B	.;.;.	.;.;.	2.479153	0.31965	18.90	0.99681018314477998	0.79241	0.06781	0.12804	N	AEFBCI	0.068911	0.13615	N	-0.286790142631961	0.29656	1.646629	-0.486532305239655	0.22524	1.223806	0.999917608058765	0.45857	0.542737	0.22433	0	0.685571	0.66316	0	0.48864	0.07692	0	0.567892	0.33627	0	.	.	5.06	2.94	0.33188	0.045000	0.13898	0.703000	0.20862	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.8112:0.0:0.1888	7.713	0.27853	739	0.53257	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3096.98	33	chr19	41879134	.	C	T	3096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=936;ExcessHet=0.0000;FS=5.353;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.777e+00;SOR=0.876	GT:AD:DP:GQ:PL	0/1:104,128:232:99:3111,0,2249	20	0	1	0
chr19	43991910	43991910	G	A	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon4:c.G211A:p.A71T	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.044	B	0.027	B	.	.	1.000	N	1.37	L	3.49	T	-0.963	T	0.015	T	0.061	0.493	6.676	1.64	1.202	0.042	6.716	0.030	0.000617934799173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.736e-06	2.723e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	0.18122	T	0.537	0.11691	T	0.044	0.21686	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	0.675	0.16386	N	5.32	0.05188	T	-1.58	0.38151	N	0.166	0.17966	-0.9628	0.38645	T	0.015	0.06090	T	9	0.075161904	0.11581	T	6.18E-4	0.00303	T	0.030	0.07022	0.293	0.25560	0.112648838833	0.10856	0.01597857260087992	0.01553	0.0365107702582	0.03864	0.225918754935	0.01680	T	0.004198	0.03611	T	-0.37331	0.03430	T	-0.77401	0.02639	T	0.0426595354315809	0.04176	T	0.205679	0.02659	T	0.034619763	0.03919	0.063095294	0.12448	0.034619763	0.03918	0.063095294	0.12447	-6.006	0.46330	T	.	.	0.072	0.12132	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.471152	0.08407	5.163	0.76172498514546483	0.11361	0.06059	0.12030	N	AEFBCI	0.024760	0.01583	N	-0.944018625919644	0.09827	0.4668567	-1.03455082915869	0.09031	0.4471178	0.00624437824222985	0.11166	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.64	1.64	0.22949	-0.118000	0.10665	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.282000	0.24066	0.0:0.0:1.0:0.0	6.716	0.22492	630	0.65016	Krueppel-associated box;Krueppel-associated box;Krueppel-associated box;.;Krueppel-associated box;Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	10232.11	299	chr19	43991910	.	G	A	10232.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.480e-01;DP=3912;ExcessHet=0.1072;FS=1.722;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=1.00;SOR=0.744	GT:AD:DP:GQ:PL	0/1:209,198:407:99:4974,0,5362	19	0	2	0
chr19	44011364	44011364	A	G	exonic	ZNF230	.	nonsynonymous SNV	ZNF230:NM_006300:exon5:c.A1325G:p.H442R,	.	.	440	1076	5	1	0	7	0.00324224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.001	B	0.003	B	.	.	1.000	D	4.145	H	1.59	T	-0.913	T	0.141	T	0.234	1.576	11.22	1.5	0.209	1.502	6.790	0.159	0.00157214353116	.	.	1.66e-05	0	0	0	0	1.509e-05	0	6.063e-05	1.29e-05	2	154602	rs770936756	1.642e-05	1.642e-05	1.497e-05	1.788e-05	0.0002	1.111e-05	9.33e-06	1.175e-05	9.55e-06	0	2.236e-05	0	0	0	0.0002	1.799e-05	1.656e-05	1.16e-05	6.568e-06	6.566e-06	0	1.345e-05	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.013	0.53900	D	0.002	0.79402	D	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	0.999993	0.08975	N	4.07	0.97156	H	1.59	0.28836	T	-6.79	0.92863	D	0.17	0.18103	-0.9134	0.46428	T	0.141	0.46072	T	9	0.1297327	0.24687	T	0.001572	0.02497	T	0.159	0.41286	0.466	0.53729	0.259272394797	0.25527	0.03290536355076539	0.03238	0.154306874137	0.17424	0.348929315805	0.17765	T	0.151736	0.49181	T	-0.2546	0.13539	T	-0.506637	0.21661	T	0.177938048459163	0.19104	T	0.39556	0.09932	T	0.16275512	0.36372	0.19567868	0.43258	0.16275512	0.36372	0.19567868	0.43257	-6.062	0.46795	T	.	.	0.076	0.05890	B	.	.	0.444720	0.08149	4.881	0.66919653141000479	0.08200	0.00113	0.00716	N	AEFBCI	0.055869	0.10283	N	-0.809553060770685	0.13065	0.6410902	-0.957673118239309	0.10746	0.5431695	0.0115593246302031	0.12202	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.55	1.5	0.22029	0.884000	0.27851	.	.	-0.589000	0.04658	0.000000	0.06391	0.005000	0.19230	0.004000	0.06068	0.8735:0.0:0.1265:0.0	6.790	0.22882	599	0.68140	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2769.11	33	chr19	44011364	.	A	G	2769.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.606;DP=926;ExcessHet=0.1072;FS=1.584;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-3.230e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1321,0,1533	19	0	2	0
chr19	44387371	44387371	C	T	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291491:exon3:c.G409A:p.E137K	.	.	428	1088	5	1	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.001	B	.	.	1.000	N	1.91	M	3.3	T	-0.919	T	0.016	T	0.169	1.942	12.45	-5.86	-0.747	-0.145	2.334	0.031	0.00151343146227	.	0.000199681	8.363e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs531028922	6.156e-06	6.156e-06	4.084e-06	8.25e-06	5.038e-05	2.9e-06	2.1e-06	8.35e-06	3.12e-06	2.987e-05	2.236e-05	0	5.038e-05	0	0	0	4.967e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.54e-05	0	0	0	0	0	0	0.0002	.	.	.	0.152	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.3	0.06368	T	.	.	.	0.123	0.17140	-0.9186	0.45743	T	0.016	0.06329	T	9	0.07002258	0.10129	T	0.001513	0.02343	T	0.031	0.07369	0.445	0.50302	0.0716867268079	0.06686	0.03171292967658753	0.03120	.	.	.	.	.	.	.	.	-0.32392	0.06581	T	-0.703065	0.05660	T	0.0328854026497822	0.02452	T	0.19978	0.02250	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12228	B	.;.;.	.;.;.	0.500049	0.08693	5.464	0.92571330580662348	0.22026	0.03944	0.09342	N	AEFDGBI	0.056138	0.10355	N	-1.32528951473618	0.03388	0.1512664	-1.48550365619622	0.02462	0.1133123	0.00145570027841714	0.08551	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.37	-5.86	0.02114	-0.490000	0.06562	.	.	-1.436000	0.01109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1203:0.4325:0.1187:0.3285	2.334	0.03984	912	0.21483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	3023.82	45	chr19	44387371	.	C	T	3023.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=3.81;DP=1358;ExcessHet=0.1128;FS=0.450;InbreedingCoeff=-0.0526;MLEAC=2;MLEAF=0.050;MQ=55.16;MQRankSum=-5.570e-01;QD=11.45;ReadPosRankSum=1.68;SOR=0.653	GT:AD:DP:GQ:PL	0/1:79,60:139:99:1586,0,1871	18	0	2	1
chr19	45382684	45382684	T	C	exonic	PPP1R13L	.	nonsynonymous SNV	PPP1R13L:NM_001142502:exon12:c.A2291G:p.Y764C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.998	D	0.000	D	1.000	D	2.91	M	2.28	T	-0.872	T	0.135	T	0.768	2.819	15.39	4.61	1.708	5.649	11.970	0.350	0.0689361778245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.019	0.59159	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.515	0.38264	L	2.28	0.17271	T	-7.59	0.95305	D	0.71	0.71321	-0.8722	0.50364	T	0.135	0.44875	T	10	0.80727684	0.80052	D	0.068936	0.70589	D	0.350	0.67142	0.503	0.59615	0.776606504809	0.77455	0.9295045597685343	0.92928	1.40683877804	0.85340	0.846387863159	0.89069	D	0.590991	0.86750	D	0.0350024	0.56388	T	-0.187498	0.55824	T	0.995670318603516	0.87860	D	0.965903	0.87416	D	0.7791217	0.82600	0.34239444	0.59966	0.7791217	0.82602	0.34239444	0.59965	-9.101	0.68343	D	.	.	0.636	0.70369	P	.;.	.;.	4.257522	0.64674	24.7	0.99383757703993891	0.62024	0.93944	0.59646	D	AEFDGBI	0.829285	0.74822	D	0.686138829603942	0.78724	6.929626	0.603662364291024	0.75206	6.269628	0.999742987359126	0.42466	0.706548	0.73137	0	0.693144	0.66847	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.61	4.61	0.56724	4.866000	0.62702	4.114000	0.41935	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.0:1.0	11.970	0.52347	845	0.36510	SH3 domain|SH3 domain|SH3 domain;SH3 domain|SH3 domain|SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2083.98	34	chr19	45382684	.	T	C	2083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.664;DP=902;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=-1.355e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/1:98,93:191:99:2098,0,2181	20	0	1	0
chr19	46347140	46347140	C	G	exonic	PPP5C	.	nonsynonymous SNV	PPP5C:NM_001204284:exon1:c.C44G:p.P15R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.099	B	0.003	B	0.796	U	1.000	D	0	N	3.56	T	-0.934	T	0.009	T	0.338	1.750	11.81	2.25	0.728	.	10.489	0.057	0.0246934212874	.	.	1.529e-05	0	0	0	0	0	0	8.996e-05	6.5e-06	1	154602	rs781518780	1.101e-05	1.094e-05	1.094e-05	1.108e-05	2.359e-05	6.52e-06	5.28e-06	5.77e-06	4.56e-06	0	0	0	0	0	0	1.083e-05	3.334e-05	2.359e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.058	0.37750	T	0.319	0.19188	T	0.026	0.19406	B	0.002	0.06944	B	0.795638	0.09363	U	0.866069	0.582391	0.81001	D	1.355	0.33814	L	3.56	0.04696	T	-0.65	0.18877	N	0.204	0.22614	-0.9343	0.43500	T	0.009	0.03315	T	10	0.1773321	0.32763	T	0.024693	0.47677	T	0.057	0.16321	0.278	0.23164	0.23798241625	0.23396	0.36878477754257155	0.36792	0.734854661864	0.62927	0.665435135365	0.62186	T	0.366627	0.73184	T	-0.250303	0.14059	T	-0.492034	0.23177	T	0.210142329335213	0.20961	T	0.556144	0.19298	T	0.07823419	0.17803	0.12434414	0.29972	0.07823419	0.17803	0.12434414	0.29971	-3.982	0.23533	T	.	.	0.071	0.03698	B	.	.	3.480694	0.48608	22.6	0.933825776721809	0.23133	0.87741	0.47384	D	AEFGBHCIJ	0.313501	0.41863	N	-0.633145689422323	0.17954	0.9283253	-0.489261716367701	0.22449	1.219351	0.999999999695259	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.3	2.25	0.27340	1.340000	0.33501	5.902000	0.50901	-0.177000	0.10537	0.997000	0.40164	1.000000	0.68203	0.712000	0.34516	0.0:0.7999:0.2001:0.0	10.489	0.43928	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	667.98	33	chr19	46347140	.	C	G	667.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.647;DP=802;ExcessHet=0.0000;FS=0.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.15;ReadPosRankSum=0.310;SOR=0.582	GT:AD:DP:GQ:PL	0/1:53,29:82:99:682,0,1348	20	0	1	0
chr19	47781161	47781161	G	A	exonic	SELENOW	.	unknown	UNKNOWN,	.	.	421	1097	3	1	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0057	0.00199681	0.0038	0.0004	0.0045	0	0.0041	0.0054	0.0067	0.0005	0.0039844	616	154602	rs191827128	0.0062	0.0062	0.0063	0.0061	0.0072	0.0061	0.0060	0.0071	0.0070	0.0010	0.0043	0.0054	0	0.0029	0.0055	0.0072	0.0061	0.0007	0.0046	0.0046	0.0046	0.0046	0.0067	0.0043	0.0042	0.0062	0.0060	0.0015	0.0252	0.0053	0.0058	0	0.0030	0	0.0067	0.0085	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2954.98	45	chr19	47781161	.	G	A	2954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.88;DP=985;ExcessHet=0.0000;FS=2.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=1.44;SOR=0.892	GT:AD:DP:GQ:PL	0/1:108,115:223:99:2969,0,2541	20	0	1	0
chr19	47801819	47801819	C	T	exonic	TPRX1	.	nonsynonymous SNV	TPRX1:NM_198479:exon2:c.G1192A:p.V398M,	.	.	150	1353	17	2	0	21	0.00770077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.982	D	0.651	P	.	.	1.000	N	0	N	-2.13	D	-0.196	T	0.606	D	0.052	1.569	11.20	1.17	0.988	0.305	5.719	0.232	.	7.7e-05	0.00199681	0.0013	0	0.0003	0.0001	0	0.0002	0	0.0085	0.0011319	175	154602	rs200596763	0.0006	0.0006	0.0005	0.0008	0.0080	0.0006	0.0006	0.0075	0.0073	2.987e-05	0.0002	0.0014	0	0	0.0035	0.0001	0.0008	0.0080	0.0004	0.0004	0.0002	0.0005	0.0077	0.0003	0.0003	0.0057	0.0050	0	0.0011	0.0003	0.0012	0	0	0.0068	0.0001	0.0005	0.0077	0.0	0.91255	D	0.0	0.92824	D	0.982	0.60036	D	0.651	0.52497	P	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-2.13	0.93787	D	-0.73	0.22944	N	0.152	0.27554	-0.1956	0.77785	T	0.606	0.86026	D	9	0.0067352355	0.00153	T	.	.	.	0.232	0.53354	.	.	0.438383285633	0.43460	0.23392375633718906	0.23307	0.356072466805	0.37361	0.353152483702	0.18385	T	0.010224	0.09867	T	-0.409433	0.02005	T	-0.355631	0.38558	T	0.0942091338508487	0.11708	T	0.551245	0.19298	T	0.0836681	0.19330	0.09419711	0.22286	0.0836681	0.19329	0.09419711	0.22286	-2.25	0.04290	T	.	.	0.115	0.32445	B	.;.;.	.;.;.	1.534584	0.19684	14.39	0.9906700246732445	0.51621	0.01377	0.04694	N	AEFI	0.030052	0.02951	N	-0.598586907107626	0.18987	0.9902548	-0.800681159278093	0.14479	0.7567325	1.94653767318945E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.17	1.17	0.19998	0.305000	0.19006	-0.102000	0.11930	0.328000	0.19510	0.016000	0.19238	0.001000	0.17328	0.066000	0.16387	0.0:1.0:0.0:0.0	5.719	0.17248	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1267.98	33	chr19	47801819	.	C	T	1267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.845;DP=789;ExcessHet=0.0000;FS=4.343;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.92;ReadPosRankSum=0.703;SOR=1.189	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1282,0,916	20	0	1	0
chr19	49016232	49016232	G	A	exonic	LHB	.	nonsynonymous SNV	LHB:NM_000894:exon3:c.C262T:p.R88W,	Hypogonadotropic hypogonadism 23 with or without anosmia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	742047	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.057	B	0.009	B	0.520	N	1.000	N	3.205	M	-2.83	D	0.147	D	0.738	D	0.248	0.937	8.819	3.67	1.116	1.652	9.438	0.320	0.210042278878	.	0.000199681	0.0004	0	0	0.0055	0	3.022e-05	0	0.0001	0.0003493	54	154602	rs146251380	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	0.0001	0.0027	0.0025	2.991e-05	4.473e-05	0	0.0031	0	0.0002	7.735e-05	0.0001	0.0001	0.0002	0.0002	7.708e-05	0.0003	0.0052	0.0002	0.0001	0.0037	0.0032	0	0	6.533e-05	0	0.0052	0	0	2.941e-05	0.0005	0.0002	0.011	0.55530	D	0.001	0.83351	D	0.057	0.22878	B	0.009	0.14300	B	0.519948	0.11753	N	0.779549	0.999927	0.19486	N	2.53	0.73802	M	-2.83	0.91249	D	-4.98	0.82141	D	0.258	0.29197	0.147	0.85013	D	0.738	0.91047	D	10	0.023076266	0.00593	T	0.210042	0.87231	D	0.320	0.64215	.	.	0.881783468173	0.88062	0.41287213845133647	0.41203	0.0857855291812	0.09691	0.327191144228	0.14510	T	0.861376	0.96927	D	-0.263277	0.12520	T	-0.146671	0.59538	T	0.0922612855067189	0.11483	T	0.753825	0.37593	T	0.57365566	0.71260	0.5022225	0.71225	0.57365566	0.71261	0.5022225	0.71225	-8.637	0.65333	D	0.3886237931904241	0.48209	0.115	0.23113	B	.;.	.;.	3.316552	0.45594	22.2	0.99232848846849642	0.56278	0.30691	0.24147	N	AEFDGBHCI	0.234674	0.35739	N	-0.476291694801702	0.22859	1.223562	-0.505411360364221	0.22006	1.193167	0.990738750700466	0.32251	0.413467	0.06321	2	0.573116	0.20632	0	0.486962	0.07600	0	0.714379	0.83352	0	.	.	4.71	3.67	0.41236	1.608000	0.36458	8.320000	0.76961	-0.103000	0.15852	0.169000	0.23921	1.000000	0.68203	0.031000	0.13245	0.1007:0.0:0.8993:0.0	9.438	0.37814	744	0.52588	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	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	1235.98	42	chr19	49016232	.	G	A	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=859;ExcessHet=0.0000;FS=6.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.18;ReadPosRankSum=0.821;SOR=0.238	GT:AD:DP:GQ:PL	0/1:26,42:68:99:1250,0,639	20	0	1	0
chr19	51337343	51337343	C	T	exonic	VSIG10L	.	nonsynonymous SNV	VSIG10L:NM_001163922:exon7:c.G2200A:p.V734M,	.	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.997	D	0.791	P	0.031	N	0.979	N	1.845	L	1.96	T	-1.077	T	0.079	T	0.254	2.840	15.46	3.72	0.952	1.452	8.126	0.045	0.0535984615257	0.0015	0.000599042	0.0016	0	0	0	0	0.0023	0	0.0015	0.0005175	80	154602	rs201902240	0.0017	0.0017	0.0017	0.0018	0.0042	0.0017	0.0016	0.0029	0.0025	0.0003	0.0004	0.0056	0.0001	0.0005	0.0042	0.0018	0.0014	0.0018	0.0014	0.0014	0.0015	0.0013	0.0023	0.0012	0.0012	0.0020	0.0018	0.0005	0	0.0002	0.0060	0.0004	0.0003	0.0034	0.0023	0.0009	0.0017	0.017	0.51248	D	0.012	0.63918	D	0.997	0.70673	D	0.791	0.57754	P	0.030603	0.25284	N	0.194660	0.978791	0.25225	N	2.135	0.59519	M	1.96	0.22270	T	-1.02	0.26843	N	0.291	0.32921	-1.0771	0.07922	T	0.079	0.31526	T	10	0.009048849	0.00205	T	0.053598	0.65530	D	0.045	0.12272	.	.	0.0611884634855	0.05136	0.49199537965268514	0.49120	.	.	0.540010452271	0.44446	T	0.014558	0.12369	T	-0.497674	0.00589	T	-0.494127	0.22959	T	0.0125632632847029	0.00209	T	0.715628	0.32820	T	0.05394844	0.10284	0.068334304	0.14257	0.05394844	0.10283	0.068334304	0.14257	-5.951	0.45867	T	.	.	0.237	0.47061	B	.	.	3.065167	0.41183	21.3	0.99814673526703024	0.89797	0.47945	0.28096	N	AEFDBI	0.099837	0.20088	N	0.121476361095564	0.47466	2.971915	0.0178535972260213	0.40544	2.421361	0.982761246064069	0.30451	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.76	3.72	0.41857	1.489000	0.35170	.	.	0.596000	0.33519	0.855000	0.30528	0.994000	0.32194	0.074000	0.16894	0.0:0.8834:0.0:0.1166	8.126	0.30161	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	0	0	0	0	0.02381	1703.98	36	chr19	51337343	.	C	T	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=835;ExcessHet=0.0000;FS=1.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=-4.280e-01;SOR=0.906	GT:AD:DP:GQ:PL	0/1:57,59:116:99:1718,0,1491	20	0	1	0
chr19	52115218	52115218	C	T	exonic	ZNF616	.	nonsynonymous SNV	ZNF616:NM_178523:exon4:c.G1946A:p.R649K,	.	.	409	1081	30	2	0	34	0.0154827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.003	B	0.001	B	.	.	1.000	N	-0.255	N	.	.	-1.033	T	0.023	T	0.048	0.379	6.060	-3.85	-1.759	-5.613	5.340	0.003	.	0.0044	0.00419329	0.0049	0.0011	0.0039	0	0.0002	0.0062	0.0088	0.0068	0.0047541	735	154602	rs45622033	0.0057	0.0057	0.0057	0.0058	0.0130	0.0056	0.0056	0.0106	0.0098	0.0007	0.0049	0.0051	0	0.0004	0.0130	0.0063	0.0057	0.0068	0.0042	0.0042	0.0043	0.0041	0.0065	0.0039	0.0038	0.0060	0.0058	0.0008	0	0.0060	0.0046	0	0.0006	0.0204	0.0065	0.0071	0.0064	.	.	.	0.531	0.10069	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.425	0.12573	N	3.22	0.07024	T	.	.	.	0.056	0.02759	-1.0327	0.19586	T	0.023	0.09878	T	8	0.004916489	0.00105	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.03217921690351515	0.03165	0.0669319524144	0.07465	0.216768398881	0.01132	T	8.08E-4	0.00390	T	-0.771328	0.00013	T	-0.876731	0.00682	T	0.00221911122000697	0.00023	T	0.80082	0.44648	T	0.032995433	0.03432	0.04251082	0.05079	0.032995433	0.03432	0.04251082	0.05079	-6.572	0.50839	T	.	.	0.156	0.34536	B	.	.	-0.419110	0.02142	0.206	0.80935089646853298	0.13440	0.00002	0.00064	N	AEFBHCI	0.025855	0.01841	N	-1.6336972419401	0.01105	0.04799848	-1.73896296541276	0.00975	0.04369867	0.0330489298285474	0.14086	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	1.93	-3.85	0.03964	-4.150000	0.00323	.	.	-0.515000	0.04990	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.319:0.2971:0.3839:0.0	5.340	0.15282	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1109.98	33	chr19	52115218	.	C	T	1109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.621e+00;DP=866;ExcessHet=0.0000;FS=0.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=0.683;SOR=0.579	GT:AD:DP:GQ:PL	0/1:59,45:104:99:1124,0,1752	20	0	1	0
