Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES955	WT	HH	HZ	NC
chr1	972082	972082	T	C	exonic	PLEKHN1	.	nonsynonymous SNV	PLEKHN1:NM_001160184:exon9:c.T833C:p.L278P,PLEKHN1:NM_001367552:exon9:c.T833C:p.L278P,PLEKHN1:NM_032129:exon9:c.T797C:p.L266P	.	397	1123	2	0	0	2	0.00088968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	0.193170079071	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185507018	2.944e-05	3.01e-05	3.543e-05	2.34e-05	0.0003	2.218e-05	1.972e-05	6.092e-05	2.521e-05	2.988e-05	0	0	0	0	0.0003	3.238e-05	4.971e-05	1.16e-05	6.575e-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	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	1	0.81001	D	2.945	0.84822	M	0.6	0.53731	T	-4.74	0.87835	D	0.836	0.87917	-0.4021	0.71960	T	0.315	0.68460	T	10	0.8689939	0.86156	D	0.19317	0.86288	D	0.544	0.81018	0.702	0.83869	0.697555083171	0.69494	0.9122648633735735	0.91200	0.0585938424744	0.06498	0.628105044365	0.56875	T	.	.	.	0.250516	0.78650	D	0.122072	0.78373	D	0.995378971099854	0.87309	D	0.833717	0.51077	T	0.95052886	0.96319	0.8507157	0.91552	0.95052886	0.96319	0.8507157	0.91552	-14.407	0.94717	D	.	.	0.983	0.93180	P	.;.;.	.;.;.	4.263034	0.64797	24.8	0.99851321802264614	0.93102	0.89935	0.50732	D	AEFDBI	0.498741	0.53272	N	0.373074762032816	0.59967	4.18082	0.27001054144152	0.53796	3.546881	0.685343978622461	0.22526	0.676563	0.55306	0	0.588066	0.40923	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.68	4.68	0.58319	0.399000	0.20641	.	.	0.607000	0.46521	0.015000	0.19116	1.000000	0.68203	0.123000	0.19290	0.0:0.0:0.0:1.0	10.533	0.44178	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	525.33	33	chr1	972082	.	T	C	525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.305;DP=675;ExcessHet=0;FS=1.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-1.17;SOR=0.905	GT:AD:DP:GQ:PL	0/1:26,22:48:99:539,0,759	18	0	1	0
chr1	1197725	1197725	G	A	exonic	TTLL10	.	nonsynonymous SNV	TTLL10:NM_001130045:exon16:c.G1900A:p.D634N,TTLL10:NM_001371649:exon16:c.G1900A:p.D634N	.	408	1113	1	0	0	1	0.000449035	.	.	.	2400405	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00622953184831	.	.	0.0003	0.0051	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs764678592	3.044e-05	3.557e-05	2.146e-05	3.966e-05	0.0014	2.279e-05	2.021e-05	0.0006	0.0004	3.309e-05	0	0	2.889e-05	0	0.0014	2.048e-05	0.0001	7.648e-05	5.265e-05	5.254e-05	5.145e-05	5.39e-05	7.359e-05	2.561e-05	1.833e-05	2.849e-05	1.86e-05	2.417e-05	0	0	0	0	0	0	7.359e-05	0.0010	0	0.769	0.03392	T	0.484	0.11760	T	0.13	0.27095	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.39	0.05710	T	0.22	0.04694	N	0.113	0.14763	-0.9368	0.43118	T	0.007	0.02598	T	9	0.006691724	0.00152	T	0.00623	0.16347	T	0.028	0.06331	.	.	0.0551355673512	0.04727	0.14277221885489827	0.14200	0.0310260877546	0.03212	0.755211651325	0.75217	T	0.005817	0.05268	T	-0.460168	0.00981	T	-0.898776	0.00511	T	0.0243485809430732	0.01189	T	0.516848	0.16688	T	0.019781964	0.00516	0.032798953	0.02071	0.019781964	0.00516	0.032798953	0.02071	-3.811	0.20969	T	.	.	0.085	0.10352	B	.;.	.;.	-0.249951	0.02846	0.399	0.78563695114821119	0.12355	0.00317	0.01669	N	AEFBI	0.020212	0.00775	N	-1.70289546789426	0.00832	0.03595954	-1.83024537578739	0.00667	0.02967556	0.921463793476817	0.26673	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	2.6	-5.19	0.02616	-2.565000	0.00993	-0.951000	0.06813	-1.000000	0.01814	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3257:0.2839:0.2477:0.1427	0.934	0.01257	779	0.47767	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	329.33	34	chr1	1197725	.	G	A	329.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=634;ExcessHet=0;FS=2.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.32;ReadPosRankSum=-0.221;SOR=0.853	GT:AD:DP:GQ:PL	0/1:31,14:45:99:343,0,785	18	0	1	0
chr1	1478563	1478563	G	A	exonic	ATAD3B	.	nonsynonymous SNV	ATAD3B:NM_001317238:exon1:c.G64A:p.G22R	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0.0030	0	0	0	0.0005	7.76e-05	12	154602	rs774308351	0.0002	0.0002	0.0002	0.0002	0.0031	0.0002	0.0001	0.0026	0.0025	3.162e-05	0.0001	0	0.0031	2.033e-05	0.0004	5.286e-05	0.0004	0.0005	0.0001	0.0001	0.0002	9.44e-05	0.0023	9.766e-05	8.277e-05	0.0013	0.0010	0	0	0	0	0.0023	0	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1344.33	33	chr1	1478563	.	G	A	1344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.06;DP=719;ExcessHet=0;FS=7.228;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.41;MQRankSum=0.342;QD=15.28;ReadPosRankSum=0.849;SOR=1.44	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1358,0,887	18	0	1	0
chr1	3728188	3728188	C	G	exonic	TP73	.	nonsynonymous SNV	TP73:NM_001126240:exon7:c.C898G:p.H300D,TP73:NM_001126241:exon7:c.C898G:p.H300D,TP73:NM_001126242:exon7:c.C898G:p.H300D,TP73:NM_001204189:exon7:c.C898G:p.H300D,TP73:NM_001204190:exon7:c.C898G:p.H300D,TP73:NM_001204191:exon7:c.C898G:p.H300D,TP73:NM_001204192:exon7:c.C832G:p.H278D,TP73:NM_001204184:exon9:c.C1045G:p.H349D,TP73:NM_001204185:exon9:c.C1045G:p.H349D,TP73:NM_001204186:exon9:c.C1045G:p.H349D,TP73:NM_001204187:exon9:c.C1045G:p.H349D,TP73:NM_001204188:exon9:c.C1045G:p.H349D,TP73:NM_005427:exon9:c.C1045G:p.H349D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.313393187962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.10980	T	0.629	0.07791	T	0.923	0.51194	P	0.673	0.53214	P	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	2.045	0.56016	M	-3.03	0.92307	D	-1.14	0.29323	N	0.669	0.67736	0.267	0.87029	D	0.724	0.90557	D	10	0.6382464	0.68906	D	0.313393	0.91255	D	0.524	0.79825	0.414	0.45216	0.648601781325	0.64568	0.4348686531126821	0.43403	0.55462161771	0.52196	0.803658783436	0.82521	D	0.608042	0.87537	D	0.128046	0.67171	D	-0.0538475	0.66758	D	0.620310604572296	0.37219	D	0.817118	0.48487	T	0.22920337	0.45654	0.19374867	0.42960	0.22920337	0.45654	0.19374867	0.42959	-11.318	0.82194	D	.	.	0.296	0.59148	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.854709	0.55867	23.7	0.98055506979041918	0.37905	0.95085	0.63382	D	AEFDBHCI	0.614845	0.60201	D	-0.0193186112583279	0.40981	2.443257	-0.0268330909107324	0.38508	2.269676	0.996680819174906	0.34926	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.69	3.75	0.42236	4.251000	0.58568	4.728000	0.44539	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.454000	0.27984	0.0:0.8438:0.1562:0.0	13.686	0.61996	821	0.40814	p53, tetramerisation domain;.;.;.;.;.;.;.;p53, tetramerisation 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	.	.	.	.	.	.	.	.	0.02632	2705.33	203	chr1	3728188	.	C	G	2705.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.132;DP=1040;ExcessHet=0;FS=2.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.206;SOR=0.914	GT:AD:DP:GQ:PL	0/1:120,110:230:99:2719,0,3147	18	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3438	775.38	34	chr1	7933282	.	T	C	775.38	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-1.376;DP=684;ExcessHet=9.6465;FS=107.214;InbreedingCoeff=-0.4822;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.717;SOR=9.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,12:53:24:.:.:24,0,808:.	5	0	11	3
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	12694.9	247	chr1	10326244	.	G	C	12694.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.862;DP=3403;ExcessHet=11.1788;FS=253.081;InbreedingCoeff=-0.4616;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=1.26;SOR=13.474	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,81:232:99:0|1:10326244_G_C:1733,0,5284:10326244	7	0	12	0
chr1	11059918	11059918	G	C	exonic	SRM	.	nonsynonymous SNV	SRM:NM_003132:exon1:c.C26G:p.A9G	.	435	1079	7	1	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.570774644216	.	.	0.0029	0	0	0	0	0.0070	0	0.0007	0.0003493	54	154602	rs771883659	0.0007	0.0007	0.0007	0.0007	0.0007	0.0006	0.0006	0.0005	0.0005	0	0.0004	0.0277	0	3.639e-05	0	0.0001	0.0024	0.0007	0.0008	0.0008	0.0009	0.0007	0.0008	0.0007	0.0006	0.0003	0.0002	2.427e-05	0	0	0.0273	0.0002	0	0.0034	0.0003	0.0005	0.0008	0.361	0.11882	T	0.211	0.26631	T	0.001	0.07471	B	0.0	0.01387	B	0.295964	0.14683	U	0.549745	1	0.08975	N	0.09	0.08384	N	-0.66	0.72348	T	-0.32	0.12283	N	0.216	0.24135	-1.0227	0.22834	T	0.104	0.38316	T	10	0.0053771436	0.00118	T	0.570775	0.96118	D	0.111	0.31313	0.148	0.05138	0.385882932397	0.38197	0.38256071449414875	0.38171	1.05964391427	0.76440	0.840971112251	0.88242	D	0.092927	0.39106	T	-0.149072	0.28458	T	-0.451908	0.27487	T	0.0109667043835689	0.00158	T	0.668433	0.27736	T	0.07706847	0.17469	0.058053963	0.10660	0.07706847	0.17469	0.058053963	0.10660	-3.255	0.13164	T	.	.	0.090	0.12702	B	.	.	1.464516	0.18873	13.97	0.72158324578202127	0.09876	0.00906	0.03544	N	AEFDGBHCI	0.023152	0.01251	N	-1.2379937409317	0.04460	0.2013432	-1.23890495374957	0.05297	0.2520629	0.999999999485191	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	2.57	1.42	0.21524	0.133000	0.15736	1.604000	0.27599	-0.455000	0.05132	0.000000	0.06391	0.118000	0.22871	0.002000	0.04165	0.1992:0.0:0.8008:0.0	5.229	0.14734	680	0.59965	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002809	0.000000	0.000000	0.003876	0.050000	0.000000	0.003472	0.008065	0.02632	215.48	2	chr1	11059918	.	G	C	215.48	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.702;DP=240;ExcessHet=0;FS=0;InbreedingCoeff=-0.0361;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.302;SOR=0.301	GT:AD:DP:GQ:PL	0/1:9,9:18:99:229,0,281	18	0	1	0
chr1	12363180	12363180	G	A	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_018156:exon51:c.G10306A:p.V3436I,VPS13D:NM_015378:exon52:c.G10381A:p.V3461I	.	434	1086	2	0	0	2	0.000919963	.	.	.	1931040	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00424919119436	.	0.00139776	0.0004	0	0.0002	0	0	2.997e-05	0.0055	0.0024	0.0003622	56	154602	rs535010889	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	2.987e-05	0	0	0	0	0.0005	9.892e-06	0.0003	0.0027	0.0002	0.0002	7.709e-05	0.0002	0.0044	0.0001	9.234e-05	0.0029	0.0025	2.406e-05	0	6.534e-05	0	0	0	0	1.47e-05	0	0.0044	.	.	.	0.189	0.28860	T	0.03	0.20002	B	0.015	0.17295	B	0.078755	0.21025	N	0.551716	0.992996	0.23790	N	0.895	0.22405	L	.	.	.	.	.	.	0.229	0.25745	-1.0840	0.06591	T	0.047	0.20037	T	10	0.0063723624	0.00144	T	0.004249	0.10278	T	.	.	.	.	0.043077524339	0.03247	0.1618884665741051	0.16109	.	.	0.423670649529	0.28342	T	0.098376	0.40213	T	-0.542774	0.00322	T	-0.557671	0.16595	T	0.0198916656737895	0.00690	T	0.819918	0.47811	T	0.015818689	0.00159	0.026552517	0.00751	0.015818689	0.00159	0.026552517	0.00751	-2.58	0.06352	T	0.2136695256181633	0.28695	0.069	0.03128	B	.;.	.;.	1.759436	0.22383	15.60	0.93623820283465697	0.23493	0.79581	0.39462	D	AEFBI	0.066238	0.12960	N	-0.542716436094394	0.20713	1.093917	-0.40216717585535	0.24933	1.368219	0.784747783436277	0.23909	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	2.17	0.26736	1.149000	0.31238	1.540000	0.27221	-0.119000	0.14319	0.867000	0.30739	0.910000	0.28117	0.888000	0.42677	0.2571:0.0:0.5168:0.2262	4.798	0.12649	165	0.93588	Vacuolar protein sorting-associated protein 13, SHR-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1938.33	34	chr1	12363180	.	G	A	1938.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=812;ExcessHet=0;FS=2.739;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=1.65;SOR=0.742	GT:AD:DP:GQ:PL	0/1:82,81:163:99:1952,0,1874	18	0	1	0
chr1	12883267	12883267	A	G	exonic	PRAMEF4	.	nonsynonymous SNV	PRAMEF4:NM_001009611:exon2:c.T128C:p.M43T	.	.	.	.	.	.	.	.	.	.	.	2805755	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.078	.	0.0048	0.00299521	0.0097	0.0012	0.0012	0	0.0507	0.0118	0.0179	0.0002	0.0076713	1186	154602	rs146128733	0.0074	0.0074	0.0076	0.0072	0.0069	0.0073	0.0072	0.0067	0.0067	0.0014	0.0009	0.0076	0	0.0460	0	0.0069	0.0060	0.0004	0.0077	0.0077	0.0065	0.0089	0.0075	0.0073	0.0072	0.0070	0.0068	0.0014	0.0055	0.0015	0.0073	0	0.0495	0	0.0075	0.0055	0.0002	0.102	0.30235	T	0.228	0.25286	T	0.016	0.17332	B	0.006	0.12133	B	0.963002	0.07730	N	1.016890	1	0.08975	N	1.68	0.43186	L	3.4	0.05642	T	-3.8	0.71762	D	0.248	0.28028	-0.9095	0.46916	T	0.011	0.03903	T	10	0.0037043393	0.00068	T	.	.	.	0.078	0.22779	.	.	0.0138822411134	0.00435	0.16617032186185046	0.16537	0.0178854614484	0.01750	0.739723563194	0.72932	T	0.022985	0.17626	T	-0.21032	0.19334	T	-0.539886	0.18308	T	0.00155098745962767	0.00016	T	.	.	.	0.047090832	0.07991	0.10585728	0.25455	0.047090832	0.07991	0.10585728	0.25454	-5.685	0.43560	T	.	.	0.212	0.44015	B	.	.	0.494162	0.08635	5.403	0.43299864030858803	0.03250	0.00415	0.02058	N	AEFI	0.024512	0.01528	N	-1.09721910115188	0.06694	0.3088886	-1.20313404250485	0.05860	0.2803861	1.09881635656348E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	0.16	0.14261	0.033000	0.13642	-8.227000	0.01006	0.511000	0.23309	0.007000	0.17678	0.000000	0.08366	0.027000	0.12703	0.6022:0.0:0.0:0.3978	3.337	0.06687	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001596	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.007692	0.02632	2249.33	37	chr1	12883267	.	A	G	2249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.834;DP=1128;ExcessHet=0;FS=1.122;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.65;MQRankSum=-0.743;QD=11.96;ReadPosRankSum=-1.205;SOR=0.784	GT:AD:DP:GQ:PL	0/1:96,92:188:99:2263,0,2530	18	0	1	0
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T,CASP9:NM_001278054:exon2:c.G283A:p.A95T,CASP9:NM_032996:exon2:c.G34A:p.A12T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05263	283.43	44	chr1	15518245	.	C	T	283.43	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.318;DP=1293;ExcessHet=0.119;FS=146.654;InbreedingCoeff=-0.0687;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=0.683;SOR=9.608	GT:AD:DP:GQ:PL	0/1:109,31:140:99:263,0,2828	17	0	2	0
chr1	15559540	15559540	G	C	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon7:c.G102C:p.K34N,DNAJC16:NM_015291:exon8:c.G1038C:p.K346N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0328347890655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0033	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.11e-05	2.242e-05	0.0002	0.0002	0.0002	0	0.0003	0.0002	6.995e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.40832	T	0.002	0.83351	D	0.998	0.73220	D	0.852	0.60758	P	0.000001	0.84330	D	0.092863	0.978976	0.25213	N	2.62	0.76659	M	2.29	0.17113	T	-1.14	0.29323	N	0.808	0.81658	-1.0776	0.07821	T	0.076	0.30492	T	10	0.615474	0.67681	D	0.032835	0.54554	D	0.109	0.30843	0.288	0.24761	0.361160317528	0.35726	0.7971393182230749	0.79666	0.675634459511	0.59719	0.593763709068	0.52025	T	0.024746	0.32281	T	-0.129001	0.31658	T	-0.423077	0.30724	T	0.763135969638824	0.44033	D	0.957038	0.84692	D	0.17311552	0.38042	0.10023495	0.23959	0.17311552	0.38041	0.10023495	0.23958	-3.109	0.43915	T	.	.	0.535	0.66159	A	.;.;.;.	.;.;.;.	4.221675	0.63864	24.6	0.99651966654979685	0.77380	0.89772	0.50455	D	AEFDGBCI	0.332943	0.43219	N	0.165367727067141	0.49541	3.153414	0.114872783977894	0.45307	2.796318	0.999975053923645	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.95	4.1	0.47196	2.185000	0.42215	3.965000	0.40779	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.2241:0.0:0.7759:0.0	9.034	0.35440	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1471	301.37	169	chr1	15559540	.	G	C	301.37	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-4.195;DP=1968;ExcessHet=1.3;FS=220.707;InbreedingCoeff=-0.1892;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=1.25;SOR=11.019	GT:AD:DP:GQ:PL	0/1:119,40:159:38:38,0,2442	12	0	5	2
chr1	15567824	15567824	G	A	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon14:c.G1060A:p.E354K,DNAJC16:NM_015291:exon15:c.G1996A:p.E666K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0387014411736	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1292125461	1.915e-05	1.915e-05	1.497e-05	2.338e-05	2.428e-05	1.328e-05	1.144e-05	1.663e-05	1.425e-05	0	0	0	0	0	0	2.428e-05	1.656e-05	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.091	0.31834	T	0.078	0.50514	T	0.728	0.42542	P	0.196	0.36635	B	0.000000	0.84330	D	0.044027	1	0.81001	D	1.24	0.30952	L	-0.57	0.71307	T	-1.7	0.40468	N	0.536	0.57860	-0.4175	0.71472	T	0.299	0.67045	T	10	0.49270177	0.61086	T	0.038701	0.58377	D	0.189	0.46613	0.407	0.44066	0.819043193617	0.81733	0.4568602928278277	0.45604	0.393845896875	0.40552	0.74187040329	0.73249	T	0.091248	0.38756	T	0.0180917	0.54123	T	-0.211789	0.53524	T	0.776132225990295	0.44811	D	0.937306	0.76632	D	0.39800397	0.60594	0.31813204	0.57784	0.39800397	0.60595	0.31813204	0.57783	-4.762	0.34145	T	.	.	0.488	0.64034	A	.;.	.;.	3.598405	0.50813	23.0	0.99753434833192467	0.84460	0.96737	0.70669	D	AEFBCI	0.714842	0.66719	D	0.453898313299991	0.64426	4.696711	0.551738673411231	0.71516	5.667089	0.999737535784796	0.42341	0.566229	0.32551	0	0.653731	0.59785	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.89	5.89	0.94758	5.016000	0.63806	11.913000	0.99630	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.812	0.92027	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1825.33	34	chr1	15567824	.	G	A	1825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.517;DP=758;ExcessHet=0;FS=2.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.225;SOR=0.987	GT:AD:DP:GQ:PL	0/1:59,70:129:99:1839,0,1542	18	0	1	0
chr1	15928400	15928400	G	C	exonic	SPEN	.	nonsynonymous SNV	SPEN:NM_015001:exon11:c.G2160C:p.R720S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0155571381374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.009	0.66756	D	0.999	0.77913	D	0.994	0.82059	D	.	.	.	.	0.999929	0.51308	D	2.135	0.59519	M	2.81	0.10975	T	-0.76	0.21215	N	0.555	0.58031	-1.0807	0.07214	T	0.037	0.15813	T	9	0.40737203	0.55986	T	0.015557	0.36360	T	0.143	0.38195	0.267	0.21418	0.332276917938	0.32835	0.6588047463688055	0.65817	0.9082949663	0.70941	0.737208008766	0.72562	T	0.218104	0.58073	T	-0.0800544	0.39705	T	-0.352769	0.38889	T	0.776460054183397	0.44831	D	0.909209	0.67884	D	0.17343657	0.38092	0.1952637	0.43194	0.17343657	0.38091	0.1952637	0.43193	-3.967	0.23308	T	.	.	0.856	0.80112	P	.	.	3.556431	0.50018	22.9	0.98532878557464154	0.42620	0.90844	0.52368	D	AEFGBCI	0.382983	0.46466	N	0.108119008798999	0.46841	2.918415	0.0717777386353398	0.43136	2.62167	0.0113089504048363	0.12164	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.84	1.92	0.24912	1.485000	0.35127	2.565000	0.33334	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.4124:0.0:0.5876:0.0	8.386	0.31662	419	0.81524	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	147.33	34	chr1	15928400	.	G	C	147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-8.291;DP=1293;ExcessHet=0;FS=195.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.24;ReadPosRankSum=4.23;SOR=10.035	GT:AD:DP:GQ:PL	0/1:462,150:612:99:161,0,8993	18	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4737	51491.3	662	chr1	16563946	.	C	T	51491.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.392;DP=11359;ExcessHet=38.2876;FS=1.376;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.03;MQRankSum=-9.117;QD=4.97;ReadPosRankSum=0.26;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:572,116:688:99:0|1:16563782_C_A:1670,0,17240:16563782	1	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4737	58952.3	662	chr1	16563989	.	G	C	58952.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.668;DP=14939;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.58;MQRankSum=-4.89;QD=4.25;ReadPosRankSum=-0.231;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:787,120:907:99:0|1:16563782_C_A:912,0,23019:16563782	1	0	18	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	93987.4	684	chr1	16564144	.	C	T	93987.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.71;DP=11427;ExcessHet=48.2876;FS=0.565;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.33;MQRankSum=-18.63;QD=8.46;ReadPosRankSum=0.533;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:468,249:717:99:.:.:5911,0,14646:.	0	0	19	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	96026.4	662	chr1	16564149	.	C	T	96026.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.096;DP=10999;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.16;MQRankSum=6.94;QD=8.93;ReadPosRankSum=-0.939;SOR=0.695	GT:AD:DP:GQ:PL	0/1:548,145:693:99:2735,0,18401	0	0	19	0
chr1	16564186	16564186	C	G	exonic	NBPF1	.	unknown	UNKNOWN	.	373	1100	49	0	0	49	0.0217875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0087	0.0025	0.0043	0	0.0106	0.0127	0.01	0.0034	0.0072444	1120	154602	rs200760413	0	2.379e-05	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.37509	.	.	.	.	.	.	.	0.007929355	0.00180	T	.	.	.	.	.	.	.	0.0884992946249	0.08302	0.07312084663879208	0.07249	.	.	0.449560642242	0.31884	T	.	.	.	-0.456395	0.01035	T	-0.535872	0.18705	T	.	.	.	0.973753	0.92190	D	.	.	.	.	.	.	.	.	-6.486	0.50178	T	.	.	0.619	0.69641	P	.;.	.;.	1.785020	0.22693	15.72	0.44714069370902609	0.03458	0.00541	0.02492	N	AEFBCI	0.039570	0.05765	N	.	.	.	.	.	.	2.85478778828593E-4	0.06355	0.071217	0.01513	1	0.046471	0.00084	3	0.066767	0.01867	0	0.123	0.03924	1	.	.	0.566	-1.13	0.09274	-0.422000	0.07110	-7.525000	0.01138	0.312000	0.19173	0.005000	0.17040	0.000000	0.08366	0.015000	0.10482	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.036976	0.054945	0.042120	0.024793	0.000000	0.025862	0.026846	0.015873	0.07895	3394.79	120	chr1	16564186	.	C	G	3394.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.41;DP=4142;ExcessHet=0.3672;FS=1.765;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=51.95;MQRankSum=3.73;QD=2.98;ReadPosRankSum=2.19;SOR=0.845	GT:AD:DP:GQ:PL	0/1:401,44:445:99:214,0,13876	16	0	3	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.3158	4689.72	124	chr1	16577387	.	T	C	4689.72	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.98;DP=6175;ExcessHet=11.1788;FS=5.824;InbreedingCoeff=-0.4482;MLEAC=12;MLEAF=0.316;MQ=43.71;MQRankSum=-4.317;QD=1.07;ReadPosRankSum=-1.392;SOR=1.273	GT:AD:DP:GQ:PL	0/1:309,29:338:5:5,0,8526	7	0	12	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3947	6040.85	31	chr1	16579293	.	A	G	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=1.77;DP=1318;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.18;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.129;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,11:46:99:0|1:16579293_A_G:357,0,1437:16579293	4	0	15	0
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3947	6040.85	31	chr1	16579294	.	T	C	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-5.638;DP=1314;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.15;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.044;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,11:46:99:0|1:16579293_A_G:357,0,1437:16579293	4	0	15	0
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.3421	3927.26	26	chr1	16579305	.	G	A	3927.26	.	AC=13;AF=0.342;AN=38;BaseQRankSum=3.46;DP=1255;ExcessHet=13.8672;FS=130.665;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.342;MQ=36.03;MQRankSum=0.61;QD=4.49;ReadPosRankSum=-0.348;SOR=6.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,5:40:99:0|1:16579305_G_A:105,0,1452:16579305	6	0	13	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.2895	1867.3	26	chr1	16579308	.	G	C	1867.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.811;DP=1250;ExcessHet=8.9063;FS=99.423;InbreedingCoeff=-0.4082;MLEAC=11;MLEAF=0.289;MQ=35.97;MQRankSum=0.588;QD=2.62;ReadPosRankSum=-0.44;SOR=7.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,5:41:99:0|1:16579305_G_A:102,0,1481:16579305	8	0	11	0
chr1	16585634	16585634	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0007	0.0005	0	0.0001	0.0009	0.0010	0	6.112e-05	0.0001921	5	26028	rs562050811	0.0002	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	2.24e-05	0	0	0.0003	0	0.0003	0.0002	0	0.0002	0.0007	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0001	0	6.533e-05	0	0	0.0003	0	0.0004	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001185	0.000000	0.001370	0.004386	0.000000	0.000000	0.000000	0.000000	0.02632	308.33	88	chr1	16585634	.	G	A	308.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.94;DP=1986;ExcessHet=0;FS=1.046;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.82;MQRankSum=3.37;QD=1.18;ReadPosRankSum=-1.167;SOR=0.463	GT:AD:DP:GQ:PL	0/1:234,28:262:99:322,0,6950	18	0	1	0
chr1	16591991	16591991	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	383	1060	79	0	0	79	0.0359254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0129792	0.0297	0.0079	0.0171	0.0005	0.0368	0.0429	0.0268	0.0118	0.0239389	3701	154602	rs199564458	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	2.238e-05	3.831e-05	0	0	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.003590405	0.00065	T	.	.	.	.	.	.	.	.	.	0.05074882340970097	0.05016	.	.	0.617227673531	0.55337	T	.	.	.	-0.342333	0.05228	T	-0.729514	0.04349	T	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-7.512	0.57695	D	.	.	0.081	0.08465	B	.;.	.;.	-0.110497	0.03581	0.696	0.68576904222900414	0.08701	0.00301	0.01603	N	AEFDBHCIJ	0.037390	0.05136	N	.	.	.	.	.	.	0.99999989870109	0.74766	0.205481	0.04072	1	0.188433	0.04229	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-1.13	0.09274	-3.599000	0.00468	-6.832000	0.01295	-4.637000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.044824	0.040816	0.053134	0.066116	0.050000	0.051724	0.040625	0.027344	0.1316	8656.37	608	chr1	16591991	.	C	T	8656.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.82;DP=8027;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=56.13;MQRankSum=-1.205;QD=2.61;ReadPosRankSum=-1.032;SOR=0.694	GT:AD:DP:GQ:PL	0/1:652,109:761:99:972,0,17264	14	0	5	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	10174.8	362	chr1	16757526	.	C	G	10174.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.788;DP=7182;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=40.73;MQRankSum=-1.674;QD=3.1;ReadPosRankSum=0.131;SOR=0.642	GT:AD:DP:GQ:PL	0/1:368,87:455:99:1391,0,10143	10	0	9	0
chr1	16759377	16759377	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon8:c.T949C:p.W317R	.	399	1097	25	1	0	27	0.0121567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	.	.	0.0065	0.0094	0.0043	0.0021	0.0065	0.0062	0.0037	0.0104	0.000461	12	26028	rs1806514	0.0001	0.0022	9.6e-05	0.0001	0.0004	9.186e-05	8.712e-05	0.0002	0.0002	0.0004	6.771e-05	7.747e-05	0.0002	7.612e-05	0.0002	9.597e-05	0.0002	8.16e-05	0.0007	0.0055	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0010	0.0012	0.0009	0	0	0.0006	0	0.0005	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	634.83	144	chr1	16759377	.	A	G	634.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.66;DP=3034;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=49.38;MQRankSum=-6.601;QD=2.05;ReadPosRankSum=-1.176;SOR=0.64	GT:AD:DP:GQ:PL	0/1:140,25:165:99:324,0,4038	17	0	2	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	11605.2	33	chr1	16759590	.	G	GC	11605.2	.	AC=25;AF=0.658;AN=38;BaseQRankSum=4.81;DP=1524;ExcessHet=5.6906;FS=11.534;InbreedingCoeff=-0.2845;MLEAC=25;MLEAF=0.658;MQ=44.88;MQRankSum=-2.822;QD=9.07;ReadPosRankSum=-3.116;SOR=0.816	GT:AD:DP:GQ:PL	0/1:69,25:94:99:598,0,2175	1	7	11	0
chr1	16760442	16760442	G	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.C387A:p.N129K	.	382	1064	76	0	0	76	0.0344828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	.	.	.	0.0106	0.0089	0.0060	0	0.0183	0.0138	0.0126	0.0040	3.84e-05	1	26028	rs772310681	0.0016	0.0086	0.0017	0.0015	0.0027	0.0015	0.0015	0.0017	0.0017	0.0004	0.0002	0.0007	0	0.0028	0.0027	0.0018	0.0011	0.0005	0.0009	0.0060	0.0009	0.0009	0.0012	0.0008	0.0007	0.0010	0.0009	0.0003	0	0.0008	0.0009	0	0.0017	0	0.0012	0.0020	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	2398.79	158	chr1	16760442	.	G	T	2398.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.524;DP=3653;ExcessHet=0.3672;FS=2.875;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=42.76;MQRankSum=-0.462;QD=3.56;ReadPosRankSum=-0.505;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,31:332:99:0|1:16760442_G_T:362,0,12390:16760442	16	0	3	0
chr1	16760445	16760446	AC	-	exonic	MST1L	.	frameshift deletion	MST1L:NM_001271733:exon4:c.383_384del:p.R128Qfs*3	.	382	1066	74	0	0	74	0.0335449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107	0.0089	0.0060	0	0.0183	0.0139	0.0127	0.0041	0.001191	31	26028	rs748266310	0.0014	0.0085	0.0015	0.0013	0.0023	0.0013	0.0013	0.0015	0.0015	0.0003	0.0002	0.0007	0	0.0027	0.0023	0.0016	0.0010	0.0005	0.0008	0.0060	0.0008	0.0009	0.0011	0.0007	0.0007	0.0009	0.0008	0.0003	0	0.0009	0.0009	0	0.0015	0	0.0011	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2353.75	158	chr1	16760444	.	TAC	T	2353.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.742;DP=3685;ExcessHet=0.3672;FS=5.613;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=43.11;MQRankSum=-0.727;QD=3.42;ReadPosRankSum=-0.201;SOR=1.23	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:305,31:336:99:0|1:16760442_G_T:350,0,12498:16760442	16	0	3	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	6194.53	158	chr1	16760446	.	C	T	6194.53	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.09;DP=4206;ExcessHet=6.9875;FS=15.967;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=44.64;MQRankSum=-0.667;QD=2.69;ReadPosRankSum=0.492;SOR=1.882	GT:AD:DP:GQ:PL	0/1:219,78:328:99:1657,0,5938	9	0	10	0
chr1	16760848	16760848	G	C	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon3:c.C241G:p.H81D	.	321	1179	22	0	0	22	0.0092437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	.	0.0022	0.0031	0.0012	0	0.0029	0.0027	0.0011	0.0013	0.0023609	365	154602	rs186420363	6.955e-05	0.0005	6.712e-05	7.2e-05	0.0007	5.818e-05	5.427e-05	0.0005	0.0004	0.0007	2.291e-05	0	0	1.894e-05	0	4.791e-05	5.004e-05	0.0002	0.0002	0.0014	0.0002	0.0002	0.0006	0.0002	0.0001	0.0004	0.0004	0.0006	0	6.575e-05	0.0006	0	0.0002	0	2.955e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3896.79	315	chr1	16760848	.	G	C	3896.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.661;DP=9024;ExcessHet=0.3672;FS=3.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.61;MQRankSum=-10.22;QD=2.48;ReadPosRankSum=0.785;SOR=1.108	GT:AD:DP:GQ:PL	0/1:545,61:606:99:224,0,16892	16	0	3	0
chr1	21978396	21978396	G	A	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.G71A:p.R24H	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.0371692555097	7.7e-05	.	0.0002	9.612e-05	0	0	0.0008	0.0003	0	6.069e-05	0.000207	32	154602	rs141038744	0.0016	0.0024	0.0015	0.0017	0.0022	0.0016	0.0016	0.0019	0.0018	0.0004	0.0009	0.0011	0.0004	0.0034	0.0016	0.0016	0.0018	0.0022	0.0036	0.0049	0.0037	0.0034	0.0059	0.0033	0.0032	0.0054	0.0052	0.0008	0	0.0016	0.0023	0.0006	0.0044	0	0.0059	0.0033	0.0035	0.358	0.11994	T	0.229	0.25210	T	0.0	0.02946	B	0.0	0.01387	B	0.007306	0.01163	N	2.529540	1	0.08975	N	1.255	0.31814	L	-2.41	0.88533	D	0.6	0.02518	N	0.154	0.15888	-0.6321	0.63481	T	0.420	0.76556	T	10	0.039126813	0.02379	T	0.037169	0.57449	D	0.319	0.64112	.	.	0.0954503805726	0.09146	0.4556730093205391	0.45485	0.205366021206	0.22955	0.253240227699	0.04116	T	0.00303	0.02432	T	-0.0689393	0.41495	T	-0.336803	0.40707	T	0.0574381133510097	0.06760	T	0.0687931	0.00503	T	0.018113418	0.00333	0.022597525	0.00281	0.018113418	0.00333	0.022597525	0.00281	-5.191	0.38850	T	.	.	0.101	0.17615	B	.	.	0.472177	0.08418	5.173	0.87910613318515318	0.17573	0.00578	0.02610	N	AEFBI	0.085482	0.17329	N	-1.81953427079195	0.00499	0.02148352	-1.92661621036719	0.00433	0.01917433	0.994071141636979	0.33476	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	-10.2	0.00305	-0.243000	0.08933	-1.140000	0.06212	-0.942000	0.02081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1653:0.2878:0.5469:0.0	12.317	0.54285	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	417.33	41	chr1	21978396	.	G	A	417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.37;DP=826;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.71;MQRankSum=-8.276;QD=5.15;ReadPosRankSum=0.688;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,15:81:99:0|1:21978396_G_A:431,0,2690:21978396	18	0	1	0
chr1	21978398	21978398	C	T	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.C73T:p.P25S	.	417	1095	10	0	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0100996723404	.	.	0.0002	0	0	0	0.0008	0.0002	0	6.068e-05	3.84e-05	1	26028	rs769262423	0.0014	0.0022	0.0013	0.0015	0.0021	0.0013	0.0013	0.0019	0.0018	0.0003	0.0009	0.0011	0.0003	0.0033	0.0016	0.0013	0.0017	0.0021	0.0035	0.0048	0.0036	0.0033	0.0057	0.0032	0.0031	0.0052	0.0051	0.0008	0	0.0015	0.0023	0.0006	0.0045	0	0.0057	0.0033	0.0038	0.052	0.39097	T	0.036	0.52060	D	0.001	0.07471	B	0.002	0.06944	B	0.000056	0.53742	D	0.127744	0.991764	0.23986	N	1.565	0.39561	L	2.31	0.16794	T	-5.7	0.87380	D	0.28	0.31702	-1.0466	0.15361	T	0.038	0.16548	T	10	0.08696371	0.14835	T	0.010	0.26235	T	0.094	0.27141	.	.	0.0611884634855	0.05136	0.7483825438036639	0.74784	0.166043844648	0.18736	0.356677532196	0.18901	T	0.028613	0.20688	T	-0.224454	0.17389	T	-0.560189	0.16359	T	0.120394064784545	0.14468	T	0.257074	0.04045	T	0.14659725	0.33551	0.17140582	0.39321	0.14659725	0.33551	0.17140582	0.39320	-5.632	0.43084	T	.	.	0.123	0.25850	B	.	.	1.775219	0.22574	15.68	0.97385492898801918	0.33696	0.28659	0.23614	N	AEFBI	0.252745	0.37236	N	-0.68952758415734	0.16319	0.8303565	-0.69475238898778	0.17090	0.90722	0.365341940087057	0.19817	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	4.17	0.48303	1.431000	0.34534	1.016000	0.23368	0.524000	0.24156	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.8383:0.1617:0.0	13.200	0.59185	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	.	.	.	.	.	.	.	.	0.02632	417.33	41	chr1	21978398	.	C	T	417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.78;DP=826;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.71;MQRankSum=-8.276;QD=5.15;ReadPosRankSum=0.639;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,15:81:99:0|1:21978396_G_A:431,0,2690:21978396	18	0	1	0
chr1	21978416	21978416	A	C	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.A91C:p.N31H	.	423	1089	10	0	0	10	0.00457038	.	.	.	2812452	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.145	0.00896937710721	.	0.00319489	0.0012	0.0003	0.0024	0.0009	0.0017	0.0010	0.0022	0.0019	0.0014295	221	154602	rs138865928	0.0020	0.0028	0.0018	0.0021	0.0039	0.0019	0.0019	0.0036	0.0034	0.0012	0.0027	0.0030	0.0007	0.0037	0.0019	0.0017	0.0025	0.0039	0.0044	0.0054	0.0046	0.0042	0.0066	0.0041	0.0040	0.0061	0.0059	0.0016	0	0.0028	0.0029	0.0019	0.0048	0	0.0066	0.0048	0.0063	0.059	0.37536	T	0.051	0.47828	T	0.003	0.11197	B	0.025	0.20508	B	0.000001	0.62929	D	0.054773	0.969413	0.38726	D	2.375	0.68372	M	2.17	0.19020	T	-3.33	0.66206	D	0.498	0.53093	-1.0550	0.13040	T	0.072	0.29130	T	10	0.026186883	0.00791	T	0.008969	0.23631	T	0.145	0.38592	.	.	0.0806252709748	0.07271	0.71909276535124	0.71852	0.196614953336	0.22022	0.645078599453	0.59286	T	0.376937	0.74022	T	-0.528434	0.00392	T	-0.538619	0.18431	T	0.0555485125125992	0.06450	T	0.563244	0.19836	T	0.39449894	0.60350	0.30128324	0.56161	0.39449894	0.60350	0.30128324	0.56160	-8.037	0.61322	D	.	.	0.320	0.54514	B	.	.	3.541128	0.49734	22.8	0.989372278766526	0.48864	0.59085	0.30818	D	AEFGBI	0.535722	0.55423	D	-0.159271809040071	0.34843	1.993903	-0.080455807497522	0.36199	2.103598	0.00486843319821761	0.10742	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	5.1	0.68917	1.276000	0.32760	7.862000	0.71495	-0.117000	0.14459	0.003000	0.16062	1.000000	0.68203	0.787000	0.37188	1.0:0.0:0.0:0.0	12.832	0.57132	798	0.45050	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	334.33	41	chr1	21978416	.	A	C	334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.43;DP=825;ExcessHet=0;FS=2.379;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.97;MQRankSum=-8.549;QD=4.23;ReadPosRankSum=-1.507;SOR=1.116	GT:AD:DP:GQ:PL	0/1:63,16:79:99:348,0,1587	18	0	1	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	17994.5	37	chr1	26282374	.	ACC	*	17994.5	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.73;DP=1069;ExcessHet=0.0541;FS=10.717;InbreedingCoeff=0.1965;MLEAC=9;MLEAF=0.281;MQ=60;MQRankSum=0;QD=23.31;ReadPosRankSum=1.35;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,20:54:99:0|1:26282270_C_T:2188,1309,1238:26282270	8	0	8	3
chr1	26282380	26282382	ACT	0	exonic	UBXN11	.	.	.	.	398	787	290	46	1	383	0.195297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	1020.95	37	chr1	26282380	.	ACT	*	1020.95	.	AC=12;AF=0.462;AN=26;BaseQRankSum=0.818;DP=1059;ExcessHet=0.0278;FS=14.798;InbreedingCoeff=0.1363;MLEAC=15;MLEAF=0.577;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.069;SOR=0.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,34:61:99:0|1:26282270_C_T:1217,0,912:26282270	5	4	4	6
chr1	26282383	26282405	GGGGCCGGGACCGGGACCGGGAC	0	exonic	UBXN11	.	.	.	.	382	803	290	46	1	383	0.192153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	993.49	37	chr1	26282383	.	GGGGCCGGGACCGGGACCGGGAC	*	993.49	.	AC=12;AF=0.429;AN=28;BaseQRankSum=0.041;DP=1069;ExcessHet=0.0278;FS=15.846;InbreedingCoeff=0.1828;MLEAC=14;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=-0.087;SOR=0.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,34:61:99:0|1:26282270_C_T:1217,0,912:26282270	6	4	4	5
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	7050.5	37	chr1	26282386	.	GCCGGGA	*	7050.5	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.405;DP=1110;ExcessHet=0.1862;FS=10.987;InbreedingCoeff=0.0738;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=1.39;SOR=0.236	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,34:55:99:0|1:26282270_C_T:2203,856,754:26282270	7	4	5	3
chr1	29148664	29148664	C	T	exonic	SRSF4	.	nonsynonymous SNV	SRSF4:NM_005626:exon6:c.G1231A:p.V411M	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00268325250806	0.0003	0.000998403	0.0002	0.0015	0.0002	0	0	4.505e-05	0	0.0002	0.0001876	29	154602	rs148605776	0.0001	0.0001	9.256e-05	0.0001	0.0022	8.847e-05	8.333e-05	0.0018	0.0016	0.0022	0.0002	0	0	0	0.0010	2.878e-05	0.0002	0.0002	0.0005	0.0005	0.0005	0.0006	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	0.0003	0	0	0	0.0034	2.941e-05	0.0005	0.0002	0.095	0.31235	T	0.106	0.37872	T	0.002	0.09854	B	0.001	0.04355	B	0.006527	0.01129	N	2.860430	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.17	0.09627	N	0.068	0.04072	-0.9921	0.32063	T	0.039	0.16849	T	10	0.0043317676	0.00088	T	0.002683	0.05492	T	0.011	0.01250	.	.	0.215239754934	0.21150	0.15618389817388648	0.15539	0.224907285127	0.25025	0.253161787987	0.04108	T	0.009709	0.08820	T	-0.672454	0.00053	T	-0.763337	0.02994	T	0.00158846704289317	0.00016	T	0.59644	0.22167	T	0.036011916	0.04350	0.041680586	0.04792	0.036011916	0.04350	0.041680586	0.04792	-5.499	0.41858	T	.	.	0.099	0.16713	B	.	.	1.527274	0.19602	14.34	0.7798090487681888	0.12105	0.22436	0.21746	N	AEFDGBHCI	0.067846	0.13358	N	-1.16278510005247	0.05573	0.2543889	-1.17615908544801	0.06310	0.3033224	0.923505422821898	0.26746	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.63	-0.122	0.12871	0.171000	0.16497	1.180000	0.24688	-0.172000	0.11096	0.000000	0.06391	0.010000	0.20010	0.709000	0.34421	0.0:0.5451:0.2304:0.2246	7.912	0.28960	602	0.67834	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2979.33	60	chr1	29148664	.	C	T	2979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.95;DP=910;ExcessHet=0;FS=0.471;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.53;SOR=0.638	GT:AD:DP:GQ:PL	0/1:128,119:247:99:2993,0,3221	18	0	1	0
chr1	29275715	29275715	G	T	exonic	PTPRU	.	nonsynonymous SNV	PTPRU:NM_001195001:exon8:c.G1412T:p.R471L,PTPRU:NM_005704:exon8:c.G1412T:p.R471L,PTPRU:NM_133177:exon8:c.G1412T:p.R471L,PTPRU:NM_133178:exon8:c.G1412T:p.R471L	.	433	1052	36	1	0	38	0.0177404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0052	0.00638978	0.0095	0.0008	0.0170	0.0013	0.0120	0.0086	0.0067	0.0172	0.0086092	1331	154602	rs35745442	0.0071	0.0071	0.0067	0.0074	0.0244	0.0069	0.0069	0.0212	0.0199	0.0010	0.0165	0.0105	0.0012	0.0125	0.0244	0.0057	0.0092	0.0177	0.0061	0.0061	0.0056	0.0067	0.0176	0.0058	0.0057	0.0146	0.0135	0.0009	0	0.0110	0.0098	0.0015	0.0133	0.0068	0.0065	0.0066	0.0176	0.166	0.24564	T	0.009	0.67890	D	0.912	0.53479	P	0.219	0.44178	B	0.000031	0.55875	D	0.069695	0.999525	0.47407	D	2.275	0.64647	M	0.64	0.52867	T	-4.39	0.77225	D	0.647	0.65844	-0.8413	0.52560	T	0.127	0.43380	T	9	0.009268105	0.00209	T	.	.	.	0.192	0.47115	.	.	0.24933006939	0.24537	0.6364288534790301	0.63576	0.72036751428	0.62177	0.577766299248	0.49771	T	0.327914	0.69838	T	-0.369222	0.03633	T	-0.289512	0.45823	T	0.0330116464804545	0.02473	T	0.987868	0.95886	D	0.38455072	0.59643	0.32482594	0.58403	0.38998896	0.60031	0.32482594	0.58402	-8.927	0.67704	D	.	.	0.231	0.46779	B	.;.;.;.	.;.;.;.	4.957788	0.81954	27.7	0.99732887324895736	0.82904	0.97459	0.74885	D	AEFBI	0.933729	0.92606	D	0.571116940105998	0.71377	5.641609	0.620875087269441	0.76457	6.494692	0.999927777652176	0.46280	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.4	5.4	0.77957	7.238000	0.77628	7.637000	0.63009	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.531	0.90944	371	0.84287	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	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	0.013595	0.015152	0.006793	0.023392	0.050000	0.008621	0.018293	0.015152	0.07895	2793.79	38	chr1	29275715	.	G	T	2793.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.813;DP=793;ExcessHet=0.3672;FS=1.161;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.061;SOR=0.57	GT:AD:DP:GQ:PL	0/1:49,37:86:99:1040,0,1326	16	0	3	0
chr1	30739047	30739047	G	A	exonic	LAPTM5	.	nonsynonymous SNV	LAPTM5:NM_006762:exon5:c.C403T:p.P135S	.	423	1086	13	0	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	.	0.0068	0.00379393	0.0123	0.0018	0.0084	0	0.0716	0.0162	0.0242	0.0009	0.0067852	1049	154602	rs34101571	0.0092	0.0092	0.0093	0.0090	0.0093	0.0090	0.0090	0.0092	0.0091	0.0015	0.0057	0.0133	0	0.0325	0.0089	0.0093	0.0085	0.0012	0.0081	0.0081	0.0071	0.0093	0.0087	0.0078	0.0076	0.0082	0.0079	0.0019	0	0.0069	0.0121	0	0.0360	0.0306	0.0087	0.0085	0.0014	0.182	0.21801	T	0.231	0.25061	T	1.0	0.90584	D	1.0	0.97372	D	0.000014	0.62929	D	0.071834	0.912274	0.36443	D	2.82	0.82106	M	-0.04	0.63240	T	-3.14	0.64019	D	0.442	0.48042	-0.2830	0.75458	T	0.253	0.62281	T	10	0.0086191	0.00195	T	.	.	.	0.508	0.78848	.	.	0.713346928536	0.71084	0.7722297890996368	0.77172	0.451262029509	0.44877	0.497715383768	0.38509	T	0.376112	0.73957	T	-0.131729	0.31217	T	0.0459654	0.73317	D	0.0293732744053332	0.01894	T	0.752425	0.37456	T	0.15051475	0.34262	0.17167628	0.39367	0.15051475	0.34261	0.17167628	0.39366	-2.585	0.06390	T	.	.	0.200	0.42404	B	.	.	3.249846	0.44396	21.9	0.99629821214065184	0.75959	0.79126	0.39151	D	AEFGBHCI	0.502431	0.53485	D	0.297796703602127	0.56036	3.767906	0.219991395826243	0.50956	3.282586	0.999999987528689	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.565031	0.19037	0	0.714379	0.83352	0	.	.	5.73	4.81	0.61401	4.314000	0.58957	6.720000	0.56427	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	0.0:0.1653:0.8347:0.0	12.726	0.56545	958	0.09170	.	.	.	.	.	rs34101571	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.010101	0.009537	0.000000	0.050000	0.017241	0.009202	0.011364	0.05263	2302.83	35	chr1	30739047	.	G	A	2302.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.01;DP=786;ExcessHet=0.119;FS=3.334;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.918;SOR=0.476	GT:AD:DP:GQ:PL	0/1:61,45:106:99:1041,0,1616	17	0	2	0
chr1	45633646	45633646	C	G	exonic	GPBP1L1	.	nonsynonymous SNV	GPBP1L1:NM_021639:exon10:c.G887C:p.S296T	.	0	225	1	0	0	1	0.00221729	0.9645	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.011312631025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.21385	T	0.439	0.13365	T	0.976	0.58310	D	0.576	0.50064	P	0.000003	0.62929	D	0.169313	0.98144	0.39777	D	2.47	0.71715	M	1.89	0.23688	T	-1.45	0.35597	N	0.381	0.43899	-1.1111	0.02977	T	0.086	0.33354	T	10	0.21375588	0.37877	T	0.011313	0.28804	T	0.130	0.35528	0.109	0.01988	0.0762999501168	0.06990	0.0700655360775902	0.06943	0.396017146282	0.40719	0.535530507565	0.43814	T	0.039992	0.25379	T	-0.144795	0.29131	T	-0.445765	0.28165	T	0.737415955268031	0.42599	D	0.713029	0.32487	T	0.16052951	0.36000	0.2229109	0.47151	0.16052951	0.35999	0.2229109	0.47150	-3.87	0.21854	T	.	.	0.074	0.05017	B	.;.	.;.	4.142322	0.62066	24.4	0.99265627107198184	0.57356	0.98999	0.89757	D	AEFBI	0.649348	0.62384	D	0.433395416729376	0.63268	4.55731	0.496322626441101	0.67746	5.125422	0.999999024030012	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	2.559000	0.45550	5.872000	0.50545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.020	0.97491	207	0.91931	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1201.33	33	chr1	45633646	.	C	G	1201.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.225;DP=706;ExcessHet=0;FS=4.378;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-1.159;SOR=0.349	GT:AD:DP:GQ:PL	0/1:42,47:89:99:1215,0,1238	18	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	11397.8	13	chr1	50419106	.	G	*	11397.8	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.18;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=8;MLEAF=0.211;MQ=59.95;MQRankSum=0;QD=28.28;ReadPosRankSum=0.367;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,15:27:99:1|0:50419101_CCGGCGG_C:1328,447,459:50419101	11	0	8	0
chr1	52397762	52397762	C	T	exonic	ORC1	.	nonsynonymous SNV	ORC1:NM_001190818:exon4:c.G325A:p.A109T,ORC1:NM_001190819:exon4:c.G325A:p.A109T,ORC1:NM_004153:exon4:c.G325A:p.A109T	Meier-Gorlin syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1327528	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0182369587672	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs780169538	4.788e-06	4.788e-06	5.445e-06	4.125e-06	0.0002	1.99e-06	1.28e-06	.	.	0	2.236e-05	0	0	0	0.0002	8.993e-07	6.623e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.541e-05	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	0	0.0005	0	0.234	0.18061	T	0.312	0.19599	T	0.024	0.19075	B	0.064	0.27215	B	0.003604	0.34713	N	0.338090	1	0.08975	N	1.67	0.42885	L	0.97	0.42502	T	-0.83	0.22727	N	0.147	0.15328	-1.0327	0.19586	T	0.067	0.27537	T	10	0.08355966	0.13912	T	0.018237	0.40237	T	0.045	0.12272	0.35	0.34760	0.40146981186	0.39757	0.36070192394847067	0.35984	0.173787969131	0.19568	0.255357295275	0.04354	T	0.290825	0.66359	T	-0.327831	0.06277	T	-0.625818	0.10733	T	0.115247942507267	0.13960	T	0.636336	0.25008	T	0.04107644	0.05984	0.057838287	0.10586	0.04107644	0.05984	0.057838287	0.10586	-4.3	0.28177	T	0.26019203557515763	0.35140	0.075	0.05535	B	.;.	.;.	1.581453	0.20234	14.65	0.9925746293147556	0.57088	0.13279	0.17766	N	AEFBCI	0.042915	0.06719	N	-0.822695903507907	0.12731	0.6224708	-0.811417687105938	0.14219	0.7418348	0.683724793627119	0.22510	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.24	1.19	0.20120	0.660000	0.24691	0.047000	0.13948	0.454000	0.21428	0.025000	0.20085	0.000000	0.08366	0.988000	0.63387	0.1241:0.4171:0.2422:0.2165	1.992	0.03238	329	0.86514	Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) domain;Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) 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	.	.	.	.	.	.	.	.	0.02632	1598.33	34	chr1	52397762	.	C	T	1598.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.658;DP=772;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.294;SOR=0.847	GT:AD:DP:GQ:PL	0/1:77,67:144:99:1612,0,1990	18	0	1	0
chr1	53210659	53210659	G	T	exonic	CPT2	.	nonsynonymous SNV	CPT2:NM_000098:exon4:c.G985T:p.D329Y,CPT2:NM_001330589:exon4:c.G985T:p.D329Y	CPT II deficiency, infantile, Autosomal recessive;CPT II deficiency, lethal neonatal, Autosomal recessive;CPT II deficiency, myopathic, stress-induced, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	448203	Inborn_genetic_diseases|Carnitine_palmitoyltransferase_II_deficiency|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.679	0.0986636199281	.	.	8.249e-05	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs750191719	2.052e-05	2.052e-05	1.225e-05	2.888e-05	0.0002	1.456e-05	1.264e-05	1.663e-05	1.425e-05	0	0	0	0	0	0.0002	2.428e-05	3.311e-05	0	2.629e-05	2.627e-05	3.854e-05	1.345e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.003	0.68238	D	0.002	0.79402	D	1.0	0.90584	D	0.987	0.77487	D	0.000015	0.62929	D	0.179595	1	0.81001	D	2.53	0.73802	M	-2.86	0.91421	D	-7.26	0.94377	D	0.757	0.75559	0.747	0.93756	D	0.828	0.94210	D	10	0.8895941	0.88297	D	0.098664	0.76980	D	0.679	0.88205	.	.	0.944487895422	0.94390	0.7031125264551901	0.70252	0.608496289833	0.55620	0.482821136713	0.36445	T	0.701124	0.91395	D	0.188813	0.72855	D	0.231084	0.84723	D	0.868055582046509	0.51804	D	0.957704	0.86214	D	0.9114241	0.92427	0.8971275	0.94772	0.9114241	0.92428	0.8971275	0.94773	-10.951	0.79389	D	0.7434267106452479	0.82551	0.262	0.51660	B	.;.;.;.;.	.;.;.;.;.	5.060834	0.84352	28.3	0.99564441680360416	0.72014	0.99613	0.97991	D	AEFDBI	0.934401	0.92772	D	0.86111475391745	0.89732	10.09402	0.856447785026183	0.93386	12.00917	0.99999999992456	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	10.003000	0.99689	11.902000	0.99384	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	19.439	0.94803	466	0.78352	Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2067.33	33	chr1	53210659	.	G	T	2067.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.662;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.708;SOR=0.719	GT:AD:DP:GQ:PL	0/1:74,75:149:99:2081,0,1953	18	0	1	0
chr1	54673115	54673115	G	A	exonic	MROH7	.	nonsynonymous SNV	MROH7:NM_001291332:exon6:c.G178A:p.A60T,MROH7:NM_001039464:exon8:c.G1624A:p.A542T	.	409	1111	2	0	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00504799664399	.	.	4.183e-05	0	8.735e-05	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs757255939	3.079e-05	3.078e-05	1.089e-05	5.088e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0004	0	0	0	0	0	0	0	0	0.0005	6.569e-05	6.562e-05	0	0.0001	0.0021	3.516e-05	2.615e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.011	0.56456	D	0.136	0.36497	T	0.872	0.53183	P	0.578	0.52497	P	0.004898	0.33292	N	0.132843	0.908511	0.27557	N	2.87	0.83286	M	2.5	0.14408	T	-3.27	0.65512	D	0.26	0.32148	-1.0966	0.04528	T	0.055	0.23262	T	10	0.10892838	0.20299	T	0.005048	0.12784	T	0.125	0.34456	0.489	0.57415	0.143124449307	0.13826	0.27650832556807653	0.27563	0.176539232484	0.19871	0.398651063442	0.24880	T	0.01492	0.12614	T	-0.354203	0.04468	T	-0.436046	0.29251	T	0.789098799228668	0.45630	D	0.723828	0.33737	T	0.115359314	0.27223	0.15805474	0.36927	0.115359314	0.27223	0.15805474	0.36926	-8.062	0.62915	D	.	.	0.154	0.33981	B	.;.;.;.	.;.;.;.	3.382816	0.46799	22.4	0.99830443325868445	0.91198	0.60526	0.31220	D	AEFBI	0.286393	0.39879	N	0.314937784978073	0.56913	3.85708	0.264947849149565	0.53504	3.519008	7.3580619713199E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.0	3.04	0.34171	1.847000	0.38939	6.057000	0.53139	0.676000	0.76740	0.922000	0.32020	1.000000	0.68203	0.949000	0.49496	0.0:0.0:0.755:0.245	8.407	0.31782	774	0.48577	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1509.33	38	chr1	54673115	.	G	A	1509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.223;DP=775;ExcessHet=0;FS=3.592;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=1.75;SOR=0.901	GT:AD:DP:GQ:PL	0/1:48,57:105:99:1523,0,1199	18	0	1	0
chr1	66925050	66925067	GGTGGCGGCAGCAGCGAA	-	exonic	MIER1	.	nonframeshift deletion	MIER1:NM_001077700:exon1:c.22_39del:p.S11_G16del,MIER1:NM_001077703:exon1:c.22_39del:p.S11_G16del,MIER1:NM_001350530:exon1:c.22_39del:p.S11_G16del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0014	0	0.0016	0	0.0002	0	0.0004	3.84e-05	1	26028	rs750309531	6.944e-05	6.704e-05	4.804e-05	9.14e-05	0.0004	5.82e-05	5.391e-05	0.0003	0.0002	0	0.0002	0	0.0001	2.04e-05	0.0002	4.452e-05	0.0001	0.0004	0.0001	0.0001	8.993e-05	0.0001	0.0003	6.506e-05	5.318e-05	8.866e-05	5.279e-05	0.0001	0	0.0003	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	485.29	34	chr1	66925049	.	CGGTGGCGGCAGCAGCGAA	C	485.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.921;DP=663;ExcessHet=0;FS=1.323;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.095;SOR=0.918	GT:AD:DP:GQ:PL	0/1:23,14:37:99:499,0,903	18	0	1	0
chr1	67169528	67169528	G	A	exonic	IL23R	.	nonsynonymous SNV	IL23R:NM_144701:exon3:c.G257A:p.R86Q	.	.	.	.	.	.	.	.	.	.	.	1153673	IL23R-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.129	.	0.0019	0.00119808	0.0028	0.0004	0.0003	0	0.0154	0.0033	0.0044	0	0.0024838	384	154602	rs76575803	0.0027	0.0027	0.0027	0.0027	0.0026	0.0026	0.0026	0.0025	0.0025	0.0002	0.0006	0.0005	0	0.0155	0	0.0026	0.0024	0	0.0029	0.0029	0.0026	0.0032	0.0033	0.0027	0.0026	0.0029	0.0028	0.0006	0	0.0010	0.0006	0	0.0162	0	0.0033	0.0019	0	0.411	0.10115	T	0.486	0.11691	T	0.196	0.29532	B	0.012	0.16012	B	0.546320	0.05343	N	1.218280	1	0.08975	N	0.75	0.19020	N	-1.93	0.84842	D	0.12	0.05604	N	0.136	0.13341	-0.9577	0.39608	T	0.190	0.54183	T	10	0.004992068	0.00107	T	.	.	.	0.129	0.35316	.	.	0.494299846589	0.49065	0.5681586471644214	0.56743	0.193406846356	0.21670	0.185986280441	0.00162	T	0.058575	0.30879	T	-0.438697	0.01316	T	-0.401981	0.33153	T	0.00199591395101002	0.00020	T	0.686731	0.29555	T	0.12462046	0.29234	0.041509487	0.04735	0.12462046	0.29234	0.041509487	0.04735	-2.404	0.05157	T	.	.	0.065	0.01834	B	.	.	0.498937	0.08683	5.452	0.75693926049051419	0.11174	0.01713	0.05435	N	AEFGBI	0.056683	0.10498	N	-1.17423146641199	0.05392	0.2456948	-1.22397144722398	0.05527	0.2635729	0.837551758137993	0.24807	0.487112	0.14033	0	0.541556	0.11502	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.61	-2.52	0.05978	-0.483000	0.06616	-0.653000	0.08018	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.805000	0.37950	0.478:0.0:0.3979:0.1241	6.055	0.19034	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2365.33	34	chr1	67169528	.	G	A	2365.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=806;ExcessHet=0;FS=3.499;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.252;SOR=0.476	GT:AD:DP:GQ:PL	0/1:88,87:175:99:2379,0,2092	18	0	1	0
chr1	70159388	70159388	G	A	exonic	LRRC40	.	nonsynonymous SNV	LRRC40:NM_017768:exon10:c.C1162T:p.P388S	.	443	1054	24	1	0	26	0.0121837	.	.	.	696866	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.174	0.0103154875521	0.0030	0.000798722	0.0029	0.0007	0.0008	0	0.0002	0.0035	0.0022	0.0061	0.0025808	399	154602	rs145682711	0.0028	0.0029	0.0027	0.0030	0.0063	0.0027	0.0027	0.0052	0.0051	0.0003	0.0006	0.0140	0	0.0004	0.0063	0.0027	0.0033	0.0057	0.0022	0.0022	0.0022	0.0021	0.0058	0.0020	0.0019	0.0041	0.0036	0.0004	0.0011	0.0016	0.0173	0	0.0002	0	0.0028	0.0043	0.0058	0.133	0.26409	T	0.401	0.14961	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	3.035	0.86516	M	1.41	0.33412	T	-1.96	0.45404	N	0.555	0.58031	-0.9767	0.35749	T	0.110	0.39747	T	10	0.009340525	0.00211	T	0.010315	0.26698	T	0.174	0.44019	.	.	0.724671463743	0.72223	0.8025842613105568	0.80212	0.0943749820084	0.10650	0.569672703743	0.48631	T	0.009312	0.08481	T	-0.282919	0.10360	T	-0.177112	0.56790	T	0.055637002041646	0.06463	T	0.944706	0.79020	D	0.16501424	0.36746	0.17297256	0.39590	0.16501424	0.36746	0.17297256	0.39589	-8.055	0.61445	D	.	.	0.545	0.66570	A	.	.	4.657137	0.74301	26.1	0.99886025326421835	0.96126	0.96175	0.67878	D	AEFBI	0.679732	0.64366	D	0.645132602333635	0.76053	6.416277	0.658976542692519	0.79282	7.049295	0.999157564015876	0.38592	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	6.500000	0.73596	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.450	0.87481	898	0.25240	.	.	.	.	.	.	Likely benign	0	0	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	0.005035	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.011364	0.02632	269.33	34	chr1	70159388	.	G	A	269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.24;DP=638;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=-0.517;SOR=0.631	GT:AD:DP:GQ:PL	0/1:20,15:35:99:283,0,409	18	0	1	0
chr1	74463486	74463486	T	C	exonic	FPGT-TNNI3K;TNNI3K	.	nonsynonymous SNV	TNNI3K:NM_015978:exon21:c.T2057C:p.I686T,FPGT-TNNI3K:NM_001112808:exon23:c.T2360C:p.I787T,FPGT-TNNI3K:NM_001199327:exon23:c.T2360C:p.I787T	.	426	999	89	8	0	105	0.0499287	.	.	.	983822	not_specified|not_provided|TNNI3K-related_disorder|Atrial_conduction_disease	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0014500,MedGen:C4015285,OMIM:616117,Orphanet:436242	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.612	.	0.0041	0.0209665	0.0169	0.0061	0.0302	0.0441	0.0219	0.0060	0.0220	0.0415	0.015058	2328	154602	rs3737564	0.0085	0.0085	0.0076	0.0095	0.0415	0.0084	0.0084	0.0398	0.0391	0.0061	0.0254	0.0086	0.0415	0.0209	0.0310	0.0034	0.0136	0.0386	0.0098	0.0098	0.0087	0.0109	0.0443	0.0094	0.0092	0.0394	0.0375	0.0060	0	0.0145	0.0101	0.0409	0.0220	0.0170	0.0042	0.0123	0.0443	0.677	0.78490	T	0.002	0.79402	D	0.684	0.41517	P	0.272	0.39956	B	0.000020	0.62929	D	0.116676	0.999935	0.52935	D	2.225	0.63025	M	-1.52	0.81987	D	1.58	0.67477	N	0.512	0.56403	0.007	0.82391	D	0.428	0.77088	T	10	0.008914053	0.00202	T	.	.	.	0.612	0.84826	.	.	.	.	0.6018879179360921	0.73885	0.0332647967301	0.03475	.	.	.	0.54971	0.84731	D	-0.123018	0.32630	T	0.0819324	0.75706	D	0.0199967337014551	0.00700	T	0.890111	0.62362	D	0.66958565	0.76410	0.6346558	0.78674	0.66958565	0.76412	0.6346558	0.78675	-8.973	0.67523	D	0.2936958081766033	0.39050	0.154	0.45883	B	.;.;.	.;.;.	3.562511	0.50129	22.9	0.99666196559818743	0.78266	0.97744	0.76819	D	AEFGBCIJ	0.860783	0.77871	D	0.518357775504104	0.68177	5.181282	0.592106041842497	0.74370	6.125954	0.999999998736648	0.74766	0.554377	0.28877	0	0.624306	0.53593	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.91	5.91	0.95240	7.443000	0.79636	3.381000	0.38003	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.002	0.80097	893	0.26510	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025680	0.015152	0.025815	0.014620	0.000000	0.025862	0.030488	0.041667	0.05263	5680.83	43	chr1	74463486	.	T	C	5680.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.372;DP=1081;ExcessHet=0.119;FS=1.724;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.98;MQRankSum=0;QD=12.19;ReadPosRankSum=0.057;SOR=0.579	GT:AD:DP:GQ:PL	0/1:115,109:224:99:2645,0,2920	17	0	2	0
chr1	74475582	74475582	A	T	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon3:c.T1037A:p.L346H,LRRC53:NM_001382280:exon4:c.T1133A:p.L378H	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.0133786	0.0040	0.0414	0.0101	0	0	0.0032	0	0.0004	0.0012096	187	154602	rs45557838	0.0024	0.0021	0.0027	0.0021	0.0282	0.0022	0.0022	0.0260	0.0252	0.0282	0.0047	0.0068	0	2.084e-05	0.0113	0.0010	0.0057	0.0006	0.0096	0.0096	0.0101	0.0091	0.0292	0.0092	0.0090	0.0278	0.0273	0.0292	0	0.0082	0.0058	0	0	0.0034	0.0012	0.0095	0	0.0	0.91255	D	0.07	0.43721	T	.	.	.	.	.	.	0.382268	0.13373	N	0.648881	1	0.81001	D	.	.	.	0.71	0.51228	T	-0.38	0.13418	N	0.195	0.21449	-0.9857	0.33663	T	0.090	0.34601	T	7	0.0037481189	0.00070	T	.	.	.	0.032	0.07718	.	.	0.580897126437	0.57760	0.3412029103263562	0.34033	.	.	.	.	.	0.006122	0.05559	T	-0.481311	0.00727	T	-0.440462	0.28757	T	0.0862041396811646	0.10761	T	0.349965	0.07784	T	0.10629314	0.25134	0.17097598	0.39245	0.10629314	0.25133	0.17097598	0.39245	-4.879	0.35498	T	.	.	0.132	0.28406	B	.	.	2.608816	0.33880	19.47	0.97660300965466684	0.35195	0.57992	0.30523	D	AEFI	0.105083	0.21006	N	0.0462076699306813	0.43969	2.679543	0.0700664199592395	0.43053	2.615025	2.11913784501737E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	2.04	0.25787	0.664000	0.24749	1.211000	0.24907	0.756000	0.94297	1.000000	0.71638	0.996000	0.32793	0.997000	0.79791	0.6827:0.0:0.1651:0.1522	4.113	0.09539	768	0.49510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3152.33	149	chr1	74475582	.	A	T	3152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.818;DP=3298;ExcessHet=0;FS=6.061;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.529;SOR=1.035	GT:AD:DP:GQ:PL	0/1:115,126:241:99:3166,0,2812	18	0	1	0
chr1	84479292	84479292	C	T	exonic	RPF1	.	nonsynonymous SNV	RPF1:NM_025065:exon1:c.C11T:p.A4V	.	420	1058	43	1	0	45	0.0208237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0032	0.00938498	0.0077	0.0012	0.0048	0.0002	0.0090	0.0052	0.0093	0.0290	0.0062742	970	154602	rs145776320	0.0050	0.0050	0.0044	0.0056	0.0233	0.0049	0.0049	0.0224	0.0221	0.0006	0.0030	0.0019	2.534e-05	0.0087	0.0092	0.0038	0.0051	0.0233	0.0047	0.0047	0.0041	0.0053	0.0236	0.0044	0.0043	0.0201	0.0188	0.0006	0.0504	0.0048	0.0023	0	0.0094	0.0238	0.0048	0.0066	0.0236	0.033	0.44358	D	0.166	0.30828	T	0.0	0.02946	B	0.0	0.01387	B	0.250852	0.15513	N	0.659654	1	0.08975	N	0	0.06538	N	0.76	0.49919	T	-0.57	0.17210	N	0.162	0.19055	-1.0719	0.09001	T	0.025	0.10821	T	10	0.003259182	0.00056	T	.	.	.	0.096	0.27654	.	.	0.680047386688	0.67732	0.22224660766402687	0.22139	0.12998121625	0.14663	0.343664884567	0.16985	T	0.009167	0.08364	T	-0.532343	0.00372	T	-0.521194	0.20173	T	0.00951397986744732	0.00123	T	0.462454	0.13627	T	0.043112393	0.06663	0.059958003	0.11339	0.043112393	0.06662	0.059958003	0.11338	-4.719	0.33634	T	.	.	0.111	0.22391	B	.;.	.;.	1.868132	0.23728	16.13	0.99085465745944101	0.52075	0.18007	0.20080	N	ALL	0.089110	0.18063	N	-0.735227874754794	0.15036	0.7543253	-0.652024510879595	0.18165	0.9692089	0.999999999999662	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	6.08	4.17	0.48303	-0.126000	0.10539	0.504000	0.19021	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1265:0.5625:0.2247:0.0863	4.393	0.10780	636	0.64483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010081	0.000000	0.010870	0.002924	0.000000	0.000000	0.021472	0.018939	0.02632	887.33	39	chr1	84479292	.	C	T	887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.805;DP=727;ExcessHet=0;FS=3.959;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-1.044;SOR=0.387	GT:AD:DP:GQ:PL	0/1:52,40:92:99:901,0,1280	18	0	1	0
chr1	84555112	84555112	G	A	exonic	CTBS	.	nonsynonymous SNV	CTBS:NM_004388:exon7:c.C1045T:p.R349W	.	434	1079	9	0	0	9	0.00415321	.	.	.	732622	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.229	.	7.7e-05	0.00638978	0.0028	0	0.0003	0	0	7.494e-05	0	0.0199	0.002445	378	154602	rs147594119	0.0012	0.0012	0.0007	0.0017	0.0187	0.0011	0.0011	0.0179	0.0176	8.962e-05	0	0	7.561e-05	0	0.0007	3.868e-05	0.0012	0.0187	0.0007	0.0007	0.0004	0.0010	0.0216	0.0006	0.0006	0.0182	0.0170	4.818e-05	0	0	0	0	0	0	4.412e-05	0.0005	0.0216	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.99	0.78936	D	0.001699	0.38271	N	0.270866	0.967171	0.38577	D	2.98	0.85499	M	1.47	0.31987	T	-5.8	0.88148	D	0.33	0.37093	-0.8683	0.50657	T	0.147	0.47147	T	10	0.014495879	0.00305	T	.	.	.	0.229	0.52916	.	.	0.701561391093	0.69897	0.8264905981154119	0.82607	0.383263448751	0.39654	0.411233872175	0.26627	T	0.381955	0.74415	T	-0.359348	0.04167	T	-0.274018	0.47412	T	0.148192603036372	0.16958	T	0.941606	0.78180	D	0.42808107	0.62626	0.42399907	0.66253	0.42808107	0.62627	0.42399907	0.66253	-12.834	0.88667	D	.	.	0.156	0.34449	B	.	.	4.206626	0.63523	24.6	0.99913671902212386	0.98238	0.83434	0.42551	D	AEFBI	0.633341	0.61362	D	0.594938386766631	0.72858	5.872322	0.514048698421059	0.68935	5.289138	0.00100141263201572	0.08115	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.56	3.49	0.39065	1.352000	0.33637	1.415000	0.26314	0.674000	0.70861	0.985000	0.35982	0.481000	0.25102	0.458000	0.28074	0.0:0.0:0.6422:0.3578	12.667	0.56211	668	0.61153	Glycoside hydrolase family 18, catalytic domain|Chitinase II	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1379.33	34	chr1	84555112	.	G	A	1379.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.583;DP=790;ExcessHet=0;FS=2.201;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=1.55;SOR=0.507	GT:AD:DP:GQ:PL	0/1:74,65:139:99:1393,0,1783	18	0	1	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	2786.57	79	chr1	85158757	.	C	G	2786.57	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-0.484;DP=1521;ExcessHet=8.9063;FS=149.533;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=0.467;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,22:85:99:.:.:360,0,1551:.	4	0	11	4
chr1	86156379	86156379	G	T	exonic	COL24A1	.	nonsynonymous SNV	COL24A1:NM_152890:exon1:c.C18A:p.H6Q	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0242873985412	.	.	9.97e-05	0	0	0	0	1.502e-05	0	0.0007	8.41e-05	13	154602	rs761695812	5.067e-05	5.062e-05	3.543e-05	6.607e-05	0.0007	4.129e-05	3.782e-05	0.0005	0.0005	0	0	0	0	0	0.0003	1.17e-05	4.972e-05	0.0007	1.972e-05	1.97e-05	1.285e-05	2.692e-05	0.0004	5.24e-06	2.45e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.297	0.14645	T	0.309	0.19782	T	0.003	0.11197	B	0.004	0.10090	B	0.066484	0.21807	N	0.234937	0.994254	0.23556	N	1.06	0.26948	L	-2.59	0.89822	D	-0.2	0.39119	N	0.111	0.09772	-0.8540	0.51689	T	0.268	0.63950	T	10	0.089963615	0.15630	T	0.024287	0.47276	T	0.155	0.40530	0.373	0.38503	0.489243007833	0.48558	0.0837471414430937	0.08308	0.0340173804989	0.03570	0.466354131699	0.34181	T	0.007844	0.07220	T	-0.214942	0.18687	T	-0.185732	0.55989	T	0.0639157215242045	0.07769	T	0.410359	0.15921	T	0.111010514	0.26236	0.13949916	0.33281	0.111010514	0.26236	0.13949916	0.33280	-2.955	0.09705	T	.	.	0.095	0.31228	B	.;.	.;.	2.638082	0.34320	19.59	0.88078132891201166	0.17700	0.56736	0.30194	D	AEFDBCIJ	0.476697	0.52000	N	-0.187477024353087	0.33655	1.911855	0.0201699246904214	0.40654	2.42958	0.999998677584072	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.76	4.76	0.60189	4.017000	0.56879	9.795000	0.81665	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.806:0.194	10.504	0.44011	519	0.74455	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	486.33	40	chr1	86156379	.	G	T	486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.203;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=0.8;SOR=0.643	GT:AD:DP:GQ:PL	0/1:37,22:59:99:500,0,976	18	0	1	0
chr1	89133439	89133439	T	A	exonic	GBP7	.	nonsynonymous SNV	GBP7:NM_207398:exon10:c.A1481T:p.K494M	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0335627385225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	9.303e-05	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.077	0.42436	T	0.273	0.31830	B	0.127	0.32738	B	0.194822	0.16751	N	0.600496	1	0.08975	N	1.78	0.46185	L	0.18	0.60361	T	-2.98	0.62008	D	0.295	0.33360	-1.0000	0.29917	T	0.073	0.29483	T	10	0.13586143	0.25851	T	0.033563	0.55073	D	0.103	0.29403	.	.	0.208000267992	0.20380	0.17190995131581271	0.17110	0.0523284551214	0.05754	0.334021985531	0.15540	T	0.071433	0.34206	T	-0.159189	0.26885	T	-0.466441	0.25900	T	0.34719979763031	0.26908	T	0.0509949	0.01037	T	0.101794064	0.24048	0.07810975	0.17463	0.101794064	0.24048	0.07810975	0.17463	-6.802	0.52574	T	.	.	0.103	0.31507	B	.;.	.;.	1.005206	0.13839	10.39	0.611700509428586	0.06642	0.02579	0.07130	N	AEFI	0.071975	0.14349	N	-0.987630570462956	0.08867	0.4174243	-1.13621174465701	0.07018	0.3398426	3.46970483190476E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.45	-0.419	0.11725	-0.540000	0.06195	-5.534000	0.01684	-1.012000	0.01762	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2131:0.252:0.0:0.5349	2.360	0.04041	661	0.61838	Guanylate-binding protein/Atlastin, C-terminal|Guanylate-binding protein, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	45.33	36	chr1	89133439	.	T	A	45.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.234;DP=809;ExcessHet=0;FS=7.158;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.17;MQRankSum=-9.927;QD=0.45;ReadPosRankSum=-3.736;SOR=2.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,8:100:59:0|1:89133387_T_C:59,0,3839:89133387	18	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	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	.	.	.	.	.	.	.	.	0.081	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;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3947	4455.13	82	chr1	99884396	.	T	C	4455.13	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.146;DP=2242;ExcessHet=20.8569;FS=143.104;InbreedingCoeff=-0.6543;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.3;SOR=12.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,27:117:99:.:.:108,0,2018:.	4	0	15	0
chr1	100140852	100140852	G	C	exonic	TRMT13	.	nonsynonymous SNV	TRMT13:NM_019083:exon7:c.G502C:p.A168P	.	446	1075	1	0	0	1	0.0004649	0.9999	0	.	4089664	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.484	0.0345114721881	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455523226	6.861e-06	6.841e-06	8.193e-06	5.516e-06	4.674e-05	3.47e-06	2.53e-06	1.591e-05	9.35e-06	0	0	0	0	0	0	4.504e-06	1.662e-05	4.674e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.01	0.65728	D	1.0	0.90584	D	0.994	0.82059	D	0.000015	0.62929	D	0.148294	1	0.81001	D	3.175	0.88760	M	0.75	0.50192	T	-3.68	0.70314	D	0.968	0.97856	-0.3613	0.73225	T	0.337	0.70330	T	9	0.91195786	0.90561	D	0.034511	0.55723	D	0.484	0.77335	0.792	0.91365	0.829220577374	0.82760	0.8605580854935014	0.86019	0.813518623306	0.66839	0.719543218613	0.69980	T	0.260596	0.63198	T	0.276975	0.81055	D	0.160079	0.80811	D	0.974900901317596	0.70705	D	0.928707	0.73770	D	0.8821784	0.89846	0.863039	0.92387	0.8821784	0.89848	0.863039	0.92387	-15.587	0.97075	D	.	.	0.997	0.96936	P	.	.	6.461124	0.95248	34	0.99761249109352534	0.85091	0.98542	0.83898	D	AEFBI	0.841239	0.75845	D	0.893143196331097	0.91420	10.87442	0.85533736874032	0.93325	11.96806	0.999999986470699	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.88	5.88	0.94564	5.481000	0.66549	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.230	0.98349	603	0.67726	Methyltransferase TRM13	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	748.33	33	chr1	100140852	.	G	C	748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.585;DP=705;ExcessHet=0;FS=5.06;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.519;SOR=0.287	GT:AD:DP:GQ:PL	0/1:42,31:73:99:762,0,1128	18	0	1	0
chr1	102881759	102881759	T	C	exonic	COL11A1	.	nonsynonymous SNV	COL11A1:NM_080630:exon63:c.A4630G:p.I1544V,COL11A1:NM_001190709:exon64:c.A4861G:p.I1621V,COL11A1:NM_001854:exon65:c.A4978G:p.I1660V,COL11A1:NM_080629:exon65:c.A5014G:p.I1672V	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3883471	Autosomal_dominant_nonsyndromic_hearing_loss	MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0135044891398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.096e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.06302	T	0.599	0.08302	T	0.084	0.24799	B	0.054	0.25828	B	0.000686	0.42383	D	0.229019	0.999715	0.49177	D	1.33	0.33268	L	-0.69	0.72678	T	-0.49	0.16393	N	0.22	0.31478	-0.9358	0.43272	T	0.066	0.27191	T	10	0.15531173	0.29276	T	0.013504	0.32951	T	0.121	0.33580	0.612	0.74535	0.456461865991	0.45270	0.278426947402608	0.27755	0.0969139405913	0.10942	0.703980088234	0.67720	T	0.16752	0.51418	T	-0.107752	0.35141	T	-0.392555	0.34253	T	0.156811912244926	0.17633	T	0.889111	0.62070	D	0.048109196	0.08333	0.045482263	0.06130	0.048109196	0.08333	0.045482263	0.06129	-5.356	0.40494	T	0.09421832367199064	0.06282	0.130	0.32226	B	.;.;.;.	.;.;.;.	1.857039	0.23593	16.08	0.86408302633585987	0.16516	0.88994	0.49201	D	AEFBI	0.561912	0.56972	D	-0.76540797496906	0.14218	0.70649	-0.628545186233355	0.18760	1.003653	0.312617100436936	0.19303	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.677038	0.66255	0	.	.	4.9	-0.92	0.09942	1.230000	0.32214	0.933000	0.22794	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.0:0.0:0.5068:0.4932	13.829	0.62864	928	0.17405	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	66.35	66	chr1	102881759	.	T	C	66.35	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.976;DP=1125;ExcessHet=0.119;FS=109.747;InbreedingCoeff=-0.056;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=1.71;SOR=9.095	GT:AD:DP:GQ:PL	0/1:73,22:95:12:12,0,1367	17	0	2	0
chr1	103526236	103526236	C	T	exonic	RNPC3	.	nonsynonymous SNV	RNPC3:NM_017619:exon1:c.C166T:p.R56W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.0687339464261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1045400661	7.157e-07	2.736e-06	0	1.451e-06	3.172e-05	0	0	.	.	3.172e-05	0	0	0	0	0	0	0	0	1.315e-05	1.314e-05	0	2.694e-05	4.833e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.833e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.007	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	.	.	.	2.2	0.18570	T	-4.33	0.89684	D	0.663	0.68255	-0.9069	0.47227	T	0.125	0.42987	T	10	0.8072697	0.80051	D	0.068734	0.70533	D	0.443	0.74588	0.668	0.80602	0.394236971158	0.39037	0.7779341784764074	0.77743	0.445351969728	0.44427	0.783809244633	0.79504	T	0.085637	0.37547	T	0.21471	0.75275	D	0.0706398	0.74953	D	0.999001443386078	0.95858	D	0.957071	0.83996	D	0.64251375	0.74965	0.74040824	0.84655	0.64251375	0.74966	0.74040824	0.84656	-10.651	0.77744	D	0.4020511693843897	0.49370	0.571	0.76344	P	.;.;.;.	.;.;.;.	5.833167	0.93748	33	0.99915049080887552	0.98309	0.86986	0.46394	D	ALL	0.513218	0.54110	D	0.61114783265227	0.73879	6.038725	0.534117604131979	0.70302	5.485029	0.999999999999801	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.95	4.95	0.64894	3.170000	0.50516	5.824000	0.50107	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.361000	0.25909	0.0:1.0:0.0:0.0	16.140	0.81325	666	0.61362	.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM40, RNA recognition motif 1;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM40, RNA recognition motif 1;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM40, RNA recognition motif 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1229.33	33	chr1	103526236	.	C	T	1229.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.384;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.637;SOR=0.762	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1243,0,1104	18	0	1	0
chr1	109477999	109477999	A	G	exonic	SYPL2	.	nonsynonymous SNV	SYPL2:NM_001040709:exon5:c.A638G:p.N213S	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	.	0.0041	0.00159744	0.0059	0.0008	0.0008	0	0.0159	0.0083	0.0071	0.0023	0.005498	850	154602	rs62641754	0.0053	0.0053	0.0054	0.0052	0.0058	0.0052	0.0052	0.0057	0.0056	0.0007	0.0011	0.0002	2.519e-05	0.0139	0.0012	0.0058	0.0050	0.0023	0.0050	0.0050	0.0046	0.0053	0.0066	0.0047	0.0046	0.0061	0.0059	0.0012	0.0493	0.0024	0	0.0002	0.0158	0	0.0066	0.0005	0.0010	0.001	0.78490	D	0.003	0.76473	D	0.957	0.54824	D	0.751	0.56062	P	0.000000	0.84330	D	0.000000	0.999414	0.81001	D	2.955	0.85029	M	1.71	0.26737	T	-4.51	0.78222	D	0.91	0.91162	-0.9908	0.32398	T	0.103	0.37894	T	10	0.013972938	0.00295	T	.	.	.	0.410	0.72176	.	.	0.223847106136	0.22009	0.7252880645645586	0.72472	0.631928963362	0.57141	0.692426621914	0.66054	T	0.477208	0.80754	T	-0.407462	0.02067	T	-0.347679	0.39470	T	0.020658057054465	0.00766	T	0.923508	0.72088	D	0.5628381	0.70666	0.6351804	0.78703	0.5628381	0.70667	0.6351804	0.78704	-8.906	0.67090	D	.	.	0.284	0.51686	B	.	.	4.651097	0.74149	26.1	0.99870868755598652	0.94815	0.91216	0.53088	D	AEFDGBHCI	0.816927	0.73854	D	0.727220554962597	0.81416	7.517218	0.735654743539371	0.85082	8.475595	0.999999999974968	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.550215	0.18615	0	0.530356	0.10902	0	.	.	6.04	6.04	0.98025	7.413000	0.79318	11.244000	0.90520	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.559	0.75963	576	0.70006	Marvel domain|Marvel domain	.	.	.	.	rs62641754	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	583.33	33	chr1	109477999	.	A	G	583.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.72;DP=701;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.097;SOR=0.52	GT:AD:DP:GQ:PL	0/1:31,20:51:99:597,0,808	18	0	1	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G,KCNC4:NM_001377330:exon2:c.C692G:p.A231G,KCNC4:NM_004978:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2216.57	41	chr1	110222977	.	C	G	2216.57	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.991;DP=2097;ExcessHet=6.9875;FS=75.345;InbreedingCoeff=-0.4467;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=1.23;SOR=10.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,21:143:87:0|1:110222977_C_G:87,0,4832:110222977	7	0	10	2
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C,KCNC4:NM_001377330:exon2:c.C695G:p.S232C,KCNC4:NM_004978:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2139.97	41	chr1	110222980	.	C	G	2139.97	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.477;DP=2106;ExcessHet=8.9063;FS=71.671;InbreedingCoeff=-0.4138;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=1.45;SOR=10.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,21:148:72:0|1:110222977_C_G:72,0,4986:110222977	8	0	11	0
chr1	110222982	110222982	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C697G:p.L233V,KCNC4:NM_001377330:exon2:c.C697G:p.L233V,KCNC4:NM_004978:exon2:c.C697G:p.L233V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.146920177704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.11919	T	0.578	0.10643	T	0.008	0.27402	B	0.057	0.26280	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.105	0.28596	L	-4.42	0.97469	D	-1.47	0.35991	N	0.715	0.71765	0.475	0.90190	D	0.781	0.92551	D	10	0.67977595	0.71209	D	0.14692	0.82899	D	0.597	0.84019	0.507	0.60232	0.970349058238	0.97003	0.7767111040505488	0.77621	2.1969115238	0.95663	0.860170543194	0.91136	D	0.382192	0.74433	T	0.19509	0.73434	D	0.0424575	0.73088	D	0.898567736148834	0.55069	D	0.959204	0.87416	D	0.3946045	0.60357	0.26400998	0.52214	0.3946045	0.60357	0.26400998	0.52213	-7.933	0.60613	D	.	.	0.865	0.82233	P	.;.;.	.;.;.	3.881184	0.56413	23.7	0.97300471871801075	0.33275	0.99055	0.90567	D	AEFDGBI	0.882603	0.81085	D	-0.0424401364828146	0.39940	2.363618	0.150967903423767	0.47194	2.953265	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	940.8	41	chr1	110222982	.	C	G	940.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-5.687;DP=1389;ExcessHet=1.3;FS=68.969;InbreedingCoeff=-0.1515;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=1.39;SOR=8.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,21:148:72:0|1:110222977_C_G:72,0,4986:110222977	16	0	3	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3684	2088.26	101	chr1	112913901	.	C	G	2088.26	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.359;DP=1774;ExcessHet=17.0548;FS=69.726;InbreedingCoeff=-0.5826;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=1.26;SOR=10.398	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,17:113:99:.:.:212,0,2154:.	5	0	14	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	6987.05	189	chr1	114732648	.	C	G	6987.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.206;DP=2914;ExcessHet=25.4433;FS=278.375;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=1.01;SOR=12.498	GT:AD:DP:GQ:PL	0/1:82,42:133:99:359,0,1024	3	0	16	0
chr1	145672876	145672876	C	T	exonic	PDZK1	.	nonsynonymous SNV	PDZK1:NM_001201326:exon6:c.G1027A:p.V343I,PDZK1:NM_001371361:exon7:c.G739A:p.V247I,PDZK1:NM_001201325:exon8:c.G1360A:p.V454I,PDZK1:NM_001371359:exon8:c.G1360A:p.V454I,PDZK1:NM_002614:exon9:c.G1360A:p.V454I	.	582	938	2	0	0	2	0.00106496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	0.0139066569148	.	.	.	.	.	.	.	.	.	.	.	.	.	rs587664483	0.0001	0.0001	9.687e-05	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0	0.0001	0	0	0	0.0005	0.0001	0.0003	0.0005	7.9e-05	7.877e-05	0.0001	5.386e-05	0.0006	4.505e-05	3.519e-05	0.0002	9.067e-05	0	0	0	0	0	0	0	0.0001	0	0.0006	0.0	0.91255	D	0.023	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.87	0.24085	T	-0.92	0.24676	N	0.46	0.49692	.	.	.	.	.	.	.	0.38544378	0.54505	T	.	.	.	.	.	.	.	.	.	0.44939582753630164	0.44857	.	.	.	.	.	0.131515	0.46106	T	.	.	.	.	.	.	.	.	.	0.859214	0.70605	D	.	.	.	.	.	.	.	.	-6.798	0.52544	T	.	.	0.143	0.31482	B	.;.;.	.;.;.	3.692863	0.52622	23.3	.	.	.	.	.	.	0.943631	0.94973	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.230000	0.77568	7.704000	0.66446	0.304000	0.19002	1.000000	0.71638	1.000000	0.68203	0.097000	0.18139	.	.	.	272	0.89337	.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1293.33	34	chr1	145672876	.	C	T	1293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.198;DP=710;ExcessHet=0;FS=1.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.97;MQRankSum=1.21;QD=15.04;ReadPosRankSum=-0.939;SOR=0.459	GT:AD:DP:GQ:PL	0/1:38,48:86:99:1307,0,895	18	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1581.67	33	chr1	145872713	.	C	G	1581.67	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.79;DP=2324;ExcessHet=8.9063;FS=153.011;InbreedingCoeff=-0.4246;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.037;SOR=11.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,36:153:99:0|1:145872713_C_G:117,0,3486:145872713	8	0	11	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1091.56	162	chr1	145872714	.	C	G	1091.56	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.472;DP=2468;ExcessHet=6.9875;FS=132.372;InbreedingCoeff=-0.388;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.29;SOR=11.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,36:153:99:0|1:145872713_C_G:117,0,3486:145872713	9	0	10	0
chr1	148559846	148559846	C	T	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon32:c.G4169A:p.S1390N	.	462	1054	4	2	0	8	0.00378072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357344090	0.0058	0.0060	0.0059	0.0057	0.0059	0.0057	0.0056	0.0058	0.0058	0.0013	0.0012	0.0014	0	0.0232	0.0005	0.0059	0.0050	0.0008	0.0064	0.0065	0.0057	0.0071	0.0085	0.0060	0.0059	0.0079	0.0077	0.0012	0.0199	0.0019	0.0009	0	0.0195	0	0.0085	0.0015	0.0024	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.15187	.	.	.	.	.	.	.	0.0045357347	0.00094	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79802	0.44691	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.821	0.78304	P	.;.	.;.	0.551967	0.09206	5.988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.091000	0.11111	-0.231000	0.10676	0.146000	0.17681	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	929	0.16858	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	2033.72	34	chr1	148559846	.	C	T	2033.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.913;DP=738;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=59.54;MQRankSum=-1.723;QD=13.47;ReadPosRankSum=1.93;SOR=0.61	GT:AD:DP:GQ:PL	0/1:67,84:151:99:2047,0,1469	17	0	1	1
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	20288.3	149	chr1	149075685	.	C	A	20288.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=2.68;DP=7243;ExcessHet=8.9063;FS=9.436;InbreedingCoeff=-0.4084;MLEAC=11;MLEAF=0.289;MQ=47.06;MQRankSum=-6.736;QD=3.71;ReadPosRankSum=-1.169;SOR=1.49	GT:AD:DP:GQ:PL	0/1:482,82:564:99:774,0,12925	8	0	11	0
chr1	150817408	150817408	C	T	exonic	ARNT	.	nonsynonymous SNV	ARNT:NM_001197325:exon15:c.G1486A:p.D496N,ARNT:NM_178427:exon15:c.G1486A:p.D496N,ARNT:NM_001286036:exon16:c.G1531A:p.D511N,ARNT:NM_001350225:exon16:c.G1528A:p.D510N,ARNT:NM_001350226:exon16:c.G1525A:p.D509N,ARNT:NM_001668:exon16:c.G1531A:p.D511N,ARNT:NM_001286035:exon17:c.G1489A:p.D497N,ARNT:NM_001350224:exon17:c.G1504A:p.D502N	.	428	1078	16	0	0	16	0.00736648	.	.	.	706678	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.188	.	0.0070	0.00159744	0.0056	0.0020	0.0039	0.0001	0.0060	0.0081	0.0121	0.0013	0.0056856	879	154602	rs1805133	0.0072	0.0072	0.0072	0.0071	0.0148	0.0071	0.0070	0.0122	0.0113	0.0011	0.0053	0.0057	2.519e-05	0.0054	0.0148	0.0082	0.0068	0.0015	0.0059	0.0059	0.0060	0.0058	0.0082	0.0056	0.0054	0.0077	0.0074	0.0013	0.0493	0.0075	0.0043	0.0002	0.0076	0.0102	0.0082	0.0090	0.0008	0.01	0.57480	D	0.326	0.19304	T	0.258	0.34363	B	0.064	0.35348	B	0.961696	0.08219	N	0.979822	0.999997	0.58761	D	1.67	0.42885	L	3.56	0.05311	T	-0.55	0.17417	N	0.165	0.18103	-0.9027	0.47705	T	0.014	0.05753	T	10	0.004409611	0.00090	T	.	.	.	0.188	0.46444	.	.	0.52252745396	0.51898	0.2835616015415626	0.28269	0.292392038772	0.31654	0.436583131552	0.30110	T	0.15618	0.49824	T	-0.627418	0.00099	T	-0.666628	0.07826	T	0.0260590446103604	0.01415	T	0.952105	0.81652	D	0.07795843	0.17724	0.073027186	0.15823	0.07795843	0.17724	0.073027186	0.15822	-2.289	0.04923	T	.	.	0.097	0.20934	B	.;.;.;.	.;.;.;.	3.839721	0.55556	23.6	0.99804563029070648	0.88906	0.98663	0.85295	D	AEFDBI	0.479708	0.52174	N	0.228845668744077	0.52600	3.433292	0.35911990172889	0.59059	4.080645	0.999999999890436	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.6	5.6	0.84997	4.990000	0.63609	5.964000	0.51876	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.605	0.95571	66	0.97223	.;.;.;.	.	.	.	.	rs1805133	Likely benign	0	0	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	0.012588	0.000000	0.009511	0.026316	0.000000	0.008621	0.018293	0.003788	0.02632	963.33	33	chr1	150817408	.	C	T	963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.175;SOR=0.817	GT:AD:DP:GQ:PL	0/1:33,39:72:99:977,0,756	18	0	1	0
chr1	150988117	150988117	G	A	exonic	ANXA9	.	nonsynonymous SNV	ANXA9:NM_003568:exon11:c.G724A:p.G242R	.	425	1079	18	0	0	18	0.00827206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	.	0.0064	0.00179712	0.0052	0.0018	0.0035	0	0.0062	0.0075	0.0121	0.0014	0.0053557	828	154602	rs149528939	0.0069	0.0069	0.0069	0.0069	0.0161	0.0068	0.0067	0.0135	0.0125	0.0010	0.0050	0.0026	0	0.0051	0.0161	0.0080	0.0066	0.0016	0.0057	0.0057	0.0058	0.0056	0.0080	0.0054	0.0053	0.0075	0.0073	0.0013	0.0493	0.0075	0.0012	0.0002	0.0076	0.0068	0.0080	0.0090	0.0008	0.262	0.16466	T	0.064	0.44905	T	0.999	0.77913	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	.	.	.	3.47	0.05188	T	-2.3	0.51157	N	0.679	0.68603	-1.1888	0.00255	T	0.042	0.18160	T	10	0.007032603	0.00160	T	.	.	.	0.237	0.54074	0.539	0.65018	0.507748507896	0.50414	0.49330222328118417	0.49251	0.378643050212	0.39270	0.466411709785	0.34190	T	0.013643	0.11764	T	-0.3542	0.04468	T	-0.274453	0.47368	T	0.0401345116530294	0.03714	T	0.783522	0.42019	T	0.2142851	0.43830	0.20324847	0.44392	0.2142851	0.43830	0.20324847	0.44391	-7.191	0.55416	T	.	.	0.204	0.42990	B	.	.	4.781612	0.77512	26.7	0.99897181367402632	0.96971	0.88183	0.47998	D	AEFI	0.672975	0.63919	D	0.555645996826393	0.70425	5.499874	0.443698535827812	0.64315	4.683674	0.999859448279679	0.44174	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.31	5.31	0.75063	4.678000	0.61331	11.293000	0.92086	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.112000	0.18829	0.0:0.0:1.0:0.0	14.469	0.67085	154	0.93967	.	.	.	.	.	rs149528939	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.000000	0.010870	0.026316	0.000000	0.008621	0.012195	0.003788	0.02632	2753.33	34	chr1	150988117	.	G	A	2753.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.43;DP=891;ExcessHet=0;FS=5.986;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=0.322;SOR=0.415	GT:AD:DP:GQ:PL	0/1:94,103:197:99:2767,0,2418	18	0	1	0