chr19	52384817	52384817	-	TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG:p.C413Ffs*26,	.	.	356	750	399	11	6	427	0.219157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	9.004e-05	0.0002	0	0.0002	0.0011	0.0001	.	.	.	.	0.0011	0.0034	0.0011	0.0011	0.0017	0.0011	0.0010	0.0015	0.0014	0.0015	0.0014	0.0027	0.0017	0.0016	0.0012	0.0009	0.0017	0.0017	0.0051	0.0069	0.0056	0.0045	0.0071	0.0048	0.0046	0.0051	0.0050	0.0046	0.0045	0.0056	0.0051	0.0026	0.0033	0.0106	0.0056	0.0030	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8259.44	38	chr19	52384817	.	T	TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG,TTTGGGAGGCCGAGGCGG	8259.44	.	AC=1,11;AF=0.024,0.262;AN=42;BaseQRankSum=2.83;DP=1581;ExcessHet=9.6308;FS=104.319;InbreedingCoeff=-0.4000;MLEAC=1,11;MLEAF=0.024,0.262;MQ=58.44;MQRankSum=-8.940e-01;QD=11.25;ReadPosRankSum=-1.179e+00;SOR=7.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:21,0,25:46:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:975,1050,1946,0,896,821:52384817	9	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC:p.K415Sfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779596445	0.0025	0.0048	0.0023	0.0026	0.0055	0.0024	0.0024	0.0049	0.0047	0.0026	0.0023	0.0064	0.0055	0.0054	0.0049	0.0021	0.0039	0.0011	0.0043	0.0060	0.0044	0.0042	0.0054	0.0040	0.0039	0.0044	0.0042	0.0032	0.0046	0.0037	0.0089	0.0041	0.0034	0.0118	0.0048	0.0042	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	3280.27	29	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA,GAT,GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	3280.27	.	AC=3,3,2;AF=0.071,0.071,0.048;AN=42;BaseQRankSum=1.87;DP=1287;ExcessHet=3.5521;FS=78.611;InbreedingCoeff=-0.2353;MLEAC=3,3,2;MLEAF=0.071,0.071,0.048;MQ=58.72;MQRankSum=-1.592e+00;QD=8.99;ReadPosRankSum=-1.672e+00;SOR=8.320	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:21,0,0,18:39:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:693,756,1638,756,1638,1638,0,882,882,828:52384817	13	0	3	0
chr19	52714086	52714086	C	A	exonic	ZNF611	.	nonsynonymous SNV	ZNF611:NM_001161500:exon4:c.G119T:p.C40F	.	.	178	1314	28	2	0	32	0.0120301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.011	B	0.069	B	.	.	1.000	N	1.285	L	4.64	T	-0.928	T	0.007	T	0.098	-1.576	0.014	0.549	0.067	-1.003	11.551	0.075	0.00281738910045	0.0039	0.00119808	0.0035	0.0009	0.0066	0.0003	0.0009	0.0041	0.0066	0.0033	0.0037268	97	26028	rs149629821	0.0040	0.0040	0.0039	0.0041	0.0104	0.0039	0.0039	0.0083	0.0075	0.0014	0.0049	0.0042	0.0003	0.0006	0.0104	0.0043	0.0040	0.0032	0.0026	0.0026	0.0027	0.0025	0.0039	0.0024	0.0023	0.0035	0.0034	0.0010	0	0.0027	0.0052	0.0006	0.0007	0.0034	0.0039	0.0038	0.0023	0.113	0.28772	T	0.201	0.27503	T	0.011	0.15914	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	1.77	0.45869	L	4.64	0.01799	T	-7.15	0.94096	D	0.111	0.11483	-0.9276	0.44487	T	0.007	0.02321	T	9	0.021801442	0.00529	T	0.002817	0.05898	T	0.075	0.21907	.	.	0.0762999501168	0.06990	0.06691334628893894	0.06629	0.0205346747606	0.02017	0.345161855221	0.17207	T	0.011663	0.10375	T	-0.666698	0.00057	T	-0.728937	0.04375	T	0.0239546125926923	0.01139	T	0.0345715	0.00233	T	0.2832653	0.51360	0.30935505	0.56950	0.2832653	0.51360	0.30935505	0.56949	-7.58	0.58171	D	.	.	0.135	0.29311	B	.;.;.;.	.;.;.;.	0.066178	0.04756	1.380	0.51469931782380163	0.04569	0.00225	0.01265	N	AEFBI	0.028400	0.02493	N	-1.69704696893847	0.00852	0.03686995	-1.73446749451502	0.00993	0.04449944	9.26090197134346E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.636168	0.56350	0	.	.	3.03	0.549	0.16403	-1.479000	0.02432	.	.	-1.215000	0.01346	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4493:0.5507:0.0:0.0	11.551	0.49974	900	0.24599	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3075.98	36	chr19	52714086	.	C	A	3075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.960e-01;DP=983;ExcessHet=0.0000;FS=0.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.72;MQRankSum=-1.274e+01;QD=11.03;ReadPosRankSum=0.194;SOR=0.634	GT:AD:DP:GQ:PL	0/1:158,121:279:99:3090,0,4140	20	0	1	0
chr19	52801003	52801003	C	T	exonic	ZNF28	.	nonsynonymous SNV	ZNF28:NM_001369762:exon3:c.G683A:p.G228D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.085	B	0.091	B	.	.	1.000	N	0.81	L	2.46	T	-0.975	T	0.025	T	0.055	0.299	5.619	-2.94	-0.572	-6.363	3.713	0.003	0.000537088295201	0.0005	0.000399361	0.0008	0	0	0	0	0.0009	0	0.0021	0.0006727	104	154602	rs145673349	0.0006	0.0006	0.0005	0.0006	0.0018	0.0005	0.0005	0.0015	0.0014	0.0001	0	3.826e-05	0	0.0003	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0004	0.0005	0.0017	0.0004	0.0003	0.0008	0.0006	4.818e-05	0	0.0001	0	0.0002	0.0004	0	0.0007	0	0.0017	0.091	0.40319	T	0.197	0.34477	T	0.085	0.24868	B	0.091	0.29943	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	2.46	0.18083	T	-0.97	0.31576	N	0.084	0.06059	-0.9752	0.36082	T	0.025	0.10643	T	9	0.007866472	0.00179	T	5.37E-4	0.00196	T	0.003	0.00094	.	.	0.0884992946249	0.08302	0.01421655497026517	0.01378	0.0576419736178	0.06386	0.356519758701	0.18878	T	0.019422	0.15476	T	-0.71765	0.00029	T	-0.810895	0.01645	T	0.0107909258104284	0.00153	T	0.258474	0.08382	T	0.03966939	0.05521	0.06329317	0.12517	0.03966939	0.05521	0.06329317	0.12517	-5.564	0.42462	T	.	.	0.248	0.55243	B	.;.;.	.;.;.	-0.356190	0.02382	0.263	0.6872395974402109	0.08747	0.00572	0.02591	N	AEFBCI	0.020703	0.00845	N	-1.39250366065193	0.02708	0.119946	-1.54911949624795	0.01982	0.09053529	0.00295616972720036	0.09827	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.47	-2.94	0.05245	-2.964000	0.00736	.	.	-1.377000	0.01163	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.463:0.2073:0.3297	3.713	0.07958	976	0.04745	.;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	2015.98	148	chr19	52801003	.	C	T	2015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=2266;ExcessHet=0.0000;FS=4.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=1.11;SOR=0.636	GT:AD:DP:GQ:PL	0/1:85,76:161:99:2030,0,2233	20	0	1	0
chr19	53576886	53576886	A	T	exonic	ZNF331	.	nonsynonymous SNV	ZNF331:NM_001253801:exon5:c.A326T:p.K109I	.	.	435	1059	23	4	1	32	0.0144253	.	.	705236	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.045	B	0.025	B	0.073	N	0.993	N	1.76	L	3.21	T	-1.047	T	0.019	T	0.473	2.708	15.02	2.64	1.466	.	9.054	0.079	.	0.0053	0.00179712	0.0077	0.0013	0.0027	0	0.0082	0.0117	0.0066	0.0031	0.0074837	1157	154602	rs112855712	0.0067	0.0067	0.0068	0.0067	0.0074	0.0066	0.0066	0.0073	0.0072	0.0008	0.0038	0.0062	5.038e-05	0.0095	0.0057	0.0074	0.0062	0.0037	0.0055	0.0055	0.0058	0.0052	0.0083	0.0052	0.0051	0.0077	0.0075	0.0013	0	0.0059	0.0069	0	0.0065	0.0034	0.0083	0.0066	0.0039	0.023	0.72154	D	0.07	0.59159	T	0.045	0.21781	B	0.025	0.20508	B	0.073077	0.21369	N	0.240961	0.992882	0.41771	D	1.76	0.45711	L	3.11	0.09450	T	-4.05	0.79482	D	0.272	0.38541	-1.0468	0.15303	T	0.019	0.08033	T	10	0.007546127	0.00171	T	.	.	.	0.079	0.23065	.	.	0.46763814438	0.46390	0.27162076510049704	0.27075	1.421377758	0.85618	0.342191696167	0.16767	T	0.274482	0.64698	T	-0.470923	0.00839	T	-0.438837	0.28939	T	0.0143751333753561	0.00288	T	0.263374	0.12411	T	0.23822464	0.46697	0.16513857	0.38219	0.23822464	0.46697	0.16513857	0.38219	-5.146	0.38388	T	.	.	0.453	0.62351	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.426013	0.18436	13.73	0.99465340397474589	0.66049	0.05243	0.11077	N	AEFDBHCI	0.024695	0.01571	N	-0.779706392904022	0.13839	0.6847546	-0.859162418193244	0.13067	0.6758589	5.33915717425274E-5	0.04171	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.64	2.64	0.30504	0.989000	0.29229	.	.	0.691000	0.84096	0.002000	0.15269	0.000000	0.08366	0.032000	0.13371	1.0:0.0:0.0:0.0	9.054	0.35558	994	0.00715	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2089.98	34	chr19	53576886	.	A	T	2089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.686e+00;DP=1222;ExcessHet=0.0000;FS=2.322;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.27;ReadPosRankSum=-3.070e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,55:121:99:0|1:53576886_A_T:2104,0,2577:53576886	20	0	1	0
chr19	54633108	54633108	T	C	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.T1051C:p.W351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.005	B	0.000	N	1.000	N	0.64	N	4.11	T	-0.937	T	0.006	T	0.074	-0.437	1.968	-4.16	-1.178	-4.299	2.666	0.016	0.000983764574232	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs765206177	1.262e-05	1.321e-05	1.117e-05	1.408e-05	0.0002	7.89e-06	6.51e-06	0.0001	8.812e-05	3.147e-05	0	0	0	0	0	0	3.399e-05	0.0002	2.098e-05	2.088e-05	2.735e-05	1.431e-05	0.0007	5.58e-06	2.55e-06	0.0002	9.61e-05	0	0	0	0	0	0	0	0	0	0.0007	0.426	0.09746	T	0.473	0.12281	T	0.0	0.02946	B	0.002	0.06944	B	0.000057	0.00387	N	14.826600	1	0.08975	N	.	.	.	4.11	0.02916	T	-1.47	0.45042	N	0.058	0.03175	-0.9373	0.43041	T	0.006	0.02168	T	10	0.032902986	0.01452	T	9.84E-4	0.01026	T	0.016	0.02506	0.42	0.46200	0.355658859761	0.35178	0.06504777047916012	0.06443	0.0951957454739	0.10748	0.260372936726	0.04935	T	0.003953	0.03423	T	-0.602758	0.00140	T	-0.799049	0.01926	T	0.0297089204965355	0.01945	T	0.0123321	0.00111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48827	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.464652	0.01982	0.173	0.27383360219759167	0.01357	0.00158	0.00946	N	AEFDBHCI	0.036166	0.04774	N	-2.07763132330582	0.00143	0.006134361	-2.16231796484525	0.00136	0.005972342	0.998419139002024	0.36924	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	-4.16	0.03606	-3.674000	0.00445	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3566:0.2413:0.0:0.4021	2.666	0.04739	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	75915.23	337	chr19	54633108	.	T	G,C	75915.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=1.38;DP=7609;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.07;MQRankSum=-1.416e+01;QD=10.13;ReadPosRankSum=3.92;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:276,131,0:407:99:0|1:54633108_T_G:4670,0,11114,5500,11508,17008:54633108	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	0/1:276,66:342:99:838,0,7381	4	0	16	1
chr19	54742019	54742019	C	T	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.181	B	0.069	B	.	.	1.000	N	2.52	M	5.76	T	-1.016	T	0.017	T	0.347	0.259	5.400	0.507	0.253	1.801	5.886	0.076	0.00102173653182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.394e-07	7.092e-07	0	1.485e-06	2.396e-05	0	0	.	.	0	2.396e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.181	0.29111	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.56	0.74772	M	3.95	0.03382	T	-6.54	0.91786	D	0.223	0.25006	-1.0164	0.24884	T	0.017	0.06807	T	9	0.12389034	0.23525	T	0.001022	0.01120	T	0.076	0.22200	0.37	0.38013	0.335164054921	0.33125	0.19209035572317168	0.19127	1.791941562	0.91524	.	.	.	0.020233	0.15966	T	-0.175002	0.24481	T	-0.489154	0.23479	T	0.20912588440861	0.20907	T	.	.	.	0.17275815	0.37985	0.1681736	0.38757	0.17275815	0.37985	0.1681736	0.38756	-8.822	0.66544	D	.	.	0.125	0.26514	B	.	.	1.590162	0.20337	14.70	0.57320471306848364	0.05743	0.01560	0.05104	N	AEFI	0.030433	0.03063	N	-1.06537834965913	0.07289	0.338164	-1.21954413589658	0.05596	0.2670848	1.74798417143001E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	0.507	0.16168	1.859000	0.39058	.	.	0.303000	0.18983	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.6648:0.3352:0.0	5.886	0.18127	964	0.07719	Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	38391.65	39	chr19	54742019	.	C	G,T	38391.65	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-4.248e+00;DP=5023;ExcessHet=10.5502;FS=2.011;InbreedingCoeff=-0.4135;MLEAC=15,1;MLEAF=0.357,0.024;MQ=49.81;MQRankSum=0.016;QD=8.38;ReadPosRankSum=0.547;SOR=0.509	GT:AD:DP:GQ:PL	0/1:199,89,0:288:99:1862,0,5886,2459,6154,8612	6	0	14	0
chr19	54758607	54758607	G	C	splicing	LOC112267881	NM_001368251:exon3:c.71-1G>C	.	.	.	.	431	1048	34	9	0	52	0.0242086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.000401	62	154602	rs200443054	0.0058	0.0060	0.0052	0.0065	0.0206	0.0057	0.0057	0.0198	0.0194	0.0006	0.0021	0.0011	0	0.0009	0.0173	0.0055	0.0070	0.0206	0.0036	0.0036	0.0035	0.0037	0.0187	0.0033	0.0032	0.0155	0.0144	0.0007	0	0.0029	0.0009	0.0006	0.0005	0.0174	0.0051	0.0069	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4370.11	36	chr19	54758607	.	G	C	4370.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.160e-01;DP=2026;ExcessHet=0.1072;FS=5.707;InbreedingCoeff=-0.0501;MLEAC=2;MLEAF=0.048;MQ=38.04;MQRankSum=5.86;QD=18.44;ReadPosRankSum=-6.100e-02;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,79:94:99:1|0:54758604_C_T:2621,0,372:54758604	19	0	2	0
chr19	54758623	54758623	-	GGGGG	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	33.68	142	chr19	54758623	.	C	CGGGGG	33.68	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.295e+00;DP=2275;ExcessHet=0.0000;FS=60.621;InbreedingCoeff=-0.0505;MLEAC=1;MLEAF=0.026;MQ=42.69;MQRankSum=-8.300e-02;QD=0.34;ReadPosRankSum=1.26;SOR=7.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,7:106:47:.:.:47,0,3751	18	0	1	2
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1402.14	99	chr19	55358524	.	C	*,T	1402.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2198;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.80;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,69,0:69:99:.:.:3008,212,0,3008,212,3008	0	18	2	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1530.14	99	chr19	55358535	.	T	*,C	1530.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2199;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.88;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,69,0:69:99:.:.:3008,212,0,3008,212,3008	0	18	2	0
chr19	55378033	55378033	A	G	exonic	TMEM190	.	nonsynonymous SNV	TMEM190:NM_139172:exon5:c.A364G:p.M122V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.002	B	0.737	N	1.000	N	0	N	.	.	-1.030	T	0.037	T	0.104	0.595	7.210	-1.72	-0.230	-1.853	2.774	0.023	0.00344449210613	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319059304	3.423e-06	3.42e-06	2.724e-06	4.128e-06	0.0009	1e-06	7.3e-07	0.0003	0.0002	0	0	0	0	0	0.0009	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.059	0.45961	T	0.002	0.09854	B	0.002	0.06944	B	0.736779	0.09809	N	0.817361	1	0.08975	N	0	0.06538	N	.	.	.	-1.17	0.29933	N	0.096	0.07673	-1.0296	0.20583	T	0.037	0.16073	T	9	0.034504443	0.01661	T	0.003444	0.07755	T	0.023	0.04649	0.161	0.06507	0.0920862733494	0.08535	0.14879602737604533	0.14801	0.441629838228	0.44142	0.276694118977	0.07036	T	0.047748	0.27815	T	-0.408721	0.02027	T	-0.655748	0.08556	T	0.0235258825731104	0.01086	T	0.277372	0.04781	T	0.13809955	0.31952	0.103022754	0.24708	0.13809955	0.31952	0.103022754	0.24707	-2.105	0.03605	T	.	.	0.062	0.01252	B	.	.	-0.148480	0.03363	0.598	0.37640805533347094	0.02492	0.01759	0.05532	N	AEFDGBCI	0.024227	0.01466	N	-1.82218676276125	0.00493	0.02122421	-1.84828735829952	0.00617	0.02739902	0.999988788207661	0.51787	0.652421	0.48094	0	0.547309	0.14657	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.02	-1.72	0.07671	-1.597000	0.02192	-2.658000	0.03498	-4.666000	0.00023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2056:0.4214:0.0:0.373	2.774	0.05015	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1105.98	37	chr19	55378033	.	A	G	1105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.545e+00;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=1.02;SOR=0.743	GT:AD:DP:GQ:PL	0/1:56,49:105:99:1120,0,1446	20	0	1	0
chr19	55678602	55678602	G	A	exonic	EPN1	.	nonsynonymous SNV	EPN1:NM_001130071:exon3:c.G308A:p.C103Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.681	P	0.089	B	.	.	1.000	N	.	.	2.47	T	-1.038	T	0.026	T	0.085	2.547	14.48	1.5	0.658	0.157	8.603	0.074	0.0396148521541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.961e-07	4.104e-06	0	1.403e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.677e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.681	0.41422	P	0.089	0.29769	B	.	.	.	.	1	0.21028	N	.	.	.	2.47	0.14783	T	0.0	0.07008	N	0.266	0.30118	-1.0383	0.17832	T	0.026	0.11043	T	8	0.13506365	0.25702	T	0.039615	0.58911	D	0.074	0.21613	0.242	0.17524	0.252162846088	0.24830	0.4719233532865524	0.47111	1.46174912538	0.86360	0.445617675781	0.31346	T	.	.	.	-0.301337	0.08534	T	-0.670626	0.07569	T	0.268650916351005	0.23689	T	0.424358	0.11346	T	.	.	.	.	.	.	.	.	-5.622	0.42993	T	.	.	0.167	0.36850	B	.	.	1.253358	0.16501	12.58	0.94829923703279739	0.25609	0.05579	0.11480	N	AEFGBHCI	0.150124	0.27436	N	-0.528129356396981	0.21175	1.121815	-0.650444670833936	0.18206	0.9715283	0.99999978250242	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.723133	0.82415	0	0.735409	0.98432	0	.	.	2.56	1.5	0.22029	-0.094000	0.11060	1.238000	0.25088	0.613000	0.49114	0.000000	0.06391	0.022000	0.20871	0.497000	0.28949	0.0:0.3106:0.6894:0.0	8.603	0.32918	900	0.24599	.	.	.	.	.	.	Uncertain significance	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	1910.98	33	chr19	55678602	.	G	A	1910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.934e+00;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=1.19;SOR=0.714	GT:AD:DP:GQ:PL	0/1:75,76:151:99:1925,0,1991	20	0	1	0
chr19	55789259	55789259	C	T	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001297743:exon9:c.G2357A:p.R786K	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.024	B	0.013	B	.	.	1.000	N	-1.06	N	1.05	T	-1.022	T	0.024	T	0.032	-1.467	0.018	-5.71	-1.603	-1.051	5.500	0.030	0.00305001854726	.	.	5.84e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs762908354	3.148e-05	3.147e-05	1.498e-05	4.815e-05	0.0005	2.413e-05	2.158e-05	0.0004	0.0004	0	0	0	0	0	0	0	1.656e-05	0.0005	6.569e-06	6.566e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.365	0.16717	T	0.014	0.19075	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	-0.37	0.03087	N	1.05	0.39990	T	.	.	.	0.09	0.06854	-1.0222	0.22998	T	0.024	0.10239	T	9	0.039215118	0.02395	T	0.00305	0.06577	T	.	.	0.56	0.67958	0.119812018005	0.11559	0.1020061422669596	0.10131	.	.	0.228957727551	0.01892	T	0.003106	0.02504	T	-0.61274	0.00122	T	-0.807416	0.01724	T	0.024019916793824	0.01148	T	0.331767	0.06954	T	0.03229003	0.03227	0.04602542	0.06324	0.03229003	0.03227	0.04602542	0.06324	-2.739	0.08018	T	.	.	0.112	0.21803	B	.;.;.	.;.;.	-1.013496	0.00752	0.023	0.36984141538716858	0.02410	0.00052	0.00397	N	AEFBI	0.021658	0.00989	N	-1.87946621574834	0.00378	0.01625798	-1.91850954692709	0.00450	0.01990775	0.00222482917535886	0.09245	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.85	-5.71	0.02218	-0.973000	0.03908	-12.751000	0.00503	-0.916000	0.02226	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2605:0.46:0.2795	5.500	0.16114	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	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	2537.98	33	chr19	55789259	.	C	T	2537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.636e+00;DP=966;ExcessHet=0.0000;FS=8.840;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-1.048e+00;SOR=0.790	GT:AD:DP:GQ:PL	0/1:106,106:212:99:2552,0,2762	20	0	1	0
chr19	55932076	55932076	C	A	exonic	NLRP13	.	nonsynonymous SNV	NLRP13:NM_001321057:exon1:c.G236T:p.G79V	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.494	P	0.17	B	.	.	1.000	N	0.345	N	0.79	T	-1.054	T	0.055	T	0.185	1.009	9.122	-1.62	-0.338	-1.827	2.055	0.025	0.00388345138052	.	.	0.0002	0	0	0.0006	0	5.998e-05	0	0.0008	0.0001423	22	154602	rs763183429	0.0001	0.0001	0.0001	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	0	0	3.826e-05	0.0012	0	0	2.068e-05	0.0003	0.0014	6.568e-05	6.562e-05	6.425e-05	6.717e-05	0.0010	3.515e-05	2.615e-05	0.0004	0.0003	0	0	0	0	0.0008	0	0	1.47e-05	0	0.0010	0.089	0.32141	T	0.159	0.39190	T	0.494	0.37037	P	0.17	0.35299	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	0.79	0.49068	T	-1.2	0.30555	N	0.241	0.27197	-1.0538	0.13359	T	0.055	0.23262	T	9	0.045886666	0.03712	T	0.003883	0.09117	T	0.025	0.05312	.	.	0.422524665647	0.41870	0.04786445269929214	0.04729	0.0649752695201	0.07257	0.296583533287	0.09892	T	0.003937	0.03343	T	-0.547231	0.00303	T	-0.62359	0.10906	T	0.0403642070663377	0.03756	T	0.424958	0.11391	T	0.035819564	0.04288	0.042790435	0.05176	0.035819564	0.04288	0.042790435	0.05175	-4.579	0.31907	T	.	.	0.141	0.32275	B	.;.	.;.	-0.027328	0.04097	0.964	0.97098106973445952	0.32353	0.00367	0.01872	N	AEFBI	0.032899	0.03801	N	-1.05794897177841	0.07432	0.3452459	-1.21220008796217	0.05713	0.2729874	2.42182165804857E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.97	-1.62	0.07926	-1.187000	0.03176	-2.357000	0.03856	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.257:0.4052:0.0:0.3377	2.055	0.03362	934	0.15400	DAPIN domain|DAPIN domain|DAPIN domain;DAPIN domain|DAPIN domain|DAPIN domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1181.98	39	chr19	55932076	.	C	A	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.850e-01;DP=820;ExcessHet=0.0000;FS=1.527;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=1.26;SOR=0.550	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1196,0,1627	20	0	1	0
chr19	56208826	56208826	G	A	exonic	ZSCAN5C	.	nonsynonymous SNV	ZSCAN5C:NM_001358413:exon4:c.G1117A:p.V373I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	2.25	T	-1.001	T	0.013	T	0.079	-2.880	0.001	-2.76	-2.342	-5.873	4.329	0.010	0.000226132683067	.	.	4.463e-05	0	0	0	0	6.471e-05	0	6.355e-05	4.53e-05	7	154602	rs200083612	6.757e-05	6.712e-05	7.252e-05	6.262e-05	7.713e-05	5.644e-05	5.242e-05	6.337e-05	5.823e-05	3.138e-05	2.254e-05	0.0001	0	0	0	7.713e-05	6.832e-05	4.705e-05	5.274e-05	5.253e-05	3.869e-05	6.741e-05	7.356e-05	2.564e-05	1.835e-05	2.848e-05	1.859e-05	2.433e-05	0	6.549e-05	0	0	0	0	7.356e-05	0.0005	0	1.0	0.00964	T	0.973	0.02465	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.25	0.17761	T	0.61	0.02480	N	0.031	0.01068	-1.0011	0.29602	T	0.013	0.04938	T	6	0.046458095	0.03839	T	2.26E-4	0.00006	T	0.010	0.01040	0.247	0.18293	0.0401082797425	0.02173	0.02805130801003512	0.02755	0.00738871656898	0.00648	.	.	.	5.97E-4	0.00245	T	-0.554251	0.00275	T	-0.818585	0.01481	T	0.0311967388504689	0.02177	T	0.473453	0.14099	T	0.015106304	0.00122	0.024336869	0.00452	0.015106304	0.00122	0.024336869	0.00452	-3.09	0.11182	T	.	.	0.183	0.40229	B	.;.	.;.	-1.249987	0.00483	0.010	0.1820342062255913	0.00562	0.00029	0.00276	N	AEFDGBI	0.020513	0.00818	N	-1.65724445749086	0.01005	0.04356123	-1.89122906459377	0.00510	0.02258063	0.190015975158835	0.17987	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.38	-2.76	0.05547	-4.542000	0.00251	.	.	-1.792000	0.00636	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2589:0.4055:0.3356:0.0	4.329	0.10493	934	0.15400	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	4577.98	38	chr19	56208826	.	G	A	4577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.05;DP=1274;ExcessHet=0.0000;FS=1.815;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=2.39;SOR=0.596	GT:AD:DP:GQ:PL	0/1:154,172:326:99:4592,0,3676	20	0	1	0
chr19	56423401	56423401	C	T	exonic	ZNF583	.	nonsynonymous SNV	ZNF583:NM_001159860:exon5:c.C743T:p.T248M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.885	P	0.008	N	1.000	N	1.87	L	1.26	T	-1.001	T	0.131	T	0.143	2.320	13.71	3.38	1.214	0.197	3.419	0.078	0.0132501974951	.	.	8.305e-06	0	0	0	0	1.511e-05	0	0	1.94e-05	3	154602	rs200724967	4.721e-05	4.72e-05	5.037e-05	4.401e-05	5.576e-05	3.794e-05	3.476e-05	4.439e-05	4.029e-05	2.987e-05	0	0	0	0	0	5.576e-05	8.281e-05	1.159e-05	4.603e-05	4.598e-05	5.142e-05	4.039e-05	8.821e-05	2.111e-05	1.528e-05	3.762e-05	2.575e-05	0	0	6.551e-05	0	0	0	0	8.821e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.885	0.62825	P	0.008176	0.30981	N	0.151456	1	0.08975	N	1.57	0.39626	L	1.26	0.36330	T	-1.94	0.45042	N	0.084	0.06059	-1.0010	0.29631	T	0.131	0.44088	T	9	0.15928221	0.29931	T	0.01325	0.32506	T	0.078	0.22779	.	.	0.619248587047	0.61616	0.15939891142175933	0.15860	0.591036329476	0.54550	0.316146790981	0.12838	T	0.054407	0.29715	T	-0.326162	0.06405	T	-0.54992	0.17333	T	0.232529327273369	0.22071	T	0.247375	0.03654	T	0.10652378	0.25188	0.14677249	0.34758	0.10652378	0.25188	0.14677249	0.34758	-8.621	0.65228	D	.	.	0.128	0.30608	B	.;.	.;.	3.236576	0.44165	21.9	0.99753431525988401	0.84460	0.00006	0.00120	N	AEFDGBHCI	0.100102	0.20136	N	-0.0316825273823774	0.40423	2.400412	-0.181581048656744	0.32213	1.830519	0.0260131815130392	0.13685	0.562547	0.31514	0	0.588015	0.36545	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.43	3.38	0.37806	0.008000	0.13095	.	.	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.189000	0.21571	0.1791:0.5546:0.1731:0.0932	3.419	0.06958	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1023.98	34	chr19	56423401	.	C	T	1023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.847;DP=845;ExcessHet=0.0000;FS=5.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=-5.210e-01;SOR=0.342	GT:AD:DP:GQ:PL	0/1:57,42:99:99:1038,0,1486	20	0	1	0
chr19	57254468	57254468	G	A	exonic	ZNF805	.	nonsynonymous SNV	ZNF805:NM_001145078:exon3:c.G1250A:p.R417H	.	.	.	.	.	.	.	.	.	.	.	2220126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.998	D	0.913	D	0.751	N	1.000	N	1.07	L	2.25	T	-1.044	T	0.067	T	0.411	2.915	15.71	4.62	2.552	0.006	8.242	0.155	0.0018099910988	0.0002	.	3.297e-05	0	0	0	0	5.998e-05	0	0	2.59e-05	4	154602	rs372060986	7.593e-05	7.593e-05	8.984e-05	6.188e-05	9.083e-05	6.423e-05	6.004e-05	7.597e-05	7.086e-05	5.974e-05	0	0	2.519e-05	1.872e-05	0	9.083e-05	4.967e-05	3.478e-05	5.914e-05	5.91e-05	5.138e-05	6.727e-05	0.0001	3.077e-05	2.21e-05	4.765e-05	3.339e-05	4.826e-05	0	0	0	0	0	0	0.0001	0	0	0.153	0.24372	T	0.234	0.24840	T	0.998	0.73220	D	0.913	0.64886	D	0.750758	0.06483	N	1.142240	0.999683	0.20694	N	0.105	0.08473	N	2.25	0.17761	T	-1.99	0.45949	N	0.176	0.24758	-1.0436	0.16236	T	0.067	0.27537	T	10	0.13781399	0.26214	T	0.00181	0.03115	T	0.155	0.40530	.	.	0.187035705434	0.18338	0.05148726759072695	0.05090	0.359438089845	0.37635	0.620201945305	0.55757	T	0.002764	0.02156	T	-0.354424	0.04455	T	-0.52118	0.20175	T	0.223428055644035	0.21634	T	0.0247975	0.00150	T	0.08670677	0.20163	0.07493356	0.16445	0.08670677	0.20162	0.07493356	0.16444	-4.541	0.34392	T	.	.	0.511	0.70872	A	.;.	.;.	3.420720	0.47492	22.5	0.99864476283632941	0.94276	0.18428	0.20256	N	AEFBCI	0.031971	0.03522	N	0.171016307606661	0.49810	3.177448	0.131596062715107	0.46174	2.86775	0.00191906458950274	0.09002	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.62	4.62	0.56946	0.036000	0.13706	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.0:0.1688:0.6569:0.1743	8.242	0.30827	940	0.13648	.;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	3323.98	39	chr19	57254468	.	G	A	3323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.900;DP=973;ExcessHet=0.0000;FS=0.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.26;ReadPosRankSum=0.833;SOR=0.782	GT:AD:DP:GQ:PL	0/1:63,119:182:99:3338,0,1423	20	0	1	0
chr19	57456397	57456397	A	C	exonic	VN1R1	.	nonsynonymous SNV	VN1R1:NM_020633:exon1:c.T90G:p.N30K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.015	B	0.005	B	.	.	1.000	N	0	N	1.2	T	-0.996	T	0.027	T	0.061	-1.577	0.014	-5.76	-1.232	0.302	2.246	0.030	0.00305673777914	0.0002	0.000199681	5.789e-05	0	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs202011839	8.075e-05	8.072e-05	9.258e-05	6.88e-05	9.717e-05	6.871e-05	6.423e-05	8.216e-05	7.636e-05	2.988e-05	2.237e-05	0	0	0	0	9.717e-05	0.0001	0	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0001	2.107e-05	1.526e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	1.0	0.00964	T	1.0	0.01155	T	0.015	0.17086	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.2	0.37405	T	-0.09	0.08340	N	0.057	0.02861	-0.9958	0.31082	T	0.027	0.11441	T	9	0.031712174	0.01310	T	0.003057	0.06606	T	0.030	0.07022	0.261	0.20473	0.115124310173	0.11017	0.05474918498198184	0.05415	0.0941732856784	0.10632	0.559492468834	0.47196	T	0.002183	0.01585	T	-0.515683	0.00466	T	-0.741851	0.03813	T	0.0258605517278639	0.01387	T	0.312169	0.06100	T	0.039108053	0.05337	0.036647364	0.03155	0.039108053	0.05336	0.036647364	0.03154	-2.774	0.07946	T	.	.	0.093	0.14108	B	.	.	0.442321	0.08122	4.855	0.094203104805069479	0.00096	0.00971	0.03712	N	AEFBI	.	.	.	-1.69263061456464	0.00868	0.03756862	-1.75284994996098	0.00922	0.04127945	7.8935581188912E-4	0.07810	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.55	-5.76	0.02183	-0.434000	0.07009	.	.	-1.270000	0.01281	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1572:0.1333:0.1394:0.5701	2.246	0.03785	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	996.98	37	chr19	57456397	.	A	C	996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-01;DP=821;ExcessHet=0.0000;FS=4.112;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=0.642;SOR=0.633	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1011,0,1040	20	0	1	0
chr19	57926277	57926278	GT	-	exonic	ZNF418	.	stopgain	ZNF418:NM_001317030:exon2:c.1648_1649del:p.T550*	.	.	427	1074	15	0	6	21	0.00693481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.0011	0.0101	0	0.0082	0.0130	0.0044	0.0019	0.0007684	20	26028	rs750922476	0.0017	0.0076	0.0017	0.0018	0.0040	0.0017	0.0017	0.0028	0.0023	0.0004	0.0008	0.0059	0	0.0028	0.0040	0.0018	0.0023	0.0001	0.0061	0.0089	0.0064	0.0057	0.0095	0.0057	0.0056	0.0089	0.0086	0.0011	0.0099	0.0052	0.0208	0	0.0048	0.0034	0.0095	0.0076	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	876.94	35	chr19	57926276	.	AGT	A	876.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.70;MQRankSum=-3.112e+00;QD=6.96;ReadPosRankSum=-4.226e+00;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,30:126:99:0|1:57926261_T_A:891,0,3914:57926261	20	0	1	0
chr19	57926279	57926279	-	GG	exonic	ZNF418	.	frameshift insertion	ZNF418:NM_001317030:exon2:c.1646_1647insCC:p.T550Lfs*53	.	.	428	1073	15	0	6	21	0.00694123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0011	0.0095	0	0.0073	0.0123	0.0044	0.0018	0.0007684	20	26028	rs756712461	0.0016	0.0063	0.0015	0.0016	0.0040	0.0015	0.0015	0.0028	0.0023	0.0003	0.0008	0.0056	0	0.0025	0.0040	0.0016	0.0020	6.986e-05	0.0061	0.0089	0.0064	0.0057	0.0094	0.0057	0.0056	0.0088	0.0086	0.0011	0.0090	0.0052	0.0213	0	0.0048	0.0036	0.0094	0.0078	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	794.94	35	chr19	57926279	.	A	AGG	794.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.21;DP=807;ExcessHet=0.0000;FS=1.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.69;MQRankSum=-3.309e+00;QD=6.62;ReadPosRankSum=-3.782e+00;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,26:120:99:0|1:57926261_T_A:809,0,3869:57926261	20	0	1	0
chr19	57926286	57926286	A	G	exonic	ZNF418	.	nonsynonymous SNV	ZNF418:NM_001317030:exon2:c.T1640C:p.F547S	.	.	429	1077	15	0	1	16	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.006	B	0.001	B	.	.	1.000	N	-2.3	N	3.21	T	-0.970	T	0.004	T	0.307	-1.459	0.019	-4.8	-1.675	-1.547	7.921	0.037	0.00139176472516	.	.	0.0011	0.0002	0.0009	0	0.0002	0.0018	0.0011	0.0001	0.0001153	3	26028	rs754856969	0.0007	0.0022	0.0007	0.0007	0.0019	0.0007	0.0006	0.0011	0.0008	0.0002	0.0005	0.0037	0	0.0012	0.0019	0.0007	0.0011	0	0.0043	0.0078	0.0044	0.0041	0.0065	0.0040	0.0039	0.0060	0.0058	0.0007	0.0046	0.0040	0.0167	0	0.0034	0	0.0065	0.0058	0.0009	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.95	0.00216	N	3.21	0.07125	T	2.33	0.00281	N	0.135	0.13626	-0.9701	0.37179	T	0.004	0.01192	T	9	0.007198304	0.00164	T	0.001392	0.02037	T	0.037	0.09474	.	.	0.0551355673512	0.04727	0.01625044036325455	0.01581	0.0377257243875	0.04003	0.367868036032	0.20526	T	0.001518	0.00960	T	-0.317262	0.07125	T	-0.693502	0.06189	T	0.0285097912318382	0.01763	T	0.546745	0.18722	T	0.02994329	0.02572	0.07247944	0.15643	0.02994329	0.02571	0.07247944	0.15643	0.193	0.00287	T	.	.	0.170	0.37858	B	.;.;.;.;.	.;.;.;.;.	-0.728011	0.01257	0.065	0.19729777939393434	0.00679	0.00146	0.00887	N	AEFBI	0.037813	0.05257	N	-1.85953321941803	0.00415	0.01785339	-1.83605549207893	0.00650	0.02892496	0.00254255846094499	0.09519	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	2.4	-4.8	0.02957	-2.888000	0.00778	.	.	-0.886000	0.02417	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1614:0.2539:0.5847:0.0	7.921	0.29006	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	602.98	35	chr19	57926286	.	A	G	602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=796;ExcessHet=0.0000;FS=0.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.66;MQRankSum=-3.565e+00;QD=5.53;ReadPosRankSum=-3.925e+00;SOR=0.882	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,21:109:99:0|1:57926261_T_A:617,0,3632:57926261	20	0	1	0
chr19	57926289	57926297	GTTTCAGCA	-	exonic	ZNF418	.	nonframeshift deletion	ZNF418:NM_001317030:exon2:c.1629_1637del:p.A544_T546del	.	.	427	1080	14	0	1	15	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0005	0	0	0.0001153	3	26028	rs768837080	0.0005	0.0021	0.0005	0.0005	0.0012	0.0005	0.0005	0.0006	0.0004	0.0001	0.0003	0.0026	0	0.0010	0.0012	0.0005	0.0009	0	0.0035	0.0074	0.0035	0.0035	0.0053	0.0032	0.0031	0.0048	0.0046	0.0006	0.0034	0.0033	0.0136	0	0.0029	0	0.0053	0.0043	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	383.94	35	chr19	57926288	.	GGTTTCAGCA	G	383.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.36;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.65;MQRankSum=-4.154e+00;QD=3.59;ReadPosRankSum=-4.506e+00;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,16:107:99:0|1:57926261_T_A:398,0,3773:57926261	20	0	1	0
chr19	57926301	57926301	G	A	exonic	ZNF418	.	nonsynonymous SNV	ZNF418:NM_001317030:exon2:c.C1625T:p.S542F	.	.	430	1079	12	0	1	13	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.99	D	0.787	P	.	.	1.000	N	1.7	L	2.15	T	-1.065	T	0.073	T	0.243	0.635	7.412	1.29	0.316	0.057	5.481	0.016	0.00390540273441	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001153	3	26028	rs771847469	0.0004	0.0020	0.0004	0.0004	0.0009	0.0004	0.0004	0.0004	0.0004	0.0001	0.0002	0.0021	0	0.0008	0.0009	0.0004	0.0008	1.161e-05	0.0031	0.0071	0.0031	0.0031	0.0047	0.0028	0.0028	0.0042	0.0041	0.0005	0.0034	0.0031	0.0130	0	0.0026	0	0.0047	0.0043	0.0006	0.283	0.15354	T	0.147	0.47828	T	0.99	0.63424	D	0.787	0.57594	P	.	.	.	.	1	0.08975	N	2.325	0.66631	M	2.15	0.19311	T	-2.78	0.58896	D	0.344	0.39861	-1.0651	0.10526	T	0.073	0.29675	T	9	0.019309342	0.00429	T	0.003905	0.09180	T	0.016	0.02506	.	.	0.276898752692	0.27294	0.024252981284365444	0.02376	0.0289499722451	0.02984	0.366685032845	0.20354	T	0.021685	0.16847	T	-0.228408	0.16858	T	-0.565869	0.15830	T	0.615540385246277	0.37024	D	0.49655	0.18153	T	0.10927151	0.25835	0.1288796	0.30998	0.10927151	0.25835	0.1288796	0.30997	-6.036	0.46580	T	.	.	0.255	0.50609	B	.;.;.;.;.	.;.;.;.;.	2.140614	0.27259	17.40	0.79716995808412361	0.12868	0.08643	0.14543	N	AEFBI	0.106608	0.21265	N	-0.329544032596889	0.28031	1.542745	-0.565126425660344	0.20405	1.099201	1.72760614122142E-5	0.02871	0.460665	0.09802	0	0.588066	0.40923	0	0.575934	0.27490	0	0.528226	0.09195	0	.	.	2.4	1.29	0.20717	-0.106000	0.10860	.	.	0.505000	0.23025	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.0:0.3851:0.4105:0.2044	5.481	0.16017	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	350.98	35	chr19	57926301	.	G	A	350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.42;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.64;MQRankSum=-4.220e+00;QD=3.41;ReadPosRankSum=-4.294e+00;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,15:103:99:0|1:57926261_T_A:365,0,3650:57926261	20	0	1	0
chr19	57926315	57926315	G	T	exonic	ZNF418	.	nonsynonymous SNV	ZNF418:NM_001317030:exon2:c.C1611A:p.S537R	.	.	431	1076	6	0	9	15	0.00278035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.911	P	0.395	B	.	.	1.000	N	1.21	L	3.2	T	-1.020	T	0.016	T	0.161	1.087	9.437	-2.83	-0.333	-6.010	1.592	0.063	0.00412266712195	.	.	5.788e-05	0	0	0	0	0.0001	0	0	9.7e-05	15	154602	rs7245442	2.681e-05	0.0014	3.283e-05	2.073e-05	5.979e-05	2.007e-05	1.763e-05	1.635e-05	1.389e-05	5.979e-05	2.251e-05	0.0002	0	5.655e-05	0	2.35e-05	3.338e-05	0	0.0007	0.0039	0.0007	0.0007	0.0009	0.0006	0.0005	0.0007	0.0007	0.0001	0.0023	0.0009	0.0033	0	0.0008	0	0.0009	0.0010	0	0.25	0.18122	T	0.135	0.34716	T	0.911	0.50336	P	0.395	0.44317	B	.	.	.	.	1	0.08975	N	1.46	0.36832	L	3.2	0.07236	T	-2.83	0.59710	D	0.256	0.30914	-1.0202	0.23649	T	0.016	0.06425	T	9	0.036218226	0.01909	T	0.004123	0.09869	T	0.063	0.18251	0.31	0.28289	0.18995819373	0.18626	0.026930070384032563	0.02643	0.22658052965	0.25209	0.293004572392	0.09361	T	0.009437	0.08594	T	-0.561241	0.00249	T	-0.675211	0.07279	T	0.341226549971076	0.26672	T	0.111589	0.00840	T	0.14615527	0.33471	0.13731952	0.32827	0.14615527	0.33471	0.13731952	0.32826	-4.377	0.29244	T	.	.	0.257	0.49177	B	.;.;.;.;.	.;.;.;.;.	0.033730	0.04519	1.219	0.97486411957214891	0.34219	0.00920	0.03580	N	AEFBI	0.060836	0.11589	N	-1.32887122342335	0.03349	0.1494479	-1.54508096714278	0.02010	0.09184178	2.06913856637791E-4	0.05948	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	2.08	-2.83	0.05425	-4.687000	0.00229	.	.	-2.603000	0.00234	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2442:0.1737:0.4107:0.1713	1.592	0.02495	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	143.98	35	chr19	57926315	.	G	T	143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.77;DP=784;ExcessHet=0.0000;FS=2.807;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.62;MQRankSum=-5.142e+00;QD=1.48;ReadPosRankSum=-4.379e+00;SOR=1.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,10:97:99:0|1:57926261_T_A:158,0,3588:57926261	20	0	1	0
chr19	57979081	57979081	C	A	exonic	ZNF606	.	nonsynonymous SNV	ZNF606:NM_001348023:exon6:c.G1329T:p.M443I	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.032	B	0.02	B	0.000	D	1.000	D	-1.27	N	5.48	T	-0.969	T	0.001	T	0.638	-1.502	0.017	3.6	2.597	0.148	13.125	0.267	0.00220735139963	.	.	.	.	.	.	.	.	.	.	.	.	.	rs758537967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.032	0.20242	B	0.02	0.19048	B	0.000016	0.62929	D	0.000000	0.620641	0.32702	D	-1.085	0.01025	N	5.48	0.00939	T	0.67	0.02263	N	0.243	0.27435	-0.9690	0.37407	T	0.001	0.00438	T	10	0.055755317	0.06145	T	0.002207	0.04178	T	0.267	0.58126	0.459	0.52590	0.201204373187	0.19734	0.0742230664662008	0.07359	0.772036083369	0.64816	0.841368913651	0.88303	D	0.009396	0.08559	T	-0.141997	0.29572	T	-0.441745	0.28612	T	0.584000706672668	0.35772	D	0.533947	0.17813	T	0.23049799	0.45806	0.17751157	0.40358	0.23049799	0.45806	0.17751157	0.40357	0.216	0.00281	T	.	.	0.738	0.74557	P	.	.	2.217844	0.28299	17.75	0.81152909122954719	0.13545	0.00023	0.00238	N	AEFDBHCI	0.090160	0.18271	N	-0.7818342535366	0.13782	0.6815617	-0.553108452961092	0.20723	1.117824	0.00775812414055072	0.11537	0.556989	0.30585	1	0.588066	0.40923	0	0.608884	0.39905	0	0.297325	0.05528	3	.	.	4.71	3.6	0.40374	0.076000	0.14570	.	.	0.507000	0.23093	0.009000	0.18154	0.001000	0.17328	0.999000	0.91618	0.0:0.7444:0.2556:0.0	13.125	0.58766	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	693.98	33	chr19	57979081	.	C	A	693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-02;DP=782;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.54;ReadPosRankSum=-1.344e+00;SOR=0.664	GT:AD:DP:GQ:PL	0/1:59,33:92:99:708,0,1460	20	0	1	0