chr1	151530113	151530113	G	A	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon12:c.G2311A:p.E771K	.	421	1096	5	0	0	5	0.00227583	0.9388	0.748	.	696092	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.439	.	0.0087	0.00139776	0.0070	0.0018	0.0041	0	0.0168	0.0096	0.0115	0.0010	0.0067981	1051	154602	rs41272459	0.0089	0.0089	0.0091	0.0087	0.0098	0.0088	0.0088	0.0096	0.0096	0.0017	0.0056	0.0108	0	0.0163	0.0090	0.0098	0.0096	0.0012	0.0067	0.0067	0.0064	0.0070	0.0090	0.0063	0.0062	0.0084	0.0082	0.0024	0	0.0056	0.0104	0	0.0153	0	0.0090	0.0090	0.0008	0.027	0.46513	D	0.026	0.55759	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	.	.	.	-0.3	0.67874	T	-3.27	0.65512	D	0.735	0.73555	-0.2561	0.76194	T	0.399	0.75095	T	10	0.007887691	0.00179	T	.	.	.	0.439	0.74306	.	.	0.669235589889	0.66644	0.5926339480291626	0.59193	0.683269447753	0.60155	0.443110078573	0.31002	T	.	.	.	-0.337199	0.05585	T	-0.250174	0.49799	T	0.00806716884766421	0.00096	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32945	B	.	.	5.339576	0.89592	31	0.99930201472110991	0.99334	0.99036	0.90290	D	AEFDGBI	0.915019	0.87922	D	0.748244193937756	0.82790	7.850594	0.724415727107518	0.84231	8.235202	0.999999999062965	0.74766	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.567892	0.33627	0	.	.	5.27	5.27	0.73797	7.278000	0.77961	11.824000	0.97325	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.716000	0.34643	0.0:0.0:1.0:0.0	17.448	0.87477	431	0.80762	.	.	.	.	.	.	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	0.007560	0.000000	0.005435	0.011696	0.000000	0.017241	0.015337	0.000000	0.02632	1669.33	34	chr1	151530113	.	G	A	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.966;DP=773;ExcessHet=0;FS=3.281;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.792;SOR=0.433	GT:AD:DP:GQ:PL	0/1:57,69:126:99:1683,0,1457	18	0	1	0
chr1	152112151	152112151	-	CTGCTCGCGCCTCAGCTG	exonic	TCHH	.	nonframeshift insertion	TCHH:NM_007113:exon3:c.1065_1066insCAGCTGAGGCGCGAGCAG:p.Q355_E356insQLRREQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.719e-05	1.574e-05	1.708e-05	1.73e-05	0.0001	1.125e-05	9.61e-06	4.869e-05	2.967e-05	0.0001	0	0	0	0	0	1.299e-05	4.148e-05	3.601e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	758.68	46	chr1	152112151	.	C	CCTGCTCGCGCCTCAGCTG	758.68	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.063;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.0416;MLEAC=1;MLEAF=0.028;MQ=57.53;MQRankSum=-2.273;QD=19.45;ReadPosRankSum=-1.254;SOR=0.551	GT:AD:DP:GQ:PL	0/1:19,20:39:99:772,0,736	17	0	1	1
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1290.07	114	chr1	152214827	.	A	*	1290.07	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.362;DP=5607;ExcessHet=13.8672;FS=40.595;InbreedingCoeff=-0.5202;MLEAC=10;MLEAF=0.263;MQ=28.03;MQRankSum=2.54;QD=0.28;ReadPosRankSum=-5.241;SOR=10.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:394,49:443:99:0|1:152214821_T_A:836,0,16224:152214821	9	0	10	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	637.96	114	chr1	152214830	.	C	*	637.96	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0;DP=5543;ExcessHet=11.1788;FS=40.595;InbreedingCoeff=-0.4637;MLEAC=10;MLEAF=0.263;MQ=27.92;MQRankSum=1.43;QD=0.15;ReadPosRankSum=-5.927;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:394,49:443:99:0|1:152214821_T_A:836,0,16224:152214821	9	0	10	0
chr1	152219783	152219783	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A1846G:p.T616A	.	420	854	248	0	0	248	0.126789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00149476757281	.	0.000199681	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	7.68e-05	2	26028	rs76694305	6.24e-06	0.0020	6.892e-06	5.579e-06	6.362e-06	2.94e-06	2.13e-06	2.65e-06	1.7e-06	0	0	0	0	0	0	6.362e-06	3.368e-05	0	0.0003	0.0047	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	0.0001	7.735e-05	0	0.0004	0.0003	0.0002	0.0010	0	0.0002	0.0005	0.0002	0.216	0.19225	T	0.964	0.02522	T	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	3.85	0.03650	T	-0.15	0.09297	N	0.069	0.04188	-0.9114	0.46682	T	0.001	0.00438	T	9	0.026376784	0.00806	T	0.001495	0.02292	T	0.006	0.00375	.	.	0.159798565429	0.15598	0.04495321470064539	0.04439	.	.	0.464960455894	0.33990	T	0.014021	0.12018	T	-0.440938	0.01277	T	-0.871154	0.00731	T	0.00228779240499744	0.00024	T	0.134287	0.01062	T	0.029704548	0.02508	0.040587634	0.04419	0.029704548	0.02508	0.040587634	0.04419	-5.418	0.41092	T	.	.	0.094	0.14385	B	.	.	-0.757427	0.01194	0.058	0.35753390048393252	0.02262	0.00077	0.00530	N	AEFBI	0.019714	0.00710	N	-1.8260051593638	0.00485	0.02085899	-1.92679296248285	0.00433	0.01915755	0.0320252303258179	0.14034	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.75	-7.45	0.01229	-3.458000	0.00516	.	.	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1213:0.532:0.0:0.3467	8.348	0.31445	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	5052.02	615	chr1	152219783	.	T	C	5052.02	.	AC=7;AF=0.194;AN=36;BaseQRankSum=7.93;DP=8689;ExcessHet=2.9153;FS=29.204;InbreedingCoeff=-0.2459;MLEAC=7;MLEAF=0.194;MQ=51.63;MQRankSum=-10.48;QD=1.56;ReadPosRankSum=-7.619;SOR=3.236	GT:AD:DP:GQ:PL	0/1:461,67:528:99:759,0,13155	11	0	7	1
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2195.52	180	chr1	153760378	.	C	G	2195.52	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.183;DP=2532;ExcessHet=6.9875;FS=288.096;InbreedingCoeff=-0.4251;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=0.865;SOR=12.942	GT:AD:DP:GQ:PL	0/1:103,57:160:99:332,0,1412	7	0	10	2
chr1	154348906	154348906	C	T	exonic	ATP8B2	.	nonsynonymous SNV	ATP8B2:NM_001367934:exon27:c.C3418T:p.R1140C,ATP8B2:NM_001370596:exon28:c.C3364T:p.R1122C,ATP8B2:NM_001370597:exon28:c.C3361T:p.R1121C,ATP8B2:NM_001372009:exon28:c.C3361T:p.R1121C	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	.	0.0005	0.00339457	0.0039	0	0.0005	0.0097	0.0238	0.0030	0.0169	0.0013	0.0032018	495	154602	rs41308375	0.0022	0.0022	0.0021	0.0022	0.0251	0.0021	0.0021	0.0238	0.0233	0	0.0006	0.0002	0.0251	0.0230	0.0019	0.0006	0.0025	0.0010	0.0029	0.0030	0.0017	0.0042	0.0143	0.0027	0.0026	0.0116	0.0107	4.809e-05	0	0.0008	0	0.0143	0.0271	0	0.0009	0.0038	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.987	0.77487	D	0.000073	0.52346	D	0.077472	0.999991	0.58761	D	.	.	.	0.23	0.59717	T	-4.64	0.79316	D	0.468	0.50418	-0.4666	0.69844	T	0.277	0.64845	T	10	0.005283594	0.00115	T	.	.	.	0.309	0.63055	.	.	0.419120893867	0.41530	0.7675922555337732	0.76708	1.52637698366	0.87510	0.769448161125	0.77342	T	.	.	.	-0.307981	0.07928	T	-0.20863	0.53827	T	0.0748110091319069	0.09310	T	0.954105	0.82551	D	.	.	.	.	.	.	.	.	-8.235	0.62660	D	.	.	.	.	.	.	.	5.353063	0.89789	31	0.99923860577422485	0.98917	0.97077	0.72555	D	AEFDBI	0.700388	0.65742	D	0.604917833634571	0.73485	5.973812	0.551325729195769	0.71490	5.662679	0.999989269126495	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	4.23	4.23	0.49319	5.653000	0.67639	5.871000	0.50535	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.701000	0.34172	0.0:1.0:0.0:0.0	15.331	0.73918	380	0.83728	.	.	.	.	.	rs41308375	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1021.33	36	chr1	154348906	.	C	T	1021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.23;DP=747;ExcessHet=0;FS=2.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.724;SOR=1.003	GT:AD:DP:GQ:PL	0/1:54,39:93:99:1035,0,1400	18	0	1	0
chr1	154436084	154436084	C	T	exonic	IL6R	.	nonsynonymous SNV	IL6R:NM_001382774:exon5:c.C563T:p.P188L,IL6R:NM_000565:exon6:c.C923T:p.P308L,IL6R:NM_001206866:exon6:c.C923T:p.P308L,IL6R:NM_001382769:exon6:c.C923T:p.P308L,IL6R:NM_001382770:exon6:c.C923T:p.P308L,IL6R:NM_001382771:exon6:c.C923T:p.P308L,IL6R:NM_001382772:exon6:c.C917T:p.P306L,IL6R:NM_001382773:exon6:c.C923T:p.P308L,IL6R:NM_181359:exon6:c.C923T:p.P308L	.	.	.	.	.	.	.	.	.	.	.	1022634	Hyper-IgE_recurrent_infection_syndrome_5,_autosomal_recessive|not_provided	MONDO:MONDO:0030069,MedGen:C5394550,OMIM:618944|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.0114393467974	0.0008	.	0.0005	0.0004	0	0	0.0023	0.0005	0.0036	0.0001	0.0005304	82	154602	rs148682883	0.0009	0.0009	0.0010	0.0008	0.0010	0.0009	0.0008	0.0010	0.0010	0.0002	0.0002	0.0009	0	0.0016	0.0002	0.0010	0.0005	0.0001	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0006	0.0010	0.0009	0.0003	0	6.545e-05	0.0003	0	0.0022	0	0.0012	0.0014	0.0004	0.135	0.31383	T	0.111	0.38016	T	0.956	0.57829	P	0.072	0.36881	B	0.275819	0.03801	N	1.452300	1	0.08975	N	2.545	0.74286	M	2.29	0.20523	T	-3.12	0.63782	D	0.245	0.27673	-0.9636	0.38488	T	0.047	0.20195	T	10	0.020596057	0.00477	T	0.011439	0.29067	T	0.109	0.30843	.	.	0.448891444097	0.44514	0.4743092951755962	0.47349	0.357179526398	0.37446	0.21482437849	0.01032	T	0.321055	0.69219	T	-0.534168	0.00363	T	-0.539118	0.18382	T	0.0699769132986473	0.08647	T	0.847115	0.52772	T	0.073226474	0.16348	0.09085925	0.21331	0.073226474	0.16348	0.09085925	0.21330	-5.292	0.39864	T	.	.	0.104	0.18950	B	.;.;.	.;.;.	1.008725	0.13873	10.43	0.77462859537269624	0.11887	0.01704	0.05416	N	AEFDBI	0.087481	0.17737	N	-0.783289222118454	0.13745	0.6793923	-0.989377809278295	0.10023	0.5022306	0.999999443619985	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.29	-5.12	0.02674	-0.847000	0.04439	-0.293000	0.10176	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.3825:0.5347:0.0828:0.0	11.055	0.47127	502	0.75873	Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1456.33	35	chr1	154436084	.	C	T	1456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.925;SOR=0.729	GT:AD:DP:GQ:PL	0/1:60,59:119:99:1470,0,1334	18	0	1	0
chr1	154869854	154869854	-	TGC	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.110_111insGCA:p.Q41_P42insQ,KCNN3:NM_002249:exon1:c.110_111insGCA:p.Q41_P42insQ	.	.	.	.	.	.	.	.	.	.	.	2805989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0067	.	0.0032	0.0059	0.0027	0.0005	0.0053	0.0027	0	0.0043	0.0001153	3	26028	rs754856463	0.0014	0.0014	0.0014	0.0014	0.0038	0.0013	0.0013	0.0033	0.0031	0.0038	0.0014	7.822e-05	0.0014	0.0021	0.0033	0.0012	0.0015	0.0020	0.0020	0.0020	0.0022	0.0018	0.0039	0.0019	0.0018	0.0034	0.0032	0.0039	0	0.0013	0.0003	0.0006	0.0018	0	0.0014	0.0039	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	572.29	39	chr1	154869854	.	T	TTGC	572.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.29;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.44;ReadPosRankSum=-1.245;SOR=0.678	GT:AD:DP:GQ:PL	0/1:13,15:28:99:586,0,500	18	0	1	0
chr1	155034676	155034676	C	T	exonic	DCST1	.	nonsynonymous SNV	DCST1:NM_152494:exon4:c.C211T:p.P71S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.00994963657953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.14894	T	0.295	0.23097	T	0.959	0.55135	D	0.556	0.49411	P	0.002220	0.37012	N	0.116386	0.793072	0.81001	D	2.395	0.69210	M	2.06	0.20959	T	-1.73	0.46146	N	0.692	0.70263	-1.0822	0.06927	T	0.048	0.20355	T	10	0.74830383	0.75449	D	0.00995	0.25901	T	0.213	0.50496	0.581	0.70733	0.397838977388	0.39401	0.24157665069327658	0.24071	0.405224868768	0.41417	0.595753490925	0.52305	T	0.032224	0.22391	T	-0.10672	0.35311	T	-0.391072	0.34425	T	0.978861808776855	0.72539	D	0.810019	0.46084	T	0.10708176	0.25320	0.11136674	0.26864	0.10708176	0.25320	0.11136674	0.26863	-5.856	0.45960	T	.	.	0.317	0.54294	B	.;.	.;.	4.317390	0.66045	24.9	0.99813922475788497	0.89708	0.78146	0.38512	D	AEFBHCI	0.534641	0.55360	D	0.336957077030078	0.58054	3.975628	0.360264638631763	0.59129	4.08818	0.996212300797078	0.34598	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.62	4.62	0.56946	4.028000	0.56957	5.912000	0.51036	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	12.837	0.57164	253	0.90069	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1825.33	42	chr1	155034676	.	C	T	1825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=823;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.134;SOR=0.685	GT:AD:DP:GQ:PL	0/1:68,70:138:99:1839,0,1694	18	0	1	0
chr1	155478043	155478043	A	C	exonic	ASH1L	.	nonsynonymous SNV	ASH1L:NM_001366177:exon3:c.T4827G:p.S1609R,ASH1L:NM_018489:exon3:c.T4827G:p.S1609R	.	8	1506	8	0	0	8	0.00264901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.0893748216968	.	.	8.241e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs763693444	4.104e-06	4.104e-06	4.084e-06	4.125e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	1.656e-05	5.797e-05	6.572e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.02	0.58613	D	0.995	0.70673	D	0.795	0.63802	P	0.000015	0.62929	D	0.121556	0.985098	0.40235	D	0.55	0.14455	N	-2.63	0.90083	D	-1.22	0.30964	N	0.745	0.74462	0.500	0.90542	D	0.645	0.87602	D	10	0.49624738	0.61283	T	0.089375	0.75316	D	0.460	0.75755	0.184	0.09259	0.940097724671	0.93947	0.6769130232204704	0.67630	0.837879280182	0.67888	0.755218982697	0.75219	T	0.030979	0.21832	T	0.189428	0.72912	D	0.215852	0.83966	D	0.614594195249311	0.36986	D	0.89531	0.63576	D	0.5856982	0.71918	0.6192398	0.77825	0.5856982	0.71919	0.6192398	0.77826	-4.499	0.31356	T	.	.	0.988	0.93093	P	.;.	.;.	4.286558	0.65338	24.8	0.99824538956006681	0.90677	0.94109	0.60139	D	AEFBCI	0.667932	0.63588	D	0.543783098921376	0.69705	5.394989	0.597048953758448	0.74726	6.186561	0.999983761723426	0.51787	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	6.596000	0.73995	7.116000	0.57581	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.325	0.73860	51	0.97631	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1454.33	82	chr1	155478043	.	A	C	1454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.945;DP=824;ExcessHet=0;FS=1.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.39;SOR=0.573	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1468,0,1072	18	0	1	0
chr1	156652718	156652718	G	T	exonic	BCAN	.	nonsynonymous SNV	BCAN:NM_021948:exon8:c.G1768T:p.G590C,BCAN:NM_198427:exon8:c.G1768T:p.G590C	.	8	1498	15	1	0	17	0.00564222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0121925681322	7.7e-05	0.000199681	0.0002	0	8.667e-05	0	0	0.0001	0.0011	0.0009	0.0001617	25	154602	rs369853236	0.0001	0.0001	7.932e-05	0.0001	0.0010	0.0001	9.409e-05	0.0008	0.0008	3.012e-05	2.264e-05	0.0007	0	0	0.0007	3.707e-05	0.0003	0.0010	6.566e-05	6.562e-05	6.425e-05	6.714e-05	0.0004	3.514e-05	2.614e-05	7.29e-05	3.029e-05	0	0	6.534e-05	0.0003	0	0	0	7.351e-05	0.0005	0.0004	0.015	0.72154	D	0.074	0.47581	T	0.369	0.57599	B	0.022	0.51870	B	0.336996	0.14023	N	0.590261	0.715889	0.30020	N	0	0.06538	N	2.44	0.15145	T	2.08	0.00371	N	0.201	0.22228	-1.0508	0.14175	T	0.018	0.07659	T	10	0.019789904	0.00447	T	0.012193	0.30540	T	0.107	0.30369	.	.	0.467416895013	0.46368	0.3839416462880603	0.38309	0.27292665473	0.29804	0.428180038929	0.28960	T	0.090346	0.38566	T	-0.492161	0.00632	T	-0.54033	0.18263	T	0.116904978384697	0.14123	T	0.671933	0.28057	T	0.144664	0.33196	0.11347958	0.27388	0.144664	0.33196	0.11347958	0.27388	-10.323	0.75823	D	.	.	0.171	0.38605	B	.;.	.;.	4.610645	0.73108	25.9	0.99563982787463123	0.71953	0.10136	0.15725	N	AEFBCI	0.477879	0.52068	N	-0.0411888931683961	0.39997	2.367872	0.0425575121128312	0.41713	2.510708	0.999999991662722	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.29	4.29	0.50359	5.845000	0.69157	6.457000	0.55686	0.676000	0.76740	0.745000	0.29079	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	13.583	0.61378	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2849.83	34	chr1	156652718	.	G	T	2849.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.82;DP=914;ExcessHet=0.119;FS=3.694;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.896;SOR=0.947	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1342,0,1399	17	0	2	0
chr1	156930528	156930528	G	C	splicing	LRRC71	NM_144702:exon12:c.1241-1G>C	.	.	.	423	1087	11	1	0	13	0.00594422	1.0000	0.948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00379393	0.0070	0.0008	0.0040	0	0	0.0032	0.0038	0.0163	0.0020957	324	154602	rs147334331	0.0028	0.0028	0.0025	0.0032	0.0153	0.0028	0.0027	0.0146	0.0143	0.0003	0.0010	0.0028	0	0.0006	0.0039	0.0023	0.0023	0.0153	0.0018	0.0018	0.0016	0.0019	0.0151	0.0016	0.0015	0.0123	0.0113	0.0003	0	0.0008	0.0043	0	0.0006	0	0.0023	0	0.0151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.101625	0.36157	T	0.0935698	0.76483	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.960962	0.94191	33	0.9949467236067302	0.67687	0.84566	0.43649	D	AEFBCI	.	.	.	1.00135432233439	0.95784	13.96329	0.831559637646466	0.91895	11.12489	0.999999971560932	0.74766	0.080785	0.02172	0	0.109994	0.03358	0	0.059349	0.00372	0	0.10565	0.03146	0	0.973784	0.76300	5.29	5.29	0.74430	2.501000	0.45049	9.733000	0.81406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	14.303	0.65922	432	0.80690	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1324.33	41	chr1	156930528	.	G	C	1324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.097;DP=736;ExcessHet=0;FS=5.165;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-0.147;SOR=1.244	GT:AD:DP:GQ:PL	0/1:44,52:96:99:1338,0,1108	18	0	1	0
chr1	158717620	158717620	G	C	exonic	OR6K3	.	nonsynonymous SNV	OR6K3:NM_001005327:exon1:c.C496G:p.L166V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00590346901286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.36509	T	0.05	0.48855	T	0.998	0.73220	D	0.974	0.73157	D	.	.	.	.	1	0.08975	N	2.225	0.63025	M	8.3	0.00261	T	-2.91	0.60982	D	0.353	0.40565	-0.9559	0.39934	T	0.001	0.00287	T	9	0.29009947	0.46590	T	0.005903	0.15371	T	0.059	0.16972	0.454	0.51775	0.541105671861	0.53764	0.09983427110864787	0.09914	0.272298806262	0.29743	0.241298228502	0.02908	T	0.010159	0.09196	T	-0.253451	0.13678	T	-0.601841	0.12658	T	0.869751214981079	0.51968	D	0.842116	0.51841	T	0.20199443	0.42229	0.2288443	0.47939	0.20199443	0.42229	0.2288443	0.47937	-6.632	0.51297	T	.	.	0.156	0.37839	B	.;.	.;.	1.948660	0.24753	16.51	0.99506628095645056	0.68381	0.14158	0.18254	N	AEFDBI	0.136036	0.25657	N	-0.0838528558431567	0.38100	2.226371	-0.316427025188347	0.27567	1.530624	0.184603237715748	0.17918	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.04	1.11	0.19640	0.266000	0.18300	-1.548000	0.05195	-0.187000	0.09635	0.006000	0.17386	0.000000	0.08366	0.561000	0.30436	0.2631:0.0:0.7369:0.0	8.418	0.31845	702	0.57624	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2612.33	34	chr1	158717620	.	G	C	2612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=980;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-1.007;SOR=0.693	GT:AD:DP:GQ:PL	0/1:93,93:186:99:2626,0,2676	18	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	3525.44	257	chr1	161048864	.	C	G	3525.44	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-5.652;DP=3787;ExcessHet=11.1788;FS=204.532;InbreedingCoeff=-0.4729;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.07;SOR=13.483	GT:AD:DP:GQ:PL	0/1:167,49:222:99:202,0,3671	7	0	12	0
chr1	166846697	166846697	G	A	exonic	POGK	.	nonsynonymous SNV	POGK:NM_017542:exon3:c.G218A:p.R73Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0164892652521	0.0022	0.000798722	0.0017	0.0009	0.0005	0	0.0023	0.0025	0	0.0001	0.0017529	271	154602	rs144284216	0.0022	0.0022	0.0022	0.0022	0.0027	0.0022	0.0022	0.0027	0.0026	0.0002	0.0005	0	0	0.0013	0.0002	0.0027	0.0018	6.956e-05	0.0018	0.0018	0.0018	0.0018	0.0032	0.0016	0.0016	0.0028	0.0027	0.0006	0	0.0010	0	0	0.0016	0	0.0032	0.0014	0	0.032	0.44694	D	0.014	0.92824	D	0.865	0.47557	P	0.497	0.47562	P	0.000518	0.43753	D	0.000000	0.551606	0.81001	D	1.675	0.43121	L	4.24	0.02590	T	-1.77	0.41809	N	0.532	0.56058	-0.7707	0.56820	T	0.005	0.01833	T	9	0.00979054	0.00220	T	0.016489	0.37771	T	0.161	0.41658	.	.	0.521320446786	0.51775	0.6042994188650999	0.60360	2.09199961885	0.94731	0.538857281208	0.44283	T	0.047353	0.27697	T	-0.292886	0.09349	T	-0.195593	0.55063	T	0.0460906551652682	0.04800	T	0.889711	0.62218	D	0.06749284	0.14622	0.070924215	0.15127	0.06749284	0.14621	0.070924215	0.15126	-5.596	0.42755	T	.	.	0.213	0.44108	B	.;.;.	.;.;.	4.788480	0.77679	26.7	0.9995638966343765	0.99975	0.68850	0.33959	D	AEFDBCI	0.180561	0.30787	N	0.19350849307554	0.50887	3.274571	0.227393773237352	0.51374	3.320374	0.996198018553756	0.34585	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.85	3.93	0.44666	1.939000	0.39841	6.592000	0.56029	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0909:0.0:0.9091:0.0	10.996	0.46790	610	0.67008	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1276.33	33	chr1	166846697	.	G	A	1276.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.101;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.313;SOR=0.666	GT:AD:DP:GQ:PL	0/1:71,58:129:99:1290,0,1628	18	0	1	0
chr1	167128195	167128195	T	C	exonic	STYXL2	.	nonsynonymous SNV	STYXL2:NM_001080426:exon6:c.T3064C:p.S1022P	.	437	1083	2	0	0	2	0.000922509	.	.	.	2431338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.0146970702915	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs148333266	5.951e-05	5.951e-05	5.989e-05	5.913e-05	0.0014	4.882e-05	4.561e-05	0.0007	0.0005	0	2.236e-05	0	0	1.872e-05	0.0014	6.565e-05	4.967e-05	1.159e-05	4.597e-05	4.594e-05	3.854e-05	5.374e-05	7.351e-05	2.108e-05	1.526e-05	2.847e-05	1.858e-05	2.406e-05	0	0	0	0	0	0.0034	7.351e-05	0	0	0.002	0.72154	D	0.032	0.53426	D	0.995	0.67487	D	0.795	0.57940	P	0.000122	0.49741	D	0.000000	0.918437	0.27350	N	2.48	0.72069	M	3.86	0.03624	T	-0.81	0.22294	N	0.318	0.50418	-1.0494	0.14565	T	0.014	0.05369	T	10	0.17488647	0.32391	T	0.014697	0.34987	T	0.112	0.31546	.	.	0.455996456696	0.45225	0.2675631160248488	0.26669	0.111640583288	0.12603	0.410389125347	0.26510	T	0.006335	0.05765	T	-0.237535	0.15665	T	-0.323933	0.42143	T	0.211474291641061	0.21030	T	0.629737	0.24459	T	0.29610345	0.52553	0.27956274	0.53926	0.29610345	0.52553	0.27956274	0.53925	-6.987	0.53939	T	.	.	0.233	0.46574	B	.;.;.	.;.;.	3.684530	0.52465	23.2	0.99458808734358273	0.65684	0.86859	0.46234	D	AEFDBI	0.717467	0.66897	D	0.409752272845986	0.61959	4.40419	0.363038919250369	0.59297	4.106316	0.973917746753734	0.29497	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.42	5.42	0.78666	2.250000	0.42831	7.824000	0.69857	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.2771:0.0:0.0:0.7229	9.187	0.36335	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2978.33	46	chr1	167128195	.	T	C	2978.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.394;DP=1113;ExcessHet=0;FS=3.57;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.631;SOR=0.734	GT:AD:DP:GQ:PL	0/1:129,113:242:99:2992,0,3309	18	0	1	0
chr1	171566360	171566360	T	C	exonic	PRRC2C	.	nonsynonymous SNV	PRRC2C:NM_015172:exon21:c.T6239C:p.I2080T	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00782850494166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.769e-06	2.736e-06	1.374e-06	4.186e-06	0.0005	6.5e-07	4.4e-07	0.0001	7.573e-05	0	0	0	0	0	0.0005	0	1.67e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.39575	T	0.053	0.47336	T	0.001	0.07471	B	0.005	0.11217	B	0.073806	0.21322	N	0.332317	0.99924	0.21461	N	0	0.06538	N	4.54	0.01963	T	-1.36	0.33798	N	0.159	0.25499	-0.9535	0.40363	T	0.017	0.06950	T	10	0.09419575	0.16730	T	0.007829	0.20773	T	0.083	0.24192	0.227	0.15257	0.043077524339	0.03247	0.1313112341097066	0.13056	0.68278988503	0.60132	0.506373226643	0.39716	T	0.023953	0.18193	T	-0.24513	0.14701	T	-0.589889	0.13676	T	0.151822441446265	0.17248	T	0.853415	0.53896	D	.	.	.	.	.	.	.	.	-3.568	0.17395	T	.	.	.	.	.	.;.;.	.;.;.	3.266928	0.44703	22.0	0.74231783809482355	0.10619	0.89858	0.50600	D	AEBCI	0.314259	0.41917	N	-0.495006126508344	0.22244	1.186358	-0.492874595323712	0.22349	1.213465	0.709325210844203	0.22799	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.97	2.65	0.30588	4.752000	0.61873	2.887000	0.35366	-0.120000	0.14102	0.999000	0.42656	1.000000	0.68203	0.331000	0.25224	0.0:0.1505:0.0:0.8495	9.107	0.35862	368	0.84463	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1051.33	33	chr1	171566360	.	T	C	1051.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.774;SOR=0.728	GT:AD:DP:GQ:PL	0/1:51,43:94:99:1065,0,1248	18	0	1	0
chr1	173938810	173938810	T	C	exonic	RC3H1	.	nonsynonymous SNV	RC3H1:NM_001300850:exon19:c.A3316G:p.S1106G,RC3H1:NM_001300851:exon19:c.A3289G:p.S1097G,RC3H1:NM_001300852:exon19:c.A3286G:p.S1096G,RC3H1:NM_172071:exon20:c.A3313G:p.S1105G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.00572657775482	.	.	8.239e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs766024336	8.211e-06	8.209e-06	1.362e-06	1.513e-05	0.0001	4.38e-06	3.46e-06	7.999e-05	6.238e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.029	0.58613	D	0.0	0.02946	B	0.0	0.01387	B	0.000021	0.62929	D	0.187317	0.835679	0.28700	N	0.55	0.14455	N	0.74	0.50721	T	-1.27	0.32185	N	0.077	0.22870	-1.0712	0.09151	T	0.029	0.12585	T	10	0.05720681	0.06534	T	0.005727	0.14862	T	0.113	0.31778	0.145	0.04843	0.4147015802	0.41088	0.15893310618103793	0.15814	0.287918106195	0.31194	0.35464066267	0.18602	T	0.112932	0.42958	T	-0.331695	0.05984	T	-0.51158	0.21152	T	0.237698271870613	0.22313	T	0.756024	0.38984	T	0.111738905	0.26403	0.123720296	0.29830	0.111738905	0.26402	0.123720296	0.29829	-5.401	0.41905	T	.	.	0.077	0.11510	B	.;.;.	.;.;.	2.694240	0.35175	19.83	0.99066275476843424	0.51621	0.69900	0.34372	D	AEFBI	0.073559	0.14716	N	-0.335858679884116	0.27796	1.52788	-0.164319012307656	0.32860	1.873795	0.794852906974327	0.24080	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.82	2.04	0.25787	0.485000	0.22033	1.595000	0.27551	0.665000	0.62972	0.989000	0.36753	1.000000	0.68203	0.999000	0.91618	0.1668:0.2828:0.0:0.5504	3.767	0.08150	165	0.93588	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	352.33	40	chr1	173938810	.	T	C	352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.556;DP=674;ExcessHet=0;FS=6.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=-0.462;SOR=1.679	GT:AD:DP:GQ:PL	0/1:34,18:52:99:366,0,822	18	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	18693.2	75	chr1	175160810	.	C	*	18693.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.04;DP=1448;ExcessHet=1.8686;FS=0.62;InbreedingCoeff=-0.0857;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=1.21;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,38:77:99:1|0:175160788_C_CCTT:1377,0,1432:175160788	9	2	8	0
chr1	180014368	180014368	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1915C:p.A639P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.162960905331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.938e-07	2.052e-05	0	1.399e-06	9.079e-07	0	0	.	.	0	0	0	0	0	0	9.079e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.073	0.43159	T	0.726	0.42471	P	0.533	0.48638	P	0.000175	0.48594	D	0.000000	0.999949	0.51968	D	2.485	0.72352	M	-2.59	0.89822	D	-2.36	0.52128	N	0.8	0.79599	0.412	0.89271	D	0.732	0.90833	D	9	0.72775644	0.74088	D	0.162961	0.84241	D	0.533	0.80367	0.183	0.09131	0.719831743072	0.71736	0.3087313756742884	0.30786	0.461430799888	0.45681	0.556343972683	0.46751	T	0.023507	0.17932	T	0.312031	0.83897	D	0.210434	0.83688	D	0.951117602773591	0.63488	D	0.90031	0.65351	D	0.6567444	0.75724	0.748747	0.85149	0.6567444	0.75725	0.748747	0.85149	-9.817	0.72809	D	.	.	0.933	0.85246	P	.	.	4.491660	0.70175	25.5	0.99786338097325844	0.87219	0.99185	0.92484	D	AEFBI	0.884800	0.81480	D	0.554747268834377	0.70372	5.491825	0.618703708997397	0.76297	6.465375	0.999999999874702	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	7.646000	0.82603	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.239	0.93860	185	0.92771	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	81.3	84	chr1	180014368	.	G	C	81.3	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.953;DP=1628;ExcessHet=0.3672;FS=503.697;InbreedingCoeff=-0.1603;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.3;ReadPosRankSum=1.12;SOR=9.49	GT:AD:DP:GQ:PL	0/1:69,24:95:6:6,0,1690	12	0	3	4
chr1	181651376	181651376	C	G	exonic	CACNA1E	.	stopgain	CACNA1E:NM_000721:exon7:c.C990G:p.Y330X,CACNA1E:NM_001205293:exon7:c.C990G:p.Y330X,CACNA1E:NM_001205294:exon7:c.C990G:p.Y330X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	9.176e-05	0	0	0	0	0	0.0002	0.0002	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000152	0.49130	D	0.184301	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.813	0.80964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.;.	.;.;.;.;High;.;.;.;.	7.541588	0.96621	36	0.99781923951723206	0.86867	0.94030	0.59902	D	AEFDBI	0.321650	0.42439	N	0.624659178573725	0.74736	6.183878	0.466905708948269	0.65809	4.871025	0.999982252266257	0.51787	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.12	3.16	0.35406	1.546000	0.35787	1.050000	0.23629	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8307:0.0:0.1693	10.219	0.42363	702	0.57624	Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	32.68	119	chr1	181651376	.	C	G	32.68	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.647;DP=1941;ExcessHet=0.119;FS=277.081;InbreedingCoeff=-0.2222;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.13;ReadPosRankSum=0.635;SOR=10.048	GT:AD:DP:GQ:PL	0/1:79,24:103:36:36,0,1488	7	0	2	10
chr1	202730940	202730940	C	T	exonic	KDM5B	.	nonsynonymous SNV	KDM5B:NM_001347591:exon24:c.G4010A:p.R1337Q,KDM5B:NM_006618:exon25:c.G4145A:p.R1382Q,KDM5B:NM_001314042:exon26:c.G4253A:p.R1418Q	.	428	1091	3	0	0	3	0.001373	.	.	.	576079	not_provided|KDM5B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.071	0.0167540152082	0.0038	0.00139776	0.0037	0.0018	0.0010	0.0001	0.0006	0.0057	0.0011	0.0020	0.0039456	610	154602	rs34216958	0.0061	0.0061	0.0064	0.0059	0.0075	0.0060	0.0060	0.0074	0.0073	0.0011	0.0018	0.0014	0	0.0012	0.0014	0.0075	0.0039	0.0017	0.0040	0.0040	0.0045	0.0035	0.0071	0.0037	0.0036	0.0066	0.0064	0.0009	0	0.0038	0.0009	0	0.0011	0	0.0071	0.0038	0.0010	0.324	0.14352	T	0.409	0.14588	T	0.017	0.17573	B	0.002	0.06944	B	0.053790	0.22778	N	0.505538	0.999992	0.08975	N	1.085	0.27262	L	-1.91	0.85799	D	-0.61	0.19509	N	0.061	0.03283	-0.8549	0.51627	T	0.269	0.64003	T	10	0.0034817755	0.00062	T	0.016754	0.38152	T	0.071	0.20720	.	.	0.30921473904	0.30521	0.11947249611815194	0.11874	0.250522654818	0.27623	0.203748896718	0.00573	T	0.014878	0.12581	T	-0.421113	0.01682	T	-0.368281	0.37088	T	0.00863609035805215	0.00106	T	0.825917	0.48908	T	0.039414942	0.05437	0.03619225	0.03018	0.051013786	0.09304	0.043035153	0.05262	-3.88	0.22002	T	.	.	0.067	0.03625	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.278119	0.29126	18.02	0.98615314728492864	0.43704	0.59927	0.31051	D	AEFBI	0.057433	0.10696	N	-0.671129279040302	0.16848	0.8619567	-0.576486092526582	0.20106	1.081807	0.0616005664158077	0.15236	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.04	1.08	0.19456	0.908000	0.28167	0.581000	0.19707	0.599000	0.40250	0.848000	0.30412	0.639000	0.25905	0.988000	0.63387	0.0:0.5485:0.0:0.4515	10.220	0.42369	411	0.82069	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2048.33	33	chr1	202730940	.	C	T	2048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.233;DP=795;ExcessHet=0;FS=4.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.349;SOR=1.037	GT:AD:DP:GQ:PL	0/1:96,83:179:99:2062,0,2434	18	0	1	0
chr1	203007485	203007485	C	T	exonic	TMEM183A	.	nonsynonymous SNV	TMEM183A:NM_001322955:exon1:c.C20T:p.P7L,TMEM183A:NM_001322956:exon1:c.C20T:p.P7L,TMEM183A:NM_001322957:exon1:c.C20T:p.P7L,TMEM183A:NM_001322958:exon1:c.C20T:p.P7L,TMEM183A:NM_001322959:exon1:c.C20T:p.P7L,TMEM183A:NM_138391:exon1:c.C20T:p.P7L	.	396	1104	20	2	0	24	0.0107527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	0.00119808	0.0041	0	0	0	0	0.0164	0	0.0005	0.0008409	130	154602	rs555362119	0.0024	0.0024	0.0025	0.0024	0.0094	0.0024	0.0023	0.0070	0.0061	0.0005	0.0026	0.0087	0	0.0005	0.0094	0.0025	0.0032	0.0010	0.0020	0.0020	0.0022	0.0018	0.0032	0.0019	0.0018	0.0029	0.0027	0.0004	0	0.0025	0.0069	0	0.0004	0.0034	0.0032	0.0024	0.0006	0.181	0.21884	T	1.0	0.01155	T	0.104	0.25941	B	0.016	0.17743	B	0.033671	0.24868	N	0.345767	0.937347	0.37187	D	1.7	0.43825	L	1.99	0.21666	T	0.45	0.03191	N	0.135	0.13198	-1.0641	0.10760	T	0.035	0.15204	T	10	0.0024991632	0.00038	T	.	.	.	0.020	0.03691	.	.	0.043077524339	0.03247	0.29244569523384223	0.29157	0.580504772415	0.53893	0.685403227806	0.65045	T	0.002292	0.01691	T	-0.518279	0.00450	T	-0.517768	0.20522	T	0.0203897621880027	0.00739	T	0.625537	0.24174	T	0.057242885	0.11366	0.08569887	0.19806	0.057242885	0.11365	0.08569887	0.19805	-3.668	0.18847	T	.	.	0.106	0.19679	B	.	.	2.553262	0.33055	19.23	0.98683186201359852	0.44652	0.72577	0.35519	D	AEFGBHCIJ	0.253901	0.37331	N	-0.264791343754043	0.30517	1.702362	-0.145346773158669	0.33587	1.922862	0.999999999999963	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.82	3.88	0.43959	1.768000	0.38141	1.921000	0.29710	0.525000	0.24333	0.461000	0.26652	0.944000	0.28851	0.940000	0.48062	0.1789:0.8211:0.0:0.0	12.053	0.52813	754	0.51307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003289	0.011765	0.004360	0.003378	0.000000	0.000000	0.000000	0.003937	0.02632	448.33	20	chr1	203007485	.	C	T	448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.929;DP=642;ExcessHet=0;FS=2.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.84;MQRankSum=-1.001;QD=10.19;ReadPosRankSum=-0.576;SOR=0.836	GT:AD:DP:GQ:PL	0/1:23,21:44:99:462,0,483	18	0	1	0
chr1	204113073	204113073	G	A	exonic	SOX13	.	nonsynonymous SNV	SOX13:NM_005686:exon2:c.G158A:p.R53Q	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0648361156284	8.3e-05	.	0.0004	0.0002	0	0.0003	0	0	0	0.0022	0.0001617	25	154602	rs371454083	0.0001	0.0001	7.681e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	2.35e-05	0	0.0001	1.933e-05	0	1.266e-05	8.34e-05	0.0018	5.912e-05	5.909e-05	7.707e-05	4.034e-05	0.0012	3.077e-05	2.21e-05	0.0005	0.0004	4.825e-05	0	0	0	0	0	0	1.47e-05	0	0.0012	0.385	0.11586	T	0.382	0.34837	T	0.001	0.07471	B	0.001	0.04355	B	0.107047	0.19587	N	0.547474	0.999947	0.19238	N	0.895	0.22405	L	-4.6	0.97849	D	-0.07	0.25332	N	0.04	0.01421	0.139	0.84868	D	0.807	0.93479	D	10	0.010506481	0.00233	T	0.064836	0.69397	D	0.213	0.50496	.	.	0.276254252017	0.27237	0.10975865628635467	0.10904	0.030132702839	0.03106	0.264214992523	0.05403	T	0.11939	0.44087	T	-0.299232	0.08733	T	-0.232682	0.51511	T	0.0208725498531917	0.00788	T	0.708429	0.31914	T	0.040239085	0.05706	0.0312084	0.01678	0.040239085	0.05706	0.0312084	0.01677	-3.972	0.23383	T	.	.	0.070	0.04599	B	.;.;.;.	.;.;.;.	1.550253	0.19867	14.48	0.97019908506642427	0.32022	0.56559	0.30148	D	AEFDGBCI	0.130315	0.24882	N	-0.632896554588542	0.17962	0.9287601	-0.534519454414149	0.21218	1.146793	0.999962204161626	0.48965	0.722319	0.85440	0	0.615948	0.52940	0	0.698795	0.65105	0	0.669	0.65921	0	.	.	5.68	2.31	0.27816	1.525000	0.35560	0.652000	0.20426	-0.182000	0.10109	0.773000	0.29391	0.122000	0.22912	0.498000	0.28972	0.1789:0.0:0.6204:0.2007	5.284	0.15002	861	0.33516	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1190.33	40	chr1	204113073	.	G	A	1190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=793;ExcessHet=0;FS=0.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-2.402;SOR=0.606	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1204,0,1006	18	0	1	0
chr1	205321589	205321589	G	A	exonic	NUAK2	.	nonsynonymous SNV	NUAK2:NM_030952:exon1:c.C40T:p.P14S	.	407	1111	4	0	0	4	0.00179695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.033924939528	0.0012	0.000599042	0.0012	0.0004	0.0012	0	0.0003	0.0019	0.0024	0.0001	0.0010737	166	154602	rs141798870	0.0013	0.0013	0.0013	0.0013	0.0014	0.0013	0.0012	0.0013	0.0013	0.0002	0.0011	0.0087	0	0.0003	0.0005	0.0014	0.0014	0.0002	0.0011	0.0011	0.0012	0.0010	0.0016	0.0010	0.0009	0.0014	0.0013	0.0002	0	0.0010	0.0089	0	0.0007	0	0.0016	0.0009	0.0002	.	.	.	0.307	0.19908	T	.	.	.	.	.	.	0.279581	0.14971	N	0.489185	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.144	0.14480	-1.0330	0.19490	T	0.133	0.44484	T	10	0.00708586	0.00161	T	0.033925	0.55325	D	0.079	0.23065	.	.	0.396645960531	0.39282	0.48684910276064347	0.48604	1.03614068546	0.75603	0.50908613205	0.40094	T	.	.	.	-0.546356	0.00307	T	-0.582206	0.14350	T	0.000523398397490382	0.00004	T	0.450155	0.12692	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.501420	0.08704	5.478	0.90673802851986074	0.19925	0.06322	0.12319	N	AEFDGBHCI	0.035200	0.04490	N	-1.24927805647652	0.04310	0.1942356	-1.25982879039081	0.04987	0.2365901	0.999999999748159	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	4.77	-1.05	0.09523	0.094000	0.14946	-0.054000	0.12508	-0.227000	0.07798	0.001000	0.13787	0.092000	0.22550	0.110000	0.18741	0.5133:0.1914:0.2953:0.0	4.629	0.11877	797	0.45241	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1373.33	34	chr1	205321589	.	G	A	1373.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.189;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-1.427;SOR=0.706	GT:AD:DP:GQ:PL	0/1:38,51:89:99:1387,0,1027	18	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G,DTL:NM_001286230:exon13:c.A1244G:p.D415G,DTL:NM_016448:exon14:c.A1370G:p.D457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	930.87	95	chr1	212100360	.	A	G	930.87	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.957;DP=2027;ExcessHet=4.0268;FS=98.304;InbreedingCoeff=-0.2734;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.44;SOR=10.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,14:105:99:0|1:212100360_A_G:114,0,3663:212100360	11	0	8	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E,DTL:NM_001286230:exon13:c.C1245G:p.D415E,DTL:NM_016448:exon14:c.C1371G:p.D457E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	937.38	80	chr1	212100361	.	C	G	937.38	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-3.466;DP=1965;ExcessHet=4.0268;FS=98.435;InbreedingCoeff=-0.3233;MLEAC=9;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.49;SOR=10.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,14:105:99:0|1:212100360_A_G:114,0,3663:212100360	10	0	8	1
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V,DTL:NM_001286230:exon13:c.C1246G:p.L416V,DTL:NM_016448:exon14:c.C1372G:p.L458V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	881.54	71	chr1	212100362	.	C	G	881.54	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-4.876;DP=1669;ExcessHet=2.9153;FS=98.304;InbreedingCoeff=-0.2277;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=1.65;SOR=8.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,14:105:99:0|1:212100360_A_G:114,0,3663:212100360	12	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	441.37	57	chr1	220154029	.	G	C	441.37	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-2.586;DP=1759;ExcessHet=8.9063;FS=228.055;InbreedingCoeff=-0.3733;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=-0.074;SOR=12.31	GT:AD:DP:GQ:PL	0/1:60,22:84:10:10,0,750	8	0	11	0
chr1	220787130	220787130	G	C	exonic	MTARC1	.	nonsynonymous SNV	MTARC1:NM_022746:exon1:c.G186C:p.W62C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.362785205848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.157	0.31730	T	0.117	0.26519	B	0.142	0.33681	B	0.111138	0.19413	N	0.444597	0.998372	0.44834	D	2.15	0.60148	M	1.55	0.29866	T	-4.08	0.74742	D	0.312	0.35194	-1.0770	0.07942	T	0.066	0.27225	T	10	0.36707595	0.53185	T	0.362785	0.92553	D	0.144	0.38394	0.734	0.86719	0.170165803431	0.16609	0.8484784232540111	0.84808	0.28682199185	0.31076	0.7751557827	0.78197	T	0.049593	0.28350	T	-0.10793	0.35110	T	-0.392811	0.34223	T	0.239337927848759	0.22389	T	0.784022	0.42156	T	0.55251986	0.70096	0.54680103	0.73801	0.55251986	0.70097	0.54680103	0.73801	-5.847	0.44982	T	.	.	0.354	0.56857	A	.	.	2.679030	0.34943	19.77	0.87675545217483863	0.17399	0.48234	0.28161	N	ALL	0.112844	0.22289	N	-0.40328900409	0.25353	1.375684	-0.327980958516355	0.27198	1.507577	0.999999981478678	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.52208	0.10781	0	0.56751	0.32155	0	.	.	4.14	2.16	0.26663	0.335000	0.19546	2.432000	0.32735	0.618000	0.50648	0.997000	0.40164	1.000000	0.68203	0.986000	0.61781	0.0:0.3652:0.4956:0.1391	9.448	0.37876	547	0.72440	MOSC, N-terminal beta barrel	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	694.33	28	chr1	220787130	.	G	C	694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.097;SOR=0.689	GT:AD:DP:GQ:PL	0/1:36,27:63:99:708,0,926	18	0	1	0
chr1	222629343	222629343	C	T	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.C2123T:p.T708I,MIA3:NM_001324063:exon4:c.C2123T:p.T708I,MIA3:NM_198551:exon4:c.C2123T:p.T708I,MIA3:NM_001324064:exon5:c.C1631T:p.T544I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00398614837878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.22486	T	0.133	0.34359	T	0.035	0.20614	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	3.68	0.04151	T	-1.18	0.30140	N	0.12	0.11054	-0.9229	0.45155	T	0.010	0.03537	T	9	0.04711473	0.03987	T	0.003986	0.09431	T	0.016	0.02506	0.106	0.01810	0.264547087235	0.26054	0.044694691070665704	0.04413	0.0599564255343	0.06670	0.256598472595	0.04493	T	0.004307	0.03719	T	-0.322401	0.06703	T	-0.700883	0.05777	T	0.0887900310910653	0.11073	T	0.483852	0.14720	T	0.03736358	0.04777	0.033586625	0.02279	0.03736358	0.04777	0.033586625	0.02279	-4.099	0.25275	T	.	.	0.128	0.27403	B	.	.	0.433922	0.08043	4.764	0.80069739699738618	0.13030	0.14118	0.18232	N	AEFBCI	0.054600	0.09940	N	-0.975823311918019	0.09121	0.4304281	-0.989623884788034	0.10017	0.5019194	0.0518658407699046	0.14887	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.79	1.75	0.23707	0.130000	0.15676	-0.379000	0.09554	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2968:0.5404:0.0:0.1628	4.886	0.13058	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1503.33	86	chr1	222629343	.	C	T	1503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.367;DP=1754;ExcessHet=0;FS=0.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.851;SOR=0.79	GT:AD:DP:GQ:PL	0/1:76,63:139:99:1517,0,1922	18	0	1	0
chr1	223609210	223609210	G	A	exonic	CAPN8	.	nonsynonymous SNV	CAPN8:NM_001143962:exon12:c.C1478T:p.P493L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.06e-06	1.59e-06	0	8.011e-06	6.327e-06	0	0	.	.	0	0	0	0	0	0	6.327e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.54584	.	.	.	.	.	.	.	0.7472601	0.75378	D	.	.	.	.	.	.	.	.	.	0.48073306962169565	0.47993	.	.	.	.	.	0.826633	0.95817	D	.	.	.	.	.	.	.	.	.	0.939006	0.77019	D	.	.	.	.	.	.	.	.	-11.195	0.80717	D	.	.	0.391	0.59080	A	.	.	4.186140	0.63061	24.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.883000	0.85762	9.289000	0.79777	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	0.156000	0.20513	.	.	.	906	0.23090	Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	520.33	35	chr1	223609210	.	G	A	520.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.895;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.13;ReadPosRankSum=-0.76;SOR=0.795	GT:AD:DP:GQ:PL	0/1:46,27:73:99:534,0,1173	18	0	1	0
chr1	228245532	228245532	A	G	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon12:c.A3601G:p.K1201E,OBSCN:NM_052843:exon12:c.A3601G:p.K1201E,OBSCN:NM_001271223:exon13:c.A3877G:p.K1293E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.109863792917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.56456	D	0.0	0.92824	D	0.993	0.65571	D	0.886	0.62898	P	0.000000	0.84330	D	0.000000	0.771626	0.81001	D	3.58	0.93551	H	3.13	0.08014	T	-2.73	0.58896	D	0.312	0.35194	-0.7842	0.56065	T	0.103	0.37894	T	10	0.6987478	0.72309	D	0.109864	0.78701	D	0.262	0.57482	0.685	0.82271	0.697657426632	0.69504	0.3885553835063714	0.38770	0.530034928815	0.50556	0.594895243645	0.52183	T	0.226088	0.59101	T	-0.0601028	0.42890	T	-0.32411	0.42122	T	0.951185762882233	0.63504	D	0.951205	0.88585	D	0.5252708	0.68561	0.41243026	0.65446	0.5252708	0.68562	0.41243026	0.65446	-9.794	0.72669	D	.	.	0.756	0.75304	P	.;.;.;.;.	.;.;.;.;.	2.786247	0.36613	20.3	0.79617334186982003	0.12823	0.26145	0.22908	N	AEFBCI	0.680021	0.64386	D	0.612321515397973	0.73952	6.051025	0.468898315439574	0.65940	4.88762	0.938575407908768	0.27349	0.719381	0.83141	0	0.588015	0.36545	0	0.723133	0.82415	0	0.564101	0.26826	0	.	.	4.63	4.63	0.57175	6.970000	0.75885	7.911000	0.74030	0.562000	0.28470	1.000000	0.71638	1.000000	0.68203	0.122000	0.19250	1.0:0.0:0.0:0.0	14.098	0.64561	459	0.78817	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3762.33	33	chr1	228245532	.	A	G	3762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.797;DP=1248;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.576;SOR=0.712	GT:AD:DP:GQ:PL	0/1:185,155:340:99:3776,0,4983	18	0	1	0
chr1	229651283	229651283	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon8:c.G4198A:p.V1400M,URB2:NM_014777:exon8:c.G4198A:p.V1400M	.	429	1062	30	1	0	32	0.0148423	.	.	.	718765	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.146	.	0.0055	0.0061901	0.0073	0.0012	0.0045	0.0001	0.0017	0.0079	0.0134	0.0164	0.007322	1132	154602	rs12142450	0.0075	0.0076	0.0074	0.0077	0.0160	0.0074	0.0074	0.0153	0.0150	0.0014	0.0040	0.0030	0	0.0028	0.0075	0.0078	0.0066	0.0160	0.0051	0.0051	0.0052	0.0050	0.0163	0.0048	0.0047	0.0134	0.0124	0.0016	0	0.0048	0.0029	0.0002	0.0020	0.0137	0.0075	0.0057	0.0163	0.037	0.59928	D	0.015	0.61642	D	0.988	0.62325	D	0.909	0.64565	D	0.002798	0.35935	N	0.300277	0.997342	0.43813	D	2.72	0.79541	M	1.0	0.41392	T	-0.72	0.50337	N	0.359	0.40063	-0.9761	0.35882	T	0.119	0.41691	T	9	0.006525457	0.00148	T	.	.	.	0.146	0.38789	.	.	0.187945064343	0.18414	0.3738495987657628	0.37298	0.345258720488	0.36438	0.27029812336	0.06179	T	0.075909	0.35292	T	-0.411872	0.01931	T	-0.350777	0.39117	T	0.0211395378185626	0.00816	T	0.886711	0.61387	D	0.033498842	0.03579	0.062224187	0.12142	0.033498842	0.03579	0.062224187	0.12141	-4.655	0.32855	T	.	.	0.259	0.49324	B	.;.	.;.	2.609720	0.33888	19.47	0.99700267357857819	0.80591	0.89704	0.50340	D	AEFBI	0.229967	0.35342	N	0.0195449998012908	0.42745	2.581276	-0.0451914890706626	0.37699	2.210879	0.0814482181084177	0.15873	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.78	-0.505	0.11394	1.045000	0.29951	-0.819000	0.07303	-0.153000	0.12021	1.000000	0.71638	0.000000	0.08366	0.990000	0.65344	0.0:0.3209:0.387:0.2922	10.548	0.44261	508	0.75398	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.000000	0.004076	0.005848	0.000000	0.017241	0.015244	0.018939	0.02632	900.33	33	chr1	229651283	.	G	A	900.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.209;DP=721;ExcessHet=0;FS=1.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.326;SOR=0.917	GT:AD:DP:GQ:PL	0/1:53,40:93:99:914,0,1289	18	0	1	0
chr1	240207756	240207821	CCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.2944_3009del:p.A1083_G1104del,FMN2:NM_001305424:exon6:c.2956_3021del:p.A1087_G1108del	Mental retardation, autosomal recessive 47, Autosomal recessive	612	898	2	0	10	12	0.00111235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171	0.0155	0.0051	0.0004	0.0179	0.0181	0.0172	0.0336	0.0004995	13	26028	.	0.0033	0.0039	0.0033	0.0034	0.0057	0.0033	0.0032	0.0052	0.0050	0.0025	0.0018	0.0026	0.0002	0.0037	0.0041	0.0034	0.0034	0.0057	0.0009	0.0052	0.0008	0.0010	0.0020	0.0007	0.0006	0.0007	0.0006	0.0011	0.0025	0.0007	0.0006	0	0.0003	0	0.0009	0.0012	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	487.79	108	chr1	240207755	.	ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	A	487.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0;DP=1071;ExcessHet=0.119;FS=1.057;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=54.42;MQRankSum=2.27;QD=7.17;ReadPosRankSum=3.17;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,9:37:99:0|1:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:256,0,1083:240207755	17	0	2	0
chr1	240207775	240207775	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	746	721	41	8	6	63	0.0380254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	2068.68	101	chr1	240207775	.	C	*	2068.68	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-0.766;DP=999;ExcessHet=0.9858;FS=1.859;InbreedingCoeff=0.015;MLEAC=3;MLEAF=0.115;MQ=52.21;MQRankSum=1.95;QD=11.62;ReadPosRankSum=1.79;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,9:37:99:0|1:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:256,0,1083:240207755	11	0	2	6
chr1	240207785	240207785	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2773.08	86	chr1	240207785	.	A	*	2773.08	.	AC=2;AF=0.083;AN=24;BaseQRankSum=2.17;DP=919;ExcessHet=1.1622;FS=5.058;InbreedingCoeff=0.0952;MLEAC=3;MLEAF=0.125;MQ=51.72;MQRankSum=0.612;QD=14.75;ReadPosRankSum=2.3;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,9:37:99:0|1:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:256,0,1083:240207755	10	0	2	7
chr1	240207788	240207788	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1279.48	83	chr1	240207788	.	T	*	1279.48	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.459;DP=884;ExcessHet=0.3672;FS=0.686;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=50.91;MQRankSum=1.45;QD=10.94;ReadPosRankSum=-0.302;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,9:37:99:0|1:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:256,0,1083:240207755	17	0	2	0
chr1	240207797	240207797	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	935	562	18	1	6	26	0.0174825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	578.26	74	chr1	240207797	.	G	*	578.26	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-0.636;DP=794;ExcessHet=0.4742;FS=2.654;InbreedingCoeff=0.0863;MLEAC=3;MLEAF=0.115;MQ=52.11;MQRankSum=-0.042;QD=5.16;ReadPosRankSum=1.76;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,9:37:99:0|1:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:256,0,1083:240207755	11	0	2	6
chr1	240207800	240207800	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	888	615	12	1	6	20	0.011254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	536.21	72	chr1	240207800	.	C	*	536.21	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-0.523;DP=781;ExcessHet=0.4742;FS=1.678;InbreedingCoeff=0.0077;MLEAC=3;MLEAF=0.115;MQ=51.92;MQRankSum=-0.202;QD=4.83;ReadPosRankSum=1.3;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,9:37:99:0|1:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:256,0,1083:240207755	11	0	2	6
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	4214.29	58	chr1	240207806	.	C	*	4214.29	.	AC=2;AF=0.091;AN=22;BaseQRankSum=-0.691;DP=689;ExcessHet=0.2912;FS=10.515;InbreedingCoeff=0.113;MLEAC=3;MLEAF=0.136;MQ=50.51;MQRankSum=1.82;QD=15.32;ReadPosRankSum=0.504;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,9:34:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:551,271,829:240207755	9	0	2	8
chr1	243165333	243165333	C	T	exonic	CEP170	.	nonsynonymous SNV	CEP170:NM_001042404:exon12:c.G2333A:p.R778Q,CEP170:NM_001042405:exon12:c.G2333A:p.R778Q,CEP170:NM_014812:exon13:c.G2627A:p.R876Q	.	465	1044	13	0	0	13	0.00618753	.	.	.	2812905	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.106	.	0.0012	0.000998403	0.0094	0.0008	0.0025	0	0.0021	0.0170	0	0.0008	0.001191	31	26028	rs201082752	0.0047	0.0047	0.0047	0.0046	0.0062	0.0046	0.0045	0.0049	0.0049	0.0006	0.0028	0.0217	5.215e-05	0.0010	0.0062	0.0051	0.0056	0.0007	0.0037	0.0038	0.0041	0.0033	0.0057	0.0035	0.0034	0.0053	0.0051	0.0007	0.0122	0.0021	0.0241	0	0.0006	0.0034	0.0057	0.0053	0.0002	0.02	0.49613	D	0.038	0.57587	D	0.992	0.64738	D	0.544	0.49014	P	0.000580	0.43250	D	0.097805	0.999985	0.54805	D	1.725	0.44537	L	0.8	0.50192	T	-0.89	0.25118	N	0.43	0.50868	-1.0171	0.24657	T	0.140	0.45885	T	10	0.004377544	0.00089	T	.	.	.	0.106	0.30130	.	.	0.440498838766	0.43668	0.3604601734384673	0.35960	.	.	0.411914497614	0.26722	T	0.034287	0.23262	T	-0.316146	0.07219	T	-0.225808	0.52176	T	0.0223936490238348	0.00953	T	.	.	.	0.19007154	0.40576	0.09156249	0.21533	0.19007154	0.40576	0.09156249	0.21532	-6.581	0.51705	T	.	.	0.085	0.22717	B	.;.;.	.;.;.	4.325230	0.66232	24.9	0.99940302455772834	0.99767	0.95758	0.66029	D	AEFGI	0.699047	0.65652	D	0.130979999539312	0.47911	3.010391	0.169251340424862	0.48171	3.03668	0.999999759375658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.14	5.14	0.70008	4.575000	0.60619	4.042000	0.41433	0.594000	0.32500	0.996000	0.39380	1.000000	0.68203	0.927000	0.46353	0.0:1.0:0.0:0.0	17.590	0.87893	798	0.45050	CEP170, C-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006386	0.010000	0.005540	0.000000	0.000000	0.008929	0.008197	0.008850	0.02632	606.33	34	chr1	243165333	.	C	T	606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.59;DP=828;ExcessHet=0;FS=2.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=28.93;MQRankSum=0.858;QD=10.64;ReadPosRankSum=0.129;SOR=1.341	GT:AD:DP:GQ:PL	0/1:33,24:57:99:620,0,883	18	0	1	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T,SDCCAG8:NM_006642:exon10:c.T1178C:p.M393T,SDCCAG8:NM_001350247:exon11:c.T275C:p.M92T,SDCCAG8:NM_001350248:exon11:c.T1274C:p.M425T,SDCCAG8:NM_001350246:exon12:c.T275C:p.M92T,SDCCAG8:NM_001350251:exon13:c.T275C:p.M92T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	385.43	34	chr1	243330649	.	T	C	385.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.858;DP=1567;ExcessHet=0.7564;FS=118.041;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.5;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:167,36:203:99:.:.:135,0,3435:.	15	0	4	0
chr1	246767202	246767202	G	C	exonic	SCCPDH	.	nonsynonymous SNV	SCCPDH:NM_016002:exon12:c.G1192C:p.V398L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	46.86	35	chr1	246767202	.	G	C	46.86	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.236;DP=1020;ExcessHet=0.119;FS=378.294;InbreedingCoeff=-0.0568;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=0.427;SOR=8.688	GT:AD:DP:GQ:PL	0/1:64,20:84:23:23,0,1299	17	0	2	0
chr1	248362181	248362181	C	T	exonic	OR2T4	.	nonsynonymous SNV	OR2T4:NM_001004696:exon1:c.C601T:p.R201C	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00398819685734	.	0.000599042	0.0012	9.61e-05	0	0	0	1.498e-05	0	0.0086	0.0009508	147	154602	rs554938356	0.0006	0.0006	0.0003	0.0008	0.0089	0.0005	0.0005	0.0084	0.0082	0	0	0	2.519e-05	0	0.0007	1.169e-05	0.0003	0.0089	0.0002	0.0002	3.856e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	0	0	0	0	0	0	0	0	0.0005	0.0052	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000095	0.51296	N	0.000000	0.796275	0.29168	N	-3.795	0.00001	N	8.97	0.00022	T	11.58	0.00000	N	0.184	0.19995	-0.9853	0.33760	T	0.000	0.00011	T	10	0.0058991313	0.00132	T	0.003988	0.09462	T	0.143	0.38195	0.639	0.77579	0.146414634003	0.14194	0.15065082046583939	0.14987	0.135719511789	0.15305	0.292992562056	0.09360	T	0.019	0.15464	T	-0.592466	0.00162	T	-0.61699	0.11422	T	0.040101016703779	0.03709	T	0.814918	0.46941	T	0.049614806	0.08836	0.05171146	0.08375	0.049614806	0.08835	0.05171146	0.08375	2.013	0.00051	T	.	.	0.042	0.00043	B	.;.	.;.	0.792185	0.11628	8.213	0.067527958144782768	0.00029	0.00801	0.03263	N	AEFI	0.032413	0.03657	N	-1.39947190021539	0.02644	0.1170335	-1.16797079630737	0.06451	0.3105781	7.16074344447646E-4	0.07685	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	3.61	3.61	0.40494	2.379000	0.43973	1.084000	0.23918	-0.211000	0.08354	0.991000	0.37257	0.848000	0.27364	0.031000	0.13245	0.0:0.0974:0.0:0.9026	8.493	0.32273	982	0.03397	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	4273.33	298	chr1	248362181	.	C	T	4273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.56;DP=4180;ExcessHet=0;FS=7.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-1.997;SOR=0.495	GT:AD:DP:GQ:PL	0/1:205,164:369:99:4287,0,5164	18	0	1	0
chr2	1643470	1643470	C	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon19:c.G3850T:p.V1284L	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	429	980	106	7	0	120	0.0576923	.	.	.	250315	not_specified|Anterior_segment_dysgenesis_7|not_provided	MedGen:CN169374|MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.258	.	0.0049	0.013778	0.0118	0.0015	0.0083	0	0.0003	0.0082	0.0211	0.0453	0.0107631	1664	154602	rs147066927	0.0079	0.0079	0.0067	0.0092	0.0569	0.0078	0.0078	0.0518	0.0498	0.0022	0.0078	0.0245	2.519e-05	0.0005	0.0569	0.0051	0.0113	0.0442	0.0061	0.0061	0.0053	0.0069	0.0452	0.0057	0.0056	0.0403	0.0384	0.0011	0	0.0116	0.0199	0	0.0002	0.0408	0.0054	0.0137	0.0452	0.055	0.38407	T	0.078	0.42261	T	0.245	0.31074	B	0.162	0.34839	B	0.235775	0.15821	N	0.585291	0.999947	0.51968	D	1.68	0.43186	L	-0.29	0.67712	T	-2.41	0.52938	N	0.105	0.08925	-0.6554	0.62478	T	0.220	0.58292	T	10	0.009080559	0.00205	T	.	.	.	0.258	0.56959	0.504	0.59770	.	.	0.718440100943886	0.71787	0.559209178422	0.52472	0.590268671513	0.51531	T	0.257772	0.62885	T	-0.215215	0.18652	T	-0.0483367	0.67135	D	0.0161957909221841	0.00394	T	0.833117	0.50161	T	0.2221549	0.44809	0.1884566	0.42137	0.2221549	0.44809	0.1884566	0.42137	-7.21	0.55553	T	0.1606143896662149	0.19607	0.482	0.63745	A	.	.	3.033307	0.40636	21.2	0.99071842500591201	0.51739	0.96374	0.68826	D	AEFDBCI	0.703649	0.65962	D	0.0678464935631092	0.44968	2.76128	0.176129248850277	0.48542	3.068776	0.999999999974522	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	4.733000	0.61730	7.418000	0.58694	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.363000	0.25954	0.0:1.0:0.0:0.0	18.907	0.92439	824	0.40336	Peroxidasin, peroxidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.055388	0.030303	0.054348	0.093567	0.000000	0.094828	0.057927	0.030303	0.1053	6848.43	177	chr2	1643470	.	C	A	6848.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.192;DP=1214;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.474;SOR=0.73	GT:AD:DP:GQ:PL	0/1:90,67:157:99:1472,0,2341	15	0	4	0
chr2	10654492	10654492	T	C	exonic	NOL10	.	nonsynonymous SNV	NOL10:NM_001261392:exon11:c.A884G:p.Y295C,NOL10:NM_001261394:exon11:c.A812G:p.Y271C,NOL10:NM_024894:exon12:c.A962G:p.Y321C	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453	0.0419722450288	0.0005	0.000199681	0.0005	0	0.0002	0	0.0011	0.0006	0	0.0007	0.0004786	74	154602	rs200890328	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0003	0.0006	0.0005	0	7.433e-05	0.0036	0	0.0016	0.0002	0.0002	0.0005	0.0007	0.0004	0.0004	0.0005	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	7.218e-05	0	0	0.0058	0	0.0012	0	0.0004	0	0.0004	0.026	0.53900	D	0.085	0.43531	T	0.999	0.77913	D	0.935	0.67021	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.395	0.35261	L	0.93	0.69896	T	-3.66	0.72594	D	0.823	0.84817	-0.5299	0.67545	T	0.351	0.71518	T	10	0.046275854	0.03798	T	0.041972	0.60217	D	0.453	0.75279	.	.	0.674356667512	0.67160	0.6731257684065093	0.67250	0.546123088021	0.51614	0.748301267624	0.74196	T	0.06972	0.33781	T	0.0960087	0.63858	D	0.251852	0.85709	D	0.107252031564713	0.13136	T	0.968203	0.89015	D	0.32057622	0.54689	0.23211601	0.48363	0.32057622	0.54689	0.23211601	0.48362	-7.944	0.60687	D	.	.	0.281	0.51428	B	.;.;.;.	.;.;.;.	4.781385	0.77498	26.7	0.99820385141432655	0.90326	0.97551	0.75491	D	AEFGBCI	0.871973	0.79362	D	0.591222040618958	0.72626	5.835484	0.632112239578077	0.77285	6.64993	0.999999999998837	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.68	5.68	0.88021	7.807000	0.84584	5.024000	0.46770	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.585	0.76216	950	0.11238	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1154.33	35	chr2	10654492	.	T	C	1154.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.62;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.859;SOR=0.66	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1168,0,1135	18	0	1	0
chr2	17515931	17515931	A	T	exonic	RAD51AP2	.	nonsynonymous SNV	RAD51AP2:NM_001099218:exon1:c.T2485A:p.Y829N,RAD51AP2:NM_001321233:exon5:c.T2458A:p.Y820N	.	467	1050	5	0	0	5	0.0023753	.	.	.	2427274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.0224668206143	0.0003	.	0.0002	0	0	0	0	0.0002	0.0011	0.0008	0.0001811	28	154602	rs370600205	9.032e-05	9.577e-05	6.717e-05	0.0001	0.0010	7.749e-05	7.29e-05	0.0008	0.0007	0	0	0.0013	0	0	0.0004	6.311e-06	0.0001	0.0010	7.899e-05	7.884e-05	5.149e-05	0.0001	0.0010	4.504e-05	3.518e-05	0.0004	0.0003	0	0	0	0.0012	0	0	0	4.417e-05	0	0.0010	0.078	0.33923	T	0.074	0.42976	T	0.4	0.34852	B	0.252	0.39069	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.33	0.35031	T	-5.49	0.85765	D	0.292	0.33030	-0.9623	0.38742	T	0.056	0.23488	T	9	0.018589675	0.00406	T	0.022467	0.45362	T	0.025	0.05312	.	.	0.0762999501168	0.06990	0.07542390067140127	0.07478	0.140722918308	0.15870	0.291297465563	0.09110	T	0.069886	0.33822	T	-0.491776	0.00636	T	-0.55844	0.16523	T	0.0968670818173914	0.12007	T	0.605339	0.22755	T	0.14584185	0.33413	0.3256797	0.58482	0.14584185	0.33412	0.3256797	0.58481	-1.494	0.01752	T	.	.	0.086	0.10787	B	.	.	0.027255	0.04473	1.189	0.61537561846614452	0.06734	0.03399	0.08513	N	AEDGBI	0.043322	0.06836	N	-1.20696287281599	0.04897	0.2220251	-1.35854085801754	0.03706	0.1734319	0.999244826510629	0.38873	0.616025	0.39624	0	0.574621	0.32753	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	-6.59	0.01663	-0.392000	0.07375	-0.096000	0.11999	-0.070000	0.16343	0.000000	0.06391	0.000000	0.08366	0.363000	0.25954	0.5446:0.0995:0.3558:0.0	9.037	0.35458	768	0.49510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05263	3939.83	36	chr2	17515931	.	A	T	3939.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.89;DP=1670;ExcessHet=0.119;FS=0.422;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.038;SOR=0.648	GT:AD:DP:GQ:PL	0/1:77,86:163:99:2208,0,1976	17	0	2	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1906.46	28	chr2	23864893	.	T	C	1906.46	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.108;DP=1231;ExcessHet=31.086;FS=215.109;InbreedingCoeff=-0.7907;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.27;SOR=11.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,19:60:78:.:.:78,0,535:.	2	0	17	0
chr2	24164259	24164259	A	G	exonic	FAM228B	.	nonsynonymous SNV	FAM228B:NM_001145710:exon9:c.A856G:p.S286G,FAM228B:NM_001291328:exon9:c.A445G:p.S149G	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0133421122566	.	0.000798722	0.0013	0.0005	0	0	0	0	0	0.0034	0.000207	32	154602	rs199663745	0.0002	0.0002	0.0002	0.0003	0.0042	0.0002	0.0002	0.0038	0.0037	0	0	0	0	0	0.0002	9.27e-07	0.0003	0.0042	0.0002	0.0002	0.0001	0.0002	0.0048	0.0001	9.232e-05	0.0033	0.0028	2.406e-05	0	0	0	0	0	0	0	0	0.0048	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.112	0.09914	-1.0682	0.09813	T	0.077	0.30767	T	8	0.0041534305	0.00082	T	0.013342	0.32667	T	.	.	.	.	0.0401082797425	0.02173	0.01328224536606756	0.01286	.	.	0.293175965548	0.09387	T	.	.	.	-0.493504	0.00622	T	-0.481805	0.24255	T	0.013443868979192	0.00244	T	0.452755	0.12846	T	0.047116153	0.08001	0.10876488	0.26204	0.047116153	0.08001	0.10876488	0.26203	-4.132	0.25760	T	.	.	0.080	0.33086	B	.;.;.;.	.;.;.;.	2.216027	0.28277	17.74	0.97527543768559033	0.34437	0.14607	0.18492	N	AEFBCI	0.048897	0.08393	N	-0.603967342456692	0.18824	0.9804182	-0.701856365926859	0.16914	0.8970152	0.738469229749131	0.23172	0.656854	0.48797	0	0.624146	0.53433	0	0.576033	0.28219	0	0.699908	0.69081	0	.	.	4.17	3.0	0.33773	0.738000	0.25826	0.267000	0.16613	-0.095000	0.16041	0.001000	0.13787	0.000000	0.08366	0.107000	0.18608	0.7879:0.2121:0.0:0.0	7.814	0.28410	305	0.87738	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1924.33	34	chr2	24164259	.	A	G	1924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.744;DP=789;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-0.016;SOR=0.771	GT:AD:DP:GQ:PL	0/1:92,83:175:99:1938,0,2242	18	0	1	0
chr2	24793322	24793322	C	T	exonic	PTRHD1	.	nonsynonymous SNV	PTRHD1:NM_001013663:exon1:c.G56A:p.G19E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0129531480803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	5.447e-06	1.375e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27783	T	0.144	0.33109	T	0.454	0.36182	P	0.186	0.36104	B	0.772170	0.06604	N	1.115980	0.995659	0.23235	N	2.045	0.56016	M	1.8	0.25344	T	-1.09	0.28290	N	0.396	0.43706	-1.0261	0.21723	T	0.050	0.21300	T	10	0.12653497	0.24056	T	0.012953	0.31963	T	0.026	0.05648	0.38	0.39645	0.250579442822	0.24687	0.5182423654142342	0.51747	0.293945167638	0.31813	0.345383286476	0.17240	T	0.020164	0.15924	T	-0.179624	0.23791	T	-0.495794	0.22784	T	0.203163370490074	0.20589	T	0.659134	0.26825	T	0.08760055	0.20404	0.16472806	0.38145	0.08760055	0.20404	0.16472806	0.38144	-4.003	0.23849	T	.	.	0.086	0.10449	B	.	.	1.524990	0.19577	14.33	0.98455396902778303	0.41677	0.14501	0.18436	N	ALL	0.153166	0.27798	N	-0.336892626544541	0.27757	1.525451	-0.310894304090803	0.27745	1.541809	0.999999999999983	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	6.06	3.11	0.34883	0.716000	0.25508	0.000000	0.13247	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.816000	0.38450	0.0:0.5724:0.3011:0.1265	7.120	0.24619	373	0.84140	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1899.33	33	chr2	24793322	.	C	T	1899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.116;DP=791;ExcessHet=0;FS=3.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.01;SOR=0.453	GT:AD:DP:GQ:PL	0/1:68,77:145:99:1913,0,1742	18	0	1	0
chr2	25377548	25377548	C	G	exonic	DTNB	.	nonsynonymous SNV	DTNB:NM_001351394:exon18:c.G1615C:p.E539Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.906e-05	5.905e-05	3.854e-05	8.05e-05	0.0019	3.074e-05	2.208e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	60.08	3	chr2	25377548	.	C	G	60.08	.	AC=1;AF=0.031;AN=32;BaseQRankSum=1.38;DP=36;ExcessHet=0;FS=0;InbreedingCoeff=-0.0235;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.674;SOR=2.303	GT:AD:DP:GQ:PL	0/1:2,2:4:37:70,0,37	15	0	1	3
chr2	26318051	26318051	C	T	exonic	ADGRF3	.	stopgain	ADGRF3:NM_001145168:exon2:c.G251A:p.W84X	.	408	1104	9	1	0	11	0.00495719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0012	0	0.0024	0	0	0.0001	0.0042	0.0031	0.000194	30	154602	rs372835378	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0	2.803e-05	0	0	2.029e-05	0.0009	2.41e-05	0.0002	0.0026	9.191e-05	9.186e-05	7.708e-05	0.0001	0.0023	5.523e-05	4.361e-05	0.0013	0.0010	0	0	0	0	0.0002	0	0	2.94e-05	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.02	0.00308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.243396	0.14919	T	-0.127635	0.61169	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.335669	0.07097	3.667	0.96522272928220476	0.30119	0.00408	0.02030	N	AEFDGBI	0.031604	0.03414	N	-0.274643380820906	0.30130	1.677226	-0.712724760128822	0.16644	0.8814624	0.988105338177474	0.31419	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	0.927	-0.244	0.12388	-0.649000	0.05483	0.158000	0.15372	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.5745:0.4255:0.0	4.449	0.11031	445	0.79730	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002953	0.000000	0.000000	0.000000	0.000000	0.043478	0.000000	0.008621	0.05263	1823.83	37	chr2	26318051	.	C	T	1823.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.16;DP=737;ExcessHet=0.119;FS=1.291;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.533;SOR=0.836	GT:AD:DP:GQ:PL	0/1:31,40:71:99:1067,0,714	17	0	2	0
chr2	27343391	27343391	G	A	exonic	GTF3C2	.	nonsynonymous SNV	GTF3C2:NM_001035521:exon2:c.C164T:p.T55I,GTF3C2:NM_001318909:exon2:c.C197T:p.T66I,GTF3C2:NM_001521:exon3:c.C164T:p.T55I	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0215923622191	0.0002	.	8.247e-05	0	0	0	0	3.001e-05	0	0.0005	6.47e-05	10	154602	rs138676594	3.353e-05	3.352e-05	1.77e-05	4.951e-05	0.0010	2.567e-05	2.312e-05	0.0005	0.0003	0	0	0	0	0	0.0010	5.398e-06	6.624e-05	0.0004	1.971e-05	1.97e-05	1.285e-05	2.689e-05	0.0004	5.24e-06	2.45e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.047	0.43393	D	0.074	0.42976	T	0.612	0.39723	P	0.203	0.37000	B	0.199897	0.16627	N	0.547418	1	0.08975	N	0.55	0.14455	N	-0.7	0.72785	T	-0.57	0.74742	N	0.229	0.25745	-0.9516	0.40695	T	0.176	0.52100	T	10	0.048664063	0.04349	T	0.021592	0.44379	T	0.090	0.26093	.	.	0.248133497653	0.24425	0.13214520795680457	0.13139	0.185292135175	0.20833	0.36537078023	0.20165	T	0.135379	0.46715	T	-0.275369	0.11166	T	-0.328777	0.41604	T	0.0537506633323621	0.06147	T	0.627137	0.24909	T	0.037054434	0.04676	0.050882526	0.08074	0.037054434	0.04675	0.050882526	0.08074	-4.396	0.29503	T	.	.	0.083	0.22573	B	.;.;.;.;.	.;.;.;.;.	2.393763	0.30746	18.53	0.99592568439940443	0.73690	0.12051	0.17029	N	AEFDBI	0.052993	0.09509	N	-0.283450650190941	0.29787	1.655021	-0.299998849847875	0.28099	1.564067	0.0738548288280066	0.15648	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.71	2.85	0.32333	1.834000	0.38811	3.772000	0.39758	0.676000	0.76740	0.117000	0.23121	0.998000	0.33993	0.985000	0.61073	0.1043:0.2001:0.6956:0.0	5.770	0.17513	293	0.88320	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1771.33	34	chr2	27343391	.	G	A	1771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.435;SOR=0.661	GT:AD:DP:GQ:PL	0/1:95,70:165:99:1785,0,2485	18	0	1	0
chr2	28539119	28539119	C	A	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon11:c.C672A:p.N224K,PLB1:NM_153021:exon11:c.C639A:p.N213K	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0268913967088	.	0.00159744	0.0008	0	8.645e-05	0	0	0	0	0.0056	0.0006792	105	154602	rs201950380	0.0004	0.0004	0.0002	0.0005	0.0061	0.0004	0.0003	0.0057	0.0055	2.987e-05	0	0	0	0	0	1.799e-06	0.0004	0.0061	0.0002	0.0002	0.0001	0.0003	0.0072	0.0002	0.0002	0.0054	0.0047	2.406e-05	0	0	0	0	0	0	0	0	0.0072	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.972	0.92359	D	0.000044	0.53742	D	0.123571	0.857681	0.28403	N	3.31	0.90591	M	1.32	0.35219	T	-5.83	0.88361	D	0.808	0.80375	-0.3204	0.74410	T	0.389	0.74335	T	10	0.012284219	0.00265	T	0.026891	0.49757	D	0.289	0.60808	0.695	0.83219	0.28798054836	0.28402	0.6930204789328924	0.69242	0.157749596145	0.17814	0.611724495888	0.54559	T	0.10685	0.41854	T	-0.379839	0.03123	T	-0.315916	0.43021	T	0.289925636235644	0.24586	T	0.764923	0.42944	T	0.57153183	0.71145	0.4449027	0.67656	0.57153183	0.71146	0.4449027	0.67656	-11.117	0.80296	D	.	.	0.975	0.91282	P	.;.;.	.;.;.	3.694145	0.52654	23.3	0.99745633978114878	0.83852	0.98530	0.83766	D	AEFDBHCI	0.311580	0.41727	N	0.205292764326764	0.51454	3.326612	0.17865965581313	0.48679	3.080605	0.998614306679977	0.37309	0.559995	0.30671	0	0.624146	0.53433	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.7	2.43	0.28797	1.256000	0.32524	1.214000	0.24928	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.0:0.6856:0.0:0.3144	7.735	0.27975	612	0.66786	.;Phospholipase B;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2132.33	33	chr2	28539119	.	C	A	2132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.386;DP=856;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.187;SOR=0.718	GT:AD:DP:GQ:PL	0/1:99,88:187:99:2146,0,2516	18	0	1	0
chr2	43697278	43697278	C	T	exonic	PLEKHH2	.	nonsynonymous SNV	PLEKHH2:NM_172069:exon7:c.C610T:p.P204S	.	436	994	83	9	0	101	0.0483485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0061	0.0071885	0.0101	0.0016	0.0022	0.0002	0.0024	0.0091	0.0121	0.0336	0.0095988	1484	154602	rs142153423	0.0081	0.0081	0.0071	0.0090	0.0404	0.0080	0.0079	0.0361	0.0345	0.0017	0.0034	0.0092	0.0001	0.0026	0.0404	0.0068	0.0082	0.0340	0.0060	0.0060	0.0060	0.0060	0.0317	0.0057	0.0056	0.0276	0.0260	0.0019	0.0055	0.0049	0.0101	0.0004	0.0019	0.0340	0.0076	0.0071	0.0317	0.321	0.13522	T	0.36	0.16964	T	0.001	0.07471	B	0.002	0.06944	B	0.000101	0.50451	N	0.136303	0.985952	0.24662	N	0.345	0.11182	N	0.9	0.45248	T	-0.52	0.16187	N	0.044	0.01658	-1.0478	0.15016	T	0.046	0.19559	T	10	0.002683133	0.00041	T	.	.	.	0.043	0.11576	.	.	.	.	0.18599747169315667	0.18517	0.0193558594551	0.01897	0.276209801435	0.06969	T	0.010631	0.09578	T	-0.613942	0.00120	T	-0.629594	0.10446	T	0.00276598705785546	0.00029	T	0.741226	0.36032	T	0.061813172	0.12843	0.067769594	0.14065	0.061813172	0.12843	0.067769594	0.14065	-2.68	0.07136	T	.	.	0.066	0.02145	B	.	.	1.530231	0.19634	14.36	0.99065392673448482	0.51598	0.84387	0.43469	D	AEFI	0.242514	0.36396	N	-0.389099018397365	0.25855	1.406726	-0.214605360810121	0.31010	1.751141	0.00840704204609572	0.11670	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.01	3.08	0.34576	1.804000	0.38510	1.378000	0.26011	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.934000	0.47231	0.0:0.7827:0.1403:0.077	9.832	0.40114	604	0.67577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.015152	0.023098	0.017544	0.050000	0.025862	0.018293	0.049242	0.07895	2159.79	35	chr2	43697278	.	C	T	2159.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.17;DP=759;ExcessHet=0.3672;FS=1.086;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.662;SOR=0.71	GT:AD:DP:GQ:PL	0/1:31,30:61:99:659,0,775	16	0	3	0
chr2	54960267	54960267	G	A	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon34:c.G4901A:p.R1634H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.032243584135	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183166949	7.861e-06	7.524e-06	8.461e-06	7.245e-06	0.0002	4.22e-06	3.08e-06	7.314e-05	4.944e-05	0	0.0002	0	2.798e-05	0	0	2.781e-06	0	1.262e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.011	0.55530	D	0.005	0.72224	D	1.0	0.90584	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.82	0.47800	L	1.19	0.37578	T	-3.14	0.64019	D	0.604	0.62188	-0.7524	0.57810	T	0.207	0.56594	T	10	0.58954036	0.66302	D	0.032244	0.54125	D	0.408	0.72022	0.403	0.43408	0.757359631849	0.75515	0.37321193101493927	0.37235	0.741070227318	0.63271	0.862341463566	0.91456	D	0.190782	0.54543	T	-0.0775959	0.40105	T	-0.112569	0.62406	T	0.87821638584137	0.52814	D	0.972478	0.90093	D	0.41358635	0.61662	0.2745263	0.53381	0.41358635	0.61663	0.2745263	0.53380	-13.827	0.92481	D	.	.	0.927	0.84804	P	.	.	5.423105	0.90721	31	0.99954867025280936	0.99969	0.98536	0.83832	D	AEFDBI	0.926487	0.90768	D	0.790318726713047	0.85494	8.593285	0.778388764799953	0.88255	9.51351	0.999999999999998	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.08	5.08	0.68373	9.602000	0.97623	11.846000	0.97940	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.823	0.92072	544	0.72685	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1424.33	41	chr2	54960267	.	G	A	1424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=842;ExcessHet=0;FS=4.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=-0.05;SOR=1.036	GT:AD:DP:GQ:PL	0/1:73,60:133:99:1438,0,1570	18	0	1	0
chr2	55049789	55049789	G	A	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_020532:exon1:c.C512T:p.S171F,RTN4:NM_153828:exon1:c.C512T:p.S171F,RTN4:NM_207520:exon1:c.C512T:p.S171F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.187073180636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.014	0.62352	D	0.971	0.57185	D	0.543	0.48966	P	0.506851	0.11887	N	0.714690	0.986319	0.40413	D	0.895	0.22405	L	1.09	0.39223	T	-1.23	0.39503	N	0.333	0.39659	-1.0069	0.27881	T	0.100	0.37060	T	10	0.23342708	0.40360	T	0.187073	0.85916	D	0.113	0.31778	0.225	0.14960	0.487843537783	0.48417	0.08361803799500017	0.08295	0.0922585899238	0.10416	0.931985735893	0.99096	D	0.109177	0.42282	T	-0.055513	0.43605	T	-0.317517	0.42848	T	0.899812877178192	0.55220	D	0.806319	0.45525	T	0.23745282	0.46609	0.30682072	0.56706	0.23745282	0.46609	0.30682072	0.56705	-6.565	0.61648	T	.	.	0.418	0.60555	A	.;.;.;.	.;.;.;.	4.746216	0.76591	26.5	0.98809797968465585	0.46590	0.43260	0.27059	N	ALL	0.213706	0.33926	N	-0.00750640178098397	0.41515	2.484565	-0.04621071824906	0.37654	2.207658	0.999999999673056	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.47	3.47	0.38831	3.422000	0.52509	7.926000	0.74773	0.562000	0.28470	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	10.613	0.44627	630	0.65016	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	210.33	15	chr2	55049789	.	G	A	210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.572;DP=444;ExcessHet=0;FS=0;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-1.641;SOR=0.49	GT:AD:DP:GQ:PL	0/1:14,9:23:99:224,0,407	18	0	1	0
chr2	55049888	55049888	T	C	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_020532:exon1:c.A413G:p.E138G,RTN4:NM_153828:exon1:c.A413G:p.E138G,RTN4:NM_207520:exon1:c.A413G:p.E138G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.221786192781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.567e-06	3.42e-06	3.295e-06	1.78e-06	3.088e-06	6.8e-07	1.9e-07	8.2e-07	2.3e-07	0	0	0	0	0	0	3.088e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72154	D	0.027	0.55341	D	0.221	0.30336	B	0.133	0.33073	B	0.700890	0.06202	N	1.234340	0.897288	0.81001	D	0.805	0.20218	L	1.01	0.41058	T	-0.89	0.43524	N	0.339	0.38232	-1.0689	0.09657	T	0.084	0.32729	T	10	0.20116574	0.36190	T	0.221786	0.87823	D	0.176	0.44373	0.188	0.09776	0.453679287548	0.44989	0.12662339495494848	0.12588	0.0790241718364	0.08888	0.856227517128	0.90550	D	0.100228	0.40582	T	-0.0563512	0.43475	T	-0.318721	0.42716	T	0.562252483175984	0.34940	D	0.738026	0.36463	T	0.19643141	0.41471	0.2574995	0.51467	0.19643141	0.41471	0.2574995	0.51466	-4.293	0.32397	T	.	.	0.200	0.42404	B	.;.;.;.	.;.;.;.	2.999621	0.40076	21.1	0.99346664774851301	0.60412	0.62401	0.31770	D	AEFDGBHCI	0.409216	0.48058	N	-0.31765426900516	0.28477	1.571047	-0.203688438534621	0.31404	1.776905	0.999999996646426	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.2	3.2	0.35826	2.423000	0.44361	2.756000	0.34570	0.546000	0.25710	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	8.016	0.29543	630	0.65016	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	572.33	20	chr2	55049888	.	T	C	572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.5;DP=554;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=2.43;SOR=0.693	GT:AD:DP:GQ:PL	0/1:16,22:38:99:586,0,456	18	0	1	0
chr2	67403239	67403239	G	C	exonic	ETAA1	.	nonsynonymous SNV	ETAA1:NM_019002:exon5:c.G557C:p.S186T	.	512	984	23	3	0	29	0.0145218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0006	0.000599042	0.0025	0	0.0008	0.0001	0.0002	0.0014	0.0077	0.0144	0.0002911	45	154602	rs201056460	0.0016	0.0016	0.0012	0.0019	0.0190	0.0015	0.0015	0.0160	0.0149	0.0003	0.0010	0.0037	5.083e-05	3.882e-05	0.0190	0.0008	0.0025	0.0120	0.0012	0.0012	0.0009	0.0014	0.0085	0.0010	0.0010	0.0064	0.0057	7.228e-05	0	0.0020	0.0040	0	0	0.0102	0.0012	0.0019	0.0085	0.009	0.57480	D	0.035	0.52389	D	0.01	0.15535	B	0.022	0.19653	B	0.005845	0.32460	N	0.352858	0.99806	0.22374	N	1.04	0.26193	L	2.16	0.19166	T	-1.3	0.32590	N	0.061	0.03283	-1.0206	0.23519	T	0.039	0.16763	T	10	0.0032284558	0.00055	T	.	.	.	0.027	0.05988	.	.	0.082315109003	0.07666	0.050468486461131404	0.04989	0.038995642377	0.04153	0.419647246599	0.27787	T	0.022452	0.17305	T	-0.624252	0.00104	T	-0.66151	0.08164	T	0.0128142455102638	0.00218	T	0.514149	0.16548	T	0.10648474	0.25179	0.11903876	0.28733	0.10648474	0.25178	0.11903876	0.28732	-4.154	0.26082	T	.	.	0.085	0.10352	B	.	.	1.547575	0.19836	14.46	0.94698218446344595	0.25348	0.78913	0.39008	D	AEFGBI	0.113732	0.22429	N	-0.428456259082109	0.24476	1.321859	-0.263942683120013	0.29295	1.640143	0.998497796866115	0.37071	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.16	2.16	0.26663	1.707000	0.37507	2.593000	0.33479	-0.046000	0.17342	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.7377:0.0:0.2623:0.0	10.797	0.45668	948	0.11499	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012109	0.005102	0.004076	0.008772	0.000000	0.008772	0.030675	0.026515	0.05263	1365.83	33	chr2	67403239	.	G	C	1365.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.103;DP=721;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.01;SOR=0.686	GT:AD:DP:GQ:PL	0/1:29,23:52:99:523,0,846	17	0	2	0
chr2	71124406	71124406	T	G	exonic	MCEE	.	nonsynonymous SNV	MCEE:NM_032601:exon2:c.A178C:p.K60Q	Methylmalonyl-CoA epimerase deficiency, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	200013	not_provided|not_specified|Methylmalonic_acidemia_due_to_methylmalonyl-CoA_epimerase_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009615,MedGen:C1855100,OMIM:251120,Orphanet:308425	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.302	.	0.0002	0.00419329	0.0021	9.771e-05	0.0002	0	0	0	0.0022	0.0154	0.0018305	283	154602	rs147401037	0.0009	0.0009	0.0005	0.0012	0.0136	0.0008	0.0008	0.0129	0.0127	2.987e-05	2.236e-05	0	2.519e-05	0	0.0019	3.597e-06	0.0010	0.0136	0.0005	0.0005	0.0002	0.0008	0.0155	0.0004	0.0004	0.0127	0.0117	4.813e-05	0	0	0	0	0	0	0	0	0.0155	0.292	0.26409	T	0.379	0.22494	T	0.031	0.20130	B	0.026	0.20792	B	0.000504	0.43753	D	0.255145	0.999996	0.58761	D	1.54	0.38927	L	-0.66	0.72348	T	-3.02	0.62630	D	0.766	0.76388	-0.7068	0.60110	T	0.258	0.62900	T	10	0.009763122	0.00219	T	.	.	.	0.302	0.62290	.	.	0.766255123119	0.76412	0.6201283003213636	0.61945	0.125120315367	0.14101	0.406165480614	0.25926	T	0.365963	0.73130	T	-0.218302	0.18224	T	-0.0740289	0.65337	T	0.0424730093951456	0.04141	T	0.984002	0.94749	D	0.51176524	0.67782	0.21203265	0.45656	0.47624975	0.65673	0.2590334	0.51645	-5.03	0.37164	T	0.13418665297687954	0.14472	0.125	0.26451	B	.;.	.;.	3.133574	0.42348	21.5	0.91110143463874482	0.20363	0.94197	0.60408	D	AEFBI	0.701608	0.65824	D	-0.322745449513777	0.28286	1.55892	-0.276118489698271	0.28886	1.61412	0.985702518430939	0.30934	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.39	2.77	0.31614	4.432000	0.59666	.	.	0.660000	0.55035	1.000000	0.71638	0.132000	0.23010	0.977000	0.56843	0.0:0.0:0.3094:0.6906	10.464	0.43783	871	0.31377	Glyoxalase/fosfomycin resistance/dioxygenase domain;Vicinal oxygen chelate (VOC) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1502.33	39	chr2	71124406	.	T	G	1502.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.564;DP=822;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.506;SOR=0.656	GT:AD:DP:GQ:PL	0/1:51,66:117:99:1516,0,1351	18	0	1	0
chr2	71202556	71202556	T	A	exonic	PAIP2B	.	nonsynonymous SNV	PAIP2B:NM_020459:exon2:c.A34T:p.S12C	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	8.3e-05	0.00379393	0.0023	0	0.0002	0	0	0	0	0.0166	0.0019275	298	154602	rs375789692	0.0009	0.0009	0.0005	0.0013	0.0146	0.0009	0.0009	0.0139	0.0136	2.987e-05	2.236e-05	0	2.52e-05	0	0.0019	4.498e-06	0.0012	0.0146	0.0006	0.0006	0.0002	0.0009	0.0170	0.0005	0.0004	0.0140	0.0129	4.813e-05	0	0	0	0	0	0	0	0.0005	0.0170	0.005	0.63226	D	0.048	0.48594	D	0.07	0.23866	B	0.111	0.31539	B	0.003819	0.34463	N	0.340460	0.706803	0.33477	D	1.495	0.37439	L	.	.	.	-2.16	0.48850	N	0.246	0.27792	-0.5519	0.66715	T	0.203	0.55989	T	9	0.00356102	0.00064	T	.	.	.	0.080	0.23350	.	.	0.321108458156	0.31720	0.34066084109677697	0.33979	0.0678676884174	0.07595	0.307368397713	0.11508	T	0.210135	0.57054	T	-0.400008	0.02315	T	-0.334387	0.40980	T	0.0376710711402283	0.03274	T	0.687031	0.29593	T	0.13762963	0.31859	0.13585345	0.32515	0.13762963	0.31859	0.13585345	0.32514	-5.771	0.44321	T	.	.	0.069	0.02960	B	.	.	3.922039	0.57271	23.8	0.98234624693300165	0.39423	0.94687	0.61986	D	AEFBI	0.749318	0.69079	D	0.0900120035364082	0.45997	2.847098	0.215265896773462	0.50695	3.258815	0.817366273486372	0.24462	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.13	5.13	0.69729	5.209000	0.65041	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.0:0.0:1.0	13.182	0.59082	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2326.33	35	chr2	71202556	.	T	A	2326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.823;DP=828;ExcessHet=0;FS=0.542;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.765;SOR=0.643	GT:AD:DP:GQ:PL	0/1:101,95:196:99:2340,0,2499	18	0	1	0
chr2	72135145	72135145	C	T	exonic	CYP26B1	.	nonsynonymous SNV	CYP26B1:NM_001277742:exon2:c.G479A:p.R160Q,CYP26B1:NM_019885:exon3:c.G704A:p.R235Q	Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies	.	.	.	.	.	.	.	0.9314	0.578	.	85584	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.333	0.0280403603893	.	.	0.0002	0	0.0002	0.0005	0	3.043e-05	0	0.0006	0.0001164	18	154602	rs267599444	0.0001	0.0001	0.0001	0.0001	0.0011	0.0001	0.0001	0.0008	0.0008	5.975e-05	0.0002	3.826e-05	0.0011	0	0.0005	8.903e-05	6.627e-05	0.0005	5.909e-05	5.905e-05	6.425e-05	5.371e-05	0.0002	3.075e-05	2.209e-05	2.847e-05	1.858e-05	2.406e-05	0	0	0	0.0002	0	0	7.35e-05	0.0005	0.0002	0.005	0.65419	D	0.007	0.69154	D	0.782	0.44333	P	0.523	0.48316	P	0.000001	0.84330	D	0.052058	0.992237	0.41590	D	1.995	0.54099	M	-0.46	0.70014	T	-1.84	0.43149	N	0.594	0.62526	-0.3757	0.72786	T	0.344	0.70891	T	10	0.3321089	0.50422	T	0.02804	0.50772	D	0.333	0.65522	0.704	0.84054	0.700872361148	0.69828	0.42148509424606795	0.42064	0.379646040224	0.39352	0.527902305126	0.42739	T	0.173131	0.52188	T	-0.220251	0.17958	T	-0.232185	0.51560	T	0.078979529440403	0.09856	T	0.90471	0.71813	D	0.5931054	0.72319	0.3605307	0.61493	0.5931054	0.72320	0.3605307	0.61492	-6.094	0.47059	T	.	.	0.120	0.27343	B	.;.;.;.	.;.;.;.	5.415668	0.90628	31	0.99946171002840412	0.99901	0.87844	0.47525	D	AEFDBI	0.673952	0.63984	D	0.422990691050206	0.62688	4.488961	0.44600377354187	0.64461	4.701765	0.999998406540271	0.74766	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	5.03	5.03	0.67015	2.044000	0.40863	7.694000	0.65937	0.599000	0.40250	0.985000	0.35982	1.000000	0.68203	0.825000	0.38878	0.0:1.0:0.0:0.0	17.309	0.87091	920	0.19381	.;.;.;.	.	.	.	.	.	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	0.001008	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.000000	0.02632	1505.33	36	chr2	72135145	.	C	T	1505.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.593;DP=755;ExcessHet=0;FS=0.768;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-0.16;SOR=0.864	GT:AD:DP:GQ:PL	0/1:45,58:103:99:1519,0,1205	18	0	1	0
chr2	73426482	73426482	G	A	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon6:c.G1267A:p.V423I,ALMS1:NM_015120:exon6:c.G1267A:p.V423I	Alstrom syndrome, Autosomal recessive	2	1502	17	1	0	19	0.00628515	.	.	.	238977	not_provided|Cardiovascular_phenotype|Retinal_dystrophy|Alstrom_syndrome|not_specified|Monogenic_diabetes	MedGen:C3661900|MedGen:CN230736|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.023	0.00345612667814	0.0033	0.00179712	0.0026	0.0009	0.0005	0	0.0027	0.0030	0	0.0050	0.0027167	420	154602	rs45630557	0.0040	0.0040	0.0040	0.0040	0.0054	0.0039	0.0039	0.0050	0.0048	0.0007	0.0004	0.0009	5.038e-05	0.0028	0.0017	0.0044	0.0035	0.0054	0.0029	0.0029	0.0030	0.0028	0.0064	0.0027	0.0026	0.0047	0.0041	0.0008	0	0.0007	0.0003	0	0.0037	0	0.0047	0.0024	0.0064	.	.	.	1.0	0.02459	T	0.0	0.02946	B	0.0	0.01387	B	0.747686	0.06466	N	1.155680	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	0.08	0.05542	-0.9575	0.39644	T	0.026	0.11087	T	10	0.004122615	0.00081	T	0.003456	0.07786	T	.	.	.	.	0.171388866994	0.16791	0.006995272376326678	0.00666	.	.	0.252609908581	0.04047	T	0.013741	0.17914	T	-0.577617	0.00199	T	-0.598757	0.12915	T	0.00138119108586919	0.00014	T	0.568943	0.20320	T	0.0102147795	0.00006	0.023596251	0.00373	0.012878834	0.00044	0.026542263	0.00749	-3.545	0.17067	T	.	.	0.065	0.02038	B	.;.;.	.;.;.	-1.080854	0.00664	0.018	0.72303482062225	0.09926	0.00493	0.02333	N	AEFGBI	0.014563	0.00238	N	-1.60831193230195	0.01223	0.05320218	-1.59728870139726	0.01672	0.07592029	0.00646401893511308	0.11224	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	4.67	0.203	0.14472	-0.251000	0.08837	0.014000	0.13486	-1.554000	0.00958	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6658:0.0:0.3342:0.0	8.390	0.31685	549	0.72275	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	973.33	35	chr2	73426482	.	G	A	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=1.27;SOR=0.686	GT:AD:DP:GQ:PL	0/1:48,41:89:99:987,0,1099	18	0	1	0