chr20	2865421	2865421	G	A	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon18:c.G1765A:p.A589T	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.995	D	0.903	P	0.000	D	1.000	D	1.67	L	0.96	T	-0.825	T	0.210	T	0.588	3.142	16.51	5.64	2.655	4.767	17.198	0.123	0.0120488276617	.	0.000199681	6.63e-05	0	0	0.0002	0.0002	1.508e-05	0.0022	0.0001	5.82e-05	9	154602	rs529582383	3.831e-05	3.831e-05	2.314e-05	5.363e-05	0.0007	3.025e-05	2.719e-05	0.0002	0.0001	2.987e-05	2.236e-05	0	0.0002	0	0.0007	1.259e-05	9.934e-05	0.0003	7.876e-05	7.873e-05	5.139e-05	0.0001	0.0010	4.492e-05	3.509e-05	0.0004	0.0003	2.405e-05	0	0	0	0.0008	0	0	1.47e-05	0.0005	0.0010	0.304	0.14303	T	0.339	0.18071	T	0.995	0.67487	D	0.903	0.64103	P	0.000000	0.84330	D	0.049358	1	0.81001	D	1.66	0.42513	L	0.96	0.42888	T	-0.93	0.39503	N	0.7	0.71232	-0.8245	0.53651	T	0.210	0.56933	T	10	0.36082017	0.52717	T	0.012049	0.30270	T	0.123	0.34020	0.674	0.81200	0.494433119893	0.49078	0.6441469812253703	0.64349	0.73719295691	0.63037	0.489508867264	0.37370	T	0.074577	0.34972	T	-0.264995	0.12321	T	-0.326275	0.41882	T	0.133033378778139	0.15660	T	0.952205	0.81731	D	0.3167183	0.54361	0.23870814	0.49200	0.3167183	0.54361	0.23870814	0.49199	-7.755	0.59389	D	.	.	0.193	0.41264	B	.;.	.;.	4.807511	0.78178	26.8	0.99846071452540563	0.92576	0.89557	0.50097	D	AEFDBCI	0.606754	0.59698	D	0.536378530525652	0.69258	5.33131	0.591081021750271	0.74299	6.113425	0.9987682253811	0.37623	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	4.870000	0.62730	9.932000	0.82588	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.198	0.86778	480	0.77422	Vps16, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3873.11	33	chr20	2865421	.	G	A	3873.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.827e+00;DP=969;ExcessHet=0.1072;FS=2.646;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.816;SOR=0.539	GT:AD:DP:GQ:PL	0/1:61,57:118:99:1451,0,1647	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	0/1:54,44:101:99:390,0,744	5	0	16	0
chr20	17975788	17975788	A	G	exonic	MGME1	.	nonsynonymous SNV	MGME1:NM_001363738:exon3:c.A376G:p.I126V	Mitochondrial DNA depletion syndrome 11, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.005	B	0.011	N	1.000	N	0	N	1.01	T	-1.057	T	0.037	T	0.04	-0.388	2.180	-2.63	-0.148	-1.046	4.022	0.005	0.00764950922908	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466690078	1.437e-05	1.437e-05	1.497e-05	1.375e-05	7.557e-05	9.23e-06	7.84e-06	2.003e-05	1.055e-05	0	0	0	7.557e-05	0	0	1.529e-05	1.656e-05	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	0.593	0.05936	T	0.43	0.15255	T	0.003	0.11197	B	0.005	0.11217	B	0.010588	0.29863	N	0.378729	1	0.20887	N	0.64	0.16041	N	1.01	0.41058	T	-0.19	0.12099	N	0.059	0.03069	-1.0567	0.12595	T	0.037	0.15943	T	10	0.03745523	0.02101	T	0.00765	0.20299	T	0.005	0.00259	0.358	0.36060	0.222439326576	0.21863	0.2734044307972881	0.27253	0.0724592716056	0.08123	0.274040579796	0.06675	T	0.091908	0.54583	T	-0.354175	0.04470	T	-0.746525	0.03623	T	0.0312517489766172	0.02186	T	0.665033	0.27384	T	0.079684995	0.18217	0.05222864	0.08564	0.079684995	0.18217	0.05222864	0.08564	-4.015	0.24027	T	0.10130178131428147	0.07572	0.068	0.04238	B	.;.	.;.	0.319446	0.06938	3.486	0.61784522800597175	0.06796	0.06149	0.12130	N	AEFBI	0.048654	0.08324	N	-1.40697241427717	0.02577	0.113978	-1.37087397813362	0.03566	0.1665911	0.999733983842303	0.42341	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.49	-2.63	0.05775	-0.975000	0.03900	-0.246000	0.10547	-0.576000	0.04747	0.000000	0.06391	0.000000	0.08366	0.777000	0.36790	0.2236:0.1114:0.4817:0.1833	4.022	0.09158	782	0.47442	PD-(D/E)XK endonuclease-like domain, AddAB-type;PD-(D/E)XK endonuclease-like domain, AddAB-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	1	0	0	0	0.02381	1014.98	39	chr20	17975788	.	A	G	1014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e+00;DP=785;ExcessHet=0.0000;FS=0.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-1.391e+00;SOR=0.866	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1029,0,1034	20	0	1	0
chr20	18414461	18414461	G	T	exonic	DZANK1	.	nonsynonymous SNV	DZANK1:NM_018152:exon11:c.C610A:p.H204N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.799	P	0.331	B	0.044	N	0.921	N	0.95	L	0.63	T	-0.916	T	0.152	T	0.136	2.653	14.83	1.21	0.238	2.030	12.514	0.052	.	.	0.00379393	0.0024	0	0	0	0	0	0.0024	0.0164	0.0017594	272	154602	rs149741633	0.0010	0.0010	0.0005	0.0015	0.0163	0.0010	0.0010	0.0156	0.0153	0	4.48e-05	0	0	0	0.0010	1.799e-05	0.0010	0.0163	0.0005	0.0005	0.0003	0.0008	0.0163	0.0004	0.0004	0.0134	0.0124	0	0	6.531e-05	0	0.0002	0	0	0	0	0.0163	0.04	0.42199	D	0.175	0.33330	T	0.027	0.19556	B	0.023	0.19966	B	0.043827	0.23700	N	0.517266	0.921283	0.27287	N	1.565	0.39561	L	-0.04	0.63240	T	-2.28	0.50830	N	0.321	0.46086	-0.9162	0.46063	T	0.152	0.48135	T	10	0.0038963854	0.00074	T	.	.	.	0.052	0.14661	0.404	0.43573	0.363751660372	0.35992	0.28379595700605925	0.28292	0.080610085718	0.09072	0.352972835302	0.18358	T	0.005197	0.24667	T	-0.469576	0.00855	T	-0.434316	0.29446	T	0.0343076124340056	0.02689	T	0.89801	0.64352	D	0.33601317	0.55960	0.22845569	0.47887	0.33601317	0.55960	0.22845569	0.47886	-8.62	0.65222	D	.	.	0.109	0.23290	B	.;.;.;.	.;.;.;.	2.822975	0.37193	20.4	0.97147675471940576	0.32573	0.88689	0.48736	D	AEFDBI	0.255532	0.37463	N	-0.173431898017422	0.34243	1.952231	-0.0890796437538329	0.35839	2.078346	0.00164215277638661	0.08740	0.653281	0.48532	0	0.624146	0.53433	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.82	1.21	0.20240	1.853000	0.38998	3.244000	0.36984	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.2672:0.0:0.7328:0.0	12.514	0.55366	665	0.61472	Double zinc ribbon;Double zinc ribbon;Double zinc ribbon;Double zinc ribbon	.	.	.	.	.	Likely benign	0	0	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	1518.98	33	chr20	18414461	.	G	T	1518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=832;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=1.11;SOR=0.779	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1533,0,1662	20	0	1	0
chr20	18414509	18414509	C	T	exonic	DZANK1	.	nonsynonymous SNV	DZANK1:NM_018152:exon11:c.G562A:p.G188S	.	.	435	1063	24	0	0	24	0.0111628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.221	B	0.042	B	0.593	N	1.000	N	0.725	N	0.71	T	-1.036	T	0.084	T	0.395	2.040	12.78	-2.79	-0.296	0.247	12.607	0.100	.	0.0029	0.0163738	0.0121	0.0108	0.0031	0.0157	0.0002	0.0030	0.0188	0.0475	0.0071603	1107	154602	rs117387390	0.0040	0.0041	0.0030	0.0051	0.0397	0.0039	0.0039	0.0386	0.0381	0.0052	0.0020	0.0131	0.0170	9.461e-05	0.0102	0.0008	0.0054	0.0397	0.0051	0.0051	0.0046	0.0057	0.0461	0.0048	0.0047	0.0411	0.0392	0.0074	0.0044	0.0035	0.0147	0.0094	0	0.0102	0.0011	0.0057	0.0461	0.657	0.04742	T	0.995	0.03840	T	0.048	0.22112	B	0.007	0.12992	B	0.593465	0.11027	N	0.846150	1	0.08975	N	1.03	0.25572	L	0.03	0.62183	T	-0.52	0.16187	N	0.093	0.07262	-1.0355	0.18700	T	0.084	0.32729	T	10	0.0018946826	0.00026	T	.	.	.	0.100	0.28662	.	.	0.0716867268079	0.06686	0.32981247459072005	0.32894	0.0444781176994	0.04800	0.299264848232	0.10291	T	0.002958	0.19158	T	-0.440485	0.01285	T	-0.375516	0.36245	T	0.00886681408336766	0.00110	T	0.468753	0.13831	T	0.07891306	0.18000	0.079279974	0.17834	0.07891306	0.17999	0.079279974	0.17834	-7.373	0.56714	T	.	.	0.092	0.15115	B	.;.;.;.	.;.;.;.	1.745336	0.22204	15.52	0.77975688133924737	0.12102	0.07701	0.13704	N	AEFBI	0.077546	0.15626	N	-0.956470880121285	0.09548	0.4523762	-0.949479354296899	0.10934	0.5539916	0.00333530487472292	0.10062	0.653281	0.48532	0	0.659037	0.61890	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.94	-2.79	0.05494	0.319000	0.19270	0.529000	0.19232	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.0:0.4367:0.0:0.5633	12.607	0.55885	665	0.61472	Double zinc ribbon;Double zinc ribbon;Double zinc ribbon;Double zinc ribbon	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1276.98	33	chr20	18414509	.	C	T	1276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=788;ExcessHet=0.0000;FS=1.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=-1.659e+00;SOR=0.466	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1291,0,975	20	0	1	0
chr20	20196636	20196636	G	A	exonic	CFAP61	.	nonsynonymous SNV	CFAP61:NM_015585:exon16:c.G1657A:p.E553K,	.	.	437	1051	34	0	0	34	0.0159176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.871	P	0.14	B	0.002	N	1.000	D	1.79	L	2.9	T	-1.029	T	0.026	T	0.599	3.470	17.76	4.86	1.393	4.513	16.716	0.137	.	0.0012	0.00279553	0.0024	0.0004	0.0012	0	0.0003	0.0014	0.0044	0.0105	0.0020892	323	154602	rs116476718	0.0015	0.0015	0.0012	0.0017	0.0107	0.0014	0.0014	0.0101	0.0099	5.974e-05	0.0009	0.0006	2.519e-05	0.0002	0.0094	0.0009	0.0019	0.0107	0.0010	0.0010	0.0010	0.0011	0.0091	0.0009	0.0009	0.0070	0.0062	7.226e-05	0.0175	0.0005	0.0009	0	0.0002	0	0.0012	0.0014	0.0091	0.22	0.18956	T	0.127	0.35082	T	0.861	0.47410	P	0.138	0.33406	B	0.002156	0.37138	N	0.256129	0.997005	0.81001	D	.	.	.	2.9	0.10101	T	-2.15	0.48687	N	0.626	0.64052	-1.0291	0.20746	T	0.026	0.11043	T	10	0.008395076	0.00190	T	.	.	.	0.137	0.36984	.	.	0.286848849266	0.28300	0.5781481004799673	0.57743	0.206687281271	0.23104	.	.	.	0.062483	0.31927	T	-0.448646	0.01150	T	-0.409263	0.32310	T	0.0240949992989467	0.01157	T	0.820918	0.48005	T	0.20001093	0.41961	0.20091796	0.44046	0.20001093	0.41961	0.20091796	0.44045	-8.572	0.64904	D	.	.	0.137	0.29941	B	.	.	4.101623	0.61165	24.3	0.99823540842108671	0.90590	0.86271	0.45519	D	AEFDBCI	0.668236	0.63608	D	0.100793035679368	0.46499	2.889373	0.14371737324171	0.46809	2.920971	0.999966064506883	0.48965	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.83	4.86	0.62624	4.617000	0.60907	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.1295:0.8705:0.0	16.716	0.85256	705	0.57330	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4665.11	36	chr20	20196636	.	G	A	4665.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.50;DP=1061;ExcessHet=0.1072;FS=0.370;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.856;SOR=0.733	GT:AD:DP:GQ:PL	0/1:121,116:237:99:2849,0,2661	19	0	2	0
chr20	21397128	21397163	GCGGCCGCCGCCGCCGCAGCTGCTGCCGCCGCCGCC	-	exonic	NKX2-4	.	nonframeshift deletion	NKX2-4:NM_033176:exon1:c.237_272del:p.A80_A91del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	.	0	0	0	3.84e-05	1	26028	rs768591128	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0011	0.0008	0.0002	0	0	0	0	0.0023	0.0002	0.0003	0.0005	0.0001	0.0001	0.0001	9.565e-05	0.0004	7.682e-05	6.368e-05	7.29e-05	4.305e-05	0.0001	0	0	0	0	0	0	0.0001	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	681.94	34	chr20	21397127	.	GGCGGCCGCCGCCGCCGCAGCTGCTGCCGCCGCCGCC	G	681.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.130e-01;DP=737;ExcessHet=0.0000;FS=2.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.05;ReadPosRankSum=0.462;SOR=1.179	GT:AD:DP:GQ:PL	0/1:22,18:40:99:696,0,853	20	0	1	0
chr20	23493054	23493054	A	G	exonic	CST8	.	nonsynonymous SNV	CST8:NM_001281730:exon3:c.A328G:p.N110D	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.01	B	0.025	B	0.738	N	1.000	N	0.62	N	2.63	T	-0.924	T	0.020	T	0.051	-1.547	0.015	0.972	0.131	0.709	6.210	0.019	0.00200584022535	0.0002	0.000798722	0.0006	0	0.0002	0	0.0002	0.0006	0	0.0021	0.0005304	82	154602	rs200703356	0.0004	0.0004	0.0003	0.0005	0.0030	0.0004	0.0003	0.0019	0.0018	0	0.0002	0.0010	0	9.387e-05	0.0030	0.0002	0.0007	0.0022	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0001	0.0014	0.0011	0	0	6.541e-05	0	0	0	0.0102	0.0002	0.0005	0.0025	0.912	0.02442	T	0.712	0.05622	T	0.01	0.15535	B	0.025	0.20508	B	0.738246	0.09798	N	0.875959	1	0.08975	N	0.635	0.15989	N	2.63	0.14038	T	-0.27	0.13226	N	0.172	0.18376	-0.9242	0.44971	T	0.020	0.08313	T	10	0.005273968	0.00115	T	0.002006	0.03615	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.12202034405938092	0.12129	0.00144250031491	0.00121	0.495035260916	0.38137	T	0.039595	0.25243	T	-0.706336	0.00033	T	-0.793855	0.02060	T	0.0121895960997703	0.00196	T	0.307569	0.05925	T	0.065364726	0.13961	0.05466826	0.09447	0.065364726	0.13960	0.05466826	0.09447	-2.849	0.08643	T	.	.	0.090	0.15788	B	.;.	.;.	1.317747	0.17215	13.03	0.24084020744119419	0.01048	0.04365	0.09937	N	AEFBHCI	0.036195	0.04783	N	-1.23948757390638	0.04439	0.2003709	-1.24361823320199	0.05227	0.2485129	8.7921585068858E-5	0.04703	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.4	0.972	0.18824	1.117000	0.30848	1.928000	0.29753	-0.057000	0.16691	0.030000	0.20431	0.006000	0.19429	0.002000	0.04165	0.6945:0.0:0.3055:0.0	6.210	0.19839	867	0.32089	Cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Cystatin domain|Cystatin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1031.98	40	chr20	23493054	.	A	G	1031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.159e+00;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=-4.600e-01;SOR=0.764	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1046,0,980	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	0/1:65,44:120:99:201,0,1033	2	0	19	0
chr20	35466182	35466182	G	A	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_007186:exon7:c.G470A:p.S157N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.992	D	0.948	D	0.000	N	0.814	N	1.825	L	2.89	T	-0.757	T	0.292	T	0.143	3.140	16.50	5.39	2.503	3.541	16.930	0.169	0.0195907131719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.91e-07	6.842e-07	1.373e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.672e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.65419	D	0.01	0.72224	D	0.992	0.64738	D	0.948	0.68536	D	0.000307	0.00561	N	3.758110	0.813624	0.28970	N	1.995	0.54099	M	2.85	0.45248	T	-2.39	0.53258	N	0.511	0.54234	-0.7573	0.57551	T	0.292	0.66412	T	10	0.2783443	0.45404	T	0.019591	0.41992	T	0.169	0.43123	0.193	0.10437	0.567064501529	0.56369	0.22593691439536634	0.22508	0.599782747456	0.55084	0.560197114944	0.47296	T	0.036943	0.32516	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.825030370843214	0.48148	D	0.846915	0.53996	T	0.25235692	0.48250	0.25757244	0.51476	0.25235692	0.48250	0.25757244	0.51476	-3.977	0.23458	T	.	.	0.117	0.38190	B	.;.;.;.	.;.;.;.	3.983217	0.58568	24.0	0.99526756370572023	0.69591	0.82463	0.41687	D	AEFDBHCIJ	0.307806	0.41457	N	0.668227390081113	0.77553	6.696854	0.659302106035942	0.79307	7.054434	0.999998318439002	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	2.827000	0.47813	9.971000	0.82862	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.930	0.86057	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	0.03125	51.05	81	chr20	35466182	.	G	A	51.05	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-2.165e+00;DP=1560;ExcessHet=0.0000;FS=43.008;InbreedingCoeff=-0.0926;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=0.644;SOR=5.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,17:92:63:0|1:35466180_G_A:63,0,1861:35466180	15	0	1	5
chr20	41362193	41362193	C	T	exonic	EMILIN3	.	nonsynonymous SNV	EMILIN3:NM_052846:exon4:c.G1376A:p.G459E,	.	.	434	1045	38	4	1	47	0.0215356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.883	P	0.36	B	0.569	N	1.000	N	1.7	L	2.6	T	-1.040	T	0.016	T	0.117	0.050	4.272	0.116	0.146	0.494	7.074	0.087	.	0.0016	0.0105831	0.0065	0.0019	0.0178	0.0145	0	0.0021	0.0090	0.0180	0.006203	959	154602	rs2235591	0.0045	0.0045	0.0041	0.0048	0.0321	0.0044	0.0043	0.0306	0.0300	0.0008	0.0178	0.0013	0.0321	0	0.0097	0.0022	0.0056	0.0182	0.0042	0.0042	0.0039	0.0045	0.0199	0.0039	0.0038	0.0168	0.0156	0.0012	0	0.0147	0.0020	0.0199	0	0.0068	0.0021	0.0104	0.0182	1.0	0.00964	T	0.17	0.30436	T	0.883	0.48537	P	0.36	0.43183	B	0.569009	0.11258	N	0.787443	1	0.08975	N	1.78	0.46185	L	2.6	0.13204	T	-1.03	0.27052	N	0.126	0.11912	-1.0395	0.17465	T	0.016	0.06616	T	9	0.0035164952	0.00063	T	.	.	.	0.087	0.25287	.	.	0.274366138417	0.27033	0.4090357898995136	0.40819	0.194200511898	0.21755	0.307287752628	0.11497	T	0.005593	0.05042	T	-0.64763	0.00075	T	-0.688115	0.06498	T	0.0123370872206633	0.00200	T	0.462854	0.13445	T	0.050630543	0.09178	0.059650447	0.11231	0.050630543	0.09177	0.059650447	0.11231	-3.756	0.20149	T	.	.	0.069	0.03231	B	.	.	1.182456	0.15731	12.06	0.88620130383890861	0.18120	0.15972	0.19170	N	AEFDBCI	0.129058	0.24707	N	-0.63572866531942	0.17878	0.9237465	-0.781991029340394	0.14937	0.7830685	0.032117950665719	0.14038	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.96	0.116	0.13953	0.103000	0.15128	1.404000	0.26222	-0.216000	0.08207	0.000000	0.06391	0.023000	0.20922	0.214000	0.22296	0.1633:0.5833:0.0:0.2535	7.074	0.24370	950	0.11238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3839.11	34	chr20	41362193	.	C	T	3839.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.46;DP=1067;ExcessHet=0.1072;FS=1.396;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=0.886;SOR=0.592	GT:AD:DP:GQ:PL	0/1:60,74:134:99:1866,0,1337	19	0	2	0
chr20	41416769	41416769	T	C	exonic	CHD6	.	nonsynonymous SNV	CHD6:NM_032221:exon33:c.A6305G:p.D2102G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.976	D	0.612	P	0.000	D	1.000	D	2.415	M	-3.17	D	0.838	D	0.829	D	0.942	5.060	31	5.57	2.248	7.997	16.035	0.942	0.337114537755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.919e-07	6.84e-07	0	1.396e-06	9.077e-07	0	0	.	.	0	0	0	0	0	0	9.077e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.976	0.58310	D	0.612	0.51145	P	0.000006	0.62929	D	0.000000	0.999995	0.58761	D	2.85	0.82803	M	-3.17	0.93054	D	-5.6	0.86608	D	0.882	0.88027	0.838	0.94881	D	0.829	0.94245	D	10	0.94815457	0.94145	D	0.337115	0.91913	D	0.942	0.98780	0.779	0.90388	0.955942297982	0.95547	0.7923815222132432	0.79190	0.753774766395	0.63915	0.697189450264	0.66738	T	0.707107	0.91615	D	0.494793	0.94145	D	0.472959	0.94068	D	0.99029666185379	0.80512	D	0.972203	0.89922	D	0.80245364	0.84063	0.8030114	0.88459	0.80245364	0.84064	0.8030114	0.88460	-9.486	0.70772	D	.	.	0.879	0.81404	P	.	.	5.104084	0.85296	28.6	0.99887021260468778	0.96204	0.99365	0.95074	D	AEFDBHI	0.870078	0.79090	D	0.72194309665352	0.81072	7.437139	0.730459916063227	0.84693	8.36323	0.999999918219469	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	8.017000	0.88732	7.900000	0.73503	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.035	0.80419	937	0.14592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2047.98	34	chr20	41416769	.	T	C	2047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.806e+00;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=0.546;SOR=0.705	GT:AD:DP:GQ:PL	0/1:63,76:139:99:2062,0,1682	20	0	1	0
chr20	46350521	46350521	T	C	exonic	SLC35C2	.	nonsynonymous SNV	SLC35C2:NM_001281457:exon10:c.A629G:p.D210G	.	.	422	1088	12	0	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.001	B	0.001	B	0.006	N	0.939	D	0.205	N	0.93	T	-0.897	T	0.150	T	0.249	2.192	13.29	3.54	0.820	1.313	7.909	0.030	0.0086109082072	0.0021	0.00179712	0.0021	0.0003	0.0016	0	0.0018	0.0030	0.0023	0.0011	0.0018758	290	154602	rs143795303	0.0018	0.0018	0.0018	0.0018	0.0053	0.0018	0.0017	0.0038	0.0033	6.192e-05	0.0014	0.0162	0	0.0011	0.0053	0.0016	0.0029	0.0013	0.0015	0.0015	0.0015	0.0015	0.0020	0.0013	0.0013	0.0015	0.0014	0.0001	0	0.0020	0.0179	0	0.0005	0.0102	0.0017	0.0024	0.0002	0.163	0.23450	T	0.378	0.28032	T	0.0	0.02946	B	0.0	0.01387	B	0.006365	0.32080	N	0.257775	0.938683	0.37234	D	1.01	0.25309	L	.	.	.	-1.4	0.34596	N	0.151	0.16586	-0.8973	0.48264	T	0.150	0.47681	T	10	0.0027718544	0.00043	T	0.008611	0.22755	T	0.030	0.07022	.	.	0.151104730317	0.14643	0.38103868468112606	0.38018	0.41808778898	0.42406	0.356770187616	0.18914	T	0.044574	0.26857	T	-0.455216	0.01052	T	-0.432211	0.29685	T	0.00793546066681542	0.00093	T	0.746125	0.37642	T	0.1882468	0.40314	0.08651374	0.20048	0.1882468	0.40314	0.08651374	0.20048	-1.853	0.02672	T	.	.	0.058	0.00693	B	.;.;.;.;.	.;.;.;.;.	2.308493	0.29544	18.16	0.9667532234322993	0.30679	0.63907	0.32236	D	ALL	0.157506	0.28302	N	-0.533987106294768	0.20989	1.110562	-0.377810688370747	0.25660	1.412503	0.999999999999923	0.74766	0.741868	0.97996	0	0.749866	0.99406	0	0.774882	0.98623	0	0.648885	0.59868	0	.	.	4.63	3.54	0.39650	1.369000	0.33832	3.394000	0.38086	0.665000	0.62972	0.924000	0.32081	1.000000	0.68203	0.968000	0.53726	0.0:0.0927:0.0:0.9073	7.909	0.28941	899	0.25060	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	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	882.98	36	chr20	46350521	.	T	C	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=9.000e-03;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.05;ReadPosRankSum=0.990;SOR=0.822	GT:AD:DP:GQ:PL	0/1:23,32:55:99:897,0,551	20	0	1	0