chr2	73784343	73784343	G	A	exonic	C2orf78	.	nonsynonymous SNV	C2orf78:NM_001080474:exon1:c.G34A:p.A12T	.	628	884	8	2	0	12	0.00674157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000846598976948	.	.	0	0	.	.	.	0	.	.	6.47e-05	10	154602	rs763969172	0.0016	0.0014	0.0009	0.0023	0.0186	0.0016	0.0015	0.0178	0.0175	0.0002	0.0004	8.669e-05	0	5.959e-05	0.0029	0.0004	0.0012	0.0186	0.0008	0.0008	0.0006	0.0011	0.0155	0.0007	0.0007	0.0126	0.0116	4.914e-05	0	0.0005	0	0	0	0.0068	0.0006	0.0010	0.0155	0.621	0.05293	T	1.0	0.01155	T	0.331	0.33259	B	0.062	0.26930	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	0.88	0.01664	N	0.032	0.00825	-1.0002	0.29860	T	0.022	0.09421	T	8	0.0033150315	0.00057	T	8.47E-4	0.00734	T	0.026	0.05648	0.142	0.04556	0.0806252709748	0.07271	0.0034152991731072188	0.00319	0.0643857280339	0.07174	.	.	.	0.013262	0.11507	T	-0.651193	0.00071	T	-0.691913	0.06280	T	0.0201953202878348	0.00719	T	0.386161	0.09499	T	0.017668607	0.00292	0.04122659	0.04637	0.017668607	0.00292	0.04122659	0.04637	-3.259	0.13214	T	.	.	0.08	0.07793	B	.	.	0.294376	0.06705	3.211	0.64985530446057449	0.07645	0.00366	0.01868	N	AEFI	0.021671	0.00992	N	-1.3769359367759	0.02855	0.126686	-1.37359659550125	0.03535	0.1651233	0.940112614179508	0.27418	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.9	1.72	0.23498	0.044000	0.13876	0.604000	0.19959	-0.585000	0.04679	0.002000	0.15269	0.001000	0.17328	0.085000	0.17524	0.0:0.0:0.2736:0.7264	6.092	0.19222	392	0.83172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	66.73	17	chr2	73784343	.	G	A	66.73	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.812;DP=275;ExcessHet=0;FS=3.01;InbreedingCoeff=-0.0426;MLEAC=1;MLEAF=0.028;MQ=36.77;MQRankSum=-0.601;QD=7.41;ReadPosRankSum=0.12;SOR=1.911	GT:AD:DP:GQ:PL	0/1:6,3:9:80:80,0,203	17	0	1	1
chr2	75652630	75652630	A	G	exonic	MRPL19	.	nonsynonymous SNV	MRPL19:NM_014763:exon4:c.A448G:p.I150V	.	424	1082	15	1	0	17	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00150728751698	0.0006	0.000399361	0.0010	0	0	0	0	0.0008	0.0011	0.0037	0.0007956	123	154602	rs202085777	0.0005	0.0005	0.0004	0.0006	0.0099	0.0005	0.0005	0.0078	0.0071	2.992e-05	8.97e-05	0.0052	0	0	0.0099	0.0001	0.0010	0.0036	0.0004	0.0004	0.0003	0.0005	0.0041	0.0003	0.0003	0.0027	0.0023	0	0	0.0001	0.0040	0	0	0.0068	0.0004	0.0014	0.0041	0.434	0.09430	T	0.59	0.14116	T	0.002	0.09854	B	0.006	0.12133	B	0.001308	0.39449	N	0.282844	0.836738	0.28686	N	-0.46	0.02758	N	.	.	.	0.05	0.06369	N	0.143	0.14338	-1.0548	0.13093	T	0.044	0.19111	T	9	0.011534005	0.00252	T	0.001507	0.02343	T	0.090	0.26093	.	.	0.387529464389	0.38369	0.2683027445148386	0.26743	0.0845685799742	0.09552	0.346059650183	0.17341	T	0.037281	0.24416	T	-0.521622	0.00431	T	-0.52384	0.19907	T	0.0326717347152332	0.02417	T	0.864914	0.56300	D	0.041503947	0.06125	0.037506916	0.03419	0.041503947	0.06125	0.037506916	0.03419	-2.545	0.06097	T	.	.	0.083	0.22680	B	.;.;.;.	.;.;.;.	1.509514	0.19395	14.24	0.85466671940532013	0.15910	0.78000	0.38420	D	AEFBI	0.273080	0.38856	N	-0.419855350779655	0.24774	1.340048	-0.207521615844711	0.31264	1.767763	0.99990500929393	0.45458	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	4.1	0.47196	4.899000	0.62932	4.355000	0.43100	0.756000	0.94297	1.000000	0.71638	0.159000	0.23246	0.544000	0.30032	0.7719:0.0:0.2281:0.0	4.733	0.12354	958	0.09170	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.005051	0.004076	0.026316	0.000000	0.000000	0.003049	0.007634	0.02632	1669.33	33	chr2	75652630	.	A	G	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.187;DP=770;ExcessHet=0;FS=3.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.348;SOR=0.452	GT:AD:DP:GQ:PL	0/1:77,74:151:99:1683,0,1806	18	0	1	0
chr2	85616397	85616397	C	T	exonic	USP39	.	nonsynonymous SNV	USP39:NM_001256725:exon1:c.C202T:p.P68S,USP39:NM_001256726:exon1:c.C202T:p.P68S,USP39:NM_006590:exon1:c.C202T:p.P68S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0123862387906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.067e-06	2.736e-06	2.738e-06	1.387e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.342e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.385	0.21011	T	0.0	0.02946	B	0.0	0.01387	B	0.180027	0.17128	N	0.582727	1	0.26742	N	0	0.06538	N	2.38	0.15964	T	-1.27	0.31981	N	0.247	0.27910	-0.9758	0.35948	T	0.018	0.07659	T	10	0.09729493	0.17512	T	0.012386	0.30920	T	0.023	0.04649	0.185	0.09388	0.530160902827	0.52664	0.5457914988815303	0.54505	0.225690265536	0.25117	0.637741088867	0.58243	T	0.014832	0.17967	T	-0.310354	0.07717	T	-0.683579	0.06767	T	0.0752220303383509	0.09365	T	0.727427	0.34191	T	0.045830645	0.07568	0.112346485	0.27107	0.045830645	0.07567	0.112346485	0.27106	-3.269	0.13340	T	.	.	0.102	0.18950	B	.;.;.;.	.;.;.;.	1.104405	0.14890	11.41	0.85277597427398022	0.15793	0.37278	0.25725	N	ALL	0.097632	0.19687	N	-1.00060504217151	0.08591	0.4034117	-0.960995065666132	0.10670	0.5388152	0.999999999764636	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.1	2.29	0.27658	1.071000	0.30278	0.164000	0.15440	0.511000	0.23309	0.011000	0.18532	0.000000	0.08366	0.007000	0.07825	0.0:0.7428:0.0:0.2572	7.463	0.26474	607	0.67291	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	918.33	36	chr2	85616397	.	C	T	918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.906;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.113;SOR=0.752	GT:AD:DP:GQ:PL	0/1:27,38:65:99:932,0,679	18	0	1	0
chr2	88182798	88182798	C	T	exonic	THNSL2	.	nonsynonymous SNV	THNSL2:NM_001244678:exon4:c.C428T:p.S143F,THNSL2:NM_001384382:exon5:c.C428T:p.S143F,THNSL2:NM_001384383:exon5:c.C902T:p.S301F,THNSL2:NM_001244676:exon6:c.C902T:p.S301F,THNSL2:NM_018271:exon6:c.C902T:p.S301F	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.866	0.402521880167	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs759180679	1.231e-05	1.231e-05	9.528e-06	1.513e-05	0.0003	7.7e-06	6.35e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-06	9.935e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.79402	D	0.815	0.61523	P	0.395	0.61001	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.98	0.85499	M	-4.14	0.96772	D	-4.71	0.82341	D	0.807	0.81758	1.070	0.98577	D	0.939	0.98010	D	10	0.85915864	0.85127	D	0.402522	0.93428	D	0.866	0.95949	0.467	0.53891	0.886442875499	0.88532	0.6766900977145784	0.67608	0.446624210647	0.44532	0.473755657673	0.35197	T	0.657046	0.89662	D	0.470808	0.93367	D	0.438506	0.93283	D	0.990826189517975	0.81058	D	0.928507	0.73679	D	0.8902779	0.90531	0.89440924	0.94579	0.8902779	0.90533	0.89440924	0.94579	-11.035	0.79975	D	.	.	0.409	0.62048	A	.;.;.	.;.;.	5.065374	0.84448	28.3	0.9984163067443681	0.92229	0.97367	0.74301	D	AEFGBI	0.908276	0.86338	D	0.766647386403842	0.83984	8.162899	0.753409923339131	0.86409	8.880749	0.999999999990469	0.74766	0.623552	0.39893	0	0.610034	0.51514	0	0.667671	0.60360	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	7.041000	0.76279	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.795000	0.37519	0.0:1.0:0.0:0.0	19.050	0.93023	952	0.10565	.;.;Pyridoxal-phosphate dependent enzyme	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2276.33	44	chr2	88182798	.	C	T	2276.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.068;DP=838;ExcessHet=0;FS=11.258;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.732;SOR=0.29	GT:AD:DP:GQ:PL	0/1:96,90:186:99:2290,0,2457	18	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	5735.91	312	chr2	94876587	.	C	A	5735.91	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.916;DP=3920;ExcessHet=11.1788;FS=8.574;InbreedingCoeff=-0.4693;MLEAC=12;MLEAF=0.316;MQ=58.28;MQRankSum=-15.51;QD=1.91;ReadPosRankSum=-3.532;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:243,22:265:99:0|1:94876587_C_A:192,0,10017:94876587	7	0	12	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	26792.8	425	chr2	94876618	.	C	G	26792.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.341;DP=5489;ExcessHet=20.8569;FS=1.497;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.4;MQRankSum=-17.98;QD=5.28;ReadPosRankSum=-2.883;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:294,73:367:99:0|1:94876587_C_A:2180,0,12125:94876587	4	0	15	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.4474	37055.9	473	chr2	94876632	.	C	T	37055.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-5.11;DP=6526;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.07;MQRankSum=-18.76;QD=5.89;ReadPosRankSum=-1.429;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:315,81:396:99:0|1:94876587_C_A:2361,0,12942:94876587	2	0	17	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	43084.9	563	chr2	94876671	.	A	G	43084.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.332;DP=7395;ExcessHet=31.086;FS=1.384;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.94;MQRankSum=-20.34;QD=5.94;ReadPosRankSum=4.74;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:341,90:431:99:0|1:94876671_A_G:2753,0,13930:94876671	2	0	17	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.4474	46132.9	570	chr2	94876674	.	G	A	46132.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.405;DP=7437;ExcessHet=31.086;FS=0.657;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.92;MQRankSum=-20.34;QD=6.34;ReadPosRankSum=4.97;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:343,90:433:99:0|1:94876671_A_G:2747,0,14014:94876671	2	0	17	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4211	17880.0	561	chr2	94876731	.	C	T	17880.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.372;DP=6867;ExcessHet=25.4433;FS=3.492;InbreedingCoeff=-0.7272;MLEAC=16;MLEAF=0.421;MQ=57.57;MQRankSum=-19.85;QD=2.71;ReadPosRankSum=-1.021;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:378,72:450:99:.:.:1011,0,10059:.	3	0	16	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:202,72:274:99:1730,0,5642	0	0	19	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	.	.	.	.	.	.	.	.	0.033	.	.	.	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	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.3684	3255.24	342	chr2	95855406	.	C	G	3255.24	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.246;DP=5290;ExcessHet=17.0548;FS=5.715;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=53.82;MQRankSum=-6.005;QD=0.86;ReadPosRankSum=-2.675;SOR=1.39	GT:AD:DP:GQ:PL	0/1:273,30:303:99:191,0,7984	5	0	14	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	60963.4	298	chr2	95855549	.	T	C	60963.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.128;DP=6596;ExcessHet=48.2876;FS=13.468;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.36;MQRankSum=-12.9;QD=9.49;ReadPosRankSum=0.896;SOR=1.314	GT:AD:DP:GQ:PL	0/1:201,193:394:99:4317,0,5507	0	0	19	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	48661.4	222	chr2	95855576	.	A	G	48661.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.413;DP=5637;ExcessHet=48.2876;FS=28.241;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=46.08;MQRankSum=-12.28;QD=8.91;ReadPosRankSum=-3.201;SOR=1.955	GT:AD:DP:GQ:PL	0/1:192,125:317:99:3256,0,5479	0	0	19	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36166.4	226	chr2	95855588	.	T	C	36166.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.66;DP=5339;ExcessHet=48.2876;FS=33.512;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.33;MQRankSum=-11.31;QD=6.95;ReadPosRankSum=-3.814;SOR=2.254	GT:AD:DP:GQ:PL	0/1:190,96:286:99:2456,0,5559	0	0	19	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	4805.56	85	chr2	95859895	.	T	C	4805.56	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.153;DP=1801;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5223;MLEAC=13;MLEAF=0.342;MQ=58.06;MQRankSum=-0.944;QD=3.74;ReadPosRankSum=0.717;SOR=0.594	GT:AD:DP:GQ:PL	0/1:88,14:102:99:323,0,3610	6	0	13	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29493.3	133	chr2	95859969	.	A	AT	29493.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.426;DP=2924;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-8.967;QD=10.26;ReadPosRankSum=0.47;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,57:160:99:0|1:95859969_A_AT:2055,0,4127:95859969	0	0	19	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29433.3	135	chr2	95859970	.	G	T	29433.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.157;DP=2921;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-9.055;QD=10.21;ReadPosRankSum=0.274;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,57:161:99:0|1:95859969_A_AT:2052,0,4161:95859969	0	0	19	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29033.3	133	chr2	95859975	.	C	T	29033.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.208;DP=2893;ExcessHet=48.2876;FS=5.618;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.84;MQRankSum=-9;QD=10.11;ReadPosRankSum=0.168;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,56:161:99:0|1:95859969_A_AT:2035,0,4186:95859969	0	0	19	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26746.3	132	chr2	95859988	.	T	C	26746.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.252;DP=2861;ExcessHet=48.2876;FS=6.76;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.72;MQRankSum=-8.913;QD=9.48;ReadPosRankSum=-0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:106,55:161:99:1992,0,2569	0	0	19	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18752.3	122	chr2	95860002	.	T	A	18752.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.06;DP=2730;ExcessHet=48.2876;FS=6.113;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.68;MQRankSum=-8.443;QD=6.95;ReadPosRankSum=-0.759;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,43:148:99:0|1:95860002_T_A:1490,0,4141:95860002	0	0	19	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23267.3	119	chr2	95860007	.	A	T	23267.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.68;DP=2659;ExcessHet=48.2876;FS=7.204;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.65;MQRankSum=-8.406;QD=8.8;ReadPosRankSum=-1.07;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,39:141:99:0|1:95860002_T_A:1331,0,4074:95860002	0	0	19	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20158.3	113	chr2	95860020	.	G	A	20158.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.619;DP=2471;ExcessHet=48.2876;FS=6.268;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.59;MQRankSum=-8.166;QD=8.31;ReadPosRankSum=-1.454;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,36:134:99:0|1:95860020_G_A:1217,0,3978:95860020	0	0	19	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19380.3	111	chr2	95860023	.	A	C	19380.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.39;DP=2404;ExcessHet=48.2876;FS=7.636;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.56;MQRankSum=-8.267;QD=8.09;ReadPosRankSum=-1.399;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,36:133:99:0|1:95860020_G_A:1220,0,3943:95860020	0	0	19	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11904.3	89	chr2	95860046	.	C	A	11904.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.751;DP=1934;ExcessHet=48.2876;FS=11.691;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.24;MQRankSum=-9.124;QD=6.3;ReadPosRankSum=-0.315;SOR=1.619	GT:AD:DP:GQ:PL	0/1:85,22:107:99:669,0,2128	0	0	19	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,46:188:99:0|1:95927222_G_GAT:1504,0,5824:95927222	0	0	19	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	26377.3	184	chr2	95927226	.	GTT	G	26377.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.39;DP=3487;ExcessHet=48.2876;FS=11.32;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.52;MQRankSum=-10.76;QD=7.59;ReadPosRankSum=-5.284;SOR=1.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,59:213:99:0|1:95927222_G_GAT:2014,0,6289:95927222	0	0	19	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	35910.4	215	chr2	95927234	.	T	C	35910.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.871;DP=3849;ExcessHet=48.2876;FS=7.304;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.28;MQRankSum=-11.77;QD=9.36;ReadPosRankSum=-6.004;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,72:231:99:0|1:95927222_G_GAT:2545,0,6460:95927222	0	0	19	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	63959.4	272	chr2	95927252	.	A	G	63959.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.312;DP=4936;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.51;MQRankSum=-14.02;QD=13;ReadPosRankSum=-5.496;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,112:299:99:0|1:95927222_G_GAT:4140,0,7515:95927222	0	0	19	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87835.4	322	chr2	95927268	.	C	A	87835.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-5.958;DP=5895;ExcessHet=48.2876;FS=3.314;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.8;MQRankSum=-15.82;QD=14.94;ReadPosRankSum=-3.622;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,152:364:99:0|1:95927222_G_GAT:5724,0,8440:95927222	0	0	19	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89248.4	328	chr2	95927277	.	C	T	89248.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-6.782;DP=6158;ExcessHet=48.2876;FS=4.127;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.73;MQRankSum=-16.01;QD=14.73;ReadPosRankSum=-1.494;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:220,157:377:99:0|1:95927222_G_GAT:5829,0,8607:95927222	0	0	19	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,80:216:99:0|1:95929092_T_C:2872,0,5404:95929092	0	0	19	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	49331.4	246	chr2	95929110	.	A	G	49331.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=8.94;DP=4414;ExcessHet=48.2876;FS=9.734;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=45.28;MQRankSum=-9.563;QD=11.19;ReadPosRankSum=-2.139;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,96:260:99:0|1:95929092_T_C:3537,0,6575:95929092	0	0	19	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	66098.4	287	chr2	95929126	.	C	A	66098.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.33;DP=5158;ExcessHet=48.2876;FS=18.99;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.08;MQRankSum=-9.946;QD=12.83;ReadPosRankSum=-1.47;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,127:311:99:0|1:95929092_T_C:4779,0,7344:95929092	0	0	19	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71010.4	295	chr2	95929130	.	G	C	71010.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.88;DP=5365;ExcessHet=48.2876;FS=20.95;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.69;MQRankSum=-9.89;QD=13.27;ReadPosRankSum=-1.093;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,137:324:99:0|1:95929092_T_C:5190,0,7440:95929092	0	0	19	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	74075.4	304	chr2	95929135	.	C	T	74075.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.95;DP=5621;ExcessHet=48.2876;FS=22.763;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.18;MQRankSum=-9.69;QD=13.51;ReadPosRankSum=-1.078;SOR=1.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,141:334:99:0|1:95929092_T_C:5297,0,7615:95929092	0	0	19	0
chr2	96651892	96651892	G	A	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon7:c.G505A:p.V169I	.	428	1073	21	0	0	21	0.00969082	0.9833	0.766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	.	0.00139776	0.0016	0	0	0	0	0.0003	0	0.0042	0.0003558	55	154602	rs551147801	0.0006	0.0006	0.0004	0.0008	0.0051	0.0006	0.0006	0.0047	0.0046	3.165e-05	0.0008	0.0010	0	0.0001	0.0040	0.0003	0.0010	0.0051	0.0005	0.0005	0.0004	0.0006	0.0041	0.0004	0.0004	0.0027	0.0023	2.407e-05	0	0.0012	0.0017	0	0	0.0034	0.0003	0.0014	0.0041	.	.	.	1.0	0.01155	T	0.905	0.49920	P	0.805	0.58399	P	0.001259	0.39669	N	0.000000	.	.	.	1.315	0.32790	L	.	.	.	.	.	.	0.208	0.23125	-0.6983	0.60519	T	0.252	0.62154	T	7	0.008345634	0.00189	T	.	.	.	.	.	0.42	0.46200	0.0762999501168	0.06990	0.1784777294692949	0.17766	.	.	0.360017836094	0.19389	T	0.023363	0.17850	T	-0.2825	0.10405	T	-0.178576	0.56655	T	0.232966984635278	0.22092	T	0.682032	0.29555	T	0.08571195	0.19893	0.26364842	0.52174	0.08571195	0.19892	0.26364842	0.52173	-3.351	0.14404	T	.	.	0.129	0.32922	B	.;.;.	.;.;.	3.357735	0.46337	22.3	0.8940959130885785	0.18772	0.85141	0.44249	D	AEFBI	.	.	.	0.514035707327495	0.67921	5.14641	0.55623933869242	0.71832	5.715402	0.760659097695506	0.23504	0.162113	0.03585	0	0.060609	0.00678	0	0.175069	0.04249	0	0.075334	0.01956	0	0.976725	0.80079	5.69	5.69	0.88346	2.895000	0.48347	9.871000	0.82128	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:0.0:1.0:0.0	16.729	0.85290	202	0.92131	C2 domain|C2 domain;C2 domain|C2 domain|Ferlin, second C2 domain;C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003641	0.000000	0.000000	0.004310	0.000000	0.000000	0.012048	0.000000	0.02632	1831.33	33	chr2	96651892	.	G	A	1831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.217;DP=806;ExcessHet=0;FS=2.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-1.204;SOR=0.92	GT:AD:DP:GQ:PL	0/1:100,80:180:99:1845,0,2459	18	0	1	0
chr2	97113752	97113752	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon1:c.A13G:p.K5E,ANKRD36:NM_198555:exon1:c.A13G:p.K5E	.	430	1070	21	1	0	23	0.0106334	.	.	.	2812123	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00165992481869	.	.	0.0004	0	0.0005	0	0	0.0006	0	0.0001	3.88e-05	6	154602	rs774044606	0.0012	0.0017	0.0012	0.0013	0.0075	0.0012	0.0011	0.0057	0.0051	0.0001	0.0018	0.0001	2.556e-05	0.0008	0.0075	0.0013	0.0022	0.0007	0.0025	0.0026	0.0026	0.0024	0.0041	0.0023	0.0022	0.0036	0.0035	0.0006	0	0.0034	0	0.0006	0.0015	0.0207	0.0041	0.0048	0.0009	1.0	0.00964	T	1.0	0.07617	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	1.41	0.33412	T	0.67	0.02263	N	0.038	0.05929	-1.0291	0.20746	T	0.030	0.12760	T	8	0.008763403	0.00198	T	0.00166	0.02728	T	0.010	0.01040	.	.	0.0762999501168	0.06990	.	.	.	.	0.503748595715	0.39350	T	0.00329	0.02698	T	-0.388821	0.02738	T	-0.796291	0.01997	T	0.0041556169877256	0.00044	T	0.228877	0.03057	T	0.06290562	0.13190	0.098388776	0.23454	0.06290562	0.13189	0.098388776	0.23454	-2.875	0.08896	T	.	.	0.076	0.44872	B	.;.;.;.	.;.;.;.	-1.401056	0.00359	0.006	0.1199548739821252	0.00196	0.01015	0.03823	N	ALL	0.014133	0.00214	N	-1.83159160776058	0.00472	0.02032915	-1.92702046445657	0.00433	0.019136	0.999831654930162	0.43792	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	0.453	-0.905	0.09992	-4.521000	0.00254	-3.530000	0.02717	-3.502000	0.00080	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	224	0.91330	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008985	0.000000	0.004076	0.000000	0.000000	0.008621	0.015244	0.026515	0.05263	4887.83	198	chr2	97113752	.	A	G	4887.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.24;DP=983;ExcessHet=0.119;FS=0.804;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.08;MQRankSum=-1.888;QD=12.97;ReadPosRankSum=-0.562;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,82:179:99:.:.:1972,0,2483:.	17	0	2	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	9025.83	153	chr2	97185336	.	GC	G	9025.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.382;DP=2743;ExcessHet=31.086;FS=1.658;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=47.08;MQRankSum=-6.249;QD=3.62;ReadPosRankSum=0.503;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,24:143:99:1|0:97185332_A_G:650,0,4925:97185332	2	0	17	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8913.86	155	chr2	97185340	.	C	G	8913.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.075;DP=2782;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.92;MQRankSum=-5.789;QD=3.53;ReadPosRankSum=0.964;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,24:146:99:1|0:97185332_A_G:641,0,5051:97185332	2	0	17	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8891.83	152	chr2	97185341	.	A	AG	8891.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.346;DP=2792;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=46.81;MQRankSum=-5.722;QD=3.51;ReadPosRankSum=1.18;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,24:147:99:1|0:97185332_A_G:638,0,5093:97185332	2	0	17	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8743.83	157	chr2	97185345	.	GTAAT	G	8743.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.208;DP=2918;ExcessHet=31.086;FS=1.743;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.15;MQRankSum=-5.332;QD=3.29;ReadPosRankSum=2.28;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,24:154:99:1|0:97185332_A_G:616,0,5386:97185332	2	0	17	0
chr2	97217352	97217352	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon64:c.G3755A:p.G1252D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00178122432125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.153e-07	1.368e-06	0	1.45e-06	1.266e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.266e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.19500	T	0.697	0.05786	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.325	0.03546	N	0.62	0.53302	T	-0.52	0.16187	N	0.042	0.01498	-1.0525	0.13709	T	0.035	0.14857	T	8	0.06608343	0.09011	T	0.001781	0.03037	T	0.029	0.06676	0.351	0.34922	0.0297737177859	0.01360	.	.	.	.	0.575203418732	0.49410	T	7.11E-4	0.00326	T	-0.336777	0.05614	T	-0.721534	0.04722	T	0.0483558394652632	0.05207	T	0.374563	0.08910	T	0.051813785	0.09572	0.09743006	0.23190	0.051813785	0.09572	0.09743006	0.23190	.	.	.	.	.	0.136	0.29724	B	.;.	.;.	-1.978316	0.00106	0.002	0.43911570116371529	0.03339	0.00034	0.00302	N	AEFBI	0.013973	0.00205	N	-1.96103376664724	0.00256	0.01098617	-2.01166704167269	0.00289	0.0127759	7.11441546047313E-5	0.04552	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	0.569	-1.14	0.09241	-1.289000	0.02888	-1.280000	0.05829	-4.540000	0.00026	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	205	0.92010	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	180.33	74	chr2	97217352	.	G	A	180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=1625;ExcessHet=0;FS=2.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.26;MQRankSum=-4.219;QD=1.8;ReadPosRankSum=0.196;SOR=1.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,11:100:99:0|1:97217350_A_G:194,0,3635:97217350	18	0	1	0
chr2	97243965	97243965	C	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4427A:p.P1476Q	.	591	842	87	2	0	91	0.0512676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.000600742623665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879789998	6.907e-07	6.843e-07	0	1.389e-06	2.324e-05	0	0	.	.	0	2.324e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.01938	T	0.828	0.03739	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.445	0.00556	N	2.52	0.14160	T	4.39	0.00039	N	0.233	0.26233	-0.9411	0.42442	T	0.006	0.02093	T	9	0.030890793	0.01219	T	6.01E-4	0.00274	T	0.044	0.11924	.	.	0.0401082797425	0.02173	.	.	.	.	0.80995708704	0.83485	D	0.007683	0.07071	T	-0.355694	0.04379	T	-0.748706	0.03536	T	0.0436866157378679	0.04362	T	0.315568	0.06252	T	0.02105173	0.00688	0.043300506	0.05356	0.02105173	0.00688	0.043300506	0.05356	.	.	.	.	.	0.071	0.03925	B	.;.	.;.	0.290474	0.06670	3.169	0.19759172413942741	0.00681	0.00555	0.02537	N	AEFI	0.011953	0.00118	N	-1.76782903256606	0.00629	0.02711347	-1.6686180707587	0.01283	0.05784733	1.10704589977209E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.145	0.14124	1.831000	0.38781	2.064000	0.30409	-0.484000	0.05061	0.987000	0.36337	0.011000	0.20116	0.002000	0.04165	0.4439:0.2817:0.0:0.2744	2.431	0.04199	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2105	1112.14	36	chr2	97243965	.	C	A	1112.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.5;DP=1690;ExcessHet=4.0268;FS=20.316;InbreedingCoeff=-0.2647;MLEAC=8;MLEAF=0.211;MQ=38.8;MQRankSum=-3.599;QD=0.97;ReadPosRankSum=-1.119;SOR=2.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:137,13:150:69:.:.:69,0,5654:.	11	0	8	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2895	3701.21	121	chr2	97243982	.	A	G	3701.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.663;DP=1984;ExcessHet=8.9063;FS=10.685;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=38.55;MQRankSum=-3.708;QD=2.45;ReadPosRankSum=-0.591;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,16:132:99:0|1:97243981_C_T:323,0,4806:97243981	8	0	11	0
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.3158	4295.86	115	chr2	97243989	.	C	T	4295.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.133;DP=2005;ExcessHet=11.1788;FS=8.896;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=38.19;MQRankSum=-3.269;QD=2.7;ReadPosRankSum=0.333;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,16:128:99:0|1:97243981_C_T:335,0,4650:97243981	7	0	12	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,99:227:99:0|1:97513219_T_C:3741,0,5077:97513219	0	1	18	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,107:244:99:0|1:97513219_T_C:4050,0,5389:97513219	0	1	18	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,123:271:99:0|1:97513244_G_T:4719,0,5787:97513244	0	1	18	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5263	90004.0	197	chr2	97513253	.	A	G	90004.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.442;DP=4968;ExcessHet=38.2876;FS=3.203;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.26;ReadPosRankSum=-0.22;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,129:282:99:0|1:97513244_G_T:4956,0,5940:97513244	0	1	18	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5263	90016.0	197	chr2	97513254	.	C	T	90016.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.225;DP=4978;ExcessHet=38.2876;FS=3.233;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.28;ReadPosRankSum=-0.275;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,129:282:99:0|1:97513244_G_T:4956,0,5940:97513244	0	1	18	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5263	97631.0	207	chr2	97513268	.	C	T	97631.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.519;DP=5204;ExcessHet=38.2876;FS=2.457;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.34;MQRankSum=-4.276;QD=18.86;ReadPosRankSum=0.097;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,142:300:99:0|1:97513268_C_T:5466,0,6207:97513268	0	1	18	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5263	95844.0	211	chr2	97513270	.	A	C	95844.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.821;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.42;MQRankSum=-4.193;QD=18.3;ReadPosRankSum=-0.308;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,147:306:99:0|1:97513268_C_T:5613,0,6234:97513268	0	1	18	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5263	98710.0	209	chr2	97513271	.	T	C	98710.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.177;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.46;MQRankSum=-4.272;QD=18.84;ReadPosRankSum=-0.525;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,146:305:99:0|1:97513268_C_T:5591,0,6237:97513268	0	1	18	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5263	99301.0	210	chr2	97513281	.	C	T	99301.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.601;DP=5349;ExcessHet=38.2876;FS=2.432;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.86;MQRankSum=-4.794;QD=18.72;ReadPosRankSum=-0.367;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,154:314:99:0|1:97513268_C_T:5731,0,6196:97513268	0	1	18	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	23586.3	111	chr2	97513354	.	T	C	23586.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.38;DP=3107;ExcessHet=48.2876;FS=1.966;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=39.22;MQRankSum=-3.517;QD=7.83;ReadPosRankSum=0.701;SOR=0.53	GT:AD:DP:GQ:PL	0/1:103,69:172:99:1437,0,2491	0	0	19	0
chr2	99105434	99105434	A	C	exonic	TSGA10	.	nonsynonymous SNV	TSGA10:NM_001349012:exon7:c.T384G:p.I128M,TSGA10:NM_001349013:exon8:c.T384G:p.I128M,TSGA10:NM_001349014:exon8:c.T384G:p.I128M,TSGA10:NM_182911:exon8:c.T384G:p.I128M,TSGA10:NM_025244:exon9:c.T384G:p.I128M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0650983533095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.17821	T	0.153	0.32144	T	0.999	0.77913	D	0.997	0.86255	D	0.000015	0.62929	D	0.000000	0.91559	0.36530	D	2.14	0.59869	M	0.76	0.78199	T	-1.12	0.30762	N	0.447	0.48689	-0.0607	0.80978	T	0.475	0.79872	T	10	0.25622073	0.43023	T	0.065098	0.69478	D	0.175	0.44197	0.119	0.02647	0.714430744804	0.71192	0.24371171187646787	0.24285	0.458275355136	0.45440	0.716483592987	0.69535	T	0.047323	0.27688	T	0.0810979	0.62169	D	-0.121285	0.61697	T	0.913748204708099	0.57013	D	0.870713	0.58680	D	0.15952277	0.35830	0.15141152	0.35667	0.15952277	0.35829	0.15141152	0.35667	-8.303	0.63115	D	.	.	0.283	0.55930	B	.;.;.;.;.	.;.;.;.;.	3.438295	0.47819	22.5	0.99241809446599394	0.56565	0.81692	0.41045	D	AEFI	0.464606	0.51303	N	0.465022713398048	0.65062	4.775233	0.462455115220923	0.65520	4.834263	0.0036828467864577	0.10235	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	4.98	4.98	0.65679	1.875000	0.39214	4.993000	0.46541	0.735000	0.85950	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8374:0.0:0.0:0.1626	9.150	0.36117	335	0.86220	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1378.33	35	chr2	99105434	.	A	C	1378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.531;DP=843;ExcessHet=0;FS=0.718;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.303;SOR=0.585	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1392,0,1625	18	0	1	0
chr2	100990347	100990347	C	T	exonic	NPAS2	.	nonsynonymous SNV	NPAS2:NM_002518:exon18:c.C1919T:p.A640V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00453436806559	.	.	3.298e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs772104477	1.505e-05	1.505e-05	5.445e-06	2.475e-05	0.0001	9.85e-06	8.41e-06	5.395e-05	4.042e-05	0	0	0	0	0	0	1.079e-05	1.656e-05	0.0001	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	1.0	0.00964	T	0.385	0.15746	T	0.005	0.12996	B	0.0	0.01387	B	0.118661	0.02705	N	2.104730	1	0.08975	N	-0.755	0.01709	N	3.67	0.04188	T	0.6	0.02518	N	0.028	0.00618	-0.9559	0.39934	T	0.004	0.01226	T	10	0.020392358	0.00469	T	0.004534	0.11157	T	0.031	0.07369	.	.	0.322865848456	0.31899	0.18318000066817058	0.18236	0.281612833915	0.30635	0.309588015079	0.11845	T	0.038936	0.25016	T	-0.460885	0.00971	T	-0.697152	0.05983	T	0.0140284754281385	0.00271	T	0.290471	0.05292	T	0.012743599	0.00040	0.025755653	0.00632	0.012743599	0.00040	0.025755653	0.00632	-4.067	0.24802	T	0.04680527209110874	0.00656	0.053	0.00254	B	.	.	-0.220504	0.02987	0.448	0.74560062188575627	0.10741	0.00172	0.01016	N	AEFDBI	0.024767	0.01585	N	-1.69810909602811	0.00849	0.03670527	-1.61556794381814	0.01563	0.07086446	0.802884173400202	0.24217	0.706548	0.73137	0	0.573888	0.26702	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	4.68	-0.785	0.10397	-0.620000	0.05661	-2.037000	0.04308	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.1206:0.3747:0.124:0.3807	2.904	0.05365	725	0.54935	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2394.33	33	chr2	100990347	.	C	T	2394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.632;DP=791;ExcessHet=0;FS=0.607;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=1.02;SOR=0.798	GT:AD:DP:GQ:PL	0/1:62,96:158:99:2408,0,1478	18	0	1	0
chr2	106436830	106436830	C	A	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon10:c.G1301T:p.S434I	.	215	1306	1	0	0	1	0.000382702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0544868067156	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226222375	0.0001	0.0001	6.96e-05	0.0002	0.0018	9.632e-05	9.054e-05	0.0016	0.0015	0	0	0	0	0	0	0	0.0002	0.0018	4.819e-05	9.427e-05	1.775e-05	8.437e-05	0.0013	1.809e-05	1.223e-05	0.0003	0.0002	7.128e-05	0	0	0	0	0	0	0	0	0.0013	0.002	0.72154	D	0.001	0.83351	D	0.61	0.39628	P	0.094	0.30180	B	.	.	.	.	0.982832	0.24933	N	2.36	0.67893	M	-1.82	0.84047	D	-3.61	0.69477	D	0.475	0.58543	-0.5715	0.65955	T	0.386	0.74143	T	9	0.06451008	0.08565	T	0.054487	0.65874	D	0.360	0.68052	0.411	0.44723	0.427829143865	0.42401	0.17500017144937907	0.17419	.	.	0.819028973579	0.84880	D	0.159339	0.50274	T	-0.248893	0.14234	T	-0.134597	0.60582	T	0.252673136639034	0.22992	T	0.940106	0.77361	D	0.23578289	0.46419	0.24945699	0.50517	0.23578289	0.46419	0.24945699	0.50516	-4.527	0.31240	T	.	.	0.255	0.48938	B	.;.	.;.	3.426603	0.47601	22.5	0.97550424860676987	0.34566	0.86365	0.45631	D	AEFI	0.397104	0.47331	N	-0.196003461962889	0.33300	1.887686	-0.217123143235881	0.30922	1.745283	2.34418188109914E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.52	1.62	0.22817	4.070000	0.57267	2.778000	0.34716	0.288000	0.18739	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.681:0.0:0.319	4.723	0.12305	904	0.23766	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	114.39	7	chr2	106436830	.	C	A	114.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.652;DP=291;ExcessHet=0;FS=0;InbreedingCoeff=-0.0309;MLEAC=1;MLEAF=0.026;MQ=25.65;MQRankSum=-0.494;QD=7.63;ReadPosRankSum=0.573;SOR=0.399	GT:AD:DP:GQ:PL	0/1:9,6:15:99:128,0,231	18	0	1	0
chr2	112781781	112781781	T	C	exonic	IL1A	.	nonsynonymous SNV	IL1A:NM_000575:exon4:c.A142G:p.M48V,IL1A:NM_001371554:exon4:c.A142G:p.M48V	.	421	1096	5	0	0	5	0.00227583	.	.	.	3192472	IL1A-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.016	.	.	0.00239617	0.0012	9.61e-05	0.0003	0.0002	0	0.0001	0.0011	0.0078	0.0010608	164	154602	rs369264124	0.0005	0.0005	0.0003	0.0007	0.0074	0.0005	0.0005	0.0069	0.0067	2.987e-05	6.708e-05	0	0	1.872e-05	0.0010	4.047e-05	0.0005	0.0074	0.0003	0.0003	0.0002	0.0005	0.0083	0.0003	0.0002	0.0063	0.0055	0	0	0.0003	0	0.0002	0	0	5.88e-05	0.0009	0.0083	0.735	0.03753	T	0.532	0.10034	T	0.003	0.11197	B	0.005	0.11217	B	0.914614	0.08529	N	0.962343	1	0.08975	N	0.46	0.12951	N	1.0	0.41392	T	-0.8	0.22078	N	0.104	0.08786	-0.9384	0.42869	T	0.059	0.24686	T	10	0.0056381226	0.00125	T	.	.	.	0.016	0.02506	.	.	0.326616659874	0.32268	0.1337213303931991	0.13296	0.34718799159	0.36609	0.287189394236	0.08514	T	0.11704	0.43683	T	-0.665952	0.00058	T	-0.725645	0.04528	T	0.0123537263944126	0.00201	T	0.470553	0.13922	T	0.034499295	0.03882	0.033582523	0.02276	0.034499295	0.03882	0.033582523	0.02276	-2.3	0.04555	T	.	.	0.085	0.10256	B	.	.	-0.487968	0.01906	0.159	0.44223580576665367	0.03385	0.03195	0.08186	N	AEFGBHCI	0.032669	0.03732	N	-1.4482617174076	0.02230	0.0982701	-1.52867040641082	0.02126	0.09732255	0.999999985125046	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	5.68	-6.2	0.01894	-0.990000	0.03842	-0.959000	0.06786	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1284:0.4772:0.1321:0.2623	4.419	0.10897	625	0.65529	Interleukin-1 propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1213.33	33	chr2	112781781	.	T	C	1213.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.637;DP=710;ExcessHet=0;FS=0.834;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-1.327;SOR=0.589	GT:AD:DP:GQ:PL	0/1:37,50:87:99:1227,0,928	18	0	1	0
chr2	113183468	113183468	G	A	exonic	PSD4	.	nonsynonymous SNV	PSD4:NM_012455:exon2:c.G1012A:p.A338T	.	432	1081	8	1	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00181494122261	7.8e-05	.	0.0002	0	0	0	0	0.0002	0.0013	0.0002	0.0001229	19	154602	rs142771344	0.0002	0.0002	0.0002	0.0002	0.0080	0.0002	0.0002	0.0061	0.0055	0.0001	0.0003	0.0004	2.528e-05	0	0.0080	0.0001	0.0005	0.0003	0.0003	0.0003	0.0003	0.0002	0.0010	0.0002	0.0002	0.0007	0.0005	7.218e-05	0	0.0010	0	0	0	0.0238	0.0002	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.003	0.13644	B	0.001	0.04355	B	0.002600	0.00901	N	2.636420	1	0.08975	N	-0.69	0.01958	N	3.0	0.09167	T	0.09	0.05917	N	0.036	0.04668	-0.9669	0.37834	T	0.008	0.02926	T	9	0.018571496	0.00405	T	0.001815	0.03115	T	0.030	0.07022	.	.	0.138757226776	0.13463	0.04444124895240298	0.04388	0.088955365628	0.10057	0.315831273794	0.12790	T	0.006082	0.05517	T	-0.620107	0.00110	T	-0.83503	0.01176	T	0.0118307167033173	0.00184	T	0.345165	0.07572	T	0.07154771	0.15849	0.041474838	0.04721	0.07154771	0.15848	0.041474838	0.04721	-4.32	0.28664	T	.	.	0.067	0.08176	B	.;.	.;.	-1.152780	0.00580	0.014	0.25920794704955197	0.01217	0.01750	0.05513	N	AEFBCI	0.018397	0.00554	N	-1.7248663453284	0.00757	0.0327028	-1.81410424900186	0.00715	0.03185843	0.99999999998961	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.49	-11.0	0.00133	-1.720000	0.01971	-2.975000	0.03176	-1.440000	0.01105	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2116:0.2424:0.3463:0.1997	0.934	0.01256	607	0.67291	.;.	.	.	.	.	.	Likely benign	0	0	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	0.006042	0.005051	0.006793	0.008772	0.000000	0.025862	0.000000	0.003788	0.02632	838.33	44	chr2	113183468	.	G	A	838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.456;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.206;SOR=0.678	GT:AD:DP:GQ:PL	0/1:54,35:89:99:852,0,1400	18	0	1	0
chr2	127955216	127955216	G	A	exonic	SAP130	.	nonsynonymous SNV	SAP130:NM_001330300:exon15:c.C2084T:p.P695L,SAP130:NM_001330303:exon15:c.C2087T:p.P696L,SAP130:NM_024545:exon15:c.C2165T:p.P722L,SAP130:NM_001145928:exon16:c.C2270T:p.P757L,SAP130:NM_001330299:exon16:c.C2189T:p.P730L,SAP130:NM_001330301:exon16:c.C2192T:p.P731L,SAP130:NM_001330302:exon16:c.C2189T:p.P730L	.	.	.	.	.	.	.	.	.	.	.	2325496	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.0051380726183	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs199999073	4.104e-06	4.104e-06	1.361e-06	6.875e-06	5.974e-05	1.48e-06	9.7e-07	9.89e-06	3.7e-06	5.974e-05	0	0	2.519e-05	0	0	2.698e-06	0	0	3.287e-05	3.284e-05	0	6.729e-05	9.657e-05	1.261e-05	7.98e-06	3.25e-05	1.915e-05	9.657e-05	0	0	0	0	0	0	1.47e-05	0	0	0.024	0.47745	D	0.063	0.49390	T	0.487	0.36886	P	0.087	0.29615	B	0.003574	0.34767	N	0.316225	0.990995	0.41283	D	0.695	0.17993	N	.	.	.	-1.22	0.33401	N	0.356	0.40765	-1.0289	0.20811	T	0.091	0.34737	T	9	0.17447358	0.32327	T	0.005138	0.13063	T	0.041	0.10877	0.243	0.17677	0.0675242888579	0.06100	0.1328156232275818	0.13205	0.450744263737	0.44841	0.524847626686	0.42308	T	0.037771	0.24597	T	-0.214522	0.18747	T	-0.376794	0.36096	T	0.524108171463013	0.33517	D	0.928407	0.73561	D	0.06842849	0.14907	0.07025677	0.14906	0.06842849	0.14907	0.07025677	0.14905	-4.563	0.31831	T	.	.	0.087	0.11797	B	.;.;.;.	.;.;.;.	4.691399	0.75173	26.3	0.98140191875863669	0.38597	0.96479	0.69344	D	AEFBI	0.539305	0.55633	D	-0.0561010920494246	0.39331	2.31759	0.0932116267891038	0.44206	2.706887	0.960749127832963	0.28509	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	6.459000	0.73429	9.755000	0.81488	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	17.953	0.88979	553	0.71930	.;Histone deacetylase complex subunit SAP130, C-terminal domain;Histone deacetylase complex subunit SAP130, C-terminal domain;Histone deacetylase complex subunit SAP130, 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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2430.33	33	chr2	127955216	.	G	A	2430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.04;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=-0.632;SOR=0.718	GT:AD:DP:GQ:PL	0/1:60,81:141:99:2444,0,1498	18	0	1	0
chr2	128268254	128268254	G	A	exonic	HS6ST1	.	nonsynonymous SNV	HS6ST1:NM_004807:exon2:c.C1144T:p.R382W	.	2	1501	17	2	0	21	0.00694674	.	.	.	178326	Hypogonadotropic_hypogonadism_15_with_or_without_anosmia|not_specified|Hypogonadotropic_hypogonadism_7_with_or_without_anosmia|HYPOGONADOTROPIC_HYPOGONADISM_15_WITH_OR_WITHOUT_ANOSMIA,_SUSCEPTIBILITY_TO|HS6ST1-related_disorder|not_provided	MONDO:MONDO:0013946,MedGen:C3553977,OMIM:614880,Orphanet:478|MedGen:CN169374|MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432|.|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.634	.	0.0005	0.00199681	0.0022	0.0007	0.0011	0.0001	0	0.0005	0	0.0123	0.0018111	280	154602	rs199538589	0.0012	0.0012	0.0009	0.0016	0.0118	0.0012	0.0011	0.0112	0.0110	0.0006	0.0008	0.0032	0.0003	0	0.0037	0.0005	0.0013	0.0118	0.0010	0.0010	0.0008	0.0012	0.0122	0.0009	0.0008	0.0097	0.0088	0.0009	0	0.0007	0.0026	0.0002	0	0.0068	0.0005	0.0005	0.0122	0.002	0.72154	D	0.002	0.79402	D	0.997	0.70673	D	0.73	0.55268	P	0.017530	0.27701	N	0.418082	0.994266	0.42219	D	2.085	0.57729	M	-1.88	0.84487	D	-2.83	0.59710	D	0.852	0.84817	0.389	0.88936	D	0.661	0.88231	D	9	0.018632412	0.00407	T	.	.	.	0.634	0.85975	.	.	0.819291598037	0.81758	0.5040630473211578	0.50328	.	.	0.839391112328	0.88003	D	0.488452	0.81409	T	-0.117225	0.33577	T	0.0682329	0.74792	D	0.0266707779836263	0.01498	T	0.938606	0.76932	D	0.19860494	0.41769	0.24489604	0.49966	0.24586004	0.47549	0.2792515	0.53891	-7.896	0.60359	D	0.3949869659013052	0.48764	0.292	0.52335	B	.	.	5.207776	0.87384	29.2	0.998532613914344	0.93279	0.96498	0.69439	D	AEFGBI	0.465561	0.51358	N	0.406920813015504	0.61803	4.386344	0.347388840391108	0.58350	4.005064	0.995860555628383	0.34373	0.609539	0.35627	0	0.633656	0.55848	0	0.493711	0.08198	1	0.635551	0.53088	0	.	.	4.48	4.48	0.53973	5.539000	0.66909	8.483000	0.77305	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.418000	0.27184	0.0:0.0:1.0:0.0	17.538	0.87737	411	0.82069	.	.	.	.	.	.	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	0.006959	0.005102	0.006793	0.004167	0.000000	0.034483	0.003165	0.011538	0.02632	1539.33	34	chr2	128268254	.	G	A	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=797;ExcessHet=0;FS=14.525;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.58;MQRankSum=1.67;QD=11.75;ReadPosRankSum=1.55;SOR=0.169	GT:AD:DP:GQ:PL	0/1:72,59:131:99:1553,0,1904	18	0	1	0
chr2	131492228	131492228	C	G	exonic	MZT2A	.	nonsynonymous SNV	MZT2A:NM_001085365:exon1:c.G149C:p.G50A	.	399	1121	2	0	0	2	0.000891266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0002	0.00379393	0.0006	0.0049	0.0009	0.0004	0	0.0004	0	0	0.0005304	82	154602	rs10178851	0.0010	0.0011	0.0011	0.0009	0.0263	0.0009	0.0009	0.0248	0.0243	0.0263	0.0009	7.819e-05	0.0002	0.0002	0.0024	0.0003	0.0021	0.0002	0.0077	0.0078	0.0080	0.0075	0.0263	0.0074	0.0072	0.0250	0.0245	0.0263	0	0.0033	0	0	0	0	0.0003	0.0047	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.029461	0.25452	N	0.448888	1	0.08975	N	-0.985	0.01192	N	1.65	0.27650	T	0.08	0.06026	N	0.096	0.07673	-0.9978	0.30535	T	0.008	0.02638	T	10	0.0037489235	0.00070	T	.	.	.	0.037	0.09474	.	.	0.209622950755	0.20551	0.18854438320404213	0.18772	0.331921115045	0.35258	0.864394664764	0.91757	D	0.001099	0.00611	T	-0.554031	0.00276	T	-0.560642	0.16317	T	0.000291533886464554	0.00002	T	0.149385	0.01246	T	0.024817655	0.01351	0.030575732	0.01530	0.024817655	0.01351	0.030575732	0.01530	0.029	0.00339	T	.	.	0.059	0.00754	B	.	.	1.258560	0.16560	12.62	0.24840320818707706	0.01117	0.02013	0.06052	N	AEFDBCIJ	0.027129	0.02161	N	-1.62724626239063	0.01134	0.04927992	-1.53637662764303	0.02071	0.09470705	0.999912804119052	0.45857	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	2.72	-0.378	0.11875	0.840000	0.27253	.	.	-0.586000	0.04674	0.580000	0.27586	1.000000	0.68203	0.392000	0.26603	0.2562:0.401:0.3428:0.0	3.927	0.08768	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002623	0.005319	0.004155	0.003571	0.000000	0.000000	0.003145	0.000000	0.02632	981.33	38	chr2	131492228	.	C	G	981.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.01;MQRankSum=-7.641;QD=9.26;ReadPosRankSum=2.32;SOR=0.693	GT:AD:DP:GQ:PL	0/1:64,42:106:99:995,0,1602	18	0	1	0
chr2	135350084	135350084	G	T	exonic	ZRANB3	.	nonsynonymous SNV	ZRANB3:NM_001286568:exon5:c.C491A:p.S164Y,ZRANB3:NM_032143:exon5:c.C491A:p.S164Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.935	0.456318075658	.	0.000199681	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs544233017	7.047e-05	7.046e-05	3.54e-05	0.0001	0.0011	5.915e-05	5.524e-05	0.0010	0.0009	0	0	0	0	0	0	1.799e-06	3.313e-05	0.0011	2.628e-05	2.625e-05	0	5.375e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.996	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.555	0.93317	H	-3.36	0.94067	D	-3.81	0.71882	D	0.867	0.87373	1.049	0.98090	D	0.919	0.97328	D	10	0.78653586	0.78295	D	0.456318	0.94433	D	0.935	0.98526	0.705	0.84145	0.915671678084	0.91482	0.7906200967371104	0.79014	0.356834011381	0.37416	0.595841646194	0.52318	T	0.53626	0.84041	D	0.256766	0.79228	D	0.518063	0.94978	D	0.941609084606171	0.61501	D	0.941406	0.78138	D	0.8146269	0.84860	0.76649886	0.86208	0.8146269	0.84861	0.76649886	0.86209	-14.424	0.94353	D	.	.	0.695	0.72737	P	.;.	.;.	5.273101	0.88542	29.6	0.99499700710290673	0.67973	0.99457	0.96268	D	AEFDBI	0.893995	0.83252	D	1.00213663107791	0.95809	13.98837	0.945389739745056	0.97264	15.843	0.999999995056341	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.42	5.42	0.78666	9.947000	0.98954	11.680000	0.94210	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.216	0.93762	760	0.50470	.;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1587.33	33	chr2	135350084	.	G	T	1587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.665;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=-1.03;QD=11.34;ReadPosRankSum=-2.055;SOR=0.643	GT:AD:DP:GQ:PL	0/1:73,67:140:99:1601,0,1841	18	0	1	0
chr2	151463700	151463700	T	C	exonic	RIF1	.	nonsynonymous SNV	RIF1:NM_001177665:exon29:c.T4180C:p.S1394P,RIF1:NM_001177663:exon30:c.T4180C:p.S1394P,RIF1:NM_001177664:exon30:c.T4180C:p.S1394P,RIF1:NM_018151:exon30:c.T4180C:p.S1394P	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00893332246764	7.7e-05	0.000199681	3.316e-05	0	0	0	0	4.523e-05	0	6.079e-05	3.23e-05	5	154602	rs370921071	1.437e-05	1.436e-05	2.042e-05	8.252e-06	0.0001	9.23e-06	7.84e-06	3.349e-05	1.981e-05	0	0	0.0002	0.0001	0	0	8.094e-06	3.312e-05	0	3.284e-05	3.281e-05	3.856e-05	2.687e-05	0.0002	1.26e-05	7.98e-06	.	.	0	0	0	0	0	0	0.0068	1.471e-05	0.0005	0.0002	1.0	0.00964	T	0.475	0.12526	T	0.0	0.02946	B	0.0	0.01387	B	0.850707	0.07056	N	1.064770	1	0.08975	N	-1.25	0.00764	N	1.62	0.28189	T	0.01	0.11728	N	0.026	0.02272	-1.0009	0.29660	T	0.023	0.09787	T	10	0.016160399	0.00340	T	0.008933	0.23535	T	0.021	0.04004	.	.	0.102598925029	0.09809	0.035788549952210376	0.03525	0.0513312634541	0.05647	0.294651567936	0.09606	T	0.103634	0.41247	T	-0.453326	0.01079	T	-0.788318	0.02211	T	0.0166590271508435	0.00425	T	0.362864	0.08399	T	0.03236061	0.03247	0.048025943	0.07045	0.03236061	0.03247	0.048025943	0.07044	-3.899	0.22768	T	.	.	0.047	0.00077	B	.;.;.;.;.	.;.;.;.;.	-0.038766	0.04024	0.922	0.060891861989756595	0.00019	0.04097	0.09562	N	AEFBCI	0.020434	0.00807	N	-1.36673557828273	0.02955	0.1312861	-1.2896947429811	0.04569	0.215807	0.0461090095403894	0.14677	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.19	0.841	0.18052	-0.132000	0.10446	.	.	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.912000	0.44740	0.2291:0.426:0.2734:0.0715	4.708	0.12239	806	0.43582	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2134.33	74	chr2	151463700	.	T	C	2134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.538;DP=1405;ExcessHet=0;FS=1.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-1.554;SOR=0.558	GT:AD:DP:GQ:PL	0/1:71,84:155:99:2148,0,1829	18	0	1	0
chr2	152647886	152647886	G	A	exonic	FMNL2	.	nonsynonymous SNV	FMNL2:NM_052905:exon26:c.G3260A:p.G1087D	.	431	1086	4	1	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.0294165265723	0.0002	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0004	0.0001682	26	154602	rs368904283	0.0001	0.0001	8.716e-05	0.0001	0.0016	9.878e-05	9.287e-05	0.0008	0.0006	0	0	0	0	9.373e-05	0.0016	8.907e-05	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0.0008	8.658e-05	7.251e-05	0.0003	0.0002	2.405e-05	0	0	0	0	0	0.0136	0.0001	0.0005	0.0008	0.045	0.40832	D	0.769	0.04492	T	0.419	0.35307	B	0.168	0.35187	B	.	.	.	.	0.966669	0.81001	D	.	.	.	-0.95	0.75438	T	0.86	0.01712	N	0.298	0.33687	-0.7084	0.60031	T	0.210	0.56946	T	9	0.062619686	0.08035	T	0.029417	0.51930	D	0.385	0.70194	.	.	0.260580752073	0.25663	0.5642980615919432	0.56356	0.444287325335	0.44339	0.62017673254	0.55755	T	.	.	.	-0.254518	0.13550	T	-0.24589	0.50223	T	0.0644711056208471	0.07853	T	0.770923	0.40135	T	.	.	.	.	.	.	.	.	-3.095	0.11239	T	.	.	0.396	0.59341	A	.	.	3.309208	0.45458	22.1	0.9846106724654361	0.41745	0.89244	0.49592	D	AEFDGBCI	0.606107	0.59657	D	0.11596065551476	0.47207	2.949683	0.335135366100619	0.57616	3.928047	0.999999999227754	0.74766	0.722319	0.85440	0	0.694456	0.67091	0	0.698795	0.65105	0	0.741806	0.99463	0	.	.	6.04	6.04	0.98025	5.226000	0.65129	11.920000	0.99804	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	20.589	0.99430	325	0.86759	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1958.33	33	chr2	152647886	.	G	A	1958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.59;DP=765;ExcessHet=0;FS=1.345;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.574;SOR=0.859	GT:AD:DP:GQ:PL	0/1:62,83:145:99:1972,0,1484	18	0	1	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2647	532.04	166	chr2	157321525	.	C	G	532.04	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-3.653;DP=3113;ExcessHet=5.3738;FS=259.756;InbreedingCoeff=-0.3714;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.76;SOR=11.827	GT:AD:DP:GQ:PL	0/1:114,55:172:99:215,0,2366	8	0	9	2
chr2	159984073	159984073	C	A	exonic	PLA2R1	.	nonsynonymous SNV	PLA2R1:NM_001007267:exon13:c.G2038T:p.V680L,PLA2R1:NM_001195641:exon13:c.G2038T:p.V680L,PLA2R1:NM_007366:exon13:c.G2038T:p.V680L	.	449	1072	1	0	0	1	0.0004662	0.9905	0.91	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0017	0.000998403	0.0009	0.0004	0.0008	0	0	0.0014	0.0011	0	0.0008926	138	154602	rs149133741	0.0011	0.0011	0.0011	0.0011	0.0014	0.0011	0.0011	0.0013	0.0013	0.0002	0.0011	0.0008	0	0	0	0.0014	0.0008	5.231e-05	0.0010	0.0010	0.0011	0.0009	0.0016	0.0009	0.0008	0.0014	0.0013	0.0003	0	0.0014	0.0003	0	0	0	0.0016	0.0028	0	0.022	0.48642	D	0.017	0.60337	D	0.838	0.53992	P	0.175	0.45392	B	0.000147	0.49130	N	0.136360	0.999984	0.54805	D	2.005	0.54552	M	2.35	0.16217	T	-1.97	0.47344	N	0.397	0.45331	-1.1336	0.01618	T	0.030	0.12717	T	10	0.021524668	0.00517	T	0.011188	0.28559	T	0.054	0.15330	0.392	0.41606	0.491863012465	0.48820	0.6040406060433965	0.60335	0.151841041816	0.17138	0.625977396965	0.56574	T	0.12513	0.45063	T	-0.41655	0.01800	T	-0.401201	0.33243	T	0.0584062673151493	0.06915	T	0.865113	0.56452	D	0.17347172	0.38098	0.15863046	0.37035	0.17347172	0.38097	0.15863046	0.37035	-5.242	0.42499	T	.	.	0.386	0.59650	A	.;.	.;.	3.874086	0.56268	23.7	0.99481222679063686	0.66904	0.87213	0.46685	D	AEFBCI	0.764658	0.70138	D	0.177242734812633	0.50107	3.203986	0.260791496829948	0.53264	3.496346	0.999999422635396	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.59	4.69	0.58546	2.716000	0.46888	2.168000	0.31032	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.1445:0.8555:0.0:0.0	14.922	0.70493	636	0.64483	C-type lectin-like|C-type lectin-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	0.001008	0.005102	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	239.33	23	chr2	159984073	.	C	A	239.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.912;DP=494;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.1;ReadPosRankSum=0.45;SOR=0.399	GT:AD:DP:GQ:PL	0/1:5,9:14:99:253,0,147	18	0	1	0
chr2	162310791	162310791	C	A	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon2:c.G596T:p.G199V	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	432	1088	2	0	0	2	0.000918274	.	.	.	3094106	Singleton-Merten_syndrome_1|Aicardi-Goutieres_syndrome_7	MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.193	0.0215944150525	.	.	5.897e-05	0	8.905e-05	0	0	0	0	0.0004	4.53e-05	7	154602	rs753834225	2.6e-05	2.599e-05	4.085e-06	4.814e-05	0.0004	1.933e-05	1.693e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.313e-05	0.0004	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.004	0.74150	D	0.998	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.049929	1	0.81001	D	2.985	0.85602	M	1.96	0.45636	T	-3.33	0.93366	D	0.768	0.76573	-0.6440	0.62974	T	0.245	0.61412	T	10	0.29033837	0.46614	T	0.021594	0.44390	T	0.193	0.47281	0.464	0.53404	0.809092775902	0.80730	0.6586831205924255	0.65805	0.215301781691	0.24062	0.372845113277	0.21239	T	0.175736	0.52543	T	-0.146904	0.28798	T	-0.126827	0.61238	T	0.935249507427216	0.60332	D	0.811819	0.46320	T	0.68651557	0.77322	0.5457326	0.73741	0.68651557	0.77323	0.5457326	0.73741	-5.195	0.42929	T	0.6984718404596627	0.77713	0.390	0.67315	A	.;.;.;.	.;.;.;.	3.813240	0.55018	23.6	0.99763348227002757	0.85254	0.95744	0.65969	D	AEFGBI	0.235050	0.35771	N	0.644459101218071	0.76010	6.408377	0.613701920550917	0.75933	6.399212	0.999999949860133	0.74766	0.615465	0.37627	0	0.581341	0.33841	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.81	4.9	0.63643	3.673000	0.54326	4.020000	0.41242	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:0.8663:0.1337:0.0	16.043	0.80504	544	0.72685	Caspase recruitment domain;Caspase recruitment domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1287.33	34	chr2	162310791	.	C	A	1287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.407;DP=726;ExcessHet=0;FS=1.531;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.667;SOR=0.856	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1301,0,1269	18	0	1	0
chr2	167243881	167243881	A	T	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001199144:exon7:c.A1823T:p.K608M,XIRP2:NM_152381:exon9:c.A2489T:p.K830M	.	429	1090	3	0	0	3	0.00137426	.	.	.	2690326	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.026941925353	.	.	8.293e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs779761167	1.779e-05	1.779e-05	5.445e-06	3.025e-05	0.0002	1.238e-05	1.051e-05	0.0002	0.0001	0	0	0	0	0	0.0002	1.799e-06	3.312e-05	0.0002	1.315e-05	1.314e-05	0	2.691e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.003	0.68238	D	.	.	.	0.998	0.90584	D	0.87	0.64797	P	0.000002	0.62929	D	0.097761	0.997631	0.81001	D	1.975	0.53506	M	4.06	0.03063	T	-2.87	0.61284	D	0.415	0.46649	-1.1551	0.00881	T	0.028	0.11882	T	10	0.19531497	0.35378	T	0.026942	0.49802	D	0.096	0.27654	0.329	0.31357	0.201204373187	0.19734	0.6841255612075248	0.68351	0.171559014542	0.19320	0.403291702271	0.25527	T	0.325886	0.69656	T	-0.324885	0.06506	T	-0.500852	0.22260	T	0.855738282203674	0.50667	D	0.739226	0.35772	T	0.19578293	0.41380	0.12441201	0.29988	0.19578293	0.41380	0.12441201	0.29987	-6.373	0.51236	T	.	.	0.157	0.34667	B	.;.;.	.;.;.	3.322330	0.45702	22.2	0.99209632239228274	0.55533	0.95971	0.66952	D	AEFI	0.510154	0.53932	D	0.284926733264679	0.55382	3.702483	0.235116194744699	0.51808	3.360109	0.96907487983519	0.29100	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.82	3.36	0.37579	1.653000	0.36940	5.207000	0.47953	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.934000	0.47231	0.7942:0.1358:0.07:0.0	8.485	0.32228	656	0.62345	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1169.33	34	chr2	167243881	.	A	T	1169.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=1038;ExcessHet=0;FS=1.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.192;SOR=0.855	GT:AD:DP:GQ:PL	0/1:57,44:101:99:1183,0,1422	18	0	1	0
chr2	169157427	169157427	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11963C:p.I3988T	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	0.127879568152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.005	0.72224	D	0.995	0.67487	D	0.756	0.56253	P	0.000003	0.62929	D	0.103381	1	0.81001	D	2.885	0.83555	M	-1.6	0.82165	D	-3.48	0.67941	D	0.626	0.64052	-0.0772	0.80616	T	0.508	0.81488	D	10	0.7716267	0.77129	D	0.12788	0.80975	D	0.747	0.91285	0.564	0.68499	0.503923442013	0.50028	0.7832040228606884	0.78271	1.78967707913	0.91486	0.593845129013	0.52036	T	0.298482	0.67104	T	0.260398	0.79567	D	0.136267	0.79302	D	0.990498244762421	0.80716	D	0.942106	0.78341	D	0.4420152	0.63532	0.4147697	0.65610	0.4420152	0.63532	0.4147697	0.65610	-6.039	0.46604	T	.	.	0.619	0.69669	P	.;.	.;.	3.722853	0.53211	23.3	0.99801365832489319	0.88639	0.99146	0.91905	D	AEFBI	0.877918	0.80286	D	0.529340372304536	0.68833	5.271924	0.581489057250946	0.73612	5.999277	0.999999961098423	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	8.806000	0.91549	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	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	.	.	.	.	.	.	.	.	0.1	1044.25	38	chr2	169157427	.	A	G	1044.25	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.208;DP=749;ExcessHet=0.3672;FS=165.109;InbreedingCoeff=-0.1726;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=0.932;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,9:46:99:0|1:169157427_A_G:215,0,1461:169157427	12	0	3	4
chr2	169157428	169157428	-	GGGTGGTG	exonic	LRP2	.	frameshift insertion	LRP2:NM_004525:exon64:c.11961_11962insCACCACCC:p.I3988Hfs*22	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	682.79	51	chr2	169157428	.	T	TGGGTGGTG	682.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.199;DP=919;ExcessHet=0.119;FS=92.682;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=1.58;SOR=6.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,9:46:99:0|1:169157427_A_G:215,0,1461:169157427	17	0	2	0
chr2	169157430	169157437	AATCCTCC	-	exonic	LRP2	.	frameshift deletion	LRP2:NM_004525:exon64:c.11953_11960del:p.G3985Yfs*14	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	1061.96	27	chr2	169157429	.	AAATCCTCC	A	1061.96	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.366;DP=654;ExcessHet=0.8031;FS=212.143;InbreedingCoeff=-0.3106;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=5.87;ReadPosRankSum=1.24;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,9:47:99:0|1:169157427_A_G:212,0,1503:169157427	7	0	2	10
chr2	169157430	169157430	A	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	384.75	25	chr2	169157430	.	A	*	384.75	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.96;DP=647;ExcessHet=0.8031;FS=212.143;InbreedingCoeff=-0.3376;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.25;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,9:47:99:0|1:169157427_A_G:212,0,1503:169157427	6	0	2	11
chr2	169157431	169157431	A	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	379.9	25	chr2	169157431	.	A	*	379.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.99;DP=638;ExcessHet=0.8031;FS=208.14;InbreedingCoeff=-0.3712;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=1.25;SOR=7.475	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,9:47:99:0|1:169157427_A_G:212,0,1503:169157427	5	0	2	12
chr2	169157433	169157433	C	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	378.84	20	chr2	169157433	.	C	*	378.84	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.256;DP=553;ExcessHet=0.8031;FS=206.681;InbreedingCoeff=-0.3508;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.06;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,9:47:99:0|1:169157427_A_G:212,0,1503:169157427	3	0	2	14
chr2	169157434	169157434	C	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	377.35	20	chr2	169157434	.	C	*	377.35	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.641;DP=553;ExcessHet=0.8031;FS=206.681;InbreedingCoeff=-0.3298;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.19;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,9:47:99:0|1:169157427_A_G:212,0,1503:169157427	4	0	2	13
chr2	169157436	169157436	C	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	300.54	38	chr2	169157436	.	C	*	300.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.843;DP=777;ExcessHet=0.3672;FS=156.251;InbreedingCoeff=-0.0868;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=0.92;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,9:47:99:0|1:169157427_A_G:212,0,1503:169157427	17	0	2	0
chr2	169157437	169157437	C	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	323.07	33	chr2	169157437	.	C	*	323.07	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.75;DP=671;ExcessHet=0.3672;FS=200.397;InbreedingCoeff=-0.1461;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=2.29;ReadPosRankSum=0.683;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,9:47:99:0|1:169157427_A_G:212,0,1503:169157427	14	0	2	3
chr2	169181452	169181452	T	C	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon52:c.A10165G:p.I3389V	Donnai-Barrow syndrome, Autosomal recessive	1	1487	32	2	0	36	0.0119601	.	.	.	499026	not_specified|Inborn_genetic_diseases|LRP2-related_disorder|Donnai-Barrow_syndrome|not_provided|DSD_incomplete_virilization	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.641	.	0.0004	0.00299521	0.0021	0.0003	0.0004	0.0001	0.0003	0.0010	0.0033	0.0101	0.001824	282	154602	rs140272085	0.0012	0.0012	0.0009	0.0016	0.0101	0.0012	0.0011	0.0096	0.0094	5.976e-05	0.0004	0.0104	5.038e-05	0.0004	0.0073	0.0004	0.0022	0.0101	0.0009	0.0009	0.0008	0.0010	0.0106	0.0008	0.0007	0.0083	0.0074	2.404e-05	0	0.0004	0.0078	0	9.406e-05	0.0068	0.0006	0.0019	0.0106	0.103	0.30097	T	0.002	0.79402	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.035	0.55589	M	-3.08	0.92560	D	-0.95	0.25332	N	0.489	0.52297	0.846	0.94983	D	0.858	0.95264	D	10	0.01166299	0.00254	T	.	.	.	0.641	0.86333	.	.	0.582593569427	0.57931	0.7600378516161672	0.75951	0.74352935063	0.63396	0.468133062124	0.34424	T	0.437069	0.78323	T	-0.190964	0.22116	T	-0.039264	0.67752	D	0.0460502854988149	0.04793	T	0.940306	0.77472	D	0.25344846	0.48367	0.27967116	0.53937	0.20892246	0.43143	0.2457165	0.50065	-7.168	0.55251	T	0.4877398244537198	0.56520	0.147	0.32372	B	.;.	.;.	3.744492	0.53636	23.4	0.99867159558426877	0.94547	0.98423	0.82623	D	AEFBI	0.931006	0.91917	D	0.72441804123133	0.81233	7.474422	0.682306101991986	0.81035	7.433764	0.999999997500825	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.7	5.7	0.88690	8.017000	0.88732	7.892000	0.73106	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.724000	0.34901	0.0:0.0:0.0:1.0	15.968	0.79778	904	0.23766	.;.	.	.	.	.	.	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	0.010574	0.000000	0.000000	0.020468	0.000000	0.008621	0.021341	0.015152	0.02632	1418.33	36	chr2	169181452	.	T	C	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.523;DP=721;ExcessHet=0;FS=1.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.157;SOR=0.951	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1432,0,1442	18	0	1	0
chr2	169211992	169211992	T	A	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon37:c.A6256T:p.T2086S	Donnai-Barrow syndrome, Autosomal recessive	1	1489	31	1	0	33	0.0109598	.	.	.	282716	Donnai-Barrow_syndrome|LRP2-related_disorder|DSD_incomplete_virilization|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|.|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.319	.	0.0004	0.00219649	0.0015	9.694e-05	0.0002	0.0001	0	0.0010	0.0033	0.0066	0.0013777	213	154602	rs146149181	0.0010	0.0010	0.0008	0.0012	0.0087	0.0010	0.0009	0.0068	0.0061	2.988e-05	0.0002	0.0098	2.519e-05	0	0.0087	0.0004	0.0019	0.0066	0.0007	0.0007	0.0007	0.0007	0.0071	0.0006	0.0005	0.0052	0.0045	0	0	0.0001	0.0078	0	0	0.0136	0.0005	0.0014	0.0071	0.045	0.40832	D	0.072	0.43344	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.049477	0.840605	0.28636	N	-0.935	0.01286	N	-2.73	0.90679	D	0.64	0.02368	N	0.097	0.07811	-0.3355	0.73974	T	0.459	0.78992	T	10	0.0057308376	0.00128	T	.	.	.	0.319	0.64112	0.34	0.33141	0.262679179196	0.25893	0.401373352216543	0.40052	0.213517207137	0.23864	0.333176523447	0.15413	T	0.062169	0.31846	T	-0.420928	0.01687	T	-0.374521	0.36360	T	0.041402267804435	0.03945	T	0.754725	0.37732	T	0.12659773	0.29647	0.14224476	0.33846	0.12102871	0.28469	0.18182682	0.41070	-3.808	0.20924	T	0.14272205938023666	0.16163	0.115	0.23041	B	.;.	.;.	2.518492	0.32539	19.07	0.9836469207651185	0.40678	0.91023	0.52710	D	AEFBI	0.571408	0.57540	D	-0.393648514411365	0.25693	1.396717	-0.152797696815702	0.33301	1.903465	0.999682378136073	0.41756	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.64	4.75	0.59954	3.807000	0.55295	5.973000	0.52033	-0.201000	0.08892	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.925:0.0:0.075	13.767	0.62488	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	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	0.009577	0.000000	0.000000	0.017544	0.000000	0.025862	0.018405	0.011364	0.05263	2601.83	34	chr2	169211992	.	T	A	2601.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.93;DP=772;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.633;SOR=0.666	GT:AD:DP:GQ:PL	0/1:38,41:79:99:1113,0,937	17	0	2	0
chr2	178563646	178563646	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.G55291A:p.D18431N,TTN:NM_133432:exon155:c.G55666A:p.D18556N,TTN:NM_133437:exon155:c.G55867A:p.D18623N,TTN:NM_133378:exon275:c.G74782A:p.D24928N,TTN:NM_001256850:exon276:c.G77563A:p.D25855N,TTN:NM_001267550:exon326:c.G82486A:p.D27496N	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	499299	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|not_provided|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.143	0.0120698359093	.	0.000998403	0.0006	0	8.652e-05	0.0007	0	1.499e-05	0.0011	0.0038	0.0005045	78	154602	rs554231442	0.0003	0.0003	0.0002	0.0004	0.0039	0.0003	0.0003	0.0036	0.0035	0	0	0	5.04e-05	0	0.0009	5.847e-05	0.0002	0.0039	0.0002	0.0002	0.0001	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	2.407e-05	0	6.55e-05	0	0.0008	0	0	5.881e-05	0	0.0058	0.068	0.43393	T	.	.	.	0.06	0.23119	B	0.013	0.16460	B	.	.	.	.	0.99943	0.47641	D	1.415	0.35607	L	0.32	0.58468	T	-3.11	0.64246	D	0.173	0.35088	-0.8720	0.50379	T	0.164	0.50061	T	9	0.008889884	0.00201	T	0.01207	0.30309	T	0.143	0.38195	0.685	0.82271	0.238705975628	0.23479	.	.	0.0908490664805	0.10259	0.395129799843	0.24390	T	.	.	.	-0.546585	0.00306	T	-0.558746	0.16495	T	0.0374089329057595	0.03229	T	0.912309	0.68816	D	.	.	.	.	.	.	.	.	-4.742	0.33908	T	.	.	0.116	0.23219	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.601500	0.33767	19.44	0.89688073390152212	0.19013	0.79844	0.39646	D	AEFBI	0.348611	0.44268	N	0.107105667915525	0.46795	2.914369	0.277928060398702	0.54252	3.590865	0.969714564207953	0.29150	0.487112	0.14033	0	0.546412	0.12157	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	2.551000	0.45481	.	.	0.599000	0.40250	1.000000	0.71638	0.923000	0.28366	0.976000	0.56436	0.0:0.8895:0.0:0.1105	11.143	0.47635	440	0.80101	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2661.33	36	chr2	178563646	.	C	T	2661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.73;DP=1884;ExcessHet=0;FS=1.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=0.745;SOR=0.785	GT:AD:DP:GQ:PL	0/1:86,99:185:99:2675,0,1983	18	0	1	0
chr2	179115204	179115204	T	G	exonic	SESTD1	.	nonsynonymous SNV	SESTD1:NM_178123:exon16:c.A1700C:p.Q567P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.0659102629389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.26629	T	0.011	0.64786	D	0.932	0.51990	P	0.888	0.63021	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.27	0.36146	T	-4.18	0.75537	D	0.761	0.75927	-0.9764	0.35816	T	0.131	0.44228	T	9	0.69685227	0.72198	D	0.06591	0.69720	D	0.337	0.65913	0.437	0.48993	0.225033846419	0.22103	0.7481086516992231	0.74756	1.48735837486	0.86818	0.81251001358	0.83877	D	0.373431	0.73743	T	0.100603	0.64359	D	-0.0932666	0.63914	T	0.984897792339325	0.76055	D	0.945705	0.79334	D	0.7609886	0.81511	0.69621557	0.82112	0.7609886	0.81513	0.69621557	0.82113	-14.944	0.95720	D	.	.	0.978	0.90812	P	.	.	4.281433	0.65228	24.8	0.99317469120849367	0.59241	0.99708	0.98849	D	AEFBI	0.963889	0.98590	D	0.480963320345414	0.65980	4.89115	0.518023461500823	0.69204	5.327058	0.999932432932992	0.46732	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	7.650000	0.82668	7.909000	0.73932	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.757000	0.36037	0.0:0.0:0.0:1.0	15.898	0.79134	289	0.88525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	808.33	42	chr2	179115204	.	T	G	808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.267;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=1.55;SOR=0.678	GT:AD:DP:GQ:PL	0/1:47,35:82:99:822,0,1165	18	0	1	0
chr2	181922056	181922056	T	A	exonic	ITPRID2	.	nonsynonymous SNV	ITPRID2:NM_001287504:exon14:c.T2794A:p.S932T,ITPRID2:NM_001287503:exon15:c.T3253A:p.S1085T,ITPRID2:NM_001130445:exon16:c.T3319A:p.S1107T,ITPRID2:NM_006751:exon16:c.T3319A:p.S1107T	.	433	1088	1	0	0	1	0.000459348	.	.	.	3264748	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.00982272340155	0.0005	0.000199681	0.0003	9.623e-05	8.64e-05	0	0.0003	0.0005	0.0011	0	0.0002652	41	154602	rs138326546	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0003	0.0003	2.987e-05	2.236e-05	0	0	0.0006	0.0007	0.0003	0.0003	3.478e-05	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0003	0.0006	0.0006	7.213e-05	0	6.538e-05	0	0	0.0008	0	0.0008	0.0005	0.0002	0.003	0.68238	D	0.168	0.92824	T	0.993	0.65571	D	0.879	0.62418	P	0.000003	0.62929	D	0.000000	0.962777	0.38310	D	.	.	.	2.37	0.19588	T	0.04	0.57435	N	0.504	0.57946	-0.9327	0.43740	T	0.117	0.41363	T	10	0.07118794	0.10460	T	0.009823	0.25608	T	0.135	0.36572	.	.	0.510113526977	0.50651	0.26370517449098746	0.26283	0.186698491415	0.20978	0.59881067276	0.52737	T	0.111936	0.42781	T	-0.400446	0.02300	T	-0.354465	0.38692	T	0.0876544298459212	0.10937	T	0.905609	0.66735	D	0.16259912	0.36347	0.1886192	0.42162	0.16259912	0.36347	0.1886192	0.42161	-5.435	0.48548	T	.	.	0.151	0.43640	B	.;.;.;.;.	.;.;.;.;.	4.305231	0.65771	24.9	0.99429015490677952	0.64179	0.84706	0.43793	D	AEFBCI	0.518853	0.54438	D	0.626806268040794	0.74877	6.207714	0.6208304070407	0.76453	6.494086	0.999988612710137	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	2.627000	0.46135	7.940000	0.75441	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.1378:0.8622	12.646	0.56097	679	0.60090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1639.33	33	chr2	181922056	.	T	A	1639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.634;DP=761;ExcessHet=0;FS=1.341;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-2.065;SOR=0.844	GT:AD:DP:GQ:PL	0/1:74,68:142:99:1653,0,1964	18	0	1	0
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3235	1518.25	38	chr2	186504215	.	G	C	1518.25	.	AC=11;AF=0.324;AN=34;BaseQRankSum=1.56;DP=1053;ExcessHet=18.7922;FS=99.238;InbreedingCoeff=-0.634;MLEAC=12;MLEAF=0.353;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.93;SOR=10.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,21:43:99:.:.:232,0,203:.	6	0	11	2
chr2	189057318	189057318	A	C	splicing	COL5A2	NM_000393:exon34:c.2337+2T>G	.	.	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.502e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.805e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.611489	0.92537	32	0.99483564550460934	0.67014	0.99218	0.92973	D	AEFBI	.	.	.	1.15119548577923	0.98974	20.10665	1.01036033718981	0.98817	19.48842	0.999999999925718	0.74766	0.163922	0.03765	0	0.084543	0.02171	0	0.078618	0.02440	0	0.24341	0.04801	0	0.979619	0.84361	5.92	5.92	0.95557	9.325000	0.96006	11.291000	0.92027	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	1.0:0.0:0.0:0.0	16.359	0.83084	836	0.38045	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	40.5	32	chr2	189057318	.	A	C	40.5	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.631;DP=837;ExcessHet=0.119;FS=125.926;InbreedingCoeff=-0.1093;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=2.27;SOR=7.614	GT:AD:DP:GQ:PL	0/1:28,11:39:25:25,0,640	14	0	2	3
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	5666.6	35	chr2	197523648	.	T	C	5666.6	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.356;DP=1595;ExcessHet=31.086;FS=383.252;InbreedingCoeff=-0.8661;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.863;SOR=12.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,19:65:99:.:.:132,0,793:.	1	0	17	1
chr2	210441414	210441414	T	G	exonic	LANCL1	.	nonsynonymous SNV	LANCL1:NM_001136574:exon5:c.A437C:p.H146P,LANCL1:NM_001136575:exon5:c.A437C:p.H146P,LANCL1:NM_006055:exon5:c.A437C:p.H146P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	.	0.00239617	0.0008	0	0	0.0101	0	0	0	0.0004	0.0007244	112	154602	rs202027938	0.0002	0.0002	0.0002	0.0002	0.0057	0.0002	0.0002	0.0051	0.0048	0	2.239e-05	0	0.0057	0	0	2.702e-06	0.0006	0.0005	0.0003	0.0003	0.0002	0.0004	0.0089	0.0003	0.0002	0.0068	0.0061	0	0	0	0	0.0089	0	0	0	0.0005	0.0006	0.069	0.35537	T	0.144	0.33109	T	0.035	0.20614	B	0.21	0.37304	B	0.002433	0.36574	N	0.301640	0.924063	0.36764	D	-0.695	0.01866	N	1.04	0.40218	T	-0.93	0.28703	N	0.449	0.48689	-1.0311	0.20099	T	0.065	0.27017	T	10	0.005235046	0.00114	T	.	.	.	0.128	0.35103	.	.	0.336892272479	0.33291	0.5837122180996948	0.58300	0.0125326048477	0.01191	0.317235708237	0.13001	T	0.022734	0.17478	T	-0.440333	0.01288	T	-0.397323	0.33696	T	0.0425481195408877	0.04156	T	0.60384	0.23382	T	0.37439483	0.58907	0.16256501	0.37756	0.37439483	0.58908	0.16256501	0.37755	-4.94	0.36182	T	.	.	0.193	0.44029	B	.;.;.;.;.;.	.;.;.;.;.;.	2.407968	0.30945	18.59	0.919595930104667	0.21288	0.67857	0.33586	D	AEFBI	0.466914	0.51436	N	-0.408209505238329	0.25180	1.365034	-0.286538394746271	0.28541	1.592178	0.00212209461673548	0.09174	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	3.43	0.38372	0.476000	0.21890	0.684000	0.20706	0.609000	0.47794	0.275000	0.25094	0.455000	0.24973	0.993000	0.69303	0.0:0.3892:0.0:0.6108	3.296	0.06555	409	0.82198	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	671.33	34	chr2	210441414	.	T	G	671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.193;DP=715;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-1.699;SOR=0.515	GT:AD:DP:GQ:PL	0/1:41,29:70:99:685,0,1049	18	0	1	0
chr2	219563457	219563457	G	A	exonic	OBSL1	.	nonsynonymous SNV	OBSL1:NM_001173408:exon7:c.C2578T:p.P860S,OBSL1:NM_001173431:exon7:c.C2578T:p.P860S,OBSL1:NM_015311:exon7:c.C2578T:p.P860S	3-M syndrome 2	.	.	.	.	.	.	.	.	.	.	719665	3M_syndrome_2|not_provided	MONDO:MONDO:0013039,MedGen:C2752041,OMIM:612921,Orphanet:2616|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.040	.	.	0.00479233	0.0016	0	8.684e-05	0.0201	0	0.0002	0	0.0001	0.0014295	221	154602	rs117788171	0.0012	0.0012	0.0012	0.0011	0.0382	0.0011	0.0011	0.0366	0.0360	0	0	0.0025	0.0382	0	0.0007	3.868e-05	0.0007	0.0002	0.0009	0.0009	0.0007	0.0010	0.0213	0.0008	0.0007	0.0181	0.0168	0	0	0	0.0043	0.0213	9.416e-05	0	5.883e-05	0.0005	0.0006	0.399	0.10517	T	0.906	0.36901	T	0.002	0.37393	B	0.019	0.37572	B	.	.	.	.	1	0.08975	N	0.315	0.10303	N	-0.13	0.64818	T	0.16	0.18877	N	0.272	0.34336	-1.0627	0.11093	T	0.063	0.26065	T	9	0.0036526322	0.00067	T	.	.	.	0.040	0.10527	.	.	0.542721108892	0.53925	0.38052030163082373	0.37967	0.171380258948	0.19308	0.276728093624	0.07041	T	0.011121	0.09959	T	-0.50622	0.00527	T	-0.462682	0.26307	T	0.0193305514691035	0.00638	T	0.728627	0.36682	T	0.07918061	0.18076	0.088930644	0.20766	0.08387399	0.19387	0.11397373	0.27509	-4.238	0.32159	T	.	.	0.090	0.44527	B	.;.;.;.;.	.;.;.;.;.	1.354449	0.17625	13.27	0.96368038056859628	0.29573	0.13667	0.17985	N	AEFBCI	0.285925	0.39843	N	-0.66032190571382	0.17160	0.8806621	-0.593794338006899	0.19654	1.055464	0.999798551201646	0.43153	0.722319	0.85440	0	0.563428	0.19063	0	0.698795	0.65105	0	0.699875	0.68795	0	.	.	4.69	1.61	0.22752	-0.148000	0.10203	0.721000	0.21012	0.672000	0.70159	0.000000	0.06391	0.015000	0.20450	0.508000	0.29198	0.0:0.0:0.4666:0.5334	13.246	0.59453	114	0.95383	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	4622.33	73	chr2	219563457	.	G	A	4622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.011;DP=1036;ExcessHet=0;FS=0.975;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.27;ReadPosRankSum=-0.889;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,120:253:99:0|1:219563457_G_A:4636,0,5159:219563457	18	0	1	0
chr2	231206248	231206248	A	G	exonic	ARMC9	.	nonsynonymous SNV	ARMC9:NM_001271466:exon2:c.A10G:p.I4V,ARMC9:NM_001291656:exon2:c.A10G:p.I4V,ARMC9:NM_001352754:exon2:c.A10G:p.I4V,ARMC9:NM_001352755:exon2:c.A10G:p.I4V,ARMC9:NM_001352756:exon2:c.A10G:p.I4V,ARMC9:NM_001352757:exon2:c.A10G:p.I4V,ARMC9:NM_001352758:exon2:c.A10G:p.I4V,ARMC9:NM_001352759:exon2:c.A10G:p.I4V,ARMC9:NM_025139:exon2:c.A10G:p.I4V	.	432	1089	1	0	0	1	0.000458926	.	.	.	743537	ARMC9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.014	.	0.0047	0.00539137	0.0014	0.0164	0.0005	0	0	0	0	0	0.0013325	206	154602	rs61753914	0.0004	0.0004	0.0005	0.0004	0.0162	0.0004	0.0004	0.0151	0.0146	0.0162	0.0004	0	0	0	0.0010	2.699e-06	0.0008	1.159e-05	0.0041	0.0041	0.0044	0.0039	0.0144	0.0039	0.0037	0.0134	0.0131	0.0144	0	0.0016	0	0.0002	0	0.0034	0	0.0014	0	0.483	0.08164	T	0.877	0.04066	T	0.001	0.07471	B	0.003	0.08700	B	0.002209	0.37012	N	0.257192	0.817034	0.28930	N	0.905	0.23240	L	2.36	0.40218	T	-0.11	0.09460	N	0.123	0.22486	-1.0143	0.25561	T	0.020	0.08546	T	10	0.0020937324	0.00030	T	.	.	.	0.014	0.01968	.	.	0.185906805712	0.18197	0.13180756973383317	0.13105	0.179767263721	0.20220	0.379405379295	0.22172	T	0.036773	0.24231	T	-0.616419	0.00116	T	-0.645246	0.09291	T	0.00636970114367593	0.00071	T	0.822518	0.48242	T	0.01653061	0.00204	0.047702957	0.06930	0.017665055	0.00292	0.05070128	0.08010	-3.566	0.17367	T	.	.	0.064	0.02518	B	.;.;.;.	.;.;.;.	0.300956	0.06766	3.283	0.84481597069505987	0.15317	0.11847	0.16900	N	AEFBI	0.057794	0.10795	N	-1.02849565665546	0.08016	0.3743895	-0.942931263289747	0.11088	0.5627166	0.991612459779635	0.32549	0.706548	0.73137	0	0.633656	0.55848	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.2	0.25	0.14795	0.353000	0.19868	0.550000	0.19412	0.756000	0.94297	0.052000	0.21487	0.003000	0.18671	0.941000	0.48210	0.684:0.0:0.316:0.0	8.630	0.33072	946	0.12043	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001512	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	1923.33	46	chr2	231206248	.	A	G	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.363;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.912;SOR=0.738	GT:AD:DP:GQ:PL	0/1:80,84:164:99:1937,0,1957	18	0	1	0
chr2	231460686	231460688	TCC	-	exonic	NCL	.	nonframeshift deletion	NCL:NM_005381:exon4:c.792_794del:p.E271del	.	403	1114	5	0	0	5	0.00223914	.	.	.	719700	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0166	.	0.0042	0.0209	0.0023	0.0043	0.0041	0.0019	0.0011	0.0043	0.0008452	22	26028	rs199829854	0.0023	0.0023	0.0023	0.0023	0.0212	0.0022	0.0022	0.0199	0.0194	0.0212	0.0025	0.0013	0.0025	0.0053	0.0029	0.0014	0.0030	0.0040	0.0072	0.0072	0.0071	0.0074	0.0201	0.0069	0.0067	0.0189	0.0185	0.0201	0	0.0036	0.0023	0.0022	0.0035	0	0.0018	0.0076	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005699	0.015152	0.001359	0.013986	0.000000	0.000000	0.009146	0.000000	0.02632	3349.29	33	chr2	231460685	.	TTCC	T	3349.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.897;DP=818;ExcessHet=0;FS=1.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.8;ReadPosRankSum=-1.196;SOR=0.553	GT:AD:DP:GQ:PL	0/1:72,89:161:99:3363,0,2692	18	0	1	0
chr2	232545678	232545678	C	T	exonic	CHRNG	.	nonsynonymous SNV	CHRNG:NM_005199:exon12:c.C1516T:p.P506S	Escobar syndrome, Autosomal recessive;Multiple pterygium syndrome, lethal type, Autosomal recessive	0	1490	32	0	0	32	0.0106242	.	.	.	237286	Autosomal_recessive_multiple_pterygium_syndrome|Lethal_multiple_pterygium_syndrome|not_provided|CHRNG-related_disorder	MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.405	.	0.0065	0.00279553	0.0068	0.0015	0.0019	0	0.0045	0.0084	0.0055	0.0115	0.0068498	1059	154602	rs71421651	0.0084	0.0084	0.0083	0.0085	0.0109	0.0083	0.0082	0.0103	0.0101	0.0011	0.0023	0.0059	0	0.0055	0.0059	0.0092	0.0075	0.0109	0.0054	0.0054	0.0061	0.0046	0.0093	0.0051	0.0049	0.0080	0.0078	0.0015	0	0.0047	0.0032	0	0.0031	0	0.0086	0.0043	0.0093	0.04	0.42199	D	0.051	0.47828	T	0.361	0.33905	B	0.222	0.37884	B	0.000043	0.53742	D	0.074868	0.99982	0.49910	D	2.265	0.64440	M	-1.42	0.85003	T	-4.78	0.82638	D	0.128	0.24385	0.033	0.82918	D	0.460	0.79038	T	10	0.008921087	0.00202	T	.	.	.	0.405	0.71791	.	.	0.847731155471	0.84626	.	.	0.330394397792	0.35121	0.555997252464	0.46703	T	0.506774	0.82481	D	-0.361308	0.04057	T	-0.282376	0.46559	T	0.0289974919559285	0.01836	T	0.850115	0.54640	D	0.2856958	0.51589	0.27120733	0.53019	0.28236347	0.51274	0.27120733	0.53018	-8.456	0.64137	D	.	.	0.111	0.21578	B	.;.	.;.	3.597168	0.50793	23.0	0.99722713874155877	0.82195	0.91722	0.54125	D	AEFDBCI	0.328063	0.42884	N	0.169387878500467	0.49733	3.170391	0.173429386781178	0.48397	3.056082	0.999999990009894	0.74766	0.475973	0.10046	0	0.514364	0.08380	0	0.536957	0.11973	0	0.528226	0.09195	0	.	.	4.53	4.53	0.55009	2.995000	0.49129	1.740000	0.28393	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.893000	0.43066	0.0:0.9176:0.0:0.0824	12.755	0.56704	917	0.20147	.;.	.	.	.	.	.	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	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.011364	0.02632	1110.33	33	chr2	232545678	.	C	T	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.44;DP=768;ExcessHet=0;FS=4.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.704;SOR=1.232	GT:AD:DP:GQ:PL	0/1:45,39:84:99:1124,0,1119	18	0	1	0
chr2	240529254	240529254	G	A	exonic	ANKMY1	.	nonsynonymous SNV	ANKMY1:NM_001354024:exon4:c.C469T:p.R157W,ANKMY1:NM_016552:exon4:c.C469T:p.R157W,ANKMY1:NM_001282771:exon5:c.C736T:p.R246W,ANKMY1:NM_001354023:exon6:c.C736T:p.R246W	.	426	1078	17	1	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0183285849306	0.0032	0.00159744	0.0019	0.0035	0.0005	0	0.0002	0.0023	0.0022	0.0022	0.0018628	288	154602	rs141683622	0.0017	0.0017	0.0016	0.0017	0.0231	0.0016	0.0016	0.0199	0.0187	0.0027	0.0015	0.0105	5.038e-05	0.0004	0.0231	0.0013	0.0031	0.0022	0.0023	0.0023	0.0023	0.0024	0.0031	0.0021	0.0021	0.0026	0.0024	0.0030	0	0.0020	0.0127	0	0.0004	0.0204	0.0018	0.0047	0.0031	0.155	0.30943	T	0.014	0.76473	D	0.997	0.70673	D	0.507	0.47859	P	0.877026	0.07211	N	1.063240	1	0.81001	D	2.33	0.66821	M	0.97	0.42502	T	-3.54	0.76822	D	0.545	0.57177	-0.9548	0.40131	T	0.157	0.48942	T	10	0.0055651963	0.00123	T	0.018329	0.40357	T	0.235	0.53788	.	.	0.744673418284	0.74237	0.6798103662453437	0.67920	0.406304590416	0.41509	0.220648571849	0.01348	T	0.18545	0.53842	T	-0.411645	0.01938	T	-0.367126	0.37225	T	0.0255231670118667	0.01342	T	0.892111	0.62800	D	0.22641642	0.45322	0.12773886	0.30744	0.22641642	0.45322	0.12773886	0.30743	-9.809	0.72760	D	.	.	0.130	0.29995	B	.;.;.;.	.;.;.;.	2.621760	0.34075	19.52	0.99834612356398045	0.91628	0.76334	0.37430	D	AEFBI	0.391756	0.47007	N	0.0172032028497385	0.42637	2.572806	-0.0876661890152635	0.35898	2.082474	0.011544007067625	0.12200	0.615465	0.37627	0	0.653731	0.59785	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.06	4.15	0.47978	1.303000	0.33075	1.460000	0.26674	0.676000	0.76740	0.790000	0.29595	0.132000	0.23010	0.205000	0.22041	0.0:0.0:0.8336:0.1664	12.705	0.56423	994	0.00715	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022659	0.015152	0.024457	0.055556	0.000000	0.034483	0.003049	0.000000	0.05263	3478.83	33	chr2	240529254	.	G	A	3478.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.454;DP=911;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.716;SOR=0.699	GT:AD:DP:GQ:PL	0/1:94,74:168:99:1711,0,2354	17	0	2	0