chr20	47627951	47627951	C	T	exonic	NCOA3	.	nonsynonymous SNV	NCOA3:NM_001174087:exon8:c.C751T:p.R251C	.	.	.	.	.	.	.	.	.	.	.	2675520	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.983	D	0.000	D	1.000	D	1.68	L	4.07	T	-1.177	T	0.033	T	0.961	4.557	24.7	4.78	1.401	2.443	13.880	0.346	0.015408985187	.	.	4.12e-05	0	0	0	0	7.494e-05	0	0	4.53e-05	7	154602	rs773805737	0.0001	0.0001	9.803e-05	0.0001	0.0001	8.849e-05	8.334e-05	0.0001	0.0001	2.987e-05	0	0	0	0	0	0.0001	6.624e-05	1.159e-05	5.257e-05	5.25e-05	3.857e-05	6.72e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0.0034	0.0001	0	0	0.066	0.36709	T	0.003	0.76473	D	0.969	0.90584	D	0.622	0.75793	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	4.07	0.03435	T	-6.26	0.90608	D	0.926	0.93252	-1.1768	0.00419	T	0.033	0.14377	T	10	0.81121397	0.80403	D	0.015409	0.36125	T	0.346	0.66769	0.583	0.70990	0.795642183836	0.79373	0.850377765640294	0.84999	0.634968755684	0.57331	0.748650670052	0.74247	T	0.572297	0.85858	D	0.0474887	0.58018	T	0.0221204	0.71767	D	0.746321022510529	0.43081	D	0.978302	0.92360	D	0.46341982	0.64883	0.3479788	0.60444	0.46341982	0.64884	0.3479788	0.60444	-9.349	0.69946	D	.	.	0.957	0.87684	P	.;.;.	.;.;.	4.886045	0.80171	27.3	0.99927685664842103	0.99163	0.96920	0.71664	D	AEFBI	0.613024	0.60088	D	0.406634834652674	0.61787	4.384545	0.429889555261997	0.63436	4.577227	0.999999794296105	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.73	4.78	0.60666	3.106000	0.50013	5.968000	0.51946	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2773:0.7227:0.0:0.0	13.880	0.63177	126	0.94940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1185.98	38	chr20	47627951	.	C	T	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-03;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=1.00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1200,0,1142	20	0	1	0
chr20	47651122	47651122	A	0	exonic	NCOA3	.	.	.	.	.	356	888	231	20	27	298	0.132389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4251.95	38	chr20	47651122	.	A	G,*	4251.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=-1.168e+00;DP=1198;ExcessHet=0.6776;FS=2.493;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=1.98;SOR=0.529	GT:AD:DP:GQ:PL	0/1:66,58,0:124:99:1372,0,2435,1472,2422,4068	17	0	3	0
chr20	51516833	51516833	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223C:p.G408A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.68	T	0.381	D	0.611	D	0.933	4.885	28.0	5.25	2.455	7.813	18.871	0.869	0.202108400602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.732e-05	0.0017	0.0001	8.733e-05	0.0001	8.384e-05	7.919e-05	0.0001	9.607e-05	6.032e-05	0	3.84e-05	2.523e-05	0	0	0.0001	6.668e-05	2.326e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.68	0.72568	T	-5.56	0.86296	D	0.901	0.91505	0.381	0.88810	D	0.611	0.86246	D	10	0.8972913	0.89084	D	0.202108	0.86802	D	0.869	0.96059	0.673	0.81101	0.917666431197	0.91683	0.8047902846343375	0.80433	1.22105697637	0.81090	0.817002594471	0.84569	D	0.649316	0.89339	D	0.387933	0.89203	D	0.319463	0.89067	D	0.996825218200684	0.90159	D	0.999309	0.99724	D	0.9031787	0.91670	0.80110663	0.88338	0.9031787	0.91671	0.80110663	0.88339	-12.7	0.88324	D	.	.	0.999	0.99219	P	.;.;.;.;.;.	.;.;.;.;.;.	5.269992	0.88488	29.6	0.99874407340726401	0.95160	0.98728	0.86094	D	AEFDBHI	0.894554	0.83366	D	0.910105444057895	0.92245	11.31442	0.843453264125031	0.92626	11.53706	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	465.47	36	chr20	51516833	.	C	G,T	465.47	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=-2.239e+00;DP=1071;ExcessHet=0.3300;FS=333.363;InbreedingCoeff=-0.0909;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=2.02;ReadPosRankSum=0.064;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,19,0:78:99:0|1:51516833_C_G:199,0,1520,375,1575,1950:51516833	17	0	1	1
chr20	51516833	51516833	C	T	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223A:p.G408D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.7	T	0.381	D	0.611	D	0.957	5.041	29.8	5.25	2.455	7.813	18.871	0.893	0.262073555344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.882e-07	2.056e-06	0	1.383e-06	9.057e-07	0	0	.	.	0	0	0	0	0	0	9.057e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.7	0.72785	T	-6.5	0.91609	D	0.94	0.95608	0.381	0.88810	D	0.611	0.86246	D	10	0.9135088	0.90714	D	0.262074	0.89547	D	0.893	0.96947	0.711	0.84691	0.919610210409	0.91879	0.8600597117562743	0.85969	1.36751619527	0.84468	0.868866324425	0.92406	D	0.671936	0.90273	D	0.38892	0.89260	D	0.32088	0.89126	D	0.997196435928345	0.90986	D	0.999049	0.99552	D	0.9028719	0.91642	0.8530377	0.91708	0.9028719	0.91643	0.8530377	0.91709	-13.698	0.92426	D	.	.	1.000	0.99795	P	.;.;.;.;.;.	.;.;.;.;.;.	5.517230	0.91744	32	0.99867588980001254	0.94547	0.98253	0.80960	D	AEFDBHI	0.905011	0.85599	D	0.910254360952043	0.92253	11.31834	0.843558426454481	0.92633	11.54079	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	465.47	36	chr20	51516833	.	C	G,T	465.47	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=-2.239e+00;DP=1071;ExcessHet=0.3300;FS=333.363;InbreedingCoeff=-0.0909;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=2.02;ReadPosRankSum=0.064;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,19,0:78:99:0|1:51516833_C_G:199,0,1520,375,1575,1950:51516833	17	0	1	1
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.72	T	0.381	D	0.611	D	0.955	5.001	29.4	5.25	2.455	7.813	18.871	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3182	1110.73	33	chr20	51516834	.	C	G	1110.73	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.139e+00;DP=1283;ExcessHet=2.5830;FS=294.373;InbreedingCoeff=-0.4045;MLEAC=10;MLEAF=0.455;MQ=60.00;MQRankSum=0.00;QD=2.00;ReadPosRankSum=-4.600e-02;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,19:78:99:0|1:51516833_C_G:199,0,1520:51516833	4	0	7	10
chr20	57175004	57175004	T	C	exonic	BMP7	.	nonsynonymous SNV	BMP7:NM_001719:exon5:c.A962G:p.N321S,	.	.	421	1082	17	2	0	21	0.00961098	.	.	705564	Congenital_total_pulmonary_venous_return_anomaly|not_provided|BMP7-related_disorder	Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.77	T	0.167	B	0.07	B	0.000	N	1.000	D	1.1	L	-0.03	T	-0.843	T	0.174	T	0.062	-0.736	0.860	4.0	0.788	3.862	10.598	0.176	.	0.0018	0.00758786	0.0059	0.0008	0.0037	0.0003	0	0.0046	0.0051	0.0221	0.0051358	794	154602	rs61733438	0.0037	0.0037	0.0032	0.0041	0.0198	0.0036	0.0035	0.0172	0.0169	0.0011	0.0048	0.0161	5.04e-05	0.0002	0.0198	0.0024	0.0051	0.0179	0.0034	0.0034	0.0031	0.0037	0.0203	0.0032	0.0031	0.0170	0.0158	0.0008	0	0.0084	0.0127	0.0002	9.413e-05	0.0374	0.0028	0.0085	0.0203	0.742	0.08286	T	0.76	0.08900	T	0.0	0.28604	B	0.0	0.27859	B	0.000004	0.62929	N	0.139157	0.999999	0.58761	D	2.3	0.65703	M	-0.92	0.80214	T	-0.87	0.23590	N	0.198	0.21839	-0.8433	0.52426	T	0.174	0.51785	T	10	0.004758686	0.00109	T	.	.	.	0.176	0.44373	.	.	0.733870232206	0.73149	0.5379691657174063	0.53721	0.536218814805	0.50959	0.52202296257	0.41911	T	0.461817	0.79843	T	-0.461241	0.00966	T	-0.42038	0.31031	T	0.00601530324700459	0.00066	T	0.873613	0.58243	D	0.08295598	0.19135	0.05584124	0.09868	0.066140905	0.14201	0.05584124	0.09867	-1.466	0.01696	T	.	.	0.087	0.12797	B	.;.;.	.;.;.	1.185591	0.15766	12.09	0.31205754460880536	0.01746	0.76984	0.37803	D	AEFGBCI	0.388958	0.46837	N	-0.626331477560761	0.18157	0.940369	-0.491525585198468	0.22386	1.215639	0.946058912107186	0.27688	0.706298	0.61202	0	0.491513	0.07743	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.1	4.0	0.45673	3.760000	0.54947	4.215000	0.42557	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.0761:0.0:0.9239	10.598	0.44537	963	0.08280	Transforming growth factor-beta, C-terminal;TGF-beta, propeptide|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	939.98	36	chr20	57175004	.	T	C	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=781;ExcessHet=0.0000;FS=0.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=1.09;SOR=0.892	GT:AD:DP:GQ:PL	0/1:35,32:67:99:954,0,882	20	0	1	0
chr20	63569517	63569517	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_001037335:exon5:c.G719A:p.R240H,	.	.	431	1085	5	1	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.001	B	0.001	B	0.188	N	1.000	N	0.41	N	-1.19	T	-0.982	T	0.198	T	0.071	0.556	7.005	-5.22	-0.639	-3.142	1.21	0.145	0.0329718144125	7.7e-05	.	0.0002	0	0	0	0	0.0001	0.0016	0.0006	9.7e-05	15	154602	rs377344395	9.81e-05	9.92e-05	7.643e-05	0.0001	0.0007	8.468e-05	7.944e-05	0.0004	0.0004	2.992e-05	0	0	7.597e-05	0	0.0007	7.383e-05	0.0001	0.0005	6.567e-05	6.566e-05	3.852e-05	9.409e-05	0.0008	3.515e-05	2.615e-05	0.0003	0.0002	2.411e-05	0	0	0	0	0	0	7.348e-05	0	0.0008	0.536	0.06891	T	0.583	0.08419	T	0.001	0.07471	B	0.001	0.04355	B	0.187573	0.03227	N	1.629700	1	0.08975	N	0.55	0.14455	N	-1.19	0.78427	T	-0.25	0.11008	N	0.037	0.01135	-0.9820	0.34538	T	0.198	0.55343	T	10	0.038633466	0.02295	T	0.032972	0.54648	D	0.145	0.38592	.	.	0.158396225186	0.15383	0.17771803658209204	0.17690	0.21845120166	0.24383	0.410784900188	0.26565	T	0.018923	0.15168	T	-0.491822	0.00635	T	-0.585664	0.14043	T	0.0264737487001913	0.01470	T	0.550545	0.18982	T	0.026835587	0.01791	0.021635188	0.00208	0.026835587	0.01791	0.021635188	0.00208	-3.506	0.16515	T	.	.	0.073	0.04847	B	.	.	0.180578	0.05683	2.129	0.96469651092321695	0.29932	0.05533	0.11426	N	AEFDGBCI	0.054236	0.09844	N	-1.31014601047634	0.03558	0.1591608	-1.39765545211521	0.03277	0.1525315	0.999889797917292	0.44867	0.700653	0.57754	0	0.694456	0.67091	0	0.717052	0.78885	0	0.683762	0.67416	0	.	.	4.5	-5.22	0.02592	-3.590000	0.00471	-3.694000	0.02600	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.2476:0.3675:0.1537:0.2313	1.21	0.01787	.	.	.	.	.	.	.	.	Uncertain significance	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	1429.98	84	chr20	63569517	.	C	T	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.685;DP=1046;ExcessHet=0.0000;FS=1.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=1.15;SOR=0.915	GT:AD:DP:GQ:PL	0/1:58,58:116:99:1444,0,2212	20	0	1	0
chr21	15877814	15877814	G	A	exonic	USP25	.	nonsynonymous SNV	USP25:NM_001352560:exon23:c.G2155A:p.A719T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.914	D	0.000	D	1.000	D	1.79	L	1.82	T	-0.897	T	0.147	T	0.788	4.925	28.5	5.58	2.641	9.412	19.160	0.204	.	0.0035	0.00379393	0.0017	0.0116	0.0009	0	0	0.0012	0	0	0.0014553	225	154602	rs34979861	0.0009	0.0009	0.0011	0.0008	0.0085	0.0009	0.0009	0.0077	0.0074	0.0085	0.0011	3.838e-05	5.057e-05	3.754e-05	0.0002	0.0009	0.0010	3.503e-05	0.0032	0.0032	0.0033	0.0030	0.0090	0.0029	0.0028	0.0083	0.0080	0.0090	0.0011	0.0028	0	0.0002	0.0002	0	0.0009	0.0009	0	0.084	0.43393	T	0.301	0.36101	T	0.956	0.77913	P	0.207	0.64984	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.995	0.54099	M	1.82	0.33630	T	-2.6	0.58085	D	0.692	0.77413	-0.8967	0.48322	T	0.147	0.47290	T	10	0.00778684	0.00177	T	.	.	.	0.204	0.49076	.	.	0.452476734342	0.44872	0.45655362566136426	0.45573	0.762233562967	0.64326	0.678966999054	0.64120	T	0.077981	0.35783	T	-0.214048	0.18812	T	-0.0728495	0.65423	T	0.0445578104128414	0.04522	T	0.876612	0.91743	D	0.5209732	0.68315	0.3169283	0.57671	0.5209732	0.68316	0.3169283	0.57670	-8.156	0.62579	D	.	.	0.498	0.65355	A	.;.;.;.	.;.;.;.	4.623822	0.73450	26.0	0.99907913845347573	0.97801	0.99299	0.94153	D	AEFBI	0.870997	0.79220	D	0.702715586896562	0.79811	7.157107	0.740790536902179	0.85466	8.589466	0.999999999996641	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.572000	0.97338	11.853000	0.98135	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	19.160	0.93514	909	0.22467	.;Ubiquitin specific protease domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	338.98	33	chr21	15877814	.	G	A	338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=729;ExcessHet=0.0000;FS=1.345;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.27;ReadPosRankSum=-2.060e-01;SOR=1.032	GT:AD:DP:GQ:PL	0/1:27,14:41:99:353,0,636	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|1:69,8:77:46:0|1:41918930_C_G:46,0,2622:41918930	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|1:70,8:78:44:0|1:41918930_C_G:44,0,2629:41918930	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|1:70,8:78:44:0|1:41918930_C_G:44,0,2629:41918930	12	0	9	0
chr21	42111559	42111559	C	A	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon11:c.C2121A:p.D707E	.	.	426	1020	74	2	0	78	0.0368272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.255	B	0.08	B	0.186	N	1.000	N	0.695	N	-0.51	T	-0.987	T	0.137	T	0.104	-0.430	1.999	0.034	0.165	-1.398	5.142	0.025	.	0.0048	0.00459265	0.0083	0.0012	0.0045	0	0.0023	0.0080	0.0056	0.0233	0.0075549	1168	154602	rs140135030	0.0070	0.0070	0.0063	0.0077	0.0354	0.0069	0.0068	0.0314	0.0299	0.0009	0.0054	0.0232	5.039e-05	0.0014	0.0354	0.0057	0.0088	0.0249	0.0054	0.0054	0.0051	0.0057	0.0188	0.0051	0.0050	0.0157	0.0146	0.0011	0	0.0082	0.0199	0	0.0007	0.0204	0.0067	0.0081	0.0188	0.325	0.27194	T	0.733	0.12142	T	0.187	0.31319	B	0.08	0.28873	B	0.185998	0.03216	N	1.688570	1	0.08975	N	1.5	0.37844	L	-0.53	0.70833	T	-0.8	0.22078	N	0.07	0.12055	-0.9874	0.33249	T	0.137	0.45432	T	10	0.002900362	0.00046	T	.	.	.	0.025	0.05312	0.13	0.03494	0.265010934533	0.26120	0.09560597137393033	0.09492	0.313514092549	0.33644	0.258530199528	0.04717	T	0.004089	0.03502	T	-0.549777	0.00293	T	-0.544907	0.17817	T	0.00342129005796419	0.00036	T	0.59884	0.23175	T	0.059739888	0.12177	0.045058846	0.05978	0.059739888	0.12177	0.045058846	0.05978	-2.767	0.07883	T	.	.	0.147	0.50871	B	.;.;.;.	.;.;.;.	-0.189392	0.03145	0.508	0.76817094624353499	0.11621	0.04875	0.10616	N	AEFDBHCI	0.102208	0.20509	N	-0.986139826949741	0.08899	0.4190532	-1.0491067709566	0.08725	0.4304242	0.996676952249143	0.34917	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.29	0.034	0.13502	-0.668000	0.05369	-1.372000	0.05595	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5592:0.1545:0.2863	5.142	0.14292	981	0.03995	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	2005.98	130	chr21	42111559	.	C	A	2005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=2718;ExcessHet=0.0000;FS=0.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=-1.860e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/1:70,74:144:99:2020,0,1766	20	0	1	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10995.83	42	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	A,*	10995.83	.	AC=12,6;AF=0.333,0.167;AN=36;BaseQRankSum=0.289;DP=1413;ExcessHet=0.4630;FS=5.341;InbreedingCoeff=0.1091;MLEAC=13,7;MLEAF=0.361,0.194;MQ=59.77;MQRankSum=-6.950e-01;QD=17.79;ReadPosRankSum=0.619;SOR=0.413	GT:AD:DP:GQ:PL	0/1:22,25,0:47:99:888,0,672,954,778,1732	5	1	7	3
chr21	44539415	44539415	T	C	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.A736G:p.M246V,	.	.	376	1144	2	0	0	2	0.000873362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.98	N	5.15	T	-1.006	T	0.006	T	0.115	-1.254	0.050	2.13	1.018	-0.139	8.161	0.039	.	0.0024	0.0061901	0.0027	0.0049	0.0025	0.0188	0.0003	0.0009	0.0011	0.0013	0.0024062	372	154602	rs147442908	0.0015	0.0015	0.0015	0.0014	0.0239	0.0014	0.0014	0.0226	0.0221	0.0056	0.0027	0.0040	0.0239	0.0002	0.0005	0.0005	0.0021	0.0008	0.0030	0.0030	0.0030	0.0029	0.0181	0.0028	0.0027	0.0151	0.0140	0.0058	0	0.0031	0.0052	0.0181	9.508e-05	0.0068	0.0005	0.0048	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.775	0.00026	N	5.15	0.01198	T	2.07	0.00375	N	0.05	0.02179	-1.0060	0.28156	T	0.006	0.02055	T	9	0.004144132	0.00082	T	.	.	.	0.084	0.24469	.	.	0.117506650769	0.11410	0.029886105557788454	0.02937	0.152316728517	0.17189	0.225969851017	0.01683	T	0.001636	0.01065	T	-0.715362	0.00030	T	-0.786065	0.02275	T	0.0058953990354577	0.00065	T	0.0382962	0.00264	T	0.046574116	0.07817	0.07941723	0.17877	0.046574116	0.07817	0.07941723	0.17877	2.894	0.00023	T	.	.	0.046	0.00054	B	.	.	-1.031802	0.00727	0.022	0.28855652487680794	0.01502	0.00040	0.00335	N	AEFBI	0.017418	0.00455	N	-1.07245889153555	0.07154	0.3314993	-1.06991178548566	0.08298	0.4073496	0.00117747460650372	0.08304	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.97	2.13	0.26445	-0.586000	0.05880	-6.102000	0.01496	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7889:0.0:0.2111	8.161	0.30359	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	8478.11	92	chr21	44539415	.	T	C	8478.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.80;DP=1975;ExcessHet=0.1072;FS=8.905;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.49;MQRankSum=-8.880e-01;QD=22.79;ReadPosRankSum=0.377;SOR=0.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,107:175:99:0|1:44539415_T_C:4262,0,2512:44539415	19	0	2	0
chr21	44540050	44540050	A	G	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.T101C:p.L34P,	.	.	394	1111	15	2	0	19	0.00847836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	0.992	D	-3.29	N	3.64	T	-0.941	T	0.002	T	0.215	0.014	4.085	1.46	0.252	1.227	9.354	0.092	0.00846627927985	0.0007	0.00139776	0.0003	0.0018	0.0002	0.0002	0	0.0001	0	0.0004	0.0003234	50	154602	rs200714107	0.0002	0.0002	0.0002	0.0002	0.0034	0.0002	0.0001	0.0022	0.0018	0.0016	0.0004	3.83e-05	7.559e-05	3.746e-05	0.0034	7.106e-05	0.0006	0.0004	0.0006	0.0006	0.0005	0.0006	0.0014	0.0005	0.0004	0.0011	0.0010	0.0014	0	0.0008	0	0.0006	0	0	5.885e-05	0.0005	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.991638	0.41436	D	-3.62	0.00002	N	3.64	0.04309	T	7.96	0.00001	N	0.108	0.09349	-0.9407	0.42505	T	0.002	0.00676	T	9	0.009858936	0.00221	T	0.008466	0.22407	T	0.092	0.26621	.	.	0.128392430309	0.12331	0.027897884915079402	0.02739	0.245867236024	0.27115	0.236011475325	0.02442	T	0.002097	0.01499	T	-0.62718	0.00100	T	-0.680462	0.06956	T	0.0100642158073704	0.00135	T	0.029797	0.00186	T	0.04090728	0.05925	0.11921703	0.28775	0.04090728	0.05925	0.11921703	0.28775	4.206	0.00007	T	.	.	0.034	0.00003	B	.	.	-0.185480	0.03164	0.516	0.85015568218554582	0.15634	0.00140	0.00856	N	AEFBI	0.010431	0.00075	N	-1.67656812146517	0.00928	0.04019491	-1.44471585467828	0.02818	0.1303358	1.59635401701515E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.3	1.46	0.21769	0.412000	0.20852	2.252000	0.31695	-1.486000	0.01052	0.133000	0.23395	0.419000	0.24798	0.002000	0.04165	0.1223:0.0:0.8777:0.0	9.354	0.37320	970	0.06235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4020.11	37	chr21	44540050	.	A	G	4020.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.662e+00;DP=1245;ExcessHet=0.1072;FS=1.343;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.76;MQRankSum=0.00;QD=12.93;ReadPosRankSum=1.99;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,70:146:99:1|0:44540035_G_A:1828,0,2743:44540035	19	0	2	0