chr2	241373241	241373241	A	G	exonic	FARP2	.	nonsynonymous SNV	FARP2:NM_001282983:exon2:c.A134G:p.H45R,FARP2:NM_001282984:exon2:c.A134G:p.H45R,FARP2:NM_014808:exon2:c.A134G:p.H45R	.	427	1047	45	3	0	51	0.0237762	.	.	.	719777	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.174	.	0.0007	0.00359425	0.0034	9.697e-05	0.0009	0.0001	0.0002	0.0013	0.0101	0.0202	0.0028913	447	154602	rs150312458	0.0015	0.0016	0.0010	0.0021	0.0190	0.0015	0.0015	0.0182	0.0179	6.429e-05	0.0006	0.0040	2.674e-05	3.818e-05	0.0100	0.0003	0.0020	0.0190	0.0013	0.0013	0.0010	0.0016	0.0197	0.0011	0.0011	0.0165	0.0153	0.0001	0	0.0007	0.0046	0	0.0002	0.0068	0.0007	0.0047	0.0197	0.316	0.13744	T	0.476	0.13832	T	0.001	0.07471	B	0.001	0.06944	B	0.854686	0.08938	N	0.936529	1	0.08975	N	0.935	0.23595	L	-0.8	0.87591	T	-1.46	0.49684	N	0.218	0.24385	-0.7772	0.56459	T	0.334	0.70101	T	10	0.004382789	0.00089	T	.	.	.	0.174	0.44019	.	.	0.508223314113	0.50461	0.17052013720467224	0.16972	0.0643189233085	0.07168	0.276633054018	0.07027	T	0.053007	0.29322	T	-0.345805	0.04996	T	-0.254565	0.49365	T	0.00849698532556017	0.00103	T	0.549445	0.19458	T	0.025778024	0.01554	0.043584656	0.05456	0.025778024	0.01554	0.043584656	0.05456	-2.43	0.05320	T	.	.	0.073	0.05188	B	.;.;.;.;.	.;.;.;.;.	-0.258881	0.02802	0.385	0.72898659313836633	0.10135	0.07713	0.13715	N	AEFGBHCI	0.092076	0.18644	N	-1.23713783796239	0.04472	0.2018995	-1.27425825751002	0.04781	0.2263567	0.999999937993156	0.74766	0.732398	0.92422	0	0.658105	0.61773	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.3	-7.7	0.01120	-0.086000	0.11198	-0.494000	0.08842	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.766000	0.36367	0.3729:0.4995:0.1276:0.0	10.763	0.45474	988	0.01987	FERM domain|Band 4.1 domain;.;.;FERM domain;FERM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009577	0.000000	0.002717	0.020468	0.000000	0.008621	0.012270	0.022727	0.02632	1518.33	41	chr2	241373241	.	A	G	1518.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.68;DP=874;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-1.146;SOR=0.796	GT:AD:DP:GQ:PL	0/1:83,63:146:99:1532,0,2134	18	0	1	0
chr3	9734490	9734490	A	G	exonic	BRPF1	.	nonsynonymous SNV	BRPF1:NM_001003694:exon2:c.A350G:p.D117G,BRPF1:NM_001319049:exon2:c.A350G:p.D117G,BRPF1:NM_001319050:exon2:c.A350G:p.D117G,BRPF1:NM_004634:exon2:c.A350G:p.D117G	Intellectual developmental disorder with dysmorphic facies and ptosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0180332992492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.51248	T	0.152	0.39040	T	0.043	0.29470	B	0.088	0.38015	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.275	0.64647	M	0.95	0.43279	T	-3.09	0.63438	D	0.671	0.68950	-0.9999	0.29945	T	0.126	0.43174	T	10	0.4820043	0.60487	T	0.018033	0.39953	T	0.206	0.49396	0.697	0.83406	0.699080592734	0.69648	0.621515318912508	0.62084	2.20945217804	0.95737	0.759830474854	0.75903	T	0.176781	0.52685	T	0.141591	0.68476	D	-0.0343904	0.68077	D	0.916390156289522	0.57379	D	0.952505	0.81867	D	0.46892256	0.65224	0.47100475	0.69327	0.46892256	0.65224	0.47100475	0.69327	-10.975	0.79882	D	0.2865502215123609	0.38259	0.278	0.53495	B	.;.;.;.	.;.;.;.	4.420235	0.68456	25.2	0.99515822723939029	0.68919	0.95602	0.65379	D	AEFBCI	0.843148	0.76020	D	0.138140142386745	0.48250	3.03976	0.310063705196889	0.56130	3.776018	0.999999999997752	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	6.976000	0.75917	11.279000	0.91668	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	15.673	0.77047	743	0.52768	.;.;.;Enhancer of polycomb-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2212.33	35	chr3	9734490	.	A	G	2212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.008;DP=850;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-2.104;SOR=0.792	GT:AD:DP:GQ:PL	0/1:122,86:208:99:2226,0,3538	18	0	1	0
chr3	9839171	9839171	A	T	exonic	RPUSD3	.	nonsynonymous SNV	RPUSD3:NM_001142547:exon7:c.T680A:p.V227E,RPUSD3:NM_001351738:exon8:c.T753A:p.S251R,RPUSD3:NM_173659:exon8:c.T725A:p.V242E	.	0	225	1	0	0	1	0.00221729	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	1.679e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs763198758	1.307e-05	1.3e-05	1.092e-05	1.525e-05	0.0001	8.36e-06	6.74e-06	6.262e-05	4.769e-05	0	0	0	0	0	0	5.428e-06	5.003e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.35918	T	0.043	0.49942	D	0.928	0.54400	P	0.494	0.54186	P	0.220816	0.16143	N	0.631198	0.999998	0.58761	D	2.015	0.55033	M	1.58	0.29085	T	-1.03	0.27052	N	0.509	0.54147	-0.9550	0.40096	T	0.080	0.31795	T	10	0.4426375	0.58198	T	0.009816	0.25608	T	0.205	0.49236	0.677	0.81496	0.218845423259	0.21516	0.7181777489663255	0.71760	0.670111394048	0.59393	0.40348470211	0.25554	T	0.008244	0.07584	T	-0.275184	0.11185	T	-0.39639	0.33805	T	0.236737087368965	0.22269	T	0.69603	0.30863	T	0.0974127	0.22960	0.11078784	0.26717	0.0974127	0.22960	0.11078784	0.26716	-6.596	0.52455	T	.	.	0.251	0.48551	B	.;.	.;.	2.033975	0.25852	16.91	0.90996164865448936	0.20246	0.23530	0.22106	N	AEFGBCI	0.236482	0.35892	N	-0.810637087098628	0.13038	0.63954	-1.05684210802851	0.08564	0.4217122	0.99706012158619	0.35242	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	4.72	-5.66	0.02255	-0.034000	0.12176	0.141000	0.15172	-0.065000	0.16512	0.068000	0.22015	0.000000	0.08366	0.090000	0.17789	0.3053:0.1226:0.5721:0.0	9.901	0.40514	477	0.77662	.;Pseudouridine synthase, RsuA/RluB/C/D/E/F|Pseudouridine synthase, RsuA/RluB/C/D/E/F	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	730.33	39	chr3	9839171	.	A	T	730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=687;ExcessHet=0;FS=1.967;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=0.15;SOR=0.945	GT:AD:DP:GQ:PL	0/1:47,29:76:99:744,0,1226	18	0	1	0
chr3	9943452	9943452	C	T	exonic	CRELD1	.	nonsynonymous SNV	CRELD1:NM_001374320:exon8:c.C901T:p.R301C,CRELD1:NM_001374318:exon9:c.C985T:p.R329C,CRELD1:NM_001374319:exon9:c.C901T:p.R301C,CRELD1:NM_015513:exon9:c.C985T:p.R329C,CRELD1:NM_001031717:exon10:c.C985T:p.R329C,CRELD1:NM_001077415:exon10:c.C985T:p.R329C,CRELD1:NM_001374316:exon10:c.C985T:p.R329C,CRELD1:NM_001374317:exon10:c.C985T:p.R329C	Atrioventricular septal defect, partial, with heterotaxy syndrome, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	18466	not_provided|Atrioventricular_septal_defect,_susceptibility_to,_2	MedGen:C3661900|MONDO:MONDO:0011650,MedGen:C1853508,OMIM:606217	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.715	0.303919901057	0.0013	0.000798722	0.0006	0.0005	0.0003	0.0001	0.0005	0.0010	0	6.056e-05	0.0006662	103	154602	rs28942091	0.0008	0.0008	0.0008	0.0008	0.0010	0.0007	0.0007	0.0009	0.0009	0.0003	0.0005	0	2.519e-05	0.0003	0.0010	0.0009	0.0007	0.0001	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0011	0.0010	0.0003	0	0.0011	0	0	9.429e-05	0	0.0013	0.0005	0.0002	0.178	0.23271	T	0.09	0.46862	T	1.0	0.90584	D	0.973	0.86255	D	0.008732	0.30696	N	0.374939	0.999988	0.54805	D	3.155	0.88459	M	-3.06	0.92457	D	-0.99	0.27876	N	0.773	0.77039	0.981	0.96874	D	0.888	0.96285	D	9	0.30895013	0.48386	T	0.30392	0.90972	D	0.715	0.89877	.	.	0.984984454091	0.98482	0.8250822619629183	0.82466	0.227251636705	0.25277	0.264449745417	0.05432	T	0.382466	0.74454	T	0.0981197	0.64089	D	0.317725	0.88996	D	0.0682023692009495	0.08397	T	0.816518	0.47523	T	0.18486987	0.39822	0.13095032	0.31454	0.21638325	0.44096	0.12236571	0.29516	-10.066	0.74306	D	0.17994534461799375	0.23134	0.421	0.60736	A	.;.;.;.	.;.;.;.	4.281242	0.65215	24.8	0.9993225417624213	0.99439	0.93199	0.57584	D	AEFDBCI	0.491304	0.52842	N	0.566172902454911	0.71074	5.595708	0.451085041580149	0.64785	4.742043	0.999999999999941	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	3.611000	0.53881	3.331000	0.37627	-0.190000	0.09434	1.000000	0.71638	0.998000	0.33993	0.614000	0.31742	0.0:1.0:0.0:0.0	14.946	0.70685	628	0.65206	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.010101	0.002725	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2141.33	34	chr3	9943452	.	C	T	2141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=808;ExcessHet=0;FS=6.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.526;SOR=1.165	GT:AD:DP:GQ:PL	0/1:70,78:148:99:2155,0,1669	18	0	1	0
chr3	10104680	10104680	G	T	exonic	FANCD2OS	.	nonsynonymous SNV	FANCD2OS:NM_001164839:exon2:c.C95A:p.P32Q,FANCD2OS:NM_173472:exon2:c.C95A:p.P32Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.0117089053865	.	.	1.651e-05	0	0	0	0	1.501e-05	0	6.113e-05	1.29e-05	2	154602	rs777528115	6.157e-06	6.156e-06	5.445e-06	6.876e-06	0.0003	2.9e-06	2.1e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	4.967e-05	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.0	0.92824	D	0.999	0.77913	D	0.988	0.77976	D	0.000001	0.62929	D	0.000000	0.998793	0.45457	D	0.975	0.24501	L	.	.	.	-7.53	0.95131	D	0.612	0.62866	-0.5075	0.68378	T	0.270	0.64141	T	9	0.34226167	0.51261	T	0.011709	0.29605	T	0.305	0.62620	0.183	0.09131	0.307332253619	0.30352	0.3729002511919312	0.37204	0.597372302995	0.54935	0.523887217045	0.42174	T	0.109611	0.42363	T	0.148788	0.69155	D	0.0728013	0.75097	D	0.988830268383026	0.79119	D	0.731927	0.34732	T	0.58768547	0.72025	0.5109298	0.71738	0.58768547	0.72026	0.5109298	0.71739	-4.223	0.27083	T	.	.	0.324	0.63033	B	.;.;.	.;.;.	4.044082	0.59893	24.2	0.98907073219071906	0.48290	0.89249	0.49600	D	AEFDGBI	0.470902	0.51667	N	0.320091281866438	0.57179	3.884471	0.340987310280779	0.57968	3.964652	0.999062479807949	0.38343	0.679555	0.55442	0	0.600882	0.49574	2	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.62	4.75	0.59954	4.165000	0.57984	8.450000	0.77217	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.1474:0.8526:0.0	14.525	0.67467	332	0.86382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1335.33	39	chr3	10104680	.	G	T	1335.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.058;DP=738;ExcessHet=0;FS=3.698;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.552;SOR=1.126	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1349,0,1577	18	0	1	0
chr3	11018647	11018647	C	G	exonic	SLC6A1	.	stopgain	SLC6A1:NM_001348250:exon5:c.C420G:p.Y140X,SLC6A1:NM_001348251:exon5:c.C60G:p.Y20X,SLC6A1:NM_003042:exon5:c.C420G:p.Y140X	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.9e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000006	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.869	0.86618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;High;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	8.764190	0.97991	38	0.99715845803623193	0.81703	0.94598	0.61689	D	AEFDBI	0.162699	0.28890	N	0.647254133725166	0.76191	6.441153	0.486709776876107	0.67108	5.04014	0.9095199609595	0.26314	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	3.71	0.41733	3.332000	0.51798	2.256000	0.31725	-0.260000	0.06918	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.8347:0.0:0.1653	9.207	0.36459	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	93.95	34	chr3	11018647	.	C	G	93.95	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.803;DP=1057;ExcessHet=0;FS=143.297;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.49;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,12:122:99:0|1:11018647_C_G:103,0,4503:11018647	18	0	1	0
chr3	11018648	11018648	A	G	exonic	SLC6A1	.	nonsynonymous SNV	SLC6A1:NM_001348250:exon5:c.A421G:p.I141V,SLC6A1:NM_001348251:exon5:c.A61G:p.I21V,SLC6A1:NM_003042:exon5:c.A421G:p.I141V	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0134550420386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.383e-06	1.029e-05	1.377e-06	1.388e-06	1.822e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.822e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.336	0.18232	T	0.1	0.25713	B	0.09	0.29851	B	0.000001	0.84330	D	0.000000	1	0.81001	D	1.425	0.35738	L	-0.81	0.73949	T	-0.8	0.22078	N	0.48	0.51494	-0.6455	0.62909	T	0.281	0.65239	T	10	0.49007845	0.60939	T	0.013455	0.32862	T	0.274	0.59007	0.594	0.72371	0.35158688536	0.34763	0.606656179932116	0.60596	1.10768363041	0.77946	0.767571687698	0.77061	T	0.166415	0.51264	T	0.0481983	0.58110	T	-0.168543	0.57575	T	0.885394752025604	0.53572	D	0.946405	0.79487	D	0.3557571	0.57511	0.3215052	0.58098	0.3557571	0.57512	0.3215052	0.58097	-7.56	0.58031	D	0.21143025180598024	0.28348	0.131	0.40873	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.885109	0.56491	23.7	0.99830203036871212	0.91198	0.98607	0.84635	D	AEFDBI	0.949265	0.96174	D	0.0702871894512385	0.45080	2.770647	0.228486286727377	0.51435	3.32594	0.999999727637841	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	9.197000	0.94121	11.280000	0.91702	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.420	0.66752	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	100.59	34	chr3	11018648	.	A	G	100.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.337;DP=1226;ExcessHet=0.119;FS=143.297;InbreedingCoeff=-0.07;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=1.57;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,12:122:99:0|1:11018647_C_G:103,0,4503:11018647	16	0	2	1
chr3	11018650	11018650	C	G	exonic	SLC6A1	.	nonsynonymous SNV	SLC6A1:NM_001348250:exon5:c.C423G:p.I141M,SLC6A1:NM_001348251:exon5:c.C63G:p.I21M,SLC6A1:NM_003042:exon5:c.C423G:p.I141M	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.168165705583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.921e-07	2.745e-05	0	1.39e-06	9.12e-07	0	0	.	.	0	0	0	0	0	0	9.12e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.056	0.46632	T	0.997	0.70673	D	0.983	0.75793	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	-0.86	0.74477	T	-2.72	0.57920	D	0.712	0.71498	-0.1389	0.79192	T	0.487	0.80481	T	10	0.740451	0.74920	D	0.168166	0.84634	D	0.549	0.81310	0.642	0.77903	0.775990597106	0.77392	0.7922737914106367	0.79179	2.20691490998	0.95719	0.801707386971	0.82223	T	0.479037	0.80861	T	0.223315	0.76090	D	0.0830001	0.75779	D	0.992396652698517	0.82863	D	0.979902	0.93196	D	0.84575653	0.87024	0.824651	0.89838	0.84575653	0.87025	0.824651	0.89839	-9.95	0.73612	D	0.4152341453612568	0.50488	0.503	0.74451	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.233609	0.28512	17.82	0.99523552016800376	0.69407	0.49042	0.28344	N	AEFDBI	0.466840	0.51432	N	-0.0123338758181482	0.41298	2.467657	-0.19231532369841	0.31818	1.804246	0.126199393065238	0.16994	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	-2.98	0.05179	-0.318000	0.08091	-8.895000	0.00897	0.547000	0.25779	0.340000	0.25675	0.000000	0.08366	0.998000	0.85391	0.0:0.2937:0.0:0.7063	13.005	0.58106	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	594.8	102	chr3	11018650	.	C	G	594.8	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-2.351;DP=1828;ExcessHet=0.7564;FS=184.928;InbreedingCoeff=-0.2947;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=1.66;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,12:122:99:0|1:11018647_C_G:103,0,4503:11018647	7	0	2	10
chr3	11018654	11018654	A	G	exonic	SLC6A1	.	nonsynonymous SNV	SLC6A1:NM_001348250:exon5:c.A427G:p.I143V,SLC6A1:NM_001348251:exon5:c.A67G:p.I23V,SLC6A1:NM_003042:exon5:c.A427G:p.I143V	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.501	0.0235481953059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.15665	T	0.325	0.18846	T	0.999	0.77913	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.54	0.38927	L	-0.97	0.75670	T	-0.42	0.14193	N	0.431	0.47022	-0.2256	0.77003	T	0.446	0.78203	T	10	0.73895884	0.74820	D	0.023548	0.46515	T	0.501	0.78413	0.651	0.78858	0.699533008514	0.69693	0.7291083010060595	0.72855	1.36049371721	0.84323	0.85450553894	0.90293	D	0.152024	0.49223	T	0.0609312	0.59730	T	-0.150253	0.59221	T	0.949715793132782	0.63174	D	0.921708	0.71584	D	0.18418859	0.39723	0.1642013	0.38051	0.18418859	0.39722	0.1642013	0.38050	-4.846	0.35123	T	0.10910972120441913	0.09074	0.235	0.59080	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.575085	0.72214	25.8	0.99820221140467402	0.90326	0.98607	0.84635	D	AEFDBI	0.949265	0.96174	D	0.592272280113979	0.72691	5.845828	0.595767375292205	0.74636	6.170868	0.999999727637841	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	7.385000	0.79030	11.280000	0.91702	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.420	0.66752	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1818	277.31	105	chr3	11018654	.	A	G	277.31	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-3.101;DP=1834;ExcessHet=0.7564;FS=172.536;InbreedingCoeff=-0.2748;MLEAC=6;MLEAF=0.273;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.95;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,12:119:99:0|1:11018647_C_G:112,0,4412:11018647	7	0	4	8
chr3	13571581	13571581	C	T	exonic	FBLN2	.	nonsynonymous SNV	FBLN2:NM_001004019:exon2:c.C1226T:p.P409L,FBLN2:NM_001165035:exon2:c.C1226T:p.P409L,FBLN2:NM_001998:exon2:c.C1226T:p.P409L	.	424	1055	43	0	0	43	0.0199721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	.	0.0029	0.0107827	0.0092	0.0012	0.0020	0.0001	0.0002	0.0045	0.0036	0.0495	0.0082211	1271	154602	rs113265853	0.0067	0.0067	0.0055	0.0079	0.0456	0.0066	0.0065	0.0445	0.0440	0.0007	0.0017	0.0079	0.0001	0.0005	0.0151	0.0045	0.0078	0.0456	0.0044	0.0044	0.0040	0.0049	0.0370	0.0042	0.0040	0.0326	0.0309	0.0013	0	0.0029	0.0072	0	0.0006	0.0102	0.0052	0.0057	0.0370	0.142	0.25457	T	0.229	0.25210	T	0.037	0.20876	B	0.006	0.12133	B	0.707188	0.10044	N	0.862260	0.999978	0.18612	N	1.5	0.37844	L	-1.21	0.78645	T	-1.09	0.28290	N	0.134	0.13055	-0.9270	0.44573	T	0.170	0.51020	T	10	0.0025327504	0.00038	T	.	.	.	0.107	0.30369	.	.	0.256237801699	0.25221	0.42514303904641865	0.42431	0.126456553319	0.14255	0.256454885006	0.04477	T	0.227162	0.59237	T	-0.483817	0.00703	T	-0.43489	0.29382	T	0.00595067492918667	0.00065	T	0.684232	0.29249	T	0.03889599	0.05269	0.03206822	0.01886	0.03889599	0.05269	0.03206822	0.01886	-7.252	0.60064	T	.	.	0.074	0.06849	B	.;.;.	.;.;.	0.804273	0.11749	8.326	0.43754700355444892	0.03316	0.14055	0.18198	N	AEFDBI	0.085707	0.17376	N	-0.957163362943768	0.09532	0.4515708	-0.981177737210309	0.10209	0.5126888	0.998497507380997	0.37071	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.85	0.861	0.18186	0.731000	0.25726	-1.422000	0.05477	0.599000	0.40250	0.078000	0.22289	0.000000	0.08366	0.007000	0.07825	0.0:0.6287:0.1376:0.2337	5.851	0.17945	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019134	0.005051	0.012228	0.008772	0.050000	0.034483	0.030488	0.030303	0.07895	4932.79	34	chr3	13571581	.	C	T	4932.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.21;DP=1003;ExcessHet=0.3672;FS=3.393;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.752;SOR=0.544	GT:AD:DP:GQ:PL	0/1:68,64:132:99:1626,0,1512	16	0	3	0
chr3	14158513	14158513	T	C	exonic	XPC	.	nonsynonymous SNV	XPC:NM_001354726:exon8:c.A791G:p.D264G,XPC:NM_001354727:exon9:c.A1370G:p.D457G,XPC:NM_001354729:exon9:c.A1352G:p.D451G,XPC:NM_001354730:exon9:c.A1370G:p.D457G,XPC:NM_004628:exon9:c.A1370G:p.D457G	Xeroderma pigmentosum, group C, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0296908413538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.014	0.62352	D	0.291	0.32334	B	0.217	0.37636	B	0.021198	0.26883	N	0.409870	0.697013	0.33383	D	2.135	0.59519	M	1.2	0.37405	T	-2.81	0.59389	D	0.139	0.13769	-0.8726	0.50333	T	0.107	0.38931	T	10	0.16393706	0.30683	T	0.029691	0.52149	D	0.074	0.21613	0.199	0.11247	0.253205268125	0.24938	0.3517453119887073	0.35088	0.158322275687	0.17880	0.339202880859	0.16318	T	0.371166	0.73558	T	-0.165059	0.25985	T	-0.474872	0.24994	T	0.527905464172363	0.33656	D	0.654835	0.26514	T	0.25415453	0.48441	0.1824565	0.41173	0.25415453	0.48441	0.1824565	0.41172	-3.201	0.12493	T	0.4274954006977505	0.51520	0.073	0.04764	B	.	.	1.837187	0.23342	15.98	0.96596642866554205	0.30391	0.92053	0.54840	D	AEFBCI	0.274881	0.38996	N	-0.358066881171422	0.26977	1.476526	-0.372752827063915	0.25812	1.421844	0.999994269119281	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	3.31	0.37025	2.373000	0.43920	1.789000	0.28782	0.665000	0.62972	0.998000	0.41325	0.025000	0.21018	0.064000	0.16252	0.0:0.137:0.0:0.863	10.005	0.41123	789	0.46346	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1338.33	37	chr3	14158513	.	T	C	1338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.327;DP=748;ExcessHet=0;FS=1.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.783;SOR=0.495	GT:AD:DP:GQ:PL	0/1:45,50:95:99:1352,0,1226	18	0	1	0
chr3	38581298	38581298	C	G	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon17:c.G2861C:p.R954T,SCN5A:NM_001099404:exon17:c.G2861C:p.R954T,SCN5A:NM_001099405:exon17:c.G2861C:p.R954T,SCN5A:NM_001160160:exon17:c.G2861C:p.R954T,SCN5A:NM_001160161:exon17:c.G2861C:p.R954T,SCN5A:NM_001354701:exon17:c.G2861C:p.R954T,SCN5A:NM_198056:exon17:c.G2861C:p.R954T	Atrial fibrillation, familial, 10, Autosomal dominant;Brugada syndrome 1, Autosomal dominant;Cardiomyopathy, dilated, 1E, Autosomal dominant;Heart block, nonprogressive, Autosomal dominant;Heart block, progressive, type IA, Autosomal dominant;Long QT syndrome-3, Autosomal dominant;Sick sinus syndrome 1, Autosomal recessive;Ventricular fibrillation, familial, 1	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.13183993391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.30097	T	0.123	0.35710	T	0.003	0.16867	B	0.014	0.18489	B	0.000003	0.62929	D	0.060852	0.582312	0.31089	N	0	0.06538	N	-1.7	0.83072	D	-0.1	0.11913	N	0.235	0.30118	-0.4320	0.71001	T	0.339	0.70551	T	10	0.24385747	0.41607	T	0.13184	0.81412	D	0.390	0.70603	0.297	0.26202	0.721647961302	0.71918	0.7447736514280714	0.74423	0.0401256696675	0.04292	0.407306671143	0.26084	T	0.381708	0.74396	T	0.0870376	0.62853	D	-0.112753	0.62391	T	0.668321907520294	0.39262	D	0.726327	0.56785	T	0.15542729	0.35128	0.13614973	0.32578	0.15542729	0.35127	0.13614973	0.32577	-1.747	0.02739	T	0.1818212988338712	0.23463	0.107	0.27069	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.368428	0.46533	22.3	0.84500309515401861	0.15328	0.88833	0.48954	D	AEFDBHCIJ	0.850146	0.76697	D	-0.313755539704577	0.28624	1.580419	-0.180818939327813	0.32241	1.832409	0.999999999993623	0.74766	0.615465	0.37627	0	0.586423	0.34054	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.59	4.59	0.56297	4.158000	0.57932	3.338000	0.37683	0.599000	0.40250	0.975000	0.34726	0.940000	0.28757	0.210000	0.22183	0.0:1.0:0.0:0.0	17.619	0.87977	551	0.72115	Sodium ion transport-associated;.;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2612.33	101	chr3	38581298	.	C	G	2612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.919;DP=1104;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-1.348;SOR=0.718	GT:AD:DP:GQ:PL	0/1:140,110:250:99:2626,0,3804	18	0	1	0
chr3	39383727	39383727	G	C	exonic	SLC25A38	.	startloss	SLC25A38:NM_001354798:exon1:c.G3C:p.M1?,SLC25A38:NM_017875:exon1:c.G3C:p.M1?	Anemia, sideroblastic, 2, pyridoxine-refractory, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452	0.352974777131	.	.	8.323e-06	0	0	0	0	0	0	6.064e-05	6.5e-06	1	154602	rs762340842	2.736e-06	2.736e-06	0	5.501e-06	4.637e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.116	0.36497	T	0.003	0.11197	B	0.006	0.12133	B	0.000315	0.45977	D	0.073825	1	0.81001	D	.	.	.	-1.24	0.78967	T	-0.53	0.16393	N	0.825	0.82057	-0.5060	0.68432	T	0.319	0.68874	T	9	0.98268574	0.98363	D	0.352975	0.92317	D	0.452	0.75211	0.992	0.99914	0.799485235877	0.79761	0.3370868445225146	0.33621	.	.	.	.	.	0.010424	0.09418	T	0.483923	0.93830	D	0.66	0.99401	D	0.985042810440063	0.76158	D	0.9	0.65058	D	0.6848416	0.77231	0.63371897	0.78623	0.6848416	0.77232	0.63371897	0.78624	-9.647	0.71771	D	.	.	.	.	.	.;.;.;.	.;.;.;.	3.686623	0.52507	23.2	0.98621705758528011	0.43785	0.92867	0.56741	D	ALL	0.036890	0.04988	N	-0.207073078859169	0.32843	1.856762	-0.145996745561596	0.33562	1.921149	0.999999999999991	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.25	4.25	0.49658	4.377000	0.59330	10.809000	0.83812	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.038000	0.14061	0.0:0.0:1.0:0.0	12.005	0.52547	779	0.47767	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1311.33	33	chr3	39383727	.	G	C	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.058;DP=724;ExcessHet=0;FS=1.554;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.44;SOR=0.883	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1325,0,1496	18	0	1	0
chr3	40044238	40044238	A	G	exonic	MYRIP	.	nonsynonymous SNV	MYRIP:NM_001284423:exon3:c.A299G:p.K100R,MYRIP:NM_001284424:exon3:c.A299G:p.K100R,MYRIP:NM_001284425:exon3:c.A169G:p.R57G,MYRIP:NM_015460:exon3:c.A299G:p.K100R	.	430	1081	10	1	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0182370416144	.	0.00179712	0.0032	0.0004	0.0023	0	0.0003	0.0046	0.0033	0.0028	0.0027684	428	154602	rs78333608	0.0031	0.0031	0.0029	0.0032	0.0116	0.0030	0.0030	0.0094	0.0086	0.0008	0.0031	0.0132	2.519e-05	0.0004	0.0116	0.0031	0.0040	0.0029	0.0027	0.0027	0.0030	0.0023	0.0036	0.0025	0.0024	0.0032	0.0031	0.0007	0	0.0025	0.0176	0	0.0003	0.0102	0.0036	0.0066	0.0025	0.153	0.24372	T	0.686	0.06325	T	0.016	0.17332	B	0.006	0.12133	B	0.000002	0.62929	D	0.057568	0.870215	0.36039	D	.	.	.	-1.05	0.76690	T	-0.77	0.21429	N	0.38	0.42149	-1.0714	0.09108	T	0.038	0.16376	T	9	0.007050365	0.00160	T	0.018237	0.40237	T	0.171	0.43483	.	.	0.747945037046	0.74567	0.17237666544480867	0.17157	0.0958547809108	0.10824	0.505407094955	0.39581	T	0.103352	0.41192	T	-0.413328	0.01889	T	-0.366501	0.37298	T	0.010854448576527	0.00155	T	0.756624	0.37993	T	0.07325204	0.16357	0.07547721	0.16620	0.07325204	0.16356	0.07547721	0.16620	-4.442	0.30705	T	.	.	0.090	0.12512	B	.;.;.	.;.;.	2.387104	0.30647	18.50	0.99485037414579836	0.67124	0.81850	0.41173	D	AEFBCI	0.534868	0.55373	D	-0.265677819356349	0.30483	1.700102	-0.0652685974124645	0.36836	2.148911	0.999537568198276	0.40238	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.51	4.15	0.47978	3.759000	0.54939	5.854000	0.50366	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.9043:0.0:0.0957:0.0	9.706	0.39380	860	0.33753	Rab-binding domain;Rab-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	0.008560	0.010101	0.010870	0.002924	0.000000	0.000000	0.015244	0.011364	0.05263	5061.83	42	chr3	40044238	.	A	G	5061.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.558;DP=938;ExcessHet=0.119;FS=3.619;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.575;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,68:168:99:0|1:40044238_A_G:2522,0,3903:40044238	17	0	2	0
chr3	40044239	40044239	G	A	exonic	MYRIP	.	nonsynonymous SNV	MYRIP:NM_001284425:exon3:c.G170A:p.R57K	.	431	1080	10	1	0	12	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00357324005961	.	0.00179712	0.0032	0.0004	0.0023	0	0.0003	0.0046	0.0033	0.0028	0.0027684	428	154602	rs75059664	0.0031	0.0031	0.0029	0.0032	0.0116	0.0030	0.0030	0.0094	0.0086	0.0008	0.0031	0.0132	2.519e-05	0.0004	0.0116	0.0031	0.0040	0.0029	0.0027	0.0027	0.0030	0.0023	0.0036	0.0025	0.0024	0.0032	0.0031	0.0007	0	0.0025	0.0176	0	0.0003	0.0102	0.0036	0.0066	0.0025	0.066	0.36113	T	0.329	0.18617	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.72	0.26588	T	-1.27	0.31981	N	0.227	0.25499	-1.0767	0.08003	T	0.042	0.18035	T	7	0.0034650266	0.00061	T	0.003573	0.08154	T	0.078	0.22779	.	.	0.276898752692	0.27294	.	.	.	.	.	.	.	.	.	.	-0.439613	0.01300	T	-0.404257	0.32890	T	0.00482526047398929	0.00052	T	0.259074	0.04125	T	.	.	.	.	.	.	.	.	-3.986	0.23594	T	.	.	0.089	0.12132	B	.	.	0.336994	0.07107	3.682	0.91495170851510488	0.20769	0.75806	0.37136	D	AEFBCI	0.106788	0.21295	N	-0.898890919636809	0.10868	0.5215509	-0.783454552380941	0.14900	0.7809845	0.996668658651023	0.34909	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.51	2.64	0.30504	3.215000	0.50871	1.109000	0.24140	-1.332000	0.01214	1.000000	0.71638	0.897000	0.27914	0.812000	0.38265	0.221:0.0:0.779:0.0	11.507	0.49724	860	0.33753	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.010101	0.010870	0.002924	0.000000	0.000000	0.015244	0.007576	0.05263	5061.83	42	chr3	40044239	.	G	A	5061.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.5;DP=935;ExcessHet=0.119;FS=3.619;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.351;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,68:168:99:0|1:40044238_A_G:2522,0,3903:40044238	17	0	2	0
chr3	42685820	42685820	C	G	exonic	KLHL40	.	nonsynonymous SNV	KLHL40:NM_152393:exon1:c.C202G:p.R68G	Nemaline myopathy 8, autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0365068757995	.	.	1.742e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs771098609	2.739e-06	2.736e-06	0	5.505e-06	4.639e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.639e-05	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.175	0.22400	T	0.075	0.42794	T	0.001	0.07471	B	0.001	0.04355	B	0.934554	0.08396	N	0.969671	0.99944	0.21199	N	-0.495	0.02627	N	-0.21	0.66294	T	-1.87	0.43717	N	0.085	0.06190	-0.9683	0.37551	T	0.088	0.34050	T	10	0.10285765	0.18876	T	0.036507	0.57034	D	0.196	0.47777	0.623	0.75803	0.143124449307	0.13826	0.47903360002961326	0.47823	0.842300171656	0.68125	0.329316020012	0.14830	T	0.24819	0.61795	T	-0.322617	0.06685	T	-0.600563	0.12765	T	0.0381032497010063	0.03350	T	0.235276	0.03258	T	0.06349709	0.13375	0.098628506	0.23520	0.06349709	0.13375	0.098628506	0.23519	-2.183	0.03959	T	0.08327712177457239	0.04482	0.056	0.00505	B	.	.	-0.374157	0.02310	0.245	0.69655109701440043	0.09042	0.18377	0.20235	N	AEFDBI	0.092143	0.18658	N	-1.42362988390406	0.02432	0.1073994	-1.43816780286095	0.02879	0.1332612	0.999999987568957	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	5.13	-8.75	0.00721	0.311000	0.19129	-4.293000	0.02233	-0.100000	0.15956	0.831000	0.30147	0.000000	0.08366	0.075000	0.16954	0.2145:0.4674:0.3181:0.0	9.447	0.37867	358	0.85037	BTB/POZ domain|BTB/POZ domain|BTB/POZ 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	.	.	.	.	.	.	.	.	0.02632	2760.33	36	chr3	42685820	.	C	G	2760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.947;DP=840;ExcessHet=0;FS=1.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=1.76;SOR=0.548	GT:AD:DP:GQ:PL	0/1:87,106:193:99:2774,0,2189	18	0	1	0
chr3	44447422	44447422	T	A	exonic	ZNF445	.	nonsynonymous SNV	ZNF445:NM_001369454:exon7:c.A2213T:p.Q738L,ZNF445:NM_181489:exon8:c.A2249T:p.Q750L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.01088048006	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs752800002	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.768	0.03402	T	0.401	0.14961	T	0.118	0.26577	B	0.037	0.23121	B	0.265270	0.15234	N	0.552822	1	0.08975	N	0.29	0.10111	N	3.28	0.06523	T	-0.54	0.16598	N	0.323	0.36359	-0.9059	0.47343	T	0.009	0.03183	T	10	0.056465715	0.06334	T	0.01088	0.27915	T	0.026	0.05648	0.385	0.40460	0.337439445736	0.33357	0.2690212344669273	0.26815	0.253544675859	0.27924	0.250206112862	0.03789	T	0.004	0.03512	T	-0.314254	0.07379	T	-0.592327	0.13465	T	0.0317784400162246	0.02271	T	.	.	.	0.024374453	0.01263	0.029745612	0.01347	0.024374453	0.01263	0.029745612	0.01347	-2.847	0.08624	T	.	.	0.101	0.20391	B	.;.	.;.	1.005683	0.13845	10.40	0.5453616111105295	0.05157	0.01231	0.04354	N	AEFDBCI	0.044485	0.07162	N	-1.08308696649813	0.06954	0.3216553	-1.059830109981	0.08503	0.418399	0.712833792382851	0.22840	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.49	0.795	0.17786	0.364000	0.20053	-0.080000	0.12189	-0.245000	0.07249	0.002000	0.15269	0.000000	0.08366	0.690000	0.33838	0.0:0.0:0.4224:0.5775	10.127	0.41832	288	0.88579	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	1804.33	36	chr3	44447422	.	T	A	1804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.092;DP=754;ExcessHet=0;FS=5.197;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.097;SOR=0.87	GT:AD:DP:GQ:PL	0/1:71,64:135:99:1818,0,2082	18	0	1	0
chr3	48433151	48433151	G	A	exonic	CCDC51	.	nonsynonymous SNV	CCDC51:NM_001256964:exon4:c.C493T:p.R165C,CCDC51:NM_001256965:exon4:c.C166T:p.R56C,CCDC51:NM_001256966:exon4:c.C166T:p.R56C,CCDC51:NM_001256967:exon4:c.C166T:p.R56C,CCDC51:NM_001256968:exon4:c.C166T:p.R56C,CCDC51:NM_001256969:exon4:c.C166T:p.R56C,CCDC51:NM_024661:exon4:c.C493T:p.R165C	.	431	1076	14	1	0	16	0.00738007	.	.	.	720506	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.229	.	.	0.00579073	0.0060	0	0.0004	0.0001	0	6.351e-05	0.0023	0.0428	0.0048188	745	154602	rs34044760	0.0026	0.0026	0.0014	0.0038	0.0412	0.0025	0.0025	0.0401	0.0396	0.0002	2.238e-05	0	0.0002	0	0.0026	2.071e-05	0.0021	0.0412	0.0013	0.0013	0.0006	0.0019	0.0385	0.0011	0.0011	0.0340	0.0323	2.405e-05	0	0	0	0.0002	0	0.0034	4.409e-05	0.0005	0.0385	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000017	0.62929	D	0.118054	1	0.81001	D	2.625	0.76847	M	1.49	0.31470	T	-3.83	0.72120	D	0.874	0.88798	-0.7677	0.56984	T	0.187	0.53782	T	10	0.0046747625	0.00098	T	.	.	.	0.229	0.52916	0.396	0.42262	0.580186101316	0.57690	0.24809570692682759	0.24723	0.980953571967	0.73737	0.513428688049	0.40703	T	0.219361	0.58235	T	-0.299173	0.08738	T	-0.171101	0.57342	T	0.092709675722794	0.11535	T	0.955304	0.82980	D	0.2875993	0.51769	0.19448353	0.43074	0.2875993	0.51769	0.19448353	0.43073	-9.322	0.69745	D	.	.	0.260	0.49490	B	.;.;.;.	.;.;.;.	5.545805	0.92007	32	0.99934861250546569	0.99579	0.90475	0.51682	D	AEFDGBHCI	0.828817	0.74784	D	0.66105202752361	0.77086	6.607418	0.591569462264956	0.74334	6.119359	0.999999999997832	0.74766	0.675202	0.55065	0	0.696144	0.67643	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	5.36	5.36	0.76624	4.969000	0.63449	11.772000	0.95887	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:0.0:0.8398:0.1602	13.101	0.58632	15	0.98792	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004103	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015385	0.02632	1562.33	37	chr3	48433151	.	G	A	1562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.219;DP=795;ExcessHet=0;FS=0.73;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=-0.226;SOR=0.824	GT:AD:DP:GQ:PL	0/1:47,59:106:99:1576,0,1227	18	0	1	0
chr3	50340783	50340783	A	G	exonic	RASSF1	.	nonsynonymous SNV	RASSF1:NM_007182:exon1:c.T23C:p.I8T,RASSF1:NM_170714:exon1:c.T23C:p.I8T	Lung cancer, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.850240660668	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1336006640	5.876e-06	8.209e-06	8.716e-06	2.972e-06	6.445e-05	2.53e-06	1.83e-06	1.067e-05	3.99e-06	0	0	0	6.445e-05	0	0	4.661e-06	0	1.289e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.351	0.19721	T	0.999	0.77913	D	0.994	0.82059	D	0.014612	0.28482	N	0.295707	0.999987	0.54805	D	1.04	0.26193	L	-1.29	0.79475	T	-1.1	0.28497	N	0.569	0.60579	-0.0752	0.80660	T	0.486	0.80421	T	10	0.6942888	0.72047	D	0.850241	0.98845	D	0.438	0.74235	0.128	0.03331	0.976853939544	0.97660	0.6832497647287618	0.68263	1.2823345532	0.82575	0.926550149918	0.98780	D	0.159459	0.50291	T	0.259577	0.79491	D	0.135088	0.79225	D	0.62740833067999	0.37511	D	0.792821	0.43457	T	0.20659274	0.42839	0.21296301	0.45787	0.20659274	0.42839	0.21296301	0.45786	-4.429	0.29948	T	.	.	0.711	0.77442	P	.;.	.;.	4.584175	0.72443	25.8	0.99623289604939114	0.75533	0.93637	0.58764	D	ALL	0.943435	0.94928	D	0.503117916222944	0.67273	5.059788	0.523629560092051	0.69585	5.381245	0.99999999999998	0.74766	0.685219	0.55550	0	0.52208	0.09955	0	0.674405	0.61402	0	0.56751	0.32155	0	.	.	5.35	5.35	0.76297	7.707000	0.83595	10.978000	0.84582	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.8311:0.0:0.0:0.1689	8.738	0.33699	2	0.99499	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	590.33	33	chr3	50340783	.	A	G	590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.574;DP=673;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.702;SOR=0.784	GT:AD:DP:GQ:PL	0/1:29,20:49:99:604,0,932	18	0	1	0
chr3	58428581	58428581	T	A	exonic	PDHB	.	nonsynonymous SNV	PDHB:NM_001315536:exon8:c.A772T:p.M258L,PDHB:NM_000925:exon9:c.A826T:p.M276L,PDHB:NM_001173468:exon10:c.A772T:p.M258L	Pyruvate dehydrogenase E1-beta deficiency	.	.	.	.	.	.	.	.	.	.	977988	Pyruvate_dehydrogenase_complex_deficiency|Pyruvate_dehydrogenase_E1-beta_deficiency	MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:765,Orphanet:79243|MONDO:MONDO:0013580,MedGen:C3279841,OMIM:614111,Orphanet:255138,Orphanet:765	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.197	0.0294086841065	.	0.000399361	0.0003	0	0	0	0	0	0.0011	0.0019	0.0002264	35	154602	rs372743787	0.0001	0.0001	5.855e-05	0.0001	0.0016	8.85e-05	8.335e-05	0.0014	0.0013	0	0	0	0	0	0	6.297e-06	4.969e-05	0.0016	7.876e-05	7.873e-05	2.569e-05	0.0001	0.0025	4.492e-05	3.509e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.596	0.05703	T	0.646	0.06859	T	0.0	0.19406	B	0.001	0.23361	B	0.000260	0.46924	D	0.250146	0.897475	0.27766	N	-0.01	0.05129	N	-2.65	0.90210	D	-0.33	0.13805	N	0.261	0.35832	-0.5946	0.65036	T	0.498	0.80985	T	10	0.017248362	0.00367	T	0.029409	0.51922	D	0.197	0.47942	0.395	0.42099	0.942884942728	0.94229	0.4190998959928851	0.41825	0.379131718483	0.39314	0.291305243969	0.09112	T	0.289822	0.66260	T	-0.37044	0.03571	T	-0.312151	0.43427	T	0.0536388591422337	0.06129	T	0.965403	0.87236	D	0.23821974	0.46697	0.15200262	0.35782	0.23821974	0.46697	0.15200262	0.35781	-3.981	0.23518	T	0.11158007631717998	0.09556	0.117	0.31832	B	.;.;.;.	.;.;.;.	2.122756	0.27023	17.32	0.89881318829483869	0.19184	0.86038	0.45246	D	AEFDBCI	0.521339	0.54581	D	-0.235691602127365	0.31677	1.778726	0.0232659446146634	0.40796	2.440579	0.999999388471018	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	2.935000	0.48657	0.337000	0.17343	0.663000	0.56723	1.000000	0.71638	0.998000	0.33993	0.995000	0.73285	0.0:0.0:0.0:1.0	16.566	0.84437	411	0.82069	Transketolase, C-terminal domain;.;.;Transketolase, C-terminal 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1253.33	35	chr3	58428581	.	T	A	1253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=763;ExcessHet=0;FS=7.409;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-1.751;SOR=1.472	GT:AD:DP:GQ:PL	0/1:50,44:94:99:1267,0,1380	18	0	1	0
chr3	75664401	75664401	C	A	exonic	FRG2C	.	nonsynonymous SNV	FRG2C:NM_001124759:exon1:c.C22A:p.P8T	.	444	1076	2	0	0	2	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.198970959228	.	.	.	.	.	.	.	.	.	.	0.0001488	23	154602	rs77483733	0.0024	0.0024	0.0023	0.0024	0.0610	0.0023	0.0023	0.0590	0.0582	2.993e-05	4.473e-05	0	0.0610	0.0049	0	0.0002	0.0038	0.0038	0.0024	0.0025	0.0020	0.0028	0.0502	0.0022	0.0021	0.0452	0.0432	0.0002	0	0.0001	0	0.0502	0.0038	0	0.0004	0.0014	0.0052	0.562	0.06341	T	0.741	0.04982	T	0.004	0.12183	B	0.01	0.14941	B	0.905707	0.08588	U	0.930858	1	0.08975	N	0.345	0.11182	N	1.57	0.29342	T	-1.56	0.37759	N	0.069	0.04188	-0.9944	0.31459	T	0.035	0.14987	T	9	0.004037738	0.00078	T	0.198971	0.86625	D	0.045	0.12272	0.144	0.04746	0.0401082797425	0.02173	0.012025101400946616	0.01161	.	.	.	.	.	0.022065	0.17078	T	-0.634606	0.00090	T	-0.630891	0.10348	T	0.0230427016499927	0.01029	T	0.211579	0.02577	T	0.04899747	0.08630	0.06833749	0.14257	0.04899747	0.08629	0.06833749	0.14257	-3.339	0.14245	T	.	.	0.055	0.00375	B	.;.	.;.	-0.841626	0.01028	0.043	0.52915801883311298	0.04839	0.01611	0.05216	N	AEFI	0.032739	0.03752	N	-1.14039961821758	0.05940	0.272127	-1.17091985999595	0.06400	0.3079492	0.704577674711711	0.22743	0.582742	0.33608	0	0.547309	0.14657	0	0.61531	0.40942	0	0.613276	0.41899	0	.	.	0.517	0.517	0.16223	-1.177000	0.03206	.	.	-2.788000	0.00188	0.036000	0.20778	0.000000	0.08366	0.000000	0.00833	.	.	.	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1792.83	70	chr3	75664401	.	C	A	1792.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.22;DP=1377;ExcessHet=0.119;FS=12.877;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=53.41;MQRankSum=4.79;QD=7.79;ReadPosRankSum=-0.022;SOR=0.261	GT:AD:DP:GQ:PL	0/1:82,47:129:99:1095,0,2549	17	0	2	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	47576.4	207	chr3	75730451	.	T	G	47576.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.127;DP=2663;ExcessHet=48.2876;FS=6.146;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.47;MQRankSum=-6.987;QD=18.24;ReadPosRankSum=0.373;SOR=0.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,107:187:99:0|1:75730291_A_G:4204,0,2996:75730291	0	0	19	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1826.72	112	chr3	75730611	.	G	T	1826.72	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.712;DP=1498;ExcessHet=8.9063;FS=32.245;InbreedingCoeff=-0.4111;MLEAC=11;MLEAF=0.289;MQ=56.36;MQRankSum=-6.363;QD=2.05;ReadPosRankSum=-2.834;SOR=8.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,17:90:99:.:.:479,0,3005:.	8	0	11	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10260.0	245	chr3	75736884	.	G	GA	10260.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.122;DP=2735;ExcessHet=25.4433;FS=3.097;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=56.86;MQRankSum=-7.226;QD=4.72;ReadPosRankSum=0.758;SOR=0.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:145,38:183:99:.:.:534,0,5780:.	3	0	16	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	27506.3	251	chr3	75736891	.	G	A	27506.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.556;DP=2799;ExcessHet=38.2876;FS=3.537;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=56.93;MQRankSum=-8.927;QD=10.38;ReadPosRankSum=0.96;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,51:191:99:0|1:75736891_G_A:1720,0,5613:75736891	1	0	18	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25918.3	252	chr3	75736920	.	C	A	25918.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.21;DP=2877;ExcessHet=38.2876;FS=2.773;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=55.14;MQRankSum=-8.054;QD=9.41;ReadPosRankSum=0.484;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,51:194:99:0|1:75736891_G_A:1711,0,5851:75736891	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,50:199:99:0|1:75736891_G_A:1645,0,6071:75736891	1	0	18	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.4444	14961.5	225	chr3	75736981	.	T	C	14961.5	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-1.026;DP=2892;ExcessHet=25.4433;FS=1.222;InbreedingCoeff=-0.7673;MLEAC=17;MLEAF=0.472;MQ=52.48;MQRankSum=-7.191;QD=6.18;ReadPosRankSum=-1.421;SOR=0.789	GT:AD:DP:GQ:PL	0/1:141,45:186:99:930,0,4627	2	0	16	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	20724.0	217	chr3	75737012	.	C	T	20724.0	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-0.958;DP=3072;ExcessHet=31.086;FS=0.559;InbreedingCoeff=-0.8551;MLEAC=18;MLEAF=0.5;MQ=53.49;MQRankSum=-5.15;QD=7.81;ReadPosRankSum=-0.189;SOR=0.705	GT:AD:DP:GQ:PL	0/1:139,64:203:99:1559,0,4977	1	0	17	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	30914.3	256	chr3	75737060	.	A	G	30914.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.825;DP=3492;ExcessHet=48.2876;FS=0.535;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.88;MQRankSum=-5.378;QD=9.11;ReadPosRankSum=0.644;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:123,109:232:99:.:.:2876,0,4733:.	0	0	19	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52412.4	280	chr3	75737092	.	C	T	52412.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.868;DP=3617;ExcessHet=48.2876;FS=2.51;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.44;MQRankSum=-8.725;QD=14.68;ReadPosRankSum=2.04;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,119:247:99:0|1:75737092_C_T:4611,0,5016:75737092	0	0	19	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52218.4	279	chr3	75737094	.	T	A	52218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.675;DP=3606;ExcessHet=48.2876;FS=2.513;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.56;MQRankSum=-8.714;QD=14.56;ReadPosRankSum=1.95;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,120:252:99:0|1:75737092_C_T:4641,0,5181:75737092	0	0	19	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	51218.4	275	chr3	75737105	.	T	A	51218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.193;DP=3583;ExcessHet=48.2876;FS=3.337;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.97;MQRankSum=-9.931;QD=14.38;ReadPosRankSum=1.42;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,118:251:99:0|1:75737092_C_T:4554,0,5229:75737092	0	0	19	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	45019.4	258	chr3	75737127	.	A	C	45019.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.02;DP=3367;ExcessHet=48.2876;FS=6.221;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.5;MQRankSum=-10.9;QD=13.47;ReadPosRankSum=1.25;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,109:239:99:0|1:75737092_C_T:4186,0,5131:75737092	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,77:202:99:0|1:75737092_C_T:2857,0,5007:75737092	0	0	19	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2269.04	121	chr3	75737228	.	T	C	2269.04	.	AC=12;AF=0.316;AN=38;BaseQRankSum=2.66;DP=2050;ExcessHet=11.1788;FS=19.091;InbreedingCoeff=-0.4377;MLEAC=11;MLEAF=0.289;MQ=57.49;MQRankSum=-8.916;QD=1.88;ReadPosRankSum=-2.183;SOR=2.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,13:151:99:.:.:108,0,5709:.	7	0	12	0
chr3	75737305	75737305	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2318G:p.L773R,ZNF717:NM_001290208:exon5:c.T2318G:p.L773R,ZNF717:NM_001290209:exon5:c.T2168G:p.L723R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.00331934626058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.61	0.53516	T	-4.05	0.74504	D	0.471	0.50688	-0.8526	0.51788	T	0.290	0.66162	T	9	0.37885755	0.54040	T	0.003319	0.07390	T	0.312	0.63375	.	.	0.339555952218	0.33569	0.04195265777246963	0.04140	.	.	0.605777144432	0.53720	T	.	.	.	-0.0399953	0.45950	T	-0.295227	0.45225	T	0.929656445980072	0.59385	D	0.718628	0.33152	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.58953	A	.	.	2.543601	0.32911	19.18	0.99387992568594197	0.62202	0.15034	0.18711	N	AEFDBHCI	0.394461	0.47171	N	0.0972906044305647	0.46335	2.875525	-0.196168874740586	0.31677	1.794957	0.999999972591631	0.74766	0.632932	0.41330	0	0.666794	0.63253	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.74	1.74	0.23636	4.921000	0.63096	.	.	-0.170000	0.11276	0.822000	0.30018	0.003000	0.18671	0.001000	0.02609	1.0:0.0:0.0:0.0	7.585	0.27156	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	.	.	.	.	.	.	.	.	0.02632	1632.33	127	chr3	75737305	.	A	C	1632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.957;DP=2102;ExcessHet=0;FS=4.014;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.61;MQRankSum=3;QD=10.33;ReadPosRankSum=-0.767;SOR=1.028	GT:AD:DP:GQ:PL	0/1:107,51:158:99:1646,0,4166	18	0	1	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,161:286:99:1|0:75737511_A_T:6109,0,4612:75737511	0	0	19	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	80980.4	254	chr3	75737590	.	A	G	80980.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.318;DP=4255;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.17;MQRankSum=-12.03;QD=19.35;ReadPosRankSum=0.753;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,165:304:99:0|1:75737590_A_G:6458,0,5298:75737590	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,178:326:99:0|1:75737590_A_G:7029,0,5679:75737590	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,184:348:99:0|1:75737590_A_G:7232,0,6332:75737590	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,160:335:99:0|1:75737590_A_G:6192,0,6867:75737590	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,145:324:99:0|1:75737590_A_G:5550,0,7080:75737590	0	0	19	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	46731.8	276	chr3	75737840	.	C	T	46731.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.149;DP=4419;ExcessHet=31.086;FS=11.167;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=58.89;MQRankSum=-4.862;QD=12.26;ReadPosRankSum=-0.338;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,129:366:99:0|1:75737814_C_T:4611,0,9079:75737814	1	0	17	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	22517.3	279	chr3	75737881	.	T	C	22517.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.903;DP=3953;ExcessHet=38.2876;FS=17.658;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.41;MQRankSum=-7.695;QD=6.2;ReadPosRankSum=-4.196;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:243,69:312:99:0|1:75737881_T_C:1786,0,9645:75737881	1	0	18	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	17868.3	263	chr3	75737891	.	G	GAAAT	17868.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.54;DP=3685;ExcessHet=38.2876;FS=22.758;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.24;MQRankSum=-9.11;QD=5.14;ReadPosRankSum=-4.094;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,51:287:99:0|1:75737881_T_C:1302,0,9643:75737881	1	0	18	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	16790.3	259	chr3	75737893	.	A	ACTT	16790.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.064;DP=3615;ExcessHet=38.2876;FS=25.647;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.16;MQRankSum=-9.235;QD=4.92;ReadPosRankSum=-3.238;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:232,43:275:99:0|1:75737881_T_C:1107,0,9564:75737881	1	0	18	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	5464.78	121	chr3	75739165	.	C	T	5464.78	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.906;DP=2470;ExcessHet=17.0548;FS=18.205;InbreedingCoeff=-0.6172;MLEAC=14;MLEAF=0.389;MQ=56.72;MQRankSum=-8.722;QD=3.04;ReadPosRankSum=-1.272;SOR=1.252	GT:AD:DP:GQ:PL	0/1:119,41:160:99:813,0,3495	4	0	14	1
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	11257.3	145	chr3	75739283	.	G	T	11257.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.77;DP=1751;ExcessHet=38.2876;FS=0.577;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.65;MQRankSum=-4.905;QD=6.85;ReadPosRankSum=0.657;SOR=0.786	GT:AD:DP:GQ:PL	0/1:93,42:135:99:920,0,2705	1	0	18	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3550.9	41	chr3	98133456	.	ACCCC	A	3550.9	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.085;DP=1915;ExcessHet=4.0268;FS=132.409;InbreedingCoeff=-0.2667;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=1.07;SOR=10.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,26:119:99:.:.:492,0,3496:.	14	0	5	0
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	412.34	59	chr3	98133457	.	C	*	412.34	.	AC=8;AF=0.364;AN=22;BaseQRankSum=-2.924;DP=1837;ExcessHet=5.3738;FS=137.077;InbreedingCoeff=-0.52;MLEAC=11;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=3.2;SOR=10.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,26:115:99:.:.:535,0,3422:.	3	0	8	8
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	4817.21	59	chr3	98133460	.	C	CGGGG	4817.21	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-0.619;DP=1799;ExcessHet=6.9875;FS=160.379;InbreedingCoeff=-0.5511;MLEAC=6;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=1.07;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,26:116:99:.:.:532,0,3444:.	7	0	5	7
chr3	98283014	98283014	A	G	exonic	OR5H2	.	nonsynonymous SNV	OR5H2:NM_001005482:exon1:c.A127G:p.T43A	.	419	1042	58	3	0	64	0.0297952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0065	0.00539137	0.0065	0.0017	0.0061	0.0001	0.0008	0.0094	0.0099	0.0037	0.0063518	982	154602	rs138288586	0.0078	0.0078	0.0076	0.0080	0.0499	0.0077	0.0076	0.0452	0.0434	0.0020	0.0086	0.0137	7.56e-05	0.0012	0.0499	0.0083	0.0099	0.0047	0.0065	0.0065	0.0068	0.0062	0.0109	0.0062	0.0060	0.0095	0.0090	0.0021	0.0033	0.0109	0.0130	0.0004	0.0010	0.0442	0.0087	0.0175	0.0060	0.005	0.63226	D	0.016	0.60972	D	1.0	0.90584	D	0.998	0.88582	D	0.000995	0.40743	U	0.000000	1	0.08975	N	1.3	0.32576	L	6.94	0.01376	T	-4.77	0.80851	D	0.348	0.38950	-0.9212	0.45390	T	0.003	0.00864	T	10	0.004910052	0.00105	T	.	.	.	0.085	0.24743	.	.	0.483082108137	0.47938	0.1894909077158087	0.18867	0.128535529483	0.14494	0.273199915886	0.06563	T	0.010184	0.09221	T	-0.537174	0.00348	T	-0.531416	0.19145	T	0.0974352649828437	0.12072	T	0.665633	0.27494	T	0.677092	0.76812	0.5844975	0.75907	0.677092	0.76814	0.5844975	0.75908	-6.724	0.51991	T	.	.	0.144	0.31832	B	.;.	.;.	3.611633	0.51069	23.0	0.98460605800049295	0.41734	0.17022	0.19654	N	AEFDGI	0.077694	0.15659	N	-0.0972181323188493	0.37514	2.183617	-0.331202449396319	0.27097	1.501209	0.00147991741085891	0.08567	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.2	3.2	0.35826	5.548000	0.66963	.	.	0.665000	0.62972	0.908000	0.31627	0.670000	0.26062	0.013000	0.09966	1.0:0.0:0.0:0.0	9.723	0.39484	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.053877	0.045455	0.063859	0.058480	0.100000	0.086207	0.033537	0.015152	0.05263	5457.83	33	chr3	98283014	.	A	G	5457.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.279;DP=1714;ExcessHet=0.119;FS=1.094;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=1.59;SOR=0.784	GT:AD:DP:GQ:PL	0/1:136,115:251:99:2695,0,3654	17	0	2	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T,COL8A1:NM_001850:exon4:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1765	676.44	33	chr3	99790960	.	T	C	676.44	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-2.432;DP=2376;ExcessHet=2.0135;FS=86.712;InbreedingCoeff=-0.2304;MLEAC=7;MLEAF=0.206;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.172;SOR=11.394	GT:AD:DP:GQ:PL	0/1:120,26:146:73:73,0,2401	11	0	6	2
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3056	1558.48	47	chr3	100775333	.	T	C	1558.48	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-0.764;DP=760;ExcessHet=8.9063;FS=127.792;InbreedingCoeff=-0.4631;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.78;ReadPosRankSum=0.311;SOR=10.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,20:40:99:0|1:100775333_T_C:400,0,307:100775333	7	0	11	1
chr3	108353673	108353673	C	T	exonic	HHLA2	.	nonsynonymous SNV	HHLA2:NM_001282556:exon4:c.C311T:p.A104V,HHLA2:NM_001282557:exon4:c.C311T:p.A104V,HHLA2:NM_001370244:exon4:c.C311T:p.A104V,HHLA2:NM_007072:exon4:c.C311T:p.A104V,HHLA2:NM_001282558:exon5:c.C311T:p.A104V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.046612615768	.	.	3.326e-05	0	0	0	0	4.508e-05	0	6.073e-05	2.59e-05	4	154602	rs771206254	2.532e-05	2.531e-05	2.451e-05	2.614e-05	0.0001	1.868e-05	1.631e-05	3.984e-05	2.374e-05	0.0001	2.24e-05	3.827e-05	0	1.873e-05	0	2.159e-05	0	6.957e-05	8.548e-05	8.538e-05	0.0001	6.731e-05	0.0002	4.961e-05	3.965e-05	0.0001	8.458e-05	0.0002	0	6.555e-05	0	0	0	0	4.412e-05	0	0	0.367	0.45756	T	0.0	0.92824	D	0.998	0.73220	D	0.923	0.65830	D	0.000916	0.41128	D	0.000000	0.67604	0.81001	D	1.675	0.43121	L	-0.12	0.64630	T	-2.1	0.61865	N	0.678	0.72656	-0.5228	0.67811	T	0.288	0.65997	T	10	0.8000406	0.79420	D	0.046613	0.62540	D	0.408	0.72022	0.772	0.89846	0.787118677529	0.78515	0.42616866438014245	0.42533	0.655725557415	0.58609	0.369136095047	0.20709	T	0.047617	0.41014	T	-0.170831	0.25109	T	-0.301636	0.44553	T	0.748897671699524	0.43224	D	0.807619	0.45757	T	0.099418774	0.23461	0.14134547	0.33663	0.099418774	0.23461	0.14134547	0.33662	-5.982	0.46129	T	.	.	0.277	0.55978	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.874893	0.56279	23.7	0.99901381478775919	0.97275	0.81116	0.40589	D	AEFBI	0.552018	0.56385	D	0.200269356718837	0.51213	3.304329	0.159813795275605	0.47663	2.993256	5.52880233240213E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	4.58	0.56077	2.648000	0.46313	1.650000	0.27840	0.599000	0.40250	0.999000	0.42656	0.899000	0.27943	0.201000	0.21925	0.0:0.9093:0.0:0.0907	10.640	0.44778	291	0.88420	Immunoglobulin V-set domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain;Immunoglobulin V-set domain;Immunoglobulin V-set domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain;Immunoglobulin V-set domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1405.33	33	chr3	108353673	.	C	T	1405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.687;DP=1266;ExcessHet=0;FS=2.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=1.13;SOR=0.925	GT:AD:DP:GQ:PL	0/1:79,59:138:99:1419,0,1956	18	0	1	0
chr3	115676196	115676196	G	C	exonic	GAP43	.	nonsynonymous SNV	GAP43:NM_002045:exon2:c.G214C:p.A72P,GAP43:NM_001130064:exon3:c.G322C:p.A108P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0138723661589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	0.0001	6.814e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	0	0	0.0002	6.304e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.116	0.48594	T	0.371	0.34093	B	0.27	0.39872	B	0.026388	0.25927	N	0.380184	1	0.08975	N	1.935	0.51832	L	0.81	0.48460	T	-1.44	0.36385	N	0.115	0.13055	-0.9747	0.36191	T	0.114	0.40559	T	10	0.13199726	0.25123	T	0.013872	0.33594	T	0.066	0.19193	0.401	0.43081	0.482646159919	0.47895	0.13216878396780574	0.13141	0.27922568898	0.30403	0.315461575985	0.12734	T	0.20433	0.56307	T	-0.115191	0.33911	T	-0.403241	0.33007	T	0.650220215320587	0.38471	D	0.59824	0.32735	T	0.29186904	0.52166	0.3267469	0.58579	0.29186904	0.52166	0.3267469	0.58578	-5.243	0.39376	T	.	.	0.142	0.35247	B	.;.	.;.	2.241624	0.28623	17.86	0.9963283397870325	0.76142	0.37808	0.25845	N	AEFBI	0.528119	0.54978	D	-0.309158098030579	0.28799	1.591533	-0.403764697157965	0.24886	1.36534	1.52725511360971E-4	0.05650	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	4.62	3.74	0.42108	2.136000	0.41744	2.479000	0.32931	0.676000	0.76740	0.127000	0.23295	0.120000	0.22892	0.064000	0.16252	0.1644:0.1547:0.6809:0.0	6.183	0.19696	935	0.14827	Neuromodulin (GAP-43), C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	90.93	76	chr3	115676196	.	G	C	90.93	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.197;DP=1627;ExcessHet=0.119;FS=169.168;InbreedingCoeff=-0.059;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=0.362;SOR=10.505	GT:AD:DP:GQ:PL	0/1:69,19:88:51:51,0,1419	17	0	2	0
chr3	119648196	119648196	A	G	exonic	POPDC2	.	nonsynonymous SNV	POPDC2:NM_001369919:exon3:c.T1073C:p.M358T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	.	0.00119808	0.0064	0.0014	0.0097	0	0	0.0118	0.0057	0	0.0020504	317	154602	rs138545017	0.0040	0.0040	0.0041	0.0039	0.0049	0.0039	0.0039	0.0048	0.0047	0.0004	0.0035	0.0002	0	0.0006	0.0014	0.0049	0.0038	7.457e-05	0.0028	0.0028	0.0027	0.0029	0.0049	0.0026	0.0025	0.0044	0.0043	0.0007	0	0.0035	0	0	0.0003	0.0034	0.0049	0.0052	0	0.144	0.25255	T	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.999788	0.81001	D	.	.	.	2.05	0.20664	T	-0.92	0.24676	N	0.455	0.49237	-0.9752	0.36082	T	0.115	0.40808	T	6	0.007886887	0.00179	T	.	.	.	0.086	0.25016	.	.	0.427139414373	0.42328	.	.	.	.	.	.	.	.	.	.	-0.554372	0.00274	T	-0.566759	0.15748	T	0.0131200195273093	0.00231	T	0.637136	0.25071	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.50979	B	.	.	2.938895	0.39066	20.9	0.9793162779351362	0.36964	0.94860	0.62581	D	AEFDBI	0.846959	0.76382	D	0.365225349419141	0.59547	4.135144	0.427588459050082	0.63288	4.559812	0.999999990941557	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	4.97	4.97	0.65419	5.681000	0.67839	11.215000	0.89546	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.820	0.69696	562	0.71143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1471.33	44	chr3	119648196	.	A	G	1471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.319;DP=802;ExcessHet=0;FS=6.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-1.257;SOR=0.756	GT:AD:DP:GQ:PL	0/1:71,65:136:99:1485,0,1767	18	0	1	0
chr3	121692003	121692003	T	C	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon13:c.A7121G:p.K2374R,GOLGB1:NM_001366283:exon13:c.A7238G:p.K2413R,GOLGB1:NM_001366284:exon13:c.A7121G:p.K2374R,GOLGB1:NM_001256486:exon14:c.A7361G:p.K2454R,GOLGB1:NM_001256487:exon14:c.A7244G:p.K2415R,GOLGB1:NM_001366282:exon14:c.A7361G:p.K2454R,GOLGB1:NM_004487:exon14:c.A7346G:p.K2449R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00410411187665	0.0005	0.000199681	0.0003	9.636e-05	8.637e-05	0	0.0008	0.0004	0	0	0.0002781	43	154602	rs141700840	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0	2.241e-05	0.0025	0	0.0007	0	0.0002	0.0004	0	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	2.405e-05	0	6.532e-05	0.0032	0	0.0004	0	0.0003	0.0005	0	0.554	0.07969	T	0.701	0.05707	T	0.005	0.12996	B	0.009	0.14300	B	0.000978	0.40836	D	0.173281	0.99653	0.22984	N	1.155	0.29575	L	2.53	0.14038	T	-0.39	0.13611	N	0.086	0.12055	-0.9975	0.30618	T	0.021	0.09009	T	10	0.0065080225	0.00147	T	0.004104	0.09806	T	0.058	0.16647	.	.	0.327952845175	0.32413	0.08809904998315389	0.08742	0.0922585899238	0.10416	0.349080562592	0.17786	T	0.015063	0.12707	T	-0.572359	0.00214	T	-0.747552	0.03582	T	0.0196461184613203	0.00667	T	0.79772	0.44325	T	0.03378218	0.03665	0.043009393	0.05255	0.03378218	0.03665	0.043009393	0.05254	-4.377	0.29625	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	0.913505	0.12881	9.391	0.80076898622141068	0.13034	0.38294	0.25956	N	AEFBI	0.076042	0.15287	N	-0.594700190155189	0.19104	0.9972882	-0.492499651672308	0.22359	1.214072	0.99830768287507	0.36726	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	4.65	0.57626	0.504000	0.22335	0.925000	0.22734	0.665000	0.62972	0.004000	0.16614	0.952000	0.29052	0.950000	0.49671	0.0:0.0834:0.0:0.9166	9.333	0.37194	395	0.83006	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2523.33	33	chr3	121692003	.	T	C	2523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-1.557;SOR=0.708	GT:AD:DP:GQ:PL	0/1:106,96:202:99:2537,0,2768	18	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3824	984.38	130	chr3	121697608	.	C	T	984.38	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.025;DP=2253;ExcessHet=13.8672;FS=218.138;InbreedingCoeff=-0.6104;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.975;SOR=12.96	GT:AD:DP:GQ:PL	0/1:52,27:95:99:121,0,1088	4	0	13	2
chr3	121699862	121699862	G	C	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon11:c.C1303G:p.L435V,GOLGB1:NM_001366283:exon11:c.C1420G:p.L474V,GOLGB1:NM_001366284:exon11:c.C1303G:p.L435V,GOLGB1:NM_001256486:exon12:c.C1543G:p.L515V,GOLGB1:NM_001256487:exon12:c.C1426G:p.L476V,GOLGB1:NM_001366282:exon12:c.C1543G:p.L515V,GOLGB1:NM_004487:exon12:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0113713261511	0.0009	0.000998403	0.0006	0.0002	0.0006	0	0.0008	0.0009	0	0	0.0006727	104	154602	rs138003912	0.0009	0.0009	0.0009	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	9.049e-05	0.0005	0.0024	0	0.0008	0	0.0010	0.0012	0	0.0006	0.0006	0.0007	0.0006	0.0009	0.0005	0.0005	0.0007	0.0007	0.0002	0	0.0008	0.0032	0	0.0004	0	0.0009	0.0005	0	0.041	0.41915	D	0.67	0.06305	T	0.948	0.53620	P	0.475	0.46927	P	0.310854	0.14436	N	0.639587	0.900289	0.27714	N	2.215	0.62545	M	2.46	0.23884	T	-0.83	0.25551	N	0.3	0.36464	-1.0586	0.12108	T	0.041	0.17573	T	10	0.011124253	0.00244	T	0.011371	0.28926	T	0.100	0.28662	.	.	0.48748946032	0.48381	0.08020059054051669	0.07955	0.373947390385	0.38853	0.314472615719	0.12584	T	0.016853	0.13851	T	-0.484808	0.00694	T	-0.474718	0.25010	T	0.0466383672391458	0.04900	T	0.857714	0.56740	D	0.04190374	0.06258	0.050656777	0.07996	0.04190374	0.06257	0.050656777	0.07995	-3.807	0.22393	T	.	.	0.069	0.03372	B	.;.;.;.	.;.;.;.	1.588612	0.20324	14.69	0.98139469999248707	0.38588	0.87647	0.47256	D	AEFBI	0.100141	0.20143	N	-0.302606735223563	0.29050	1.607505	-0.349123694849623	0.26535	1.466373	0.0844810700885953	0.15956	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.72	0.988	0.18914	1.336000	0.33455	0.961000	0.22991	-0.746000	0.03629	1.000000	0.71638	0.994000	0.32194	0.429000	0.27427	0.4266:0.0:0.5734:0.0	7.677	0.27659	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1419.33	35	chr3	121699862	.	G	C	1419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.159;DP=747;ExcessHet=0;FS=1.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.702;SOR=0.54	GT:AD:DP:GQ:PL	0/1:60,59:119:99:1433,0,1522	18	0	1	0
chr3	124719237	124719237	G	A	exonic	KALRN	.	nonsynonymous SNV	KALRN:NM_001322993:exon27:c.G3634A:p.A1212T,KALRN:NM_007064:exon27:c.G3637A:p.A1213T,KALRN:NM_001024660:exon60:c.G8728A:p.A2910T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00894019798539	7.7e-05	.	2.472e-05	0	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs146977122	2.121e-05	2.121e-05	2.178e-05	2.063e-05	0.0005	1.52e-05	1.324e-05	0.0001	7.541e-05	0	0	0	0	0	0.0005	2.158e-05	4.967e-05	1.159e-05	6.569e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.552	0.06543	T	0.57	0.19480	T	.	.	.	.	.	.	0.000007	0.62929	D	0.063050	0.549518	0.32529	D	.	.	.	-0.13	0.64818	T	-1.24	0.38151	N	0.161	0.16864	-0.9254	0.44801	T	0.113	0.40377	T	10	0.15567157	0.29335	T	0.00894	0.23559	T	0.111	0.31313	.	.	0.446291797366	0.44249	.	.	.	.	0.670887410641	0.62964	T	0.014192	0.12131	T	-0.12372	0.32517	T	-0.351846	0.38993	T	0.362778782844543	0.27518	T	0.741226	0.36463	T	.	.	.	.	.	.	.	.	-4.559	0.31652	T	.	.	0.271	0.51227	B	.;.	.;.	4.141395	0.62054	24.4	0.98903936096978895	0.48235	0.98057	0.79234	D	AEFGBI	0.934508	0.92799	D	0.34478214473721	0.58463	4.01885	0.466104819902493	0.65756	4.864372	0.99999992925987	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.52	4.57	0.55860	6.857000	0.75254	8.393000	0.77090	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.078:0.0:0.922:0.0	14.941	0.70643	761	0.50382	Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2250.33	34	chr3	124719237	.	G	A	2250.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.536;DP=808;ExcessHet=0;FS=3.435;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.499;SOR=0.793	GT:AD:DP:GQ:PL	0/1:90,87:177:99:2264,0,2465	18	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2855.05	66	chr3	128055734	.	T	C	2855.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.098;DP=1413;ExcessHet=25.4433;FS=109.351;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.13;SOR=11.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,16:80:47:.:.:47,0,1409:.	3	0	16	0
chr3	129476757	129476757	G	A	exonic	IFT122	.	nonsynonymous SNV	IFT122:NM_052990:exon8:c.G770A:p.S257N,IFT122:NM_001280546:exon9:c.G476A:p.S159N,IFT122:NM_018262:exon10:c.G926A:p.S309N,IFT122:NM_001280541:exon11:c.G1079A:p.S360N,IFT122:NM_052989:exon11:c.G1103A:p.S368N,IFT122:NM_001280545:exon12:c.G653A:p.S218N,IFT122:NM_052985:exon12:c.G1256A:p.S419N	Cranioectodermal dysplasia 1, Autosomal recessive	0	1503	17	2	0	21	0.00693756	.	.	.	191289	Connective_tissue_disorder|not_specified|not_provided|Cranioectodermal_dysplasia_1|Rod-cone_dystrophy	MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330,Orphanet:1515|Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.104	.	0.0012	0.00559105	0.0032	0.0003	0.0003	0.0139	0.0003	0.0016	0	0.0092	0.0030207	467	154602	rs150550701	0.0022	0.0022	0.0019	0.0024	0.0087	0.0021	0.0021	0.0082	0.0080	0.0003	0.0006	0.0001	0.0084	0.0003	0.0012	0.0017	0.0020	0.0087	0.0016	0.0016	0.0013	0.0019	0.0141	0.0015	0.0014	0.0115	0.0105	0.0002	0	0.0003	0	0.0141	0.0002	0	0.0017	0.0014	0.0083	1.0	0.00964	T	1.0	0.01155	T	0.001	0.12996	B	0.003	0.10090	B	0.000000	0.84330	D	0.044612	0.999942	0.51968	D	-0.63	0.02141	N	0.44	0.59449	T	2.39	0.00694	N	0.251	0.39153	-1.0102	0.26854	T	0.048	0.20474	T	10	0.0068077445	0.00155	T	.	.	.	0.104	0.29647	.	.	0.627901115463	0.62486	0.21813654603121127	0.21729	0.197538282878	0.22128	0.774731636047	0.78133	T	0.109141	0.42277	T	-0.554756	0.00273	T	-0.557969	0.16568	T	0.0168030649433126	0.00435	T	0.746025	0.45053	T	0.18376361	0.39659	0.12710655	0.30603	0.18210562	0.39413	0.15228488	0.35834	-4.035	0.35088	T	0.0331516724954932	0.00137	0.125	0.32445	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.637585	0.34311	19.59	0.20858519992147853	0.00769	0.91270	0.53196	D	AEFBI	0.350599	0.44399	N	-0.428437218003848	0.24476	1.321901	-0.140962237781974	0.33758	1.93443	0.998653122759032	0.37392	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.65	4.77	0.60425	2.768000	0.47329	5.016000	0.46707	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0724:0.0:0.9276:0.0	14.007	0.63984	496	0.76301	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002518	0.010101	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.05263	3938.83	33	chr3	129476757	.	G	A	3938.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.54;DP=937;ExcessHet=0.119;FS=0.4;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.114;SOR=0.736	GT:AD:DP:GQ:PL	0/1:83,82:165:99:2086,0,2199	17	0	2	0
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A,COL6A5:NM_153264:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	5712.42	63	chr3	130421335	.	G	C	5712.42	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,21:75:99:0|1:130421335_G_C:256,0,1818:130421335	9	0	7	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4062	6329.56	63	chr3	130421337	.	T	C	6329.56	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,28:77:99:0|1:130421335_G_C:567,0,905:130421335	3	0	13	3
chr3	131184732	131184732	A	G	exonic	NEK11	.	nonsynonymous SNV	NEK11:NM_001321223:exon14:c.A1430G:p.Y477C	.	443	1067	12	0	0	12	0.0055918	.	.	.	2824936	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.103	.	.	0.000998403	0.0054	0	0	0	0.0208	0.0075	0	0.0051	0.0009767	151	154602	rs180926777	0.0025	0.0026	0.0025	0.0026	0.0064	0.0025	0.0024	0.0046	0.0040	0.0002	0.0016	0.0009	0	0.0018	0.0064	0.0027	0.0029	0.0018	0.0024	0.0024	0.0028	0.0021	0.0045	0.0022	0.0022	0.0041	0.0040	0.0004	0	0.0012	0	0	0.0008	0.0034	0.0045	0.0033	0.0029	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	-0.57	0.71307	T	-1.39	0.34397	N	0.251	0.28381	-0.9322	0.43814	T	0.176	0.52021	T	8	0.0051582754	0.00112	T	.	.	.	0.103	0.29403	.	.	0.0806252709748	0.07271	.	.	.	.	.	.	.	.	.	.	-0.505252	0.00534	T	-0.495089	0.22859	T	0.01677787154233	0.00433	T	0.530047	0.17581	T	.	.	.	.	.	.	.	.	-3.461	0.15890	T	.	.	0.085	0.10014	B	.	.	0.014632	0.04385	1.133	0.96811363837201414	0.31187	0.01198	0.04275	N	AEFBI	0.046139	0.07627	N	-1.09320624012412	0.06767	0.3124868	-1.22577292787335	0.05499	0.262161	9.03701400337986E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.39	-1.61	0.07951	-0.472000	0.06702	-0.163000	0.11303	0.504000	0.22967	0.000000	0.06391	0.000000	0.08366	0.188000	0.21541	0.3825:0.2549:0.3626:0.0	2.974	0.05571	699	0.57969	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	1325.33	34	chr3	131184732	.	A	G	1325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.13;DP=743;ExcessHet=0;FS=1.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-0.524;SOR=0.512	GT:AD:DP:GQ:PL	0/1:38,54:92:99:1339,0,828	18	0	1	0
chr3	132601191	132601191	T	C	exonic	ACKR4	.	nonsynonymous SNV	ACKR4:NM_178445:exon1:c.T794C:p.I265T,ACKR4:NM_016557:exon2:c.T794C:p.I265T	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0162901373016	0.0026	.	0.0024	0.0012	0.0012	0.0003	0.0024	0.0031	0.0011	0.0024	0.0003074	8	26028	rs145975679	0.0034	0.0034	0.0034	0.0033	0.0038	0.0033	0.0032	0.0037	0.0037	0.0004	0.0016	0.0015	7.56e-05	0.0030	0.0009	0.0038	0.0030	0.0026	0.0023	0.0023	0.0023	0.0022	0.0035	0.0021	0.0020	0.0029	0.0028	0.0012	0.0011	0.0011	0.0014	0.0002	0.0024	0.0034	0.0033	0.0019	0.0035	0.337	0.12837	T	0.097	0.39190	T	0.351	0.33667	B	0.197	0.36707	B	0.000231	0.47286	D	0.241583	1	0.81001	D	1.575	0.39704	L	1.14	0.38397	T	-2.33	0.51646	N	0.347	0.38848	-1.0917	0.05254	T	0.063	0.26136	T	10	0.015879035	0.00334	T	0.01629	0.37474	T	0.171	0.43483	.	.	0.566480848757	0.56312	0.3048211868356733	0.30395	.	.	0.411705493927	0.26693	T	0.080811	0.36453	T	-0.418002	0.01762	T	-0.375628	0.36232	T	0.017670769943331	0.00499	T	0.884412	0.60756	D	0.13303593	0.30958	0.14656669	0.34719	0.13303593	0.30957	0.14656669	0.34718	-4.083	0.25039	T	.	.	0.161	0.35519	B	.	.	3.890665	0.56604	23.8	0.98571271472234245	0.43115	0.99283	0.93924	D	AEFGI	0.829490	0.74839	D	-0.18745308337415	0.33655	1.911929	-0.0319963128446853	0.38279	2.252939	0.999999975425141	0.74766	0.554377	0.28877	0	0.54472	0.11627	0	0.670488	0.60580	0	0.567892	0.33627	0	.	.	5.42	4.24	0.49486	4.805000	0.62253	7.946000	0.75701	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1329:0.0:0.0:0.8671	11.676	0.50694	831	0.39019	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	0.001832	0.000000	0.000000	0.000000	0.000000	0.008772	0.000000	0.008333	0.02632	3026.33	33	chr3	132601191	.	T	C	3026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.557;DP=859;ExcessHet=0;FS=1.047;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.82;MQRankSum=-0.716;QD=13.69;ReadPosRankSum=-0.408;SOR=0.618	GT:AD:DP:GQ:PL	0/1:100,121:221:99:3040,0,2507	18	0	1	0
chr3	138223423	138223423	A	G	exonic	ARMC8	.	nonsynonymous SNV	ARMC8:NM_001282342:exon3:c.A103G:p.T35A,ARMC8:NM_001267041:exon4:c.A229G:p.T77A,ARMC8:NM_001267042:exon4:c.A229G:p.T77A,ARMC8:NM_001363941:exon4:c.A229G:p.T77A,ARMC8:NM_001363942:exon4:c.A103G:p.T35A,ARMC8:NM_014154:exon5:c.A187G:p.T63A,ARMC8:NM_015396:exon5:c.A187G:p.T63A,ARMC8:NM_213654:exon5:c.A187G:p.T63A	.	437	1058	26	1	0	28	0.0130597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0020	0.00379393	0.0028	0.0003	0.0023	0	0.0003	0.0022	0.0011	0.0098	0.0026714	413	154602	rs146088572	0.0023	0.0023	0.0021	0.0026	0.0116	0.0023	0.0022	0.0094	0.0092	0.0004	0.0030	0.0009	0	0.0001	0.0116	0.0019	0.0029	0.0099	0.0019	0.0019	0.0017	0.0021	0.0116	0.0017	0.0017	0.0092	0.0083	0.0005	0.0022	0.0033	0.0003	0	0.0003	0.0136	0.0022	0.0028	0.0116	0.514	0.07449	T	0.614	0.22962	T	0.012	0.17989	B	0.014	0.20792	B	0.000295	0.46274	D	0.232973	0.988438	0.40763	D	0	0.06538	N	1.36	0.34452	T	-1.12	0.30555	N	0.258	0.30574	-1.0731	0.08745	T	0.038	0.16462	T	10	0.007252604	0.00165	T	.	.	.	0.019	0.03383	.	.	0.196089822672	0.19227	0.15376029250558546	0.15298	0.642605149853	0.57820	0.557981133461	0.46983	T	0.040801	0.25649	T	-0.530853	0.00380	T	-0.528061	0.19480	T	0.0257044843958931	0.01366	T	0.832517	0.50622	T	0.058245815	0.11693	0.07300166	0.15813	0.058245815	0.11693	0.07300166	0.15812	-4.419	0.38190	T	.	.	0.062	0.01762	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.555694	0.33087	19.24	0.94680712454225624	0.25314	0.90946	0.52562	D	AEFGBI	0.245310	0.36627	N	-0.201161614229716	0.33086	1.873	0.0454931421428507	0.41854	2.521533	0.999996554470424	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	2.417000	0.44307	11.243000	0.90488	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.268	0.65679	435	0.80441	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.012228	0.008772	0.000000	0.000000	0.012195	0.018939	0.05263	1840.83	36	chr3	138223423	.	A	G	1840.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.796;DP=761;ExcessHet=0.119;FS=8.863;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.811;SOR=0.293	GT:AD:DP:GQ:PL	0/1:43,34:77:99:776,0,1346	17	0	2	0
chr3	149140447	149140447	G	C	exonic	HPS3	.	nonsynonymous SNV	HPS3:NM_032383:exon2:c.G661C:p.V221L	Hermansky-Pudlak syndrome 3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.025739431246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.209	0.26798	T	0.079	0.24468	B	0.028	0.21332	B	0.291479	0.14761	N	0.635484	1	0.08975	N	1.495	0.37439	L	-0.02	0.62918	T	-0.49	0.15578	N	0.235	0.26475	-0.9940	0.31565	T	0.154	0.48412	T	10	0.08933401	0.15465	T	0.025739	0.48694	D	0.031	0.07369	0.24	0.17218	0.609694075345	0.60655	0.2119832897861091	0.21114	0.524358026389	0.50121	0.327225655317	0.14515	T	0.093969	0.39320	T	-0.231716	0.16421	T	-0.570621	0.15393	T	0.0895576784528686	0.11166	T	0.751925	0.37414	T	0.03419477	0.03792	0.046344537	0.06438	0.03419477	0.03791	0.046344537	0.06438	-3.021	0.10409	T	0.15839746414402936	0.19190	0.091	0.13080	B	.	.	1.144967	0.15324	11.76	0.95015166124385597	0.25991	0.18357	0.20227	N	AEFGBI	0.095109	0.19220	N	-0.944638851462693	0.09814	0.4661255	-0.950657822332143	0.10908	0.55243	0.934558233653688	0.27176	0.706298	0.61202	0	0.80507	0.99744	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	1.54	0.22290	0.907000	0.28154	1.414000	0.26305	-0.106000	0.15538	0.121000	0.23193	0.667000	0.26046	0.891000	0.42908	0.2675:0.1163:0.6162:0.0	7.592	0.27197	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	538.67	73	chr3	149140447	.	G	C	538.67	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2.872;DP=1351;ExcessHet=0.3672;FS=95.1;InbreedingCoeff=-0.1015;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=1.9;SOR=9.117	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,28:97:99:0|1:149140447_G_C:404,0,1380:149140447	16	0	2	1
chr3	149527888	149527888	T	A	exonic	WWTR1	.	nonsynonymous SNV	WWTR1:NM_001168280:exon5:c.A853T:p.T285S,WWTR1:NM_015472:exon5:c.A853T:p.T285S,WWTR1:NM_001168278:exon6:c.A853T:p.T285S,WWTR1:NM_001348362:exon8:c.A853T:p.T285S	.	427	1016	74	5	0	84	0.0396975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	0.0048	0.0195687	0.0145	0.0044	0.0047	0.0013	0.0020	0.0079	0.0088	0.0668	0.0130529	2018	154602	rs28763914	0.0095	0.0095	0.0078	0.0113	0.0648	0.0094	0.0093	0.0633	0.0628	0.0043	0.0057	0.0320	0.0009	0.0018	0.0288	0.0055	0.0118	0.0648	0.0082	0.0083	0.0070	0.0095	0.0685	0.0079	0.0077	0.0624	0.0600	0.0045	0	0.0105	0.0334	0.0012	0.0009	0.0340	0.0061	0.0099	0.0685	1.0	0.00964	T	1.0	0.03945	T	0.0	0.02946	B	0.001	0.04355	B	0.189626	0.16881	N	0.622461	0.945773	0.26651	N	0.405	0.12330	N	1.05	0.39990	T	0.6	0.02853	N	0.277	0.32481	-1.0210	0.23389	T	0.025	0.10866	T	10	0.0015960932	0.00018	T	.	.	.	0.114	0.32008	0.065	0.00293	.	.	0.290718380610075	0.28984	0.42995996695	0.43261	0.481068134308	0.36204	T	0.214331	0.57588	T	-0.644689	0.00078	T	-0.650148	0.08944	T	0.0179148183194432	0.00518	T	0.476852	0.14330	T	0.07942054	0.18144	0.04499123	0.05953	0.07942054	0.18143	0.04499123	0.05953	-4.436	0.30042	T	0.1702844105836142	0.21400	0.074	0.10545	B	.;.;.;.	.;.;.;.	2.307038	0.29529	18.15	0.87434686040373133	0.17225	0.89995	0.50835	D	ALL	0.790365	0.71928	D	-0.400604213907978	0.25447	1.381	-0.180672069225818	0.32247	1.832765	0.999999999898381	0.74766	0.758104	0.99027	0	0.588066	0.40923	0	0.691618	0.62860	0	0.648885	0.59868	0	.	.	5.09	3.92	0.44525	2.685000	0.46626	3.438000	0.38361	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0762:0.1435:0.7804	7.488	0.26617	695	0.58372	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.000000	0.012228	0.029240	0.000000	0.000000	0.015244	0.041667	0.05263	1029.83	34	chr3	149527888	.	T	A	1029.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.702;DP=701;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=1.21;SOR=0.638	GT:AD:DP:GQ:PL	0/1:37,24:61:99:471,0,929	17	0	2	0
chr3	150411052	150411052	G	T	exonic	TSC22D2	.	nonsynonymous SNV	TSC22D2:NM_001303264:exon1:c.G1702T:p.A568S,TSC22D2:NM_014779:exon1:c.G1702T:p.A568S	.	428	1091	3	0	0	3	0.001373	.	.	.	2473312	Keratoconus	Human_Phenotype_Ontology:HP:0000563,MONDO:MONDO:0015486,MeSH:D007640,MedGen:C0022578,OMIM:PS148300	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0104317837359	0.0012	0.000399361	0.0014	0.0006	0.0007	0	0.0002	0.0023	0.0022	0.0002	0.001423	220	154602	rs151080920	0.0019	0.0019	0.0019	0.0018	0.0022	0.0018	0.0018	0.0022	0.0021	0.0004	0.0007	0.0031	0	0.0003	0.0005	0.0022	0.0014	0.0002	0.0012	0.0012	0.0012	0.0011	0.0021	0.0010	0.0010	0.0018	0.0017	0.0004	0	0.0003	0.0023	0	0	0	0.0021	0.0014	0.0002	0.009	0.57480	D	0.395	0.15255	T	0.958	0.54977	D	0.518	0.48133	P	0.045921	0.23488	N	0.289980	1	0.08975	N	1.61	0.41143	L	1.39	0.33842	T	-1.14	0.29323	N	0.204	0.22614	-1.0054	0.28337	T	0.102	0.37768	T	10	0.010551751	0.00234	T	0.010432	0.26958	T	0.074	0.21613	.	.	0.0675242888579	0.06100	0.24174690199234644	0.24088	.	.	0.352105677128	0.18232	T	0.00632	0.05755	T	-0.484546	0.00696	T	-0.474341	0.25049	T	0.0261150068513846	0.01421	T	0.807619	0.45757	T	0.12007663	0.28263	0.09104731	0.21385	0.12007663	0.28262	0.09104731	0.21384	-4.782	0.34380	T	.	.	0.075	0.05535	B	.	.	2.387288	0.30655	18.50	0.99600792960974316	0.74219	0.44275	0.27282	N	ALL	0.596434	0.59060	D	0.131265044272749	0.47926	3.011554	0.204734598577668	0.50110	3.206511	0.999999999997388	0.74766	0.789315	0.99827	0	0.504199	0.08210	0	0.768056	0.98339	0	0.56214	0.19341	0	.	.	4.5	4.5	0.54382	1.939000	0.39841	9.425000	0.80773	-0.119000	0.14319	0.013000	0.18845	1.000000	0.68203	0.637000	0.32341	0.0:0.0:1.0:0.0	16.831	0.85808	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3082.33	49	chr3	150411052	.	G	T	3082.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.58;DP=1203;ExcessHet=0;FS=2.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.556;SOR=0.531	GT:AD:DP:GQ:PL	0/1:145,118:263:99:3096,0,3493	18	0	1	0
chr3	150666831	150666831	C	A	exonic	ERICH6	.	nonsynonymous SNV	ERICH6:NM_001308234:exon13:c.G1246T:p.A416S,ERICH6:NM_152394:exon13:c.G1684T:p.A562S	.	.	.	.	.	.	.	.	.	.	.	3668326	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.00590066931616	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs770279340	3.01e-05	3.01e-05	2.314e-05	3.713e-05	3.777e-05	2.282e-05	2.032e-05	2.828e-05	2.507e-05	0	0	0	0	0	0	3.777e-05	3.312e-05	0	1.314e-05	1.313e-05	0	2.691e-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	0.184	0.24955	T	0.148	0.33219	T	0.998	0.73220	D	0.934	0.66904	D	0.000007	0.62929	D	0.000000	0.942112	0.37359	D	2.26	0.64354	M	2.7	0.12162	T	-1.49	0.39119	N	0.402	0.44283	-1.1304	0.01763	T	0.069	0.28379	T	10	0.25123358	0.42460	T	0.005901	0.15371	T	0.116	0.32463	0.334	0.32167	0.195762928549	0.19159	0.29541956389722807	0.29454	0.529981694492	0.50551	0.514487683773	0.40851	T	0.033037	0.22746	T	-0.197092	0.21225	T	-0.520885	0.20204	T	0.928105592727661	0.59135	D	0.770023	0.39993	T	0.18192247	0.39385	0.15890042	0.37084	0.18192247	0.39385	0.15890042	0.37084	-5.471	0.41596	T	.	.	0.251	0.48572	B	.;.	.;.	4.373544	0.67350	25.1	0.99755824795104919	0.84615	0.85480	0.44616	D	AEFBI	0.431097	0.49353	N	0.596449647123223	0.72951	5.887514	0.605295479030849	0.75324	6.290373	0.990166614599036	0.32060	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.41	5.41	0.78313	3.593000	0.53747	7.640000	0.63152	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1615:0.8385:0.0:0.0	13.013	0.58145	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	873.33	35	chr3	150666831	.	C	A	873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=661;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=1.6;SOR=0.595	GT:AD:DP:GQ:PL	0/1:21,30:51:99:887,0,514	18	0	1	0
chr3	155115078	155115078	G	A	exonic	MME	.	nonsynonymous SNV	MME:NM_000902:exon4:c.G281A:p.R94H,MME:NM_001354642:exon4:c.G281A:p.R94H,MME:NM_001354643:exon4:c.G281A:p.R94H,MME:NM_007287:exon4:c.G281A:p.R94H,MME:NM_007288:exon4:c.G281A:p.R94H,MME:NM_007289:exon4:c.G281A:p.R94H	Charcot-Marie-Tooth disease, axonal, type 2T, Autosomal recessive, Autosomal dominant	429	1091	2	0	0	2	0.000915751	.	.	.	1494879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.367	0.0392022550628	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.29e-05	2	154602	rs201870091	8.209e-06	8.209e-06	8.168e-06	8.251e-06	6.709e-05	4.38e-06	3.46e-06	1.779e-05	8.93e-06	0	6.709e-05	0	0	0	0	5.396e-06	3.312e-05	1.159e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.324	0.25768	T	0.242	0.34959	T	0.007	0.14184	B	0.006	0.12133	B	0.000116	0.50451	N	0.174911	0.946072	0.37513	D	1.59	0.40313	L	-0.83	0.74159	T	-2.35	0.58248	N	0.232	0.29774	-0.7853	0.56002	T	0.244	0.61319	T	10	0.20761222	0.37063	T	0.039202	0.58675	D	0.367	0.68670	0.532	0.64002	0.707016183132	0.70446	0.41189108995617035	0.41105	0.0767748290938	0.08620	0.340968877077	0.16584	T	0.493205	0.81685	T	-0.00332605	0.51196	T	-0.1457	0.59622	T	0.212274342775345	0.21072	T	0.90121	0.71149	D	0.28747907	0.51758	0.18285663	0.41239	0.28747907	0.51758	0.18285663	0.41238	-6.928	0.53507	T	0.20841513037705736	0.27878	0.102	0.31228	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.658242	0.34622	19.68	0.98433566760580526	0.41431	0.73398	0.35904	D	AEFBCI	0.302771	0.41093	N	-0.457567926898789	0.23484	1.261466	-0.308448353479505	0.27824	1.546766	0.96688775514933	0.28936	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.46	3.68	0.41359	1.786000	0.38326	2.644000	0.33772	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.2966:0.0:0.7034:0.0	8.330	0.31339	822	0.40702	Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1210.33	35	chr3	155115078	.	G	A	1210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.819;DP=706;ExcessHet=0;FS=5.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=0.166;SOR=0.85	GT:AD:DP:GQ:PL	0/1:33,47:80:99:1224,0,756	18	0	1	0
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C,VEPH1:NM_001167912:exon7:c.C1016G:p.S339C,VEPH1:NM_024621:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2692	7167.82	34	chr3	157381267	.	G	C	7167.82	.	AC=7;AF=0.269;AN=26;BaseQRankSum=-5.676;DP=3389;ExcessHet=2.9153;FS=97.701;InbreedingCoeff=-0.3571;MLEAC=9;MLEAF=0.346;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=1.58;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,40:249:99:0|1:157381266_G_C:969,0,8553:157381266	6	0	7	6
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L,VEPH1:NM_001167912:exon7:c.C1014G:p.F338L,VEPH1:NM_024621:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	7212.82	34	chr3	157381269	.	G	C	7212.82	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-7.275;DP=3440;ExcessHet=2.9153;FS=99.936;InbreedingCoeff=-0.2881;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.39;ReadPosRankSum=1.67;SOR=11.347	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,40:249:99:0|1:157381266_G_C:969,0,8594:157381266	9	0	7	3
chr3	157381272	157381276	GGTGT	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1007_1011del:p.D336Vfs*24,VEPH1:NM_001167912:exon7:c.1007_1011del:p.D336Vfs*24,VEPH1:NM_024621:exon7:c.1007_1011del:p.D336Vfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	5885.78	34	chr3	157381271	.	AGGTGT	A	5885.78	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.455;DP=3692;ExcessHet=2.0135;FS=95.914;InbreedingCoeff=-0.1875;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=1.27;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,42:253:99:0|1:157381266_G_C:1012,0,8667:157381266	15	0	4	0