chr21	44558616	44558616	T	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	99920.15	123	chr21	44558616	.	T	G,*	99920.15	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=0.718;DP=2610;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.23;MQRankSum=-1.477e+00;QD=30.87;ReadPosRankSum=0.806;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,89,0:89:99:.:.:3903,268,0,3903,268,3903	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	1/1:2,86,0:88:99:.:.:2853,215,0,2859,258,2903	0	17	3	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	11119.76	311	chr21	44637708	.	TGTCTGCTGTGTGCCC	T,*	11119.76	.	AC=2,21;AF=0.050,0.525;AN=40;DP=7560;ExcessHet=2.9564;FS=0.000;InbreedingCoeff=-0.1019;MLEAC=2,22;MLEAF=0.050,0.550;MQ=59.91;QD=2.06;SOR=0.752	GT:AD:DP:GQ:PL	2/2:0,0,311:311:99:13838,13838,13838,941,941,0	3	1	0	1
chr22	18609742	18609742	C	T	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.G1693A:p.E565K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.421	B	0.154	B	0.497	N	1.000	N	1.79	L	2.23	T	-0.991	T	0.043	T	0.123	1.145	9.663	1.56	0.639	0.088	3.531	0.021	0.0048107443556	.	.	.	.	.	.	.	.	.	.	5.17e-05	8	154602	rs1165217004	0.0027	0.0036	0.0028	0.0026	0.0031	0.0026	0.0026	0.0029	0.0029	0.0004	0.0031	0.0005	0	0.0044	0.0010	0.0030	0.0023	0.0004	0.0021	0.0029	0.0020	0.0022	0.0045	0.0019	0.0018	0.0037	0.0034	0.0005	0	0.0045	0.0006	0	0.0038	0	0.0025	0.0052	0.0002	.	.	.	0.14	0.33554	T	.	.	.	.	.	.	0.496902	0.05069	N	1.331580	0.999999	0.08975	N	1.59	0.40313	L	.	.	.	.	.	.	0.103	0.08646	-0.9912	0.32295	T	0.043	0.18326	T	10	0.025805295	0.00764	T	0.004811	0.12035	T	.	.	.	.	0.0611884634855	0.05136	0.12239925407263885	0.12166	.	.	0.776194453239	0.78353	T	0.005727	0.05178	T	-0.24639	0.14545	T	-0.591699	0.13519	T	0.00940495459558463	0.00120	T	0.536546	0.18022	T	0.027816692	0.02027	0.04319381	0.05317	0.027816692	0.02027	0.04319381	0.05317	-5.611	0.42892	T	.	.	0.151	0.33481	B	.	.	1.553386	0.19905	14.50	0.99577941395607461	0.72802	0.01740	0.05491	N	AEFBCI	0.032871	0.03794	N	-0.664091061873501	0.17050	0.8741288	-0.80343147380004	0.14413	0.7529249	0.0826621121700104	0.15906	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.61	1.56	0.22423	0.652000	0.24573	1.567000	0.27393	0.274000	0.18563	0.000000	0.06391	0.002000	0.18203	0.110000	0.18741	0.0:0.5678:0.2676:0.1646	3.531	0.07335	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	104.98	30	chr22	18609742	.	C	T	104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=548;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=33.45;MQRankSum=1.54;QD=2.92;ReadPosRankSum=0.440;SOR=0.954	GT:AD:DP:GQ:PL	0/1:29,7:36:99:119,0,728	20	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R	.	.	0	170	630	722	0	2074	0.859155	.	.	1159081	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.094	N	0.999	P	.	.	-0.92	T	-0.991	T	0.000	T	0.068	-1.216	0.065	2.88	0.250	3.683	6.438	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.6905	64105.31	193	chr22	18925165	.	A	G	64105.31	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.553e+00;DP=3080;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.574;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,173:173:99:.:.:5009,519,0	3	11	7	0
chr22	19199816	19199816	T	C	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon24:c.A3791G:p.Q1264R	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.005	B	0.013	B	0.001	D	0.998	N	0.345	N	2.12	T	-1.042	T	0.026	T	0.111	0.736	7.911	3.85	1.588	2.150	5.693	0.032	0.00222175952306	0.0002	.	9.791e-05	0.0002	0	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs367793842	2.424e-05	2.531e-05	2.336e-05	2.513e-05	0.0003	1.76e-05	1.558e-05	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	2.356e-05	5.013e-05	4.841e-05	3.285e-05	3.283e-05	5.137e-05	1.345e-05	4.409e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0.0005	0	0.089	0.32141	T	0.165	0.31026	T	0.0	0.02946	B	0.001	0.11217	B	0.000970	0.40836	D	0.187714	0.997783	0.22508	N	0.395	0.12235	N	2.12	0.19726	T	-0.18	0.09796	N	0.211	0.24758	-1.0423	0.16621	T	0.026	0.11131	T	10	0.11344987	0.21313	T	0.002222	0.04206	T	0.032	0.07718	.	.	0.300110245524	0.29617	0.15782156336329756	0.15703	.	.	0.308885157108	0.11739	T	0.031146	0.21906	T	-0.370961	0.03545	T	-0.620343	0.11158	T	0.0669005115026013	0.08209	T	0.805019	0.45619	T	0.0387843	0.05234	0.048736688	0.07301	0.0387843	0.05234	0.048736688	0.07300	-3.667	0.29037	T	0.09426400578020667	0.06290	0.064	0.02458	B	.;.;.;.	.;.;.;.	1.426358	0.18436	13.74	0.97623718490452205	0.34977	0.89192	0.49510	D	AEFBI	0.065904	0.12879	N	-0.476707977124177	0.22846	1.22273	-0.355865444804522	0.26328	1.453505	0.979898118320734	0.30076	0.736574	0.97449	0	0.59043	0.45803	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	3.85	3.85	0.43556	2.269000	0.43005	1.374000	0.25980	0.609000	0.47794	0.996000	0.39380	0.038000	0.21505	0.078000	0.17132	0.0:0.0928:0.1703:0.7368	5.693	0.17110	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	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	986.98	35	chr22	19199816	.	T	C	986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.075e+00;DP=790;ExcessHet=0.0000;FS=6.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=2.06;SOR=1.187	GT:AD:DP:GQ:PL	0/1:50,44:94:99:1001,0,1270	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	0/1:42,62:104:99:1622,0,1017	18	0	3	0
chr22	20779749	20779749	A	T	exonic	SERPIND1	.	nonsynonymous SNV	SERPIND1:NM_000185:exon2:c.A437T:p.N146I,	Thrombophilia due to heparin cofactor II deficiency, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	3226514	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.033	B	0.098	B	0.831	N	1.000	N	2.605	M	-2.37	D	-0.195	T	0.650	D	0.171	1.723	11.72	-7.12	-1.378	0.823	11.649	0.364	0.075291750618	.	0.000199681	0.0003	0	8.639e-05	0	0	0.0003	0.0011	0.0007	0.0002199	34	154602	rs202123183	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	0	4.472e-05	0	0	0	0.0016	0.0002	0.0002	0.0007	0.0001	0.0001	0.0001	0.0001	0.0006	8.161e-05	6.718e-05	0.0002	8.992e-05	2.405e-05	0	6.532e-05	0	0	0	0.0068	0.0002	0.0005	0.0006	0.005	0.63226	D	0.051	0.47828	T	0.033	0.20350	B	0.098	0.30479	B	0.831281	0.06943	N	1.070710	1	0.08975	N	2.645	0.77386	M	-2.37	0.88220	D	-4.2	0.75695	D	0.291	0.32921	-0.1947	0.77808	T	0.650	0.87808	D	10	0.118846685	0.22477	T	0.075292	0.72252	D	0.364	0.68407	.	.	0.725326469919	0.72289	0.5559638039926801	0.55523	0.279714035493	0.30458	0.261275947094	0.05043	T	0.73965	0.92778	D	-0.226175	0.17158	T	-0.201867	0.54470	T	0.123033718491691	0.14724	T	0.510849	0.16306	T	0.34378368	0.56579	0.33984292	0.59744	0.34081054	0.56344	0.29802918	0.55836	-6.816	0.52678	T	0.5866665607633216	0.65347	0.167	0.36850	B	.;.	.;.	0.562653	0.09313	6.093	0.92906638319264323	0.22463	0.21794	0.21526	N	AEFBCI	0.815301	0.73731	D	-1.07210388660278	0.07161	0.3318281	-1.23473058753536	0.05361	0.255236	0.999999998555097	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.491513	0.07944	0	0.591603	0.36755	0	.	.	5.59	-7.12	0.01384	0.819000	0.26965	-0.209000	0.10871	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.471000	0.28363	0.5312:0.082:0.3869:0.0	11.649	0.50537	798	0.45050	Serpin domain|Serpin domain|Heparin cofactor II;Serpin domain|Serpin domain|Heparin cofactor II	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2372.98	35	chr22	20779749	.	A	T	2372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=887;ExcessHet=0.0000;FS=1.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-6.170e-01;SOR=0.607	GT:AD:DP:GQ:PL	0/1:96,85:181:99:2387,0,2443	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	0/1:106,32:138:99:1008,0,4355	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	0/1:106,10:116:53:53,0,2799	12	0	9	0
chr22	31140088	31140088	A	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon1:c.T267A:p.H89Q,	.	.	247	1243	27	5	0	37	0.0146651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.011	B	0.003	B	0.542	N	1.000	N	0.805	L	2.91	T	-0.951	T	0.010	T	0.127	-0.441	1.952	-5.44	-0.771	-0.481	7.825	0.024	.	0.0042	0.00519169	0.0065	0.0013	0.0020	0.0027	0.0008	0.0066	0.0066	0.0170	0.0060866	941	154602	rs55984643	0.0067	0.0067	0.0064	0.0070	0.0160	0.0066	0.0065	0.0153	0.0150	0.0010	0.0025	0.0049	0.0024	0.0016	0.0136	0.0067	0.0073	0.0160	0.0040	0.0040	0.0042	0.0038	0.0137	0.0037	0.0036	0.0110	0.0101	0.0008	0	0.0021	0.0052	0.0025	0.0012	0.0034	0.0062	0.0038	0.0137	0.473	0.08408	T	0.528	0.10173	T	0.011	0.15914	B	0.003	0.08700	B	0.542083	0.11525	N	0.811223	0.999997	0.08975	N	1.15	0.29295	L	2.91	0.10008	T	-1.48	0.36189	N	0.1	0.08227	-0.9510	0.40799	T	0.010	0.03856	T	10	0.003170222	0.00053	T	.	.	.	0.024	0.04979	0.256	0.19689	0.0846915920261	0.08053	0.20376811032185027	0.20293	0.0691369018457	0.07735	0.280050009489	0.07499	T	0.024555	0.18532	T	-0.679377	0.00048	T	-0.735029	0.04102	T	0.000639412999052918	0.00006	T	0.285571	0.05082	T	0.048105877	0.08330	0.08347583	0.19133	0.048105877	0.08330	0.08347583	0.19133	-2.368	0.04940	T	.	.	0.083	0.09336	B	.	.	-0.908583	0.00912	0.034	0.48977307495182992	0.04132	0.06914	0.12939	N	AEFDBCI	0.054706	0.09970	N	-1.39168245620973	0.02715	0.1202966	-1.44971714329186	0.02772	0.1281381	0.999999117941641	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	5.69	-5.44	0.02419	-0.398000	0.07320	-1.564000	0.05161	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2343:0.4697:0.2961:0.0	7.825	0.28469	624	0.65661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	732.98	36	chr22	31140088	.	A	T	732.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-02;DP=1001;ExcessHet=0.0000;FS=3.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=-2.460e-01;SOR=0.289	GT:AD:DP:GQ:PL	0/1:28,28:56:99:747,0,769	20	0	1	0
chr22	32419367	32419367	T	C	exonic	BPIFC	.	nonsynonymous SNV	BPIFC:NM_174932:exon12:c.A1255G:p.I419V,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.515	P	0.334	B	0.009	N	1.000	N	2.24	M	3.19	T	-1.050	T	0.029	T	0.314	1.661	11.51	2.61	0.162	0.442	5.192	0.064	0.00264502753675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	1.362e-06	4.126e-06	0.0003	6.4e-07	4.3e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.995e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.21718	T	0.07	0.43721	T	0.454	0.36182	P	0.334	0.42203	B	0.009372	0.30392	N	0.336093	1	0.08975	N	2.825	0.82220	M	3.19	0.07353	T	-0.8	0.22078	N	0.22	0.25989	-1.0495	0.14537	T	0.029	0.12541	T	10	0.14368019	0.27276	T	0.002645	0.05377	T	0.064	0.18567	0.604	0.73586	0.238705975628	0.23479	0.4914839234327179	0.49069	0.0606122278648	0.06739	0.359556913376	0.19320	T	0.001742	0.01167	T	-0.22506	0.17308	T	-0.561059	0.16279	T	0.404847860336304	0.29124	T	0.618838	0.23746	T	0.091196485	0.21363	0.08777312	0.20425	0.091196485	0.21363	0.08777312	0.20424	-4.118	0.25555	T	.	.	0.079	0.09917	B	.;.;.	.;.;.	0.881851	0.12550	9.079	0.97852554256670732	0.36405	0.13506	0.17894	N	AEFBI	0.061003	0.11631	N	-0.334492535983296	0.27845	1.531075	-0.391641344099783	0.25245	1.38716	0.0108999405668081	0.12099	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.87	2.61	0.30255	0.219000	0.17426	0.854000	0.22166	-0.177000	0.10537	0.217000	0.24502	0.007000	0.19602	0.974000	0.55675	0.0:0.0972:0.1795:0.7232	5.192	0.14540	610	0.67008	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;.;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	591.98	35	chr22	32419367	.	T	C	591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.726e+00;DP=732;ExcessHet=0.0000;FS=1.342;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.58;ReadPosRankSum=0.801;SOR=0.446	GT:AD:DP:GQ:PL	0/1:12,26:38:99:606,0,300	20	0	1	0
chr22	33277139	33277139	C	T	exonic	LARGE1	.	nonsynonymous SNV	LARGE1:NM_001378631:exon8:c.G1088A:p.R363H	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, Autosomal recessive	.	0	1509	13	0	0	13	0.00428901	.	.	101071	not_provided|not_specified|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A6|Muscular_dystrophy-dystroglycanopathy_type_B6	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013158,MedGen:C3150414,OMIM:613154,Orphanet:588,Orphanet:899|MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840,Orphanet:98894	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.982	D	0.000	D	1.000	D	1.97	M	1.84	T	-0.786	T	0.176	T	0.453	4.166	21.6	3.42	0.804	2.865	8.968	0.149	.	0.0078	0.00239617	0.0050	0.0012	0.0023	0	0.0021	0.0076	0.0022	0.0028	0.0056144	868	154602	rs1046166	0.0096	0.0096	0.0100	0.0093	0.0117	0.0095	0.0094	0.0116	0.0115	0.0019	0.0029	0.0001	0	0.0020	0.0028	0.0117	0.0063	0.0037	0.0060	0.0060	0.0067	0.0052	0.0099	0.0057	0.0055	0.0093	0.0091	0.0023	0.0647	0.0022	0	0.0002	0.0024	0	0.0099	0.0038	0.0029	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.982	0.75477	D	0.000004	0.62929	D	0.102061	0.999822	0.50806	D	.	.	.	1.84	0.50459	T	-3.43	0.68651	D	0.486	0.55886	-0.7856	0.55984	T	0.176	0.52037	T	10	0.008549035	0.00194	T	.	.	.	0.149	0.39377	.	.	0.479604954264	0.47592	0.7054452157539642	0.70486	1.6004500588	0.88685	0.542836546898	0.44846	T	0.762	0.93567	D	-0.355552	0.04388	T	-0.271179	0.47701	T	0.0229300060964148	0.01015	T	0.959004	0.85901	D	0.41365054	0.61666	0.4395907	0.67306	0.484658	0.66182	0.4395907	0.67307	-10.619	0.77528	D	0.38791358202145454	0.48147	0.112	0.41557	B	.;.;.	.;.;.	4.543299	0.71428	25.7	0.99949648034332861	0.99938	0.85569	0.44715	D	AEFBI	0.427590	0.49147	N	0.427473738169047	0.62938	4.518257	0.381065446135033	0.60397	4.22693	0.996023832251556	0.34476	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.5	3.42	0.38259	2.911000	0.48472	1.062000	0.23729	0.599000	0.40250	1.000000	0.71638	0.988000	0.31051	0.969000	0.54022	0.0:0.7185:0.0:0.2815	8.968	0.35051	869	0.31655	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3211.98	34	chr22	33277139	.	C	T	3211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.286e+00;DP=944;ExcessHet=0.0000;FS=1.498;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.151;SOR=0.806	GT:AD:DP:GQ:PL	0/1:122,136:258:99:3226,0,2940	20	0	1	0
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	0.618	N	1.000	D	.	.	.	.	.	.	.	.	.	3.773	19.16	-2.28	-0.449	-1.035	3.413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	3603.9	128	chr22	36265782	.	G	T	3603.9	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-2.811e+00;DP=3016;ExcessHet=3.5521;FS=129.024;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.90;ReadPosRankSum=0.599;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,38:177:99:.:.:450,0,3764	13	0	8	0
chr22	36316560	36316560	G	C	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon12:c.C1337G:p.S446C,	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.839	P	0.211	B	0.000	D	1.000	D	2.625	M	-2.36	D	0.426	D	0.660	D	0.853	4.564	24.7	5.1	2.538	9.869	18.547	0.692	0.324217944934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	8.688e-05	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.113	0.36901	T	0.839	0.46454	P	0.211	0.37346	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	-2.36	0.88143	D	-4.71	0.79915	D	0.878	0.87590	0.426	0.89483	D	0.660	0.88197	D	10	0.9259001	0.91938	D	0.324218	0.91564	D	0.692	0.88820	0.645	0.78224	0.961098647398	0.96068	0.8395035233604805	0.83910	2.00279492732	0.93841	0.889070630074	0.95144	D	0.822647	0.95680	D	0.384396	0.88989	D	0.314382	0.88851	D	0.996383428573608	0.89236	D	0.944506	0.78979	D	0.92190284	0.93432	0.7688183	0.86348	0.92190284	0.93433	0.7688183	0.86349	-11.156	0.80506	D	0.8877937243935591	0.94347	0.351	0.56631	A	.	.	4.590653	0.72606	25.9	0.99319532239500308	0.59317	0.97062	0.72468	D	AEFBHCI	0.962230	0.98376	D	0.558250758971841	0.70586	5.523309	0.579599439697102	0.73481	5.977167	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.1	5.1	0.68917	10.003000	0.99689	7.593000	0.61311	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:0.0:1.0:0.0	18.547	0.91003	492	0.76569	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	1924.07	73	chr22	36316560	.	G	C	1924.07	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.731e+00;DP=1544;ExcessHet=1.7912;FS=261.121;InbreedingCoeff=-0.1672;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=1.93;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,11:80:99:0|1:36316559_G_C:161,0,2814:36316559	15	0	6	0
chr22	37726466	37726466	C	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C3910A:p.R1304S,	Deafness, autosomal recessive 28, Autosomal recessive	.	12	1503	6	0	1	7	0.00199203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.967	D	.	.	1.000	D	0.805	L	0.28	T	-0.701	T	0.252	T	0.61	4.249	22.1	5.07	2.376	2.523	16.290	0.248	0.0630658994067	.	.	.	.	.	.	.	.	.	.	.	.	.	rs550274094	2.143e-06	5.472e-06	0	4.334e-06	0.0002	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0.0002	0	1.719e-05	1.241e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	6.823e-05	2.855e-05	0	0	0	0	0.0004	0	0	0	0	0	0.0	0.91255	D	0.288	0.21144	T	1.0	0.90584	D	0.967	0.71530	D	.	.	.	.	0.667469	0.33110	D	1.04	0.26193	L	0.28	0.59037	T	-2.85	0.60029	D	0.652	0.66272	-0.7008	0.60400	T	0.252	0.62223	T	9	0.53869605	0.63595	D	0.063066	0.68850	D	0.248	0.55615	.	.	0.739818014902	0.73748	0.30916848207918823	0.30829	0.386630532738	0.39955	0.733280956745	0.71986	T	0.231116	0.59735	T	-0.125418	0.32240	T	-0.202596	0.54400	T	0.66301017999649	0.39028	D	0.738026	0.35555	T	0.506153	0.67455	0.45054185	0.68025	0.506153	0.67456	0.45054185	0.68025	-6.34	0.49039	T	.	.	0.891	0.82188	P	.;.	.;.	3.964497	0.58165	23.9	0.99811766037908878	0.89531	0.84548	0.43631	D	AEFDBI	0.436405	0.49664	N	0.411215872464132	0.62037	4.413393	0.426874021853534	0.63244	4.554486	0.999992995891553	0.74766	0.634777	0.41761	0	0.61073	0.52368	0	0.643519	0.47002	0	0.584449	0.35598	0	.	.	5.07	5.07	0.68106	2.322000	0.43474	3.929000	0.40522	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.0:1.0:0.0:0.0	16.290	0.82575	910	0.22284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	287.98	19	chr22	37726466	.	C	A	287.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.530e-01;DP=565;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=-1.160e-01;SOR=0.976	GT:AD:DP:GQ:PL	0/1:11,13:24:99:302,0,252	20	0	1	0
chr22	40861735	40861735	C	G	exonic	DNAJB7	.	nonsynonymous SNV	DNAJB7:NM_145174:exon1:c.G260C:p.G87A,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.107	B	0.065	B	0.145	N	0.528	N	2.125	M	-0.79	T	-0.486	T	0.203	T	0.164	0.075	4.407	3.69	1.599	-0.034	11.570	0.187	.	.	0.00439297	0.0016	0	8.637e-05	0.0207	0	0	0	0.0010	0.0014683	227	154602	rs141187399	0.0006	0.0006	0.0005	0.0006	0.0164	0.0005	0.0005	0.0154	0.0149	0	4.479e-05	0	0.0164	0	0.0002	8.094e-06	0.0007	0.0015	0.0008	0.0008	0.0007	0.0009	0.0208	0.0007	0.0006	0.0177	0.0165	0	0	6.541e-05	0	0.0208	0	0	1.47e-05	0.0009	0.0017	0.059	0.37536	T	0.077	0.42436	T	0.107	0.26081	B	0.065	0.27321	B	0.145045	0.18158	N	0.477209	0.527657	0.31517	N	2.025	0.55430	M	-0.79	0.73739	T	-3.4	0.67014	D	0.203	0.22486	-0.4857	0.69162	T	0.203	0.55961	T	10	0.0066074133	0.00150	T	.	.	.	0.187	0.46274	.	.	0.930476314975	0.92976	0.4202435528629939	0.41940	0.0180164472936	0.01760	0.249106943607	0.03674	T	0.208156	0.56800	T	-0.453594	0.01075	T	-0.407413	0.32525	T	0.0452882442347557	0.04655	T	0.19528	0.02139	T	0.12542234	0.29403	0.1774933	0.40355	0.12542234	0.29402	0.1774933	0.40354	-7.615	0.58415	D	.	.	0.105	0.19073	B	.	.	1.002031	0.13805	10.36	0.72105323939485821	0.09858	0.27521	0.23301	N	AEFBI	0.095051	0.19209	N	-0.690001154369358	0.16305	0.8295599	-0.708626962299811	0.16745	0.8873194	0.959007647649708	0.28398	0.706298	0.61202	0	0.709663	0.81188	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.7	3.69	0.41483	-0.143000	0.10278	0.224000	0.16109	-0.255000	0.07062	0.000000	0.06391	0.010000	0.20010	0.073000	0.16832	0.0:0.9126:0.0:0.0874	11.570	0.50083	242	0.90534	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1413.98	34	chr22	40861735	.	C	G	1413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.050e-01;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=0.664;SOR=0.634	GT:AD:DP:GQ:PL	0/1:64,58:122:99:1428,0,1627	20	0	1	0