chr3	157381272	157381272	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	1091.63	209	chr3	157381272	.	G	*	1091.63	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-2.892;DP=3520;ExcessHet=2.9153;FS=103.783;InbreedingCoeff=-0.418;MLEAC=8;MLEAF=0.364;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.932;SOR=11.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,42:253:99:0|1:157381266_G_C:1012,0,8667:157381266	5	0	6	8
chr3	157381273	157381273	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1096.8	48	chr3	157381273	.	G	*	1096.8	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-5.988;DP=3340;ExcessHet=1.3;FS=103.783;InbreedingCoeff=-0.2903;MLEAC=5;MLEAF=0.208;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.08;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,42:253:99:0|1:157381266_G_C:1012,0,8667:157381266	8	0	4	7
chr3	157381275	157381275	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	1702.6	48	chr3	157381275	.	G	*	1702.6	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-1.075;DP=3134;ExcessHet=2.9153;FS=96.253;InbreedingCoeff=-0.2905;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.952;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,42:253:99:0|1:157381266_G_C:1012,0,8667:157381266	13	0	4	2
chr3	157381276	157381276	-	CCCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1006_1007insGGGGG:p.D336Gfs*19,VEPH1:NM_001167912:exon7:c.1006_1007insGGGGG:p.D336Gfs*19,VEPH1:NM_024621:exon7:c.1006_1007insGGGGG:p.D336Gfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	3348.89	48	chr3	157381276	.	T	TCCCCC	3348.89	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.683;DP=1968;ExcessHet=0.7564;FS=96.049;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.65;ReadPosRankSum=1.12;SOR=10.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,42:247:99:0|1:157381266_G_C:1030,0,8432:157381266	14	0	4	1
chr3	158122165	158122165	C	T	exonic	RSRC1	.	nonsynonymous SNV	RSRC1:NM_001271834:exon2:c.C61T:p.R21C,RSRC1:NM_001271838:exon2:c.C61T:p.R21C,RSRC1:NM_016625:exon2:c.C61T:p.R21C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.00889814725774	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs148955979	5.541e-06	6.156e-06	4.135e-06	6.961e-06	3.101e-05	2.38e-06	1.72e-06	1.96e-06	1.29e-06	3.101e-05	0	0	0	0	0	5.442e-06	0	1.189e-05	6.577e-06	6.569e-06	0	1.347e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.045	0.53426	D	0.997	0.73220	D	0.656	0.55619	P	0.000000	0.84330	D	0.050905	0.999993	0.58761	D	1.32	0.33002	L	.	.	.	-2.73	0.83489	D	0.562	0.63968	-0.4964	0.68780	T	0.279	0.65048	T	9	0.42948604	0.57395	T	0.008898	0.23463	T	0.294	0.61388	.	.	0.691819975625	0.68917	0.36268330038705143	0.36182	0.101183211326	0.11438	0.83138012886	0.86773	D	0.209965	0.57032	T	0.0272289	0.55354	T	-0.198664	0.54773	T	0.925737142562866	0.58762	D	0.790621	0.45053	T	0.4667982	0.65093	0.29942426	0.55976	0.4667982	0.65094	0.29942426	0.55975	-11.409	0.85569	D	.	.	0.405	0.62460	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.955722	0.57980	23.9	0.98248009963681104	0.39548	0.91871	0.54443	D	AEFGBI	0.369266	0.45606	N	0.22450485535523	0.52389	3.41336	0.149672513791695	0.47125	2.94746	0.393575259421834	0.20068	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.66	3.83	0.43287	3.078000	0.49794	3.257000	0.37065	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.785000	0.37106	0.2629:0.7371:0.0:0.0	14.760	0.69220	521	0.74284	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	476.33	27	chr3	158122165	.	C	T	476.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.623;DP=586;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=1.4;SOR=0.714	GT:AD:DP:GQ:PL	0/1:17,20:37:99:490,0,388	18	0	1	0
chr3	160404347	160404347	T	C	exonic	SMC4	.	nonsynonymous SNV	SMC4:NM_005496:exon4:c.T530C:p.V177A,SMC4:NM_001002800:exon5:c.T530C:p.V177A,SMC4:NM_001288753:exon5:c.T455C:p.V152A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0229069441454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0054	0.0001	0.0001	0.0001	9.927e-05	9.386e-05	0.0001	0.0001	9.415e-05	0	3.915e-05	7.617e-05	0	0	0.0001	8.551e-05	2.42e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.032	0.54934	D	0.992	0.64738	D	0.91	0.64641	D	0.000001	0.62929	D	0.056395	1	0.81001	D	2.34	0.67151	M	2.91	0.55945	T	-3.7	0.71157	D	0.795	0.79214	-0.4533	0.70291	T	0.329	0.69682	T	9	0.70917594	0.72932	D	0.022907	0.45838	T	0.278	0.59497	0.521	0.62368	0.709883084589	0.70734	0.460518375338523	0.45969	0.58308373772	0.54039	0.600413441658	0.52963	T	0.47436	0.80584	T	0.112874	0.65647	D	-0.0756403	0.65220	T	0.978100121021271	0.72158	D	0.926107	0.81930	D	0.41292104	0.61618	0.4092579	0.65219	0.41292104	0.61618	0.4092579	0.65219	-9.197	0.69057	D	.	.	0.198	0.63267	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.808997	0.78220	26.9	0.99886819405452432	0.96204	0.99167	0.92217	D	AEFDGBIJ	0.937139	0.93449	D	0.746699790061011	0.82689	7.825052	0.770386729956323	0.87669	9.303158	0.999999999999999	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.273489	0.05413	2	.	.	6.16	6.16	0.99302	7.982000	0.87742	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.806	0.85530	744	0.52588	RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;.;.;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	225.45	46	chr3	160404347	.	T	C	225.45	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.497;DP=1041;ExcessHet=0.7564;FS=160.418;InbreedingCoeff=-0.1181;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=1.42;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,12:66:99:0|1:160404346_G_C:105,0,1749:160404346	15	0	4	0
chr3	167576127	167576127	G	T	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001366158:exon5:c.C277A:p.H93N,WDR49:NM_001348951:exon8:c.C1300A:p.H434N,WDR49:NM_001348952:exon8:c.C1300A:p.H434N,WDR49:NM_001366157:exon8:c.C1300A:p.H434N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00829868597983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.12552	T	0.319	0.28958	T	0.004	0.29046	B	0.002	0.24256	B	0.103037	0.19766	N	0.547220	0.999907	0.19694	N	1.85	0.49092	L	1.76	0.26445	T	-2.57	0.55501	D	0.329	0.42931	-1.0314	0.20002	T	0.082	0.32353	T	10	0.18877351	0.34447	T	0.008299	0.21979	T	0.059	0.16972	0.465	0.53566	0.357929162469	0.35400	0.08260015198264475	0.08195	0.0315044383723	0.03265	0.608449459076	0.54097	T	0.005078	0.04516	T	-0.248986	0.14223	T	-0.595427	0.13198	T	0.205467686057091	0.20714	T	0.70043	0.31009	T	0.11414362	0.26949	0.0968497	0.23028	0.11414362	0.26949	0.0968497	0.23027	-6.15	0.47517	T	.	.	0.110	0.28976	B	.;.;.;.	.;.;.;.	2.530666	0.32720	19.13	0.82414214579683198	0.14179	0.88359	0.48251	D	AEFI	0.433741	0.49508	N	-0.0803626733758603	0.38255	2.237694	0.0115703199668488	0.40250	2.399218	0.0269578884704994	0.13744	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.76	3.98	0.45383	3.694000	0.54474	4.591000	0.43958	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.229:0.0:0.771:0.0	9.008	0.35286	829	0.39537	WD40-repeat-containing domain;.;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	161.33	33	chr3	167576127	.	G	T	161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.471;DP=707;ExcessHet=0;FS=34.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=0.186;SOR=5.433	GT:AD:DP:GQ:PL	0/1:53,20:73:99:175,0,1201	18	0	1	0
chr3	195579418	195579418	A	G	exonic	APOD	.	nonsynonymous SNV	APOD:NM_001647:exon2:c.T44C:p.F15S	.	407	1092	23	0	0	23	0.0104214	.	.	.	697996	not_provided|APOD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.191	0.0106765433329	0.0046	0.00139776	0.0042	0.0008	0.0042	0	0.0083	0.0058	0.0056	0.0005	0.0040556	627	154602	rs5952	0.0047	0.0047	0.0048	0.0046	0.0071	0.0046	0.0045	0.0054	0.0051	0.0007	0.0046	0.0007	0	0.0071	0.0071	0.0052	0.0044	0.0007	0.0042	0.0042	0.0040	0.0044	0.0063	0.0039	0.0038	0.0053	0.0051	0.0011	0.0044	0.0063	0.0020	0	0.0068	0.0102	0.0058	0.0066	0.0012	0.004	0.72154	D	0.248	0.23845	T	0.002	0.09854	B	0.002	0.06944	B	0.391946	0.13243	N	0.701798	1	0.08975	N	1.5	0.37844	L	2.03	0.20959	T	-1.66	0.44852	N	0.312	0.35194	-1.0289	0.20811	T	0.027	0.11707	T	10	0.0046077073	0.00096	T	0.010677	0.27493	T	0.191	0.46948	.	.	0.332386209738	0.32853	0.39952335144674217	0.39867	0.231353726995	0.25683	0.335872769356	0.15819	T	0.143503	0.47964	T	-0.392143	0.02606	T	-0.333867	0.41038	T	0.0362776724728635	0.03028	T	0.433257	0.15733	T	0.14031689	0.32379	0.15112346	0.35612	0.14031689	0.32378	0.15112346	0.35611	-4.849	0.35157	T	.	.	0.103	0.26978	B	.;.;.	.;.;.	1.724349	0.21947	15.42	0.96601951292706412	0.30409	0.04721	0.10415	N	AEFDBI	0.089882	0.18217	N	-0.778734682236333	0.13865	0.6862076	-0.791428063803516	0.14705	0.7697434	0.111814176163366	0.16668	0.623552	0.39893	0	0.610034	0.51514	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.68	1.61	0.22752	2.306000	0.43333	5.925000	0.51226	0.756000	0.94297	0.488000	0.26863	1.000000	0.68203	0.014000	0.10232	0.7035:0.0:0.2965:0.0	7.376	0.26004	835	0.38313	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.006793	0.002924	0.000000	0.000000	0.015244	0.003788	0.02632	781.33	33	chr3	195579418	.	A	G	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.709;DP=692;ExcessHet=0;FS=0.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-1.284;SOR=0.609	GT:AD:DP:GQ:PL	0/1:33,31:64:99:795,0,911	18	0	1	0
chr3	195778978	195778978	G	0	exonic	MUC4	.	.	.	.	430	961	15	0	116	131	0.00774393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	253.72	626	chr3	195778978	.	G	*	253.72	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-0.682;DP=7656;ExcessHet=3.6146;FS=2.774;InbreedingCoeff=-0.1186;MLEAC=7;MLEAF=0.233;MQ=53.86;MQRankSum=-4.516;QD=0.06;ReadPosRankSum=2.17;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:527,188:715:99:0|1:195778940_TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC_T:5010,0,20762:195778940	9	0	6	4
chr3	195779001	195779001	A	0	exonic	MUC4	.	.	.	.	424	967	14	0	117	131	0.00718686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	171.08	626	chr3	195779001	.	A	*	171.08	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.189;DP=6930;ExcessHet=1.0667;FS=3.257;InbreedingCoeff=0.0952;MLEAC=4;MLEAF=0.167;MQ=51.13;MQRankSum=-4.391;QD=0.07;ReadPosRankSum=-1.285;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:527,188:715:99:0|1:195778940_TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC_T:5010,0,20762:195778940	9	0	3	7
chr3	195779003	195779003	G	0	exonic	MUC4	.	.	.	.	416	975	14	0	117	131	0.00712831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	179.08	626	chr3	195779003	.	G	*	179.08	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.922;DP=6923;ExcessHet=1.0667;FS=2.275;InbreedingCoeff=0.0952;MLEAC=4;MLEAF=0.167;MQ=51.13;MQRankSum=-4.332;QD=0.07;ReadPosRankSum=-1.613;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:527,188:715:99:0|1:195778940_TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC_T:5010,0,20762:195778940	9	0	3	7
chr3	195779374	195779374	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12206T:p.S4069I	.	684	807	3	3	25	34	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00299521	0.0003	0.0015	0	0.0119	0	0.0002	0	0	0.0184801	481	26028	rs150394536	0.0009	0.0027	0.0008	0.0009	0.0072	0.0008	0.0008	0.0061	0.0057	0.0004	0.0022	0.0025	0.0072	0.0010	0	0.0005	0.0013	0.0019	0.0003	0.0061	0.0002	0.0004	0.0011	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0003	0.0009	0	0.0006	0	0.0004	0	0.0011	0.002	0.72154	D	0.056	0.46862	T	.	.	.	.	.	.	.	.	.	.	0.997681	0.58761	P	.	.	.	0.95	0.51474	T	-0.92	0.24676	N	0.054	0.03841	-0.9961	0.31001	T	0.000	0.00011	T	6	0.0044411123	0.00091	T	.	.	.	0.014	0.01968	.	.	0.0806252709748	0.07271	0.003929468286863758	0.00367	.	.	0.550907731056	0.45985	T	.	.	.	-0.721069	0.00027	T	-0.664722	0.07951	T	0.00241374731233886	0.00025	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.26855	B	.;.	.;.	1.302655	0.17048	12.93	0.9065680457689167	0.19908	0.00254	0.01397	N	AEFBI	0.066007	0.12904	N	-1.23915372028269	0.04444	0.2005883	-1.34796285310444	0.03830	0.1794608	1.1905244374725E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-3.401000	0.00537	-5.477000	0.01704	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4478:0.552:1.0E-4:1.0E-4	3.451	0.07067	601	0.67921	.;.	.	.	.	.	rs150394536	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.226733	0.414474	0.162338	0.192857	0.500000	0.192308	0.260417	0.166667	0.125	4903.95	250	chr3	195779374	.	C	A	4903.95	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-3.516;DP=2853;ExcessHet=0.0731;FS=0.602;InbreedingCoeff=0.2295;MLEAC=4;MLEAF=0.167;MQ=54.1;MQRankSum=-11.92;QD=8.62;ReadPosRankSum=3.98;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,26:272:99:0|1:195779325_A_G:351,0,10251:195779325	9	0	3	7
chr3	195779396	195779396	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12184A:p.A4062T	.	721	773	10	13	5	41	0.022756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.00658946	0.0004	0.0016	0	0.0122	0	0.0006	0	0	0.0087214	227	26028	rs1045994646	0.0023	0.0034	0.0020	0.0026	0.0070	0.0022	0.0021	0.0059	0.0057	0.0012	0.0023	0.0127	0.0070	0.0009	0.0018	0.0015	0.0033	0.0065	0.0005	0.0066	0.0005	0.0006	0.0018	0.0004	0.0003	0.0005	0.0003	0.0004	0	0.0002	0.0010	0	0.0010	0	0.0006	0	0.0018	0.381	0.11156	T	0.32	0.19421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	1.09	0.39223	T	0.15	0.05310	N	0.027	0.01911	-1.0217	0.23162	T	0.049	0.20947	T	6	0.004883051	0.00104	T	.	.	.	0.018	0.03083	.	.	0.0138822411134	0.00435	8.859181890935445E-4	0.00081	.	.	0.561056256294	0.47417	T	.	.	.	-0.33961	0.05414	T	-0.725603	0.04530	T	0.00650792362145855	0.00073	T	0.644935	0.25655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.;.	.;.	-0.182403	0.03181	0.522	0.11935079734247947	0.00193	0.00048	0.00378	N	AEFBI	0.042374	0.06568	N	-1.28913511390244	0.03805	0.1706414	-1.40577124198539	0.03194	0.1484848	1.87232314028135E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.704000	0.05160	-4.490000	0.02130	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3304:0.3444:0.3251	2.145	0.03553	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.242585	0.405405	0.195035	0.195652	0.416667	0.220000	0.294118	0.169014	0.2083	4879.21	216	chr3	195779396	.	C	T	4879.21	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-3.05;DP=2869;ExcessHet=0.0731;FS=0.602;InbreedingCoeff=0.1684;MLEAC=7;MLEAF=0.292;MQ=54.32;MQRankSum=-11.44;QD=8.53;ReadPosRankSum=3.75;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,26:265:99:0|1:195779325_A_G:373,0,9874:195779325	8	1	3	7
chr3	195781292	195781292	T	0	exonic	MUC4	.	.	.	.	432	934	41	0	115	156	0.0214772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	18047.4	839	chr3	195781292	.	T	*	18047.4	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.323;DP=9717;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=58.26;MQRankSum=-4.562;QD=4.59;ReadPosRankSum=1.07;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:477,179:658:99:0|1:195781292_T_G:6721,0,19360:195781292	17	0	2	0
chr3	195781317	195781317	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	20244.4	887	chr3	195781317	.	G	*	20244.4	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.945;DP=9881;ExcessHet=1.3;FS=0.572;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=58.7;MQRankSum=-5.349;QD=5.09;ReadPosRankSum=0.036;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:507,179:690:99:.:.:6568,0,21145:.	17	0	2	0
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	7231.06	732	chr3	195781583	.	T	*	7231.06	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.763;DP=9189;ExcessHet=8.9063;FS=5.102;InbreedingCoeff=-0.4615;MLEAC=11;MLEAF=0.324;MQ=57.68;MQRankSum=-7.567;QD=1.27;ReadPosRankSum=-4.714;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:644,70:714:99:.:.:1065,0,26277:.	7	0	10	2
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	69413.1	655	chr3	195781628	.	C	*	69413.1	.	AC=18;AF=0.5;AN=36;BaseQRankSum=1.32;DP=6779;ExcessHet=0.0128;FS=0.963;InbreedingCoeff=0.468;MLEAC=19;MLEAF=0.528;MQ=55.59;MQRankSum=1.83;QD=11.34;ReadPosRankSum=1.72;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,391:651:99:0|1:195781522_A_G:9778,0,9855:195781522	5	5	8	1
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	658.06	322	chr3	195781829	.	C	*	658.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.153;DP=3409;ExcessHet=2.1068;FS=0;InbreedingCoeff=-0.0836;MLEAC=13;MLEAF=0.361;MQ=36.34;MQRankSum=-1.172;QD=0.24;ReadPosRankSum=-0.678;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:214,148:362:99:.:.:2665,0,8442:.	7	1	10	1
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6977.18	326	chr3	195783086	.	A	*	6977.18	.	AC=6;AF=0.214;AN=28;BaseQRankSum=0.104;DP=7530;ExcessHet=3.5988;FS=4.05;InbreedingCoeff=-0.2453;MLEAC=7;MLEAF=0.25;MQ=57.15;MQRankSum=-9.801;QD=1.64;ReadPosRankSum=-1.832;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:446,432:906:99:.:.:964,0,18369:.	8	0	6	5
chr3	195783338	195783338	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G8242T:p.G2748C	.	455	1007	2	0	58	60	0.000992063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000829727467245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.488e-05	4.903e-05	3.373e-05	3.605e-05	0.0001	2.573e-05	2.247e-05	5.908e-05	4.287e-05	0	6.527e-05	0	3.781e-05	5.163e-05	0	2.736e-05	4.544e-05	0.0001	0	2.421e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.008	0.58626	D	0.037	0.52060	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.33	0.35031	T	-0.68	0.21003	N	0.166	0.17553	-1.0283	0.21005	T	0.040	0.17277	T	8	0.07973048	0.12859	T	8.3E-4	0.00691	T	0.017	0.02790	0.228	0.15406	0.104622674875	0.10061	3.373903443510514E-5	0.00003	.	.	0.550686538219	0.45954	T	.	.	.	-0.317087	0.07139	T	-0.69325	0.06203	T	0.0756152001734978	0.09417	T	0.823618	0.48435	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.56876	A	.;.	.;.	1.876856	0.23837	16.17	0.92086116401981777	0.21435	0.00220	0.01242	N	AEFBI	0.088572	0.17956	N	-1.158922318391	0.05634	0.2573805	-1.25988911580476	0.04986	0.2365479	1.21477736443141E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-0.144	0.12783	-2.092000	0.01442	-3.442000	0.02784	0.120000	0.17638	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.3349:0.3894:0.0:0.2756	1.611	0.02531	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1423.54	279	chr3	195783338	.	C	A	1423.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.682;DP=2666;ExcessHet=0;FS=7.466;InbreedingCoeff=0.6297;MLEAC=1;MLEAF=0.026;MQ=53.91;MQRankSum=-4.13;QD=7.95;ReadPosRankSum=8.98;SOR=1.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,65:117:99:0|1:195783338_C_A:1437,0,1410:195783338	18	0	1	0
chr3	195784244	195784244	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G7336A:p.A2446T,MUC4:NM_001322468:exon7:c.G7288A:p.A2430T	.	433	1078	10	0	1	11	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.000820917494916	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290099392	5.921e-05	0.0002	5.365e-05	6.49e-05	0.0008	4.799e-05	4.41e-05	0.0002	0.0001	0.0001	0.0002	0.0003	2.959e-05	2.212e-05	0.0008	4.833e-05	9.917e-05	0	9.552e-05	0.0010	0.0001	6.535e-05	0.0002	5.482e-05	4.311e-05	5.282e-05	3.706e-05	0.0001	0	0	0	0.0002	0	0	0.0001	0	0	0.879	0.12109	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.29	0.35775	T	0.23	0.05503	N	0.039	0.01577	-1.0324	0.19681	T	0.025	0.10910	T	8	0.039129823	0.02381	T	8.21E-4	0.00670	T	0.029	0.06676	.	.	0.0138822411134	0.00435	1.3437775429296162E-4	0.00011	.	.	0.575703263283	0.49481	T	.	.	.	-0.357915	0.04249	T	-0.751897	0.03413	T	0.0118334493951269	0.00184	T	0.662834	0.27173	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02733	B	.;.	.;.	0.503812	0.08731	5.502	0.92524653414164304	0.21967	0.00151	0.00912	N	AEFDBCI	0.026535	0.02009	N	-1.59426760012223	0.01293	0.05631308	-1.68263876273484	0.01216	0.05476597	7.32536357830108E-5	0.04552	0.713056	0.82018	0	0.446627	0.06534	0	0.608524	0.38960	0	0.613276	0.41899	0	.	.	1.04	-2.07	0.06873	-2.951000	0.00743	-1.283000	0.05821	0.241000	0.18245	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2294:0.3384:0.2294:0.2028	0.531	0.00586	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	1042.55	1016	chr3	195784244	.	C	T	1042.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-5.101;DP=13113;ExcessHet=0;FS=4.19;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.031;MQ=58.35;MQRankSum=-24.85;QD=0.94;ReadPosRankSum=-5.602;SOR=1.159	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:975,133:1108:99:0|1:195784244_C_T:1055,0,40381:195784244	15	0	1	3
chr3	195784253	195784253	T	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A7327T:p.T2443S,MUC4:NM_001322468:exon7:c.A7279T:p.T2427S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00297583410487	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1250775982	3.413e-05	0.0001	3.537e-05	3.287e-05	0.0001	2.556e-05	2.266e-05	4.272e-05	2.601e-05	0	0.0001	0.0003	8.667e-05	2.167e-05	0	2.552e-05	7.797e-05	0	7.184e-06	0.0004	0	1.465e-05	1.532e-05	0	0	.	.	0	0	0	0	0	0	0	1.532e-05	0	0	0.158	0.23905	T	0.523	0.10354	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	1.22	0.37052	T	-0.42	0.14193	N	0.12	0.12913	-1.0594	0.11905	T	0.036	0.15683	T	7	0.09307006	0.16441	T	0.002976	0.06339	T	0.030	0.07022	0.177	0.08379	0.0138822411134	0.00435	8.433381505329954E-5	0.00007	.	.	0.553493976593	0.46351	T	.	.	.	-0.281767	0.10481	T	-0.642515	0.09486	T	0.094187685300404	0.11705	T	0.515049	0.16594	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33846	B	.;.	.;.	1.715760	0.21849	15.37	0.60171392431979309	0.06399	0.01116	0.04076	N	AEFDBCI	0.050301	0.08777	N	-0.971369795143328	0.09219	0.4354167	-1.12376378097729	0.07248	0.3518398	1.15460308272511E-5	0.02871	0.713056	0.82018	0	0.546412	0.12157	0	0.608524	0.38960	0	0.613276	0.41899	0	.	.	.	.	.	1.810000	0.38570	-1.238000	0.05941	0.263000	0.18423	0.948000	0.32982	0.000000	0.08366	0.006000	0.07323	0.0:0.3493:0.0:0.6507	2.751	0.04955	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	1374.55	1016	chr3	195784253	.	T	A	1374.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-9.028;DP=13325;ExcessHet=0;FS=2.756;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.031;MQ=58.18;MQRankSum=-25.83;QD=1.23;ReadPosRankSum=-2.928;SOR=1.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:970,148:1118:99:0|1:195784244_C_T:1387,0,39942:195784244	15	0	1	3
chr3	195787234	195787234	G	0	exonic	MUC4	.	.	.	.	800	531	39	11	141	202	0.0543188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	128.37	13	chr3	195787234	.	G	*	128.37	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-1.628;DP=361;ExcessHet=5.3738;FS=7.172;InbreedingCoeff=-0.2264;MLEAC=8;MLEAF=0.211;MQ=38.2;MQRankSum=-1.235;QD=1.18;ReadPosRankSum=-1.531;SOR=1.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,7:47:99:.:.:190,0,1376:.	11	0	8	0
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3290.32	7	chr3	195787273	.	T	*	3290.32	.	AC=7;AF=0.25;AN=28;BaseQRankSum=0.089;DP=300;ExcessHet=0.0073;FS=10.133;InbreedingCoeff=0.4493;MLEAC=9;MLEAF=0.321;MQ=37.73;MQRankSum=-0.235;QD=18.7;ReadPosRankSum=-0.328;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,7:39:42:0|1:195787238_C_*:211,0,1116:195787238	7	0	7	5
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	4502.91	22	chr3	195787579	.	G	*	4502.91	.	AC=11;AF=0.344;AN=32;DP=817;ExcessHet=0;FS=4.104;InbreedingCoeff=0.7912;MLEAC=13;MLEAF=0.406;MQ=51.17;QD=6.84;SOR=1.088	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,40:224:99:0|1:195787508_T_C:1126,0,7549:195787508	10	5	1	3
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4231	3569.69	15	chr3	195787584	.	A	*	3569.69	.	AC=11;AF=0.423;AN=26;DP=792;ExcessHet=0;FS=5.111;InbreedingCoeff=0.6864;MLEAC=15;MLEAF=0.577;MQ=50.02;QD=5.6;SOR=1.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,40:224:99:0|1:195787508_T_C:1126,0,7549:195787508	7	5	1	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	725.76	4	chr3	195787598	.	GCAT	*	725.76	.	AC=11;AF=0.344;AN=32;DP=718;ExcessHet=0;FS=3.908;InbreedingCoeff=0.7404;MLEAC=14;MLEAF=0.438;MQ=42.8;QD=1.26;SOR=1.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,40:224:99:0|1:195787508_T_C:1126,0,7549:195787508	10	5	1	3
chr3	195787599	195787599	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787599	.	C	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,40:224:99:0|1:195787508_T_C:1126,0,7549:195787508	4	8	1	6
chr3	195787600	195787600	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787600	.	A	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,40:224:99:0|1:195787508_T_C:1126,0,7549:195787508	4	8	1	6
chr3	196327567	196327567	C	A	exonic	TM4SF19	.	nonsynonymous SNV	TM4SF19:NM_001204897:exon2:c.G24T:p.Q8H,TM4SF19:NM_001204898:exon2:c.G24T:p.Q8H,TM4SF19:NM_138461:exon2:c.G24T:p.Q8H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00575507565025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.001	0.83351	D	0.09	0.25173	B	0.006	0.12133	B	0.969300	0.08170	N	0.984540	1	0.08975	N	0	0.06538	N	1.89	0.30401	T	-0.44	0.14588	N	0.145	0.21969	-1.0291	0.20746	T	0.046	0.19680	T	10	0.08431238	0.14119	T	0.005755	0.14922	T	0.077	0.22490	0.082	0.00727	0.0666544352282	0.05500	0.41087226751347145	0.41003	0.365871484556	0.38178	0.346125394106	0.17350	T	5.0E-4	0.00188	T	-0.292876	0.09349	T	-0.658472	0.08370	T	0.133821977686669	0.15730	T	0.259474	0.04134	T	0.060401097	0.12388	0.05709488	0.10317	0.060401097	0.12387	0.05709488	0.10317	-4.074	0.24905	T	.	.	0.165	0.36416	B	.;.;.	.;.;.	0.997295	0.13754	10.30	0.94910336921805161	0.25773	0.30661	0.24139	N	AEFDGBHI	0.113192	0.22343	N	-0.877578181244259	0.11377	0.5487282	-0.801807887587937	0.14453	0.7551701	0.999888630074587	0.44867	0.497415	0.19182	0	0.550933	0.16991	0	0.298653	0.05632	1	0.542086	0.14980	0	.	.	5.58	4.71	0.59010	2.059000	0.41010	1.527000	0.27132	-0.173000	0.11020	0.320000	0.25502	0.999000	0.35428	0.011000	0.09372	0.1724:0.8276:0.0:0.0	12.06	0.52854	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1494.33	38	chr3	196327567	.	C	A	1494.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=852;ExcessHet=0;FS=5.059;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.644;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,41:112:99:0|1:196327567_C_A:1508,0,2816:196327567	18	0	1	0
chr4	973283	973283	G	A	exonic	DGKQ	.	nonsynonymous SNV	DGKQ:NM_001347:exon1:c.C200T:p.T67M	.	396	1109	17	0	0	17	0.00760626	.	.	.	2668283	Usher_syndrome	MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	.	0.0002	0.0269569	0.0273	0.0010	0.0011	0.0025	0	0.0003	0.0033	0.1194	0.0107696	1665	154602	rs369795656	0.0055	0.0058	0.0029	0.0082	0.0918	0.0054	0.0054	0.0900	0.0893	0.0005	0.0002	0	0.0009	2.028e-05	0.0054	4.183e-05	0.0067	0.0918	0.0038	0.0038	0.0019	0.0057	0.1026	0.0035	0.0034	0.0951	0.0921	0.0012	0	0.0007	0	0.0029	0	0	2.945e-05	0.0005	0.1026	0.028	0.46129	D	0.02	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000045	0.53742	U	0.000000	0.999947	0.51968	D	3.105	0.87672	M	2.53	0.14038	T	-3.28	0.65627	D	0.199	0.21969	-1.1300	0.01782	T	0.076	0.30645	T	10	0.0031601489	0.00053	T	.	.	.	0.180	0.45073	.	.	.	.	0.3839489449363259	0.38309	0.5886941255	0.54410	0.91642165184	0.98039	D	0.652037	0.89453	D	-0.483532	0.00706	T	-0.394379	0.34039	T	0.0736102005167175	0.09149	T	0.914409	0.69449	D	0.17884614	0.38926	0.16036269	0.37354	0.17884614	0.38926	0.16036269	0.37353	-10.716	0.78077	D	.	.	0.545	0.66566	A	.	.	4.914247	0.80885	27.4	0.99812290388577851	0.89620	0.38952	0.26104	N	AEFDBCIJ	0.137194	0.25810	N	0.222820973628795	0.52306	3.405655	0.0608476031219107	0.42598	2.57942	0.999999938097098	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.606884	0.38211	0	0.71	0.69187	0	.	.	1.96	1.08	0.19456	5.430000	0.66239	.	.	0.559000	0.28343	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.1727:0.0:0.8273:0.0	6.323	0.20435	759	0.50631	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	.	.	.	.	.	Likely benign	0	0	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	0.010960	0.005495	0.004167	0.000000	0.000000	0.017544	0.003268	0.034615	0.02632	1137.33	33	chr4	973283	.	G	A	1137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.695;DP=702;ExcessHet=0;FS=1.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.389;SOR=0.473	GT:AD:DP:GQ:PL	0/1:29,52:81:99:1151,0,601	18	0	1	0
chr4	989606	989606	C	T	exonic	SLC26A1	.	nonsynonymous SNV	SLC26A1:NM_022042:exon3:c.G1333A:p.V445I,SLC26A1:NM_213613:exon4:c.G1333A:p.V445I	.	426	1078	18	0	0	18	0.00827967	.	.	.	1154862	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.244	.	0.0057	0.0279553	0.0266	0.0370	0.0052	0.0028	0	0.0002	0.0156	0.1049	0.0108925	1684	154602	rs144218313	0.0056	0.0056	0.0033	0.0078	0.0801	0.0055	0.0054	0.0785	0.0779	0.0198	0.0013	0	0.0014	0	0.0062	5.415e-05	0.0075	0.0801	0.0090	0.0090	0.0077	0.0103	0.0880	0.0086	0.0084	0.0811	0.0783	0.0206	0	0.0030	0	0.0031	0	0	0.0001	0.0076	0.0880	1.0	0.00964	T	1.0	0.01155	T	0.018	0.17786	B	0.02	0.19048	B	0.000014	0.62929	N	0.147984	1	0.81001	D	-1.32	0.00691	N	-2.85	0.91363	D	0.64	0.02368	N	0.03	0.00882	-0.7592	0.57449	T	0.144	0.46587	T	10	0.002918154	0.00047	T	.	.	.	0.244	0.55061	.	.	.	.	0.1648016049755078	0.16400	0.0927899638918	0.10482	0.517632961273	0.41293	T	0.319424	0.69071	T	-0.503852	0.00544	T	-0.437345	0.29106	T	0.0043503390599124	0.00046	T	0.769523	0.39899	T	0.021258948	0.00719	0.038369723	0.03691	0.020941088	0.00672	0.038369723	0.03690	-2.504	0.05808	T	0.047817327462913166	0.00712	0.069	0.03093	B	.;.	.;.	0.338131	0.07118	3.695	0.93267744451170786	0.22965	0.28434	0.23553	N	AEFDBCI	0.067344	0.13233	N	-1.06657547264214	0.07266	0.3370261	-0.909585079733314	0.11868	0.6072241	0.992335119144118	0.32802	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	5.14	-0.402	0.11786	2.086000	0.41268	.	.	0.594000	0.32500	0.989000	0.36753	0.000000	0.08366	0.632000	0.32210	0.0:0.3274:0.0:0.6726	8.133	0.30195	794	0.45591	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012742	0.000000	0.002725	0.002976	0.000000	0.017241	0.003185	0.030303	0.02632	1388.33	42	chr4	989606	.	C	T	1388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=919;ExcessHet=0;FS=0.715;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.412;SOR=0.589	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1402,0,1400	18	0	1	0
chr4	3074934	3074936	CAA	-	exonic	HTT	.	nonframeshift deletion	HTT:NM_002111:exon1:c.109_111del:p.Q38del	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1157773340	4.17e-05	5.424e-05	4.192e-05	4.149e-05	9.699e-05	3.28e-05	2.943e-05	3.298e-05	2.944e-05	3.908e-05	6.178e-05	4.204e-05	9.699e-05	0	0	4.327e-05	1.827e-05	2.708e-05	3.996e-05	4.558e-05	4.681e-05	3.277e-05	7.001e-05	1.568e-05	9.49e-06	2.333e-05	1.4e-05	3.092e-05	0	0	0	0	0	0	7.001e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	382.31	40	chr4	3074933	.	GCAA	G	382.31	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.333;DP=878;ExcessHet=0;FS=0;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-1.006;SOR=0.616	GT:AD:DP:GQ:PL	0/1:17,13:30:99:396,0,655	18	0	1	0
chr4	3074935	3074935	A	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2035.1	40	chr4	3074935	.	A	*	2035.1	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.17;DP=877;ExcessHet=0.0506;FS=4.673;InbreedingCoeff=0.3091;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=1.59;SOR=1.169	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,13:18:99:0|1:3074927_G_GCAA:621,209,654:3074927	18	0	1	0
chr4	3444331	3444331	C	T	exonic	HGFAC	.	nonsynonymous SNV	HGFAC:NM_001297439:exon6:c.C619T:p.R207C,HGFAC:NM_001528:exon6:c.C619T:p.R207C	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	.	.	0.00519169	0.0068	0.0003	0	0	0.0008	0.0002	0.0061	0.0296	0.0028007	433	154602	rs377317114	0.0015	0.0015	0.0008	0.0022	0.0238	0.0014	0.0014	0.0229	0.0225	9.02e-05	0	0	2.585e-05	0.0005	0.0017	3.171e-05	0.0015	0.0238	0.0008	0.0008	0.0004	0.0012	0.0235	0.0007	0.0006	0.0199	0.0186	2.406e-05	0	0	0	0.0002	0.0004	0	4.412e-05	0	0.0235	0.161	0.23631	T	0.181	0.29540	T	0.125	0.90584	B	0.058	0.70163	B	0.000361	0.45194	D	0.148873	0.99974	0.20548	N	2.19	0.61577	M	0.82	0.48142	T	-0.12	0.08809	N	0.533	0.56145	-0.8645	0.50937	T	0.230	0.59521	T	10	0.0058221817	0.00130	T	.	.	.	0.234	0.53644	0.735	0.86806	0.439870908748	0.43606	0.5105221306996212	0.50974	0.332123583338	0.35272	0.459483772516	0.33239	T	0.027262	0.20004	T	-0.351053	0.04661	T	-0.258115	0.49013	T	0.0630882125442497	0.07646	T	0.890911	0.62511	D	0.59571356	0.72460	0.40398812	0.64839	0.59571356	0.72461	0.40398812	0.64839	-10.542	0.77088	D	.	.	0.347	0.59733	A	.;.	.;.	3.377443	0.46700	22.3	0.99872932274009241	0.95076	0.06174	0.12157	N	AEFDBCI	0.464142	0.51276	N	-0.20299312494339	0.33010	1.868106	-0.274996458975164	0.28925	1.61653	0.999988590835788	0.51787	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.74	3.74	0.42108	2.406000	0.44210	7.266000	0.57975	0.530000	0.24713	0.596000	0.27714	1.000000	0.68203	0.287000	0.24188	0.0:1.0:0.0:0.0	13.070	0.58468	867	0.32089	Fibronectin, type I|Fibronectin, type I|Fibronectin, type I|Fibronectin, type I|Fibronectin, type I;Fibronectin, type I|Fibronectin, type I|Fibronectin, type I|Fibronectin, type I|Fibronectin, type I	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002530	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.011364	0.02632	1028.33	43	chr4	3444331	.	C	T	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=844;ExcessHet=0;FS=4.182;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.9;ReadPosRankSum=0.025;SOR=0.934	GT:AD:DP:GQ:PL	0/1:103,46:149:99:1042,0,2618	18	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	6195.3	135	chr4	6862306	.	T	C	6195.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.635;DP=2656;ExcessHet=38.2876;FS=246.725;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=1.38;SOR=13.192	GT:AD:DP:GQ:PL	0/1:90,41:131:99:411,0,2035	1	0	18	0
chr4	36284092	36284092	T	A	exonic	DTHD1	.	nonsynonymous SNV	DTHD1:NM_001170700:exon2:c.T388A:p.C130S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00427034204522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	0.09486	T	0.747	0.04860	T	.	.	.	.	.	.	.	.	.	.	0.999653	0.48079	D	0.92	0.23413	L	2.28	0.17271	T	0.16	0.05217	N	0.149	0.15187	-0.9625	0.38704	T	0.016	0.06521	T	7	0.048432767	0.04292	T	0.00427	0.10341	T	0.006	0.00375	0.31	0.28289	0.0138822411134	0.00435	0.5310099045962012	0.53024	.	.	0.317479729652	0.13039	T	0.001001	0.00540	T	-0.291604	0.09475	T	-0.656645	0.08494	T	0.0275753923912401	0.01626	T	0.524848	0.17228	T	0.042683173	0.06517	0.078150876	0.17479	0.042683173	0.06516	0.078150876	0.17478	-1.772	0.02427	T	.	.	0.156	0.34580	B	.;.;.	.;.;.	0.660686	0.10293	7.024	0.62322575388247636	0.06933	0.10266	0.15820	N	AEFDIJ	0.041724	0.06380	N	-0.630399732497781	0.18036	0.9331414	-0.58056758653921	0.20000	1.075598	0.990158767214886	0.32057	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	1.75	0.23707	0.407000	0.20770	0.574000	0.19636	-0.169000	0.11342	0.112000	0.23030	0.236000	0.23818	0.411000	0.27028	0.3908:0.1186:0.0:0.4906	2.847	0.05206	683	0.59664	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	759.33	33	chr4	36284092	.	T	A	759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.762;DP=721;ExcessHet=0;FS=3.013;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=1.29;SOR=1.044	GT:AD:DP:GQ:PL	0/1:48,31:79:99:773,0,1301	18	0	1	0
chr4	37447091	37447091	C	A	exonic	NWD2	.	nonsynonymous SNV	NWD2:NM_001144990:exon7:c.C5103A:p.S1701R	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.328103962924	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252409524	1.429e-06	1.368e-06	1.41e-06	1.449e-06	0.0004	2.4e-07	9e-08	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999902	0.50806	D	0.805	0.20218	L	-1.81	0.83970	D	-0.77	0.21429	N	0.626	0.64052	0.018	0.82615	D	0.567	0.84290	D	10	0.42785937	0.57294	T	0.328104	0.91671	D	0.498	0.78226	0.242	0.17524	0.218112801441	0.21410	0.79861766631478	0.79814	.	.	0.682475864887	0.64624	T	0.02531	0.18949	T	0.169255	0.71056	D	0.00534709	0.70682	D	0.70616809300349	0.41014	D	0.89741	0.64114	D	0.4983242	0.66997	0.35435712	0.60981	0.4983242	0.66998	0.35435712	0.60981	-4.099	0.25275	T	.	.	0.963	0.88401	P	.	.	2.928992	0.38908	20.8	0.99725776412609679	0.82406	0.85098	0.44203	D	AEFBI	0.322229	0.42479	N	0.012286069929422	0.42413	2.555031	-0.0269840368582314	0.38501	2.269179	0.28609214623292	0.19038	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.96	-0.779	0.10419	0.322000	0.19323	-1.084000	0.06380	-0.176000	0.10722	0.995000	0.38783	0.001000	0.17328	0.992000	0.67800	0.0:0.4003:0.0:0.5997	11.672	0.50668	869	0.31655	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2371.33	42	chr4	37447091	.	C	A	2371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.878;DP=914;ExcessHet=0;FS=1.092;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.369;SOR=0.598	GT:AD:DP:GQ:PL	0/1:110,92:202:99:2385,0,2800	18	0	1	0
chr4	37590701	37590701	T	A	exonic	C4orf19	.	nonsynonymous SNV	C4orf19:NM_018302:exon3:c.T646A:p.S216T,C4orf19:NM_001104629:exon4:c.T646A:p.S216T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00733286473789	.	.	1.652e-05	0	0	0	0	1.502e-05	0	6.066e-05	1.29e-05	2	154602	rs757190120	4.105e-06	4.104e-06	4.084e-06	4.126e-06	1.159e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.23541	T	0.489	0.11586	T	0.005	0.12996	B	0.006	0.12133	B	0.066977	0.21774	N	0.400455	1	0.08975	N	1.5	0.37844	L	1.42	0.33189	T	-0.28	0.11547	N	0.036	0.01068	-1.0344	0.19046	T	0.038	0.16333	T	10	0.039312273	0.02412	T	0.007333	0.19442	T	0.005	0.00259	0.213	0.13210	0.134241683229	0.13084	0.05343745263624834	0.05285	0.111018026078	0.12528	.	.	.	0.005377	0.04831	T	-0.430021	0.01482	T	-0.758618	0.03162	T	0.0367877731701572	0.03118	T	0.321068	0.06505	T	0.033453844	0.03567	0.042563867	0.05096	0.033453844	0.03567	0.042563867	0.05096	-3.649	0.18568	T	.	.	0.075	0.05800	B	.;.	.;.	0.770036	0.11402	8.011	0.74260697572597145	0.10629	0.01648	0.05296	N	AEFBI	0.038822	0.05549	N	-1.16816846180801	0.05487	0.2502902	-1.15134956210134	0.06744	0.325646	0.8653599276701	0.25308	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.15	2.4	0.28568	-0.509000	0.06419	-0.257000	0.10458	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3661:0.4129:0.1362:0.0849	3.363	0.06775	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1939.33	34	chr4	37590701	.	T	A	1939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=862;ExcessHet=0;FS=6.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.921;SOR=1.003	GT:AD:DP:GQ:PL	0/1:77,69:146:99:1953,0,1892	18	0	1	0
chr4	37830034	37830034	T	C	exonic	PGM2	.	nonsynonymous SNV	PGM2:NM_018290:exon2:c.T152C:p.F51S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0954104445146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.869e-07	6.84e-07	1.368e-06	0	9.017e-07	0	0	.	.	0	0	0	0	0	0	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.693	0.41684	P	0.739	0.55653	P	0.000000	0.84330	D	0.048588	0.999999	0.81001	D	2.915	0.84231	M	-0.08	0.63911	T	-3.46	0.67705	D	0.907	0.91162	-0.1089	0.79893	T	0.425	0.76910	T	10	0.9392574	0.93253	D	0.09541	0.76423	D	0.574	0.82742	0.779	0.90388	0.881842698523	0.88068	0.9657782908069559	0.96564	0.205710676034	0.22994	0.588236451149	0.51246	T	0.91551	0.98444	D	0.288801	0.82056	D	0.177066	0.81826	D	0.988748908042908	0.79039	D	0.855414	0.61533	D	0.6700662	0.76437	0.71397454	0.83121	0.6700662	0.76438	0.71397454	0.83122	-11.688	0.83298	D	.	.	0.923	0.84437	P	.;.	.;.	5.024944	0.83534	28.1	0.99865287228084942	0.94366	0.95306	0.64209	D	AEFBCI	0.710380	0.66416	D	0.586373256555931	0.72322	5.787748	0.585158434108229	0.73877	6.042619	0.999999999995359	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.833000	0.69056	7.850000	0.70922	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:0.0:1.0	15.536	0.75742	832	0.38914	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	520.33	33	chr4	37830034	.	T	C	520.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.537;DP=724;ExcessHet=0;FS=1.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.35;ReadPosRankSum=1.09;SOR=1.011	GT:AD:DP:GQ:PL	0/1:50,32:82:99:534,0,1133	18	0	1	0
chr4	56378148	56378148	C	A	exonic	AASDH	.	nonsynonymous SNV	AASDH:NM_001286668:exon3:c.G368T:p.R123L,AASDH:NM_001286669:exon3:c.G209T:p.R70L,AASDH:NM_001323893:exon3:c.G209T:p.R70L,AASDH:NM_001286671:exon4:c.G668T:p.R223L,AASDH:NM_001286672:exon4:c.G668T:p.R223L,AASDH:NM_001323890:exon4:c.G668T:p.R223L,AASDH:NM_001323892:exon4:c.G668T:p.R223L,AASDH:NM_181806:exon4:c.G668T:p.R223L	.	424	1095	3	0	0	3	0.00136799	0.9973	0.65	.	2822532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.243	0.0492750021301	0.0028	0.00119808	0.0027	9.664e-05	0.0005	0	0.0053	0.0039	0.0012	0.0017	0.0026649	412	154602	rs73240543	0.0038	0.0038	0.0039	0.0038	0.0044	0.0037	0.0037	0.0043	0.0042	0.0004	0.0004	3.991e-05	0	0.0054	0.0044	0.0044	0.0042	0.0013	0.0024	0.0023	0.0025	0.0022	0.0037	0.0022	0.0021	0.0033	0.0032	0.0005	0.0197	0.0003	0	0	0.0049	0	0.0037	0.0028	0.0010	0.007	0.68238	D	0.009	0.66756	D	0.959	0.62824	D	0.678	0.63213	P	0.011013	0.29696	N	0.344624	1	0.81001	D	2.02	0.55341	M	1.06	0.39781	T	-4.52	0.78302	D	0.572	0.59478	-0.9117	0.46645	T	0.173	0.51579	T	9	0.016572744	0.00350	T	0.049275	0.63741	D	0.243	0.54921	.	.	0.525205403968	0.52167	0.7784720199984064	0.77797	0.36845708657	0.38399	0.20993205905	0.00808	T	0.072765	0.35927	T	-0.400759	0.02289	T	-0.34652	0.39604	T	0.0453639667436107	0.04668	T	0.90311	0.66162	D	0.24539839	0.47498	0.27441525	0.53370	0.24539839	0.47498	0.27441525	0.53369	-11.702	0.85897	D	.	.	0.288	0.51985	B	.;.;.;.;.	.;.;.;.;.	3.313958	0.45546	22.1	0.98978681704468419	0.49680	0.93278	0.57791	D	AEFBI	0.641784	0.61899	D	-0.240262257991727	0.31494	1.766498	-0.293620820487855	0.28309	1.577459	0.694675189892409	0.22627	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.82	1.16	0.19936	0.601000	0.23818	-0.027000	0.12846	-1.682000	0.00784	0.993000	0.37899	0.716000	0.26323	0.203000	0.21983	0.0:0.6926:0.0:0.3074	13.021	0.58190	323	0.86843	AMP-dependent synthetase/ligase;.;.;AMP-dependent synthetase/ligase;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	1318.33	35	chr4	56378148	.	C	A	1318.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.228;SOR=0.663	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1332,0,1407	18	0	1	0
chr4	56930765	56930765	A	G	exonic	REST	.	nonsynonymous SNV	REST:NM_001193508:exon4:c.A1907G:p.H636R,REST:NM_001363453:exon4:c.A1907G:p.H636R,REST:NM_005612:exon4:c.A1907G:p.H636R	.	.	.	.	.	.	.	.	.	.	.	1907141	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00221243570701	.	.	3.389e-05	0	0	0	0	4.611e-05	0	6.361e-05	2.59e-05	4	154602	rs769381343	1.859e-05	1.847e-05	2.192e-05	1.523e-05	0.0007	1.273e-05	1.091e-05	0.0002	0.0001	0	0	3.951e-05	0	0	0.0007	1.263e-05	3.345e-05	7.051e-05	6.61e-06	6.582e-06	1.292e-05	0	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	0.352	0.12226	T	0.681	0.06090	T	0.0	0.02946	B	0.0	0.01387	B	0.262839	0.15280	N	0.489267	1	0.08975	N	0	0.06538	N	3.26	0.06681	T	-0.34	0.12661	N	0.086	0.07398	-0.9375	0.43010	T	0.010	0.03765	T	10	0.045360148	0.03597	T	0.002212	0.04178	T	0.011	0.01250	0.416	0.45544	0.102598925029	0.09809	0.02475156158710952	0.02426	0.0192080480696	0.01881	0.223862797022	0.01544	T	0.094465	0.39422	T	-0.5899	0.00168	T	-0.836818	0.01147	T	0.0240677669644356	0.01153	T	0.189981	0.02023	T	0.0318839	0.03110	0.027295487	0.00872	0.0318839	0.03110	0.027295487	0.00872	-2.557	0.06183	T	.	.	0.067	0.02342	B	.;.	.;.	-0.180288	0.03192	0.526	0.5092414628528511	0.04470	0.10630	0.16082	N	AEFBCI	0.038863	0.05561	N	-1.22012538641464	0.04709	0.2130902	-1.20445086525049	0.05838	0.2793004	0.992340212901094	0.32806	0.631515	0.41029	0	0.577304	0.33150	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	3.99	2.17	0.26736	-0.920000	0.04121	-0.151000	0.11419	-0.261000	0.06906	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.189:0.5906:0.0:0.2204	4.158	0.09735	846	0.36215	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1408.33	34	chr4	56930765	.	A	G	1408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.481;DP=824;ExcessHet=0;FS=3.959;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-2.093;SOR=1.17	GT:AD:DP:GQ:PL	0/1:41,55:96:99:1422,0,1063	18	0	1	0
chr4	68945392	68945392	A	C	exonic	UGT2A3	.	nonsynonymous SNV	UGT2A3:NM_024743:exon2:c.T778G:p.W260G	.	1	1406	110	5	0	120	0.0409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	.	0.0028	0.00698882	0.0073	0.0005	0.0013	0	0	0.0036	0.0145	0.0372	0.00641	991	154602	rs62641705	0.0041	0.0041	0.0028	0.0053	0.0384	0.0040	0.0039	0.0373	0.0369	0.0003	0.0010	0.0215	7.576e-05	5.629e-05	0.0172	0.0014	0.0057	0.0384	0.0030	0.0030	0.0030	0.0030	0.0359	0.0027	0.0027	0.0315	0.0298	0.0002	0	0.0015	0.0239	0.0002	0.0003	0.0102	0.0022	0.0033	0.0359	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.986033	0.81001	D	3.65	0.94181	H	0.11	0.61208	T	-12.01	0.99630	D	0.741	0.74098	-0.0049	0.82155	T	0.447	0.78252	T	10	0.012360334	0.00266	T	.	.	.	0.429	0.73590	.	.	0.758552508207	0.75635	0.49207756518636214	0.49128	0.0192299428785	0.01881	0.445290029049	0.31300	T	0.210524	0.57104	T	-0.218644	0.18177	T	-0.0596829	0.66354	T	0.126290748303984	0.15035	T	.	.	.	0.91043717	0.92336	0.72808266	0.83935	0.91043717	0.92337	0.72808266	0.83936	-10.86	0.78884	D	.	.	0.635	0.70300	P	.	.	3.289622	0.45108	22.1	0.97635165120610046	0.35046	0.95821	0.66297	D	AEFBI	0.805579	0.73012	D	0.596173627938472	0.72934	5.884708	0.424873680903011	0.63117	4.539405	0.998945740685995	0.38034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.23	3.23	0.36150	5.361000	0.65845	.	.	0.572000	0.28966	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	9.770	0.39750	644	0.63734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014161	0.000000	0.006793	0.000000	0.050000	0.008621	0.024390	0.026515	0.05263	2784.83	48	chr4	68945392	.	A	C	2784.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.185;DP=836;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.725;SOR=0.671	GT:AD:DP:GQ:PL	0/1:47,63:110:99:1463,0,1040	17	0	2	0
chr4	69018306	69018306	T	G	exonic	UGT2B10	.	nonsynonymous SNV	UGT2B10:NM_001290091:exon3:c.A56C:p.H19P	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0023	9.812e-05	0.0003	0	0	0.0015	0.0022	0.0100	0.0019922	308	154602	rs200086061	0.0012	0.0012	0.0009	0.0015	0.0100	0.0011	0.0011	0.0094	0.0092	5.986e-05	0.0002	0.0192	0	0	0.0033	0.0002	0.0023	0.0100	0.0010	0.0010	0.0011	0.0009	0.0081	0.0009	0.0008	0.0061	0.0054	7.218e-05	0	0.0004	0.0219	0	0	0	0.0003	0.0014	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001603	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.003788	0.05263	6788.83	34	chr4	69018306	.	T	G	6788.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.668;DP=1261;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.2;MQRankSum=-0.399;QD=11.26;ReadPosRankSum=-1.122;SOR=0.701	GT:AD:DP:GQ:PL	0/1:152,138:290:99:3245,0,3716	17	0	2	0
chr4	75876611	75876611	T	G	exonic	PPEF2	.	nonsynonymous SNV	PPEF2:NM_006239:exon11:c.A996C:p.R332S	.	.	.	.	.	.	.	.	.	.	.	3591083	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.0124594872708	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303723776	1.242e-05	1.231e-05	8.228e-06	1.666e-05	0.0005	7.76e-06	6.4e-06	0.0001	7.654e-05	0	0	0	0	0	0.0005	1.084e-05	5.024e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	0.05106	T	0.658	0.11041	T	0.042	0.21471	B	0.042	0.24114	B	0.012850	0.01347	N	3.171070	1	0.08975	N	1.185	0.30054	L	1.11	0.38883	T	-0.15	0.09297	N	0.145	0.16168	-1.0600	0.11756	T	0.067	0.27434	T	10	0.0637393	0.08349	T	0.012459	0.31052	T	0.014	0.01968	0.417	0.45709	0.17258766438	0.16869	0.3002957081772375	0.29942	0.167897587978	0.18931	0.206551715732	0.00673	T	0.018355	0.14809	T	-0.309041	0.07833	T	-0.681693	0.06881	T	0.021773463141928	0.00883	T	0.458554	0.15685	T	0.08750637	0.20380	0.039030235	0.03904	0.08750637	0.20379	0.039030235	0.03904	-3.482	0.17367	T	.	.	0.144	0.32445	B	.;.	.;.	-0.686762	0.01351	0.076	0.3416387431681055	0.02075	0.02661	0.07276	N	AEFBI	0.113468	0.22387	N	-1.63394501142142	0.01104	0.04795077	-1.69410023145009	0.01163	0.05235382	0.00999065965042495	0.11946	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.94	-3.35	0.04620	-1.238000	0.03029	-0.308000	0.10061	-0.843000	0.02775	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3934:0.1524:0.4541	5.565	0.16451	904	0.23766	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	1194.33	38	chr4	75876611	.	T	G	1194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.369;DP=701;ExcessHet=0;FS=2.121;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-0.624;SOR=0.409	GT:AD:DP:GQ:PL	0/1:27,47:74:99:1208,0,626	18	0	1	0
chr4	86848793	86848793	C	G	exonic	SLC10A6	.	nonsynonymous SNV	SLC10A6:NM_197965:exon1:c.G323C:p.G108A	.	426	1092	4	0	0	4	0.00182815	.	.	.	2330521	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.611	0.0267913666406	.	.	0.0001	0	0	0	0	6.081e-05	0.0011	0.0006	8.41e-05	13	154602	rs755930779	6.025e-05	6.02e-05	4.359e-05	7.708e-05	0.0021	4.966e-05	4.631e-05	0.0012	0.0009	0.0001	2.244e-05	0	0	0	0.0021	2.429e-05	8.287e-05	0.0005	2.629e-05	2.627e-05	2.57e-05	2.691e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.000000	0.99999	0.58761	D	3.24	0.89678	M	2.48	0.14657	T	-5.61	0.86686	D	0.96	0.96984	-0.9422	0.42266	T	0.131	0.44208	T	10	0.9477718	0.94105	D	0.026791	0.49666	D	0.611	0.84773	0.857	0.95604	0.313818047136	0.31001	0.7592891617855005	0.75876	0.364717818005	0.38087	0.575932383537	0.49513	T	0.124277	0.44920	T	0.00395229	0.52197	T	0.10416	0.77184	D	0.6680788397789	0.39252	D	0.956404	0.83469	D	0.86134166	0.88188	0.7874522	0.87488	0.86134166	0.88190	0.7874522	0.87488	-10.624	0.77556	D	.	.	0.308	0.53603	B	.	.	4.363785	0.67123	25.1	0.99830902358184537	0.91284	0.95569	0.65245	D	AEFGBCI	0.929910	0.91640	D	0.871460293630216	0.90294	10.33874	0.810768543553655	0.90534	10.45041	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.74	5.74	0.90070	7.798000	0.84489	7.610000	0.61877	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.633000	0.32236	0.0:1.0:0.0:0.0	17.408	0.87370	713	0.56348	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1263.33	33	chr4	86848793	.	C	G	1263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.379;DP=787;ExcessHet=0;FS=4.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.586;SOR=1.188	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1277,0,1413	18	0	1	0
chr4	87613246	87613246	C	T	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon4:c.C1060T:p.R354C	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	1	1503	18	0	0	18	0.00595238	.	.	.	251598	Deafness,_autosomal_dominant_39,_with_dentinogenesis_imperfecta_1|Inborn_genetic_diseases|not_specified|not_provided	MONDO:MONDO:0011571,MedGen:C1854146,OMIM:605594,Orphanet:166260|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.270	0.104125782446	0.0034	0.00299521	0.0046	0.0014	0.0027	0.0002	0.0033	0.0051	0.0046	0.0082	0.0041267	638	154602	rs61731011	0.0051	0.0051	0.0050	0.0052	0.0086	0.0050	0.0050	0.0081	0.0079	0.0007	0.0034	0.0019	0.0009	0.0032	0.0043	0.0054	0.0044	0.0086	0.0037	0.0037	0.0035	0.0039	0.0100	0.0034	0.0033	0.0077	0.0069	0.0008	0.0044	0.0051	0.0026	0.0004	0.0036	0.0068	0.0050	0.0028	0.0100	.	.	.	0.041	0.50514	D	0.849	0.46879	P	0.365	0.43339	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.26	0.87352	D	-0.4	0.13805	N	0.116	0.10483	-0.6847	0.61155	T	0.251	0.62084	T	9	0.0036010146	0.00065	T	0.104126	0.77854	D	0.270	0.58507	.	.	0.697239321783	0.69462	0.007627720905088571	0.00728	.	.	.	.	.	0.076672	0.35474	T	-0.469164	0.00860	T	-0.44129	0.28663	T	0.010737814249742	0.00151	T	0.476352	0.14285	T	0.12908445	0.30160	0.040439036	0.04369	0.12908445	0.30160	0.040439036	0.04369	-7.173	0.55288	T	.	.	.	.	.	.	.	2.146961	0.27346	17.43	0.75205302839743293	0.10985	0.01364	0.04664	N	AEFBI	0.049265	0.08492	N	-0.788173667058696	0.13618	0.6721469	-0.880615633530191	0.12553	0.6464123	1.39743105871845E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.68	1.3	0.20778	1.970000	0.40144	-0.586000	0.08350	-0.125000	0.13442	0.056000	0.21631	0.003000	0.18671	0.022000	0.11911	0.2489:0.1691:0.413:0.1691	1.009	0.01400	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.005435	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	986.33	44	chr4	87613246	.	C	T	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=807;ExcessHet=0;FS=8.315;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.703;SOR=0.242	GT:AD:DP:GQ:PL	0/1:62,40:102:99:1000,0,1579	18	0	1	0
chr4	87614674	87614674	G	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon5:c.G2012A:p.S671N	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	838	678	6	0	0	6	0.00440529	.	.	.	981478	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.223	.	.	0.00419329	0.0046	0.0013	0.0024	0	0	0.0096	0	0.0005	0.0013325	206	154602	rs200839637	0.0097	0.0094	0.0099	0.0095	0.0114	0.0096	0.0095	0.0112	0.0111	0.0017	0.0091	0.0023	5.639e-05	0.0054	0.0083	0.0114	0.0087	0.0011	0.0075	0.0076	0.0080	0.0070	0.0122	0.0072	0.0070	0.0115	0.0112	0.0020	0	0.0115	0.0017	0	0.0035	0	0.0122	0.0047	0.0006	.	.	.	0.02	0.58613	D	0.97	0.56973	D	0.696	0.54017	P	.	.	.	.	0.949938	0.26521	N	0	0.06538	N	-2.29	0.87591	D	-0.62	0.18248	N	0.151	0.15469	-0.3154	0.74551	T	0.575	0.84639	D	9	0.0046225786	0.00096	T	.	.	.	0.223	0.52023	.	.	0.695313823607	0.69269	4.7231894002254537E-4	0.00043	.	.	.	.	.	0.077034	0.35561	T	-0.445753	0.01196	T	-0.402682	0.33073	T	0.024889325772433	0.01258	T	0.289271	0.05243	T	0.21238178	0.43588	0.23768647	0.49073	0.21238178	0.43588	0.23768647	0.49071	-6.484	0.50163	T	.	.	.	.	.	.	.	1.327723	0.17323	13.10	0.54694675023959471	0.05189	0.16020	0.19193	N	AEFGBCI	0.066007	0.12904	N	-0.299982378011202	0.29150	1.613941	-0.44165611348653	0.23787	1.299006	0.411513737354503	0.20216	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.567339	0.31927	0	.	.	2.54	2.54	0.29674	0.290000	0.18731	3.319000	0.37529	0.292000	0.18798	0.001000	0.13787	0.476000	0.25077	0.082000	0.17360	0.0:0.0:1.0:0.0	11.287	0.48462	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	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	0.015366	0.011905	0.011905	0.008696	0.000000	0.000000	0.030120	0.010870	0.02632	1137.33	33	chr4	87614674	.	G	A	1137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.814;DP=953;ExcessHet=0;FS=6.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.78;MQRankSum=-0.889;QD=16.25;ReadPosRankSum=-1.433;SOR=1.272	GT:AD:DP:GQ:PL	0/1:32,38:70:99:1151,0,821	18	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	5164.61	38	chr4	87615730	.	ATAG	*	5164.61	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.227;DP=777;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.46;MQRankSum=-3.184;QD=9.56;ReadPosRankSum=1.92;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,18:40:99:.:.:644,0,834:.	5	3	10	1
chr4	87615731	87615731	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	147	40	1	11	27	50	0.223301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	118.42	38	chr4	87615731	.	T	*	118.42	.	AC=29;AF=0.763;AN=38;DP=779;ExcessHet=4.0268;FS=1.141;InbreedingCoeff=-0.2667;MLEAC=29;MLEAF=0.763;MQ=58.33;QD=0.23;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,18:40:99:.:.:644,0,834:.	1	11	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	4778.36	38	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4778.36	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.944;DP=851;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.45;MQRankSum=-3.184;QD=9.26;ReadPosRankSum=2.06;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,18:40:99:.:.:644,0,834:.	5	3	10	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4363.69	55	chr4	87615936	.	A	*	4363.69	.	AC=7;AF=0.25;AN=28;BaseQRankSum=-0.285;DP=451;ExcessHet=1.1125;FS=2.305;InbreedingCoeff=0.0232;MLEAC=9;MLEAF=0.321;MQ=55.7;MQRankSum=-2.72;QD=12.22;ReadPosRankSum=-1.255;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,21:48:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:719,0,1074:87615920	9	2	3	5
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	2510.01	55	chr4	87615956	.	T	*	2510.01	.	AC=7;AF=0.269;AN=26;BaseQRankSum=3.63;DP=394;ExcessHet=0.6653;FS=4.584;InbreedingCoeff=0.1064;MLEAC=9;MLEAF=0.346;MQ=53.66;MQRankSum=-2.052;QD=8.34;ReadPosRankSum=-0.124;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,21:48:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:719,0,1074:87615920	8	2	3	6
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	2047.43	55	chr4	87615962	.	C	*	2047.43	.	AC=7;AF=0.269;AN=26;BaseQRankSum=1.18;DP=371;ExcessHet=0.2598;FS=7.159;InbreedingCoeff=0.1738;MLEAC=9;MLEAF=0.346;MQ=53.6;MQRankSum=-2.771;QD=7.45;ReadPosRankSum=-1.016;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,21:48:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:719,0,1074:87615920	8	2	3	6
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	981.28	55	chr4	87615971	.	C	*	981.28	.	AC=7;AF=0.318;AN=22;BaseQRankSum=1.61;DP=354;ExcessHet=0.0418;FS=2.739;InbreedingCoeff=0.2051;MLEAC=10;MLEAF=0.455;MQ=55.08;MQRankSum=1.04;QD=4.34;ReadPosRankSum=-1.15;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,21:48:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:719,0,1074:87615920	6	2	3	8
chr4	87615974	87615974	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2188	63.98	55	chr4	87615974	.	C	*	63.98	.	AC=7;AF=0.219;AN=32;BaseQRankSum=0;DP=340;ExcessHet=0.0735;FS=0.516;InbreedingCoeff=0.248;MLEAC=9;MLEAF=0.281;MQ=50.01;MQRankSum=1.65;QD=0.31;ReadPosRankSum=0;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,21:48:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:719,0,1074:87615920	11	2	3	3
chr4	87616019	87616028	CAGCAGCAAT	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	877.71	61	chr4	87616019	.	CAGCAGCAAT	*	877.71	.	AC=5;AF=0.179;AN=28;DP=392;ExcessHet=0.0295;FS=0.482;InbreedingCoeff=0.3156;MLEAC=6;MLEAF=0.214;MQ=50.45;QD=3.82;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,21:57:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:774,0,1448:87615920	10	1	3	5
chr4	87616046	87616046	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	1014	481	12	14	1	41	0.0399202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	839.57	61	chr4	87616046	.	C	*	839.57	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-0.517;DP=479;ExcessHet=0.0154;FS=1.009;InbreedingCoeff=0.3193;MLEAC=6;MLEAF=0.2;MQ=53.38;MQRankSum=-0.366;QD=3.62;ReadPosRankSum=-0.171;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,21:57:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:774,0,1448:87615920	11	1	3	4
chr4	87616061	87616061	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	848.5	61	chr4	87616061	.	T	*	848.5	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.914;DP=485;ExcessHet=0.0678;FS=0;InbreedingCoeff=0.1824;MLEAC=9;MLEAF=0.563;MQ=54.94;MQRankSum=0;QD=3.66;ReadPosRankSum=1.32;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,21:57:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:774,0,1448:87615920	4	1	3	11
chr4	87616064	87616109	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	802.61	61	chr4	87616064	.	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	*	802.61	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.732;DP=494;ExcessHet=0.0234;FS=0;InbreedingCoeff=0.1263;MLEAC=8;MLEAF=0.5;MQ=55.85;MQRankSum=0.137;QD=3.47;ReadPosRankSum=1.8;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,21:57:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:774,0,1448:87615920	4	1	3	11
chr4	88262639	88262639	A	T	exonic	PPM1K	.	nonsynonymous SNV	PPM1K:NM_152542:exon7:c.T1075A:p.F359I	.	432	1089	1	0	0	1	0.000458926	.	.	.	1042970	Maple_syrup_urine_disease,_mild_variant|not_specified	MONDO:MONDO:0014057,MedGen:C3554575,OMIM:615135,Orphanet:511|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.0107922884151	.	0.000599042	8.259e-05	0	0	0	0	6.009e-05	0	0.0004	8.41e-05	13	154602	rs149239581	4.857e-05	4.857e-05	3.948e-05	5.775e-05	0.0003	3.926e-05	3.605e-05	0.0002	0.0002	0	0	0	0	0	0.0003	3.237e-05	8.279e-05	0.0003	5.909e-05	5.906e-05	6.425e-05	5.37e-05	0.0006	3.075e-05	2.208e-05	0.0002	9.003e-05	0	0	0	0	0	0	0	5.88e-05	0.0009	0.0006	.	.	.	0.186	0.28860	T	0.842	0.46562	P	0.397	0.44399	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.79	0.46772	L	.	.	.	.	.	.	0.337	0.48134	-1.1029	0.03758	T	0.044	0.18989	T	10	0.0653106	0.08793	T	0.010792	0.27726	T	0.188	0.46444	.	.	0.321108458156	0.31720	0.5995945173986417	0.59890	0.675708907867	0.59721	0.685662508011	0.65082	T	0.195604	0.55173	T	-0.155037	0.27526	T	-0.160152	0.58339	T	0.280202925205231	0.24180	T	0.782722	0.44691	T	0.2459458	0.47558	0.26094437	0.51865	0.2459458	0.47558	0.26094437	0.51864	-2.103	0.03597	T	.	.	0.148	0.46061	B	.;.;.	.;.;.	4.119669	0.61562	24.4	0.9876005310018755	0.45800	0.96898	0.71543	D	AEFBI	0.818633	0.73984	D	0.265232907150045	0.54397	3.605294	0.337420904785853	0.57753	3.942316	0.999901317746302	0.45458	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	4.09	4.09	0.47038	7.016000	0.76135	10.816000	0.83832	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.007	0.58115	670	0.60992	.;PPM-type phosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1715.33	34	chr4	88262639	.	A	T	1715.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.76;DP=773;ExcessHet=0;FS=2.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.777;SOR=0.699	GT:AD:DP:GQ:PL	0/1:75,72:147:99:1729,0,1929	18	0	1	0
chr4	90309329	90309329	T	A	exonic	CCSER1	.	nonsynonymous SNV	CCSER1:NM_001145065:exon2:c.T1045A:p.L349I,CCSER1:NM_001377987:exon2:c.T1045A:p.L349I,CCSER1:NM_207491:exon2:c.T1045A:p.L349I	.	432	1084	5	1	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0071	0.00399361	0.0066	0.0013	0.0058	0	0.0071	0.0093	0.0056	0.0030	0.0067528	1044	154602	rs72659490	0.0091	0.0091	0.0092	0.0089	0.0107	0.0089	0.0089	0.0105	0.0104	0.0016	0.0067	0.0004	0	0.0056	0.0045	0.0107	0.0074	0.0029	0.0070	0.0071	0.0072	0.0069	0.0106	0.0067	0.0066	0.0094	0.0092	0.0021	0.0175	0.0106	0	0.0002	0.0074	0	0.0101	0.0109	0.0046	0.096	0.32296	T	0.485	0.11725	T	0.16	0.39849	B	0.033	0.38699	B	0.998735	0.07980	N	0.999489	1	0.08975	N	2.14	0.59869	M	1.43	0.46412	T	-0.35	0.12847	N	0.213	0.31590	-1.0507	0.14203	T	0.034	0.14596	T	10	0.0044575334	0.00091	T	.	.	.	0.042	0.11227	.	.	0.16115917748	0.15686	0.20811046176399295	0.20727	0.0871274837111	0.09826	0.349287062883	0.17817	T	0.008017	0.07382	T	-0.614097	0.00120	T	-0.643853	0.09391	T	0.0105239010219954	0.00146	T	0.79802	0.44234	T	0.045462437	0.07445	0.045561053	0.06158	0.045462437	0.07445	0.045561053	0.06158	-4.194	0.26780	T	.	.	0.083	0.12084	B	.;.	.;.	1.843976	0.23424	16.01	0.8753064888081018	0.17294	0.78198	0.38545	D	AEFI	0.111547	0.22082	N	-0.820837695854813	0.12778	0.6250902	-0.815703350838741	0.14115	0.7358696	2.59438768962372E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.63	0.478	0.16000	1.605000	0.36426	1.167000	0.24596	-0.255000	0.07062	0.950000	0.33075	0.983000	0.30585	0.227000	0.22653	0.1332:0.0757:0.1386:0.6525	3.550	0.07398	928	0.17405	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.025253	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1549.33	34	chr4	90309329	.	T	A	1549.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.616;DP=773;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.122;SOR=0.76	GT:AD:DP:GQ:PL	0/1:80,60:140:99:1563,0,2208	18	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	4800.47	119	chr4	99318097	.	C	G	4800.47	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-2.037;DP=2929;ExcessHet=25.4433;FS=292.214;InbreedingCoeff=-0.7674;MLEAC=17;MLEAF=0.472;MQ=59.96;MQRankSum=0;QD=2.15;ReadPosRankSum=0.505;SOR=13.638	GT:AD:DP:GQ:PL	0/1:84,65:149:99:503,0,1343	2	0	16	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4767.86	165	chr4	99347057	.	C	G	4767.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.37;DP=2499;ExcessHet=31.086;FS=313.504;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=59.98;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.377;SOR=11.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,43:114:99:.:.:371,0,1287:.	2	0	17	0
chr4	99347122	99347122	C	T	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G143A:p.R48H	.	422	1094	6	0	0	6	0.00273473	.	.	.	721133	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0043	0.00199681	0.0013	0.0114	0.0008	0.0001	0	0.0005	0	0	0.0012354	191	154602	rs35385902	0.0006	0.0006	0.0006	0.0005	0.0132	0.0006	0.0005	0.0122	0.0118	0.0132	0.0007	0.0002	2.521e-05	0.0001	0.0016	0.0002	0.0013	0.0001	0.0038	0.0038	0.0038	0.0037	0.0125	0.0035	0.0034	0.0116	0.0112	0.0125	0	0.0010	0.0009	0.0004	9.439e-05	0	0.0004	0.0024	0.0002	.	.	.	1.0	0.01155	T	0.007	0.14184	B	0.007	0.12992	B	.	.	.	.	.	.	.	-0.94	0.01278	N	.	.	.	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.010588706	0.00235	T	.	.	.	.	.	.	.	0.476676017676	0.47298	0.33889828639581815	0.33802	.	.	0.261800974607	0.05107	T	0.020103	0.15887	T	-0.317101	0.07137	T	-0.217882	0.52940	T	.	.	.	0.930507	0.74412	D	0.1577353	0.35526	0.15297206	0.35967	0.1577353	0.35525	0.15297206	0.35966	0.321	0.00253	T	.	.	0.114	0.28027	B	.;.;.	.;.;.	2.418932	0.31099	18.64	0.089780479653707959	0.00082	0.68716	0.33908	D	AEFI	0.538583	0.55592	D	.	.	.	.	.	.	7.40185336104525E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.8	2.95	0.33285	2.248000	0.42812	-0.205000	0.10907	0.549000	0.26987	0.975000	0.34726	0.000000	0.08366	0.491000	0.28814	0.0:0.8242:0.0:0.1758	9.954	0.40828	625	0.65529	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal;Alcohol dehydrogenase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1958.33	51	chr4	99347122	.	C	T	1958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.72;DP=912;ExcessHet=0;FS=2.051;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=1.45;SOR=0.546	GT:AD:DP:GQ:PL	0/1:69,84:153:99:1972,0,1554	18	0	1	0
chr4	99622820	99622820	C	T	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_001300785:exon18:c.C2738T:p.P913L,MTTP:NM_000253:exon19:c.C2657T:p.P886L	Abetalipoproteinemia, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	296398	MTTP-related_disorder|Inborn_genetic_diseases|Abetalipoproteinaemia|not_provided	.|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.082	0.0253768387035	0.0003	.	0.0002	9.61e-05	0.0002	0	0	0.0004	0	6.056e-05	0.0002587	40	154602	rs144600401	0.0005	0.0005	0.0006	0.0005	0.0029	0.0005	0.0005	0.0019	0.0015	0.0002	0.0003	0.0011	2.519e-05	5.616e-05	0.0029	0.0006	0.0006	8.115e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	7.221e-05	0	0.0003	0.0009	0	0	0.0068	0.0005	0.0005	0	0.181	0.32769	T	0.01	0.65728	D	0.026	0.19406	B	0.005	0.11217	B	0.043105	0.23772	N	0.499250	1	0.08975	N	2.52	0.73523	M	0.11	0.61208	T	-0.33	0.12472	N	0.052	0.02366	-0.9265	0.44645	T	0.161	0.49665	T	10	0.031935483	0.01335	T	0.025377	0.48351	D	0.082	0.23913	.	.	0.672909758257	0.67014	0.20884046430089293	0.20800	0.273407965456	0.29839	0.358102440834	0.19109	T	0.171644	0.51985	T	-0.459746	0.00987	T	-0.548738	0.17447	T	0.0497999919415024	0.05466	T	0.716728	0.32905	T	0.028773226	0.02268	0.04093825	0.04540	0.028773226	0.02267	0.04093825	0.04539	-4.141	0.25892	T	.	.	0.096	0.15296	B	.;.;.	.;.;.	1.995934	0.25356	16.73	0.96599254855257788	0.30402	0.30981	0.24221	N	AEFBI	0.493814	0.52987	N	-0.579392919917468	0.19571	1.025358	-0.540166097131328	0.21067	1.137951	0.99350415754891	0.33241	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	6.16	4.44	0.53164	3.405000	0.52379	2.165000	0.31010	-0.805000	0.03119	0.754000	0.29177	0.033000	0.21346	0.027000	0.12703	0.1253:0.7425:0.0:0.1321	8.268	0.30987	924	0.18029	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	1513.33	33	chr4	99622820	.	C	T	1513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.432;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.05;SOR=0.693	GT:AD:DP:GQ:PL	0/1:66,66:132:99:1527,0,1529	18	0	1	0
chr4	101196010	101196010	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G165C:p.R55S,PPP3CA:NM_001130691:exon2:c.G165C:p.R55S,PPP3CA:NM_001130692:exon2:c.G165C:p.R55S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.542	0.353534218001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.017	0.83351	D	0.998	0.73220	D	0.966	0.71341	D	0.000004	0.62929	D	0.056881	0.999911	0.81001	D	3.325	0.90780	M	3.38	0.70365	T	-3.07	0.88065	D	0.939	0.94550	0.145	0.84969	D	0.589	0.85259	D	10	0.5369051	0.63499	D	0.353534	0.92331	D	0.542	0.80901	0.434	0.48500	0.966502697184	0.96614	0.9224824476460386	0.92225	2.40020819914	0.97175	0.78887450695	0.80271	T	0.798026	0.94820	D	0.316579	0.84226	D	0.216967	0.84021	D	0.9861741065979	0.76962	D	0.997517	0.98983	D	0.96387434	0.97668	0.8698088	0.92852	0.96387434	0.97668	0.8698088	0.92853	-3.337	0.99288	T	0.927214547401517	0.96958	0.982	0.97319	P	.;.;.;.;.;.	.;.;.;.;.;.	2.607304	0.33856	19.46	0.98219283723808459	0.39281	0.55150	0.29792	D	AEFBI	0.165597	0.29210	N	0.14515803016552	0.48582	3.068794	0.0200804544599741	0.40649	2.429266	0.99974081000684	0.42466	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	2.0	0.25495	-0.541000	0.06187	0.576000	0.19656	-0.172000	0.11096	0.180000	0.24064	0.998000	0.33993	0.994000	0.71098	0.0:0.5748:0.0:0.4252	10.653	0.44850	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	96.56	33	chr4	101196010	.	C	G	96.56	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-5.87;DP=1486;ExcessHet=0;FS=161.508;InbreedingCoeff=-0.059;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0.536;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,16:169:99:.:.:107,0,6240:.	16	0	1	2
chr4	101196011	101196011	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G164C:p.R55T,PPP3CA:NM_001130691:exon2:c.G164C:p.R55T,PPP3CA:NM_001130692:exon2:c.G164C:p.R55T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.243660755304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.021	0.79402	D	0.998	0.73220	D	0.975	0.73362	D	0.000004	0.62929	D	0.056881	0.999999	0.81001	D	3.325	0.90780	M	3.41	0.70365	T	-3.5	0.88148	D	0.874	0.87157	0.511	0.90696	D	0.660	0.88193	D	10	0.82876897	0.82046	D	0.243661	0.88811	D	0.561	0.82003	0.413	0.45052	0.874410110515	0.87318	0.9160898921350675	0.91583	2.69341285729	0.98560	0.813101530075	0.83969	D	0.783131	0.94293	D	0.365848	0.87692	D	0.287739	0.87534	D	0.98066520690918	0.73482	D	0.997593	0.99042	D	0.93468946	0.94708	0.8180235	0.89412	0.93468946	0.94709	0.8180235	0.89413	-3.957	0.99447	T	0.7273859440343144	0.80888	0.972	0.95832	P	.;.;.;.;.;.	.;.;.;.;.;.	4.473321	0.69731	25.4	0.96904989471550151	0.31554	0.98495	0.83383	D	AEFBI	0.911333	0.87045	D	0.976696518006935	0.94982	13.20586	0.918319001961986	0.96323	14.55806	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	577.3	184	chr4	101196011	.	C	G	577.3	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.731;DP=2361;ExcessHet=0.7564;FS=238.355;InbreedingCoeff=-0.3579;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.57;SOR=10.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,28:169:99:.:.:328,0,4665:.	3	0	4	12
chr4	113354145	113354145	C	T	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001148:exon38:c.C5527T:p.P1843S	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0134678497429	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs761560238	3.42e-06	3.42e-06	1.361e-06	5.5e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.14743	T	0.143	0.33219	T	.	.	.	.	.	.	0.056358	0.22567	N	0.322809	1	0.22451	N	-0.805	0.01590	N	-0.1	0.64445	T	-1.44	0.35399	N	0.054	0.02559	-1.0579	0.12286	T	0.073	0.29483	T	9	0.029613584	0.01088	T	0.013468	0.32898	T	0.052	0.14661	.	.	0.082315109003	0.07666	0.0350006402153922	0.03447	0.0809506791772	0.09113	0.259405314922	0.04820	T	0.321634	0.69271	T	-0.356698	0.04320	T	-0.653294	0.08724	T	0.0357107553522778	0.02930	T	0.724428	0.33821	T	0.030661717	0.02769	0.048833612	0.07336	0.030661717	0.02769	0.048833612	0.07335	-1.837	0.02622	T	0.1764103716628883	0.22509	0.068	0.02927	B	.;.	.;.	-0.084575	0.03735	0.771	0.7969208139590036	0.12857	0.01723	0.05455	N	AEFGBI	0.053164	0.09554	N	-1.24289808755377	0.04393	0.1982051	-1.23377417811734	0.05376	0.2559736	0.999989177514296	0.51787	0.562547	0.31514	0	0.491513	0.07743	0	0.608884	0.39905	0	0.542086	0.14980	0	.	.	5.96	-4.37	0.03381	-0.185000	0.09679	-2.384000	0.03821	-0.182000	0.10109	0.003000	0.16062	0.000000	0.08366	0.969000	0.54022	0.1976:0.348:0.0917:0.3627	1.635	0.02574	643	0.63827	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	3548.33	59	chr4	113354145	.	C	T	3548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.1;DP=1237;ExcessHet=0;FS=5.544;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.816;SOR=0.458	GT:AD:DP:GQ:PL	0/1:153,129:282:99:3562,0,3985	18	0	1	0
chr4	119271801	119271801	G	C	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1788C:p.K596N,USP53:NM_001371397:exon14:c.G1941C:p.K647N,USP53:NM_001371399:exon14:c.G1941C:p.K647N,USP53:NM_001371398:exon15:c.G1941C:p.K647N,USP53:NM_019050:exon15:c.G1941C:p.K647N,USP53:NM_001371395:exon16:c.G1941C:p.K647N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0273671481651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.025	0.56192	D	0.998	0.73220	D	0.82	0.59072	P	0.035464	0.24640	N	0.405874	0.786313	0.34330	D	2.585	0.75554	M	0.48	0.55945	T	-1.65	0.39503	N	0.403	0.44379	-0.4066	0.71818	T	0.243	0.61142	T	10	0.2934904	0.46923	T	0.027367	0.50187	D	0.112	0.31546	0.179	0.08626	0.68695168648	0.68427	0.14079476716113953	0.14002	0.636712139675	0.57440	0.475926458836	0.35496	T	0.095754	0.39686	T	-0.159747	0.26799	T	-0.467242	0.25814	T	0.965206325054169	0.67194	D	0.876112	0.58827	D	0.22674352	0.45361	0.18983121	0.42352	0.22674352	0.45362	0.18983121	0.42351	-6.968	0.53800	T	.	.	0.529	0.65890	A	.;.	.;.	3.288410	0.45089	22.1	0.99870641327622545	0.94815	0.94427	0.61130	D	AEFDBI	0.426737	0.49097	N	0.437979510911287	0.63525	4.587841	0.405475257690823	0.61905	4.397378	0.999808580347288	0.43304	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.47	3.71	0.41733	1.781000	0.38274	2.576000	0.33390	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2234:0.0:0.7766:0.0	9.652	0.39066	546	0.72524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	99.72	80	chr4	119271801	.	G	C	99.72	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-4.307;DP=2193;ExcessHet=0.119;FS=222.232;InbreedingCoeff=-0.1772;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.76;SOR=10.087	GT:AD:DP:GQ:PL	0/1:92,32:124:61:61,0,2135	10	0	2	7
chr4	121157144	121157144	C	G	exonic	TNIP3	.	nonsynonymous SNV	TNIP3:NM_024873:exon4:c.G313C:p.E105Q,TNIP3:NM_001128843:exon7:c.G523C:p.E175Q,TNIP3:NM_001244764:exon7:c.G544C:p.E182Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0104334212785	.	.	4.945e-05	0	0	0	0	4.498e-05	0	0.0002	3.84e-05	1	26028	.	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0001	8.31e-06	6.7e-06	7.997e-05	6.236e-05	0	0	0	0	0	0	4.497e-06	3.312e-05	0.0001	6.577e-06	6.57e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.033	0.44358	D	0.059	0.57587	T	0.958	0.54977	D	0.587	0.50368	P	0.145765	0.18135	N	0.515844	1	0.08975	N	2.215	0.62545	M	0.04	0.62051	T	-1.75	0.42763	N	0.179	0.19325	-0.7901	0.55724	T	0.253	0.62258	T	9	0.10496065	0.19377	T	0.010433	0.26958	T	0.087	0.25287	0.147	0.05039	0.656780015411	0.65391	0.20540920449884273	0.20457	0.370947433629	0.38600	0.434640139341	0.29844	T	0.092838	0.39087	T	-0.389788	0.02699	T	-0.52338	0.19953	T	0.213995411992073	0.21159	T	0.527047	0.17380	T	0.18702467	0.40138	0.13383405	0.32084	0.18702467	0.40137	0.13383405	0.32083	-6.351	0.49275	T	.	.	0.104	0.22208	B	.;.;.	.;.;.	1.931853	0.24540	16.43	0.9821701497292914	0.39263	0.15762	0.19069	N	ALL	0.107922	0.21486	N	-0.548081713784275	0.20544	1.083776	-0.819051884570318	0.14034	0.73121	0.999999784685169	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.378051	0.06126	2	0.621717	0.48901	0	.	.	0.69	0.69	0.17203	0.251000	0.18025	1.163000	0.24567	0.549000	0.26987	0.001000	0.13787	0.015000	0.20450	0.028000	0.12845	.	.	.	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1246.33	40	chr4	121157144	.	C	G	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.369;DP=757;ExcessHet=0;FS=2.338;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.387;SOR=0.932	GT:AD:DP:GQ:PL	0/1:68,53:121:99:1260,0,1702	18	0	1	0
chr4	125415696	125415696	G	A	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon6:c.G6733A:p.V2245I,FAT4:NM_001291303:exon6:c.G6733A:p.V2245I,FAT4:NM_024582:exon6:c.G6733A:p.V2245I	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	433	1088	1	0	0	1	0.000459348	.	.	.	438832	FAT4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.328	.	0.0059	0.00339457	0.0014	0.0155	0.0003	0	0	4.5e-05	0	0.0001	0.0012872	199	154602	rs112971995	0.0004	0.0004	0.0005	0.0004	0.0155	0.0004	0.0004	0.0144	0.0139	0.0155	0.0005	0	0	0	0.0012	1.079e-05	0.0012	9.275e-05	0.0039	0.0039	0.0039	0.0039	0.0136	0.0037	0.0036	0.0126	0.0123	0.0136	0	0.0016	0	0	0	0	0	0.0028	0.0002	0.115	0.28520	T	0.013	0.63109	D	0.998	0.73220	D	0.997	0.86255	D	0.126960	0.18785	N	0.262455	0.999991	0.58761	D	1.25	0.31749	L	0.23	0.59717	T	-0.3	0.11913	N	0.295	0.33360	-0.5546	0.66611	T	0.219	0.58189	T	10	0.006260574	0.00141	T	.	.	.	0.328	0.65026	.	.	0.457320397359	0.45357	0.24431743082733648	0.24345	0.586606995313	0.54252	0.416295588017	0.27327	T	0.073427	0.34696	T	-0.462474	0.00949	T	-0.424765	0.30529	T	0.0348327328745323	0.02780	T	0.782222	0.41780	T	0.03913729	0.05346	0.05354215	0.09040	0.04528172	0.07385	0.05415989	0.09261	-5.417	0.42398	T	.	.	0.088	0.11558	B	.;.	.;.	2.763384	0.36256	20.2	0.99316109757652127	0.59204	0.98697	0.85708	D	AEFBI	0.786784	0.71676	D	0.383447214808693	0.60524	4.24233	0.25131815672406	0.52723	3.44537	0.982309050776757	0.30380	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.47	4.63	0.57175	6.698000	0.74433	7.543000	0.60123	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	0.0717:0.0:0.9283:0.0	14.265	0.65662	928	0.17405	Cadherin-like|Cadherin-like;.	.	.	.	.	.	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	0.004028	0.005051	0.005435	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	3064.33	49	chr4	125415696	.	G	A	3064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.066;DP=1212;ExcessHet=0;FS=2.882;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.869;SOR=0.891	GT:AD:DP:GQ:PL	0/1:122,123:245:99:3078,0,3051	18	0	1	0
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H,PABPC4L:NM_001363585: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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	488.94	75	chr4	134199956	.	C	T	488.94	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-1.052;DP=1203;ExcessHet=2.0135;FS=205.961;InbreedingCoeff=-0.2737;MLEAC=7;MLEAF=0.233;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=0;SOR=7.589	GT:AD:DP:GQ:PL	0/1:50,16:66:31:31,0,790	9	0	6	4
chr4	139889929	139889930	GC	0	exonic	MAML3	.	.	.	.	347	263	251	659	2	1571	0.748926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	68586.8	146	chr4	139889929	.	GC	*	68586.8	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.877;DP=2589;ExcessHet=8.9063;FS=0.59;InbreedingCoeff=-0.4074;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=0;QD=28.06;ReadPosRankSum=0.071;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,57:107:99:.:.:2142,0,3077:.	18	0	1	0
chr4	139889931	139889942	TGCTGCTGCTGC	0	exonic	MAML3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	67721.1	137	chr4	139889931	.	TGCTGCTGCTGC	*	67721.1	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.148;DP=2624;ExcessHet=8.9063;FS=1.221;InbreedingCoeff=-0.4074;MLEAC=1;MLEAF=0.026;MQ=59.96;MQRankSum=0;QD=27.77;ReadPosRankSum=0.464;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,57:107:99:.:.:2142,0,3077:.	18	0	1	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	7878.87	96	chr4	140563137	.	C	G	7878.87	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.322;DP=1983;ExcessHet=31.086;FS=206.252;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0;SOR=12.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,32:96:99:0|1:140563137_C_G:360,0,1982:140563137	2	0	17	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	9144.3	96	chr4	140563138	.	C	G	9144.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.858;DP=1991;ExcessHet=38.2876;FS=239.142;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=-0.093;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,32:96:99:0|1:140563137_C_G:360,0,1982:140563137	1	0	18	0
chr4	157335735	157335735	G	C	exonic	GRIA2	.	nonsynonymous SNV	GRIA2:NM_000826:exon10:c.G1331C:p.G444A,GRIA2:NM_001083619:exon10:c.G1331C:p.G444A,GRIA2:NM_001083620:exon10:c.G1190C:p.G397A,GRIA2:NM_001379000:exon10:c.G1190C:p.G397A,GRIA2:NM_001379001:exon10:c.G1190C:p.G397A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.825	0.272931181032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0035	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0010	4.489e-05	0.0003	0.0002	0	0.0009	0.0013	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.028	0.54934	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.575	0.99193	H	-2.39	0.88377	D	-5.39	0.85176	D	0.98	0.99100	1.031	0.97738	D	0.911	0.97063	D	10	0.9729528	0.96956	D	0.272931	0.89948	D	0.825	0.94428	0.887	0.97178	0.946428833122	0.94586	0.9873550505668254	0.98729	1.67767398834	0.89937	0.868580937386	0.92364	D	0.828473	0.95879	D	0.456242	0.92757	D	0.417584	0.92668	D	0.998666524887085	0.94798	D	0.997738	0.99067	D	0.9104525	0.92337	0.9320738	0.97237	0.9104525	0.92338	0.9320738	0.97238	-11.149	0.81611	D	0.9158571005698944	0.96226	0.999	0.98383	P	.;.;.;.;.	.;.;.;.;.	5.109210	0.85411	28.6	0.99844824742633387	0.92489	0.99260	0.93590	D	AEFI	0.925718	0.90571	D	1.15125414042626	0.98975	20.11033	1.0769017308603	0.99639	24.64639	0.999999998911027	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	10.003000	0.99689	9.996000	0.83014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.563	0.99337	957	0.09725	.;.;.;.;Ionotropic glutamate receptor, L-glutamate and glycine-binding domain|Ionotropic glutamate receptor|Ionotropic glutamate receptor, L-glutamate and glycine-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	113.33	34	chr4	157335735	.	G	C	113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.454;DP=778;ExcessHet=0;FS=180.376;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.499;SOR=7.053	GT:AD:DP:GQ:PL	0/1:120,33:153:99:127,0,4159	18	0	1	0
chr4	163585748	163585748	C	T	splicing	MARCHF1	NM_017923:exon2:c.372+1G>A;NM_001166373:exon6:c.423+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454917	0.92700	D	0.41568	0.92610	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.395323	0.90374	31	0.99413111954673972	0.63405	0.98800	0.87016	D	AEFI	.	.	.	1.18622248501993	0.99414	22.54121	1.04388804480377	0.99310	21.83199	0.999999999999937	0.74766	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.984643	0.91959	5.57	5.57	0.84021	7.905000	0.86479	7.695000	0.65987	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:1.0:0.0:0.0	19.556	0.95339	985	0.02828	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	712.33	33	chr4	163585748	.	C	T	712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.08;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.132;SOR=0.743	GT:AD:DP:GQ:PL	0/1:25,26:51:99:726,0,687	18	0	1	0
chr4	165040278	165040278	C	T	exonic	TRIM60	.	nonsynonymous SNV	TRIM60:NM_152620:exon3:c.C206T:p.P69L,TRIM60:NM_001258025:exon4:c.C206T:p.P69L	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.00589618283078	0.0003	0.000199681	0.0001	0	0.0002	0	0	0.0002	0	0.0003	0.0001229	19	154602	rs148893149	8.14e-05	8.14e-05	5.717e-05	0.0001	0.0005	6.935e-05	6.486e-05	0.0004	0.0003	0	4.472e-05	0	0	0	0	6.295e-05	9.934e-05	0.0005	9.197e-05	9.188e-05	7.711e-05	0.0001	0.0004	5.526e-05	4.364e-05	7.29e-05	5.088e-05	0	0	0.0001	0	0.0002	0	0	0.0001	0	0.0004	0.643	0.11227	T	0.739	0.05786	T	0.0	0.02946	B	0.001	0.04355	B	0.660913	0.05979	N	1.361220	1	0.08975	N	1.185	0.30054	L	-1.73	0.83327	D	-1.44	0.50830	N	0.059	0.03283	-0.9341	0.43530	T	0.260	0.63033	T	10	0.038004518	0.02191	T	0.005896	0.15340	T	0.239	0.54358	.	.	0.126345400529	0.12197	0.2308444979470555	0.22999	0.0383716600576	0.04084	0.382441222668	0.22603	T	0.018352	0.14809	T	-0.336617	0.05626	T	-0.405148	0.32787	T	0.0098757368952685	0.00131	T	0.0475952	0.04194	T	0.024262559	0.01240	0.03669248	0.03167	0.024262559	0.01240	0.03669248	0.03166	-2.973	0.09893	T	.	.	0.148	0.32733	B	.;.;.;.;.	.;.;.;.;.	-0.502848	0.01859	0.150	0.27398135574694393	0.01358	0.00929	0.03605	N	AEFBI	0.030285	0.03017	N	-1.38804073980613	0.02749	0.1218459	-1.44282483160032	0.02836	0.1311837	1.0843844885967E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.21	-1.13	0.09274	-0.919000	0.04125	-4.966000	0.01907	-0.280000	0.06433	0.000000	0.06391	0.000000	0.08366	0.457000	0.28051	0.4097:0.2687:0.1866:0.135	1.088	0.01553	970	0.06235	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1217.33	34	chr4	165040278	.	C	T	1217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=716;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=-1.663;SOR=0.582	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1231,0,894	18	0	1	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	1481.95	34	chr4	168898669	.	G	A	1481.95	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.403;DP=1273;ExcessHet=2.9153;FS=130.099;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=2.62;ReadPosRankSum=0.622;SOR=10.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,23:101:99:.:.:206,0,1891:.	13	0	6	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1776.23	84	chr4	176711629	.	G	C	1776.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-5.364;DP=1305;ExcessHet=6.9875;FS=98.024;InbreedingCoeff=-0.3577;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=0.755;SOR=10.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,22:79:99:0|1:176711629_G_C:462,0,2085:176711629	9	0	10	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.3889	2940.87	84	chr4	176711631	.	G	C	2940.87	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-1.406;DP=1611;ExcessHet=17.0548;FS=119.901;InbreedingCoeff=-0.6179;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.04;SOR=11.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,22:79:99:0|1:176711629_G_C:462,0,2085:176711629	4	0	14	1