chr22	41436852	41436852	G	T	exonic	TOB2	.	nonsynonymous SNV	TOB2:NM_016272:exon2:c.C494A:p.T165N,	.	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.975	D	0.717	P	0.000	D	1.000	D	1.845	L	0.73	T	-0.747	T	0.232	T	0.313	4.646	25.5	6.07	2.884	7.279	20.644	0.143	0.0144140388169	.	.	2.48e-05	0	0	0	0	4.512e-05	0	0	1.94e-05	3	154602	rs765640014	1.3e-05	1.3e-05	1.633e-05	9.626e-06	0.0003	8.31e-06	6.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.169e-05	1.656e-05	3.478e-05	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.155	0.31936	T	0.975	0.58077	D	0.717	0.54739	P	0.000014	0.62929	D	0.115830	0.99976	0.48888	D	2.135	0.59519	M	0.73	0.50721	T	-1.34	0.33401	N	0.377	0.41853	-0.7471	0.58087	T	0.232	0.59769	T	10	0.26691434	0.44200	T	0.014414	0.34508	T	0.143	0.38195	0.18	0.08751	0.198222871337	0.19423	0.5638141198988336	0.56308	1.03443667668	0.75538	0.604209661484	0.53498	T	0.280127	0.65283	T	-0.185173	0.22969	T	-0.322237	0.42329	T	0.481581926345825	0.31955	T	0.939806	0.77272	D	0.32971075	0.55448	0.35554886	0.61080	0.32971075	0.55448	0.35554886	0.61080	-4.13	0.25730	T	.	.	0.311	0.53868	B	.	.	4.374604	0.67375	25.1	0.99239173583235385	0.56469	0.98053	0.79201	D	AEFBCI	0.885971	0.81695	D	0.757652087427888	0.83404	8.008275	0.798160887866802	0.89665	10.070	0.99999999999999	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	6.831000	0.75116	9.973000	0.82874	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.644	0.99572	180	0.92993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1532.98	41	chr22	41436852	.	G	T	1532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=883;ExcessHet=0.0000;FS=2.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.80;ReadPosRankSum=-1.767e+00;SOR=0.973	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1547,0,1222	20	0	1	0
chr22	46258711	46258711	T	C	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.A4612G:p.T1538A,	.	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.002	B	0.001	B	0.040	N	1.000	N	0	N	1.34	T	-0.994	T	0.044	T	0.036	0.503	6.729	-3.08	-0.640	-0.522	11.060	0.018	.	7.7e-05	0.00898562	0.0047	0	0.0003	0.0001	0	0	0.0022	0.0344	0.004172	645	154602	rs202165704	0.0020	0.0020	0.0011	0.0028	0.0311	0.0019	0.0019	0.0301	0.0297	0.0002	4.472e-05	0	0.0002	0	0.0005	1.169e-05	0.0025	0.0311	0.0012	0.0012	0.0006	0.0018	0.0356	0.0010	0.0010	0.0313	0.0296	0.0001	0	0	0	0	0	0	2.94e-05	0	0.0356	0.485	0.08115	T	0.761	0.04619	T	0.002	0.09854	B	0.001	0.04355	B	0.039910	0.01870	N	2.415630	1	0.08975	N	0	0.06538	N	1.34	0.34841	T	-0.15	0.09297	N	0.016	0.00203	-0.9940	0.31565	T	0.044	0.18906	T	10	0.0016500056	0.00020	T	.	.	.	0.018	0.03083	.	.	0.12205267543	0.11705	0.20266810763099014	0.20183	.	.	0.2238894701	0.01546	T	0.153485	0.49435	T	-0.735343	0.00022	T	-0.804671	0.01788	T	0.0182850710154796	0.00547	T	0.258174	0.04088	T	0.027410258	0.01928	0.036764603	0.03188	0.027410258	0.01928	0.036764603	0.03187	-3.763	0.20253	T	.	.	0.081	0.08176	B	.	.	-0.322818	0.02520	0.299	0.43493681200491102	0.03278	0.10005	0.15628	N	AEFBCI	0.052123	0.09273	N	-1.53503401441963	0.01624	0.07099663	-1.54259828590633	0.02027	0.09265867	0.996991236474864	0.35182	0.549168	0.22868	0	0.59043	0.45803	0	0.577349	0.28860	0	0.616125	0.45549	0	.	.	4.1	-3.08	0.05022	-0.523000	0.06316	0.602000	0.19937	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.395000	0.26670	0.0:0.6484:0.0:0.3516	11.060	0.47162	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1907.98	37	chr22	46258711	.	T	C	1907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=1037;ExcessHet=0.0000;FS=5.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=0.501;SOR=1.146	GT:AD:DP:GQ:PL	0/1:87,75:162:99:1922,0,2190	20	0	1	0
chr22	46297440	46297440	C	G	exonic	GTSE1	.	nonsynonymous SNV	GTSE1:NM_016426:exon2:c.C40G:p.R14G,	.	.	425	1091	6	0	0	6	0.00274223	.	.	758128	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	.	.	.	.	.	.	1.000	N	.	.	3.21	T	-1.013	T	0.024	T	0.056	2.155	13.16	2.48	1.689	2.244	8.571	0.038	.	7.7e-05	0.00778754	0.0042	0	0.0002	0.0001	0	0	0.0022	0.0306	0.0037128	574	154602	rs201036893	0.0017	0.0017	0.0010	0.0025	0.0274	0.0017	0.0017	0.0265	0.0261	0.0002	4.473e-05	0	0.0002	0	0.0005	9.895e-06	0.0022	0.0274	0.0011	0.0011	0.0006	0.0015	0.0321	0.0009	0.0009	0.0280	0.0264	0.0001	0	0	0	0	0	0	2.94e-05	0	0.0321	0.12	0.27904	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	-0.94	0.25118	N	0.142	0.14196	-1.0129	0.26007	T	0.024	0.10103	T	6	0.0024000406	0.00036	T	.	.	.	0.038	0.09825	.	.	0.16115917748	0.15686	0.09620819248204526	0.09552	0.256701344774	0.28238	0.302537381649	0.10780	T	.	.	.	-0.684896	0.00045	T	-0.734952	0.04106	T	0.0830158910860818	0.10368	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07889	B	.	.	1.509852	0.19395	14.24	0.94806902760178513	0.25562	0.05333	0.11187	N	ALL	0.072271	0.14417	N	-0.37242411969415	0.26456	1.443993	-0.523116388508234	0.21526	1.164904	0.999999997581611	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	2.48	2.48	0.29194	1.228000	0.32190	1.067000	0.23771	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.091000	0.17840	0.0:1.0:0.0:0.0	8.571	0.32728	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1555.98	34	chr22	46297440	.	C	G	1555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.520e-01;DP=851;ExcessHet=0.0000;FS=1.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.151;SOR=0.570	GT:AD:DP:GQ:PL	0/1:80,72:152:99:1570,0,1861	20	0	1	0
chr22	46391677	46391677	C	T	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon15:c.G6104A:p.R2035H	.	.	.	.	.	.	.	.	.	.	.	2684831	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.933	P	0.642	P	0.000	U	1.000	D	2.445	M	-0.09	T	-0.218	T	0.345	T	0.686	3.386	17.42	4.43	2.023	3.519	16.657	0.350	0.0441356490929	7.7e-05	0.000199681	3.701e-05	0.0001	0	0	0	3.34e-05	0	6.722e-05	3.23e-05	5	154602	rs372618228	1.716e-05	1.984e-05	1.776e-05	1.656e-05	2.521e-05	1.178e-05	9.96e-06	9.32e-06	7.62e-06	0	2.269e-05	0	2.521e-05	0	0	1.53e-05	8.314e-05	1.166e-05	1.969e-05	1.968e-05	1.284e-05	2.684e-05	0.0002	5.23e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.065	0.36310	T	0.017	0.60337	D	0.382	0.34403	B	0.099	0.30579	B	0.000001	0.62929	U	0.000000	0.999871	0.50225	D	2.56	0.74772	M	-0.09	0.64086	T	-2.91	0.60982	D	0.258	0.29197	-0.2184	0.77193	T	0.345	0.70980	T	10	0.3919683	0.54956	T	0.044136	0.61338	D	0.350	0.67142	.	.	0.595986907406	0.59277	0.3092085007053386	0.30833	0.302320151578	0.32561	0.522757649422	0.42014	T	0.319268	0.69057	T	0.0340371	0.56260	T	-0.0882545	0.64293	T	0.697604894638062	0.40605	D	0.874313	0.58483	D	0.36932275	0.58535	0.26115176	0.51888	0.36932275	0.58535	0.26115176	0.51887	-8.58	0.64957	D	.	.	0.082	0.08851	B	.	.	3.842924	0.55623	23.6	0.99770078584663568	0.85834	0.96027	0.67203	D	AEFDBI	0.611650	0.60002	D	0.310386645436711	0.56680	3.833215	0.317702998336907	0.56581	3.821498	0.999999999996164	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.43	4.43	0.52967	3.677000	0.54354	4.648000	0.44184	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:1.0:0.0:0.0	16.657	0.85087	970	0.06235	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|GPCR, family 2, extracellular hormone receptor domain|Laminin EGF 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	1057.98	33	chr22	46391677	.	C	T	1057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=918;ExcessHet=0.0000;FS=1.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=-1.702e+00;SOR=0.878	GT:AD:DP:GQ:PL	0/1:54,40:94:99:1072,0,1426	20	0	1	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	0|1:39,44,0:83:99:0|1:49922304_C_T:1725,0,1401,1842,1533,3375:49922304	7	1	7	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1933.0	36	chr22	49922325	.	G	C,*	1933.0	.	AC=1,7;AF=0.025,0.175;AN=40;BaseQRankSum=1.19;DP=1482;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3872;MLEAC=1,7;MLEAF=0.025,0.175;MQ=60.00;MQRankSum=0.00;QD=3.70;ReadPosRankSum=1.36;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,53,0:100:99:0|1:49922304_C_T:1946,0,1586,2087,1745,3832:49922304	14	0	1	1
chr22	50217080	50217080	C	T	exonic	SELENOO	.	unknown	UNKNOWN,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.479e-06	0	0	0	0	1.546e-05	0	0	1.29e-05	2	154602	rs760383196	5.066e-05	5.062e-05	4.224e-05	5.917e-05	0.0028	4.129e-05	3.781e-05	0.0017	0.0014	5.974e-05	4.473e-05	0	0	1.912e-05	0.0028	3.867e-05	9.938e-05	4.637e-05	2.625e-05	2.624e-05	1.284e-05	4.027e-05	0.0002	8.13e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2202.98	43	chr22	50217080	.	C	T	2202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.696e+00;DP=1013;ExcessHet=0.0000;FS=0.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=-6.310e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/1:129,99:228:99:2217,0,3232	20	0	1	0
chr22	50454628	50454628	G	T	exonic	SBF1	.	nonsynonymous SNV	SBF1:NM_001365819:exon35:c.C4852A:p.P1618T	Charcot-Marie-Tooth disease, type 4B3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	717549	Tip-toe_gait|Charcot-Marie-Tooth_disease_type_4B3|SBF1-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0014117,MedGen:C3695063,OMIM:615284,Orphanet:363981|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.49	T	0.023	B	0.013	B	0.453	N	0.928	D	0.55	N	-2.04	D	-0.838	T	0.170	T	0.307	0.601	7.239	4.54	2.236	1.543	17.245	0.115	0.0437406740935	0.0017	0.000599042	0.0022	0.0007	0.0002	0	0.0055	0.0032	0	0	0.0020634	319	154602	rs202049257	0.0024	0.0024	0.0025	0.0023	0.0027	0.0023	0.0023	0.0027	0.0026	0.0005	0.0003	0	0	0.0061	0.0004	0.0027	0.0018	1.177e-05	0.0022	0.0022	0.0024	0.0020	0.0037	0.0020	0.0019	0.0033	0.0031	0.0005	0	0.0005	0	0	0.0055	0	0.0037	0.0009	0	0.235	0.18000	T	0.615	0.07568	T	.	.	.	.	.	.	0.453146	0.12482	N	0.763371	0.927782	0.36875	D	.	.	.	-2.04	0.85703	D	-1.11	0.31576	N	0.26	0.30347	-0.8382	0.52766	T	0.170	0.51020	T	10	0.0064341426	0.00146	T	0.043741	0.61141	D	0.251	0.56024	.	.	0.497580052145	0.49393	0.4214633360116159	0.42062	.	.	0.586868405342	0.51052	T	0.095584	0.39651	T	-0.338669	0.05481	T	-0.258297	0.48994	T	0.00907645746739165	0.00114	T	0.917108	0.70302	D	0.06418768	0.13594	0.07245518	0.15633	0.09346137	0.21952	0.06196282	0.12048	-4.702	0.33979	T	0.10922276743256756	0.09094	0.068	0.02927	B	.;.	.;.	2.744067	0.35953	20.1	0.92291183683565703	0.21679	0.55375	0.29848	D	AEFBI	0.326873	0.42801	N	-0.216153502128315	0.32470	1.831566	-0.209377640856524	0.31197	1.763386	0.992952702258691	0.33030	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.54	4.54	0.55220	1.471000	0.34973	7.387000	0.58489	0.672000	0.70159	0.302000	0.25342	1.000000	0.68203	0.044000	0.14658	0.0:0.0:1.0:0.0	17.245	0.86911	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	904.98	33	chr22	50454628	.	G	T	904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.285e+00;DP=790;ExcessHet=0.0000;FS=0.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=-5.380e-01;SOR=0.546	GT:AD:DP:GQ:PL	0/1:48,42:90:99:919,0,1201	20	0	1	0
chr22	50521592	50521592	C	G	exonic	NCAPH2	.	nonsynonymous SNV	NCAPH2:NM_001185011:exon11:c.C983G:p.S328C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.997	D	0.923	D	0.016	N	1.000	N	2.075	M	.	.	-0.980	T	0.179	T	0.233	3.001	16.01	2.81	2.339	3.251	6.716	0.098	0.00931762138245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.023	0.57104	D	0.995	0.67487	D	0.923	0.65830	D	0.015583	0.28205	N	0.340811	1	0.08975	N	2.56	0.74772	M	.	.	.	-2.73	0.58085	D	0.387	0.43029	-0.9798	0.35048	T	0.179	0.52504	T	9	0.21148857	0.37578	T	0.009318	0.24459	T	0.098	0.28162	0.503	0.59615	0.143184338766	0.13958	0.18066746165930556	0.17985	0.436506209224	0.43739	0.394043803215	0.24237	T	0.519204	0.83154	D	-0.0615836	0.42659	T	-0.326237	0.41887	T	0.9396812915802	0.61135	D	0.868313	0.57032	D	0.18095781	0.39242	0.15429825	0.36219	0.18095781	0.39242	0.15429825	0.36218	-7.15	0.55121	T	.	.	0.090	0.25978	B	.;.;.	.;.;.	4.985831	0.82625	27.8	0.9881136355506035	0.46623	0.52886	0.29239	D	AEFBCI	0.250378	0.37044	N	0.474468878140522	0.65603	4.843416	0.409804835214453	0.62173	4.428596	0.999915866268289	0.45857	0.719381	0.83141	0	0.702456	0.74545	0	0.723109	0.80598	0	0.733575	0.97253	0	.	.	5.01	2.81	0.31971	3.446000	0.52692	2.932000	0.35621	0.549000	0.26987	0.684000	0.28476	0.275000	0.24072	0.916000	0.45140	0.367:0.4747:0.1583:0.0	6.716	0.22492	628	0.65206	Condensin-2 complex subunit H2, C-terminal;Condensin-2 complex subunit H2, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1337.98	39	chr22	50521592	.	C	G	1337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.267;DP=778;ExcessHet=0.0000;FS=5.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-1.120e+00;SOR=0.869	GT:AD:DP:GQ:PL	0/1:40,51:91:99:1352,0,1016	20	0	1	0
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:227,53,0,0:280:99:.:.:773,0,5630,1453,5789,7242,1453,5789,7242,7242	0	8	6	4
chrX	7843976	7843976	-	AGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.581_582insAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT:p.S195Gfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0.0002	0	0	0	0	0	0	.	.	.	.	3.738e-06	8.672e-06	5.615e-06	0	6.53e-05	6.2e-07	2.3e-07	.	.	0	6.53e-05	0	0	0	0	2.552e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:227,53,0,0:280:99:.:.:773,0,5630,1453,5789,7242,1453,5789,7242,7242	0	8	6	4
chrX	26194489	26194489	T	C	exonic	MAGEB6	.	nonsynonymous SNV	MAGEB6:NM_173523:exon2:c.T643C:p.S215P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.000	N	1.000	N	-2.245	N	3.87	T	-0.927	T	0.002	T	0.095	-1.825	0.009	1.29	0.204	0.031	4.462	0.041	0.012177943643	.	.	4.57e-05	0	0	0	0	6.261e-05	0	0.0001	3.23e-05	5	154602	rs761115892	2.914e-05	2.914e-05	2.859e-05	3.026e-05	3.311e-05	2.108e-05	1.804e-05	1.71e-05	1.46e-05	0	0	0	3.311e-05	2.467e-05	0	2.612e-05	0.0002	1.847e-05	8.982e-06	8.731e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000188	0.48115	N	0.140599	1	0.08975	N	-1.66	0.00382	N	3.87	0.03597	T	4.84	0.00027	N	0.02	0.00308	-0.9268	0.44602	T	0.002	0.00676	T	10	0.021300733	0.00507	T	0.012178	0.30521	T	0.041	0.10877	0.471	0.54537	0.280181792013	0.27631	0.1773923929301382	0.17658	0.022355780132	0.02249	0.478645414114	0.35870	T	0.012851	0.11224	T	-0.667005	0.00057	T	-1.04559	0.00071	T	0.0321573415523542	0.02331	T	0.0760924	0.00560	T	0.058922958	0.11914	0.09069301	0.21282	0.058922958	0.11914	0.09069301	0.21281	-1.013	0.01014	T	.	.	0.044	0.00040	B	.	.	-0.463377	0.01987	0.174	0.088441991798566155	0.00078	0.00019	0.00214	N	AEFI	.	.	.	.	.	.	.	.	.	1.33575917438624E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1	1.29	0.20717	-0.365000	0.07626	-4.363000	0.02196	-0.213000	0.08312	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.0:0.6554:0.0:0.3446	4.462	0.11090	690	0.58899	MAGE homology domain|MAGE 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	1	0	0	0	0.04762	4541.08	38	chrX	26194489	.	T	C	4541.08	.	AC=2;AF=0.048;AN=42;DP=1278;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.32;SOR=0.919	GT:AD:DP:GQ:PL	1/1:0,145:145:99:4569,435,0	20	1	0	0
chrX	27462930	27462930	C	A	exonic	PPP4R3C	.	stopgain	PPP4R3C:NM_207319:exon1:c.G367T:p.E123X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.706160	0.93143	33	0.47978293668109429	0.03966	0.98124	0.79803	D	AEFDI	.	.	.	.	.	.	.	.	.	0.379229754163445	0.19945	.	.	.	.	.	.	.	.	.	.	.	.	0.639608	0.41554	4.68	3.82	0.43153	5.957000	0.70042	1.013000	0.23346	0.599000	0.40250	1.000000	0.71638	0.057000	0.21958	0.013000	0.09966	0.0:0.8965:0.0:0.1035	9.763	0.39713	637	0.64373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	38.63	58	chrX	27462930	.	C	A	38.63	.	AC=2;AF=0.100;AN=20;DP=58;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3415;MLEAC=2;MLEAF=0.100;MQ=60.00;QD=19.32;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	9	1	0	11
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	1/1:0,26,0,0,0,0,0:26:79:1085,79,0,1085,79,1085,1085,79,1085,1085,1085,79,1085,1085,1085,1085,79,1085,1085,1085,1085,1085,79,1085,1085,1085,1085,1085	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	1/1:0,26,0,0,0,0,0:26:79:1085,79,0,1085,79,1085,1085,79,1085,1085,1085,79,1085,1085,1085,1085,79,1085,1085,1085,1085,1085,79,1085,1085,1085,1085,1085	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	1/1:0,26,0,0,0,0,0:26:79:1085,79,0,1085,79,1085,1085,79,1085,1085,1085,79,1085,1085,1085,1085,79,1085,1085,1085,1085,1085,79,1085,1085,1085,1085,1085	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	1/1:0,26,0,0,0,0,0:26:79:1085,79,0,1085,79,1085,1085,79,1085,1085,1085,79,1085,1085,1085,1085,79,1085,1085,1085,1085,1085,79,1085,1085,1085,1085,1085	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	1/1:0,26,0,0,0,0,0:26:79:1085,79,0,1085,79,1085,1085,79,1085,1085,1085,79,1085,1085,1085,1085,79,1085,1085,1085,1085,1085,79,1085,1085,1085,1085,1085	7	4	1	0
chrX	44232585	44232585	C	T	exonic	EFHC2	.	nonsynonymous SNV	EFHC2:NM_025184:exon10:c.G1516A:p.E506K,	.	.	429	1051	29	13	0	55	0.0254984	.	.	1308138	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.63	T	0.913	P	0.268	B	0.000	D	1.000	D	0.915	L	-0.26	T	-0.860	T	0.193	T	0.397	1.569	11.20	4.97	2.472	1.621	16.094	0.038	0.226834300826	0.0032	0.00238411	0.0067	0.0008	0.0063	0	0.0033	0.0090	0	0.0091	0.0034605	535	154602	rs192827775	0.0045	0.0045	0.0045	0.0047	0.0283	0.0044	0.0044	0.0241	0.0225	0.0003	0.0020	0.0111	0	0.0026	0.0283	0.0045	0.0057	0.0072	0.0033	0.0034	0.0033	0.0033	0.0048	0.0030	0.0029	0.0043	0.0041	0.0005	0	0.0021	0.0109	0	0.0041	0.0320	0.0048	0.0039	0.0038	.	.	.	0.521	0.10429	T	0.913	0.50474	P	0.268	0.39801	B	0.000002	0.62929	D	0.059791	0.988983	0.40865	D	1.35	0.33515	L	.	.	.	.	.	.	0.122	0.11340	-0.8600	0.51263	T	0.193	0.54652	T	10	0.0077182353	0.00175	T	0.226834	0.88062	D	0.160	0.41473	.	.	0.362933182269	0.35899	0.7264299174291527	0.72586	0.153508229755	0.17316	0.373277664185	0.21302	T	0.011418	0.10189	T	-0.390963	0.02652	T	-0.329942	0.41474	T	0.0149901700767413	0.00322	T	0.90421	0.66396	D	0.33576554	0.55940	0.31499657	0.57488	0.33576554	0.55940	0.31499657	0.57487	-6.213	0.48028	T	.	.	0.174	0.38172	B	.	.	1.705199	0.21718	15.32	0.99643287406419756	0.76819	0.81980	0.41281	D	AEFI	.	.	.	.	.	.	.	.	.	0.999897227663305	0.45129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.85	4.97	0.65419	1.678000	0.37202	1.868000	0.29368	0.599000	0.40250	0.957000	0.33433	0.998000	0.33993	0.251000	0.23288	0.0:0.8041:0.1959:0.0	16.094	0.80919	900	0.24599	Domain of unknown function DUF1126|Uncharacterised domain DM10|Uncharacterised domain DM10	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4689.66	166	chrX	44232585	.	C	T	4689.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.627;DP=928;ExcessHet=0.0000;FS=0.955;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=17.18;ReadPosRankSum=0.560;SOR=0.721	GT:AD:DP:GQ:PL	1/1:0,107:107:99:3220,321,0	19	1	1	0
chrX	55146088	55146088	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C347A:p.T116K	.	.	389	931	201	1	0	203	0.0983051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.753	P	0.139	B	.	.	1.000	N	0.55	N	0.55	T	-1.038	T	0.075	T	0.138	0.884	8.588	1.6	1.084	1.636	6.091	0.065	0.0145806555527	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs908148278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.753	0.43334	P	0.139	0.33484	B	.	.	.	.	1	0.08975	N	.	.	.	0.55	0.54728	T	-4.2	0.75695	D	0.166	0.24883	-1.0379	0.17954	T	0.075	0.30272	T	9	0.13617307	0.25909	T	0.014581	0.34790	T	0.065	0.18881	0.383	0.40134	0.0297737177859	0.01360	0.5893565244531019	0.58865	0.102169319623	0.11567	.	.	.	.	.	.	-0.300639	0.08600	T	-0.669624	0.07632	T	0.278895500268211	0.24125	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	-3.286	0.14829	T	.	.	0.403	0.59716	A	.;.;.	.;.;.	2.694763	0.35184	19.83	0.76654625307924973	0.11555	0.30125	0.24001	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.922000	0.39675	-0.587000	0.08344	0.596000	0.33519	0.989000	0.36753	0.000000	0.08366	0.084000	0.17470	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	0.04762	1542.46	537	chrX	55146088	.	G	T	1542.46	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.180e-01;DP=11450;ExcessHet=0.1072;FS=0.827;InbreedingCoeff=-0.0587;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-3.310e-01;SOR=0.816	GT:AD:DP:GQ:PL	0/1:556,68:624:99:284,0,17041	19	0	2	0
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	1/1:58,577:635:99:19193,160,0	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	0/1:438,216:654:99:4609,0,11149	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	0/1:435,202:637:99:4363,0,11405	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	0/1:371,159:530:99:3560,0,10676	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	0/1:71,387:458:99:12277,0,681	0	1	20	0
chrX	55146214	55146214	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C221T:p.P74L	.	.	380	1100	41	1	0	43	0.0191708	.	.	2333934	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	0.945	P	0.967	D	0.873	N	1.000	N	0.55	N	1.07	T	-1.000	T	0.112	T	0.102	0.659	7.533	-0.4	-0.233	0.318	1.897	0.035	0.00876998388438	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866839768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.13789	T	0.12	0.67890	T	0.945	0.53279	P	0.851	0.71530	P	0.873191	0.07189	N	1.077440	1	0.08975	N	1.04	0.26193	L	1.07	0.39586	T	-0.45	0.14782	N	0.139	0.13769	-0.9995	0.30058	T	0.112	0.40029	T	10	0.054038584	0.05690	T	0.00877	0.23147	T	0.035	0.08770	0.339	0.32979	0.0920862733494	0.08535	0.15662812420360386	0.15583	0.455486312176	0.45221	0.226637601852	0.01728	T	0.01433	0.12223	T	-0.410012	0.01987	T	-0.826731	0.01321	T	0.0581960721379313	0.06881	T	0.710329	0.32115	T	0.04068161	0.05853	0.05239224	0.08621	0.04068161	0.05853	0.05239224	0.08621	-2.044	0.03351	T	.	.	0.102	0.18122	B	.;.;.;.;.	.;.;.;.;.	0.045960	0.04608	1.277	0.77836609989061178	0.12043	0.01031	0.03865	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999987030541589	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.4	0.11793	0.840000	0.27253	-1.999000	0.04367	0.596000	0.33519	0.027000	0.20232	0.000000	0.08366	0.112000	0.18829	0.2252:0.0:0.4531:0.3218	1.897	0.03062	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1072.99	399	chrX	55146214	.	G	A	1072.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.07;DP=9399;ExcessHet=0.0000;FS=7.631;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.34;ReadPosRankSum=-1.912e+00;SOR=1.371	GT:AD:DP:GQ:PL	0/1:387,72:459:99:1087,0,12136	20	0	1	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|1:271,85:356:99:0|1:55146247_G_C:2638,0,10949:55146247	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|1:269,81,0:350:99:0|1:55146247_G_C:2531,0,10901,3340,11145,14485:55146247	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	0/1:144,191:335:99:5100,0,4443	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|1:260,77:337:99:0|1:55146247_G_C:2451,0,10679:55146247	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|1:260,77,0:337:99:0|1:55146247_G_C:2451,0,10679,3233,10911,14144:55146247	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|1:260,77,0:337:99:0|1:55146247_G_C:2451,0,10679,3233,10911,14144:55146247	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	0/1:56,191:247:99:5549,0,1000	0	1	20	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	3/3:0,0,0,5,0,0,0:5:15:178,178,178,178,178,178,15,15,15,0,178,178,178,15,178,178,178,178,15,178,178,178,178,178,15,178,178,178	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	3/3:0,0,0,5,0,0,0:5:15:178,178,178,178,178,178,15,15,15,0,178,178,178,15,178,178,178,178,15,178,178,178,178,178,15,178,178,178	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	3/3:0,0,0,5,0,0,0:5:15:178,178,178,178,178,178,15,15,15,0,178,178,178,15,178,178,178,178,15,178,178,178,178,178,15,178,178,178	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	3/3:0,0,0,5,0,0,0:5:15:178,178,178,178,178,178,15,15,15,0,178,178,178,15,178,178,178,178,15,178,178,178,178,178,15,178,178,178	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	3/3:0,0,0,5,0,0,0:5:15:178,178,178,178,178,178,15,15,15,0,178,178,178,15,178,178,178,178,15,178,178,178,178,178,15,178,178,178	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	1/1:0,16,0,0,0,0,0:16:48:.:.:619,48,0,619,48,620,619,48,620,620,619,48,620,620,620,619,48,620,620,620,620,619,48,620,620,620,620,620	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	1/1:0,16,0,0,0,0,0:16:48:.:.:619,48,0,619,48,620,619,48,620,620,619,48,620,620,620,619,48,620,620,620,620,619,48,620,620,620,620,620	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	1/1:0,16,0,0,0,0,0:16:48:.:.:619,48,0,619,48,620,619,48,620,620,619,48,620,620,620,619,48,620,620,620,620,619,48,620,620,620,620,620	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	1/1:0,16,0,0,0,0,0:16:48:.:.:619,48,0,619,48,620,619,48,620,620,619,48,620,620,620,619,48,620,620,620,620,619,48,620,620,620,620,620	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	1/1:0,16,0,0,0,0,0:16:48:.:.:619,48,0,619,48,620,619,48,620,620,619,48,620,620,620,619,48,620,620,620,620,619,48,620,620,620,620,620	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	1/1:0,16,0,0,0,0,0:16:48:.:.:619,48,0,619,48,620,619,48,620,620,619,48,620,620,620,619,48,620,620,620,620,619,48,620,620,620,620,620	11	3	1	0
chrX	69505338	69505338	-	CTG	exonic	FAM155B	.	nonframeshift insertion	FAM155B:NM_015686:exon1:c.56_57insCTG:p.C24_W25insC,	.	.	412	1026	81	1	2	85	0.0388759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1287.01	86	chrX	69505335	.	TCTG	T,TCTGCTG	1287.01	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=8.000e-03;DP=1050;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.1975;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=2.52;ReadPosRankSum=-1.560e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/1:51,5,0:56:33:33,0,2118,187,2133,2320	14	0	6	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	.	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.0	B	0.264	N	0.950	D	1.545	L	3.03	T	-1.071	T	0.025	T	0.431	0.577	7.117	4.55	1.072	2.664	13.469	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	280.42	34	chrX	74591813	.	G	A	280.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-2.189e+00;DP=1340;ExcessHet=1.1607;FS=0.872;InbreedingCoeff=-0.1196;MLEAC=3;MLEAF=0.071;MQ=58.73;MQRankSum=-7.437e+00;QD=0.60;ReadPosRankSum=-3.262e+00;SOR=0.852	GT:AD:DP:GQ:PL	0/1:64,7:71:2:2,0,2170	16	0	5	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	.	9	1217	293	0	3	296	0.107444	.	.	706313	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.22	T	0.842	P	0.1	B	0.514	U	1.000	N	0	N	-1.96	D	-0.795	T	0.216	T	0.391	-2.619	0	0.088	0.675	0.068	3.724	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.3095	5960.15	34	chrX	74591904	.	A	G	5960.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.726e+00;DP=3755;ExcessHet=11.8493;FS=3.151;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=58.85;MQRankSum=-1.351e+01;QD=1.72;ReadPosRankSum=3.78;SOR=0.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,19:198:99:0|1:74591902_T_A:259,0,7418:74591902	8	0	13	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	0/1:75,16:91:60:60,0,1485	13	0	7	1
chrX	91835616	91835616	G	T	exonic	PCDH11X	.	nonsynonymous SNV	PCDH11X:NM_001168360:exon1:c.G112T:p.V38F	.	.	433	1084	4	1	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.11	M	1.64	T	-0.751	T	0.177	T	0.764	3.952	20.2	3.93	1.935	5.816	14.473	0.356	0.112066605475	.	.	6.845e-05	0	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs752539325	8.104e-05	8.104e-05	7.895e-05	8.526e-05	0.0007	6.692e-05	6.217e-05	0.0002	0.0001	0	5.684e-05	0.0002	0	2.467e-05	0.0007	8.669e-05	0.0001	1.847e-05	2.712e-05	3.484e-05	2.572e-05	3.042e-05	0.0004	7.21e-06	3e-06	.	.	0	0	0	0.0004	0	0	0	1.89e-05	0	0.0004	0.011	0.56456	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.99998	0.54805	D	1.465	0.36909	L	1.64	0.27822	T	-3.09	0.63901	D	0.711	0.75374	-0.7513	0.57867	T	0.177	0.52131	T	10	0.6776366	0.71087	D	0.112067	0.79008	D	0.356	0.67691	0.448	0.50793	0.743348397409	0.74104	0.9391187386239206	0.93892	2.62205694876	0.98273	0.698957324028	0.66994	T	0.131452	0.46095	T	-0.1441	0.29240	T	-0.170466	0.57400	T	0.341553746903787	0.26685	T	0.950405	0.81010	D	0.67736775	0.76827	0.5236375	0.72478	0.67736775	0.76829	0.5236375	0.72479	-7.638	0.58875	D	.	.	0.183	0.39765	B	.;.;.;.;.;.	.;.;.;.;.;.	3.362172	0.46425	22.3	0.99541905764375094	0.70586	0.96640	0.70161	D	AEFGI	.	.	.	.	.	.	.	.	.	0.979235289672574	0.30006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.93	3.93	0.44666	6.166000	0.71739	6.141000	0.54053	0.509000	0.23192	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	14.473	0.67104	974	0.05496	.;Cadherin, 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	6808.08	34	chrX	91835616	.	G	T	6808.08	.	AC=2;AF=0.048;AN=42;DP=899;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.96;QD=33.05;SOR=0.753	GT:AD:DP:GQ:PL	1/1:0,206:206:99:6836,618,0	20	1	0	0
chrX	106869505	106869505	A	T	exonic	TBC1D8B	.	stopgain	TBC1D8B:NM_017752:exon19:c.A2833T:p.K945X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	.	.	.	.	.	.	1.000	A	.	.	0.45	T	-1.025	T	0.047	T	.	5.217	33	4.59	1.903	1.423	7.886	0.066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284937	0.14876	N	0.635593	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.079	0.05414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366207	0.87718	D	0.288255	0.87560	D	0.778249050167191	0.44941	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.239318	0.96303	35	0.98290743903168665	0.39945	0.38204	0.25935	N	AEFI	.	.	.	.	.	.	.	.	.	0.762507926143458	0.23534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7	4.59	0.56297	1.443000	0.34668	6.015000	0.52706	0.756000	0.94297	0.914000	0.31788	1.000000	0.68203	0.963000	0.52385	0.7156:0.2844:0.0:0.0	7.886	0.28814	288	0.88579	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1075.08	33	chrX	106869505	.	A	T	1075.08	.	AC=2;AF=0.048;AN=42;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.29;SOR=0.798	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1103,114,0	20	1	0	0
chrX	119590450	119590450	G	A	exonic	NKRF	.	unknown	UNKNOWN,	.	.	441	1059	13	9	0	31	0.0144253	.	.	743121	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0013245	0.0027	0.0001	0.0001	0.0003	0.0007	0.0028	0.0047	0.0090	0.0024773	383	154602	rs2233498	0.0016	0.0016	0.0014	0.0021	0.0097	0.0015	0.0015	0.0087	0.0085	0.0001	0.0003	0.0003	3.312e-05	0.0005	0.0097	0.0013	0.0018	0.0094	0.0010	0.0010	0.0009	0.0012	0.0068	0.0008	0.0008	0.0044	0.0036	0.0002	0	0.0003	0.0004	0.0003	0.0002	0.0091	0.0015	0.0007	0.0068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.04762	2045.08	34	chrX	119590450	.	G	A	2045.08	.	AC=2;AF=0.048;AN=42;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.99;SOR=0.976	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2073,186,0	20	1	0	0
chrX	130012975	130012975	G	A	exonic	BCORL1	.	nonsynonymous SNV	BCORL1:NM_001379450:exon4:c.G203A:p.G68D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.725	P	0.003	N	0.584	N	0.55	N	0.84	T	-0.708	T	0.151	T	0.56	2.325	13.73	5.28	2.203	4.834	11.602	0.155	0.0336169119355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.821e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.064	0.44905	T	.	.	.	.	.	.	0.002832	0.35868	N	0.000000	0.584084	0.31075	N	.	.	.	0.48	0.55945	T	-0.38	0.13418	N	0.86	0.87699	-0.7081	0.60046	T	0.151	0.47979	T	10	0.6378375	0.68884	D	0.033617	0.55108	D	0.155	0.40530	0.16	0.06396	0.658802289784	0.65594	0.26988670266984277	0.26901	0.543992118055	0.51468	0.670438170433	0.62901	T	.	.	.	-0.0775579	0.40111	T	-0.349183	0.39300	T	0.576655541672815	0.35490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.55535	B	.;.	.;.	3.443450	0.47919	22.5	0.99431376210323652	0.64276	0.91846	0.54389	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.998006456015337	0.36301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	5.28	0.74118	4.654000	0.61164	9.860000	0.82050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0837:0.0:0.9163:0.0	11.602	0.50265	428	0.80967	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1788.08	36	chrX	130012975	.	G	A	1788.08	.	AC=2;AF=0.048;AN=42;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.31;SOR=0.865	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1816,183,0	20	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.741	P	0.621	P	0.000	D	0.998	D	2.095	M	1.12	T	-0.845	T	0.185	T	0.728	2.907	15.69	4.88	2.356	4.577	16.741	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	903.93	74	chrX	135580144	.	G	C	903.93	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.040e+00;DP=1536;ExcessHet=20.9642;FS=227.873;InbreedingCoeff=-0.6099;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.503;SOR=12.634	GT:AD:DP:GQ:PL	0/1:28,18:51:50:50,0,341	5	0	16	0
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7105	95143.29	325	chrX	141906385	.	C	G,*	95143.29	.	AC=25,3;AF=0.658,0.079;AN=38;BaseQRankSum=1.37;DP=4666;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6889;MLEAC=27,3;MLEAF=0.711,0.079;MQ=57.01;MQRankSum=-5.940e-01;QD=25.67;ReadPosRankSum=0.391;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,174,0:177:99:.:.:5207,479,0,5215,521,5256	4	11	2	2
chrX	143628736	143628736	C	G	exonic	SLITRK4	.	nonsynonymous SNV	SLITRK4:NM_001184749:exon2:c.G2373C:p.K791N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.457	P	0.177	B	0.000	U	1.000	D	1.355	L	0.52	T	-0.898	T	0.147	T	0.487	2.025	12.73	5.39	2.234	2.016	16.602	0.111	0.397435481738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.107e-07	9.105e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.17e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.083	0.41405	T	0.457	0.36287	P	0.177	0.35687	B	0.000000	0.84330	U	0.000000	0.999983	0.54805	D	0.895	0.22405	L	0.52	0.55266	T	-1.54	0.37375	N	0.571	0.59393	-0.8979	0.48205	T	0.147	0.47273	T	10	0.50593966	0.61818	D	0.397435	0.93323	D	0.111	0.31313	0.322	0.30226	0.420544483464	0.41669	0.4237341382815121	0.42290	.	.	0.712317109108	0.68930	T	0.064523	0.32457	T	-0.112877	0.34293	T	-0.399916	0.33395	T	0.720364272594452	0.41718	D	0.849315	0.53201	T	0.6638654	0.76105	0.49604106	0.70857	0.6638654	0.76106	0.49604106	0.70857	-4.008	0.23923	T	.	.	0.806	0.77998	P	.;.;.	.;.;.	2.148533	0.27367	17.44	0.99605941636052009	0.74516	0.92437	0.55710	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997243156327411	0.35414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.39	5.39	0.77615	3.246000	0.51115	4.046000	0.41467	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	16.602	0.84672	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	0	0	0	0	0.04762	2742.08	35	chrX	143628736	.	C	G	2742.08	.	AC=2;AF=0.048;AN=42;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.26;SOR=0.922	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2770,255,0	20	1	0	0
chrY	9467432	9467432	C	G	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.C432G:p.H144Q	.	.	1129	390	2	1	0	4	0.00510204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.996	D	.	.	.	.	2.07	M	1.75	T	-1.069	T	0.073	T	0.268	0.948	8.866	.	-0.000	0.271	.	0.073	0.978378320157	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs772185599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0003	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.013	0.63109	D	0.999	0.77913	D	0.996	0.84481	D	.	.	.	.	.	.	.	2.345	0.67358	M	1.75	0.26152	T	-5.99	0.89401	D	0.225	0.25253	-1.0690	0.09634	T	0.073	0.29515	T	5	0.10270485	0.18840	T	0.978378	0.99882	D	0.073	0.21317	.	.	0.193865811164	0.18958	0.12784609756287668	0.12709	.	.	.	.	.	0.10629	0.41750	T	-0.277042	0.10984	T	-0.635728	0.09984	T	0.880145311355591	0.53014	D	0.480552	0.15143	T	0.5745436	0.71310	0.40950003	0.65237	0.5745436	0.71311	0.40950003	0.65237	-6.135	0.47395	T	.	.	0.639	0.70690	P	.;.	.;.	1.268877	0.16672	12.69	0.83918520770427629	0.14993	0.04546	0.10183	N	AEF	.	.	.	.	.	.	.	.	.	1.09506468559346E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.187000	0.31699	.	.	0.200000	0.17917	0.934000	0.32416	0.000000	0.08366	0.022000	0.11911	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	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	0.3333	141.2	61	chrY	9467432	.	C	G	141.2	.	AC=4;AF=0.333;AN=12;DP=61;ExcessHet=0.0000;FS=0.000;MLEAC=6;MLEAF=0.500;MQ=26.77;QD=28.24;SOR=3.611	GT:AD:DP:GQ:PL	1/1:0,3:3:9:93,9,0	4	2	0	15
chrY	9468575	9468575	C	T	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon4:c.C739T:p.R247C	.	.	1112	376	34	0	0	34	0.043257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.986	D	.	.	.	.	2.265	M	1.41	T	-1.026	T	0.095	T	0.136	0.836	8.372	.	-0.000	-0.409	.	0.077	0.942448804252	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453465763	0	3.698e-05	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.148	0.47581	T	1.0	0.90584	D	0.986	0.76916	D	.	.	.	.	.	.	.	2.19	0.61577	M	1.41	0.33412	T	-2.46	0.53736	N	0.091	0.06990	-1.0255	0.21919	T	0.095	0.35924	T	5	0.3254106	0.49852	T	0.942449	0.99595	D	0.077	0.22490	.	.	0.0954503805726	0.09146	0.1224262590712214	0.12169	.	.	.	.	.	0.061559	0.31686	T	-0.594515	0.00157	T	-0.799608	0.01912	T	0.297556161880493	0.24903	T	0.954405	0.82627	D	0.1592242	0.35779	0.26193547	0.51978	0.1592242	0.35779	0.26193547	0.51977	-4.639	0.33968	T	.	.	0.217	0.45359	B	.;.	.;.	2.000986	0.25425	16.76	0.99244968679632095	0.56662	0.00250	0.01379	N	AEF	.	.	.	.	.	.	.	.	.	1.14592207977015E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.248000	0.08872	.	.	0.200000	0.17917	0.007000	0.17678	0.000000	0.08366	0.017000	0.10941	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	53.92	309	chrY	9468575	.	C	T	53.92	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.59;DP=309;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.143;MQ=20.22;MQRankSum=0.212;QD=1.15;ReadPosRankSum=1.05;SOR=0.409	GT:AD:DP:GQ:PL	0/1:39,8:47:59:59,0,817	6	0	1	14