chr4	183446169	183446169	C	G	exonic	CDKN2AIP	.	nonsynonymous SNV	CDKN2AIP:NM_017632:exon3:c.C485G:p.S162C	.	8	1510	4	0	0	4	0.00132275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00942864954032	7.7e-05	0.000599042	0.0003	0	0	0	0	4.501e-05	0	0.0024	0.0002911	45	154602	rs143545447	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0001	0.0021	0.0020	0	0	0	0	0	0.0005	2.968e-05	0.0002	0.0023	0.0001	0.0001	5.138e-05	0.0002	0.0017	7.085e-05	5.742e-05	0.0008	0.0006	2.405e-05	0	0	0	0	0	0	0.0001	0.0005	0.0017	0.009	0.57480	D	0.009	0.66756	D	0.938	0.52538	P	0.554	0.49340	P	0.000248	0.46924	D	0.091826	0.841841	0.81001	D	0.895	0.22405	L	.	.	.	-0.16	0.09460	N	0.237	0.26717	-0.7433	0.58283	T	0.181	0.52874	T	9	0.00950107	0.00214	T	0.009429	0.24716	T	0.084	0.24469	.	.	0.102598925029	0.09809	0.1417565637501259	0.14098	0.0581086674643	0.06437	0.315012633801	0.12665	T	0.014694	0.12461	T	-0.400597	0.02295	T	-0.354064	0.38740	T	0.0692742125933921	0.08549	T	0.562644	0.19782	T	0.17269465	0.37974	0.10667628	0.25668	0.17269465	0.37974	0.10667628	0.25668	-6.19	0.47842	T	.	.	0.090	0.12655	B	.	.	3.117372	0.42069	21.5	0.84827800891114891	0.15522	0.89623	0.50206	D	AEFBC	0.208181	0.33428	N	0.160404869529123	0.49306	3.132454	0.170054647924824	0.48216	3.040419	0.999999999858595	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.33	5.33	0.75683	0.891000	0.27944	3.894000	0.40311	0.599000	0.40250	0.808000	0.29825	1.000000	0.68203	0.791000	0.37352	0.0:1.0:0.0:0.0	18.816	0.92042	932	0.16191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1965.33	39	chr4	183446169	.	C	G	1965.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=803;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.489;SOR=0.681	GT:AD:DP:GQ:PL	0/1:68,73:141:99:1979,0,1759	18	0	1	0
chr4	185190470	185190470	G	A	exonic	CFAP97	.	nonsynonymous SNV	CFAP97:NM_001292033:exon2:c.C727T:p.H243Y,CFAP97:NM_020827:exon2:c.C727T:p.H243Y	.	.	.	.	.	.	.	.	.	.	.	2390130	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0136111477757	.	0.000199681	1.675e-05	0	0	0.0002	0	0	0	0	1.94e-05	3	154602	rs538154729	6.157e-06	6.84e-06	5.445e-06	6.877e-06	5.039e-05	2.9e-06	2.1e-06	8.35e-06	3.12e-06	0	0	0	5.039e-05	0	0	0	0.0001	0	1.314e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	6.825e-05	2.856e-05	0	0	0	0	0.0004	0	0	0	0	0	0.018	0.50676	D	0.049	0.48336	D	0.75	0.46404	P	0.091	0.39112	B	0.486550	0.12105	N	0.776443	1	0.08975	N	.	.	.	1.53	0.43672	T	-0.99	0.31170	N	0.156	0.17553	-1.0725	0.08873	T	0.072	0.29259	T	10	0.04637608	0.03821	T	0.013611	0.33144	T	0.092	0.26621	0.081	0.00694	0.520161069619	0.51660	0.02486462178005328	0.02437	0.0195475417118	0.01915	0.255978107452	0.04423	T	0.026587	0.19643	T	-0.481942	0.00720	T	-0.665625	0.07892	T	0.0641346224631193	0.07802	T	0.675932	0.28448	T	0.04083222	0.05902	0.049028132	0.07407	0.04083222	0.05902	0.049028132	0.07407	-3.35	0.15642	T	.	.	0.072	0.10883	B	.;.;.	.;.;.	0.777842	0.11479	8.082	0.92902862478251869	0.22458	0.15270	0.18829	N	AEFDGBHCI	0.072971	0.14580	N	-0.635394251955741	0.17888	0.924344	-0.699859424152603	0.16964	0.8998755	0.999999925221891	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.55	3.58	0.40133	0.987000	0.29203	0.825000	0.21891	-0.179000	0.10443	0.134000	0.23411	0.002000	0.18203	0.156000	0.20513	0.0:0.6064:0.2972:0.0965	8.140	0.30241	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2256.33	35	chr4	185190470	.	G	A	2256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.84;DP=892;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.749;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,88:170:99:0|1:185190470_G_A:2270,0,3135:185190470	18	0	1	0
chr4	186709073	186709073	T	G	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.A755C:p.E252A	.	430	1091	1	0	0	1	0.000458085	.	.	.	1528791	Inborn_genetic_diseases|not_provided|FAT1-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.110	0.0174920680831	.	0.000399361	0.0001	0	0	0.0019	0	0	0	0.0001	0.0001294	20	154602	rs148204168	8.005e-05	8.003e-05	6.126e-05	9.903e-05	0.0016	6.802e-05	6.356e-05	0.0013	0.0012	0	0	0	0.0016	0	0	9.894e-06	0.0003	0.0003	0.0001	0.0001	0.0001	9.4e-05	0.0025	6.508e-05	5.32e-05	0.0015	0.0012	0	0	0	0	0.0025	0	0	2.941e-05	0	0.0002	0.072	0.39334	T	0.04	0.50809	D	0.002	0.09854	B	0.005	0.11217	B	0.000838	0.41547	N	0.266298	0.999991	0.58761	D	1.485	0.37223	L	0.11	0.61208	T	-2.38	0.72594	N	0.153	0.16586	-0.9992	0.30143	T	0.142	0.46239	T	10	0.01473397	0.00310	T	0.017492	0.39209	T	0.110	0.31079	.	.	0.349647731962	0.34572	0.6317045486250131	0.63104	0.10228197106	0.11575	0.311010360718	0.12060	T	0.186554	0.53989	T	-0.456794	0.01029	T	-0.432294	0.29675	T	0.0412151562592894	0.03911	T	0.872413	0.57909	D	0.058967203	0.11927	0.055645693	0.09800	0.058967203	0.11927	0.055645693	0.09800	-4.694	0.33331	T	.	.	0.098	0.16054	B	.;.;.	.;.;.	0.800700	0.11711	8.292	0.96479864085394595	0.29967	0.78530	0.38757	D	AEFDGBCI	0.351881	0.44484	N	-0.702118202816283	0.15961	0.8091032	-0.748516579472063	0.15758	0.8303866	0.999830236069582	0.43792	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	5.04	-0.244	0.12388	1.866000	0.39127	-0.087000	0.12105	0.609000	0.47794	0.758000	0.29220	0.000000	0.08366	0.031000	0.13245	0.0:0.2091:0.1294:0.6616	5.846	0.17917	946	0.12043	Cadherin-like;Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2811.33	40	chr4	186709073	.	T	G	2811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=2142;ExcessHet=0;FS=3.173;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-2.146;SOR=0.815	GT:AD:DP:GQ:PL	0/1:101,100:201:99:2825,0,2807	18	0	1	0
chr4	188091662	188091662	G	A	exonic	TRIML2	.	nonsynonymous SNV	TRIML2:NM_001303419:exon8:c.C1100T:p.T367M,TRIML2:NM_173553:exon8:c.C1025T:p.T342M	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0025	0.00379393	0.0007	0.0067	0.0003	0	0	7.499e-05	0	0.0004	0.0007633	118	154602	rs76096328	0.0003	0.0003	0.0003	0.0003	0.0092	0.0003	0.0003	0.0084	0.0080	0.0092	0.0004	0.0002	2.521e-05	0	0.0009	6.028e-05	0.0005	0.0004	0.0022	0.0022	0.0025	0.0019	0.0075	0.0020	0.0019	0.0068	0.0066	0.0075	0	0.0009	0.0003	0	0	0	0.0001	0.0009	0.0006	.	.	.	0.391	0.17014	T	.	.	.	.	.	.	0.611661	0.05704	N	1.227660	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.13341	-1.0441	0.16089	T	0.073	0.29643	T	10	0.0049636364	0.00106	T	.	.	.	0.141	0.37795	.	.	0.137902524267	0.13322	0.290359590078168	0.28948	0.103735805567	0.11741	0.213485136628	0.00968	T	0.008839	0.08085	T	-0.507772	0.00517	T	-0.496465	0.22715	T	0.00832147783685613	0.00100	T	0.707329	0.31793	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.32733	B	.;.	.;.	-0.334486	0.02470	0.286	0.52055591613253305	0.04676	0.00399	0.01994	N	AEFBI	0.036681	0.04928	N	-1.19510340240419	0.05074	0.2304517	-1.25209434186183	0.05100	0.2422155	0.594804248898594	0.21676	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.564101	0.26826	0	.	.	5.85	-3.25	0.04765	-0.622000	0.05649	-0.123000	0.11700	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6738:0.0:0.3262:0.0	12.438	0.54947	983	0.02875	.;SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	4250.33	39	chr4	188091662	.	G	A	4250.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.937;DP=998;ExcessHet=0;FS=3.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.443;SOR=0.716	GT:AD:DP:GQ:PL	0/1:130,164:294:99:4264,0,3140	18	0	1	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.1389	276.26	16	chr4	189953101	.	C	T	276.26	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-0.497;DP=358;ExcessHet=1.3;FS=1.238;InbreedingCoeff=-0.1694;MLEAC=5;MLEAF=0.139;MQ=55.06;MQRankSum=-2.435;QD=3.54;ReadPosRankSum=0.592;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,2:19:33:0|1:189953101_C_T:33,0,666:189953101	13	0	5	1
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	307.42	14	chr4	189953126	.	G	T	307.42	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.732;DP=321;ExcessHet=1.3;FS=2.88;InbreedingCoeff=-0.1524;MLEAC=5;MLEAF=0.132;MQ=54.21;MQRankSum=-2.222;QD=4.59;ReadPosRankSum=1.2;SOR=0.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,2:16:42:0|1:189953101_C_T:42,0,582:189953101	14	0	5	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	1715.13	137	chr4	189957425	.	A	G	1715.13	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.209;DP=2042;ExcessHet=2.9153;FS=2.505;InbreedingCoeff=-0.2471;MLEAC=7;MLEAF=0.194;MQ=46.97;MQRankSum=-1.588;QD=2.23;ReadPosRankSum=-0.709;SOR=0.94	GT:AD:DP:GQ:PL	0/1:65,31:96:99:575,0,1783	11	0	7	1
chr5	1798638	1798638	G	C	exonic	MRPL36	.	nonsynonymous SNV	MRPL36:NM_032479:exon2:c.C298G:p.Q100E	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.0390091900602	.	.	8.335e-06	0	0	0	0	1.51e-05	0	0	1.29e-05	2	154602	rs758373620	3.979e-05	3.967e-05	4.772e-05	3.176e-05	0.0002	3.122e-05	2.855e-05	3.556e-05	3.215e-05	2.993e-05	0	0	0	0	0.0002	4.601e-05	8.299e-05	0	5.26e-05	5.254e-05	3.856e-05	6.732e-05	0.0001	2.559e-05	1.831e-05	5.843e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.008	0.67890	D	0.997	0.70673	D	0.995	0.83170	D	0.000004	0.62929	D	0.000000	0.999958	0.52396	D	4.325	0.98363	H	.	.	.	-2.89	0.60665	D	0.818	0.81360	0.385	0.88873	D	0.574	0.84599	D	9	0.81561553	0.80804	D	0.039009	0.58559	D	0.394	0.70924	0.586	0.71371	0.136095386433	0.13204	0.46812013784364825	0.46731	0.23410116099	0.25944	0.625137686729	0.56456	T	0.545842	0.84533	D	0.222549	0.76017	D	0.0973854	0.76735	D	0.994976937770844	0.86616	D	0.89781	0.64256	D	0.9173209	0.92988	0.8202309	0.89553	0.9173209	0.92989	0.8202309	0.89553	-11.358	0.81585	D	0.8585204185430021	0.92265	0.591	0.68678	P	.;.;.;.	.;.;.;.	4.260267	0.64735	24.7	0.99293423457645991	0.58362	0.97100	0.72689	D	AEFGB	0.792574	0.72083	D	0.683698535660782	0.78563	6.897179	0.514705906208883	0.68979	5.295299	0.999999998738328	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	4.18	4.18	0.48473	6.847000	0.75201	11.259000	0.91010	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.172000	0.21044	0.0:0.0:1.0:0.0	13.496	0.60883	994	0.00715	.;.;.;.	.	.	.	.	.	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	0.000534	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	2883.33	34	chr5	1798638	.	G	C	2883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.546;DP=857;ExcessHet=0;FS=1.011;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.71;MQRankSum=-1.582;QD=12.43;ReadPosRankSum=-0.829;SOR=0.601	GT:AD:DP:GQ:PL	0/1:118,114:232:99:2897,0,3164	18	0	1	0
chr5	16481072	16481072	C	T	exonic	RETREG1	.	nonsynonymous SNV	RETREG1:NM_019000:exon3:c.G184A:p.V62M,RETREG1:NM_001034850:exon5:c.G607A:p.V203M	Neuropathy, hereditary sensory and autonomic, type IIB, Autosomal recessive	1	1502	19	0	0	19	0.00628515	.	.	.	244479	not_provided|Inborn_genetic_diseases|Neuropathy,_hereditary_sensory_and_autonomic,_type_2B	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013142,MedGen:C2751092,OMIM:613115,Orphanet:970	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.170	.	0.0033	0.00159744	0.0033	0.0009	0.0051	0	0.0018	0.0042	0.0045	0.0023	0.0034411	532	154602	rs143878016	0.0048	0.0048	0.0049	0.0047	0.0055	0.0047	0.0046	0.0054	0.0053	0.0008	0.0032	0.0004	0	0.0031	0.0024	0.0055	0.0045	0.0029	0.0030	0.0030	0.0031	0.0028	0.0050	0.0027	0.0027	0.0045	0.0044	0.0007	0	0.0033	0.0006	0	0.0015	0.0034	0.0050	0.0019	0.0027	0.066	0.36113	T	0.109	0.37449	T	0.996	0.77913	D	0.923	0.75168	D	0.000098	0.51296	D	0.135280	0.963721	0.38365	D	.	.	.	0.74	0.50459	T	-1.19	0.30346	N	0.267	0.30233	-0.7685	0.56940	T	0.178	0.52412	T	10	0.011584997	0.00253	T	.	.	.	0.170	0.43303	.	.	0.472023113445	0.46832	0.4008687952848419	0.40001	1.01671924767	0.74975	0.599503755569	0.52834	T	0.022619	0.17407	T	-0.518749	0.00447	T	-0.514616	0.20843	T	0.0150975185188845	0.00327	T	0.919808	0.70989	D	0.12491093	0.29296	0.14568304	0.34542	0.14728221	0.33676	0.16377048	0.37972	-7.131	0.54984	T	0.3694394751555748	0.46511	0.132	0.36455	B	.;.	.;.	3.980073	0.58499	24.0	0.99853363774972514	0.93279	0.31720	0.24408	N	AEFDGBI	0.162037	0.28817	N	0.229326786743082	0.52624	3.435491	0.225926690679091	0.51292	3.312884	0.999990147161625	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.95	5.08	0.68373	0.214000	0.17331	4.055000	0.41540	0.599000	0.40250	0.097000	0.22731	0.999000	0.35428	0.997000	0.79791	0.0:0.8662:0.0:0.1338	12.951	0.57797	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	913.33	40	chr5	16481072	.	C	T	913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.481;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.503;SOR=0.693	GT:AD:DP:GQ:PL	0/1:41,41:82:99:927,0,1155	18	0	1	0
chr5	35800061	35800061	G	A	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon34:c.G4924A:p.V1642M	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00976732512976	.	.	1.656e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs748939636	1.779e-05	1.779e-05	2.042e-05	1.513e-05	5.974e-05	1.237e-05	1.051e-05	1.175e-05	9.55e-06	5.974e-05	4.472e-05	0	2.519e-05	0	0	1.799e-05	0	1.159e-05	1.973e-05	2.627e-05	3.856e-05	0	4.41e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.169	0.22920	T	0.434	0.13993	T	0.089	0.27759	B	0.007	0.17743	B	0.632025	0.10678	N	0.842130	1	0.08975	N	0.905	0.23240	L	-0.01	0.62762	T	-0.38	0.14782	N	0.096	0.07673	-1.0535	0.13440	T	0.078	0.31103	T	10	0.06683037	0.09224	T	0.009767	0.25495	T	0.056	0.15993	0.533	0.64148	0.324986149311	0.32103	0.037948908525710784	0.03740	0.0300485160316	0.03099	0.248471438885	0.03608	T	0.049684	0.28379	T	-0.213804	0.18846	T	-0.462026	0.26378	T	0.0508769172976446	0.05652	T	0.648035	0.25918	T	0.045995034	0.07624	0.075492	0.16623	0.045995034	0.07624	0.075492	0.16623	-2.877	0.08925	T	.	.	0.083	0.14385	B	.;.	.;.	0.192836	0.05785	2.229	0.79110462846181406	0.12594	0.03434	0.08569	N	AEFDBI	0.056787	0.10526	N	-1.09111462255708	0.06805	0.3143611	-1.08220054435807	0.08051	0.3941767	0.989341016414723	0.31795	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.57	-0.605	0.11040	-0.301000	0.08269	-0.640000	0.08082	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.620000	0.31896	0.4991:0.0:0.3699:0.131	6.005	0.18771	725	0.54935	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	8343.81	45	chr5	35800061	.	G	A	8343.81	.	AC=2;AF=0.053;AN=38;DP=1012;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.8;SOR=0.767	GT:AD:DP:GQ:PL	1/1:0,280:280:99:8371,838,0	18	1	0	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L,NIPBL:NM_133433:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	434.77	112	chr5	36976312	.	G	C	434.77	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.913;DP=2363;ExcessHet=0.7564;FS=233.054;InbreedingCoeff=-0.3099;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=1.42;SOR=10.893	GT:AD:DP:GQ:PL	0/1:88,35:127:99:139,0,1692	5	0	4	10
chr5	53484153	53484153	G	A	exonic	FST	.	nonsynonymous SNV	FST:NM_006350:exon4:c.G581A:p.R194Q,FST:NM_013409:exon4:c.G581A:p.R194Q	.	437	1081	4	0	0	4	0.00184672	.	.	.	721477	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.351	.	0.0014	0.000998403	0.0024	0.0004	0.0010	0.0002	0.0171	0.0020	0.0044	0.0017	0.0021604	334	154602	rs150492112	0.0020	0.0020	0.0020	0.0021	0.0019	0.0020	0.0020	0.0017	0.0016	0.0003	0.0011	0.0015	2.519e-05	0.0151	0.0003	0.0016	0.0015	0.0019	0.0025	0.0025	0.0018	0.0032	0.0017	0.0023	0.0022	0.0014	0.0013	0.0004	0	0.0016	0.0020	0.0004	0.0190	0	0.0017	0.0028	0.0012	0.129	0.26852	T	0.025	0.65728	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.08	0.27187	L	1.5	0.31205	T	-1.05	0.29525	N	0.458	0.49511	-1.0872	0.06013	T	0.109	0.39415	T	10	0.007940471	0.00180	T	.	.	.	0.351	0.67234	.	.	0.803029983951	0.80118	0.7647035607185428	0.76419	1.18424234959	0.80093	0.677450060844	0.63903	T	0.381337	0.74367	T	-0.185645	0.22900	T	-0.04561	0.67322	D	0.0290403871397717	0.01844	T	0.950905	0.81262	D	0.63182575	0.74396	0.42682445	0.66446	0.63182575	0.74397	0.42682445	0.66447	-4.782	0.34380	T	.	.	0.110	0.21277	B	.;.;.	.;.;.	4.859992	0.79517	27.1	0.99952073061630431	0.99951	0.96572	0.69812	D	AEFDBCI	0.892215	0.82893	D	0.703954662704679	0.79891	7.174713	0.756866624882122	0.86669	8.963951	1.0	0.98316	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.663205	0.64265	0	.	.	6.17	6.17	0.99707	6.827000	0.75095	9.893000	0.82289	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	856	0.34373	Kazal domain|Kazal domain|Kazal domain;.;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1907.33	33	chr5	53484153	.	G	A	1907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.528;DP=749;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.631;SOR=0.772	GT:AD:DP:GQ:PL	0/1:56,77:133:99:1921,0,1248	18	0	1	0
chr5	55283210	55283210	C	G	exonic	DHX29	.	nonsynonymous SNV	DHX29:NM_019030:exon11:c.G1958C:p.G653A	.	430	1090	2	0	0	2	0.00091659	.	.	.	3953108	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.420	0.0845922924192	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0001	0.0001229	19	154602	rs201311659	7.961e-05	8.277e-05	6.63e-05	9.322e-05	0.0004	6.737e-05	6.27e-05	6.626e-05	6.179e-05	0	6.986e-05	0	0	3.843e-05	0.0004	8.041e-05	0.0002	9.826e-05	8.541e-05	8.536e-05	3.854e-05	0.0001	0.0001	4.957e-05	3.962e-05	6.803e-05	5.087e-05	0	0.0011	6.545e-05	0	0	0.0002	0	0.0001	0	0	0.018	0.50676	D	0.017	0.60337	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.355	0.91145	M	3.17	0.07599	T	-2.68	0.57275	D	0.699	0.73826	-0.9049	0.47458	T	0.031	0.13504	T	10	0.5942275	0.66550	D	0.084592	0.74358	D	0.420	0.72930	.	.	0.498259528926	0.49460	0.6804701089644118	0.67986	0.905589862971	0.70831	0.547196209431	0.45462	T	0.163722	0.50890	T	-0.10188	0.36113	T	-0.0892847	0.64216	T	0.562370181083679	0.34944	D	0.924508	0.72366	D	0.42536953	0.62447	0.37476262	0.62635	0.42536953	0.62448	0.37476262	0.62635	-9.783	0.72601	D	.	.	0.384	0.61290	A	.;.	.;.	4.609307	0.73081	25.9	0.99835345909757511	0.91628	0.99502	0.96805	D	AEFDGBI	0.883486	0.81244	D	0.573305150958809	0.71512	5.662177	0.654232072614421	0.78924	6.97566	0.999999999983705	0.74766	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	7.539000	0.80984	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.975	0.89046	491	0.76657	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2466.33	33	chr5	55283210	.	C	G	2466.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=807;ExcessHet=0;FS=1.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-1.447;SOR=0.837	GT:AD:DP:GQ:PL	0/1:93,93:186:99:2480,0,2388	18	0	1	0
chr5	59430294	59430294	C	T	exonic	PDE4D	.	nonsynonymous SNV	PDE4D:NM_001349242:exon3:c.G125A:p.R42H	Acrodysostosis 2, with or without hormone resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1687556	not_provided|PDE4D-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0009989	26	26028	rs181294274	0.0014	0.0010	0.0014	0.0014	0.0015	0.0013	0.0013	0.0014	0.0014	0.0002	0.0011	0.0022	0	0.0027	0.0003	0.0015	0.0010	0.0002	0.0013	0.0014	0.0014	0.0012	0.0020	0.0012	0.0011	0.0018	0.0017	0.0002	0	0.0011	0.0035	0	0.0024	0	0.0020	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04692307	0.03944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030068	0.21402	T	.	.	.	.	.	.	.	.	.	0.740526	0.35940	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.42097	B	.	.	4.844533	0.79118	27.0	0.81897001017793447	0.13915	0.92488	0.55829	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999867237818	0.74766	0.07523	0.01759	0	0.109994	0.03358	0	0.066767	0.01867	0	0.062806	0.01542	0	0.983189	0.89830	5.33	5.33	0.75683	3.061000	0.49656	7.490000	0.59357	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.138:0.862:0.0:0.0	15.582	0.76198	761	0.50382	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1789.33	33	chr5	59430294	.	C	T	1789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=779;ExcessHet=0;FS=1.308;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=2.64;SOR=0.566	GT:AD:DP:GQ:PL	0/1:79,67:146:99:1803,0,1933	18	0	1	0
chr5	64214012	64214012	A	G	exonic	RNF180	.	nonsynonymous SNV	RNF180:NM_001113561:exon4:c.A686G:p.H229R,RNF180:NM_001323292:exon4:c.A686G:p.H229R,RNF180:NM_178532:exon4:c.A686G:p.H229R	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00842243536273	0.0008	0.000599042	0.0006	9.73e-05	0.0002	0	0.0002	0.0007	0.0011	0.0012	0.0005951	92	154602	rs146938584	0.0010	0.0010	0.0010	0.0010	0.0012	0.0009	0.0009	0.0011	0.0011	0.0002	0.0002	0	0	9.36e-05	0.0005	0.0012	0.0007	0.0011	0.0006	0.0006	0.0007	0.0004	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0	0.0002	0	0	0	0	0.0011	0	0.0010	0.199	0.20456	T	0.521	0.19908	T	0.85	0.46913	P	0.325	0.41883	B	0.032338	0.25044	N	0.464987	0.717	0.81001	D	2.555	0.74557	M	0.92	0.44461	T	-0.89	0.27463	N	0.32	0.36043	-1.0461	0.15505	T	0.099	0.36907	T	10	0.02419126	0.00657	T	0.008422	0.22282	T	0.076	0.22200	.	.	0.693830937314	0.69119	0.15564160860775586	0.15485	0.120071493571	0.13520	0.432574391365	0.29560	T	0.007561	0.06959	T	-0.411869	0.01931	T	-0.40995	0.32230	T	0.0227644734846995	0.00996	T	0.716128	0.32863	T	0.09967187	0.23525	0.10557779	0.25383	0.09967187	0.23525	0.10557779	0.25382	-3.162	0.13698	T	.	.	0.125	0.26357	B	.;.	.;.	2.233409	0.28512	17.82	0.93697201951617815	0.23607	0.67492	0.33452	D	AEFBI	0.097531	0.19669	N	0.167482584121235	0.49642	3.162384	0.271726200897952	0.53893	3.556369	0.0132235301353204	0.12435	0.554377	0.28877	0	0.624306	0.53593	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	6.08	4.94	0.64645	2.036000	0.40786	5.513000	0.48803	0.756000	0.94297	0.957000	0.33433	1.000000	0.68203	0.998000	0.85391	0.7965:0.0:0.2035:0.0	7.671	0.27624	732	0.54084	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.000000	0.02632	2012.33	44	chr5	64214012	.	A	G	2012.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.073;DP=834;ExcessHet=0;FS=1.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.704;SOR=0.752	GT:AD:DP:GQ:PL	0/1:102,88:190:99:2026,0,2667	18	0	1	0
chr5	71560035	71560035	A	G	exonic	BDP1	.	nonsynonymous SNV	BDP1:NM_018429:exon37:c.A7294G:p.T2432A	.	12	1494	16	0	0	16	0.00532623	.	.	.	3509742	BDP1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.042	0.0046877141636	0.0003	0.000998403	0.0008	0	0.0002	0.0002	0.0005	0.0005	0.0034	0.0030	0.0006727	104	154602	rs193246924	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0004	0.0027	0.0026	2.987e-05	0.0006	0.0013	7.559e-05	0.0007	0.0035	0.0002	0.0006	0.0030	0.0004	0.0004	0.0004	0.0005	0.0025	0.0004	0.0003	0.0014	0.0011	7.22e-05	0	0.0013	0.0009	0	0.0004	0	0.0003	0.0014	0.0025	0.022	0.48642	D	0.235	0.24767	T	0.612	0.39723	P	0.197	0.36707	B	0.089060	0.20448	N	0.414227	1	0.08975	N	1.59	0.40313	L	3.65	0.04267	T	-1.66	0.39692	N	0.113	0.10056	-1.0026	0.29168	T	0.015	0.05994	T	10	0.0037195086	0.00069	T	0.004688	0.11660	T	0.042	0.11227	.	.	0.132336055621	0.12781	0.09146985494391016	0.09079	0.162580693133	0.18349	0.243296355009	0.03095	T	0.015198	0.12791	T	-0.621145	0.00108	T	-0.669623	0.07632	T	0.021548904028548	0.00859	T	0.592541	0.21854	T	0.05239237	0.09765	0.05517199	0.09629	0.05239237	0.09764	0.05517199	0.09628	-3.561	0.17296	T	.	.	0.107	0.19919	B	.	.	1.922680	0.24416	16.39	0.9858064117121873	0.43232	0.04950	0.10712	N	AEFGBI	0.034544	0.04297	N	-0.264636589968389	0.30524	1.702762	-0.30138243378528	0.28054	1.561225	0.0183647452203762	0.13050	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	2.74	0.31352	0.900000	0.28062	1.051000	0.23638	0.691000	0.84096	0.004000	0.16614	0.276000	0.24078	0.978000	0.57271	0.6366:0.1854:0.0:0.178	5.344	0.15303	423	0.81269	.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	5344.81	33	chr5	71560035	.	A	G	5344.81	.	AC=2;AF=0.053;AN=38;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.54;SOR=1.205	GT:AD:DP:GQ:PL	1/1:0,175:175:99:5372,525,0	18	1	0	0
chr5	75118147	75118147	C	T	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon17:c.G3856A:p.A1286T,ANKRD31:NM_001372053:exon18:c.G4027A:p.A1343T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0170466889119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.549	0.09522	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.79	0.46772	L	0.2	0.60111	T	-0.84	0.22944	N	0.2	0.22098	-0.9397	0.42664	T	0.156	0.48807	T	7	0.075415164	0.11654	T	0.017047	0.38587	T	0.030	0.07022	0.41	0.44559	0.16115917748	0.15686	0.059974397443567196	0.05937	.	.	0.255921125412	0.04417	T	0.001413	0.00874	T	-0.16856	0.25451	T	-0.479901	0.24457	T	0.102390711655354	0.12618	T	0.70163	0.31127	T	0.029978456	0.02583	0.05316264	0.08901	0.029978456	0.02582	0.05316264	0.08900	-2.696	0.07269	T	.	.	0.069	0.06756	B	.;.	.;.	0.698953	0.10679	7.373	0.95966972190481337	0.28317	0.01759	0.05532	N	AEFI	0.046822	0.07819	N	-0.47004577047244	0.23065	1.236072	-0.603180281463711	0.19411	1.041312	5.72977320847864E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.27	1.24	0.20416	0.071000	0.14461	0.026000	0.13662	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.871000	0.41478	0.1963:0.5195:0.1761:0.108	2.682	0.04781	806	0.43582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1389	920.7	35	chr5	75118147	.	C	T	920.7	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-2.889;DP=1710;ExcessHet=1.3;FS=99.544;InbreedingCoeff=-0.1753;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.07;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,38:159:99:0|1:75118147_C_T:446,0,2233:75118147	13	0	5	1
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2632	680.05	58	chr5	75146001	.	A	G	680.05	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.908;DP=1586;ExcessHet=6.9875;FS=78.135;InbreedingCoeff=-0.3633;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=1.52;SOR=10.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,19:71:99:.:.:108,0,1150:.	9	0	10	0
chr5	79730516	79730516	A	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.A1751C:p.E584A	.	424	1069	29	0	0	29	0.0133826	.	.	.	735218	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.088	.	0.0021	0.00299521	0.0038	0.0008	0.0010	0	0.0009	0.0029	0.0067	0.0145	0.0034476	533	154602	rs200387533	0.0027	0.0027	0.0022	0.0032	0.0155	0.0026	0.0026	0.0148	0.0145	0.0004	0.0006	0.0171	0	0.0010	0.0081	0.0016	0.0037	0.0155	0.0021	0.0021	0.0018	0.0024	0.0139	0.0019	0.0019	0.0112	0.0102	0.0003	0.0121	0.0005	0.0193	0	0.0018	0.0068	0.0020	0.0014	0.0139	0.47	0.08483	T	0.105	0.38016	T	0.953	0.54283	P	0.556	0.49411	P	0.046976	0.23388	N	0.365645	0.997561	0.22606	N	2.6	0.76081	M	0.64	0.52867	T	-2.95	0.61580	D	0.349	0.39052	-0.9154	0.46168	T	0.132	0.44307	T	10	0.0025447905	0.00039	T	.	.	.	0.088	0.25558	.	.	0.544738774389	0.54127	0.2969565352826435	0.29608	0.290506961512	0.31456	0.32499268651	0.14178	T	0.107114	0.41905	T	-0.438145	0.01326	T	-0.389818	0.34572	T	0.0364199132738606	0.03054	T	0.738226	0.35599	T	0.19137003	0.40761	0.20814788	0.45104	0.19137003	0.40761	0.20814788	0.45103	-5.679	0.43506	T	.	.	0.213	0.44161	B	.	.	3.764044	0.54020	23.4	0.99478722548153919	0.66741	0.93621	0.58720	D	AEFBI	0.130246	0.24872	N	0.395398827813312	0.61171	4.314794	0.453194173799013	0.64922	4.758969	0.999988312945074	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.69	5.69	0.88346	3.545000	0.53401	8.102000	0.76560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8435:0.1564:0.0:0.0	10.939	0.46474	422	0.81333	.	.	.	.	.	.	Likely benign	0	0	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	0.007049	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.018939	0.02632	2678.33	92	chr5	79730516	.	A	C	2678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.9;DP=1484;ExcessHet=0;FS=4.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.108;SOR=0.816	GT:AD:DP:GQ:PL	0/1:138,101:239:99:2692,0,3737	18	0	1	0
chr5	79734800	79734800	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.C6035T:p.S2012F	.	430	1062	30	0	0	30	0.0139276	.	.	.	735224	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.226	.	0.0022	0.00299521	0.0038	0.0008	0.0011	0	0.0009	0.0028	0.0067	0.0144	0.0034346	531	154602	rs201032060	0.0027	0.0027	0.0022	0.0031	0.0154	0.0026	0.0026	0.0148	0.0145	0.0004	0.0006	0.0171	0	0.0010	0.0080	0.0016	0.0037	0.0154	0.0021	0.0021	0.0019	0.0024	0.0139	0.0019	0.0018	0.0112	0.0102	0.0003	0.0121	0.0005	0.0193	0	0.0018	0.0068	0.0019	0.0014	0.0139	0.001	0.78490	D	0.016	0.60972	D	0.994	0.66517	D	0.862	0.61339	P	0.039534	0.24160	N	0.210202	0.999995	0.08975	N	1.01	0.25309	L	0.7	0.51474	T	-2.87	0.60348	D	0.329	0.36989	-0.9838	0.34116	T	0.134	0.44817	T	10	0.004062146	0.00079	T	.	.	.	0.226	0.52472	.	.	0.510054698054	0.50647	0.21170296660857402	0.21086	0.242559149835	0.26761	0.298259317875	0.10143	T	0.027042	0.19889	T	-0.188899	0.22422	T	-0.0317921	0.68248	D	0.0461429816485544	0.04810	T	0.517048	0.16713	T	0.22967087	0.45709	0.24030852	0.49401	0.22967087	0.45709	0.24030852	0.49400	-5.613	0.42911	T	.	.	0.169	0.37235	B	.	.	1.986486	0.25238	16.69	0.84427426053933818	0.15285	0.13837	0.18079	N	AEFBI	0.090196	0.18279	N	-0.00724785906571376	0.41528	2.485462	-0.0779092449499073	0.36306	2.111129	0.648451535963223	0.22135	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	4.77	0.60425	1.641000	0.36812	2.104000	0.30620	0.599000	0.40250	0.018000	0.19461	0.027000	0.21108	0.127000	0.19450	0.0:0.9111:0.0:0.0889	11.002	0.46824	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	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	0.006042	0.000000	0.002717	0.008772	0.000000	0.008621	0.006098	0.018939	0.02632	1001.33	86	chr5	79734800	.	C	T	1001.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=1245;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=0.595;SOR=0.85	GT:AD:DP:GQ:PL	0/1:60,39:99:99:1015,0,1463	18	0	1	0
chr5	79758776	79758776	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon7:c.C11134T:p.P3712S	.	437	1055	28	2	0	32	0.0149393	.	.	.	413681	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.301	0.0742929937315	0.0019	0.00139776	0.0029	0.0007	0.0042	0	0.0002	0.0036	0.0056	0.0027	0.002749	425	154602	rs61744879	0.0022	0.0022	0.0020	0.0023	0.0331	0.0021	0.0021	0.0292	0.0277	0.0017	0.0039	0.0106	2.555e-05	0.0001	0.0331	0.0018	0.0040	0.0025	0.0020	0.0020	0.0021	0.0019	0.0029	0.0018	0.0018	0.0022	0.0020	0.0007	0	0.0029	0.0124	0	9.452e-05	0.0340	0.0023	0.0076	0.0010	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000156	0.49130	D	0.000000	1	0.81001	D	2.785	0.81254	M	0.6	0.53731	T	-5.62	0.86758	D	0.689	0.69474	-0.4306	0.71047	T	0.276	0.64814	T	10	0.0079553425	0.00181	T	0.074293	0.72005	D	0.301	0.62179	.	.	0.622420230759	0.61935	0.46018590125347536	0.45936	0.359342250833	0.37625	0.586560249329	0.51009	T	0.091318	0.38770	T	-0.188122	0.22534	T	-0.0356092	0.67996	D	0.0367943118285224	0.03119	T	0.858514	0.54939	D	0.7099612	0.78605	0.73149425	0.84133	0.7099612	0.78606	0.73149425	0.84134	-7.529	0.57815	D	.	.	0.200	0.42346	B	.	.	3.499703	0.48958	22.7	0.99864377371403934	0.94276	0.98098	0.79581	D	AEFBI	0.696231	0.65464	D	0.765666027885568	0.83920	8.145722	0.754136889735947	0.86466	8.898101	0.999999996582122	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	5.683000	0.67852	4.799000	0.44955	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.207	0.93720	419	0.81524	Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.028701	0.005051	0.036685	0.061404	0.050000	0.051724	0.024390	0.007576	0.05263	2593.83	33	chr5	79758776	.	C	T	2593.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.47;DP=828;ExcessHet=0.119;FS=0.482;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.287;SOR=0.743	GT:AD:DP:GQ:PL	0/1:59,46:105:99:1020,0,1372	17	0	2	0
chr5	80654891	80654891	C	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	937.8	51	chr5	80654891	.	C	*	937.8	.	AC=10;AF=0.278;AN=36;DP=1313;ExcessHet=0.684;FS=0.544;InbreedingCoeff=0.1068;MLEAC=10;MLEAF=0.278;MQ=60;QD=1.26;SOR=0.657	GT:AD:DP:GQ:PL	0/1:33,38:71:99:1372,0,1166	9	1	8	1
chr5	80654905	80654905	G	C	exonic	MSH3	.	nonsynonymous SNV	MSH3:NM_002439:exon1:c.G178C:p.A60P	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	516	765	147	13	81	254	0.101585	.	.	.	623004	not_provided|Hereditary_cancer-predisposing_syndrome|not_specified|Constitutional_megaloblastic_anemia_with_severe_neurologic_disease	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0013456,MedGen:C3151205,OMIM:613839,Orphanet:319651	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	Cavernous_sinus_meningioma	MONDO:MONDO:0002996,MedGen:C1332865	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	0.220	.	.	0.0207668	0.0123	0.0041	0.0068	0.0047	0.0046	0.0162	0.0290	0.0093	0.0086674	1340	154602	rs2001675	0.0093	0.0093	0.0093	0.0092	0.0146	0.0091	0.0091	0.0121	0.0111	0.0032	0.0045	0.0159	0.0065	0.0048	0.0146	0.0099	0.0086	0.0069	0.0095	0.0091	0.0103	0.0088	0.0139	0.0090	0.0088	0.0131	0.0127	0.0050	0	0.0039	0.0192	0.0021	0.0050	0.0165	0.0139	0.0160	0.0085	1.0	0.00964	T	0.308	0.19845	T	0.131	0.27154	B	0.07	0.27859	B	.	.	.	.	3.9078e-08	0.58761	P	0	0.06538	N	-2.23	0.87116	D	0.72	0.02099	N	0.246	0.27792	-1.1240	0.02093	T	0.000	0.00075	T	7	0.0024684668	0.00037	T	.	.	.	0.220	0.51569	.	.	.	.	0.22548222237945684	0.22463	0.0300485160316	0.03099	0.584103405476	0.50664	T	0.076215	0.35366	T	-0.357316	0.04284	T	-0.271756	0.47641	T	0.00287325160120042	0.00030	T	0.214779	0.02659	T	0.07356919	0.16447	0.17325433	0.39639	0.07559062	0.17040	0.17325433	0.39638	-5.993	0.46221	T	.	.	0.081	0.08465	B	.	.	1.027988	0.14078	10.65	0.7648625718472859	0.11487	0.08520	0.14438	N	AEFGBHCIJ	0.100693	0.20241	N	-1.1288704806175	0.06134	0.2815814	-1.15061482071042	0.06757	0.3263275	0.999999999949268	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.67	-0.189	0.12608	0.000000	0.12910	0.000000	0.13247	0.000000	0.17513	0.003000	0.16062	0.349000	0.24462	0.046000	0.14843	0.0:0.0:0.6183:0.3817	8.804	0.34086	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.090522	0.147727	0.077348	0.080420	0.150000	0.045455	0.075472	0.073077	0.02632	3384.51	24	chr5	80654905	.	G	C	3384.51	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.23;DP=1080;ExcessHet=1.3;FS=5.971;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.434;SOR=1.026	GT:AD:DP:GQ:PL	0/1:39,32:71:99:650,0,1413	18	0	1	0
chr5	81330500	81330500	A	G	exonic	ACOT12	.	nonsynonymous SNV	ACOT12:NM_130767:exon15:c.T1562C:p.F521S	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0172467173071	.	.	8.247e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs753609339	4.104e-06	4.104e-06	5.445e-06	2.75e-06	1.799e-06	1.48e-06	9.7e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	6.623e-05	0	6.569e-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	0.01	0.56456	D	0.008	0.67890	D	0.804	0.45171	P	0.446	0.45959	B	0.000090	0.51296	D	0.133902	0.944634	0.37456	D	2.74	0.80084	M	2.5	0.14408	T	-1.66	0.39692	N	0.701	0.70527	-1.1454	0.01169	T	0.054	0.22846	T	10	0.67013615	0.70663	D	0.017247	0.38871	T	0.311	0.63269	0.668	0.80602	0.333651784274	0.32972	0.6162490549971875	0.61556	0.47555306322	0.46728	0.58992266655	0.51483	T	0.064804	0.32529	T	0.115881	0.65955	D	-0.0713221	0.65531	T	0.93635618686676	0.60529	D	0.677032	0.28590	T	0.22196642	0.44786	0.3355797	0.59370	0.22196642	0.44786	0.3355797	0.59370	-8.415	0.63864	D	.	.	0.573	0.67777	P	.	.	4.575090	0.72214	25.8	0.99857492088992883	0.93639	0.93361	0.58011	D	AEFI	0.847741	0.76458	D	0.517032877666889	0.68096	5.170487	0.5592095757513	0.72042	5.747621	0.926991276668426	0.26871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.58	5.58	0.84361	6.049000	0.70682	11.176000	0.88137	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	12.434	0.54924	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1426.33	33	chr5	81330500	.	A	G	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=732;ExcessHet=0;FS=3.483;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.988;SOR=1.044	GT:AD:DP:GQ:PL	0/1:67,54:121:99:1440,0,1643	18	0	1	0
chr5	96432106	96432106	T	C	exonic	PCSK1	.	nonsynonymous SNV	PCSK1:NM_001177875:exon1:c.A16G:p.I6V	Obesity with impaired prohormone processing, Isolated cases	1	1518	3	0	0	3	0.000987167	.	.	.	421562	not_provided|PCSK1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.00716894113997	.	0.000599042	0.0002	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs144071994	7.158e-05	6.772e-05	6.138e-05	8.205e-05	0.0017	5.993e-05	5.56e-05	0.0014	0.0012	0	0	0	0.0017	0	0.0002	4.637e-06	0.0001	0.0003	9.853e-05	9.844e-05	0.0001	6.718e-05	0.0023	6.005e-05	4.878e-05	0.0013	0.0010	0	0	6.539e-05	0	0.0023	0	0	2.941e-05	0	0	0.064	0.36509	T	0.183	0.29153	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.12	0.64630	T	0.07	0.06138	N	0.01	0.00095	-0.9936	0.31670	T	0.067	0.27674	T	7	0.0066926777	0.00152	T	0.007169	0.19006	T	0.037	0.09474	.	.	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.644273	0.00078	T	-0.704706	0.05572	T	0.0302599235295703	0.02030	T	0.206779	0.02461	T	.	.	.	.	.	.	.	.	-3.616	0.18088	T	.	.	0.069	0.03266	B	.	.	-1.062475	0.00687	0.020	0.52359590183374816	0.04733	0.00537	0.02479	N	AEFDBCI	0.057023	0.10588	N	-1.68970529627125	0.00879	0.03803266	-1.88701959335211	0.00519	0.02302155	0.999999999988621	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.54	-9.08	0.00616	-2.154000	0.01372	-4.591000	0.02079	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1683:0.2753:0.4233:0.133	3.339	0.06695	742	0.52873	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2388.33	38	chr5	96432106	.	T	C	2388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.21;DP=897;ExcessHet=0;FS=1.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=0.596;SOR=0.56	GT:AD:DP:GQ:PL	0/1:53,100:153:99:2402,0,1168	18	0	1	0
chr5	102270770	102270770	G	C	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656G:p.T219R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0120097677659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.868e-07	1.437e-05	0	1.381e-06	9.02e-07	0	0	.	.	0	0	0	0	0	0	9.02e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.07545	T	0.507	0.10930	T	0.003	0.11197	B	0.021	0.19346	B	0.114133	0.02666	N	1.718550	1	0.08975	N	0.955	0.23872	L	1.16	0.38073	T	-0.9	0.24244	N	0.205	0.22742	-1.0714	0.09108	T	0.057	0.24055	T	10	0.053885907	0.05650	T	0.01201	0.30193	T	0.052	0.14661	0.576	0.70087	0.0884992946249	0.08302	0.3046381697876559	0.30376	0.0509954482361	0.05609	0.284427404404	0.08118	T	0.010282	0.09295	T	-0.251295	0.13939	T	-0.598744	0.12917	T	0.048715602606535	0.05272	T	0.253875	0.03902	T	0.055680685	0.10854	0.04068339	0.04453	0.055680685	0.10853	0.04068339	0.04452	-4.03	0.24251	T	.	.	0.069	0.03162	B	.	.	0.072722	0.04809	1.415	0.38565595464401864	0.02609	0.07420	0.13439	N	AEFBI	0.125103	0.24146	N	-1.20074596281669	0.04990	0.2264474	-1.20614429823647	0.05810	0.2779155	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1471	340.2	63	chr5	102270770	.	G	C	340.2	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-1.79;DP=1035;ExcessHet=2.0135;FS=96.392;InbreedingCoeff=-0.2208;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.944;SOR=7.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,5:42:25:.:.:25,0,1200:.	12	0	5	2
chr5	123377529	123377529	T	C	exonic	CEP120	.	nonsynonymous SNV	CEP120:NM_001166226:exon16:c.A2125G:p.R709G,CEP120:NM_001375405:exon16:c.A2203G:p.R735G,CEP120:NM_001375406:exon16:c.A2068G:p.R690G,CEP120:NM_001375407:exon16:c.A2203G:p.R735G,CEP120:NM_001375409:exon17:c.A1630G:p.R544G,CEP120:NM_153223:exon17:c.A2203G:p.R735G,CEP120:NM_001375408:exon19:c.A1630G:p.R544G	Short-rib thoracic dysplasia 13 with or without polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2729656	Short-rib_thoracic_dysplasia_13_with_or_without_polydactyly|Inborn_genetic_diseases	MONDO:MONDO:0014577,MedGen:C4225378,OMIM:616300,Orphanet:474|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.253	0.0326747083487	.	.	0.0001	0	0	0	0.0003	7.536e-05	0.0011	0.0005	0.0001035	16	154602	rs766787576	7.634e-05	7.73e-05	7.105e-05	8.169e-05	0.0005	6.465e-05	6.012e-05	0.0002	0.0002	0	0	0	0	0.0004	0.0005	5.074e-05	6.793e-05	0.0003	3.942e-05	3.937e-05	2.571e-05	5.375e-05	0.0004	1.715e-05	1.129e-05	7.299e-05	3.032e-05	0	0	0	0	0	0	0	5.883e-05	0	0.0004	0.002	0.72154	D	0.015	0.70582	D	0.568	0.38507	P	0.253	0.39112	B	0.000000	0.84330	D	0.048774	0.918159	0.36599	D	2.71	0.79292	M	0.57	0.54347	T	-4.58	0.82450	D	0.56	0.58458	-0.8159	0.54189	T	0.175	0.51832	T	10	0.13099185	0.24930	T	0.032675	0.54438	D	0.253	0.56294	0.164	0.06842	0.478376075226	0.47469	0.350376842980985	0.34951	0.182540845117	0.20516	0.402306854725	0.25390	T	0.208476	0.62945	T	-0.130038	0.31491	T	-0.102601	0.63196	T	0.540216624736786	0.34112	D	0.887611	0.61727	D	0.7060928	0.78392	0.5713524	0.75177	0.7060928	0.78393	0.5713524	0.75178	-9.391	0.70179	D	0.8092063684687988	0.88450	0.133	0.28721	B	.;.;.;.	.;.;.;.	3.617604	0.51181	23.1	0.99618102384615725	0.75233	0.98108	0.79665	D	AEFGBI	0.380515	0.46313	N	0.15394921940671	0.48999	3.105352	0.216970952961271	0.50788	3.267293	0.997593137737185	0.35797	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.68	4.5	0.54382	1.809000	0.38560	2.484000	0.32953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1356:0.8644	12.934	0.57699	927	0.17636	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1048.33	33	chr5	123377529	.	T	C	1048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.303;DP=682;ExcessHet=0;FS=4.49;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=0.744;SOR=0.253	GT:AD:DP:GQ:PL	0/1:30,37:67:99:1062,0,917	18	0	1	0
chr5	132060983	132060983	A	G	exonic	IL3	.	nonsynonymous SNV	IL3:NM_000588:exon2:c.A179G:p.N60S	.	423	1097	2	0	0	2	0.000910747	.	.	.	721204	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.032	0.00321655318147	0.0024	0.00139776	0.0016	0.0007	0.0020	0.0001	0.0003	0.0024	0	0.0004	0.0018046	279	154602	rs35482671	0.0030	0.0030	0.0031	0.0029	0.0037	0.0029	0.0029	0.0036	0.0036	0.0004	0.0017	0	7.557e-05	0.0004	0.0003	0.0037	0.0024	0.0002	0.0019	0.0019	0.0021	0.0016	0.0030	0.0017	0.0016	0.0027	0.0025	0.0007	0.0099	0.0020	0	0.0002	0.0003	0	0.0030	0.0019	0	0.025	0.47320	D	0.2	0.27591	T	0.048	0.22112	B	0.02	0.19048	B	0.091467	0.02458	N	1.876830	1	0.08975	N	1.12	0.28775	L	1.17	0.37910	T	-2.37	0.52289	N	0.033	0.00882	-1.0143	0.25561	T	0.052	0.22076	T	10	0.0047552586	0.00100	T	0.003217	0.07087	T	0.032	0.07718	.	.	0.110078149338	0.10416	0.393057286153806	0.39220	0.231925049726	0.25743	0.341308027506	0.16634	T	0.377035	0.74030	T	-0.704709	0.00034	T	-0.783814	0.02340	T	0.00306632782290677	0.00032	T	0.515548	0.16619	T	0.10750515	0.25421	0.07588456	0.16751	0.10750515	0.25421	0.07588456	0.16750	-2.412	0.05207	T	.	.	0.116	0.23465	B	.	.	-0.215050	0.03016	0.458	0.81282739265759785	0.13608	0.00824	0.03324	N	AEFDBI	0.027697	0.02309	N	-1.1803349315642	0.05297	0.2411685	-1.3444280558171	0.03872	0.1815019	0.972465339825108	0.29373	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.97	-5.79	0.02162	-1.237000	0.03032	-3.255000	0.02931	-0.429000	0.05206	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2515:0.425:0.1848:0.1388	2.060	0.03371	386	0.83455	.	.	.	.	.	.	Likely benign	0	0	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	0.002018	0.005051	0.001359	0.000000	0.000000	0.000000	0.006135	0.000000	0.02632	1275.33	33	chr5	132060983	.	A	G	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.194;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.414;SOR=0.722	GT:AD:DP:GQ:PL	0/1:50,51:101:99:1289,0,1273	18	0	1	0
chr5	141053041	141053041	C	T	exonic	PCDHB1	.	nonsynonymous SNV	PCDHB1:NM_013340:exon1:c.C1571T:p.A524V	.	424	1086	11	1	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	.	0.0082	0.00678914	0.0081	0.0020	0.0198	0.0001	0.0074	0.0091	0.0066	0.0043	0.0090102	1393	154602	rs17208383	0.0100	0.0100	0.0101	0.0098	0.0236	0.0098	0.0098	0.0224	0.0219	0.0021	0.0236	0.0026	0.0005	0.0075	0.0069	0.0107	0.0094	0.0052	0.0077	0.0076	0.0080	0.0072	0.0194	0.0073	0.0071	0.0176	0.0169	0.0022	0	0.0194	0.0026	0.0002	0.0046	0	0.0101	0.0066	0.0027	0.05	0.39575	D	0.085	0.41074	T	0.999	0.77913	D	0.977	0.73820	D	0.000456	0.44317	D	0.000000	0.837724	0.35017	D	0.9	0.23182	L	0.69	0.51714	T	-2.5	0.54382	D	0.234	0.26354	-0.6903	0.60894	T	0.132	0.44307	T	10	0.0059432685	0.00133	T	.	.	.	0.160	0.41473	.	.	0.769374521287	0.76726	0.10760205720526275	0.10689	1.17497726042	0.79854	0.430432468653	0.29267	T	0.034226	0.23238	T	-0.494142	0.00617	T	-0.464324	0.26130	T	0.0322874919785174	0.02352	T	0.548745	0.18852	T	0.15575531	0.35185	0.18585645	0.41724	0.15575531	0.35184	0.18585645	0.41723	-3.787	0.20610	T	.	.	0.114	0.22825	B	.	.	3.727231	0.53295	23.3	0.9988593029234758	0.96126	0.52797	0.29217	D	AEFBI	0.467900	0.51493	N	0.407962609503157	0.61859	4.392871	0.384604240781918	0.60614	4.251	0.958661365259515	0.28377	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.11	6.11	0.99132	-0.203000	0.09440	.	.	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.991000	0.66497	0.2539:0.7461:0.0:0.0	13.391	0.60270	223	0.91367	Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.001359	0.020468	0.000000	0.000000	0.003049	0.003788	0.02632	2068.33	36	chr5	141053041	.	C	T	2068.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.525;DP=823;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.666;SOR=0.718	GT:AD:DP:GQ:PL	0/1:84,79:163:99:2082,0,2451	18	0	1	0
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1117.17	226	chr5	141173766	.	G	C	1117.17	.	AC=6;AF=0.25;AN=24;BaseQRankSum=-5.191;DP=3406;ExcessHet=4.0268;FS=229.301;InbreedingCoeff=-0.4104;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=0.731;SOR=12.262	GT:AD:DP:GQ:PL	0/1:160,44:204:1:1,0,3297	6	0	6	7
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4706	14014.1	269	chr5	141303079	.	C	G	14014.1	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-5.32;DP=3969;ExcessHet=25.4433;FS=253.579;InbreedingCoeff=-0.8095;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.54;SOR=13.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:149,42:205:99:.:.:915,0,5289:.	1	0	16	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	19266.3	284	chr5	141303081	.	A	G	19266.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.62;DP=4066;ExcessHet=38.2876;FS=254.572;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.37;SOR=14.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:149,59:208:99:.:.:1076,0,5269:.	1	0	18	0
chr5	141410519	141410519	-	T	exonic	PCDHGB6	.	frameshift insertion	PCDHGB6:NM_018926:exon1:c.2318dupT:p.H774Tfs*4,PCDHGB6:NM_032100:exon1:c.2318dupT:p.H774Tfs*4	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0012	0.0001294	20	154602	rs775122106	6.157e-05	6.156e-05	2.995e-05	9.352e-05	0.0010	5.095e-05	4.716e-05	0.0008	0.0008	0	0	0	0	0	0	8.994e-07	3.313e-05	0.0010	3.283e-05	3.281e-05	1.285e-05	5.373e-05	0.0010	1.26e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1957.29	37	chr5	141410519	.	C	CT	1957.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=841;ExcessHet=0;FS=11.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-2.044;SOR=1.471	GT:AD:DP:GQ:PL	0/1:98,66:164:99:1971,0,3110	18	0	1	0
chr5	141863296	141863296	G	A	exonic	PCDH1	.	nonsynonymous SNV	PCDH1:NM_001278615:exon2:c.C1898T:p.T633M,PCDH1:NM_001278613:exon3:c.C3083T:p.T1028M,PCDH1:NM_002587:exon3:c.C3035T:p.T1012M,PCDH1:NM_032420:exon3:c.C3035T:p.T1012M	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	.	0.00239617	0.0019	0	0.0003	0.0001	0.0003	0.0001	0.0013	0.0196	0.0017917	277	154602	rs200143790	0.0010	0.0011	0.0006	0.0015	0.0154	0.0010	0.0010	0.0146	0.0144	9.299e-05	0.0002	0	2.543e-05	0.0003	0.0022	0.0001	0.0009	0.0154	0.0005	0.0006	0.0002	0.0008	0.0135	0.0004	0.0004	0.0108	0.0099	9.629e-05	0	6.539e-05	0	0	9.427e-05	0	0.0001	0	0.0135	0.073	0.34800	T	0.094	0.39645	T	0.999	0.77913	D	0.933	0.70309	D	0.000189	0.48115	D	0.000000	1	0.81001	D	2.47	0.71715	M	1.4	0.33630	T	-2.05	0.47008	N	0.691	0.69649	-0.7419	0.58355	T	0.206	0.56512	T	10	0.010196	0.00228	T	.	.	.	0.198	0.48105	0.423	0.46693	0.21174354426	0.20776	0.2560855096410599	0.25522	1.3345040269	0.83722	0.70681655407	0.68131	T	0.071543	0.34234	T	-0.238302	0.15566	T	-0.102107	0.63234	T	0.130818232893944	0.15458	T	0.965303	0.87188	D	0.107679315	0.25461	0.12883446	0.30989	0.107679315	0.25461	0.12883446	0.30988	-7.375	0.58513	T	.	.	0.191	0.40984	B	.;.	.;.	4.406987	0.68149	25.2	0.99819031853016216	0.90238	0.86426	0.45704	D	AEFBCI	0.744535	0.68749	D	0.635926126412539	0.75460	6.309941	0.597684234809031	0.74773	6.194485	0.999999999832977	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	7.669000	0.82880	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	15.149	0.72357	910	0.22284	.;Protocadherin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	4839.83	33	chr5	141863296	.	G	A	4839.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.87;DP=1034;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.945;SOR=0.691	GT:AD:DP:GQ:PL	0/1:110,90:200:99:2182,0,2601	17	0	2	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2059	536.21	79	chr5	146286009	.	G	C	536.21	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-2.632;DP=1601;ExcessHet=2.9153;FS=120.644;InbreedingCoeff=-0.2893;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.514;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,18:72:64:.:.:64,0,836:.	10	0	7	2
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2926.77	122	chr5	154834880	.	G	C	2926.77	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-3.509;DP=2450;ExcessHet=17.0548;FS=265.035;InbreedingCoeff=-0.631;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.04;SOR=12.969	GT:AD:DP:GQ:PL	0/1:83,38:121:99:256,0,1790	4	0	14	1
chr5	154892470	154892470	G	A	exonic	GEMIN5	.	nonsynonymous SNV	GEMIN5:NM_001252156:exon25:c.C3674T:p.A1225V,GEMIN5:NM_015465:exon25:c.C3677T:p.A1226V	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0351704136771	7.7e-05	.	2.482e-05	0	0	0	0	4.516e-05	0	0	1.94e-05	3	154602	rs368952814	8.893e-06	9.577e-06	5.445e-06	1.238e-05	0.0007	4.96e-06	3.82e-06	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	2.698e-06	4.967e-05	2.319e-05	6.569e-06	6.567e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.038	0.42783	D	0.108	0.37589	T	0.844	0.46645	P	0.186	0.36104	B	0.004728	0.33446	N	0.326476	0.918708	0.27344	N	2.175	0.60977	M	-0.63	0.72011	T	-1.35	0.33598	N	0.167	0.17691	-0.6139	0.64242	T	0.268	0.63929	T	10	0.24061185	0.41224	T	0.03517	0.56165	D	0.148	0.39182	.	.	0.821323271038	0.81963	0.3384325086971657	0.33756	0.232148426963	0.25761	0.363344728947	0.19871	T	0.023046	0.17662	T	-0.0735563	0.40757	T	-0.235778	0.51211	T	0.348087549209595	0.26944	T	0.90061	0.65471	D	0.1977203	0.41647	0.14339761	0.34081	0.1977203	0.41647	0.14339761	0.34080	-3.572	0.17453	T	.	.	0.184	0.39815	B	.	.	3.452869	0.48089	22.6	0.997511186670336	0.84305	0.91774	0.54234	D	AEFDGBI	0.234779	0.35748	N	0.0963649867229088	0.46291	2.871896	0.104355428465734	0.44771	2.752449	0.999996260210501	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.723133	0.82415	0	0.735409	0.98432	0	.	.	5.9	5.03	0.67015	2.568000	0.45628	8.106000	0.76575	0.676000	0.76740	0.986000	0.36153	1.000000	0.68203	0.569000	0.30626	0.0:0.2818:0.7182:0.0	16.307	0.82681	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	.	.	.	.	.	.	.	.	0.02632	795.33	42	chr5	154892470	.	G	A	795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.228;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=1.5;SOR=0.65	GT:AD:DP:GQ:PL	0/1:40,37:77:99:809,0,1024	18	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	128065.0	769	chr5	157052557	.	C	*	128065.0	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0.778;DP=10426;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0434;MLEAC=21;MLEAF=0.583;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.521;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,491:491:99:.:.:21858,1487,0:.	5	7	6	1
chr5	157651397	157651397	C	T	exonic	SOX30	.	nonsynonymous SNV	SOX30:NM_007017:exon1:c.G682A:p.A228T,SOX30:NM_178424:exon1:c.G682A:p.A228T	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.0131581511953	.	.	0.0001	0	8.658e-05	0	0	0	0.0011	0.0007	8.41e-05	13	154602	rs747852816	6.16e-05	6.156e-05	3.132e-05	9.218e-05	0.0010	5.097e-05	4.718e-05	0.0008	0.0007	0	0	0	0	0	0	1.799e-06	8.284e-05	0.0010	3.285e-05	3.283e-05	1.285e-05	5.379e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.961	0.02093	T	0.732	0.05128	T	0.002	0.09854	B	0.001	0.04355	B	0.082509	0.02369	N	1.948600	1	0.08975	N	0.55	0.14455	N	-4.43	0.97492	D	-0.06	0.07882	N	0.01	0.00125	-0.1760	0.78281	T	0.626	0.86854	D	10	0.013242811	0.00282	T	0.013158	0.32344	T	0.309	0.63055	0.15	0.05339	0.602739841111	0.59956	0.13828074088055245	0.13752	.	.	0.284581184387	0.08139	T	0.002235	0.01633	T	-0.443616	0.01232	T	-0.470598	0.25453	T	0.0175054972559183	0.00485	T	0.546745	0.18722	T	0.020931542	0.00671	0.039762367	0.04144	0.020931542	0.00671	0.039762367	0.04144	-4.26	0.27612	T	0.0819739600084553	0.04287	0.069	0.03128	B	.;.	.;.	-2.029290	0.00095	0.002	0.73839246192376995	0.10474	0.01649	0.05298	N	AEFDBCI	0.041245	0.06244	N	-2.1659532737455	0.00091	0.003907631	-2.26632787942144	0.00079	0.003478042	0.999999999985227	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.505578	0.09266	0	0.584449	0.35598	0	.	.	5.05	-10.1	0.00330	-4.114000	0.00331	-6.566000	0.01364	-1.873000	0.00550	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0702:0.4186:0.2824:0.2288	5.732	0.17316	798	0.45050	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1027.33	34	chr5	157651397	.	C	T	1027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=719;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.456;SOR=0.578	GT:AD:DP:GQ:PL	0/1:47,40:87:99:1041,0,1078	18	0	1	0
chr5	157675184	157675184	G	A	exonic	C5orf52	.	nonsynonymous SNV	C5orf52:NM_001145132:exon2:c.G305A:p.R102Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0147301919287	.	.	4.632e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs779555624	2.082e-05	2.257e-05	1.56e-05	2.618e-05	0.0003	1.461e-05	1.263e-05	0.0002	0.0001	0	0	3.979e-05	0	0	0	6.523e-06	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.972489	0.25598	N	1.545	0.39105	L	1.39	0.33842	T	-3.72	0.70793	D	0.293	0.33140	-1.0366	0.18357	T	0.132	0.44386	T	9	0.1954819	0.35402	T	0.01473	0.35036	T	0.091	0.26358	0.333	0.32005	0.0611884634855	0.05136	0.0436730455659018	0.04312	.	.	.	.	.	0.139362	0.47335	T	-0.302102	0.08462	T	-0.375533	0.36245	T	0.736005783081055	0.42524	D	0.722728	0.33613	T	0.4043646	0.61033	0.41523013	0.65643	0.4043646	0.61034	0.41523013	0.65643	-3.607	0.17958	T	.	.	0.175	0.38300	B	.	.	3.877831	0.56346	23.7	0.99937956586959031	0.99698	0.21070	0.21270	N	AEFDBI	0.107924	0.21486	N	0.158205653687985	0.49202	3.123163	0.0590918516666025	0.42513	2.572693	0.00265252540650421	0.09608	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.22	2.22	0.27116	1.695000	0.37381	6.701000	0.56371	0.373000	0.20310	0.907000	0.31601	1.000000	0.68203	0.894000	0.43146	0.0:0.0:1.0:0.0	7.884	0.28800	857	0.34089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1075.33	37	chr5	157675184	.	G	A	1075.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=-0.464;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,45:101:99:1|0:157675177_A_G:1089,0,2172:157675177	18	0	1	0
chr5	168428738	168428738	A	G	exonic	WWC1	.	nonsynonymous SNV	WWC1:NM_001161661:exon13:c.A1951G:p.S651G,WWC1:NM_001161662:exon13:c.A1951G:p.S651G,WWC1:NM_015238:exon13:c.A1951G:p.S651G	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	7.7e-05	0.0071885	0.0035	0	8.642e-05	0.0373	0.0064	0.0004	0.0077	0.0015	0.0031047	480	154602	rs79212989	0.0017	0.0017	0.0017	0.0017	0.0419	0.0016	0.0016	0.0402	0.0395	0	0.0002	3.827e-05	0.0419	0.0083	0.0002	0.0001	0.0016	0.0014	0.0019	0.0019	0.0015	0.0023	0.0327	0.0017	0.0016	0.0287	0.0271	2.408e-05	0	0.0004	0	0.0327	0.0076	0	0.0002	0.0028	0.0017	0.54	0.16628	T	0.208	0.26883	T	0.007	0.14184	B	0.006	0.12133	B	0.000107	0.50451	D	0.213402	0.663787	0.33077	D	1.525	0.38595	L	2.09	0.20122	T	-1.24	0.31375	N	0.221	0.24758	-1.0734	0.08681	T	0.009	0.03140	T	10	0.0027630627	0.00043	T	.	.	.	0.039	0.10176	.	.	0.206339911435	0.20273	0.3401482556519837	0.33927	0.269650273618	0.29486	0.471946716309	0.34948	T	0.019756	0.15682	T	-0.511595	0.00492	T	-0.471142	0.25392	T	0.034101595712509	0.02655	T	0.661134	0.27033	T	0.07666436	0.17352	0.05722309	0.10363	0.07666436	0.17352	0.05722309	0.10362	-7.29	0.56124	T	.	.	0.062	0.01328	B	.;.	.;.	2.173389	0.27700	17.55	0.9742972870484059	0.33921	0.95530	0.65088	D	AEFDBI	0.504952	0.53630	D	-0.182121554601621	0.33880	1.927198	0.00809161986734974	0.40090	2.38704	0.999985717426597	0.51787	0.719381	0.83141	0	0.633656	0.55848	0	0.723133	0.82415	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	4.538000	0.60361	3.029000	0.36034	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.9257:0.0:0.0743:0.0	10.123	0.41806	953	0.10115	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1411.33	33	chr5	168428738	.	A	G	1411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.889;DP=752;ExcessHet=0;FS=3.113;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.944;SOR=1.022	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1425,0,1673	18	0	1	0
chr5	177210738	177210738	C	T	exonic	NSD1	.	nonsynonymous SNV	NSD1:NM_022455:exon5:c.C2339T:p.S780L,NSD1:NM_001365684:exon6:c.C1532T:p.S511L,NSD1:NM_172349:exon6:c.C1532T:p.S511L	Beckwith-Wiedemann syndrome, Autosomal dominant;Leukemia, acute myeloid, Autosomal dominant;Sotos syndrome 1, Autosomal dominant	0	1488	33	1	0	35	0.011624	.	.	YES	239787	not_provided|NSD1-related_disorder|not_specified|Inborn_genetic_diseases|Sotos_syndrome	MedGen:C3661900|.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019349,MedGen:C0175695,OMIM:117550,Orphanet:821	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.203	0.119532793554	0.0002	0.00159744	0.0015	0.0005	0.0003	0.0001	0	0.0002	0.0033	0.0090	0.0012678	196	154602	rs201327209	0.0007	0.0007	0.0004	0.0009	0.0078	0.0006	0.0006	0.0073	0.0072	0.0006	0.0001	3.826e-05	0.0001	1.872e-05	0.0045	0.0001	0.0013	0.0078	0.0004	0.0004	0.0002	0.0006	0.0079	0.0003	0.0003	0.0059	0.0052	0.0002	0	6.537e-05	0	0	0	0.0034	0.0001	0	0.0079	0.369	0.11586	T	0.157	0.31730	T	0.001	0.07471	B	0.001	0.04355	B	0.479984	0.04976	N	1.312980	1	0.08975	N	0.665	0.16292	N	-2.92	0.91748	D	-0.93	0.24898	N	0.123	0.11483	-0.5315	0.67484	T	0.501	0.81130	D	9	0.0071305633	0.00162	T	0.119533	0.79986	D	0.203	0.48915	.	.	0.285775778912	0.28195	0.1697416330843925	0.16894	0.0501952522484	0.05511	0.305351316929	0.11204	T	0.066807	0.33039	T	-0.46338	0.00936	T	-0.432275	0.29678	T	0.000333618925651535	0.00003	T	0.835416	0.50550	T	0.022735035	0.00958	0.0322699	0.01938	0.02184088	0.00810	0.035779733	0.02895	-3.889	0.23023	T	0.09667254712048216	0.06716	0.062	0.04080	B	.;.;.	.;.;.	1.123340	0.15092	11.58	0.7050257673748207	0.09317	0.11542	0.16702	N	AEFBI	0.038157	0.05359	N	-1.10106651792145	0.06625	0.3054917	-1.05623962233042	0.08577	0.4223897	0.0861538822561668	0.16001	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	2.02	0.25641	0.173000	0.16538	0.725000	0.21043	-0.202000	0.08738	0.002000	0.15269	0.239000	0.23838	0.733000	0.35199	0.0:0.6073:0.0:0.3927	6.754	0.22692	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.02632	6781.33	456	chr5	177210738	.	C	T	6781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.09;DP=3497;ExcessHet=0;FS=2.472;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.452;SOR=0.514	GT:AD:DP:GQ:PL	0/1:254,242:496:99:6795,0,6188	18	0	1	0
chr5	179114270	179114270	C	T	exonic	ADAMTS2	.	nonsynonymous SNV	ADAMTS2:NM_014244:exon22:c.G3233A:p.R1078H	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4122013	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.336	0.0548550732063	.	.	2.49e-05	0	0	0	0	1.506e-05	0	0.0001	1.94e-05	3	154602	rs752742612	1.3e-05	1.368e-05	1.77e-05	8.251e-06	5.974e-05	8.31e-06	6.7e-06	9.89e-06	6.42e-06	5.974e-05	0	0	2.519e-05	0	0	1.349e-05	0	1.159e-05	1.972e-05	1.97e-05	1.285e-05	2.69e-05	0.0001	5.24e-06	2.45e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.023	0.48186	D	0.002	0.79402	D	1.0	0.90584	D	0.959	0.70163	D	0.007890	0.31137	N	0.225652	0.997265	0.43752	D	2.32	0.66415	M	0.03	0.62183	T	-3.88	0.72710	D	0.476	0.51137	-0.3397	0.73853	T	0.371	0.73053	T	10	0.5677784	0.65148	D	0.054855	0.66014	D	0.336	0.65816	0.523	0.62668	0.722221533642	0.71977	0.6730192494549355	0.67239	1.37764237124	0.84714	0.60002720356	0.52908	T	0.678546	0.90536	D	-0.11367	0.34163	T	-0.219528	0.52783	T	0.938496351242065	0.60916	D	.	.	.	0.18970609	0.40523	0.1286056	0.30939	0.18970609	0.40523	0.1286056	0.30938	-6.266	0.48453	T	.	.	0.138	0.30049	B	.	.	4.798682	0.77943	26.8	0.99910258320281364	0.98022	0.96915	0.71636	D	AEFBI	0.863349	0.78187	D	0.528236926133196	0.68767	5.262642	0.46176392475915	0.65478	4.828584	0.996171875442974	0.34572	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.29	3.47	0.38831	4.905000	0.62982	4.841000	0.45285	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.7878:0.1372:0.075	10.197	0.42236	740	0.53092	PLAC	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1398.33	37	chr5	179114270	.	C	T	1398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.39;DP=846;ExcessHet=0;FS=6.343;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-0.245;SOR=1.192	GT:AD:DP:GQ:PL	0/1:96,57:153:99:1412,0,2287	18	0	1	0
chr5	180848896	180848896	A	G	exonic	ZFP62	.	nonsynonymous SNV	ZFP62:NM_001172638:exon2:c.T2599C:p.S867P,ZFP62:NM_001377942:exon2:c.T2500C:p.S834P,ZFP62:NM_001377943:exon2:c.T2599C:p.S867P,ZFP62:NM_001377940:exon3:c.T2500C:p.S834P,ZFP62:NM_001377941:exon3:c.T2500C:p.S834P,ZFP62:NM_152283:exon3:c.T2500C:p.S834P,ZFP62:NM_001377939:exon4:c.T2500C:p.S834P	.	432	1087	2	1	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00714634362171	0.0004	0.000399361	0.0011	0.0005	0	0	0	0.0025	0	0.0001	0.0001876	29	154602	rs150247342	0.0004	0.0004	0.0004	0.0004	0.0070	0.0003	0.0003	0.0053	0.0047	0.0004	0.0008	0.0081	0	0	0.0070	0.0002	0.0010	0.0002	0.0005	0.0005	0.0004	0.0006	0.0010	0.0004	0.0004	0.0006	0.0005	4.815e-05	0	0.0010	0.0072	0	0	0.0034	0.0004	0.0019	0.0010	0.982	0.06980	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.875	0.01443	N	3.15	0.07820	T	2.67	0.00196	N	0.098	0.10626	-0.9265	0.44645	T	0.008	0.02968	T	9	0.0034482777	0.00061	T	0.007146	0.18951	T	0.045	0.12272	.	.	0.0666544352282	0.05500	0.09881781728387663	0.09812	.	.	0.313918143511	0.12500	T	0.001308	0.00783	T	-0.547208	0.00303	T	-0.652718	0.08764	T	0.00595230368663102	0.00065	T	0.0166483	0.00092	T	0.087598875	0.20404	0.07070439	0.15055	0.087598875	0.20404	0.07070439	0.15054	-2.073	0.03470	T	.	.	0.076	0.05935	B	.;.	.;.	0.308280	0.06837	3.363	0.79240276267877896	0.12653	0.19886	0.20833	N	AEFDGBHI	0.148121	0.27194	N	-1.17876836878003	0.05321	0.2423169	-1.1340276282714	0.07058	0.3419225	0.0116187712262719	0.12211	0.634777	0.41761	0	0.653731	0.59785	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.48	0.724	0.17389	1.003000	0.29410	1.574000	0.27434	0.756000	0.94297	0.026000	0.20160	0.297000	0.24199	0.194000	0.21720	0.6209:0.0:0.1981:0.181	2.962	0.05534	906	0.23090	.;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	0.003348	0.005319	0.000000	0.016949	0.000000	0.000000	0.000000	0.000000	0.02632	1101.33	33	chr5	180848896	.	A	G	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.03;DP=753;ExcessHet=0;FS=3.283;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-0.219;SOR=0.463	GT:AD:DP:GQ:PL	0/1:74,50:124:99:1115,0,1902	18	0	1	0
chr6	8413679	8413682	AACA	-	exonic	SLC35B3	.	stopgain	SLC35B3:NM_001370477:exon9:c.884_887del:p.L295*,SLC35B3:NM_001370478:exon10:c.977_980del:p.L326*,SLC35B3:NM_001370479:exon10:c.977_980del:p.L326*,SLC35B3:NM_001142540:exon11:c.1073_1076del:p.L358*,SLC35B3:NM_001142541:exon11:c.1073_1076del:p.L358*,SLC35B3:NM_001370476:exon11:c.1073_1076del:p.L358*,SLC35B3:NM_015948:exon11:c.1073_1076del:p.L358*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0007	5.82e-05	9	154602	rs772148642	2.407e-05	2.327e-05	8.46e-06	3.982e-05	0.0004	1.733e-05	1.529e-05	0.0003	0.0002	0	0	0	0	0	0	1.858e-06	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	541.29	36	chr6	8413678	.	TAACA	T	541.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.194;DP=633;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.154;SOR=0.892	GT:AD:DP:GQ:PL	0/1:25,15:40:99:555,0,1004	18	0	1	0
chr6	17421557	17421557	T	C	exonic	CAP2	.	startloss	CAP2:NM_001363533:exon2:c.T2C:p.M1?,CAP2:NM_001363534:exon2:c.T2C:p.M1?,CAP2:NM_006366:exon2:c.T2C:p.M1?	.	.	.	.	.	.	.	.	.	.	.	2849752	Cardiomyopathy,_dilated,_2I	MONDO:MONDO:0957545,MedGen:C5830685,OMIM:620462	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.310	0.100226983973	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781551693	8.893e-06	8.893e-06	9.529e-06	8.25e-06	7.194e-06	4.96e-06	3.82e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	8.279e-05	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.92824	D	0.987	0.61912	D	0.942	0.67772	D	0.000007	0.62929	D	0.140458	1	0.23847	N	.	.	.	3.04	0.10871	T	-1.35	0.48354	N	0.933	0.93841	-1.0973	0.04433	T	0.042	0.18076	T	9	0.98545957	0.98800	D	0.100227	0.77237	D	0.310	0.63162	0.979	0.99802	0.602985972322	0.59981	0.47470435861227966	0.47389	.	.	.	.	.	0.038692	0.41398	T	0.185171	0.72518	D	0.0436942	0.73169	D	0.979254543781281	0.72738	D	0.9	0.65058	D	0.52832013	0.68735	0.4997486	0.71078	0.52832013	0.68736	0.4997486	0.71078	-10.767	0.78365	D	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.574287	0.50354	22.9	0.98335975944333665	0.40388	0.64455	0.32413	D	AEFDBHCI	0.405650	0.47845	N	0.888146138081584	0.91165	10.74821	0.739578416039081	0.85376	8.562251	0.999999960051264	0.74766	0.706298	0.61202	0	0.615948	0.52940	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.42	5.42	0.78666	4.701000	0.61496	6.174000	0.54533	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:0.0:1.0	12.125	0.53215	879	0.29470	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1139.33	34	chr6	17421557	.	T	C	1139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.905;DP=714;ExcessHet=0;FS=0.775;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-1.72;SOR=0.859	GT:AD:DP:GQ:PL	0/1:52,49:101:99:1153,0,1319	18	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	1943.2	34	chr6	24145554	.	C	T	1943.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.544;DP=1290;ExcessHet=11.1788;FS=190.289;InbreedingCoeff=-0.4869;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=-0.194;SOR=11.772	GT:AD:DP:GQ:PL	0/1:53,13:79:14:14,0,903	7	0	12	0
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	164.05	60	chr6	27310582	.	G	A	164.05	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.088;DP=1407;ExcessHet=0.3672;FS=321.847;InbreedingCoeff=-0.157;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=-0.608;SOR=9.065	GT:AD:DP:GQ:PL	0/1:91,33:124:58:58,0,1650	12	0	3	4
chr6	28529562	28529562	G	A	exonic	GPX5	.	nonsynonymous SNV	GPX5:NM_001509:exon2:c.G199A:p.V67I,GPX5:NM_003996:exon2:c.G199A:p.V67I	.	430	1061	31	0	0	31	0.0143985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	0.0042	0.00459265	0.0061	0.0011	0.0036	0.0117	0.0023	0.0068	0.0022	0.0070	0.0058925	911	154602	rs115051243	0.0051	0.0051	0.0048	0.0053	0.0104	0.0050	0.0050	0.0083	0.0075	0.0010	0.0041	0.0116	0.0054	0.0017	0.0104	0.0051	0.0057	0.0057	0.0044	0.0044	0.0044	0.0044	0.0081	0.0041	0.0040	0.0062	0.0058	0.0007	0	0.0043	0.0101	0.0081	0.0022	0.0068	0.0065	0.0061	0.0033	0.286	0.49117	T	0.165	0.92824	T	0.113	0.26349	B	0.118	0.32088	B	0.018170	0.27545	N	0.332419	0.997416	0.43869	D	2.335	0.66956	M	3.53	0.04852	T	-0.63	0.24898	N	0.309	0.39558	-1.1246	0.02060	T	0.044	0.18989	T	10	0.011705905	0.00255	T	.	.	.	0.111	0.31313	.	.	0.341460817117	0.33762	0.3074882919353545	0.30661	0.222269639404	0.24763	0.494943112135	0.38125	T	0.197752	0.55452	T	-0.482461	0.00715	T	-0.456403	0.26993	T	0.062341605650971	0.07533	T	.	.	.	0.070417956	0.15508	0.1399863	0.33383	0.070417956	0.15508	0.1399863	0.33382	-9.905	0.73341	D	.	.	0.124	0.26232	B	.;.	.;.	2.594325	0.33663	19.41	0.99857656066966582	0.93639	0.90399	0.51544	D	AEFBI	0.435410	0.49605	N	0.36256030562022	0.59407	4.119742	0.294472450407026	0.55217	3.684864	0.921980790944392	0.26692	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.72	2.84	0.32241	5.778000	0.68592	4.419000	0.43309	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.1086:0.0:0.8914:0.0	9.439	0.37819	675	0.60470	.;.	.	.	.	.	rs115051243	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013115	0.005051	0.016304	0.005319	0.000000	0.017241	0.018405	0.019084	0.02632	993.33	33	chr6	28529562	.	G	A	993.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=714;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.333;SOR=0.527	GT:AD:DP:GQ:PL	0/1:44,39:83:99:1007,0,1107	18	0	1	0
chr6	29087019	29087019	G	A	exonic	OR2B3	.	nonsynonymous SNV	OR2B3:NM_001005226:exon1:c.C230T:p.T77I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00178951095871	.	.	1.647e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs767546356	2.052e-06	2.052e-06	2.723e-06	1.375e-06	7.557e-05	5.5e-07	1.5e-07	2.004e-05	1.055e-05	0	0	0	7.557e-05	0	0	0	0	0	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.684	0.04379	T	0.989	0.02371	T	0.034	0.20480	B	0.038	0.23361	B	0.022170	0.26687	U	0.174125	1	0.08975	N	0.01	0.07948	N	5.88	0.00632	T	-1.91	0.44471	N	0.077	0.05162	-0.9952	0.31245	T	0.000	0.00152	T	10	0.04743159	0.04060	T	0.00179	0.03063	T	0.055	0.15663	0.236	0.16608	0.297375071883	0.29337	0.22651449912282642	0.22566	0.0205895813288	0.02023	0.257685065269	0.04620	T	0.033019	0.22737	T	-0.471765	0.00829	T	-0.689733	0.06404	T	0.0444200623901237	0.04497	T	.	.	.	0.054559406	0.10483	0.12587725	0.30323	0.054559406	0.10483	0.12587725	0.30322	-4.602	0.32197	T	.	.	0.121	0.24967	B	.	.	0.937697	0.13134	9.634	0.36054590991674468	0.02298	0.01097	0.04030	N	AEFI	0.026261	0.01940	N	-0.874775260295911	0.11446	0.5523445	-0.739472399175385	0.15981	0.8432277	5.28764911934318E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.9	3.02	0.33970	-0.520000	0.06338	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.3021:0.0:0.6979:0.0	6.838	0.23132	754	0.51307	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	.	.	.	.	.	.	.	.	0.05263	92.83	34	chr6	29087019	.	G	A	92.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.414;DP=1018;ExcessHet=0.119;FS=206.183;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=1.07;SOR=7.824	GT:AD:DP:GQ:PL	0/1:131,25:160:89:89,0,4508	17	0	2	0
chr6	29556010	29556010	G	A	exonic	UBD	.	nonsynonymous SNV	UBD:NM_006398:exon2:c.C368T:p.T123M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0303205515385	0.0011	0.000399361	0.0004	0.0023	0.0002	0	0.0003	0.0003	0.0011	6.149e-05	0.0003169	49	154602	rs149806360	0.0002	0.0002	0.0003	0.0002	0.0021	0.0002	0.0002	0.0017	0.0016	0.0021	0.0002	0	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0007	0.0007	0.0007	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0021	0	0.0003	0	0	0.0005	0	0.0002	0	0	0.005	0.63226	D	0.058	0.46182	T	0.998	0.73220	D	0.906	0.64351	P	0.052395	0.22898	U	0.213437	1	0.81001	D	2.74	0.80084	M	-0.92	0.75108	T	-2.16	0.48850	N	0.224	0.25130	-0.0415	0.81386	T	0.452	0.78603	T	10	0.02164343	0.00522	T	0.030321	0.52653	D	0.376	0.69443	.	.	0.738975683463	0.73664	0.24997169363866067	0.24911	0.612404357912	0.55836	0.539366364479	0.44355	T	0.151325	0.49121	T	-0.311165	0.07646	T	-0.226219	0.52136	T	0.0470319885480876	0.04971	T	.	.	.	0.1334185	0.31033	0.2080408	0.45089	0.1334185	0.31032	0.2080408	0.45088	-6.381	0.49361	T	.	.	0.112	0.21803	B	.	.	2.560059	0.33151	19.26	0.9982458830518165	0.90677	0.17331	0.19790	N	AEFDBI	0.146719	0.27023	N	0.25262861941152	0.53769	3.544	0.116300497824266	0.45383	2.802355	0.999998913052917	0.74766	0.625279	0.40028	0	0.0	0.00010	3	0.590023	0.30420	0	0.59522	0.37078	0	.	.	5.17	5.17	0.70848	2.733000	0.47032	.	.	0.654000	0.53741	0.171000	0.23947	0.917000	0.28245	0.017000	0.10941	0.0:0.0:1.0:0.0	14.174	0.65064	840	0.37365	Ubiquitin domain|Ubiquitin domain|Ubiquitin 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	.	.	.	.	.	.	.	.	0.02632	2466.33	179	chr6	29556010	.	G	A	2466.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.96;DP=2167;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=1.29;SOR=0.725	GT:AD:DP:GQ:PL	0/1:125,89:214:99:2480,0,2989	18	0	1	0
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	17121.2	166	chr6	29942948	.	C	*	17121.2	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.31;DP=1939;ExcessHet=0.0278;FS=7.294;InbreedingCoeff=0.4154;MLEAC=2;MLEAF=0.053;MQ=58.43;MQRankSum=-2.807;QD=19.84;ReadPosRankSum=-0.141;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,19:119:99:.:.:497,0,4142:.	17	0	2	0
chr6	31029720	31029720	C	T	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.C4289T:p.T1430I,MUC22:NM_001318484:exon3:c.C4298T:p.T1433I,MUC22:NM_001322469:exon4:c.C4298T:p.T1433I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0471223506651	.	.	.	.	.	.	.	.	.	.	.	.	.	rs987932110	7.235e-07	6.842e-07	1.428e-06	0	3.181e-05	0	0	.	.	3.181e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.39	0.33842	T	-1.05	0.27463	N	0.06	0.03175	.	.	.	.	.	.	.	0.072134465	0.10728	T	0.047122	0.62778	D	.	.	.	.	0.243972157842	0.24002	0.08108933179167521	0.08043	.	.	0.176699131727	0.00067	T	0.003609	0.03020	T	-0.537969	0.00345	T	-0.746103	0.03640	T	.	.	.	0.453855	0.12912	T	0.028407566	0.02174	0.036015593	0.02965	0.028407566	0.02174	0.036015593	0.02965	-6.443	0.49844	T	.	.	0.214	0.44319	B	.	.	0.907999	0.12825	9.337	0.39376449531450852	0.02713	0.02526	0.07033	N	AEFBI	0.021158	0.00912	N	.	.	.	.	.	.	6.15743525605124E-4	0.07460	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.9	0.984	0.18891	-0.704000	0.05160	.	.	0.438000	0.21043	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5797:0.0:0.4203	5.512	0.16174	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	11406.3	539	chr6	31029720	.	C	T	11406.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.552;DP=12447;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.96;MQRankSum=-0.011;QD=12.74;ReadPosRankSum=0.486;SOR=0.655	GT:AD:DP:GQ:PL	0/1:451,444:895:99:11420,0,12545	18	0	1	0
chr6	31271148	31271148	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G544A:p.A182T,HLA-C:NM_002117:exon3:c.G544A:p.A182T	.	1	1353	168	0	0	168	0.0584551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0240	.	0.0430	0.0121	0.1132	0.0579	0.0499	0.0394	0.0507	0.0168	0.03368	5207	154602	rs141142418	0.0006	0.0028	0.0006	0.0007	0.0011	0.0006	0.0006	0.0006	0.0005	0.0003	0.0008	0.0135	0.0001	0.0008	0.0011	0.0004	0.0009	0.0008	1.469e-05	0.0021	2.82e-05	0	2.718e-05	0	0	.	.	0	0	0	0	0	0	0	2.718e-05	0	0	0.047	0.40319	D	0.121	0.35970	T	0.822	0.45767	P	0.419	0.45047	B	0.795036	0.06734	U	1.179000	1	0.08975	N	.	.	.	5.66	0.00776	T	-0.89	0.24026	N	0.015	0.00181	-0.9671	0.37794	T	0.053	0.22501	T	10	0.0028352141	0.00045	T	.	.	.	0.119	0.33137	.	.	.	.	0.07332682000125977	0.07269	0.70685437836	0.61463	0.316008090973	0.12816	T	0.037375	0.24453	T	-0.522055	0.00428	T	-0.503075	0.22029	T	0.0104027637738938	0.00143	T	0.0633937	0.00461	T	.	.	.	.	.	.	.	.	-6.365	0.49236	T	.	.	0.098	0.18206	B	.;.;.	.;.;.	1.362665	0.17716	13.33	0.98029197626042341	0.37697	0.01653	0.05307	N	AEFGBHCI	0.078452	0.15829	N	-0.785009583433136	0.13700	0.6767906	-1.04354844085745	0.08841	0.4367424	0.999999235206876	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	-2.58	0.05866	-1.307000	0.02841	.	.	-0.270000	0.06752	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1642:0.2513:0.162:0.4225	0.915	0.01221	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	0.054595	0.055556	0.063859	0.009709	0.100000	0.077586	0.064417	0.041667	0.05263	2888.83	224	chr6	31271148	.	C	T	2888.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.632;DP=3136;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=53.52;MQRankSum=6.89;QD=7.2;ReadPosRankSum=1.4;SOR=0.656	GT:AD:DP:GQ:PL	0/1:110,76:186:99:1504,0,4351	17	0	2	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	3519.96	21	chr6	31356431	.	G	*	3519.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.34;DP=961;ExcessHet=2.8292;FS=1.184;InbreedingCoeff=-0.1474;MLEAC=14;MLEAF=0.368;MQ=56.06;MQRankSum=-1.664;QD=4.03;ReadPosRankSum=0.13;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,22:53:99:0|1:31356407_C_G:830,0,1235:31356407	7	2	10	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4067.47	43	chr6	31356716	.	CA	*	4067.47	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.25;DP=1047;ExcessHet=0.3394;FS=8.086;InbreedingCoeff=0.1815;MLEAC=10;MLEAF=0.263;MQ=53.03;MQRankSum=-6.682;QD=5.84;ReadPosRankSum=-0.53;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,31:65:99:0|1:31356712_C_A:2729,1420,1324:31356712	11	2	6	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	10241.9	43	chr6	31356717	.	AGGT	*	10241.9	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.911;DP=1052;ExcessHet=0.3394;FS=8.004;InbreedingCoeff=0.1815;MLEAC=3;MLEAF=0.079;MQ=53.7;MQRankSum=-5.894;QD=14.61;ReadPosRankSum=-0.931;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,34:65:99:0|1:31356715_GC_G:2729,1302,1199:31356715	16	0	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4133.47	43	chr6	31356719	.	GT	*	4133.47	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.13;DP=1058;ExcessHet=0.3394;FS=7.971;InbreedingCoeff=0.1815;MLEAC=10;MLEAF=0.263;MQ=53.9;MQRankSum=-7.228;QD=5.85;ReadPosRankSum=-1.34;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,31:65:99:0|1:31356712_C_A:2729,1420,1324:31356712	11	2	6	0
chr6	31356720	31356720	T	0	exonic	HLA-B	.	.	.	.	2	80	21	0	123	144	0.116022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2127.41	43	chr6	31356720	.	T	*	2127.41	.	AC=12;AF=0.333;AN=36;DP=1057;ExcessHet=0.0278;FS=7.087;InbreedingCoeff=0.3681;MLEAC=12;MLEAF=0.333;MQ=55.52;QD=3.57;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:65:99:1|1:31356712_C_A:1530,103,0:31356712	9	3	6	1
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,102:102:99:1|1:31356729_C_T:4590,307,0:31356729	0	14	5	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	15267.6	189	chr6	31356827	.	T	*	15267.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.098;DP=3185;ExcessHet=5.3738;FS=1.261;InbreedingCoeff=-0.3103;MLEAC=23;MLEAF=0.605;MQ=55.28;MQRankSum=-11.08;QD=4.9;ReadPosRankSum=-1.284;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,86:176:99:0|1:31356809_C_T:3300,0,3480:31356809	3	7	9	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	9298.23	135	chr6	31625601	.	T	C	9298.23	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-2.715;DP=2550;ExcessHet=25.4433;FS=276.319;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=1.09;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,37:153:99:0|1:31625601_T_C:529,0,3856:31625601	1	0	16	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	10016.2	136	chr6	31625602	.	G	A	10016.2	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-3.692;DP=2549;ExcessHet=25.4433;FS=287.442;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=1.15;SOR=12.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,37:153:99:0|1:31625601_T_C:529,0,3856:31625601	1	0	16	2
chr6	32009107	32009107	C	A	exonic	TNXB	.	unknown	UNKNOWN	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	291.72	36	chr6	32009107	.	C	A	291.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-5.622;DP=607;ExcessHet=0;FS=5.051;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=31.08;MQRankSum=-2.102;QD=6.08;ReadPosRankSum=-1.336;SOR=0.048	GT:AD:DP:GQ:PL	0/1:33,15:48:99:305,0,1004	17	0	1	1
chr6	32041842	32041842	C	A	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1849T:p.G617W,TNXB:NM_001365276:exon43:c.G12562T:p.G4188W,TNXB:NM_019105:exon43:c.G12556T:p.G4186W	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.908	0.779008304106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.566e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000099	0.51296	D	0.000000	1	0.81001	D	.	.	.	-5.49	0.99138	D	-5.33	0.93582	D	0.812	0.80767	1.013	0.97405	D	0.986	0.99581	D	10	0.9366356	0.92993	D	0.779008	0.98258	D	0.908	0.97512	.	.	0.754671638406	0.75244	0.7737236296051131	0.77322	3.28525368344	0.99565	0.896864652634	0.96084	D	0.357466	0.72416	T	0.417196	0.90873	D	0.361497	0.90759	D	0.999643683433533	0.98300	D	0.983202	0.95043	D	0.869265	0.88803	0.7606596	0.85859	0.869265	0.88805	0.7606596	0.85859	-17.089	0.99020	D	0.1236965176844058	0.12025	0.972	0.89696	P	.;.;.;.;.	.;.;.;.;.	5.811695	0.93659	33	0.99442270727723703	0.64820	0.98844	0.87601	D	AEFGI	0.909934	0.86721	D	0.957377444383551	0.94275	12.63189	0.835118750017546	0.92116	11.24564	0.999999972053387	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	7.848000	0.85199	.	.	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	16.619	0.84780	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	62.34	30	chr6	32041842	.	C	A	62.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.838;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.026;MQ=29.38;MQRankSum=2;QD=5.19;ReadPosRankSum=-0.98;SOR=0.148	GT:AD:DP:GQ:PL	0/1:9,3:12:76:76,0,250	18	0	1	0
chr6	32521967	32521967	G	0	exonic	HLA-DRB5	.	.	.	.	374	1006	44	2	96	144	0.023301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1660.37	9	chr6	32521967	.	G	*	1660.37	.	AC=4;AF=0.125;AN=32;BaseQRankSum=3.04;DP=3811;ExcessHet=0.0018;FS=12.393;InbreedingCoeff=0.4623;MLEAC=5;MLEAF=0.156;MQ=41.52;MQRankSum=-0.926;QD=3.71;ReadPosRankSum=-2.144;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,59:87:99:.:.:2655,178,0:.	13	1	2	3
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	1395.66	11	chr6	32521970	.	G	*	1395.66	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.94;DP=3885;ExcessHet=12.1646;FS=6.428;InbreedingCoeff=-0.5081;MLEAC=12;MLEAF=0.375;MQ=54.99;MQRankSum=-8.845;QD=0.55;ReadPosRankSum=-4.685;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,28:87:99:0|1:32521954_G_C:998,0,2393:32521954	5	0	11	3
chr6	32521972	32521972	G	0	exonic	HLA-DRB5	.	.	.	.	32	45	61	74	14	223	0.698997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	57856.4	11	chr6	32521972	.	G	*	57856.4	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.71;DP=3814;ExcessHet=0.0858;FS=5.068;InbreedingCoeff=0.2648;MLEAC=2;MLEAF=0.063;MQ=52.1;MQRankSum=-6.836;QD=22.11;ReadPosRankSum=-1.14;SOR=0.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,57:85:99:0|1:32521954_G_C:3569,1176,1004:32521954	14	0	2	3
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,25:113:99:0|1:32530184_T_*:4704,3658,3600:32530184	1	6	12	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	40557.0	113	chr6	32530185	.	T	*	40557.0	.	AC=21;AF=0.583;AN=36;DP=1897;ExcessHet=0.0015;FS=0.786;InbreedingCoeff=0.4685;MLEAC=22;MLEAF=0.611;MQ=55.19;QD=24.54;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,20:107:99:0|1:32530184_T_*:4473,3636,3593:32530184	2	5	11	1
chr6	32584158	32584158	G	T	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon2:c.C321A:p.Y107X	.	38	1273	37	0	174	211	0.0143244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1326	0.0860	0.1891	0.1952	0.1299	0.1319	0.1322	0.1062	0.0914801	14143	154602	rs11554463	0.0011	0.0015	0.0010	0.0012	0.0031	0.0010	0.0010	0.0026	0.0024	0.0011	0.0017	0.0022	0.0031	0.0008	0.0014	0.0008	0.0012	0.0025	0.0094	0.0072	0.0098	0.0089	0.0186	0.0087	0.0084	0.0128	0.0109	0.0055	0.0183	0.0146	0.0145	0.0186	0.0078	0.0200	0.0104	0.0114	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	0.019402	0.01510	N	2.614030	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.27	0.30574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.158225	0.27035	T	0.0633237	0.74465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.513188	0.70700	25.6	0.98600005784927347	0.43493	0.15870	0.19121	N	ALL	0.134508	0.25455	N	-0.269699894769455	0.30323	1.689784	-0.635027386912684	0.18595	0.9940822	0.999708401555777	0.41986	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-1.18	0.09122	0.618000	0.24068	.	.	-0.626000	0.04528	0.548000	0.27330	0.000000	0.08366	0.001000	0.02609	0.0982:0.4365:0.4653:0.0	8.251	0.30877	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	12357.7	355	chr6	32584158	.	G	T	12357.7	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.809;DP=3470;ExcessHet=0.7564;FS=6.487;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=53.18;MQRankSum=7.66;QD=11.69;ReadPosRankSum=-0.133;SOR=1.181	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:170,56:250:99:.:.:1840,0,6970:.	16	0	3	0
chr6	32584159	32584159	T	A	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.A320T:p.Y107F	.	19	1485	18	0	0	18	0.0060241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00156880872508	.	.	2.882e-05	0	0	0	0	5.168e-05	0	0	.	.	.	rs17879620	8.159e-07	8.338e-06	1.635e-06	0	1.075e-06	0	0	.	.	0	0	0	0	0	0	1.075e-06	0	0	8.192e-06	1.363e-05	0	1.699e-05	1.716e-05	0	0	.	.	0	0	0	0	0	0	0	1.716e-05	0	0	0.1	0.30515	T	0.665	0.06406	T	0.001	0.07471	B	0.004	0.10090	B	0.019402	0.01510	N	2.614030	1	0.08975	N	.	.	.	7.94	0.00325	T	-1.31	0.32791	N	0.069	0.04188	-0.9609	0.39012	T	0.000	0.00075	T	10	0.08406469	0.14051	T	0.001569	0.02497	T	0.146	0.38789	.	.	0.141422826196	0.13715	0.14657268009090976	0.14579	0.665335666029	0.59136	.	.	.	0.015807	0.13185	T	-0.216582	0.18463	T	-0.548881	0.17432	T	0.139853916937205	0.16262	T	0.0555944	0.00401	T	0.29195747	0.52174	0.137562	0.32877	0.29195747	0.52174	0.137562	0.32876	-3.39	0.14922	T	.	.	0.096	0.15251	B	.	.	-2.347648	0.00046	0.001	0.65931025823746126	0.07913	0.00346	0.01789	N	ALL	0.113848	0.22447	N	-1.49287139486699	0.01900	0.08336921	-1.65846557971035	0.01332	0.06014232	0.999999990042277	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-6.97	0.01459	-0.933000	0.04067	.	.	-1.911000	0.00515	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7845:0.0:0.0954:0.1201	10.384	0.43310	934	0.15400	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	.	.	.	.	.	.	.	.	0.02632	436.33	355	chr6	32584159	.	T	A	436.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.4;DP=3447;ExcessHet=0;FS=17.249;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.89;MQRankSum=-2.806;QD=1.72;ReadPosRankSum=-4.837;SOR=2.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:227,27:254:99:0|1:32584159_T_A:450,0,9450:32584159	18	0	1	0
chr6	32584160	32584160	A	C	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.T319G:p.Y107D	.	19	1485	18	0	0	18	0.0060241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0015101555701	.	.	2.877e-05	0	0	0	0	5.155e-05	0	0	.	.	.	rs17884043	0	1.251e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.201e-06	1.364e-05	0	1.702e-05	1.716e-05	0	0	.	.	0	0	0	0	0	0	0	1.716e-05	0	0	0.0	0.91255	D	0.04	0.50809	D	0.997	0.70673	D	0.933	0.66815	D	0.019402	0.01510	N	2.614030	1	0.08975	N	.	.	.	7.84	0.00333	T	-5.53	0.86073	D	0.416	0.45615	-0.9779	0.35481	T	0.002	0.00526	T	10	0.40084913	0.55556	T	0.00151	0.02343	T	0.132	0.35948	.	.	0.552367828057	0.54894	0.6090491175066671	0.60836	2.30488031714	0.96506	.	.	.	0.016375	0.13546	T	-0.11443	0.34038	T	-0.402147	0.33136	T	0.985079526901245	0.76178	D	0.0585941	0.00423	T	0.5864999	0.71962	0.74983215	0.85213	0.5864999	0.71963	0.74983215	0.85214	-7.351	0.56558	T	.	.	0.452	0.62301	A	.	.	1.181034	0.15714	12.05	0.96272771664347634	0.29254	0.02291	0.06595	N	ALL	0.194799	0.32186	N	-0.359321827760937	0.26931	1.473667	-0.767686247680322	0.15289	0.8033058	0.999984616475046	0.51787	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-5.14	0.02656	-1.694000	0.02016	.	.	-0.543000	0.04927	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2061:0.6597:0.0:0.1342	8.996	0.35216	934	0.15400	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	.	.	.	.	.	.	.	.	0.02632	430.33	355	chr6	32584160	.	A	C	430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=3449;ExcessHet=0;FS=17.149;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.93;MQRankSum=-2.837;QD=1.68;ReadPosRankSum=-4.804;SOR=2.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:229,27:256:99:0|1:32584159_T_A:444,0,9534:32584159	18	0	1	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	8530.17	402	chr6	32584178	.	G	*	8530.17	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.31;DP=4315;ExcessHet=3.6106;FS=1.159;InbreedingCoeff=-0.1709;MLEAC=18;MLEAF=0.474;MQ=53.54;MQRankSum=-3.51;QD=2.37;ReadPosRankSum=0.706;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:73,93:313:99:.:.:6848,3150,5843:.	3	2	14	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	16238.5	406	chr6	32584184	.	G	*	16238.5	.	AC=4;AF=0.111;AN=36;BaseQRankSum=3.23;DP=4565;ExcessHet=1.7862;FS=4.279;InbreedingCoeff=-0.0915;MLEAC=4;MLEAF=0.111;MQ=51.6;MQRankSum=-0.956;QD=7.63;ReadPosRankSum=-2.774;SOR=1.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,143:332:99:0|1:32584159_T_A:5574,0,5374:32584159	15	1	2	1
chr6	32584280	32584280	C	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.G199C:p.V67L	.	1	1389	105	1	26	133	0.0370884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	.	.	.	0.0204	0.0214	0.0272	0.0104	0.0245	0.0234	0.0154	0.0068	0.0077993	203	26028	rs17878614	0.0002	0.0028	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0002	0.0002	4.679e-05	0	5.842e-05	0.0003	0	0.0003	0.0002	1.237e-05	0.0003	0.0034	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0003	0.0003	0	0.0004	0	0.0005	0.0004	0	0.0004	0	0	0.226	0.18562	T	0.298	0.20486	T	0.0	0.02946	B	0.0	0.01387	B	0.839475	0.06991	N	1.086700	1	0.08975	N	.	.	.	7.94	0.00325	T	-1.68	0.40082	N	0.034	0.00942	-0.9628	0.38645	T	0.000	0.00039	T	10	0.0073911548	0.00168	T	.	.	.	0.344	0.66582	0.357	0.35897	.	.	0.2725535461198692	0.27168	0.70435521742	0.61311	.	.	.	0.017737	0.14423	T	-0.487391	0.00672	T	-0.472202	0.25279	T	0.01040418298686	0.00143	T	0.0464954	0.00331	T	0.43241236	0.62909	0.15221174	0.35821	0.43241236	0.62910	0.15221174	0.35820	-5.471	0.41596	T	.	.	0.165	0.36375	B	.	.	-0.978415	0.00802	0.026	0.41590716082416673	0.03011	0.01461	0.04883	N	AEFDGBCIJ	0.181378	0.30869	N	-2.69307713427383	0.00005	0.0002449113	-2.79087809953605	0.00004	0.0002126685	0.999999999857912	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.616125	0.45549	0	.	.	3.52	-7.04	0.01423	-2.303000	0.01216	.	.	-4.118000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1964:0.2042:0.3874:0.212	2.062	0.03376	934	0.15400	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	0.083246	0.121212	0.117166	0.037037	0.100000	0.087719	0.060976	0.041985	0.05263	7552.83	577	chr6	32584280	.	C	G	7552.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.39;DP=8338;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=54.6;MQRankSum=2.42;QD=7.17;ReadPosRankSum=-0.695;SOR=0.719	GT:AD:DP:GQ:PL	0/1:455,140:595:99:4273,0,18416	17	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	182826.0	404	chr6	32584353	.	C	*	182826.0	.	AC=1;AF=0.028;AN=36;BaseQRankSum=6.09;DP=6711;ExcessHet=0.2833;FS=3.963;InbreedingCoeff=0.0877;MLEAC=1;MLEAF=0.028;MQ=54.34;MQRankSum=-14.02;QD=30.95;ReadPosRankSum=1.01;SOR=1.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,94:420:99:.:.:17636,13689,13406:.	17	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	171572.0	397	chr6	32584354	.	C	*	171572.0	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.64;DP=6646;ExcessHet=2.8292;FS=5.961;InbreedingCoeff=-0.2063;MLEAC=1;MLEAF=0.028;MQ=54.31;MQRankSum=-12.22;QD=29.22;ReadPosRankSum=0.616;SOR=1.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,87:411:99:.:.:14579,11020,12059:.	17	0	1	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	53026.9	322	chr6	32584370	.	G	*	53026.9	.	AC=15;AF=0.417;AN=36;BaseQRankSum=3.39;DP=5457;ExcessHet=0.2833;FS=5.809;InbreedingCoeff=0.0877;MLEAC=15;MLEAF=0.417;MQ=53.43;MQRankSum=-13.94;QD=10.7;ReadPosRankSum=-1.02;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:68,102:308:99:.:.:7198,2951,5488:.	3	0	15	1
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016507	0.035354	0.010870	0.034188	0.050000	0.000000	0.021341	0.007576	0.1316	7491.37	357	chr6	32589684	.	A	G	7491.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.156;DP=3888;ExcessHet=1.3;FS=0.686;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=46.8;MQRankSum=0.896;QD=4.94;ReadPosRankSum=1.18;SOR=0.619	GT:AD:DP:GQ:PL	0/1:272,40:312:99:841,0,11268	14	0	5	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8228.31	130	chr6	32641462	.	G	*	8228.31	.	AC=20;AF=0.526;AN=38;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=56.58;QD=2.65;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,51:251:99:0|1:32641430_C_T:1539,0,8244:32641430	3	4	12	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8147.31	129	chr6	32641464	.	T	*	8147.31	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.229;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=57.44;MQRankSum=-9.417;QD=2.64;ReadPosRankSum=-2.677;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:188,49:239:99:.:.:1462,0,8117:.	3	4	12	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	103383.0	261	chr6	32664917	.	C	A	103383.0	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.913;DP=4733;ExcessHet=1.7862;FS=2.506;InbreedingCoeff=-0.0523;MLEAC=7;MLEAF=0.184;MQ=59.58;MQRankSum=-0.09;QD=25.85;ReadPosRankSum=0.279;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,24:304:99:0|1:32664917_C_A:165,0,11685:32664917	12	0	7	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	5027.38	268	chr6	32664926	.	G	A	5027.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=5.58;DP=4649;ExcessHet=2.9153;FS=1.642;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.8;MQRankSum=-9.658;QD=3.27;ReadPosRankSum=-3.733;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,30:308:99:0|1:32664917_C_A:390,0,11549:32664917	12	0	7	0
chr6	32976813	32976813	G	C	exonic	BRD2	.	nonsynonymous SNV	BRD2:NM_001199455:exon6:c.G1077C:p.E359D,BRD2:NM_001199456:exon6:c.G936C:p.E312D,BRD2:NM_001113182:exon7:c.G1077C:p.E359D,BRD2:NM_005104:exon7:c.G1077C:p.E359D,BRD2:NM_001291986:exon8:c.G717C:p.E239D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00495405745945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.37118	T	0.074	0.50809	T	0.859	0.47319	P	0.583	0.50264	P	0.000100	0.51296	D	0.000000	0.999954	0.52396	D	1.39	0.34934	L	1.69	0.27032	T	-2.46	0.54382	N	0.374	0.41656	-0.9159	0.46103	T	0.139	0.45791	T	10	0.7555315	0.75953	D	0.004954	0.12473	T	0.214	0.50650	0.764	0.89213	0.795092722254	0.79318	0.38390423038742355	0.38305	.	.	0.88716673851	0.94903	D	0.25597	0.62682	T	-0.0318077	0.47154	T	-0.283466	0.46448	T	0.861240744590759	0.51164	D	0.932807	0.74830	D	0.2851387	0.51537	0.24049516	0.49424	0.2851387	0.51536	0.24049516	0.49423	-8.011	0.62707	D	.	.	0.316	0.68110	B	.;.;.;.;.	.;.;.;.;.	1.317149	0.17209	13.02	0.99724235207631218	0.82266	0.64946	0.32573	D	AEFBHCI	0.651563	0.62527	D	-0.254297126603731	0.30933	1.729516	-0.327949304023803	0.27200	1.507636	0.999993130444119	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.08	-0.139	0.12803	0.063000	0.14285	.	.	-0.748000	0.03609	0.005000	0.17040	0.997000	0.33255	0.984000	0.60418	0.4072:0.0:0.5928:0.0	9.394	0.37553	906	0.23090	Bromodomain|Bromodomain;Bromodomain|Bromodomain;Bromodomain|Bromodomain;.;Bromodomain|Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2816.55	208	chr6	32976813	.	G	C	2816.55	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-4.205;DP=2575;ExcessHet=11.1788;FS=157.461;InbreedingCoeff=-0.4982;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.4;SOR=11.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,16:120:99:.:.:106,0,3411:.	12	0	6	1
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3929	1348.65	63	chr6	34528878	.	G	C	1348.65	.	AC=11;AF=0.393;AN=28;BaseQRankSum=-0.071;DP=1240;ExcessHet=8.9063;FS=128.695;InbreedingCoeff=-0.5447;MLEAC=13;MLEAF=0.464;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=0.798;SOR=10.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,27:80:99:.:.:272,0,987:.	3	0	11	5
chr6	35241648	35241648	G	A	exonic	SCUBE3	.	nonsynonymous SNV	SCUBE3:NM_001303136:exon11:c.G1298A:p.R433Q,SCUBE3:NM_152753:exon11:c.G1301A:p.R434Q	.	.	.	.	.	.	.	.	.	.	.	2822978	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.316	0.0528404780671	0.0018	0.000599042	0.0014	0.0002	0.0004	0	0.0011	0.0021	0	0.0006	0.0014942	231	154602	rs141661914	0.0022	0.0023	0.0022	0.0023	0.0027	0.0022	0.0022	0.0027	0.0026	0.0004	0.0007	0.0003	0	0.0009	0.0019	0.0027	0.0016	0.0004	0.0014	0.0014	0.0014	0.0013	0.0025	0.0012	0.0012	0.0022	0.0020	0.0004	0	0.0008	0	0	0.0009	0.0068	0.0025	0.0005	0	0.539	0.06824	T	0.315	0.19421	T	0.913	0.50474	P	0.158	0.34617	B	0.000000	0.84330	D	0.052897	0.999709	0.48408	D	1.15	0.29295	L	-1.61	0.82254	D	-0.35	0.12847	N	0.203	0.22486	-0.6217	0.63918	T	0.243	0.61154	T	10	0.012103975	0.00261	T	0.05284	0.65233	D	0.316	0.63799	.	.	0.765502756218	0.76336	0.4931044712262911	0.49231	1.00506720393	0.74559	0.34208971262	0.16751	T	0.051	0.28612	T	-0.300587	0.08605	T	-0.202214	0.54437	T	0.0279728245438772	0.01684	T	0.975069	0.91165	D	0.16940765	0.37455	0.14295916	0.33993	0.16940765	0.37454	0.14295916	0.33992	-3.47	0.16014	T	.	.	0.096	0.15564	B	.	.	3.968249	0.58246	24.0	0.99687093604464116	0.79641	0.90357	0.51468	D	AEFDBCI	0.575166	0.57766	D	0.122767568732983	0.47525	2.977131	0.206034481605013	0.50182	3.212956	0.999991231405704	0.74766	0.65861	0.49226	0	0.61073	0.52368	0	0.298653	0.05632	1	0.345915	0.05782	2	.	.	5.61	5.61	0.85347	2.032000	0.40747	8.676000	0.78026	0.676000	0.76740	0.989000	0.36753	1.000000	0.68203	0.704000	0.34264	0.0:0.0:0.8531:0.1469	14.478	0.67138	248	0.90287	.	.	.	.	.	.	Likely benign	0	0	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	874.33	40	chr6	35241648	.	G	A	874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.084;DP=775;ExcessHet=0;FS=6.393;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=1.14;SOR=0.41	GT:AD:DP:GQ:PL	0/1:70,39:109:99:888,0,1873	18	0	1	0
chr6	38737092	38737092	C	A	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon5:c.C137A:p.A46E,DNAH8:NM_001206927:exon6:c.C788A:p.A263E	.	433	1088	1	0	0	1	0.000459348	.	.	.	395277	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.235	0.0178620157948	.	0.000798722	0.0006	0	0	0.0069	0	6.009e-05	0.0011	0.0002	0.0005045	78	154602	rs145115573	0.0003	0.0003	0.0003	0.0003	0.0086	0.0003	0.0002	0.0078	0.0075	0	0	0	0.0086	0	0.0002	1.372e-05	0.0003	0.0005	0.0003	0.0003	0.0002	0.0004	0.0073	0.0002	0.0002	0.0055	0.0049	0	0	0	0	0.0073	0	0	2.941e-05	0	0.0008	0.117	0.28271	T	.	.	.	0.838	0.46404	P	0.545	0.49043	P	0.000001	0.84330	D	0.000000	0.99804	0.44449	D	2.155	0.60227	M	1.57	0.29342	T	-2.92	0.61129	D	0.75	0.78167	-1.1038	0.03661	T	0.044	0.19111	T	10	0.023275465	0.00604	T	0.017862	0.39721	T	0.235	0.53788	.	.	0.82547625988	0.82382	0.7631398046710963	0.76261	0.270684308587	0.29596	0.497535169125	0.38485	T	0.065762	0.34312	T	-0.304488	0.08243	T	-0.204743	0.54198	T	0.108728255148306	0.13292	T	0.847215	0.52823	T	0.35529655	0.57476	0.3584101	0.61318	0.31372967	0.54106	0.34197113	0.59929	-3.069	0.10943	T	.	.	0.942	0.86137	P	.;.;.	.;.;.	1.796548	0.22833	15.78	0.98919149188317268	0.48527	0.91065	0.52791	D	AEFBI	0.217943	0.34301	N	0.224119867969692	0.52370	3.411607	0.224563004348135	0.51215	3.305867	8.68807229963465E-4	0.07931	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.2	4.33	0.51083	1.901000	0.39469	1.073000	0.23822	0.545000	0.25583	0.936000	0.32490	0.527000	0.25341	0.906000	0.44173	0.0:0.7772:0.1445:0.0782	9.205	0.36446	623	0.65786	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1065.33	34	chr6	38737092	.	C	A	1065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.295;DP=720;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.133;SOR=0.933	GT:AD:DP:GQ:PL	0/1:54,47:101:99:1079,0,1239	18	0	1	0
chr6	39879422	39879422	G	A	exonic	DAAM2	.	nonsynonymous SNV	DAAM2:NM_001201427:exon14:c.G1790A:p.R597H,DAAM2:NM_015345:exon14:c.G1790A:p.R597H	.	424	1095	1	1	1	4	0.00136799	.	.	.	3190753	DAAM2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.081	0.0102626355573	.	0.00239617	0.0012	0.0001	0.0009	0.0078	0	0.0002	0.0011	0.0028	0.0010026	155	154602	rs181701991	0.0005	0.0005	0.0005	0.0006	0.0068	0.0005	0.0005	0.0061	0.0058	0.0001	0.0008	0	0.0068	0	0.0007	0.0002	0.0009	0.0020	0.0006	0.0006	0.0005	0.0006	0.0086	0.0005	0.0004	0.0066	0.0058	0.0001	0	0.0007	0	0.0086	0	0	0.0002	0	0.0027	0.136	0.27904	T	0.117	0.36365	T	0.999	0.77913	D	0.93	0.66466	D	0.206470	0.16470	N	0.620813	1	0.08975	N	0.345	0.11182	N	2.24	0.17923	T	-0.37	0.13226	N	0.047	0.01911	-1.0474	0.15130	T	0.023	0.09741	T	10	0.005448818	0.00120	T	0.010263	0.26588	T	0.081	0.23632	.	.	0.391826234366	0.38797	0.11908975775731323	0.11835	0.322070072884	0.34403	0.26938700676	0.06061	T	0.041428	0.25853	T	-0.70078	0.00036	T	-0.772434	0.02689	T	0.0327032007981698	0.02422	T	0.816118	0.47665	T	0.029877253	0.02556	0.034759685	0.02602	0.029877253	0.02556	0.034759685	0.02602	-2.989	0.10063	T	.	.	0.073	0.05845	B	.;.;.;.	.;.;.;.	3.911630	0.57044	23.8	0.9954846617320503	0.70961	0.44330	0.27294	N	AEFDBI	0.144315	0.26724	N	-0.306576392876232	0.28897	1.597817	-0.384883995339411	0.25447	1.39948	0.999959306363202	0.48110	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.15	-1.29	0.08805	1.335000	0.33444	2.404000	0.32608	-0.743000	0.03651	0.997000	0.40164	1.000000	0.68203	0.041000	0.14368	0.4393:0.2235:0.3372:0.0	6.643	0.22108	665	0.61472	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;.;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1262.33	35	chr6	39879422	.	G	A	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.825;DP=747;ExcessHet=0;FS=0.757;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.813;SOR=0.813	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1276,0,1060	18	0	1	0
chr6	41158881	41158881	G	A	exonic	TREM2	.	nonsynonymous SNV	TREM2:NM_018965:exon4:c.C668T:p.T223I	Nasu-Hakola disease, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	.	722029	not_provided|Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_2|TREM2-related_disorder	MedGen:C3661900|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00261150228949	0.0005	0.00139776	0.0009	0	0.0010	0	0	0.0004	0	0.0045	0.0007891	122	154602	rs138355759	0.0006	0.0006	0.0004	0.0008	0.0044	0.0006	0.0006	0.0041	0.0039	2.987e-05	0.0005	0.0004	2.519e-05	3.744e-05	0.0016	0.0004	0.0006	0.0044	0.0005	0.0005	0.0003	0.0006	0.0064	0.0004	0.0003	0.0046	0.0040	2.405e-05	0	0	0.0003	0	0	0	0.0005	0.0014	0.0064	0.364	0.11770	T	0.268	0.22494	T	0.005	0.12996	B	0.004	0.10090	B	0.244508	0.03605	N	1.513640	1	0.08975	N	1.405	0.35469	L	1.11	0.38883	T	-2.17	0.49018	N	0.05	0.02179	-1.0757	0.08205	T	0.029	0.12365	T	10	0.0056200624	0.00125	T	0.002612	0.05292	T	0.041	0.10877	.	.	0.12205267543	0.11705	0.48500474811497263	0.48420	0.160309896922	0.18085	0.402808666229	0.25460	T	0.13049	0.45941	T	-0.615168	0.00118	T	-0.656156	0.08528	T	0.0205872413831608	0.00758	T	0.659534	0.26859	T	0.025529774	0.01501	0.044397697	0.05743	0.02775539	0.02012	0.05280459	0.08771	-4.299	0.28163	T	.	.	0.110	0.21049	B	.	.	1.082052	0.14654	11.21	0.68599359743891264	0.08708	0.04478	0.10091	N	AEFDBI	0.058928	0.11091	N	-1.18949030238923	0.05158	0.2344878	-1.20375111954558	0.05849	0.2798811	0.955505922832804	0.28193	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.92	0.957	0.18736	0.753000	0.26042	2.700000	0.34154	-0.785000	0.03297	0.201000	0.24320	0.130000	0.22991	0.294000	0.24357	0.1929:0.1682:0.4654:0.1735	1.477	0.02281	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1907.33	36	chr6	41158881	.	G	A	1907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.126;DP=776;ExcessHet=0;FS=1.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.798;SOR=0.654	GT:AD:DP:GQ:PL	0/1:72,70:142:99:1921,0,1908	18	0	1	0
chr6	44282286	44282286	T	G	exonic	TCTE1	.	nonsynonymous SNV	TCTE1:NM_182539:exon4:c.A1120C:p.I374L	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00607781148537	0.0005	.	0.0004	0.0002	0	0	0	0.0007	0	6.056e-05	0.0003493	54	154602	rs144702034	0.0004	0.0004	0.0004	0.0004	0.0061	0.0004	0.0004	0.0045	0.0039	0.0003	8.944e-05	0.0146	0	0	0.0061	9.442e-05	0.0012	3.478e-05	0.0004	0.0004	0.0005	0.0002	0.0002	0.0003	0.0003	0.0001	7.894e-05	4.824e-05	0	6.545e-05	0.0121	0	0	0	0.0002	0.0005	0	0.739	0.03708	T	0.898	0.03065	T	0.005	0.12996	B	0.007	0.12992	B	0.019567	0.27228	N	0.390235	0.979376	0.81001	D	.	.	.	0.68	0.51952	T	0.03	0.06612	N	0.15	0.15328	-1.0568	0.12569	T	0.028	0.11926	T	10	0.0053301454	0.00117	T	0.006078	0.15905	T	0.077	0.22490	.	.	0.0884992946249	0.08302	0.2937180561920451	0.29284	0.329308758953	0.35042	0.372744947672	0.21225	T	0.007762	0.07145	T	-0.405689	0.02124	T	-0.551221	0.17209	T	0.0237948741906698	0.01119	T	0.710329	0.32115	T	0.06907593	0.15103	0.048939843	0.07375	0.06907593	0.15103	0.048939843	0.07375	-4.127	0.25687	T	.	.	0.125	0.26263	B	.	.	1.551661	0.19886	14.49	0.96115629843551575	0.28757	0.75509	0.36974	D	AEFGBI	0.230770	0.35410	N	-0.478498794117698	0.22787	1.219166	-0.284163241708931	0.28620	1.597132	0.254538872261828	0.18718	0.490419	0.18000	1	0.563428	0.19063	0	0.667716	0.60424	0	0.530356	0.10902	0	.	.	5.22	4.03	0.46115	0.124000	0.15557	4.225000	0.42617	0.665000	0.62972	0.977000	0.34929	1.000000	0.68203	0.772000	0.36596	0.0:0.1529:0.1603:0.6868	5.208	0.14625	724	0.55085	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.017544	0.050000	0.000000	0.003049	0.000000	0.02632	3104.33	36	chr6	44282286	.	T	G	3104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=851;ExcessHet=0;FS=6.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=-2.547;SOR=0.731	GT:AD:DP:GQ:PL	0/1:87,103:190:99:3118,0,2378	18	0	1	0
chr6	44286263	44286263	G	A	exonic	TCTE1	.	nonsynonymous SNV	TCTE1:NM_182539:exon3:c.C547T:p.L183F	.	415	1100	7	0	0	7	0.00317173	.	.	.	3206502	TCTE1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.054	.	.	0.00479233	0.0039	0.0001	0.0002	0	0	1.537e-05	0.0011	0.0278	0.0032535	503	154602	rs201180749	0.0017	0.0017	0.0010	0.0025	0.0275	0.0017	0.0017	0.0266	0.0262	8.961e-05	0	0	5.038e-05	0	0.0014	2.788e-05	0.0019	0.0275	0.0008	0.0008	0.0003	0.0012	0.0232	0.0006	0.0006	0.0197	0.0184	9.618e-05	0	0	0	0	0	0	0	0	0.0232	0.142	0.40068	T	0.037	0.51737	D	0.034	0.20480	B	0.029	0.21540	B	0.000196	0.48115	N	0.185768	0.978989	0.81001	D	.	.	.	1.71	0.55945	T	-2.71	0.61722	D	0.208	0.41360	-1.0550	0.13040	T	0.073	0.29707	T	10	0.0068954527	0.00157	T	.	.	.	0.054	0.15330	0.356	0.35734	0.195762928549	0.19159	0.629521578012924	0.62886	0.498997635455	0.48355	0.438099056482	0.30317	T	0.109621	0.42365	T	-0.520648	0.00436	T	-0.499702	0.22378	T	0.0339801288012856	0.02635	T	0.793521	0.43550	T	0.1474151	0.33702	0.17812745	0.40460	0.1474151	0.33701	0.17812745	0.40460	-7.716	0.59119	D	.	.	0.096	0.26074	B	.;.	.;.	2.917690	0.38724	20.8	0.99191023623751862	0.54965	0.25506	0.22719	N	AEFBCI	0.348796	0.44281	N	-0.304830405602377	0.28964	1.60208	-0.228072110993665	0.30536	1.720077	0.359148880160979	0.19760	0.549168	0.22868	0	0.610034	0.51514	0	0.590023	0.30420	0	0.542086	0.14980	0	.	.	5.16	3.38	0.37806	3.893000	0.55955	6.749000	0.56505	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.311000	0.24761	0.1495:0.0:0.8505:0.0	11.158	0.47725	783	0.47268	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2475.33	39	chr6	44286263	.	G	A	2475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.484;DP=917;ExcessHet=0;FS=7.22;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-1.001;SOR=0.603	GT:AD:DP:GQ:PL	0/1:89,100:189:99:2489,0,2225	18	0	1	0
chr6	44300553	44300553	C	G	exonic	AARS2	.	nonsynonymous SNV	AARS2:NM_020745:exon22:c.G2952C:p.Q984H	Combined oxidative phosphorylation deficiency 8, Autosomal recessive;Leukoencephalopathy, progressive, with ovarian failure, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1190520	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.158	0.0412117860732	.	.	0.0006	0	8.639e-05	0	0	0	0.0011	0.0041	0.0004528	70	154602	rs760967545	0.0002	0.0002	0.0001	0.0004	0.0039	0.0002	0.0002	0.0036	0.0034	0	2.236e-05	0	0	0	0.0002	6.295e-06	0.0003	0.0039	9.19e-05	9.186e-05	1.285e-05	0.0002	0.0027	5.522e-05	4.361e-05	0.0016	0.0013	2.405e-05	0	0	0	0	0	0	0	0	0.0027	0.009	0.57480	D	0.014	0.62352	D	0.981	0.59675	D	0.592	0.50503	P	0.004357	0.33837	N	0.302707	0.767686	0.81001	D	1.245	0.31408	L	-0.08	0.63911	T	-2.02	0.46503	N	0.18	0.19459	-0.8848	0.49373	T	0.089	0.34408	T	10	0.010703385	0.00237	T	0.041212	0.59806	D	0.158	0.41098	0.218	0.13932	0.796551075559	0.79465	0.3508327743899962	0.34997	0.620502415664	0.56365	0.36597764492	0.20253	T	0.020993	0.16426	T	-0.358122	0.04237	T	-0.287475	0.46033	T	0.117623947087596	0.14195	T	0.284172	0.05010	T	0.48817956	0.66394	0.25006953	0.50590	0.48817956	0.66395	0.25006953	0.50589	-4.536	0.31356	T	.	.	0.152	0.33732	B	.	.	3.092541	0.41643	21.4	0.99749467578759643	0.84152	0.92087	0.54916	D	AEFBCI	0.229196	0.35275	N	0.193445750043728	0.50884	3.274296	0.281611896073176	0.54466	3.611522	0.31372256166002	0.19314	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.06	5.2	0.71720	0.560000	0.23204	0.005000	0.13351	0.599000	0.40250	1.000000	0.71638	0.772000	0.26708	0.818000	0.38543	0.0:0.8519:0.0:0.1481	10.978	0.46689	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2290.33	33	chr6	44300553	.	C	G	2290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.571;DP=776;ExcessHet=0;FS=3.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=0.075;SOR=0.482	GT:AD:DP:GQ:PL	0/1:61,88:149:99:2304,0,1500	18	0	1	0
chr6	47503301	47503301	A	G	exonic	CD2AP	.	nonsynonymous SNV	CD2AP:NM_012120:exon2:c.A26G:p.D9G	Glomerulosclerosis, focal segmental, 3	1	1519	2	0	0	2	0.000657895	.	.	.	991524	not_provided|Focal_segmental_glomerulosclerosis_3,_susceptibility_to	MedGen:C3661900|MONDO:MONDO:0011917,MedGen:C1842982,OMIM:607832,Orphanet:656	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.529	0.0558101485702	7.7e-05	.	0.0001	0	8.651e-05	0	0	0.0001	0.0011	0.0001	8.41e-05	13	154602	rs367952819	6.774e-05	6.772e-05	4.765e-05	8.803e-05	0.0004	5.671e-05	5.262e-05	0.0003	0.0002	0	0.0001	0.0016	0	0	0	9.894e-06	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0004	7.573e-05	6.279e-05	0.0002	0.0001	0	0	0.0004	0.0029	0	0	0	0	0.0005	0.0002	0.006	0.61437	D	0.003	0.76473	D	1.0	0.90584	D	0.99	0.78936	D	0.000826	0.41547	D	0.295074	0.999991	0.58761	D	3.825	0.95591	H	0.4	0.57261	T	-4.87	0.81269	D	0.711	0.71410	-0.3915	0.72294	T	0.290	0.66133	T	10	0.42039317	0.56824	T	0.05581	0.66374	D	0.529	0.80128	.	.	0.695972301561	0.69335	0.5747412154089172	0.57403	0.364936172264	0.38099	0.859982550144	0.91109	D	0.367821	0.73283	T	-0.124366	0.32411	T	-0.116096	0.62122	T	0.969168722629547	0.68494	D	0.955204	0.82942	D	0.61331165	0.73406	0.52217454	0.72394	0.61331165	0.73407	0.52217454	0.72395	-9.223	0.69121	D	0.6807414548324721	0.75708	0.604	0.69057	P	.	.	4.877856	0.79967	27.2	0.9986847674531194	0.94637	0.97244	0.73544	D	AEFDBCI	0.844123	0.76110	D	0.783433652980668	0.85060	8.464612	0.718245451620623	0.83765	8.108229	0.999999741927087	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	8.544000	0.90458	11.045000	0.85225	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.148	0.64894	532	0.73501	SH3 domain|SH3 domain|SH3 domain|SH3 domain|CD2-associated protein, first SH3 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	723.33	33	chr6	47503301	.	A	G	723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.03;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.398;SOR=0.693	GT:AD:DP:GQ:PL	0/1:30,30:60:99:737,0,789	18	0	1	0
chr6	70163382	70163382	G	A	exonic	COL19A1	.	nonsynonymous SNV	COL19A1:NM_001858:exon36:c.G2386A:p.A796T	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0059062371744	0.0002	0.00179712	0.0014	0.0001	0.0005	0	0	0.0003	0	0.0088	0.0011061	171	154602	rs147345076	0.0007	0.0007	0.0005	0.0010	0.0091	0.0007	0.0007	0.0086	0.0084	0	8.957e-05	0	2.539e-05	0	0.0035	0.0002	0.0009	0.0091	0.0004	0.0004	0.0003	0.0004	0.0077	0.0003	0.0003	0.0057	0.0050	2.406e-05	0	0	0	0	0	0	0.0002	0.0009	0.0077	.	.	.	0.557	0.09205	T	0.001	0.07471	B	0.007	0.12992	B	0.044833	0.23598	N	0.447995	0.969344	0.27507	N	1.605	0.40863	L	.	.	.	.	.	.	0.103	0.08646	-0.7064	0.60130	T	0.371	0.73016	T	10	0.008828789	0.00200	T	0.005906	0.15371	T	.	.	.	.	0.560605342602	0.55722	0.0953775236832185	0.09469	.	.	0.280119299889	0.07509	T	0.383421	0.74528	T	-0.553949	0.00276	T	-0.563218	0.16076	T	0.0231828349635425	0.01045	T	0.912309	0.68816	D	0.030584447	0.02747	0.040373493	0.04349	0.030584447	0.02747	0.040373493	0.04349	-4.345	0.28802	T	.	.	0.065	0.02012	B	.	.	1.290775	0.16917	12.84	0.90337530306901503	0.19602	0.28940	0.23689	N	AEFBCI	0.093893	0.18991	N	-0.556364358552131	0.20284	1.068209	-0.422872475246663	0.24328	1.331563	0.999742977020564	0.42466	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.06	2.1	0.26226	-0.387000	0.07419	0.454000	0.18551	0.676000	0.76740	0.543000	0.27291	0.033000	0.21346	0.991000	0.66497	0.3422:0.0:0.4428:0.215	4.612	0.11794	742	0.52873	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1024.33	34	chr6	70163382	.	G	A	1024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.401;DP=748;ExcessHet=0;FS=0.697;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=0.968;SOR=0.622	GT:AD:DP:GQ:PL	0/1:75,45:120:99:1038,0,1952	18	0	1	0
chr6	73405806	73405806	G	T	exonic	DDX43	.	nonsynonymous SNV	DDX43:NM_018665:exon6:c.G778T:p.A260S	.	433	1087	2	0	0	2	0.000919118	.	.	.	3662196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.00427441564945	.	0.000199681	0.0001	0	0.0004	0	0	0.0001	0	0.0003	0.0001229	19	154602	rs529409917	6.704e-05	6.772e-05	6.126e-05	7.289e-05	0.0005	5.629e-05	5.172e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0005	5.576e-05	4.968e-05	0.0002	7.226e-05	7.219e-05	5.141e-05	9.405e-05	0.0004	3.97e-05	3.127e-05	7.301e-05	4.24e-05	0	0	6.545e-05	0	0	0	0	0.0001	0	0.0004	0.17	0.22833	T	0.772	0.04446	T	0.001	0.07471	B	0.009	0.14300	B	0.049095	0.23192	N	0.452597	1	0.81001	D	1.595	0.40691	L	2.41	0.15492	T	-1.05	0.27463	N	0.156	0.16168	-1.0163	0.24916	T	0.011	0.04321	T	10	0.03049305	0.01176	T	0.004274	0.10341	T	0.032	0.07718	0.347	0.34274	0.291694819147	0.28783	0.30813369900754634	0.30726	0.312351523902	0.33537	0.290030956268	0.08927	T	0.001926	0.01337	T	-0.5283	0.00393	T	-0.674677	0.07313	T	0.047419723123312	0.05040	T	0.625537	0.24174	T	0.055122156	0.10670	0.053388685	0.08982	0.055122156	0.10670	0.053388685	0.08982	-5.558	0.42407	T	.	.	0.099	0.16800	B	.	.	2.756633	0.36146	20.2	0.87583800281187263	0.17333	0.93312	0.57880	D	AEFI	0.371112	0.45724	N	-0.467182541104635	0.23162	1.241856	-0.305502329471039	0.27920	1.552803	1.44773910548827E-4	0.05573	0.553676	0.25195	0	0.547309	0.14657	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.18	3.38	0.37806	3.719000	0.54654	5.786000	0.49836	-0.130000	0.13190	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1623:0.0:0.5318:0.3058	4.717	0.12281	870	0.31527	RNA helicase, DEAD-box type, Q motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	779.33	33	chr6	73405806	.	G	T	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=689;ExcessHet=0;FS=1.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.472;SOR=0.91	GT:AD:DP:GQ:PL	0/1:21,29:50:99:793,0,451	18	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	8032.55	22	chr6	80007990	.	G	C	8032.55	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-2.203;DP=910;ExcessHet=8.9063;FS=213.455;InbreedingCoeff=-0.5526;MLEAC=12;MLEAF=0.429;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.928;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,18:44:99:0|1:80007990_G_C:544,0,1017:80007990	4	0	10	5
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT,TTK:NM_003318:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	7038.11	53	chr6	80007991	.	AGTTTTG	A	7038.11	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.306;DP=1098;ExcessHet=8.9063;FS=201.643;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.705;SOR=11.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,18:44:99:0|1:80007990_G_C:544,0,1017:80007990	16	0	3	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	394.98	21	chr6	80007992	.	G	*	394.98	.	AC=11;AF=0.458;AN=24;BaseQRankSum=0.548;DP=887;ExcessHet=22.5857;FS=247.209;InbreedingCoeff=-0.5703;MLEAC=15;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.65;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,18:44:99:0|1:80007990_G_C:544,0,1017:80007990	1	0	11	7
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	397.65	21	chr6	80007993	.	T	*	397.65	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-0.741;DP=803;ExcessHet=12.7857;FS=238.801;InbreedingCoeff=-0.3118;MLEAC=12;MLEAF=0.75;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.99;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,18:44:99:0|1:80007990_G_C:544,0,1017:80007990	1	0	7	11
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2459.5	21	chr6	80007995	.	T	*	2459.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.037;DP=798;ExcessHet=15.1594;FS=240.59;InbreedingCoeff=-0.3379;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=5.27;ReadPosRankSum=2.01;SOR=10.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,18:44:99:0|1:80007990_G_C:544,0,1017:80007990	6	0	4	9
chr6	80007996	80007996	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	2295.91	21	chr6	80007996	.	T	*	2295.91	.	AC=2;AF=0.091;AN=22;BaseQRankSum=-0.62;DP=836;ExcessHet=2.6804;FS=364.496;InbreedingCoeff=-0.2035;MLEAC=3;MLEAF=0.136;MQ=60;MQRankSum=0;QD=7.27;ReadPosRankSum=0.99;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,18:44:99:0|1:80007990_G_C:544,0,1017:80007990	9	0	2	8
chr6	80007997	80007997	-	CCCCCA	exonic	TTK	.	nonframeshift insertion	TTK:NM_001166691:exon3:c.328_329insCCCCCA:p.A110_R111insPT,TTK:NM_003318:exon3:c.328_329insCCCCCA:p.A110_R111insPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2153.55	42	chr6	80007997	.	G	GCCCCCA	2153.55	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.71;DP=869;ExcessHet=0.7564;FS=172.724;InbreedingCoeff=-0.1206;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=1.07;SOR=8.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,18:44:99:0|1:80007990_G_C:544,0,1017:80007990	15	0	4	0
chr6	82957319	82957319	G	T	exonic	UBE3D	.	nonsynonymous SNV	UBE3D:NM_001350603:exon8:c.C581A:p.S194Y,UBE3D:NM_001304437:exon9:c.C1046A:p.S349Y,UBE3D:NM_198920:exon9:c.C1142A:p.S381Y,UBE3D:NM_001350602:exon10:c.C1046A:p.S349Y,UBE3D:NM_001350604:exon10:c.C581A:p.S194Y	.	435	1068	18	1	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	.	0.0062	0.00179712	0.0065	0.0013	0.0038	0.0001	0.0189	0.0089	0.0055	0.0006	0.0063906	988	154602	rs34566948	0.0075	0.0075	0.0077	0.0074	0.0114	0.0074	0.0074	0.0092	0.0084	0.0012	0.0045	0.0085	0	0.0170	0.0114	0.0081	0.0074	0.0010	0.0063	0.0063	0.0061	0.0066	0.0084	0.0060	0.0059	0.0078	0.0076	0.0012	0.0011	0.0046	0.0081	0	0.0196	0.0274	0.0084	0.0080	0.0015	0.009	0.57480	D	0.002	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.106577	1	0.81001	D	2.51	0.73131	M	1.45	0.32482	T	-4.0	0.74051	D	0.632	0.64563	-0.9164	0.46037	T	0.149	0.47540	T	10	0.017632455	0.00378	T	.	.	.	0.315	0.63694	.	.	0.326345978581	0.32251	0.6545564510920472	0.65391	0.894031276661	0.70350	0.547096848488	0.45448	T	0.036254	0.24035	T	-0.25914	0.13000	T	-0.135618	0.60496	T	0.016612235872143	0.00421	T	0.826617	0.49005	T	0.47465855	0.65576	0.5235199	0.72471	0.47465855	0.65576	0.5235199	0.72472	-8.699	0.65739	D	.	.	0.164	0.36214	B	.	.	4.388055	0.67691	25.1	0.99498180530173386	0.67859	0.94425	0.61124	D	AEFDBI	0.617271	0.60352	D	0.631594764806553	0.75182	6.261084	0.575537385164814	0.73191	5.930243	0.999999999582779	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.57	5.57	0.84021	5.791000	0.68692	9.895000	0.82304	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.192000	0.21661	0.0:0.0:1.0:0.0	16.467	0.83923	562	0.71143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.010101	0.009511	0.008772	0.000000	0.000000	0.036585	0.000000	0.02632	1022.33	33	chr6	82957319	.	G	T	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.674;DP=987;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.79;SOR=0.565	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1036,0,1304	18	0	1	0
chr6	83352101	83352101	G	C	exonic	ME1	.	nonsynonymous SNV	ME1:NM_002395:exon4:c.C401G:p.A134G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0174298839709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0039	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0007	4.803e-05	0.0001	0.0001	4.058e-05	0.0008	0.0009	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.421	0.14075	T	0.121	0.26708	B	0.092	0.30031	B	0.020936	0.26936	N	0.457490	0.999111	0.81001	D	1.465	0.36909	L	0.93	0.44065	T	-1.58	0.38151	N	0.549	0.57518	-1.0932	0.05020	T	0.052	0.22114	T	10	0.39324778	0.55043	T	0.01743	0.39125	T	0.071	0.20720	0.433	0.48336	0.590228304998	0.58699	0.7456373293965067	0.74509	0.0422964412412	0.04561	0.445081591606	0.31272	T	0.185202	0.53810	T	-0.145968	0.28945	T	-0.44745	0.27978	T	0.611459136009216	0.36859	D	0.89921	0.64678	D	0.2825711	0.51294	0.16329293	0.37888	0.2825711	0.51294	0.16329293	0.37887	-6.758	0.52246	T	.	.	0.112	0.22061	B	.	.	2.730338	0.35734	19.98	0.96542643590327337	0.30193	0.96966	0.71921	D	AEFI	0.728759	0.67668	D	-0.180866953640128	0.33931	1.930802	-0.064166871410528	0.36883	2.152253	0.974719722080506	0.29567	0.706298	0.61202	0	0.633656	0.55848	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.76	4.88	0.63131	3.794000	0.55196	7.350000	0.58291	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.194000	0.21720	0.0:0.1371:0.8629:0.0	15.707	0.77352	746	0.52331	Malic enzyme, N-terminal domain|Malic enzyme, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1176	54.35	16	chr6	83352101	.	G	C	54.35	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-1.283;DP=657;ExcessHet=0.8031;FS=445.697;InbreedingCoeff=-0.1432;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=0.51;SOR=9.149	GT:AD:DP:GQ:PL	0/1:19,9:28:12:12,0,216	13	0	4	2
chr6	89264438	89264438	G	T	exonic	GABRR2	.	nonsynonymous SNV	GABRR2:NM_002043:exon8:c.C1060A:p.R354S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0847092647642	.	.	.	.	.	.	.	.	.	.	.	.	.	rs775816767	4.105e-06	4.788e-06	2.723e-06	5.501e-06	0.0002	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	1.159e-05	6.577e-06	6.568e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.087	0.40747	T	.	.	.	.	.	.	0.001838	0.37892	N	0.278142	0.999635	0.47961	D	2.84	0.82582	M	-1.79	0.83815	D	.	.	.	0.531	0.55972	-0.8418	0.52527	T	0.170	0.51133	T	8	0.34374163	0.51380	T	0.084709	0.74382	D	0.147	0.38986	.	.	0.843524094599	0.84203	0.6822162623633249	0.68160	0.26906606016	0.29422	0.306420713663	0.11366	T	0.226384	0.59139	T	-0.0742624	0.40642	T	-0.175321	0.56956	T	0.608260691165924	0.36730	D	0.993301	0.97813	D	0.10011685	0.23636	0.12320467	0.29711	0.10011685	0.23636	0.12320467	0.29711	-13.089	0.89726	D	.	.	0.577	0.67944	P	.	.	2.125653	0.27058	17.33	0.9898379861240556	0.49800	0.30554	0.24112	N	AEFBI	0.309799	0.41600	N	-0.524405461726412	0.21293	1.128949	-0.552573707070059	0.20738	1.118655	5.7022630595245E-4	0.07335	0.516011	0.20929	0	0.588066	0.40923	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.93	-0.548	0.11241	-0.124000	0.10571	-0.022000	0.12912	-0.244000	0.07312	0.005000	0.17040	0.000000	0.08366	0.669000	0.33223	0.2467:0.0:0.3493:0.4039	4.946	0.13341	902	0.24074	Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3503.33	40	chr6	89264438	.	G	T	3503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=956;ExcessHet=0;FS=2.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=0;QD=13.63;ReadPosRankSum=1.22;SOR=0.559	GT:AD:DP:GQ:PL	0/1:124,133:257:99:3517,0,2910	18	0	1	0
chr6	89868470	89868470	A	G	exonic	CASP8AP2	.	nonsynonymous SNV	CASP8AP2:NM_001137667:exon8:c.A5180G:p.N1727S,CASP8AP2:NM_001137668:exon8:c.A5180G:p.N1727S,CASP8AP2:NM_012115:exon8:c.A5180G:p.N1727S	.	.	.	.	.	.	.	.	.	.	.	3644319	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	2.495e-05	0.0001	0	0	0	3.011e-05	0	0	1.94e-05	3	154602	rs752010391	1.728e-05	1.436e-05	2.284e-05	1.162e-05	7.605e-05	1.11e-05	9.42e-06	1.258e-05	8.03e-06	7.605e-05	0	0	0	0	0	1.677e-05	4.545e-05	1.202e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	2.413e-05	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07937622	0.12762	T	.	.	.	.	.	.	.	0.450248222533	0.44647	0.07625601542884668	0.07561	.	.	0.255521208048	0.04371	T	0.007892	0.07266	T	-0.425254	0.01585	T	-0.666478	0.07835	T	.	.	.	0.563744	0.19863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01555	B	.	.	-1.727322	0.00184	0.003	0.52415974026087286	0.04744	0.07798	0.13794	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999847689807216	0.43971	0.322412	0.05557	0	0.31918	0.05746	0	0.320204	0.05785	0	0.322829	0.05601	0	0.299624	0.34757	5.62	-10.8	0.00171	-0.644000	0.05512	-1.050000	0.06486	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.242000	0.23054	0.2934:0.1131:0.5935:0.0	12.395	0.54710	573	0.70213	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	2165.33	40	chr6	89868470	.	A	G	2165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.948;DP=860;ExcessHet=0;FS=2.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.659;SOR=0.808	GT:AD:DP:GQ:PL	0/1:108,86:194:99:2179,0,2822	18	0	1	0
chr6	99369613	99369613	T	-	exonic	COQ3	.	frameshift deletion	COQ3:NM_017421:exon7:c.1097delA:p.K366Sfs*2	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	9.653e-05	0.0010	0	0.0003	0.0006	0.0011	0.0011	0.0001921	5	26028	rs747897261	0.0006	0.0006	0.0005	0.0006	0.0073	0.0005	0.0005	0.0055	0.0049	0.0004	0.0012	0.0008	0	0.0001	0.0073	0.0005	0.0010	0.0012	0.0004	0.0004	0.0003	0.0005	0.0014	0.0003	0.0003	0.0009	0.0008	0.0001	0	0.0014	0.0003	0	0.0002	0	0.0003	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008056	0.000000	0.009511	0.017544	0.000000	0.017241	0.009146	0.000000	0.02632	519.29	40	chr6	99369612	.	CT	C	519.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.874;DP=586;ExcessHet=0;FS=4.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=-0.022;SOR=0.165	GT:AD:DP:GQ:PL	0/1:11,18:29:99:533,0,283	18	0	1	0
chr6	116920414	116920414	T	G	exonic	RFX6	.	nonsynonymous SNV	RFX6:NM_173560:exon12:c.T1287G:p.I429M	Mitchell-Riley syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2378928	Inborn_genetic_diseases|RFX6-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00485350290906	.	.	8.242e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs770671840	1.163e-05	1.163e-05	1.226e-05	1.1e-05	0.0017	7.09e-06	5.79e-06	0.0009	0.0007	0	6.71e-05	0	0	0	0.0017	1.799e-06	3.312e-05	0	6.572e-06	6.568e-06	0	1.345e-05	6.557e-05	0	0	.	.	0	0	6.557e-05	0	0	0	0	0	0	0	0.551	0.06564	T	0.551	0.09393	T	0.036	0.20732	B	0.009	0.14300	B	0.002393	0.36650	N	0.270593	1	0.08975	N	0.205	0.09354	N	0.48	0.55945	T	0.4	0.03463	N	0.3	0.33904	-0.9791	0.35208	T	0.015	0.05946	T	10	0.05299753	0.05421	T	0.004854	0.12161	T	0.035	0.08770	0.277	0.23004	0.226586394389	0.22295	0.2517471793409805	0.25088	0.505640415308	0.48796	0.442919433117	0.30976	T	0.111761	0.42750	T	-0.325218	0.06479	T	-0.622064	0.11024	T	0.0236221663585399	0.01098	T	0.407759	0.10493	T	0.05527171	0.10719	0.04520139	0.06028	0.05527171	0.10719	0.04520139	0.06027	-5.563	0.42453	T	0.1302327220169475	0.13680	0.083	0.09336	B	.	.	0.962230	0.13387	9.894	0.59622113856541281	0.06267	0.27896	0.23404	N	AEFI	0.270042	0.38619	N	-0.890075691103105	0.11077	0.5326778	-0.746400081998471	0.15810	0.8333811	1.2160110329486E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.74	0.58	0.16585	-0.458000	0.06813	0.235000	0.16237	0.665000	0.62972	0.263000	0.24978	0.992000	0.31684	0.987000	0.62547	0.1183:0.1932:0.1164:0.5721	2.250	0.03794	381	0.83684	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1544.33	41	chr6	116920414	.	T	G	1544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.09;DP=831;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.399;SOR=0.653	GT:AD:DP:GQ:PL	0/1:49,60:109:99:1558,0,1240	18	0	1	0
chr6	127447421	127447421	G	A	exonic	KIAA0408	.	nonsynonymous SNV	KIAA0408:NM_014702:exon5:c.C898T:p.P300S	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	7.7e-05	0.00159744	0.0018	0.0003	0.0002	0.0046	0.0148	0.0010	0.0044	0.0007	0.0015265	236	154602	rs76263788	0.0011	0.0011	0.0011	0.0011	0.0141	0.0011	0.0011	0.0131	0.0128	0.0001	4.479e-05	0	0.0141	0.0126	0.0002	0.0003	0.0009	0.0006	0.0015	0.0015	0.0008	0.0022	0.0048	0.0014	0.0013	0.0034	0.0029	0.0002	0	0	0	0.0048	0.0143	0	0.0006	0.0009	0.0012	0.848	0.02753	T	0.476	0.12037	T	0.014	0.16867	B	0.004	0.10090	B	0.402435	0.13106	U	0.609228	1	0.08975	N	0.69	0.16971	N	1.63	0.28002	T	0.73	0.02068	N	0.058	0.02964	-0.9289	0.44299	T	0.009	0.03011	T	10	0.0039969087	0.00077	T	.	.	.	0.008	0.00669	.	.	0.213573922156	0.20996	0.09176652433935321	0.09109	0.0540331048797	0.05968	0.209395766258	0.00786	T	0.00484	0.04259	T	-0.653967	0.00068	T	-0.711339	0.05226	T	0.00225605440968894	0.00023	T	0.533947	0.17813	T	0.017002676	0.00238	0.032399345	0.01971	0.017002676	0.00238	0.032399345	0.01970	-2.657	0.06949	T	.	.	0.075	0.05623	B	.	.	0.493363	0.08624	5.395	0.74906737927935541	0.10872	0.04787	0.10502	N	AEFBI	.	.	.	-1.36910614184235	0.02932	0.1302066	-1.3361146842806	0.03972	0.1864051	0.00473841654186322	0.10692	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	5.32	-0.509	0.11379	-0.081000	0.11285	-0.836000	0.07236	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.0:0.3997:0.2741:0.3262	5.461	0.15915	619	0.66147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002591	0.000000	0.000000	0.000000	0.050000	0.000000	0.009146	0.003788	0.02632	1645.33	37	chr6	127447421	.	G	A	1645.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.802;DP=879;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.474;SOR=0.639	GT:AD:DP:GQ:PL	0/1:56,62:118:99:1659,0,1579	18	0	1	0
chr6	129267114	129267114	G	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon16:c.G2217T:p.W739C,LAMA2:NM_001079823:exon16:c.G2217T:p.W739C	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	428505	not_specified|Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23|LAMA2-related_muscular_dystrophy|Merosin_deficient_congenital_muscular_dystrophy|not_provided|Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency	MedGen:CN169374|MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138,Orphanet:565837|MONDO:MONDO:0100228,MedGen:C5679788|MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258|MedGen:C3661900|MedGen:C1842898	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.120	.	.	0.00159744	0.0009	0	0	0.0109	0	0.0002	0	0.0005	0.000815	126	154602	rs192317605	0.0004	0.0004	0.0003	0.0004	0.0096	0.0003	0.0003	0.0088	0.0085	0	0	0.0017	0.0096	0	0	7.226e-06	0.0008	0.0003	0.0005	0.0005	0.0004	0.0006	0.0122	0.0004	0.0004	0.0098	0.0089	0	0	0	0.0026	0.0122	0	0	1.471e-05	0.0005	0.0017	0.02	0.49613	D	.	.	.	0.997	0.70673	D	0.87	0.61806	P	0.008141	0.30992	N	0.312733	0.999997	0.58761	D	1.61	0.41143	L	1.43	0.32958	T	-1.13	0.29114	N	0.77	0.77039	-1.1258	0.01994	T	0.078	0.31133	T	10	0.011787742	0.00256	T	.	.	.	0.120	0.33359	0.649	0.78648	0.618542639961	0.61546	0.760060436112687	0.75954	0.556711159787	0.52315	0.591397166252	0.51690	T	0.011468	0.27782	T	-0.286644	0.09976	T	-0.171547	0.57301	T	0.0429463590760804	0.04227	T	0.929307	0.73951	D	0.17743863	0.38710	0.12505859	0.30138	0.17743863	0.38710	0.12505859	0.30137	-10.011	0.73978	D	0.13647330940762226	0.14928	0.846	0.79568	P	.;.;.	.;.;.	5.384097	0.90224	31	0.99143971640019068	0.53627	0.85959	0.45155	D	AEFDBHCI	0.512169	0.54049	D	0.552249401808121	0.70218	5.469501	0.578988368065287	0.73434	5.970065	0.908614953770103	0.26290	0.487112	0.14033	0	0.573888	0.26702	0	0.550215	0.18615	0	0.530356	0.10902	0	.	.	5.66	5.66	0.87293	2.341000	0.43640	11.918000	0.99752	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0778:0.0:0.9222:0.0	12.259	0.53959	828	0.39726	Laminin EGF domain;Laminin EGF domain;Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1086.33	34	chr6	129267114	.	G	T	1086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.34;DP=725;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-2.181;SOR=0.583	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1100,0,1283	18	0	1	0
chr6	131950887	131950887	G	C	exonic	CCN2	.	nonsynonymous SNV	CCN2:NM_001901:exon2:c.C172G:p.R58G	.	1	1484	35	2	0	39	0.0129697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	.	.	0.00179712	0.0058	0	0	0	.	0.0114	0	0.0043	0.0008279	128	154602	rs111779788	0.0029	0.0028	0.0029	0.0030	0.0098	0.0028	0.0028	0.0074	0.0066	0.0004	0.0025	0.0079	0	0.0042	0.0098	0.0027	0.0042	0.0043	0.0023	0.0023	0.0022	0.0025	0.0037	0.0021	0.0020	0.0024	0.0023	0.0005	0	0.0027	0.0063	0.0004	0.0050	0.0034	0.0028	0.0024	0.0037	0.033	0.44358	D	0.058	0.46182	T	0.948	0.53620	P	0.804	0.58350	P	0.000055	0.53742	D	0.113091	0.612338	0.30850	N	2.945	0.84822	M	0.3	0.58755	T	-3.43	0.67359	D	0.543	0.57006	-0.7450	0.58195	T	0.196	0.55056	T	10	0.013961047	0.00294	T	.	.	.	0.323	0.64522	.	.	0.796444336488	0.79454	0.4768576801871693	0.47605	1.47171924055	0.86544	0.900508642197	0.96497	D	0.337636	0.70700	T	-0.260269	0.12869	T	-0.146779	0.59528	T	0.0537744793132564	0.06151	T	0.946505	0.79528	D	0.7260425	0.79500	0.6255168	0.78171	0.7260425	0.79502	0.6255168	0.78172	-11.85	0.84113	D	.	.	0.228	0.45990	B	.	.	4.691501	0.75173	26.3	0.99747779445746043	0.84002	0.57040	0.30273	D	ALL	0.599166	0.59229	D	0.170819427394724	0.49802	3.176582	0.0928453673664277	0.44187	2.705418	0.999999897586289	0.74766	0.542737	0.22433	0	0.59043	0.45803	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	5.1	3.05	0.34272	0.429000	0.21131	6.921000	0.56929	0.586000	0.30580	0.215000	0.24480	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.6052:0.3948	13.400	0.60323	435	0.80441	Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007437	0.000000	0.003030	0.015924	0.000000	0.000000	0.019380	0.004310	0.02632	412.33	39	chr6	131950887	.	G	C	412.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.619;DP=756;ExcessHet=0;FS=4.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=0.277;SOR=0.255	GT:AD:DP:GQ:PL	0/1:34,22:56:99:426,0,941	18	0	1	0
chr6	138473353	138473353	G	A	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_001144060:exon3:c.C292T:p.P98S,NHSL1:NM_020464:exon3:c.C436T:p.P146S	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00383156465049	0.0037	0.00119808	0.0020	0.0009	0	0	0	0.0035	0.0042	0.0013	0.0006921	107	154602	rs201780864	0.0031	0.0030	0.0031	0.0030	0.0093	0.0030	0.0030	0.0073	0.0066	0.0004	0.0025	0.0024	0	0.0007	0.0093	0.0035	0.0041	0.0012	0.0023	0.0023	0.0024	0.0022	0.0034	0.0021	0.0020	0.0030	0.0029	0.0010	0.0099	0.0027	0.0023	0	0.0005	0.0136	0.0034	0.0033	0.0012	0.215	0.21801	T	0.548	0.10785	T	0.001	0.07471	B	0.002	0.08700	B	0.012534	0.29142	N	0.390782	0.979379	0.25186	N	1.4	0.35362	L	1.23	0.36872	T	-2.62	0.63207	D	0.06	0.13055	-1.0072	0.27789	T	0.016	0.06664	T	10	0.0033589303	0.00058	T	0.003832	0.08961	T	0.054	0.15330	.	.	0.0401082797425	0.02173	0.14422849197835866	0.14345	.	.	0.292442917824	0.09278	T	0.011375	0.29960	T	-0.541817	0.00327	T	-0.55411	0.16933	T	0.0191748720763091	0.00624	T	0.662834	0.28519	T	0.028806757	0.02275	0.052949004	0.08825	0.028806757	0.02275	0.052949004	0.08825	-1.247	0.01829	T	.	.	0.072	0.04436	B	.;.;.;.	.;.;.;.	0.726152	0.10952	7.618	0.67345597212008468	0.08327	0.61867	0.31610	D	AEFBI	0.067178	0.13194	N	-0.710262116777375	0.15732	0.7954531	-0.593022865051781	0.19673	1.05663	0.767519204967811	0.23613	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.13	1.12	0.19700	0.810000	0.26841	1.735000	0.28356	-0.718000	0.03832	1.000000	0.71638	0.983000	0.30585	0.033000	0.13494	0.2696:0.1535:0.4184:0.1585	1.042	0.01463	883	0.28872	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.009174	0.015957	0.006173	0.000000	0.000000	0.045455	0.027778	0.000000	0.02632	1665.33	36	chr6	138473353	.	G	A	1665.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=793;ExcessHet=0;FS=4.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.004;SOR=1.066	GT:AD:DP:GQ:PL	0/1:84,67:151:99:1679,0,2009	18	0	1	0
chr6	144523181	144523181	C	T	exonic	UTRN	.	nonsynonymous SNV	UTRN:NM_007124:exon40:c.C5899T:p.R1967W	.	.	.	.	.	.	.	.	.	.	.	699355	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.344	.	0.0042	0.0061901	0.0019	0.0159	0.0016	0.0004	0	0.0006	0	0.0001	0.0018111	280	154602	rs116699477	0.0007	0.0008	0.0008	0.0007	0.0157	0.0007	0.0007	0.0146	0.0141	0.0157	0.0015	0.0019	0.0002	0	0.0058	0.0002	0.0022	8.747e-05	0.0039	0.0039	0.0040	0.0038	0.0117	0.0036	0.0035	0.0109	0.0105	0.0117	0	0.0041	0.0009	0	9.517e-05	0.0034	0.0004	0.0043	0.0002	0.102	0.30235	T	.	.	.	0.999	0.77913	D	0.847	0.60522	P	0.001778	0.38052	N	0.119448	0.731241	0.29827	N	2.81	0.81869	M	0.74	0.50459	T	-4.66	0.79482	D	0.718	0.72031	-0.6574	0.62390	T	0.189	0.54049	T	10	0.0100955665	0.00226	T	.	.	.	0.344	0.66582	.	.	0.660119374745	0.65727	0.723227243028159	0.72266	0.403431276575	0.41280	0.2094848454	0.00789	T	0.882503	0.97548	D	-0.383934	0.02942	T	-0.311298	0.43518	T	0.0440621895734125	0.04432	T	0.950305	0.80969	D	0.85572344	0.87761	0.6843385	0.81442	0.85572344	0.87763	0.6843385	0.81443	-7.967	0.60845	D	.	.	0.142	0.31228	B	.	.	3.985529	0.58615	24.0	0.99882398185698418	0.95813	0.93129	0.57402	D	AEFBI	0.497445	0.53196	N	0.468083015213101	0.65238	4.797219	0.408363308225867	0.62084	4.418161	0.246335925743857	0.18630	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.8	4.01	0.45821	1.944000	0.39890	1.684000	0.28029	0.549000	0.26987	0.991000	0.37257	0.894000	0.27871	0.626000	0.32052	0.0:0.8671:0.0:0.1329	13.040	0.58301	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	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	0.010070	0.010101	0.021739	0.002924	0.000000	0.000000	0.009146	0.000000	0.02632	783.33	36	chr6	144523181	.	C	T	783.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=676;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.67;ReadPosRankSum=1.49;SOR=0.819	GT:AD:DP:GQ:PL	0/1:21,26:47:99:797,0,472	18	0	1	0
chr6	144789225	144789225	C	A	exonic	UTRN	.	nonsynonymous SNV	UTRN:NM_001375323:exon12:c.C1531A:p.L511M,UTRN:NM_007124:exon61:c.C8866A:p.L2956M	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.010448754354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.42487	T	0.09	0.40267	T	0.786	0.44460	P	0.688	0.53700	P	0.000885	0.41231	D	0.000000	0.56591	0.32848	D	0.55	0.14455	N	-0.31	0.68030	T	-0.14	0.09627	N	0.408	0.46649	-0.6659	0.62013	T	0.172	0.51357	T	10	0.33840248	0.50945	T	0.010449	0.27001	T	0.227	0.52620	0.574	0.69826	0.541285430251	0.53781	0.27061202305502524	0.26974	0.554264953898	0.52173	0.714693367481	0.69273	T	0.181103	0.53266	T	-0.0454324	0.45139	T	-0.303037	0.44404	T	0.752389550209045	0.43418	D	0.877312	0.59062	D	0.15193494	0.34515	0.087911874	0.20466	0.15193494	0.34514	0.087911874	0.20465	-5.214	0.39084	T	.	.	0.102	0.17953	B	.;.	.;.	2.722984	0.35625	19.95	0.98983979506833752	0.49800	0.84725	0.43812	D	AEFBI	0.180511	0.30782	N	0.229327766573103	0.52624	3.435497	0.309574967413444	0.56101	3.773133	0.400014813711356	0.20122	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.96	5.1	0.68917	0.757000	0.26098	1.722000	0.28267	0.599000	0.40250	0.979000	0.35152	1.000000	0.68203	1.000000	0.97212	0.0:0.9321:0.0:0.0679	15.033	0.71382	819	0.41190	EF-hand domain, type 1;EF-hand domain, type 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	789.33	34	chr6	144789225	.	C	A	789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.54;DP=699;ExcessHet=0;FS=0.864;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-2.334;SOR=0.559	GT:AD:DP:GQ:PL	0/1:39,38:77:99:803,0,919	18	0	1	0
chr6	146733907	146733907	G	A	exonic	ADGB	.	nonsynonymous SNV	ADGB:NM_024694:exon22:c.G2671A:p.V891I	.	426	1057	36	3	0	42	0.0194805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0042	0.00559105	0.0110	0.0009	0.0074	0	0.0006	0.0072	0.0205	0.0209	0.0023415	362	154602	rs61742778	0.0044	0.0043	0.0039	0.0050	0.0215	0.0044	0.0043	0.0206	0.0203	0.0004	0.0022	0.0102	0.0001	0.0019	0.0116	0.0034	0.0049	0.0215	0.0030	0.0030	0.0027	0.0033	0.0199	0.0028	0.0027	0.0167	0.0155	0.0006	0.0066	0.0014	0.0092	0	0.0008	0.0068	0.0038	0.0043	0.0199	0.599	0.05652	T	0.456	0.12740	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.365	0.12025	N	1.49	0.31470	T	-0.22	0.10480	N	0.046	0.01825	-1.0320	0.19809	T	0.019	0.07753	T	9	0.002518624	0.00038	T	.	.	.	0.027	0.05988	.	.	0.0297737177859	0.01360	0.039220856352879786	0.03868	.	.	0.313933312893	0.12501	T	0.006145	0.05579	T	-0.711101	0.00031	T	-0.777968	0.02516	T	0.00170575897135944	0.00017	T	0.347365	0.07649	T	0.024575064	0.01303	0.039445285	0.04040	0.024575064	0.01303	0.039445285	0.04039	-2.225	0.04163	T	.	.	0.073	0.04764	B	.	.	-0.893189	0.00937	0.036	0.48854782117413253	0.04111	0.01048	0.03908	N	AEFI	0.031432	0.03361	N	-1.77433703604253	0.00611	0.02633791	-1.89504143448668	0.00501	0.0221883	0.982981029885129	0.30486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	-9.47	0.00501	-1.417000	0.02571	-2.776000	0.03373	-1.368000	0.01174	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.7165:0.1052:0.1783:0.0	14.096	0.64548	683	0.59664	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015152	0.005319	0.053571	0.004464	0.000000	0.000000	0.023256	0.026316	0.02632	786.33	33	chr6	146733907	.	G	A	786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.643;DP=673;ExcessHet=0;FS=3.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-1.166;SOR=1.236	GT:AD:DP:GQ:PL	0/1:23,33:56:99:800,0,538	18	0	1	0
chr6	151807928	151807928	C	T	exonic	ESR1	.	nonsynonymous SNV	ESR1:NM_000125:exon1:c.C16T:p.H6Y,ESR1:NM_001385572:exon1:c.C16T:p.H6Y,ESR1:NM_001122740:exon2:c.C16T:p.H6Y,ESR1:NM_001122741:exon2:c.C16T:p.H6Y,ESR1:NM_001291230:exon2:c.C16T:p.H6Y,ESR1:NM_001291241:exon2:c.C16T:p.H6Y,ESR1:NM_001385569:exon2:c.C16T:p.H6Y,ESR1:NM_001385571:exon2:c.C16T:p.H6Y,ESR1:NM_001122742:exon3:c.C16T:p.H6Y,ESR1:NM_001385568:exon3:c.C16T:p.H6Y,ESR1:NM_001385570:exon3:c.C16T:p.H6Y	Estrogen resistance, Autosomal recessive	411	1105	6	0	0	6	0.00270758	.	.	.	721809	ESR1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.492	0.42712642562	0.0036	0.000599042	0.0036	0.0008	0.0004	0	0.0028	0.0059	0.0012	0.0010	0.0034217	529	154602	rs139960913	0.0046	0.0047	0.0048	0.0045	0.0053	0.0046	0.0045	0.0052	0.0052	0.0006	0.0009	0.0039	0	0.0044	0.0016	0.0053	0.0054	0.0013	0.0031	0.0031	0.0034	0.0027	0.0052	0.0028	0.0028	0.0047	0.0046	0.0007	0	0.0016	0.0035	0	0.0035	0	0.0052	0.0028	0.0017	0.001	0.91255	D	0.0	0.92824	D	0.993	0.70673	D	0.742	0.76916	P	0.000147	0.49130	D	0.211827	0.999711	0.48481	D	0.625	0.15840	N	0.33	0.93640	T	-3.05	0.62976	D	0.555	0.58202	0.845	0.94962	D	0.866	0.95556	D	10	0.012596518	0.00270	T	0.427126	0.93909	D	0.492	0.77847	.	.	0.798204140292	0.79632	0.7424126764245096	0.74187	1.33405175455	0.83701	0.829206347466	0.86441	D	0.401821	0.76932	T	-0.125012	0.32307	T	0.0487432	0.73502	D	0.0466939544041783	0.04909	T	0.974702	0.91638	D	0.15614194	0.35251	0.2979521	0.55829	0.20713423	0.42909	0.25284997	0.50921	-4.072	0.24876	T	.	.	0.344	0.59572	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.016602	0.59292	24.1	0.99728449028614874	0.82549	0.82961	0.42122	D	AEFDBHCI	0.612775	0.60072	D	0.506852934142356	0.67492	5.089138	0.446535983293318	0.64496	4.705958	0.999999994463334	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.19	5.19	0.71428	3.940000	0.56310	7.495000	0.59416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.711000	0.34484	0.0:1.0:0.0:0.0	18.714	0.91633	740	0.53092	.;.;.;.;.;.;Nuclear hormone receptor, ligand-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.003788	0.02632	1594.33	33	chr6	151807928	.	C	T	1594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.519;DP=742;ExcessHet=0;FS=0.731;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.421;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,44:110:99:0|1:151807928_C_T:1608,0,2577:151807928	18	0	1	0
chr6	158585341	158585341	A	C	exonic	TMEM181	.	nonsynonymous SNV	TMEM181:NM_001376856:exon2:c.A54C:p.K18N,TMEM181:NM_001376855:exon4:c.A201C:p.K67N,TMEM181:NM_001376817:exon5:c.A420C:p.K140N,TMEM181:NM_001376850:exon5:c.A297C:p.K99N,TMEM181:NM_001376852:exon5:c.A297C:p.K99N,TMEM181:NM_001376854:exon5:c.A297C:p.K99N,TMEM181:NM_020823:exon5:c.A420C:p.K140N	.	431	1069	21	1	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0072	0.00439297	0.0060	0.0016	0.0040	0.0002	0.0023	0.0089	0.0090	0.0028	0.0061772	955	154602	rs41266341	0.0078	0.0078	0.0079	0.0077	0.0169	0.0077	0.0076	0.0142	0.0132	0.0010	0.0049	0.0186	2.525e-05	0.0013	0.0169	0.0087	0.0083	0.0033	0.0062	0.0062	0.0064	0.0059	0.0091	0.0058	0.0057	0.0084	0.0082	0.0015	0.0011	0.0091	0.0210	0	0.0006	0.0272	0.0090	0.0104	0.0025	0.136	0.26085	T	0.237	0.24621	T	0.788	0.44546	P	0.201	0.36881	B	0.000000	0.84330	D	0.092195	0.708289	0.33492	D	2.2	0.62015	M	.	.	.	-1.31	0.32791	N	0.684	0.69037	-1.0861	0.06209	T	0.042	0.18118	T	9	0.00878191	0.00199	T	.	.	.	0.124	0.34239	0.407	0.44066	0.0762999501168	0.06990	0.445810111811711	0.44499	0.207708327126	0.23235	0.658450484276	0.61187	T	0.013	0.11252	T	-0.504487	0.00539	T	-0.488042	0.23596	T	0.0240138043545516	0.01147	T	0.808019	0.45805	T	0.08445353	0.19549	0.10617646	0.25537	0.08445353	0.19549	0.10617646	0.25536	-8.518	0.64548	D	.	.	0.513	0.65158	A	.	.	1.649449	0.21042	15.03	0.99334652967786197	0.59934	0.86213	0.45451	D	AEFDBI	0.104897	0.20976	N	-0.348541092712033	0.27326	1.498331	-0.371911551102668	0.25838	1.423409	0.478385295646404	0.20765	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	-1.12	0.09306	0.817000	0.26938	0.764000	0.21339	0.691000	0.84096	1.000000	0.71638	0.984000	0.30665	0.993000	0.69303	0.5379:0.0:0.4621:0.0	9.748	0.39624	644	0.63734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015641	0.015152	0.021739	0.011696	0.000000	0.025862	0.006173	0.007576	0.07895	4725.77	34	chr6	158585341	.	A	C	4725.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.874;DP=810;ExcessHet=0;FS=7.333;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.73;ReadPosRankSum=-0.139;SOR=1.158	GT:AD:DP:GQ:PL	0/1:64,65:129:99:1627,0,1605	17	1	1	0
chr6	159806021	159806021	A	C	exonic	PNLDC1	.	nonsynonymous SNV	PNLDC1:NM_001271862:exon7:c.A500C:p.E167A,PNLDC1:NM_173516:exon7:c.A467C:p.E156A	.	432	1058	29	3	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0050	0.00519169	0.0064	0.0012	0.0046	0	0.0054	0.0055	0.0110	0.0179	0.0061254	947	154602	rs146392472	0.0061	0.0061	0.0057	0.0065	0.0181	0.0060	0.0059	0.0173	0.0170	0.0009	0.0042	0.0051	2.519e-05	0.0054	0.0166	0.0056	0.0064	0.0181	0.0045	0.0045	0.0043	0.0047	0.0174	0.0043	0.0041	0.0144	0.0133	0.0011	0	0.0044	0.0037	0.0004	0.0029	0.0034	0.0063	0.0071	0.0174	0.025	0.47320	D	0.016	0.61642	D	0.243	0.33195	B	0.183	0.35961	B	0.052386	0.22898	N	0.442842	0.999982	0.18198	N	2.595	0.75868	M	.	.	.	-2.22	0.49846	N	0.416	0.49146	-1.0514	0.14009	T	0.043	0.18410	T	9	0.007142067	0.00162	T	.	.	.	0.038	0.09825	.	.	0.276482976112	0.27267	0.4509988585740375	0.45017	0.36332536221	0.37963	0.265277177095	0.05535	T	0.208192	0.56805	T	-0.412569	0.01912	T	-0.351778	0.39000	T	0.0187307143406989	0.00586	T	0.854015	0.53996	D	0.14637151	0.33511	0.14839086	0.35078	0.14637151	0.33511	0.14839086	0.35077	-6.699	0.51803	T	.	.	0.133	0.28778	B	.;.	.;.	2.142681	0.27288	17.41	0.98660465239849338	0.44317	0.81536	0.40920	D	AEFDBHCI	0.166051	0.29260	N	-0.339153688440127	0.27672	1.52017	-0.299622933287084	0.28111	1.564821	0.999996483160134	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.76	3.4	0.38031	2.895000	0.48347	7.857000	0.71250	0.751000	0.87719	0.934000	0.32416	1.000000	0.68203	0.380000	0.26335	0.8948:0.0:0.1052:0.0	9.562	0.38538	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.000000	0.014946	0.014620	0.000000	0.043103	0.015244	0.007576	0.05263	4469.83	45	chr6	159806021	.	A	C	4469.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.784;DP=1012;ExcessHet=0.119;FS=0.785;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.37;SOR=0.752	GT:AD:DP:GQ:PL	0/1:100,92:192:99:2329,0,2599	17	0	2	0
chr6	160611561	160611561	C	T	splicing	LPA	NM_005577:exon16:c.2603+1G>A	.	.	.	4	1501	16	1	0	18	0.00596026	1.0000	0.814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	0.0010	0.0005	0	0.0002	0	0.0002	0.0034	0.0055	0.0007891	122	154602	rs559580002	0.0005	0.0005	0.0003	0.0007	0.0054	0.0005	0.0004	0.0050	0.0048	0.0003	8.946e-05	0	5.039e-05	4.12e-05	0.0010	0.0002	0.0005	0.0054	0.0004	0.0004	0.0002	0.0006	0.0046	0.0003	0.0003	0.0031	0.0026	0.0004	0	0.0003	0	0.0004	0	0	0.0002	0	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.292976	0.09339	T	-0.192388	0.55367	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.066204	0.60378	24.2	0.96847937014010188	0.31331	0.69347	0.34152	D	AEFGBI	.	.	.	0.589732501926931	0.72534	5.820752	0.306737425372539	0.55935	3.756373	5.4153323545489E-5	0.04171	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.323391	0.35515	2.17	2.17	0.26736	1.944000	0.39890	7.038000	0.57326	-1.905000	0.00520	1.000000	0.71638	1.000000	0.68203	0.000000	0.00833	0.0:1.0:0.0:0.0	7.828	0.28490	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2348.33	105	chr6	160611561	.	C	T	2348.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.654;DP=1688;ExcessHet=0;FS=1.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.38;MQRankSum=1.97;QD=11.74;ReadPosRankSum=0.776;SOR=0.555	GT:AD:DP:GQ:PL	0/1:103,97:200:99:2362,0,2449	18	0	1	0
chr6	161098318	161098318	-	CTGCTGCTG	exonic	MAP3K4	.	nonframeshift insertion	MAP3K4:NM_001301072:exon17:c.3553_3554insCTGCTGCTG:p.A1195_V1196insAAA,MAP3K4:NM_005922:exon17:c.3565_3566insCTGCTGCTG:p.A1199_V1200insAAA,MAP3K4:NM_001291958:exon18:c.1924_1925insCTGCTGCTG:p.A652_V653insAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs763893932	5.05e-05	4.857e-05	5.105e-05	4.995e-05	9.611e-05	4.059e-05	3.719e-05	3.574e-05	3.16e-05	9.611e-05	2.385e-05	0	0	2.064e-05	0	4.616e-05	0.0002	7.383e-05	6.644e-05	6.566e-05	6.481e-05	6.815e-05	0.0002	3.553e-05	2.743e-05	7.977e-05	5.642e-05	0.0002	0	0	0	0	0	0	4.438e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	55868.5	99	chr6	161098318	.	C	CCTGCTGCTG	55868.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=1561;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=28.44;ReadPosRankSum=-0.379;SOR=1.672	GT:AD:DP:GQ:PL	0/1:2,28:76:99:2343,1282,1713	18	0	1	0
chr6	167315412	167315412	T	C	exonic	UNC93A	.	nonsynonymous SNV	UNC93A:NM_001143947:exon7:c.T1208C:p.V403A,UNC93A:NM_018974:exon8:c.T1334C:p.V445A	.	413	1039	70	0	0	70	0.0325885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00171249185324	.	.	0.0023	0.0020	0.0004	0.0024	0.0026	0.0029	0.0077	0.0012	7.68e-05	2	26028	rs752323292	0.0005	0.0067	0.0005	0.0005	0.0041	0.0004	0.0004	0.0036	0.0034	0.0001	2.266e-05	7.901e-05	0.0041	0.0010	0.0014	0.0003	0.0008	0.0006	0.0006	0.0063	0.0006	0.0007	0.0017	0.0005	0.0005	0.0008	0.0006	0.0004	0	0.0004	0	0.0017	0.0011	0	0.0007	0.0005	0.0014	0.755	0.03533	T	0.788	0.04220	T	0.0	0.02946	B	0.0	0.01387	B	0.029466	0.01703	N	2.657010	1	0.08975	N	-0.895	0.01383	N	3.61	0.04446	T	0.85	0.01736	N	0.022	0.00666	-0.9323	0.43799	T	0.001	0.00438	T	10	0.006008148	0.00135	T	0.001712	0.02856	T	0.047	0.12962	.	.	0.0138822411134	0.00435	0.13178615577524272	0.13103	0.284254945411	0.30848	0.244545891881	0.03215	T	0.001207	0.00701	T	-0.446715	0.01181	T	-0.879451	0.00658	T	0.00895254053920366	0.00112	T	0.0821918	0.00603	T	0.016546153	0.00205	0.036088627	0.02986	0.016546153	0.00205	0.036088627	0.02986	-3.06	0.12914	T	.	.	0.058	0.02578	B	.;.	.;.	-0.244935	0.02869	0.407	0.4228581334093004	0.03107	0.00142	0.00866	N	AEFDGBI	0.051140	0.09005	N	-1.66025916697445	0.00992	0.04303088	-1.6744461208731	0.01255	0.05655026	0.812093583063515	0.24374	0.59774	0.34471	0	0.627178	0.54094	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.86	-3.95	0.03844	-0.367000	0.07607	-3.275000	0.02915	-0.423000	0.05224	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3648:0.155:0.2022:0.2779	0.201	0.00135	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	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	0.019553	0.017857	0.000000	0.033613	0.000000	0.017241	0.027972	0.027778	0.02632	54.34	43	chr6	167315412	.	T	C	54.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.832;DP=924;ExcessHet=0;FS=5.829;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.026;MQ=57.24;MQRankSum=-7.875;QD=0.56;ReadPosRankSum=1.11;SOR=0.971	GT:AD:DP:GQ:PL	0/1:89,8:97:68:68,0,3707	18	0	1	0
chr6	167976202	167976202	G	0	exonic	HGC6.3	.	.	.	.	547	870	80	2	23	107	0.0460526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5720.2	79	chr6	167976202	.	G	*	5720.2	.	AC=3;AF=0.083;AN=36;BaseQRankSum=0.631;DP=1057;ExcessHet=2.9153;FS=4.05;InbreedingCoeff=-0.2472;MLEAC=3;MLEAF=0.083;MQ=53.24;MQRankSum=2.93;QD=10.77;ReadPosRankSum=0.818;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,42:149:99:0|1:167976186_T_C:1441,0,4366:167976186	15	0	3	1
chr6	167976212	167976212	A	0	exonic	HGC6.3	.	.	.	.	463	956	84	1	18	104	0.043043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	5284.85	73	chr6	167976212	.	A	*	5284.85	.	AC=3;AF=0.088;AN=34;BaseQRankSum=0.889;DP=1048;ExcessHet=0.7503;FS=4.987;InbreedingCoeff=0.0409;MLEAC=3;MLEAF=0.088;MQ=51.56;MQRankSum=2.66;QD=9.99;ReadPosRankSum=0.83;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,42:149:99:0|1:167976186_T_C:1441,0,4366:167976186	14	0	3	2
chr6	167976228	167976228	T	0	exonic	HGC6.3	.	.	.	.	453	974	78	0	17	95	0.0384995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	4068.23	72	chr6	167976228	.	T	*	4068.23	.	AC=3;AF=0.088;AN=34;BaseQRankSum=1.79;DP=1040;ExcessHet=3.116;FS=7.088;InbreedingCoeff=-0.0808;MLEAC=3;MLEAF=0.088;MQ=50.27;MQRankSum=1.4;QD=7.84;ReadPosRankSum=-0.382;SOR=1.01	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,42:149:99:0|1:167976186_T_C:1441,0,4366:167976186	14	0	3	2
chr6	167976244	167976288	TGGGGAAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTT	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.365_409del:p.Q122_T137delinsP	.	435	1081	5	0	1	6	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0.0006	0	0.0003	0.0001921	5	26028	rs773489020	0.0019	0.0015	0.0016	0.0022	0.0099	0.0018	0.0018	0.0092	0.0089	0.0002	0.0028	0.0029	0.0085	0.0063	0.0010	0.0012	0.0026	0.0099	0.0051	0.0049	0.0043	0.0059	0.0156	0.0047	0.0046	0.0117	0.0104	0.0021	0.0075	0.0079	0.0035	0.0156	0.0071	0	0.0051	0.0079	0.0110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3195.76	59	chr6	167976243	.	GTGGGGAAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTT	G	3195.76	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.009;DP=969;ExcessHet=0.3672;FS=2.119;InbreedingCoeff=-0.0858;MLEAC=3;MLEAF=0.079;MQ=57.47;MQRankSum=-1.437;QD=11.02;ReadPosRankSum=0.235;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,40:136:99:0|1:167976186_T_C:1391,0,3911:167976186	16	0	3	0
chr6	167976245	167976245	G	0	exonic	HGC6.3	.	.	.	.	448	1014	2	0	58	60	0.000985222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3812.41	67	chr6	167976245	.	G	*	3812.41	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.134;DP=990;ExcessHet=0.6689;FS=6.063;InbreedingCoeff=0.05;MLEAC=3;MLEAF=0.079;MQ=50.69;MQRankSum=-0.375;QD=8.03;ReadPosRankSum=-0.369;SOR=1.099	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,40:136:99:0|1:167976186_T_C:1391,0,3911:167976186	16	0	3	0
chr6	167976249	167976291	AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG	0	exonic	HGC6.3	.	.	.	.	467	870	90	30	65	215	0.0793651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	6299.23	29	chr6	167976249	.	AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG	*	6299.23	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.61;DP=951;ExcessHet=0.145;FS=3.209;InbreedingCoeff=0.2692;MLEAC=3;MLEAF=0.079;MQ=53.73;MQRankSum=-4.637;QD=11.64;ReadPosRankSum=-0.112;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,38:120:99:1|0:167976186_T_C:1364,0,3062:167976186	16	0	3	0
chr6	167976271	167976271	T	0	exonic	HGC6.3	.	.	.	.	531	815	51	0	125	176	0.0303391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	770.82	29	chr6	167976271	.	T	*	770.82	.	AC=8;AF=0.222;AN=36;BaseQRankSum=3.2;DP=918;ExcessHet=0.0665;FS=4.958;InbreedingCoeff=0.3504;MLEAC=8;MLEAF=0.222;MQ=51.17;MQRankSum=-5.196;QD=1.72;ReadPosRankSum=-0.883;SOR=0.463	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,38:120:99:1|0:167976186_T_C:1364,0,3062:167976186	12	2	4	1
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3205.38	29	chr6	167976273	.	A	*	3205.38	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.21;DP=943;ExcessHet=0.0378;FS=5.934;InbreedingCoeff=0.3968;MLEAC=9;MLEAF=0.25;MQ=56.14;MQRankSum=-2.716;QD=6.51;ReadPosRankSum=0.409;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,38:120:99:1|0:167976186_T_C:1364,0,3062:167976186	11	2	5	1
chr6	167976313	167976313	T	C	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.A340G:p.M114V	.	462	1045	14	0	1	15	0.00665399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	0.0018826	49	26028	rs36129172	0.0024	0.0016	0.0021	0.0028	0.0160	0.0023	0.0023	0.0148	0.0144	0.0001	0.0052	0.0046	0.0042	0.0082	0.0017	0.0016	0.0033	0.0160	0.0057	0.0064	0.0050	0.0065	0.0131	0.0053	0.0052	0.0093	0.0080	0.0021	0.0132	0.0092	0.0042	0.0131	0.0071	0	0.0062	0.0079	0.0120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007812	0.000000	0.046667	0.000000	0.000000	0.045455	0.000000	0.000000	0.07895	2469.79	40	chr6	167976313	.	T	C	2469.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.19;DP=941;ExcessHet=0.3672;FS=11.906;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=56.63;MQRankSum=-1.376;QD=10.65;ReadPosRankSum=1.38;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,31:106:99:0|1:167976186_T_C:1076,0,3056:167976186	16	0	3	0
chr6	167976332	167976332	G	0	exonic	HGC6.3	.	.	.	.	448	1017	42	0	15	57	0.0202312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1448.95	41	chr6	167976332	.	G	*	1448.95	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.375;DP=985;ExcessHet=1.3;FS=5.804;InbreedingCoeff=-0.1515;MLEAC=3;MLEAF=0.079;MQ=54.14;MQRankSum=1.4;QD=4.27;ReadPosRankSum=-0.056;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,25:109:99:.:.:879,0,2211:.	16	0	3	0
chr6	167976347	167976371	GGGGGTCATTCCCCCTGCAGTGTGG	-	exonic	HGC6.3	.	frameshift deletion	HGC6.3:NM_001129895:exon1:c.282_306del:p.H95Lfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1487569600	0.0016	0.0011	0.0014	0.0019	0.0089	0.0015	0.0015	0.0082	0.0079	0.0001	0.0043	0.0034	0.0024	0.0059	0.0012	0.0011	0.0022	0.0089	0.0043	0.0047	0.0038	0.0048	0.0084	0.0040	0.0038	0.0060	0.0052	0.0017	0.0076	0.0064	0.0036	0.0084	0.0045	0	0.0047	0.0061	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2157.63	47	chr6	167976346	.	TGGGGGTCATTCCCCCTGCAGTGTGG	T	2157.63	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.871;DP=1032;ExcessHet=0.7564;FS=9.385;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=55.02;MQRankSum=-0.624;QD=6.29;ReadPosRankSum=2.01;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,24:113:99:0|1:167976186_T_C:741,0,3628:167976186	16	0	3	0
chr6	167976380	167976415	GAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGG	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.238_273del:p.P80_F91del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1194754376	0.0015	0.0011	0.0013	0.0017	0.0082	0.0014	0.0014	0.0074	0.0072	0.0001	0.0031	0.0032	0.0022	0.0052	0.0006	0.0010	0.0021	0.0082	0.0038	0.0043	0.0034	0.0042	0.0072	0.0035	0.0034	0.0052	0.0045	0.0016	0.0069	0.0058	0.0027	0.0072	0.0043	0	0.0041	0.0048	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1746.75	74	chr6	167976379	.	AGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGG	A	1746.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.679;DP=1083;ExcessHet=0.3672;FS=8.824;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=56.2;MQRankSum=-2.093;QD=7.04;ReadPosRankSum=1.17;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,23:109:99:0|1:167976186_T_C:707,0,3542:167976186	16	0	3	0
chr6	167976421	167976426	AGAAGA	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.227_232del:p.V76_S78delinsA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1465520346	0.0015	0.0011	0.0013	0.0017	0.0083	0.0014	0.0014	0.0075	0.0072	0.0001	0.0042	0.0034	0.0019	0.0063	0.0006	0.0010	0.0020	0.0083	0.0037	0.0044	0.0034	0.0039	0.0072	0.0034	0.0033	0.0051	0.0043	0.0015	0.0076	0.0054	0.0034	0.0072	0.0034	0	0.0043	0.0048	0.0051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	1866.2	67	chr6	167976420	.	GAGAAGA	G	1866.2	.	AC=3;AF=0.088;AN=34;BaseQRankSum=0.709;DP=1044;ExcessHet=0.4139;FS=9.076;InbreedingCoeff=0.1556;MLEAC=3;MLEAF=0.088;MQ=56.37;MQRankSum=-1.778;QD=8.44;ReadPosRankSum=0.41;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,24:99:99:0|1:167976186_T_C:773,0,3010:167976186	14	0	3	2
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,61:66:28:0|1:170561949_GCAA_G:2223,0,28:170561949	0	12	7	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	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4444	1206.95	21	chr7	290725	.	C	G	1206.95	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.395;DP=627;ExcessHet=25.4433;FS=271.165;InbreedingCoeff=-0.7777;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=1.14;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,11:39:44:.:.:44,0,404:.	2	0	16	1
chr7	1440649	1440649	C	T	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon8:c.G1747A:p.G583R	.	416	992	110	4	0	118	0.056137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0058	0.00958466	0.0111	0.0014	0.0042	0.0002	0.0012	0.0092	0.0235	0.0387	0.0103815	1605	154602	rs118132501	0.0097	0.0097	0.0085	0.0108	0.0387	0.0095	0.0095	0.0376	0.0372	0.0019	0.0045	0.0214	5.038e-05	0.0018	0.0317	0.0081	0.0106	0.0387	0.0069	0.0070	0.0062	0.0077	0.0391	0.0066	0.0065	0.0345	0.0327	0.0011	0.0647	0.0083	0.0231	0	0.0016	0.0034	0.0077	0.0085	0.0391	0.01	0.56456	D	0.289	0.21078	T	0.998	0.73220	D	0.629	0.51727	P	0.785298	0.09439	N	0.854456	1	0.08975	N	0.55	0.14455	N	-0.5	0.70480	T	-2.9	0.60827	D	0.274	0.31027	-0.8680	0.50679	T	0.228	0.59372	T	10	0.003394574	0.00059	T	.	.	.	0.085	0.24743	0.254	0.19378	.	.	0.17260096805414704	0.17180	0.0127105137452	0.01221	0.354136884212	0.18529	T	0.005327	0.04780	T	-0.389267	0.02720	T	-0.304068	0.44293	T	0.0421110538412396	0.04076	T	0.717028	0.32946	T	0.07449362	0.16722	0.08943037	0.20911	0.07449362	0.16722	0.08943037	0.20911	-4.714	0.33573	T	.	.	0.185	0.40048	B	.	.	1.897278	0.24095	16.27	0.71380055128778219	0.09609	0.04398	0.09982	N	AEFGBI	0.094525	0.19111	N	-0.45859534911735	0.23449	1.259348	-0.634506495118654	0.18609	0.9948502	0.314020614395515	0.19317	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	2.22	0.27116	0.800000	0.26703	1.295000	0.25437	0.597000	0.34315	0.000000	0.06391	0.007000	0.19602	0.040000	0.14268	0.0:0.6189:0.1779:0.2032	4.792	0.12621	940	0.13648	.	.	.	.	.	.	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	0.031219	0.000000	0.013587	0.049708	0.050000	0.025862	0.051829	0.045455	0.02632	962.33	33	chr7	1440649	.	C	T	962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.637;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.506;SOR=0.691	GT:AD:DP:GQ:PL	0/1:39,41:80:99:976,0,879	18	0	1	0
chr7	2712712	2712712	C	T	exonic	AMZ1	.	nonsynonymous SNV	AMZ1:NM_001384739:exon7:c.C1262T:p.T421M,AMZ1:NM_001384743:exon7:c.C1331T:p.T444M,AMZ1:NM_133463:exon7:c.C1331T:p.T444M	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0433178747881	0.0012	0.00179712	0.0015	0.0040	0.0005	0	0	6.3e-05	0	0.0084	0.0012354	191	154602	rs113735463	0.0006	0.0006	0.0004	0.0007	0.0073	0.0005	0.0005	0.0068	0.0066	0.0035	0.0003	0	2.521e-05	0	0.0003	2.162e-05	0.0008	0.0073	0.0012	0.0012	0.0011	0.0014	0.0058	0.0011	0.0010	0.0041	0.0036	0.0037	0	0.0002	0	0.0002	0	0	2.94e-05	0.0005	0.0058	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000015	0.62929	D	0.000000	0.942956	0.81001	D	1.545	0.39105	L	1.54	0.30133	T	-2.2	0.49519	N	0.589	0.60918	-0.9220	0.45279	T	0.147	0.47290	T	10	0.0117715	0.00256	T	0.043318	0.60920	D	0.154	0.40340	.	.	0.243972157842	0.24002	0.40489523919639625	0.40405	.	.	0.514858067036	0.40903	T	0.049509	0.28327	T	-0.378385	0.03190	T	-0.311595	0.43488	T	0.0340002219830393	0.02638	T	0.887811	0.61653	D	0.22644955	0.45326	0.2794312	0.53911	0.22644955	0.45326	0.2794312	0.53910	-4.653	0.32830	T	.	.	0.167	0.36850	B	.	.	3.301764	0.45331	22.1	0.99816306737025495	0.89973	0.69615	0.34258	D	AEFDBCI	0.256921	0.37575	N	0.269030876630798	0.54586	3.623842	0.160574826071248	0.47704	2.996753	0.999974537743995	0.50053	0.62174	0.39705	0	0.588066	0.40923	0	0.491614	0.08109	1	0.613276	0.41899	0	.	.	4.67	3.79	0.42757	2.372000	0.43911	1.235000	0.25068	0.599000	0.40250	0.973000	0.34540	0.698000	0.26216	0.257000	0.23443	0.0:0.9094:0.0:0.0906	10.680	0.45004	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	0.000504	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1100.33	74	chr7	2712712	.	C	T	1100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=821;ExcessHet=0;FS=2.038;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=1.28;SOR=1.04	GT:AD:DP:GQ:PL	0/1:31,37:68:99:1114,0,796	18	0	1	0
chr7	3951786	3951786	-	CCT	exonic	SDK1	.	nonframeshift insertion	SDK1:NM_152744:exon7:c.1016_1017insCCT:p.L340_H341insL	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00119808	0.0014	0.0002	0.0009	0	0.0006	0.0016	0.0011	0.0024	0.0002305	6	26028	rs557107791	0.0009	0.0009	0.0009	0.0010	0.0049	0.0009	0.0009	0.0034	0.0030	0.0001	0.0008	0.0018	0	0.0003	0.0049	0.0008	0.0018	0.0022	0.0007	0.0007	0.0006	0.0008	0.0027	0.0006	0.0006	0.0016	0.0013	0.0002	0.0044	0.0005	0.0009	0	0.0003	0	0.0010	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.005051	0.001359	0.002924	0.050000	0.000000	0.015244	0.000000	0.02632	2258.29	34	chr7	3951786	.	G	GCCT	2258.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.855;DP=773;ExcessHet=0;FS=0.622;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=1.93;SOR=0.76	GT:AD:DP:GQ:PL	0/1:82,60:142:99:2272,0,3243	18	0	1	0
chr7	5967064	5967064	G	A	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon3:c.C53T:p.S18F,RSPH10B:NM_173565:exon3:c.C53T:p.S18F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0598829145343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.004	0.74150	D	0.988	0.62325	D	0.694	0.53938	P	0.294475	0.03915	N	1.583530	0.960321	0.26151	N	1.995	0.54099	M	0.42	0.56937	T	-2.46	0.53736	N	0.237	0.26717	-0.8529	0.51767	T	0.293	0.66431	T	10	0.2821738	0.45796	T	0.059883	0.67815	D	0.250	0.55888	0.325	0.30711	0.537034694273	0.53353	0.3054105595686339	0.30454	.	.	0.510692000389	0.40320	T	0.021555	0.16767	T	-0.0749431	0.40534	T	-0.345427	0.39727	T	0.77496212720871	0.44740	D	0.740526	0.35940	T	0.10139629	0.23952	0.15439272	0.36238	0.10139629	0.23951	0.15439272	0.36237	-6.557	0.50724	T	.	.	0.096	0.18331	B	.;.;.	.;.;.	2.932783	0.38970	20.9	0.99664102506800933	0.78138	0.36593	0.25568	N	AEFGI	0.159015	0.28475	N	-0.089195827682142	0.37865	2.209233	-0.216554733827431	0.30941	1.746601	0.0213613938495533	0.13342	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.48	4.6	0.56512	2.271000	0.43023	7.129000	0.57618	-0.852000	0.02700	0.076000	0.22236	1.000000	0.68203	0.008000	0.08271	0.0783:0.0:0.9217:0.0	13.039	0.58292	878	0.29785	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	32.49	44	chr7	5967064	.	G	A	32.49	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-3.231;DP=766;ExcessHet=0.1259;FS=0;InbreedingCoeff=-0.2129;MLEAC=3;MLEAF=0.125;MQ=26.95;MQRankSum=0;QD=0.35;ReadPosRankSum=1.44;SOR=0.114	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,8:42:33:0|1:5967064_G_A:33,0,1221:5967064	10	0	2	7
chr7	6642492	6642492	-	GGAAGAAGAGGAGGAGGAGGAGGAAAAGGGGGAAGAGGTGCAGGAGGT	exonic	ZNF316	.	nonframeshift insertion	ZNF316:NM_001278559:exon5:c.83_84insGGAAGAAGAGGAGGAGGAGGAGGAAAAGGGGGAAGAGGTGCAGGAGGT:p.E50_I51insEEKGEEVQEVEEEEEE	.	360	1161	1	0	0	1	0.000430478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	.	.	.	.	.	.	.	.	0.0006147	16	26028	rs561225165	4.439e-05	9.715e-05	3.681e-05	5.286e-05	0.0014	3.438e-05	3.04e-05	0.0010	0.0008	0	0.0002	0	0	0	0.0003	1.412e-05	0.0001	0.0014	0.0002	0.0002	0.0001	0.0002	0.0052	0.0001	0.0001	0.0036	0.0031	0	0	0	0	0	0	0	1.471e-05	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	722.29	38	chr7	6642492	.	A	AGGAAGAAGAGGAGGAGGAGGAGGAAAAGGGGGAAGAGGTGCAGGAGGT	722.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=694;ExcessHet=0;FS=5.023;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.64;ReadPosRankSum=-2.619;SOR=0.946	GT:AD:DP:GQ:PL	0/1:15,20:35:99:736,0,577	18	0	1	0
chr7	7673311	7673334	AGCAGCAGCAGCAGCAGCAGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1323824909	0.0022	0.0016	0.0017	0.0027	0.0147	0.0022	0.0021	0.0139	0.0136	0.0129	0.0013	0.0007	0.0003	0.0015	0.0069	0.0007	0.0024	0.0147	0.0077	0.0075	0.0073	0.0081	0.0216	0.0073	0.0071	0.0204	0.0199	0.0216	0	0.0019	0.0012	0.0002	0.0024	0.0069	0.0017	0.0076	0.0200	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	16436.0	20	chr7	7673310	.	TAGCAGCAGCAGCAGCAGCAGCAGC	T	16436.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.232;DP=697;ExcessHet=1.3;FS=1.679;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=32.74;ReadPosRankSum=0.223;SOR=0.97	GT:AD:DP:GQ:PL	0/1:21,19:42:99:722,0,821	18	0	1	0
chr7	21903034	21903034	G	C	exonic	CDCA7L	.	nonsynonymous SNV	CDCA7L:NM_001127371:exon8:c.C1140G:p.I380M,CDCA7L:NM_018719:exon9:c.C1278G:p.I426M,CDCA7L:NM_001127370:exon10:c.C1176G:p.I392M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00744940412243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.17761	T	0.246	0.24264	T	0.549	0.38101	P	0.161	0.34794	B	0.000013	0.62929	D	0.145320	0.519053	0.31584	N	1.755	0.45626	L	0.77	0.50192	T	-1.52	0.36980	N	0.376	0.43514	-0.9515	0.40712	T	0.093	0.35336	T	10	0.36910453	0.53334	T	0.007449	0.19765	T	0.067	0.19503	0.713	0.84872	0.530852358449	0.52733	0.5385208609000753	0.53777	1.02496037696	0.75236	0.567820072174	0.48370	T	0.099752	0.40487	T	-0.1685	0.25463	T	-0.479815	0.24466	T	0.239356532692909	0.22390	T	0.739226	0.35772	T	0.13321584	0.30993	0.122075036	0.29450	0.13321584	0.30993	0.122075036	0.29449	-7.701	0.59126	D	.	.	0.178	0.38853	B	.;.;.	.;.;.	2.337519	0.29950	18.29	0.77285325382982761	0.11812	0.91246	0.53147	D	AEFBI	0.429229	0.49243	N	-0.244863286640542	0.31308	1.754263	-0.155350697975854	0.33203	1.89687	0.99681151548696	0.35031	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.22	2.21	0.27042	2.281000	0.43113	4.961000	0.46342	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1902:0.3273:0.4826:0.0	6.441	0.21053	822	0.40702	.;Zinc-finger domain of monoamine-oxidase A repressor R1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09091	39.57	145	chr7	21903034	.	G	C	39.57	.	AC=2;AF=0.091;AN=22;BaseQRankSum=-1.907;DP=1379;ExcessHet=0.119;FS=168.119;InbreedingCoeff=-0.2036;MLEAC=2;MLEAF=0.091;MQ=60;MQRankSum=0;QD=0.16;ReadPosRankSum=1.42;SOR=9.19	GT:AD:DP:GQ:PL	0/1:96,24:120:5:5,0,1874	9	0	2	8
chr7	23781504	23781504	A	G	exonic	STK31	.	nonsynonymous SNV	STK31:NM_001260504:exon16:c.A1982G:p.H661R,STK31:NM_001260505:exon16:c.A2051G:p.H684R,STK31:NM_031414:exon16:c.A2051G:p.H684R,STK31:NM_032944:exon16:c.A1982G:p.H661R	.	449	1021	49	3	0	55	0.0262279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0045	0.0103834	0.0079	0.0009	0.0026	0.0002	0.0003	0.0066	0.0111	0.0278	0.0073996	1144	154602	rs41273999	0.0060	0.0061	0.0053	0.0067	0.0278	0.0059	0.0059	0.0269	0.0265	0.0011	0.0030	0.0096	7.602e-05	0.0010	0.0209	0.0048	0.0079	0.0278	0.0042	0.0042	0.0038	0.0045	0.0263	0.0039	0.0038	0.0226	0.0212	0.0008	0	0.0044	0.0078	0	0.0005	0.0068	0.0053	0.0047	0.0263	0.662	0.04671	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.182217	0.17072	N	0.505693	0.988811	0.24368	N	0.49	0.13296	N	-0.15	0.65192	T	-0.35	0.12847	N	0.173	0.37301	-1.0199	0.23747	T	0.070	0.28708	T	10	0.0037102103	0.00068	T	.	.	.	0.064	0.18567	.	.	0.489938136499	0.48625	0.3644048311763441	0.36354	0.0671763946976	0.07503	0.306679606438	0.11405	T	7.55E-4	0.00354	T	-0.516774	0.00459	T	-0.494814	0.22886	T	0.000411108664880323	0.00003	T	0.60444	0.23473	T	0.040007167	0.05631	0.057216644	0.10363	0.040007167	0.05631	0.057216644	0.10362	-2.327	0.04705	T	.	.	0.054	0.00478	B	.;.;.	.;.;.	1.417616	0.18337	13.68	0.17921150690072041	0.00542	0.43593	0.27132	N	AEFI	0.079134	0.15977	N	-0.806970563940849	0.13132	0.644779	-0.670014664965709	0.17712	0.9430189	1.64631360154252E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.07	-0.0622	0.13113	0.959000	0.28838	0.915000	0.22659	0.691000	0.84096	0.997000	0.40164	0.408000	0.24745	0.927000	0.46353	0.4894:0.0:0.5106:0.0	10.015	0.41180	606	0.67383	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.019637	0.005051	0.006793	0.014620	0.000000	0.025862	0.030488	0.034091	0.02632	820.33	34	chr7	23781504	.	A	G	820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.222;DP=704;ExcessHet=0;FS=1.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=0.576;SOR=0.471	GT:AD:DP:GQ:PL	0/1:43,39:82:99:834,0,1031	18	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	510.68	118	chr7	43624718	.	C	G	510.68	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.361;DP=2084;ExcessHet=5.3738;FS=242.676;InbreedingCoeff=-0.3047;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=1.5;SOR=12.174	GT:AD:DP:GQ:PL	0/1:82,35:117:99:159,0,1561	10	0	9	0
chr7	44539148	44539148	G	A	exonic	NPC1L1	.	nonsynonymous SNV	NPC1L1:NM_001101648:exon2:c.C1249T:p.R417W,NPC1L1:NM_001300967:exon2:c.C1249T:p.R417W,NPC1L1:NM_013389:exon2:c.C1249T:p.R417W	.	425	1089	8	0	0	8	0.00365965	.	.	.	3191555	NPC1L1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.600	0.146625606804	0.0012	0.000199681	0.0013	9.623e-05	0.0003	0	0.0003	0.0019	0.0011	0.0012	0.0011449	177	154602	rs139659653	0.0012	0.0012	0.0012	0.0013	0.0019	0.0012	0.0012	0.0011	0.0011	0.0001	0.0007	0.0118	0	0.0001	0.0019	0.0012	0.0015	0.0010	0.0010	0.0010	0.0010	0.0010	0.0015	0.0008	0.0008	0.0010	0.0009	0.0001	0	0.0005	0.0121	0.0002	9.427e-05	0	0.0012	0.0009	0.0015	0.104	0.46129	T	0.002	0.83351	D	0.999	0.77913	D	0.855	0.60933	P	0.000096	0.51296	D	0.125811	0.999984	0.19238	N	2.97	0.85306	M	-2.4	0.88455	D	-2.92	0.66325	D	0.549	0.58373	0.147	0.85004	D	0.761	0.91876	D	10	0.010629088	0.00236	T	0.146626	0.82873	D	0.600	0.84183	.	.	0.935226504704	0.93455	0.7446716218337328	0.74413	0.517787163206	0.49640	0.248774603009	0.03639	T	0.228255	0.59376	T	-0.0594518	0.42992	T	0.101292	0.76994	D	0.106556107136096	0.13063	T	0.931907	0.74605	D	0.114302084	0.26985	0.0862351	0.19965	0.114302084	0.26985	0.0862351	0.19965	-6.116	0.54070	T	.	.	0.132	0.37596	B	.;.;.;.	.;.;.;.	3.534790	0.49613	22.8	0.99787104343050581	0.87308	0.50755	0.28736	D	AEFDBI	0.493239	0.52954	N	0.0518067213206006	0.44226	2.700493	-0.0926892771035825	0.35691	2.067921	0.999990532074869	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	3.13	0.35090	0.417000	0.20934	2.594000	0.33484	0.676000	0.76740	0.000000	0.06391	0.239000	0.23838	0.995000	0.73285	0.0:0.0:0.6755:0.3245	11.552	0.49980	783	0.47268	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1283.33	35	chr7	44539148	.	G	A	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.23;DP=751;ExcessHet=0;FS=0.689;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-0.642;SOR=0.807	GT:AD:DP:GQ:PL	0/1:74,48:122:99:1297,0,1952	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3947	4446.21	147	chr7	47829596	.	G	C	4446.21	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-0.867;DP=2277;ExcessHet=25.4433;FS=276.126;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.54;ReadPosRankSum=0.158;SOR=13.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,38:127:99:.:.:242,0,999:.	4	0	15	0
chr7	50368103	50368103	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C258G:p.C86W	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633516232254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.992	0.64738	D	0.668	0.53048	P	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-3.55	0.68764	D	0.367	0.40864	-1.0175	0.24528	T	0.112	0.40168	T	7	0.22200659	0.38941	T	0.006335	0.16639	T	0.049	0.13647	0.296	0.26041	0.134007934775	0.12933	.	.	.	.	.	.	.	0.208199	0.56807	T	-0.197415	0.21179	T	-0.521349	0.20158	T	0.298957865891781	0.24961	T	0.225777	0.02969	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807	0.77631	P	.	.	0.166192	0.05559	2.017	0.58119396721632754	0.05921	0.02436	0.06868	N	AEFGBIJ	0.155410	0.28061	N	-0.424791676120027	0.24603	1.329603	-0.604950428239627	0.19365	1.038678	0.99998324477684	0.51787	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	3.1	0.34780	0.101000	0.15088	-0.142000	0.11507	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.0:0.1191:0.0:0.8809	5.968	0.18570	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	220.1	194	chr7	50368103	.	C	G	220.1	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.91;DP=2083;ExcessHet=0.7564;FS=116.86;InbreedingCoeff=-0.1132;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=2.09;SOR=9.49	GT:AD:DP:GQ:PL	0/1:144,36:180:98:98,0,4480	17	0	2	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2353	1577.5	244	chr7	50368104	.	C	G	1577.5	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-4.459;DP=2555;ExcessHet=4.0268;FS=190.894;InbreedingCoeff=-0.3109;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=2.98;SOR=12.201	GT:AD:DP:GQ:PL	0/1:131,36:174:99:109,0,4403	9	0	8	2
chr7	64348140	64348140	G	A	exonic	ZNF736	.	nonsynonymous SNV	ZNF736:NM_001170905:exon4:c.G277A:p.D93N	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000825004832707	.	0.00239617	0.0027	0.0012	0.0036	0	0.0006	0.0055	0	0.0008	0.0013066	202	154602	rs145262202	0.0063	0.0060	0.0066	0.0060	0.0076	0.0062	0.0062	0.0075	0.0074	0.0008	0.0028	0.0012	0	0.0013	0.0011	0.0076	0.0057	0.0009	0.0036	0.0036	0.0040	0.0031	0.0063	0.0033	0.0032	0.0058	0.0056	0.0010	0	0.0029	0.0020	0	0.0009	0	0.0063	0.0033	0.0008	0.081	0.33418	T	0.197	0.27855	T	0.98	0.59353	D	0.811	0.58656	P	.	.	.	.	0.999705	0.20638	N	1.695	0.43389	L	3.58	0.04594	T	-3.41	0.67129	D	0.057	0.03069	-1.0110	0.26604	T	0.016	0.06569	T	9	0.0052132905	0.00113	T	8.25E-4	0.00670	T	0.021	0.04004	.	.	0.146414634003	0.14194	0.03673657550673344	0.03620	0.268492348923	0.29362	0.28343963623	0.07977	T	0.018795	0.15087	T	-0.720445	0.00027	T	-0.80139	0.01868	T	0.0344921122650999	0.02721	T	0.743326	0.36245	T	0.12180964	0.28636	0.1075897	0.25902	0.12180964	0.28636	0.1075897	0.25901	-6.272	0.48500	T	.	.	0.089	0.12371	B	.;.	.;.	1.344829	0.17516	13.21	0.99750897619059486	0.84228	0.00134	0.00826	N	AEFBCI	0.024460	0.01518	N	-0.292662432977171	0.29430	1.632006	-0.527122523670952	0.21418	1.158527	2.61353655978744E-4	0.06244	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.225	0.225	0.14598	-1.177000	0.03206	.	.	0.373000	0.20310	0.000000	0.06391	0.000000	0.08366	0.467000	0.28274	0.4409:0.0:0.5591:0.0	2.694	0.04812	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	0.001577	0.000000	0.000000	0.000000	0.000000	0.000000	0.006410	0.000000	0.02632	1129.33	33	chr7	64348140	.	G	A	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.386;DP=721;ExcessHet=0;FS=2.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.4;SOR=0.477	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1143,0,1678	18	0	1	0
chr7	64348849	64348849	G	A	exonic	ZNF736	.	nonsynonymous SNV	ZNF736:NM_001170905:exon4:c.G986A:p.S329N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000795909591681	0.0035	0.00159744	0.0037	0.0014	0.0022	0	0.0010	0.0060	0.0018	0.0003	0.002335	361	154602	rs182807224	0.0040	0.0040	0.0042	0.0038	0.0049	0.0039	0.0039	0.0048	0.0048	0.0005	0.0018	0.0008	0	0.0007	0.0007	0.0049	0.0038	0.0004	0.0022	0.0022	0.0026	0.0019	0.0038	0.0020	0.0020	0.0034	0.0033	0.0007	0	0.0026	0.0003	0	0.0004	0	0.0038	0.0025	0.0007	0.118	0.28148	T	0.137	0.33894	T	0.611	0.39680	P	0.257	0.39298	B	.	.	.	.	1	0.08975	N	0.745	0.18958	N	2.4	0.15608	T	-0.68	0.19509	N	0.026	0.00618	-1.0162	0.24948	T	0.016	0.06377	T	9	0.0042527914	0.00085	T	7.96E-4	0.00608	T	0.021	0.04004	.	.	0.0716867268079	0.06686	0.009844995164025828	0.00946	0.117771484121	0.13261	0.262423992157	0.05182	T	5.64E-4	0.00225	T	-0.71769	0.00029	T	-0.799963	0.01903	T	0.00971085772933082	0.00127	T	0.060194	0.00438	T	0.037121195	0.04698	0.056046966	0.09943	0.037121195	0.04698	0.056046966	0.09942	-4.199	0.26737	T	.	.	0.199	0.42141	B	.;.	.;.	0.199611	0.05846	2.287	0.70709505244704862	0.09385	0.00034	0.00302	N	AEFBHCI	0.019719	0.00711	N	-1.51851962936358	0.01727	0.07564088	-1.68215829661553	0.01218	0.05486911	0.00116122433417423	0.08293	0.719381	0.83141	0	0.723133	0.82719	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.645000	0.05506	.	.	0.373000	0.20310	0.000000	0.06391	0.000000	0.08366	0.810000	0.38174	0.0:0.2041:0.4558:0.3401	3.860	0.08497	840	0.37365	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001093	0.000000	0.001359	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	1188.33	33	chr7	64348849	.	G	A	1188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.275;DP=731;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=0.71;SOR=0.534	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1202,0,1114	18	0	1	0
chr7	72815472	72815472	T	C	exonic	TYW1B	.	nonsynonymous SNV	TYW1B:NM_001145440:exon3:c.A145G:p.T49A	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0016	9.688e-05	0.0150	0	0.0008	6.005e-05	0.0011	0.0005	0.0014553	225	154602	rs184391894	0.0005	0.0005	0.0006	0.0004	0.0136	0.0005	0.0005	0.0127	0.0123	0.0003	0.0136	0	2.534e-05	0.0005	0.0007	2.881e-05	0.0004	0.0006	0.0007	0.0007	0.0006	0.0008	0.0054	0.0006	0.0005	0.0045	0.0041	0.0002	0	0.0054	0	0	0.0005	0	4.41e-05	0.0014	0.0002	.	.	.	0.545	0.09588	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.16447	.	.	.	.	.	.	.	0.004697293	0.00099	T	.	.	.	.	.	.	.	0.107399877778	0.10242	0.3654886115886064	0.36462	.	.	0.250639557838	0.03835	T	0.019492	0.15519	T	-0.496641	0.00597	T	-0.47449	0.25033	T	.	.	.	0.438156	0.12052	T	0.06358137	0.13404	0.16258688	0.37759	0.06358137	0.13403	0.16258688	0.37758	-4.591	0.32058	T	.	.	0.064	0.03887	B	.;.;.	.;.;.	-0.627824	0.01498	0.094	0.67558660980193574	0.08391	0.02061	0.06149	N	AEFDBI	0.034355	0.04239	N	.	.	.	.	.	.	0.00452924939631249	0.10600	0.162113	0.03585	0	0.105846	0.03286	0	0.175069	0.04249	0	0.092715	0.02821	0	.	.	2.68	-3.03	0.05100	-1.050000	0.03621	-2.949000	0.03201	-0.295000	0.06246	0.000000	0.06391	0.000000	0.08366	0.530000	0.29707	0.0:0.3622:0.1587:0.4791	5.025	0.13721	878	0.29785	.;Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2608.33	33	chr7	72815472	.	T	C	2608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.937;DP=820;ExcessHet=0;FS=3.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.8;MQRankSum=-4.706;QD=13.38;ReadPosRankSum=1.03;SOR=0.491	GT:AD:DP:GQ:PL	0/1:90,105:195:99:2622,0,2165	18	0	1	0
chr7	72826863	72826863	C	T	exonic	TYW1B	.	nonsynonymous SNV	TYW1B:NM_001145440:exon2:c.G127A:p.E43K	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00738818	0.0033	0.0191	0.0156	0	0.0008	4.497e-05	0.0022	0.0005	0.0030853	477	154602	rs201638072	0.0010	0.0011	0.0012	0.0009	0.0200	0.0010	0.0010	0.0187	0.0182	0.0200	0.0145	0	2.522e-05	0.0005	0.0009	3.598e-05	0.0016	0.0006	0.0066	0.0066	0.0067	0.0066	0.0210	0.0063	0.0062	0.0198	0.0194	0.0210	0	0.0078	0	0	0.0005	0.0034	4.41e-05	0.0043	0.0002	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.36884	.	.	.	.	.	.	.	0.004748285	0.00100	T	.	.	.	.	.	.	.	0.302459207581	0.29844	0.5428715162759994	0.54212	.	.	0.32956585288	0.14869	T	0.010297	0.09311	T	-0.356574	0.04327	T	-0.269375	0.47882	T	.	.	.	0.353365	0.07952	T	0.03566698	0.04242	0.12613198	0.30381	0.03566698	0.04242	0.12613198	0.30380	-2.762	0.07839	T	.	.	0.064	0.13830	B	.;.;.	.;.;.	1.300225	0.17018	12.91	0.59324623606674343	0.06198	0.00193	0.01117	N	AEFBI	0.023712	0.01360	N	.	.	.	.	.	.	0.991762519133101	0.32601	0.162113	0.03585	0	0.079893	0.02001	0	0.175069	0.04249	0	0.088406	0.02457	0	.	.	2.62	2.62	0.30337	1.485000	0.35127	3.301000	0.37383	-0.272000	0.06708	0.995000	0.38783	1.000000	0.68203	0.015000	0.10482	0.0:0.1159:0.0:0.8841	7.081	0.24408	846	0.36215	.;Flavodoxin/nitric oxide synthase;.	.	.	.	.	.	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	0.000524	0.000000	0.001359	0.003676	0.000000	0.000000	0.000000	0.000000	0.02632	910.33	34	chr7	72826863	.	C	T	910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.15;DP=704;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.7;MQRankSum=-1.862;QD=12.14;ReadPosRankSum=-0.096;SOR=0.874	GT:AD:DP:GQ:PL	0/1:40,35:75:99:924,0,1078	18	0	1	0
chr7	72864101	72864101	G	C	exonic	SPDYE7P	.	nonsynonymous SNV	SPDYE7P:NM_001382704:exon6:c.C674G:p.P225R	.	417	1103	1	0	1	2	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	.	.	.	.	.	.	.	.	0.00011	17	154602	rs182572291	0.0002	0.0003	0.0002	0.0002	0.0044	0.0002	0.0002	0.0039	0.0037	0.0002	0.0044	0	2.519e-05	0.0003	0.0004	1.71e-05	0.0003	0.0004	0.0004	0.0006	0.0004	0.0005	0.0032	0.0004	0.0003	0.0025	0.0022	0.0002	0	0.0032	0	0	0.0005	0	2.942e-05	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	706.33	41	chr7	72864101	.	G	C	706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=814;ExcessHet=0;FS=11.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.99;MQRankSum=-8.833;QD=5.84;ReadPosRankSum=-4.049;SOR=2.031	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,26:121:99:0|1:72864101_G_C:720,0,3675:72864101	18	0	1	0
chr7	72864120	72864120	A	C	exonic	SPDYE7P	.	nonsynonymous SNV	SPDYE7P:NM_001382704:exon6:c.T655G:p.C219G	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs554867916	0.0003	0.0004	0.0003	0.0003	0.0052	0.0003	0.0002	0.0046	0.0044	0.0004	0.0052	0	0.0011	0.0004	0.0004	3.687e-05	0.0003	0.0005	0.0007	0.0008	0.0006	0.0007	0.0040	0.0006	0.0005	0.0032	0.0029	0.0005	0	0.0040	0	0.0006	0.0003	0	8.824e-05	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	925.33	41	chr7	72864120	.	A	C	925.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.09;DP=824;ExcessHet=0;FS=14.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.18;MQRankSum=-7.429;QD=7.12;ReadPosRankSum=-3.955;SOR=1.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,33:130:99:0|1:72864101_G_C:939,0,3675:72864101	18	0	1	0
chr7	72940853	72940853	T	C	exonic	POM121	.	nonsynonymous SNV	POM121:NM_172020:exon11:c.T908C:p.I303T,POM121:NM_001257190:exon13:c.T908C:p.I303T	.	542	978	2	0	0	2	0.00102145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00145418170853	.	.	0.0006	0.0001	0.0050	0	0.0003	3.634e-05	0	0.0004	0.0003458	9	26028	rs1248996137	0.0006	0.0006	0.0006	0.0005	0.0122	0.0005	0.0005	0.0114	0.0110	0.0004	0.0122	0	7.681e-05	0.0005	0.0008	9.71e-05	0.0004	0.0008	0.0006	0.0007	0.0006	0.0006	0.0045	0.0005	0.0005	0.0036	0.0033	0.0002	0	0.0045	0	0	0.0003	0	0.0001	0.0015	0.0011	0.518	0.07307	T	0.672	0.06265	T	0.0	0.02946	B	0.0	0.01387	B	0.429746	0.04697	N	1.407060	1	0.08975	N	-1.83	0.00276	N	3.43	0.05440	T	1.96	0.00461	N	0.044	0.02759	-0.9459	0.41665	T	0.006	0.02055	T	10	0.004666209	0.00098	T	0.001454	0.02189	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.10628538105815692	0.10558	.	.	0.417625248432	0.27511	T	0.002632	0.02024	T	-0.424262	0.01607	T	-0.8472	0.00996	T	0.00450448588551297	0.00048	T	0.0310969	0.00283	T	0.01604007	0.00172	0.026646793	0.00765	0.01604007	0.00172	0.026646793	0.00765	-1.651	0.02104	T	.	.	0.068	0.03849	B	.;.;.;.;.	.;.;.;.;.	0.255380	0.06345	2.805	0.34498242501759396	0.02113	0.00073	0.00509	N	AEFI	0.015122	0.00274	N	-1.47158998175939	0.02052	0.09023613	-1.4078455549889	0.03173	0.1474844	1.01464419932089E-5	0.01202	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.1	1.09	0.19517	-0.298000	0.08302	1.354000	0.25830	-0.744000	0.03643	0.000000	0.06391	0.001000	0.17328	0.138000	0.19872	0.0:0.4964:0.2253:0.2783	3.259	0.06438	437	0.80299	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	318.33	31	chr7	72940853	.	T	C	318.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.374;DP=469;ExcessHet=0;FS=1.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=28.57;MQRankSum=-2.896;QD=9.95;ReadPosRankSum=1.03;SOR=0.976	GT:AD:DP:GQ:PL	0/1:18,14:32:99:332,0,496	18	0	1	0
chr7	73553630	73553630	G	A	exonic	BCL7B	.	nonsynonymous SNV	BCL7B:NM_001301061:exon2:c.C43T:p.R15C	.	550	970	2	0	0	2	0.00102987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs553418490	0.0012	2.863e-05	0	0.0022	0.0019	0.0002	8.613e-05	0.0003	0.0001	0	.	.	.	0	0.0019	0	0	0	8.564e-05	8.537e-05	6.439e-05	0.0001	0.0017	4.969e-05	3.972e-05	0.0008	0.0006	4.835e-05	0	6.57e-05	0	0	0	0	2.943e-05	0	0.0017	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.166	0.17553	.	.	.	.	.	.	.	0.046253383	0.03794	T	.	.	.	.	.	.	.	0.171220215726	0.16700	0.09986113839688579	0.09917	.	.	.	.	.	0.046807	0.27536	T	-0.509642	0.00504	T	-0.969842	0.00206	T	.	.	.	0.778122	0.41194	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09578	B	.	.	0.433587	0.08038	4.760	0.448504638031887	0.03478	0.00520	0.02423	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0904122587264975	0.16108	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	0.395000	0.20576	-0.349000	0.09758	0.484000	0.22197	0.004000	0.16614	0.000000	0.08366	0.004000	0.06068	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	272.33	18	chr7	73553630	.	G	A	272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.78;DP=317;ExcessHet=0;FS=2.447;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=0.393;SOR=1.609	GT:AD:DP:GQ:PL	0/1:7,8:15:99:286,0,157	18	0	1	0
chr7	73597691	73597691	G	A	exonic	MLXIPL	.	nonsynonymous SNV	MLXIPL:NM_032951:exon9:c.C1094T:p.P365L,MLXIPL:NM_032952:exon9:c.C1094T:p.P365L,MLXIPL:NM_032953:exon9:c.C1094T:p.P365L,MLXIPL:NM_032954:exon9:c.C1094T:p.P365L	.	374	1147	1	0	0	1	0.00043573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0160186058118	.	0.000599042	6.109e-05	0	9.094e-05	0	0	0	0	0.0006	5.82e-05	9	154602	rs535101728	2.228e-05	3.762e-05	9.569e-06	3.59e-05	0.0004	1.526e-05	1.307e-05	0.0002	0.0002	0	0.0001	5.946e-05	0	0	0.0002	3.017e-06	8.057e-05	0.0004	5.921e-05	5.905e-05	3.861e-05	8.075e-05	0.0015	3.081e-05	2.212e-05	0.0007	0.0005	2.414e-05	0	0	0	0	0	0	1.472e-05	0	0.0015	0.007	0.91255	D	0.133	0.92824	T	0.015	0.17086	B	0.006	0.12133	B	0.317352	0.14330	U	0.649426	0.685236	0.33273	D	1.66	0.42513	L	2.41	0.25996	T	-4.13	0.75139	D	0.23	0.26596	-0.9902	0.32551	T	0.061	0.25455	T	10	0.034884393	0.01713	T	0.016019	0.37066	T	0.080	0.23350	.	.	0.0934897674506	0.08844	0.3127900300354524	0.31192	0.316814177364	0.33935	0.378973960876	0.22111	T	0.33176	0.70180	T	-0.454394	0.01064	T	-0.524039	0.19885	T	0.410446614027023	0.29335	T	0.835916	0.52334	T	0.16982426	0.37521	0.11904406	0.28735	0.16982426	0.37520	0.11904406	0.28734	-3.919	0.23968	T	.	.	0.091	0.13221	B	.;.;.;.;.;.	.;.;.;.;.;.	3.271102	0.44781	22.0	0.9920577519740913	0.55412	0.66620	0.33141	D	AEFDBCI	0.302096	0.41044	N	-0.0640506278342064	0.38976	2.291265	0.039093156353445	0.41547	2.497963	0.673923769066436	0.22405	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.31	3.41	0.38145	4.636000	0.61037	11.583000	0.93355	0.479000	0.22080	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.2271:0.0:0.7728:0.0	5.837	0.17868	900	0.24599	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1332.33	37	chr7	73597691	.	G	A	1332.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.744;DP=867;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=1.38;SOR=0.773	GT:AD:DP:GQ:PL	0/1:54,52:106:99:1346,0,1418	18	0	1	0
chr7	90277073	90277073	G	C	exonic	CFAP69	.	nonsynonymous SNV	CFAP69:NM_001039706:exon10:c.G985C:p.E329Q,CFAP69:NM_001160138:exon10:c.G931C:p.E311Q,CFAP69:NM_001363438:exon10:c.G985C:p.E329Q	.	1092	428	2	0	0	2	0.002331	0.9999	0.974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0299966657819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.113e-07	6.841e-07	0	1.434e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.726e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.008	0.67890	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.74	0.50459	T	-1.93	0.45404	N	0.729	0.73015	-0.4946	0.68843	T	0.325	0.69376	T	9	0.71325606	0.73181	D	0.029997	0.52399	D	0.157	0.40909	0.315	0.29096	0.604632981478	0.60146	0.33400020485790866	0.33313	0.394287068482	0.40586	.	.	.	0.091573	0.38824	T	0.108223	0.65166	D	-0.0823214	0.64733	T	0.980494856834412	0.73390	D	0.871313	0.57716	D	0.5528909	0.70116	0.56103694	0.74601	0.5528909	0.70117	0.56103694	0.74602	-5.648	0.43658	T	.	.	0.198	0.46688	B	.;.	.;.	5.169149	0.86639	29.0	0.99769890521190241	0.85834	0.99149	0.91949	D	AEFI	0.908533	0.86396	D	0.903263687288621	0.91917	11.13465	0.874784964568456	0.94376	12.71365	0.999999998628383	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.5	5.5	0.81386	7.792000	0.84405	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.569	0.91081	709	0.56835	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	775.33	21	chr7	90277073	.	G	C	775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.185;DP=588;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=-1.111;SOR=0.636	GT:AD:DP:GQ:PL	0/1:11,27:38:99:789,0,299	18	0	1	0
chr7	92131845	92131845	T	C	exonic	CYP51A1	.	nonsynonymous SNV	CYP51A1:NM_000786:exon2:c.A220G:p.I74V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0187774552616	0.0003	0.000399361	0.0001	0.0011	0	0	0	6.036e-05	0	6.068e-05	0.0001229	19	154602	rs148197561	6.354e-05	6.567e-05	5.77e-05	6.944e-05	0.0009	5.278e-05	4.892e-05	0.0007	0.0006	0.0009	0.0001	0	0	0	0.0005	3.813e-05	0.0001	2.362e-05	0.0003	0.0003	0.0003	0.0003	0.0011	0.0003	0.0002	0.0009	0.0008	0.0011	0	0	0	0.0002	0	0	2.942e-05	0	0	0.253	0.16958	T	0.286	0.92824	T	.	.	.	.	.	.	0.000189	0.48115	N	0.228808	0.99879	0.81001	D	.	.	.	-0.38	0.69027	T	-0.81	0.22944	N	0.196	0.21580	-0.9614	0.38916	T	0.185	0.53496	T	10	0.033731192	0.01557	T	0.018777	0.40954	T	0.085	0.24743	.	.	0.566480848757	0.56312	0.5588104145265905	0.55808	0.160590255575	0.18125	0.414376616478	0.27062	T	0.014055	0.12038	T	-0.404747	0.02154	T	-0.360952	0.37943	T	0.0205178516780672	0.00751	T	0.80112	0.45479	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.16099	B	.;.;.	.;.;.	1.167170	0.15569	11.94	0.95915005436060641	0.28169	0.87595	0.47186	D	AEFBI	0.187263	0.31456	N	-0.419583011349734	0.24783	1.340629	-0.322753193083032	0.27365	1.517963	0.999713457621808	0.42101	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.651492	0.60203	0	.	.	5.22	0.016	0.13429	1.460000	0.34855	-0.799000	0.07382	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.980000	0.58198	0.0:0.2699:0.0:0.7301	9.565	0.38556	270	0.89404	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	235.33	35	chr7	92131845	.	T	C	235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.898;DP=687;ExcessHet=0;FS=5.402;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.92;ReadPosRankSum=-0.288;SOR=0.76	GT:AD:DP:GQ:PL	0/1:22,12:34:99:249,0,592	18	0	1	0
chr7	92577129	92577129	T	C	exonic	FAM133B	.	nonsynonymous SNV	FAM133B:NM_001288584:exon7:c.A409G:p.M137V,FAM133B:NM_152789:exon7:c.A439G:p.M147V,FAM133B:NM_001040057:exon8:c.A409G:p.M137V	.	1154	367	1	0	0	1	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00823634032413	.	0.00199681	0.0019	0.0006	0.0024	0	0	0.0010	0.0085	0.0034	0.000608	94	154602	rs548380070	0.0009	0.0009	0.0008	0.0010	0.0342	0.0008	0.0008	0.0301	0.0285	0.0009	0.0018	0.0015	0	0	0.0342	0.0005	0.0018	0.0030	0.0009	0.0009	0.0009	0.0010	0.0035	0.0008	0.0007	0.0025	0.0022	0.0002	0	0.0032	0.0006	0	0	0.0204	0.0007	0.0038	0.0035	0.456	0.08943	T	0.261	0.28391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	1.0	0.41392	T	-0.51	0.46673	N	0.106	0.09207	-1.0259	0.21788	T	0.060	0.25127	T	9	0.004259348	0.00085	T	0.008236	0.21827	T	0.061	0.17616	.	.	0.0666544352282	0.05500	0.014799510401165932	0.01436	0.241242938755	0.26650	0.237422019243	0.02563	T	0.012608	0.18845	T	-0.639195	0.00084	T	-0.694301	0.06143	T	0.00745947396083215	0.00086	T	0.0982902	0.10549	T	0.042330205	0.06401	0.054670334	0.09447	0.042330205	0.06400	0.054670334	0.09447	-1.539	0.01846	T	.	.	0.054	0.00806	B	.;.;.;.	.;.;.;.	0.623002	0.09915	6.673	0.29699419979630881	0.01588	0.12021	0.17010	N	AEFBI	0.050401	0.08804	N	-1.56514191267039	0.01448	0.06318194	-1.60497189534714	0.01625	0.07375458	0.999919329735427	0.45857	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.4	-6.41	0.01766	0.401000	0.20673	-0.240000	0.10600	-1.528000	0.00996	0.312000	0.25432	0.000000	0.08366	0.526000	0.29613	0.103:0.4573:0.1056:0.3341	5.563	0.16441	800	0.44535	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.018900	0.025773	0.027523	0.041045	0.000000	0.009434	0.000000	0.000000	0.05263	529.83	17	chr7	92577129	.	T	C	529.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.099;DP=510;ExcessHet=0.119;FS=1.402;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=0.121;SOR=1.14	GT:AD:DP:GQ:PL	0/1:4,12:16:99:320,0,115	17	0	2	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2467.21	234	chr7	93102964	.	C	G	2467.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.872;DP=2943;ExcessHet=11.1788;FS=134.431;InbreedingCoeff=-0.4896;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.682;SOR=12.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,40:184:99:0|1:93102964_C_G:332,0,5155:93102964	7	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	2997.96	237	chr7	93102965	.	C	G	2997.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-5.417;DP=3257;ExcessHet=17.0548;FS=143.104;InbreedingCoeff=-0.6131;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.833;SOR=12.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,40:184:99:0|1:93102964_C_G:332,0,5155:93102964	5	0	14	0
chr7	99607679	99607679	G	A	exonic	TMEM225B	.	nonsynonymous SNV	TMEM225B:NM_001195541:exon5:c.G362A:p.C121Y,TMEM225B:NM_001195542:exon5:c.G362A:p.C121Y,TMEM225B:NM_001195543:exon5:c.G362A:p.C121Y	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.891e-06	2.736e-06	1.427e-06	4.395e-06	1.263e-05	6.8e-07	4.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.854e-06	1.727e-05	1.263e-05	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24603784	0.41862	T	.	.	.	.	.	.	.	.	.	0.4769676832104622	0.47616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.571443	0.20372	T	0.25102925	0.48108	0.4850096	0.70190	0.25102925	0.48108	0.4850096	0.70191	-8.115	0.61852	D	.	.	0.775	0.76161	P	.;.	.;.	3.278873	0.44915	22.0	0.85873812496627833	0.16166	0.07716	0.13718	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.952379724726287	0.28012	0.080785	0.02172	0	0.084543	0.02171	0	0.121075	0.03231	0	0.10565	0.03146	0	0.0581383	0.13913	3.5	0.568	0.16518	1.481000	0.35083	5.879000	0.50621	0.676000	0.76740	0.620000	0.27914	1.000000	0.68203	0.810000	0.38174	0.1153:0.4016:0.4831:0.0	5.486	0.16042	146	0.94180	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	903.33	35	chr7	99607679	.	G	A	903.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.818;DP=690;ExcessHet=0;FS=10.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-1.617;SOR=0.127	GT:AD:DP:GQ:PL	0/1:29,36:65:99:917,0,938	18	0	1	0
chr7	99769769	99769769	C	G	exonic	CYP3A4	.	nonsynonymous SNV	CYP3A4:NM_001202855:exon6:c.G520C:p.D174H,CYP3A4:NM_017460:exon6:c.G520C:p.D174H	.	427	1090	5	0	0	5	0.00228833	0	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0245461703374	0.0032	0.00179712	0.0017	0.0017	0.0003	0.0001	0.0006	0.0024	0.0011	0.0012	0.0018434	285	154602	rs4986908	0.0040	0.0040	0.0042	0.0038	0.0048	0.0039	0.0039	0.0047	0.0047	0.0013	0.0009	3.828e-05	0	0.0005	0.0007	0.0048	0.0035	0.0014	0.0024	0.0024	0.0028	0.0019	0.0040	0.0022	0.0021	0.0036	0.0034	0.0014	0.0011	0.0009	0	0.0002	0.0007	0	0.0040	0.0014	0.0008	0.079	0.33753	T	0.043	0.49942	D	0.008	0.14655	B	0.04	0.23831	B	0.037999	0.24336	N	0.485181	0.999855	0.81001	D	3.415	0.91848	M	-0.42	0.69536	T	-3.84	0.72240	D	0.332	0.37301	-0.6619	0.62192	T	0.246	0.61553	T	10	0.013969451	0.00295	T	0.024546	0.47537	T	0.152	0.39956	.	.	0.811776346281	0.81000	.	.	0.107106922556	0.12097	0.424553632736	0.28463	T	0.48166	0.81013	T	-0.413822	0.01875	T	-0.3668	0.37263	T	0.0756701521703145	0.09425	T	0.433757	0.11839	T	0.33092234	0.55547	0.19783507	0.43585	0.33092234	0.55547	0.19783507	0.43584	-6.797	0.52537	T	.	.	0.217	0.44732	B	.	.	2.018796	0.25655	16.84	0.92861878889067839	0.22404	0.93106	0.57343	D	AEFGBI	0.709109	0.66330	D	-0.224980884461871	0.32111	1.807505	-0.220982301351927	0.30785	1.736357	2.86145777382798E-5	0.03498	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.6	2.77	0.31614	1.054000	0.30064	-3.226000	0.02955	-0.231000	0.07715	1.000000	0.71638	0.000000	0.08366	0.086000	0.17578	0.0:0.6922:0.0:0.3078	6.648	0.22138	132	0.94697	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2537.33	37	chr7	99769769	.	C	G	2537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.52;DP=858;ExcessHet=0;FS=3.401;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.18;MQRankSum=-6.968;QD=12.38;ReadPosRankSum=0.538;SOR=0.968	GT:AD:DP:GQ:PL	0/1:112,93:205:99:2551,0,2740	18	0	1	0
chr7	99971946	99971946	G	A	exonic	AZGP1	.	nonsynonymous SNV	AZGP1:NM_001185:exon2:c.C137T:p.A46V	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0113832099142	7.7e-05	.	0.0001	0	8.639e-05	0.0001	0	5.999e-05	0	0.0004	8.41e-05	13	154602	rs142669146	8.619e-05	8.619e-05	4.901e-05	0.0001	0.0008	7.353e-05	6.903e-05	0.0007	0.0006	0	0	0	7.557e-05	5.616e-05	0	3.957e-05	6.623e-05	0.0008	6.573e-05	6.564e-05	2.573e-05	0.0001	0.0010	3.517e-05	2.617e-05	0.0004	0.0003	4.816e-05	0	0	0	0	9.438e-05	0	2.943e-05	0	0.0010	0.002	0.72154	D	0.005	0.72224	D	0.076	0.24253	B	0.011	0.15521	B	0.056538	0.02086	U	2.531660	1	0.08975	N	0.49	0.13296	N	-2.46	0.88924	D	-1.36	0.33798	N	0.113	0.21710	-1.0171	0.24657	T	0.047	0.20195	T	10	0.067263216	0.09345	T	0.011383	0.28946	T	0.216	0.50959	.	.	0.448099371145	0.44430	0.3521079997233675	0.35124	0.113506826482	0.12814	0.191668853164	0.00256	T	0.078283	0.35856	T	-0.302212	0.08453	T	-0.288666	0.45911	T	0.0199216742305377	0.00693	T	0.40106	0.10202	T	0.3076359	0.53581	0.121673144	0.29356	0.3076359	0.53581	0.121673144	0.29355	-5.14	0.38326	T	.	.	0.115	0.28406	B	.;.	.;.	0.212018	0.05954	2.395	0.80565273977518492	0.13263	0.00259	0.01419	N	AEFBI	0.124560	0.24067	N	-1.52823401622028	0.01666	0.0728863	-1.72247933386782	0.01042	0.04673096	7.52847063635583E-4	0.07758	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	1.51	-3.02	0.05116	-0.582000	0.05907	-0.665000	0.07962	-0.301000	0.06190	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5104:0.1979:0.2917	4.349	0.10583	156	0.93906	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1116.33	43	chr7	99971946	.	G	A	1116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.902;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-1.503;SOR=0.682	GT:AD:DP:GQ:PL	0/1:37,44:81:99:1130,0,1023	18	0	1	0
chr7	100029881	100029881	C	G	exonic	ZKSCAN1	.	nonsynonymous SNV	ZKSCAN1:NM_001346579:exon4:c.C601G:p.P201A,ZKSCAN1:NM_003439:exon4:c.C601G:p.P201A,ZKSCAN1:NM_001346580:exon5:c.C493G:p.P165A,ZKSCAN1:NM_001346581:exon5:c.C601G:p.P201A,ZKSCAN1:NM_001287054:exon6:c.C493G:p.P165A	.	424	1052	44	2	0	48	0.0223048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	0.0059	0.00519169	0.0063	0.0009	0.0035	0	0.0011	0.0083	0.0077	0.0091	0.0062677	969	154602	rs148669042	0.0080	0.0080	0.0077	0.0083	0.0269	0.0079	0.0079	0.0234	0.0221	0.0011	0.0040	0.0220	5.038e-05	0.0011	0.0269	0.0082	0.0093	0.0121	0.0055	0.0055	0.0060	0.0050	0.0133	0.0052	0.0051	0.0107	0.0097	0.0012	0.0011	0.0038	0.0141	0.0002	0.0007	0.0442	0.0086	0.0076	0.0133	0.011	0.55530	D	0.145	0.35970	T	0.99	0.63424	D	0.824	0.59271	P	0.003763	0.34511	N	0.134244	0.93483	0.81001	D	2.14	0.59869	M	3.14	0.08194	T	-2.82	0.61129	D	0.386	0.42737	-1.0091	0.27198	T	0.016	0.06711	T	10	0.005372405	0.00118	T	.	.	.	0.112	0.31546	.	.	0.415459976574	0.41164	0.15639711510048188	0.15560	0.474146516114	0.46608	0.420085132122	0.27848	T	0.216012	0.57806	T	-0.535217	0.00358	T	-0.533617	0.18927	T	0.0379089392025617	0.03317	T	0.79512	0.43772	T	0.06449126	0.13687	0.07915261	0.17794	0.06449126	0.13687	0.07915261	0.17793	-7.57	0.58101	D	.	.	0.092	0.21315	B	.;.;.	.;.;.	3.067730	0.41219	21.3	0.99258197341911825	0.57121	0.63428	0.32086	D	AEFDBIJ	0.102707	0.20596	N	0.0266498543013345	0.43068	2.60718	0.00231240024793541	0.39823	2.367091	0.999999968925059	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	4.45	0.53365	0.767000	0.26238	2.758000	0.34584	0.599000	0.40250	0.244000	0.24789	1.000000	0.68203	0.043000	0.14563	0.0:0.9107:0.0:0.0893	11.028	0.46973	121	0.95159	.;.;.	.	.	.	.	rs148669042	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023666	0.010101	0.024457	0.032164	0.000000	0.034483	0.021341	0.022727	0.02632	1369.33	34	chr7	100029881	.	C	G	1369.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.13;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=1.88;SOR=0.625	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1383,0,1407	18	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	18116.3	121	chr7	100175805	.	G	C	18116.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.889;DP=2073;ExcessHet=38.2876;FS=367.033;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.937;SOR=13.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,22:89:99:0|1:100175805_G_C:505,0,2664:100175805	1	0	18	0
chr7	100220255	100220255	C	T	exonic	PVRIG	.	nonsynonymous SNV	PVRIG:NM_024070:exon3:c.C260T:p.T87M	.	419	1058	42	3	0	48	0.0221811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0056	0.00539137	0.0118	0.0024	0.0084	0	0.0065	0.0159	0.0040	0.0115	0.0050905	787	154602	rs141119008	0.0082	0.0081	0.0079	0.0085	0.0206	0.0081	0.0080	0.0174	0.0162	0.0012	0.0038	0.0220	5.337e-05	0.0012	0.0206	0.0084	0.0097	0.0126	0.0054	0.0054	0.0059	0.0048	0.0130	0.0051	0.0050	0.0105	0.0095	0.0011	0.0011	0.0033	0.0141	0.0002	0.0007	0.0408	0.0085	0.0071	0.0130	0.02	0.49613	D	0.072	0.43344	T	0.423	0.35444	B	0.131	0.32951	B	.	.	.	.	0.999992	0.08975	N	0.345	0.11182	N	0.86	0.46777	T	-1.6	0.38540	N	0.186	0.20262	-1.0587	0.12083	T	0.038	0.16376	T	9	0.0037819445	0.00071	T	.	.	.	0.024	0.04979	.	.	0.126345400529	0.12197	0.4692787638282187	0.46846	0.127832058936	0.14418	0.452407717705	0.32272	T	0.007966	0.07338	T	-0.617701	0.00114	T	-0.649673	0.08977	T	0.0105413282560264	0.00146	T	0.276672	0.04749	T	0.026393538	0.01691	0.061903115	0.12027	0.026393538	0.01691	0.061903115	0.12027	-6.774	0.52365	T	.	.	0.113	0.22318	B	.	.	-0.969443	0.00816	0.027	0.87147751602030721	0.17021	0.02800	0.07520	N	AEFDBCIJ	0.029109	0.02687	N	-1.63495431186654	0.01100	0.04775162	-1.77743499817207	0.00834	0.03725871	0.99999982209636	0.74766	0.660377	0.49826	0	0.672317	0.65289	0	0.696353	0.63694	0	0.508809	0.08732	0	.	.	2.78	-5.57	0.02321	-4.778000	0.00217	-3.665000	0.02620	-1.816000	0.00606	0.000000	0.06391	0.000000	0.08366	0.205000	0.22041	0.3123:0.3941:0.162:0.1317	1.981	0.03217	290	0.88477	.	.	.	.	.	rs141119008	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025484	0.010417	0.025886	0.032353	0.000000	0.034483	0.028302	0.019084	0.02632	1132.33	39	chr7	100220255	.	C	T	1132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=843;ExcessHet=0;FS=1.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=1.51;SOR=0.494	GT:AD:DP:GQ:PL	0/1:43,42:85:99:1146,0,1040	18	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	7629.63	110	chr7	100773851	.	A	*	7629.63	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.304;DP=2087;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.752;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,97:97:99:1|1:100773849_CCAT_C:4365,292,0:100773849	3	9	7	0
chr7	100787956	100787956	G	0	exonic	ZAN	.	.	.	.	0	48	9	0	169	178	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	1912.83	137	chr7	100787956	.	G	*	1912.83	.	AC=26;AF=0.684;AN=38;BaseQRankSum=0.734;DP=2414;ExcessHet=2.8258;FS=4.34;InbreedingCoeff=-0.1515;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-1.014;SOR=0.992	GT:AD:DP:GQ:PL	1/1:0,121:121:99:5422,368,0	2	9	8	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7294.67	944	chr7	100952945	.	C	*	7294.67	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.282;DP=12658;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=14;MLEAF=0.368;MQ=57.98;MQRankSum=-8.296;QD=0.58;ReadPosRankSum=2.64;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:618,167:937:99:0|1:100952942_T_G:5152,0,25447:100952942	5	0	14	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	1350.84	756	chr7	100953158	.	G	*	1350.84	.	AC=17;AF=0.447;AN=38;BaseQRankSum=3.94;DP=10155;ExcessHet=48.2876;FS=12.382;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.51;MQRankSum=-16.03;QD=0.14;ReadPosRankSum=0.292;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:371,121:531:99:.:.:3964,0,15214:.	2	0	17	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3612.6	563	chr7	100953225	.	G	*	3612.6	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.03;DP=7885;ExcessHet=20.8569;FS=1.9;InbreedingCoeff=-0.6525;MLEAC=4;MLEAF=0.105;MQ=58.04;MQRankSum=-18.59;QD=0.58;ReadPosRankSum=-5.535;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:375,32:439:31:0|1:100953222_C_T:217,0,15604:100953222	14	0	5	0
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	98027.7	868	chr7	100953371	.	C	*	98027.7	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.941;DP=12379;ExcessHet=38.2876;FS=7.032;InbreedingCoeff=-0.9;MLEAC=3;MLEAF=0.079;MQ=57.43;MQRankSum=-13.36;QD=9.48;ReadPosRankSum=0.156;SOR=1.192	GT:AD:DP:GQ:PL	0/1:216,199:677:99:7623,0,8375	16	0	3	0
chr7	100955762	100955762	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C3983A:p.T1328N	.	896	620	5	1	0	7	0.00561347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214958271	5.682e-05	0.0008	5.395e-05	5.961e-05	0.0004	3.408e-05	2.801e-05	6.753e-05	2.83e-05	0.0001	0.0002	0	0	0	0	4.124e-05	0.0002	0.0004	0.0001	0.0020	8.197e-05	0.0001	0.0003	5.702e-05	4.262e-05	8.522e-05	4.5e-05	0.0001	0	0.0003	0	0	0	0	6.966e-05	0.0008	0	.	.	.	0.261	0.22962	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05929	.	.	.	.	.	.	.	0.059814572	0.07250	T	.	.	.	.	.	.	.	.	.	0.014401527505176325	0.01397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-7.856	0.60085	D	.	.	0.136	0.29588	B	.;.	.;.	-0.671401	0.01388	0.080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.660000	0.00449	-9.811000	0.00774	-0.395000	0.05324	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	1979.47	467	chr7	100955762	.	C	A	1979.47	.	AC=2;AF=0.111;AN=18;BaseQRankSum=5.71;DP=10134;ExcessHet=0.119;FS=8.212;InbreedingCoeff=-0.2258;MLEAC=3;MLEAF=0.167;MQ=59.21;MQRankSum=-18.51;QD=1.79;ReadPosRankSum=-2.775;SOR=1.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:519,53:572:99:0|1:100955740_G_A:663,0,21587:100955740	7	0	2	10
chr7	100955779	100955779	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4000G:p.P1334A	.	1102	405	8	1	6	16	0.0121951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313584776	0.0003	0.0013	0.0001	0.0005	0.0020	0.0002	0.0002	0.0002	0.0001	0.0004	0.0007	0	0	0.0007	0.0020	0.0003	0.0004	0	0.0007	0.0059	0.0005	0.0008	0.0013	0.0005	0.0004	0.0006	0.0004	0.0008	0.0032	0.0013	0.0008	0	0.0009	0	0.0004	0.0014	0	.	.	.	0.336	0.18449	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.031654388	0.01303	T	.	.	.	.	.	.	.	.	.	0.010190083516641869	0.00981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248875	0.04334	T	.	.	.	.	.	.	.	.	-2.749	0.07724	T	.	.	0.066	0.02065	B	.;.	.;.	-0.602833	0.01564	0.103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.412000	0.02582	-2.564000	0.03604	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3321.95	467	chr7	100955779	.	C	G	3321.95	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.098;DP=11451;ExcessHet=0.119;FS=12.89;InbreedingCoeff=-0.2881;MLEAC=4;MLEAF=0.333;MQ=58.94;MQRankSum=-20.51;QD=2.81;ReadPosRankSum=1.51;SOR=1.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:533,60:593:99:0|1:100955740_G_A:915,0,22200:100955740	4	0	2	13
chr7	100955783	100955783	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4004A:p.T1335K	.	931	584	6	1	0	8	0.00680272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353275951	8.032e-05	0.0016	5.446e-05	0.0001	0.0007	5.355e-05	4.472e-05	3.205e-05	2.39e-05	0.0001	0.0001	0	0	0.0003	0.0007	5.953e-05	5.806e-05	0.0002	0.0008	0.0049	0.0007	0.0009	0.0014	0.0006	0.0005	0.0008	0.0006	0.0010	0.0026	0.0014	0.0007	0	0.0009	0	0.0005	0.0012	0.0005	.	.	.	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.12055	.	.	.	.	.	.	.	0.047530502	0.04083	T	.	.	.	.	.	.	.	.	.	0.027707913494658065	0.02720	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214079	0.02639	T	.	.	.	.	.	.	.	.	-4.934	0.36115	T	.	.	0.159	0.35119	B	.;.	.;.	0.086628	0.04912	1.492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.529000	0.02327	-4.631000	0.02060	-2.911000	0.00159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3705.95	467	chr7	100955783	.	C	A	3705.95	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.64;DP=11803;ExcessHet=0.1259;FS=10.494;InbreedingCoeff=-0.2881;MLEAC=4;MLEAF=0.333;MQ=58.84;MQRankSum=-21.05;QD=3.08;ReadPosRankSum=2.26;SOR=1.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:540,61:601:99:0|1:100955740_G_A:936,0,22491:100955740	4	0	2	13
chr7	100994108	100994108	A	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A3545G:p.H1182R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.028741821379	.	.	6.984e-05	0.0007	0	0	0	0	0	0	0.0011772	182	154602	rs201218466	0.0006	0.0019	0.0006	0.0006	0.0081	0.0005	0.0005	0.0072	0.0068	0.0026	0.0005	0	0.0081	0.0004	0	0.0003	0.0004	0.0004	0.0004	0.0012	0.0003	0.0005	0.0033	0.0003	0.0003	0.0017	0.0013	0.0005	0	0.0005	0.0004	0.0033	0.0002	0	0.0002	0	0	1.0	0.00964	T	0.364	0.16766	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.24	0.00794	N	2.74	0.11730	T	-0.31	0.12099	N	0.038	0.01203	-0.9651	0.38191	T	0.012	0.04558	T	7	0.0061240494	0.00138	T	0.028742	0.51367	D	0.074	0.21613	0.219	0.14078	0.0138822411134	0.00435	4.259794090535132E-4	0.00038	.	.	0.474911868572	0.35357	T	0.003596	0.03000	T	-0.792253	0.00009	T	-0.908181	0.00447	T	0.0202716117844359	0.00727	T	0.157184	0.01425	T	0.02673691	0.01771	0.02661479	0.00760	0.02673691	0.01770	0.02661479	0.00760	-2.191	0.03997	T	.	.	0.046	0.00094	B	.;.	.;.	-1.117851	0.00619	0.016	0.34479452294690738	0.02111	0.00019	0.00214	N	AEFI	0.017705	0.00483	N	-1.5826508943659	0.01354	0.05897784	-1.76622058510419	0.00873	0.03904465	9.90481565889773E-5	0.04910	0.487112	0.14033	0	0.514364	0.08380	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.713	-1.43	0.08418	-4.395000	0.00276	-20.000000	0.00162	-4.169000	0.00039	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2415:0.2152:0.2566:0.2868	0.093	0.00038	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.03571	79.58	38	chr7	100994108	.	A	G	79.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=2.29;DP=888;ExcessHet=0;FS=52.728;InbreedingCoeff=-0.037;MLEAC=1;MLEAF=0.036;MQ=54.99;MQRankSum=-8.996;QD=0.43;ReadPosRankSum=-0.234;SOR=6.088	GT:AD:DP:GQ:PL	0/1:164,21:185:91:91,0,4636	13	0	1	5
chr7	101036482	101036482	G	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G5066C:p.R1689T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00100560631506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.856e-07	6.844e-07	0	1.378e-06	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.11227	T	.	.	.	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.79	0.03809	T	0.8	0.01866	N	0.071	0.04426	-0.9151	0.46207	T	0.006	0.01981	T	8	0.054650098	0.05852	T	0.001006	0.01073	T	0.008	0.00669	0.222	0.14518	0.0138822411134	0.00435	0.007970867541845285	0.00762	.	.	0.383622050285	0.22769	T	0.01747	0.14250	T	-0.364177	0.03899	T	-0.760891	0.03081	T	0.047299284054006	0.05019	T	0.322168	0.06550	T	0.065495774	0.14001	0.07293041	0.15790	0.065495774	0.14001	0.07293041	0.15790	-3.464	0.15931	T	.	.	0.071	0.03887	B	.	.	0.048768	0.04628	1.291	0.12522442460642408	0.00220	0.00353	0.01817	N	AEFBI	0.024304	0.01484	N	-1.8159173437212	0.00507	0.02183689	-1.88284214031458	0.00529	0.02346033	1.37980174073317E-4	0.05486	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.677812	0.66336	0	.	.	0.579	-1.16	0.09181	1.103000	0.30674	-2.916000	0.03233	-1.495000	0.01039	0.009000	0.18154	0.000000	0.08366	0.000000	0.00833	.	.	.	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	214.11	777	chr7	101036482	.	G	C	214.11	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-11.8;DP=9770;ExcessHet=0;FS=146.997;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=58.39;MQRankSum=-5.592;QD=0.38;ReadPosRankSum=1.2;SOR=9.811	GT:AD:DP:GQ:PL	0/1:493,73:627:99:227,0,13962	16	0	1	2
chr7	101036967	101036967	C	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5551A:p.P1851T	.	413	1097	5	3	4	15	0.00498866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0143	0.0984425	0.0331	0.0531	0.0470	0.119	0.0235	0.0020	0.0404	0.1047	0.0196711	512	26028	rs146323653	0.0029	0.0038	0.0028	0.0030	0.0255	0.0028	0.0028	0.0246	0.0242	0.0238	0.0042	0	0.0174	0.0009	0.0028	0.0002	0.0087	0.0255	0.0013	0.0018	0.0013	0.0013	0.0067	0.0012	0.0011	0.0046	0.0039	0.0030	0	0.0012	0	0.0052	0.0011	0	7.383e-05	0.0020	0.0067	0.47	0.08483	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.215	0.00119	N	4.01	0.03208	T	-0.17	0.09627	N	0.013	0.00142	-0.9539	0.40292	T	0.000	0.00011	T	9	0.001913935	0.00026	T	.	.	.	0.038	0.09825	.	.	.	.	0.008167875960877372	0.00781	.	.	0.307297408581	0.11498	T	0.017686	0.14383	T	-0.848023	0.00003	T	-0.917049	0.00394	T	0.00526121026644924	0.00057	T	0.337066	0.07215	T	0.024168309	0.01222	0.036329627	0.03057	0.024168309	0.01222	0.036329627	0.03056	-5.758	0.44207	T	.	.	0.055	0.00368	B	.	.	-1.502060	0.00293	0.005	0.3020599618988527	0.01640	0.00015	0.00188	N	AEFGBI	0.023075	0.01237	N	-2.18235591645393	0.00084	0.003590284	-2.25569835555309	0.00084	0.003681959	0.00982018823274634	0.11918	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-3.557000	0.00482	-20.000000	0.00162	-1.599000	0.00895	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3143:0.4394:0.0:0.2462	2.898	0.05348	830	0.39242	.	.	.	.	.	rs146323653	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	0.028013	0.015152	0.012228	0.032787	0.000000	0.008621	0.009146	0.090909	0.05556	9252.58	901	chr7	101036967	.	C	A	9252.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=4.16;DP=10975;ExcessHet=0.119;FS=2.026;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=54.62;MQRankSum=0.386;QD=8.28;ReadPosRankSum=0.681;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:394,148:542:99:0|1:101036967_C_A:4825,0,15809:101036967	16	0	2	1
chr7	101036975	101036975	A	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5559C:p.E1853D	.	416	1094	5	3	4	15	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	.	0.0083	0.0972444	0.0329	0.0527	0.0470	0.119	0.0235	0.0020	0.0402	0.1030	0.0189796	494	26028	rs148675022	0.0019	0.0037	0.0019	0.0020	0.0170	0.0019	0.0018	0.0162	0.0159	0.0164	0.0022	0	0.0123	0.0004	0.0016	0.0001	0.0059	0.0170	0.0011	0.0018	0.0010	0.0011	0.0053	0.0009	0.0009	0.0034	0.0029	0.0024	0	0.0010	0	0.0046	0.0011	0	7.372e-05	0.0015	0.0053	0.279	0.15561	T	.	.	.	0.023	0.18885	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	4.25	0.02564	T	-0.19	0.09965	N	0.014	0.00160	-0.8966	0.48331	T	0.003	0.00800	T	9	0.0023345947	0.00034	T	.	.	.	0.005	0.00259	0.114	0.02306	.	.	0.003600133997673742	0.00337	.	.	0.318828165531	0.13244	T	0.018853	0.15125	T	-0.797276	0.00008	T	-0.864555	0.00796	T	0.0040418192727935	0.00043	T	0.288571	0.05217	T	0.048784774	0.08559	0.0455507	0.06155	0.048784774	0.08559	0.0455507	0.06154	-7.579	0.58164	D	.	.	0.187	0.40344	B	.	.	-0.266440	0.02767	0.373	0.15931405405746954	0.00408	0.00495	0.02340	N	AEFGBI	0.061181	0.11677	N	-1.44277843029105	0.02274	0.1002479	-1.54095469140167	0.02039	0.0931966	6.31312032253946E-4	0.07505	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.13	0.09274	-2.775000	0.00847	-3.288000	0.02904	0.377000	0.20376	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.678:0.0:0.0:0.322	3.858	0.08490	830	0.39242	.	.	.	.	.	.	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	0.014799	0.010101	0.006793	0.016393	0.000000	0.000000	0.006098	0.049242	0.05556	8522.58	903	chr7	101036975	.	A	C	8522.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.819;DP=10898;ExcessHet=0.119;FS=2.082;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=54.42;MQRankSum=-0.338;QD=7.71;ReadPosRankSum=-0.363;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:401,138:539:99:0|1:101036967_C_A:4467,0,16362:101036967	16	0	2	1
chr7	101036980	101036980	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5564G:p.T1855S	.	415	1094	5	3	5	16	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	0.0974441	0.0326	0.0520	0.0470	0.1188	0.0235	0.0020	0.0402	0.1011	0.0189411	493	26028	rs141195508	0.0012	0.0036	0.0011	0.0012	0.0103	0.0011	0.0011	0.0097	0.0094	0.0091	0.0015	0	0.0088	0.0004	0.0011	7.293e-05	0.0033	0.0103	0.0009	0.0017	0.0009	0.0009	0.0050	0.0008	0.0007	0.0032	0.0027	0.0021	0	0.0010	0	0.0032	0.0007	0	5.897e-05	0.0010	0.0050	0.046	0.40573	D	.	.	.	0.886	0.48745	P	0.126	0.32692	B	.	.	.	.	1	0.08975	N	2.38	0.68558	M	4.34	0.02341	T	-0.26	0.11185	N	0.019	0.00279	-0.8695	0.50567	T	0.004	0.01400	T	9	0.002970755	0.00048	T	.	.	.	0.022	0.04323	0.118	0.02577	.	.	0.0033279495015064546	0.00310	.	.	0.313005208969	0.12361	T	0.016925	0.13896	T	-0.728087	0.00025	T	-0.777643	0.02526	T	0.0111646505528084	0.00163	T	0.273273	0.04638	T	0.028086957	0.02093	0.04039063	0.04356	0.028086957	0.02092	0.04039063	0.04355	-7.054	0.54427	T	.	.	0.125	0.26263	B	.	.	-0.481825	0.01927	0.162	0.18751851816912099	0.00603	0.01221	0.04330	N	AEFGBI	0.053237	0.09575	N	-1.00577024279366	0.08484	0.3979318	-1.18644816366495	0.06135	0.2943982	9.29109817510881E-4	0.08013	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-0.378	0.11875	-2.310000	0.01210	-3.435000	0.02789	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3073:0.6927:0.0:0.0	5.867	0.18031	830	0.39242	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	7513.58	903	chr7	101036980	.	C	G	7513.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=8.78;DP=10856;ExcessHet=0.119;FS=0.638;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=54.28;MQRankSum=-1.019;QD=6.94;ReadPosRankSum=-0.288;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:407,120:527:99:0|1:101036967_C_A:3814,0,16729:101036967	16	0	2	1
chr7	101036987	101036987	A	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5571G:p.I1857M	.	414	1096	5	3	4	15	0.00499319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.095647	0.0315	0.0482	0.0468	0.1181	0.0235	0.0020	0.0391	0.0959	0.0185185	482	26028	rs529733229	0.0004	0.0028	0.0003	0.0005	0.0049	0.0004	0.0004	0.0043	0.0041	0.0021	0.0005	0	0.0049	0.0003	0.0002	1.441e-05	0.0009	0.0040	0.0008	0.0016	0.0008	0.0008	0.0039	0.0007	0.0006	0.0024	0.0019	0.0018	0	0.0007	0	0.0032	0.0006	0	5.9e-05	0.0010	0.0039	0.498	0.07797	T	.	.	.	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	4.22	0.02640	T	-0.11	0.08653	N	0.007	0.00055	-0.9180	0.45824	T	0.004	0.01330	T	9	0.002025187	0.00029	T	.	.	.	0.017	0.02790	.	.	.	.	0.0045953391162681006	0.00432	.	.	0.289408802986	0.08836	T	0.017638	0.14358	T	-0.761262	0.00015	T	-0.839816	0.01101	T	0.00139843970367867	0.00014	T	0.256474	0.04006	T	0.033943307	0.03713	0.04277209	0.05172	0.033943307	0.03713	0.04277209	0.05172	-3.979	0.23488	T	.	.	0.075	0.05447	B	.	.	-1.288929	0.00448	0.009	0.16073283758156165	0.00417	0.00033	0.00296	N	AEFGBI	0.026552	0.02014	N	-1.81936807619775	0.00499	0.02149962	-1.87946331982856	0.00537	0.02382829	0.00107390509056506	0.08194	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-0.746	0.10535	-3.464000	0.00514	-20.000000	0.00162	-1.691000	0.00771	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5762:0.0:0.4238:0.0	4.446	0.11018	830	0.39242	.	.	.	.	.	.	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	0.001586	0.000000	0.001359	0.008197	0.000000	0.000000	0.000000	0.003788	0.05556	6256.58	903	chr7	101036987	.	A	G	6256.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=6.52;DP=10809;ExcessHet=0.119;FS=0.659;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=54.01;MQRankSum=-2.186;QD=6.03;ReadPosRankSum=-2.173;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:394,104:498:99:0|1:101036967_C_A:3181,0,16231:101036967	16	0	2	1
chr7	101036988	101036988	G	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G5572C:p.A1858P	.	419	1091	5	3	4	15	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.095647	0.0315	0.0482	0.0468	0.1180	0.0235	0.0020	0.0391	0.0957	0.0185569	483	26028	rs139009576	0.0004	0.0028	0.0003	0.0004	0.0045	0.0003	0.0003	0.0039	0.0037	0.0015	0.0004	0	0.0045	0.0002	0	9.906e-06	0.0007	0.0035	0.0008	0.0016	0.0007	0.0008	0.0039	0.0006	0.0006	0.0024	0.0019	0.0017	0	0.0006	0	0.0033	0.0006	0	5.92e-05	0.0010	0.0039	0.372	0.11478	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.95	0.00216	N	4.15	0.02815	T	0.05	0.06369	N	0.053	0.02462	-0.9360	0.43241	T	0.003	0.01059	T	9	0.0026809275	0.00041	T	.	.	.	0.026	0.05648	.	.	.	.	0.02903108957003057	0.02852	.	.	0.296740233898	0.09916	T	0.017693	0.14390	T	-0.711379	0.00031	T	-0.768163	0.02829	T	0.00329269740675991	0.00035	T	0.304969	0.05824	T	0.043084126	0.06653	0.050497707	0.07939	0.043084126	0.06652	0.050497707	0.07939	-2.712	0.07404	T	.	.	0.087	0.11027	B	.	.	-0.868193	0.00980	0.039	0.24002919280004392	0.01041	0.00011	0.00159	N	AEFGBI	0.017581	0.00471	N	-2.0766285698698	0.00144	0.006166915	-2.15095754879182	0.00144	0.006337654	0.0149628824962402	0.12659	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-3.812000	0.00405	-4.376000	0.02188	-2.974000	0.00147	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.241:0.3094:0.2397:0.2099	0.369	0.00350	830	0.39242	.	.	.	.	.	.	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	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05556	6229.58	903	chr7	101036988	.	G	C	6229.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=5.17;DP=10818;ExcessHet=0.119;FS=0.659;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=54.06;MQRankSum=-2.267;QD=5.96;ReadPosRankSum=-2.22;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:399,104:503:99:0|1:101036967_C_A:3166,0,16441:101036967	16	0	2	1
chr7	101037005	101037005	T	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.T5589G:p.S1863R	.	416	1094	5	3	4	15	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0007	.	0.0208	0.0334	0.0332	0.0858	0.0159	0.0015	0.0301	0.0546	7.68e-05	2	26028	rs144965214	0.0002	0.0007	0.0002	0.0003	0.0032	0.0002	0.0002	0.0027	0.0026	0.0004	0.0003	0	0.0032	0.0001	0	9e-07	0.0002	0.0021	0.0004	0.0011	0.0004	0.0003	0.0019	0.0003	0.0003	0.0009	0.0006	0.0009	0	0.0002	0	0.0016	0.0002	0	2.947e-05	0.0010	0.0019	0.37	0.11550	T	.	.	.	0.797	0.44809	P	0.321	0.41760	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	4.23	0.02616	T	-0.77	0.21429	N	0.024	0.00445	-0.8886	0.49055	T	0.005	0.01615	T	8	0.0044896007	0.00092	T	.	.	.	0.033	0.08068	0.194	0.10571	.	.	0.01233914984188236	0.01192	.	.	0.299895703793	0.10385	T	0.017757	0.14435	T	-0.682001	0.00047	T	-0.73945	0.03914	T	0.00939915424853505	0.00120	T	0.340266	0.07351	T	0.10370106	0.24512	0.1283763	0.30886	0.10370106	0.24512	0.1283763	0.30885	-7.069	0.54537	T	.	.	0.241	0.47524	B	.	.	0.527789	0.08965	5.746	0.33326692460308971	0.01979	0.01430	0.04814	N	AEFGBI	0.064454	0.12515	N	-1.02251595279122	0.08138	0.3805158	-1.20536102117136	0.05823	0.2785533	0.00121046594272654	0.08334	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.013000	0.13206	-6.532000	0.01373	0.335000	0.19678	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	3329.58	903	chr7	101037005	.	T	G	3329.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=6.24;DP=10752;ExcessHet=0.119;FS=3.8;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=53.78;MQRankSum=-5.007;QD=3.4;ReadPosRankSum=-4.706;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:395,69:464:99:0|1:101036967_C_A:1708,0,16378:101036967	16	0	2	1
chr7	101037014	101037014	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5598G:p.S1866R	.	415	1096	6	3	2	14	0.00544465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.0449281	0.0050	0.0090	0.0081	0.0244	0.0021	0.0004	0.0056	0.0112	0.008683	226	26028	rs201207919	0.0002	0.0007	0.0002	0.0002	0.0031	0.0002	0.0002	0.0026	0.0024	0.0003	0.0002	0	0.0031	7.959e-05	0	2.751e-06	8.734e-05	0.0020	0.0003	0.0011	0.0003	0.0003	0.0023	0.0002	0.0002	0.0010	0.0007	0.0008	0	0.0002	0	0.0006	0.0002	0	1.813e-05	0.0014	0.0023	0.007	0.59928	D	.	.	.	0.797	0.44809	P	0.093	0.30104	B	.	.	.	.	1	0.08975	N	2.295	0.65404	M	4.23	0.02616	T	-0.65	0.18877	N	0.038	0.01203	-0.9674	0.37733	T	0.004	0.01261	T	9	0.0030860305	0.00051	T	.	.	.	0.029	0.06676	0.264	0.20946	0.0297737177859	0.01360	0.005365800952421269	0.00507	.	.	0.329270333052	0.14824	T	0.017645	0.14358	T	-0.684915	0.00045	T	-0.747215	0.03595	T	0.0134149078318583	0.00243	T	0.412159	0.10706	T	0.078873836	0.17988	0.07059529	0.15018	0.078873836	0.17988	0.07059529	0.15018	-5.575	0.42563	T	.	.	0.343	0.56098	A	.	.	-0.584777	0.01613	0.110	0.092152076708719846	0.00089	0.00097	0.00633	N	AEFGBI	0.034789	0.04369	N	-2.08138097362421	0.00141	0.006020611	-2.26102061448563	0.00081	0.003577088	0.993921298330382	0.33413	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-4.764000	0.00219	-3.044000	0.03112	-1.910000	0.00516	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1985:0.2707:0.1984:0.3324	0.291	0.00241	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	2424.58	955	chr7	101037014	.	C	G	2424.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=4.9;DP=10804;ExcessHet=0.119;FS=2.868;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=53.62;MQRankSum=-6.634;QD=2.55;ReadPosRankSum=-6.374;SOR=1.125	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:385,57:442:99:0|1:101036967_C_A:1235,0,15974:101036967	16	0	2	1
chr7	101037015	101037015	A	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5599C:p.T1867P	.	417	942	154	0	9	163	0.0755643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	0.048123	0.0050	0.0087	0.0080	0.0242	0.0021	0.0004	0.0056	0.0112	0.0093745	244	26028	rs201970250	0.0002	0.0003	0.0001	0.0002	0.0029	0.0002	0.0002	0.0024	0.0023	0.0002	0.0002	0	0.0029	3.966e-05	0	0	8.722e-05	0.0020	0.0002	0.0006	0.0002	0.0002	0.0013	0.0001	0.0001	0.0005	0.0003	0.0005	0	0.0002	0	0	0.0002	0	1.594e-05	0	0.0013	0.229	0.18371	T	.	.	.	0.985	0.61118	D	0.429	0.45365	B	.	.	.	.	1	0.08975	N	2.455	0.71248	M	4.26	0.02538	T	-1.07	0.27876	N	0.128	0.12198	-0.9277	0.44473	T	0.007	0.02518	T	9	0.003565222	0.00064	T	.	.	.	0.088	0.25558	.	.	0.0611884634855	0.05136	0.002191109293456971	0.00203	.	.	0.351847529411	0.18193	T	0.016686	0.13743	T	-0.60438	0.00137	T	-0.631531	0.10299	T	0.0159473787907998	0.00378	T	0.261374	0.04213	T	0.15294392	0.34692	0.075604185	0.16662	0.15294392	0.34692	0.075604185	0.16661	-6.419	0.49657	T	.	.	0.120	0.24800	B	.	.	0.701578	0.10706	7.397	0.14541750727747688	0.00324	0.01581	0.05150	N	AEFGBI	0.143396	0.26609	N	-0.779157462639097	0.13853	0.6855809	-1.02874192314484	0.09156	0.453968	4.52875406325812E-4	0.07036	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.13	0.09274	0.592000	0.23685	-0.123000	0.11700	0.377000	0.20376	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.678:0.0:0.0:0.322	3.858	0.08490	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001586	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	9958.67	975	chr7	101037015	.	A	C	9958.67	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.153;DP=10927;ExcessHet=4.0268;FS=2.575;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.026;MQ=54.9;MQRankSum=-11.94;QD=1.83;ReadPosRankSum=1.7;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:388,57:445:99:0|1:101036967_C_A:1226,0,16054:101036967	18	0	1	0
chr7	101087787	101087787	G	A	exonic	TRIM56	.	nonsynonymous SNV	TRIM56:NM_030961:exon3:c.G475A:p.E159K	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	.	0.00319489	0.0022	0	0.0003	0	0	0	0	0.0160	0.0017141	265	154602	rs544312602	0.0009	0.0009	0.0005	0.0014	0.0150	0.0009	0.0009	0.0143	0.0140	2.992e-05	2.252e-05	0	0	2.037e-05	0.0005	2.522e-05	0.0006	0.0150	0.0005	0.0005	0.0003	0.0007	0.0141	0.0004	0.0003	0.0114	0.0104	2.405e-05	0	0	0	0	9.414e-05	0	1.47e-05	0	0.0141	0.456	0.11120	T	0.039	0.53788	D	0.982	0.60036	D	0.833	0.59784	P	0.000367	0.45194	D	0.000000	0.677885	0.33205	D	1.24	0.30952	L	0.94	0.43672	T	-0.85	0.23156	N	0.208	0.23125	-0.9607	0.39050	T	0.128	0.43605	T	10	0.006583363	0.00149	T	.	.	.	0.134	0.36365	0.509	0.60540	0.627281675597	0.62424	0.5868970590110585	0.58619	0.584107567837	0.54097	0.759843230247	0.75906	T	0.026185	0.19430	T	-0.448698	0.01150	T	-0.405624	0.32732	T	0.0545004114117736	0.06274	T	0.845015	0.52334	T	0.13506266	0.31359	0.1047704	0.25171	0.13506266	0.31359	0.1047704	0.25170	-6.076	0.46911	T	.	.	0.202	0.42635	B	.;.	.;.	3.917986	0.57180	23.8	0.99826944665335626	0.90939	0.59625	0.30967	D	AEFDBCI	0.180564	0.30787	N	0.170274365926628	0.49775	3.17421	0.167346684437956	0.48069	3.027865	0.999999958598592	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.549297	0.17558	0	.	.	3.99	3.99	0.45527	4.123000	0.57668	8.759000	0.78228	0.676000	0.76740	0.831000	0.30147	1.000000	0.68203	0.855000	0.40485	0.0:0.0:1.0:0.0	11.893	0.51922	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	781.33	36	chr7	101087787	.	G	A	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.01;DP=671;ExcessHet=0;FS=1.16;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.28;ReadPosRankSum=-0.76;SOR=0.444	GT:AD:DP:GQ:PL	0/1:19,29:48:99:795,0,562	18	0	1	0
chr7	101163119	101163139	GTGGCGCGAAGGCGGCAAGGC	-	exonic	VGF	.	nonframeshift deletion	VGF:NM_003378:exon2:c.1705_1725del:p.A569_H575del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.748e-05	0	9.205e-05	0	0	1.727e-05	0	0.0002	3.84e-05	1	26028	rs750790296	2.728e-05	2.805e-05	2.088e-05	3.376e-05	0.0004	2.043e-05	1.794e-05	0.0001	9.798e-05	3.369e-05	0	0	0	0	0.0004	1.274e-05	0.0001	0.0002	3.301e-05	3.286e-05	5.165e-05	1.351e-05	0.0002	1.265e-05	8.01e-06	1.176e-05	6.26e-06	0	0.0011	0	0	0	0	0	4.429e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1436.29	41	chr7	101163118	.	AGTGGCGCGAAGGCGGCAAGGC	A	1436.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.295;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.293;SOR=0.634	GT:AD:DP:GQ:PL	0/1:64,40:104:99:1450,0,2495	18	0	1	0
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D,LRRC17:NM_005824:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	635.49	33	chr7	102934282	.	G	C	635.49	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-5.875;DP=1880;ExcessHet=0.7564;FS=169.914;InbreedingCoeff=-0.1189;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.672;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,26:143:99:0|1:102934282_G_C:181,0,4181:102934282	15	0	4	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	1131.3	125	chr7	102934283	.	G	C	1131.3	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-5.038;DP=2763;ExcessHet=4.0268;FS=178.434;InbreedingCoeff=-0.28;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=0.387;SOR=11.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,26:143:99:0|1:102934282_G_C:181,0,4181:102934282	10	0	8	1
chr7	103661414	103661414	G	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon12:c.C1403A:p.T468N,RELN:NM_173054:exon12:c.C1403A:p.T468N	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4014307	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.275	0.0283263898227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.0	0.92824	D	0.981	0.90584	D	0.966	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.68	0.27184	T	-2.24	0.50175	N	0.777	0.78451	-0.9831	0.34281	T	0.123	0.42610	T	10	0.7704549	0.77040	D	0.028326	0.51021	D	0.275	0.59130	0.44	0.49484	0.320526991862	0.31653	0.7951697022479258	0.79469	0.402967477826	0.41245	0.723408579826	0.70544	T	0.187568	0.54121	T	-0.0781113	0.40020	T	-0.349978	0.39208	T	0.890162944793701	0.54095	D	0.915608	0.69895	D	0.26242894	0.49304	0.24866363	0.50422	0.26242894	0.49304	0.24866363	0.50421	-8.98	0.67568	D	0.5374114234502853	0.60748	0.643	0.70629	P	.;.;.	.;.;.	3.605137	0.50945	23.0	0.98812471983242511	0.46639	0.87653	0.47264	D	AEFBCI	0.947965	0.95908	D	0.517607389249996	0.68132	5.175197	0.497417738004897	0.67818	5.135285	0.999999999999992	0.74766	0.643511	0.44296	0	0.573888	0.26702	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	5.3	5.3	0.74745	7.684000	0.83402	8.710000	0.78133	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:0.0:1.0:0.0	18.938	0.92569	853	0.34956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	195.33	33	chr7	103661414	.	G	T	195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.346;DP=765;ExcessHet=0;FS=111.462;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=0.907;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,27:141:99:0|1:103661414_G_T:209,0,4057:103661414	18	0	1	0
chr7	103661416	103661416	G	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon12:c.C1401A:p.D467E,RELN:NM_173054:exon12:c.C1401A:p.D467E	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0249109346741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53900	D	0.007	0.69154	D	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	0.992908	0.41777	D	0.895	0.22405	L	1.69	0.27032	T	-1.72	0.40850	N	0.858	0.85449	-1.0883	0.05821	T	0.092	0.34983	T	10	0.79525125	0.79011	D	0.024911	0.47894	T	0.253	0.56294	0.646	0.78330	0.638632547783	0.63565	0.6743898116598963	0.67376	0.657864007045	0.58718	0.789610028267	0.80383	T	0.151882	0.49203	T	-0.00590738	0.50838	T	-0.246262	0.50184	T	0.764917850494385	0.44137	D	0.907909	0.67446	D	0.16260381	0.36347	0.13722478	0.32806	0.16260381	0.36347	0.13722478	0.32805	-5.201	0.38952	T	0.597255461181313	0.66417	0.521	0.65528	A	.;.;.	.;.;.	2.222445	0.28365	17.77	0.99386227872068578	0.62113	0.66393	0.33063	D	AEFBCI	0.708876	0.66315	D	-0.072127323130039	0.38618	2.264604	-0.118625604543663	0.34639	1.994826	0.99991372119339	0.45857	0.643511	0.44296	0	0.573888	0.26702	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	5.3	2.5	0.29355	2.299000	0.43271	1.009000	0.23318	-0.194000	0.09177	1.000000	0.71638	1.000000	0.68203	0.199000	0.21867	0.3909:0.0:0.6091:0.0	8.116	0.30105	853	0.34956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	195.33	33	chr7	103661416	.	G	T	195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.182;DP=764;ExcessHet=0;FS=111.462;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=0.861;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,27:141:99:0|1:103661414_G_T:209,0,4057:103661414	18	0	1	0
chr7	103661457	103661457	G	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon12:c.C1360A:p.L454I,RELN:NM_173054:exon12:c.C1360A:p.L454I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0112175312201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46513	D	0.155	0.31936	T	0.956	0.60381	P	0.931	0.66596	D	0.000193	0.48115	D	0.149558	0.86242	0.35412	D	0.805	0.20218	L	1.91	0.23283	T	-0.57	0.17210	N	0.509	0.54584	-0.9876	0.33200	T	0.087	0.33634	T	10	0.34557885	0.51529	T	0.011218	0.28621	T	0.125	0.34456	0.405	0.43738	0.143184338766	0.13958	0.28985269207060804	0.28898	0.70931437092	0.61621	0.516553640366	0.41141	T	0.091412	0.38789	T	-0.150712	0.28200	T	-0.454264	0.27227	T	0.850507497787476	0.50209	D	0.888311	0.61778	D	0.103741445	0.24522	0.08596918	0.19886	0.103741445	0.24521	0.08596918	0.19885	-4.717	0.33610	T	0.2631145919412687	0.35500	0.132	0.28607	B	.;.;.	.;.;.	3.434580	0.47750	22.5	0.99263210966192184	0.57289	0.79405	0.39341	D	AEFBCI	0.785225	0.71567	D	0.477834730318773	0.65799	4.868034	0.529614158061986	0.69993	5.440078	0.999999862972196	0.74766	0.653281	0.48532	0	0.573888	0.26702	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.3	5.3	0.74745	4.954000	0.63335	6.728000	0.56449	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0778:0.0:0.9222:0.0	12.316	0.54278	853	0.34956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	129.33	33	chr7	103661457	.	G	T	129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.242;DP=754;ExcessHet=0;FS=47.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=-1.091;SOR=5.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,16:124:99:0|1:103661457_G_T:143,0,4090:103661457	18	0	1	0
chr7	103661458	103661458	G	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon12:c.C1359A:p.F453L,RELN:NM_173054:exon12:c.C1359A:p.F453L	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.026800171112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.017	0.60337	D	0.924	0.51285	P	0.878	0.62312	P	0.000000	0.84330	D	0.000000	0.999413	0.46970	D	0.975	0.24501	L	1.91	0.23283	T	-2.09	0.47683	N	0.912	0.92084	-1.0706	0.09282	T	0.086	0.33550	T	10	0.8486978	0.84042	D	0.027	0.49675	D	0.249	0.55752	0.721	0.85585	0.482983323606	0.47928	0.8056074165062869	0.80515	0.725124528718	0.62432	0.708046078682	0.68310	T	0.150654	0.49023	T	0.131247	0.67482	D	-0.0492495	0.67073	D	0.769432306289673	0.44405	D	0.815918	0.47089	T	0.26459005	0.49526	0.19117975	0.42562	0.26459005	0.49526	0.19117975	0.42561	-8.82	0.66531	D	0.6153414892861393	0.68325	0.939	0.85832	P	.;.;.	.;.;.	3.789577	0.54539	23.5	0.99853214395081746	0.93191	0.74286	0.36339	D	AEFBCI	0.704807	0.66040	D	0.24867133298644	0.53572	3.525596	0.285641144912547	0.54699	3.634234	0.999991732807561	0.74766	0.653281	0.48532	0	0.573888	0.26702	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.3	4.4	0.52402	2.145000	0.41830	4.529000	0.43718	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.3081:0.0:0.6919:0.0	6.833	0.23102	853	0.34956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	129.33	33	chr7	103661458	.	G	T	129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.746;DP=753;ExcessHet=0;FS=47.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=-1.113;SOR=5.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,16:124:99:0|1:103661457_G_T:143,0,4090:103661457	18	0	1	0
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E,ATXN7L1:NM_001318229:exon10:c.C1620G:p.D540E,ATXN7L1:NM_001385596:exon10:c.C2268G:p.D756E,ATXN7L1:NM_020725:exon10:c.C2268G:p.D756E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	302.82	110	chr7	105614066	.	G	C	302.82	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-2.972;DP=2197;ExcessHet=0.7564;FS=135.624;InbreedingCoeff=-0.2184;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=1.08;SOR=10.318	GT:AD:DP:GQ:PL	0/1:82,23:105:99:108,0,1925	10	0	4	5
chr7	124032402	124032402	-	GCT	exonic	TMEM229A	.	nonframeshift insertion	TMEM229A:NM_001136002:exon1:c.601_602insAGC:p.Q200_R201insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	.	0.0062	0.0056	0	0.0592	0	0.0026	0	0.0070	0.0005951	92	154602	rs748700789	0.0027	0.0026	0.0026	0.0028	0.0272	0.0026	0.0026	0.0258	0.0252	0.0021	0.0020	0.0047	0.0272	0.0002	0.0022	0.0016	0.0045	0.0065	0.0035	0.0035	0.0033	0.0036	0.0384	0.0032	0.0031	0.0340	0.0323	0.0030	0	0.0022	0.0035	0.0384	0.0002	0.0034	0.0018	0.0033	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	12566.5	50	chr7	124032402	.	C	CGCT	12566.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.474;DP=957;ExcessHet=0.0278;FS=1.213;InbreedingCoeff=0.4154;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=28.43;ReadPosRankSum=-0.262;SOR=0.8	GT:AD:DP:GQ:PL	0/1:35,18:53:99:630,0,1387	18	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	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	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.3462	3537.59	237	chr7	128479325	.	T	C	3537.59	.	AC=9;AF=0.346;AN=26;BaseQRankSum=2.39;DP=4144;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4618;MLEAC=11;MLEAF=0.423;MQ=57.58;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.77;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,22:228:99:0|1:128479325_T_C:284,0,8518:128479325	4	0	9	6
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	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	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.375	3542.4	237	chr7	128479326	.	G	C	3542.4	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.86;DP=4339;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4902;MLEAC=12;MLEAF=0.5;MQ=57.62;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.735;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,22:228:99:0|1:128479325_T_C:284,0,8518:128479325	3	0	9	7
chr7	137915948	137915948	C	A	exonic	CREB3L2	.	nonsynonymous SNV	CREB3L2:NM_001253775:exon3:c.G384T:p.E128D,CREB3L2:NM_001318246:exon3:c.G195T:p.E65D,CREB3L2:NM_194071:exon3:c.G384T:p.E128D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0551206834399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.91255	T	0.164	0.36233	T	0.994	0.90584	D	0.97	0.84481	D	0.003743	0.34535	N	0.215792	0.999994	0.58761	D	1.995	0.54099	M	-0.27	0.72348	T	-1.68	0.60665	N	0.495	0.82358	-0.3112	0.74671	T	0.405	0.75515	T	10	0.27412483	0.44965	T	0.055121	0.66117	D	0.219	0.51417	0.171	0.07655	0.604391051337	0.60122	0.1995607976436548	0.19873	0.461233858112	0.45668	0.606671512127	0.53846	T	0.205472	0.56454	T	0.0530158	0.58730	T	-0.161623	0.58206	T	0.672583341598511	0.39453	D	0.684632	0.29288	T	0.099074945	0.23378	0.0935931	0.22115	0.099074945	0.23377	0.0935931	0.22114	-7.247	0.56267	T	.	.	0.260	0.70255	B	.;.;.;.;.;.	.;.;.;.;.;.	3.254588	0.44482	21.9	0.99646121895868878	0.77005	0.82681	0.41875	D	AEFGBI	0.326551	0.42779	N	0.194090313517574	0.50916	3.277135	0.162983926137742	0.47835	3.00775	0.999993274657357	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	4.36	0.51643	0.614000	0.24009	1.000000	0.23254	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.398000	0.26737	0.0:0.7357:0.0:0.2643	9.670	0.39171	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1321.33	40	chr7	137915948	.	C	A	1321.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.52;DP=854;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-0.404;SOR=0.672	GT:AD:DP:GQ:PL	0/1:66,54:120:99:1335,0,1672	18	0	1	0
chr7	142080890	142080890	A	G	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon50:c.A5947G:p.I1983V	.	448	1067	5	2	0	9	0.00419972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.00320192972171	.	0.000199681	0.0011	0.0001	0.0030	0	0.0002	0.0009	0	0.0019	0.000912	141	154602	rs372881857	0.0006	0.0006	0.0006	0.0007	0.0041	0.0006	0.0006	0.0028	0.0024	0.0001	0.0013	0	0	0.0002	0.0041	0.0006	0.0007	0.0019	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0006	0.0006	4.849e-05	0	0.0006	0	0	0.0001	0.0035	0.0008	0.0010	0.0007	.	.	.	0.922	0.02855	T	.	.	.	.	.	.	.	.	.	.	0.999694	0.48338	D	.	.	.	.	.	.	.	.	.	0.146	0.14763	-1.0366	0.18357	T	0.033	0.14203	T	5	0.012555391	0.00269	T	0.003202	0.07026	T	0.169	0.43123	.	.	0.336400405673	0.33241	.	.	.	.	.	.	.	.	.	.	-0.396585	0.02437	T	-0.44441	0.28315	T	0.0390587572431781	0.03521	T	0.879712	0.59601	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26545	B	.	.	2.597876	0.33711	19.42	0.59006821580619295	0.06123	0.57980	0.30519	D	AEFDGI	0.114457	0.22543	N	-0.101233334446424	0.37338	2.170947	-0.0554966789366787	0.37253	2.178723	0.0052521786748023	0.10879	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.67	3.51	0.39297	2.834000	0.47869	.	.	0.751000	0.87719	0.989000	0.36753	1.000000	0.68203	0.994000	0.71098	0.9099:0.0:0.0901:0.0	9.020	0.35355	.	.	Galactose mutarotase, N-terminal barrel	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2194.33	34	chr7	142080890	.	A	G	2194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.091;DP=809;ExcessHet=0;FS=0.584;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.89;MQRankSum=1.24;QD=12.12;ReadPosRankSum=0.359;SOR=0.601	GT:AD:DP:GQ:PL	0/1:92,89:181:99:2208,0,2306	18	0	1	0
chr7	144319004	144319004	G	A	exonic	OR2A1;OR2A42	.	nonsynonymous SNV	OR2A42:NM_001001802:exon1:c.G880A:p.G294R,OR2A1:NM_001005287:exon2:c.G880A:p.G294R	.	748	764	9	1	0	11	0.0071475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	.	0.0120	0.0078	0	0	0	0.0036	0	0.1026	.	.	.	rs1282864820	0.0038	0.0045	0.0027	0.0048	0.0173	0.0037	0.0036	0.0163	0.0159	0.0005	0.0012	0.0063	0	0.0002	0.0054	0.0026	0.0031	0.0173	0.0020	0.0028	0.0019	0.0022	0.0196	0.0018	0.0018	0.0157	0.0143	0.0003	0	0.0011	0.0060	0.0002	0.0001	0	0.0024	0.0013	0.0196	0.067	0.35918	T	0.09	0.40267	T	.	.	.	.	.	.	0.952443	0.07664	U	1.041620	1	0.08975	N	-1.16	0.00885	N	1.37	0.34253	T	0.69	0.02195	N	0.102	0.08506	-0.9860	0.33590	T	0.022	0.09147	T	8	0.0032540858	0.00056	T	.	.	.	0.014	0.01968	0.447	0.50629	0.165150595986	0.16160	0.07496083586653808	0.07432	.	.	0.193813040853	0.00300	T	0.001541	0.00986	T	-0.312523	0.07529	T	-0.686694	0.06582	T	0.00598924206153479	0.00066	T	0.234177	0.03217	T	0.093617946	0.21991	0.10290255	0.24676	0.093617946	0.21991	0.10290255	0.24675	1.827	0.00061	T	.	.	0.083	0.09191	B	.;.	.;.	0.059318	0.04708	1.344	0.60138749429665128	0.06391	0.00381	0.01927	N	AEFI	0.079888	0.16143	N	-1.33598359763128	0.03272	0.145902	-1.46145638535985	0.02668	0.1231349	2.73440094774957E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.46	-5.32	0.02511	-0.011000	0.12659	-3.640000	0.02638	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.6236:0.0:0.2418:0.1346	6.510	0.21416	948	0.11499	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009000	0.000000	0.000000	0.009091	0.000000	0.000000	0.006173	0.051471	0.02632	35.3	3	chr7	144319004	.	G	A	35.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=68;ExcessHet=0;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=27;MQRankSum=0;QD=7.06;ReadPosRankSum=-0.524;SOR=0.446	GT:AD:DP:GQ:PL	0/1:3,2:5:48:48,0,80	18	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4737	21366.3	445	chr7	152229940	.	A	G	21366.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.758;DP=6155;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=44.67;MQRankSum=0.851;QD=3.8;ReadPosRankSum=0.116;SOR=0.691	GT:AD:DP:GQ:PL	0/1:292,118:410:99:1923,0,10094	1	0	18	0
chr8	6730737	6730737	G	T	exonic	AGPAT5	.	nonsynonymous SNV	AGPAT5:NM_018361:exon3:c.G316T:p.A106S	.	433	1064	24	1	0	26	0.0120706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.762	0.121132520716	0.0002	0.00119808	0.0011	0	8.664e-05	0	0	0.0004	0.0011	0.0061	0.0008797	136	154602	rs145228795	0.0006	0.0006	0.0004	0.0008	0.0071	0.0006	0.0006	0.0067	0.0065	2.988e-05	0.0002	0	0	0	0.0059	0.0002	0.0008	0.0071	0.0004	0.0004	0.0003	0.0005	0.0069	0.0003	0.0003	0.0050	0.0044	0	0	6.543e-05	0	0	0	0.0034	0.0003	0.0014	0.0069	0.0	0.91255	D	0.149	0.32568	T	0.693	0.41684	P	0.708	0.54437	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	-4.41	0.97444	D	-2.88	0.60507	D	0.871	0.86833	1.052	0.98150	D	0.941	0.98061	D	10	0.059978187	0.07295	T	0.121133	0.80183	D	0.762	0.91920	.	.	0.971170073977	0.97086	0.6896152739280469	0.68901	0.0955936571595	0.10801	0.561151742935	0.47431	T	0.776726	0.94069	D	0.0573348	0.59277	T	0.312749	0.88778	D	0.127264950169297	0.15127	T	.	.	.	0.628092	0.74197	0.58132035	0.75731	0.628092	0.74198	0.58132035	0.75732	-5.872	0.45195	T	.	.	0.390	0.58993	A	.	.	4.602990	0.72918	25.9	0.95074839555494595	0.26119	0.98521	0.83668	D	AEFBHI	0.915862	0.88123	D	0.631112740843489	0.75150	6.255626	0.59867820508608	0.74844	6.206858	0.999999999999995	0.74766	0.75658	0.98901	0	0.696144	0.67643	0	0.732669	0.93749	0	0.656636	0.63459	0	.	.	5.65	5.65	0.86881	9.760000	0.98127	9.665000	0.81204	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.102000	0.18378	0.0:0.0:1.0:0.0	17.231	0.86867	988	0.01987	Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase	.	.	.	.	.	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	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.012195	0.011364	0.02632	1817.33	57	chr8	6730737	.	G	T	1817.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.14;DP=907;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-1.439;SOR=0.679	GT:AD:DP:GQ:PL	0/1:77,87:164:99:1831,0,1565	18	0	1	0
chr8	10610137	10610137	-	CACCGCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3960_3961insGAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGCGGTG:p.Q1321_G2392delinsELEETKTEEGLQEEGVQLEGTKTEEGLQEEGVQLEGTKTEEGLQEEAVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.205e-06	0.0001	9.251e-06	3.122e-06	6.022e-06	2.67e-06	1.93e-06	2.17e-06	1.42e-06	0	0	0	0	2.242e-05	0	6.022e-06	1.925e-05	0	2.062e-05	0.0001	2.683e-05	1.409e-05	6.718e-05	5.48e-06	2.52e-06	4.95e-06	1.85e-06	0	0	6.718e-05	0	0	0	0	2.982e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6239.81	290	chr8	10610137	.	G	GCACCGCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTC	6239.81	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.602;DP=5561;ExcessHet=0.119;FS=13.412;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=59.31;MQRankSum=0.916;QD=26;ReadPosRankSum=1.25;SOR=1.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:147,0:147:99:.:.:4717,0,5043:.	18	0	1	0
chr8	17274953	17274953	A	G	exonic	VPS37A	.	nonsynonymous SNV	VPS37A:NM_001145152:exon4:c.A562G:p.I188V,VPS37A:NM_001363167:exon5:c.A637G:p.I213V,VPS37A:NM_001363169:exon5:c.A367G:p.I123V,VPS37A:NM_001363171:exon5:c.A367G:p.I123V,VPS37A:NM_001363173:exon5:c.A637G:p.I213V,VPS37A:NM_152415:exon5:c.A637G:p.I213V,VPS37A:NM_001363168:exon6:c.A367G:p.I123V,VPS37A:NM_001363170:exon6:c.A367G:p.I123V,VPS37A:NM_001363172:exon6:c.A367G:p.I123V	Spastic paraplegia 53, autosomal recessive, Autosomal recessive	10	1511	1	0	0	1	0.000330797	.	.	.	268394	not_specified|Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_53|not_provided	MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0013962,MedGen:C3539494,OMIM:614898,Orphanet:319199|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.045	.	0.0007	0.0081869	0.0032	0.0013	0.0002	0.0392	0.0003	0.0003	0.0022	0.0002	0.0029495	456	154602	rs17687375	0.0009	0.0009	0.0009	0.0009	0.0252	0.0009	0.0009	0.0239	0.0234	0.0010	0.0005	3.83e-05	0.0252	0.0003	0.0005	0.0001	0.0025	0.0003	0.0018	0.0018	0.0016	0.0019	0.0340	0.0016	0.0015	0.0299	0.0283	0.0013	0	0.0014	0	0.0340	0.0002	0	5.88e-05	0.0009	0.0010	0.519	0.07283	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.819304	0.09191	N	0.914092	1	0.08975	N	0	0.06538	N	0.63	0.53088	T	0.19	0.04947	N	0.03	0.00717	-1.0455	0.15680	T	0.013	0.04890	T	10	0.002766043	0.00043	T	.	.	.	0.045	0.12272	.	.	0.043077524339	0.03247	0.19082180934151513	0.19000	0.0134498855525	0.01295	0.246975421906	0.03455	T	0.009476	0.08629	T	-0.695816	0.00039	T	-0.742281	0.03795	T	0.000358159722222222	0.00003	T	0.440256	0.12156	T	0.013372217	0.00057	0.021962762	0.00232	0.018309508	0.00352	0.018661903	0.00062	-2.746	0.07821	T	0.08108224529502618	0.04153	0.060	0.00904	B	.;.	.;.	-1.028945	0.00731	0.022	0.24021839632739195	0.01043	0.01330	0.04586	N	AEFBI	0.034243	0.04207	N	-1.34365014308661	0.03191	0.1421386	-1.3320594822987	0.04022	0.1888422	0.00203105125044215	0.09096	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.25	-1.12	0.09306	-0.255000	0.08789	-0.019000	0.12951	-1.811000	0.00612	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	0.4539:0.142:0.2752:0.1289	1.928	0.03119	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1102.33	40	chr8	17274953	.	A	G	1102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.406;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.77;SOR=0.711	GT:AD:DP:GQ:PL	0/1:63,45:108:99:1116,0,1784	18	0	1	0
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q,INTS9:NM_001172562:exon12:c.C1149G:p.H383Q,INTS9:NM_001363038:exon12:c.C1221G:p.H407Q,INTS9:NM_018250:exon12:c.C1221G:p.H407Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.3056	808.56	107	chr8	28780872	.	G	C	808.56	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-3.658;DP=1552;ExcessHet=8.9063;FS=232.795;InbreedingCoeff=-0.3979;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=-0.439;SOR=11.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:95,34:129:99:.:.:154,0,1802:.	7	0	11	1
chr8	39023298	39023298	G	A	exonic	ADAM9	.	nonsynonymous SNV	ADAM9:NM_003816:exon9:c.G887A:p.R296Q	Cone-rod dystrophy 9	0	1487	34	1	0	36	0.0119601	.	.	.	700586	not_provided|Cone-rod_dystrophy_9|ADAM9-related_disorder	MedGen:C3661900|MONDO:MONDO:0013002,MedGen:C1423873,OMIM:612775,Orphanet:1872|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.077	.	0.0003	0.00299521	0.0016	9.614e-05	0	0	0	0.0002	0.0044	0.0108	0.0014359	222	154602	rs140082569	0.0008	0.0008	0.0005	0.0011	0.0106	0.0008	0.0008	0.0100	0.0098	8.963e-05	0.0001	0.0007	0	0	0.0062	0.0001	0.0009	0.0106	0.0004	0.0004	0.0003	0.0006	0.0075	0.0003	0.0003	0.0056	0.0049	9.653e-05	0	0.0001	0.0006	0.0004	0	0.0068	0.0002	0.0014	0.0075	0.215	0.19293	T	0.342	0.17910	T	0.19	0.29379	B	0.104	0.31021	B	0.000466	0.44119	D	0.222992	0.996547	0.43267	D	0.845	0.21182	L	-0.03	0.63077	T	-0.86	0.23372	N	0.269	0.30461	-0.9490	0.41143	T	0.156	0.48738	T	10	0.010584384	0.00235	T	.	.	.	0.077	0.22490	.	.	0.619369558668	0.61629	0.7875244783580344	0.78704	0.725681066863	0.62467	0.367673099041	0.20497	T	0.069037	0.33608	T	-0.361387	0.04053	T	-0.284065	0.46386	T	0.081637792289257	0.10196	T	0.892211	0.62852	D	0.15890746	0.35725	0.12609394	0.30372	0.15890746	0.35725	0.12609394	0.30371	-7.237	0.55746	T	0.21740283894345605	0.29260	0.099	0.16800	B	.	.	3.887764	0.56547	23.7	0.99678237190756069	0.79043	0.97884	0.77855	D	AEFBI	0.683345	0.64606	D	-0.0573578137192683	0.39275	2.313407	0.127578103551964	0.45966	2.850455	0.999999959626565	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.82	4.94	0.64645	4.607000	0.60840	3.905000	0.40374	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0698:0.0:0.9302:0.0	14.455	0.66986	661	0.61838	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type	.	.	.	.	.	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	0.004040	0.000000	0.005435	0.000000	0.000000	0.000000	0.006135	0.011364	0.02632	815.33	33	chr8	39023298	.	G	A	815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-1.383;SOR=0.664	GT:AD:DP:GQ:PL	0/1:26,33:59:99:829,0,557	18	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00706836418652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.238	0.24549	T	.	.	.	.	.	.	0.090174	0.20389	N	0.555104	0.961293	0.26113	N	.	.	.	0.84	0.47477	T	-4.3	0.76496	D	0.246	0.27792	-1.0045	0.28607	T	0.111	0.39794	T	9	0.22104406	0.38819	T	0.007068	0.18731	T	0.081	0.23632	0.545	0.65873	0.527709697666	0.52419	0.24483781067763596	0.24397	0.0119131882015	0.01126	0.323112666607	0.13892	T	0.04384	0.26629	T	-0.132191	0.31142	T	-0.427659	0.30200	T	0.487845450639725	0.32185	T	0.687331	0.29630	T	0.30245233	0.53124	0.32984304	0.58859	0.30245233	0.53124	0.32984304	0.58859	-4.95	0.36292	T	.	.	0.081	0.10111	B	.;.	.;.	2.274105	0.29073	18.00	0.97543554842314006	0.34528	0.55831	0.29963	D	AEFGBHCIJ	0.166507	0.29309	N	-0.219843592222308	0.32320	1.821466	-0.0760077972745151	0.36385	2.116762	0.999889765854876	0.44867	0.573017	0.32728	1	0.607795	0.50457	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.66	4.51	0.54589	1.779000	0.38254	5.302000	0.48239	0.756000	0.94297	0.777000	0.29437	1.000000	0.68203	0.952000	0.50033	0.9115:0.0:0.0885:0.0	8.423	0.31876	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	253.95	36	chr8	39963621	.	A	G	253.95	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.5;DP=2573;ExcessHet=0.7564;FS=95.1;InbreedingCoeff=-0.1267;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.07;SOR=11.761	GT:AD:DP:GQ:PL	0/1:143,39:182:99:142,0,2547	15	0	4	0
chr8	41541835	41541835	G	A	exonic	GINS4	.	nonsynonymous SNV	GINS4:NM_032336:exon7:c.G511A:p.V171M	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0373064001694	.	0.000998403	0.0003	9.612e-05	0	0.0037	0	1.5e-05	0	0.0002	0.0003105	48	154602	rs141719341	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0032	0.0030	0.0001	2.236e-05	3.827e-05	0.0037	0	0	2.968e-05	0.0006	0.0004	0.0003	0.0003	0.0002	0.0003	0.0056	0.0002	0.0002	0.0040	0.0035	0.0002	0	0	0	0.0056	0	0	1.47e-05	0.0005	0.0008	0.002	0.78490	D	0.06	0.45961	T	1.0	0.90584	D	0.79	0.57710	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.285	0.90273	M	.	.	.	-2.51	0.54546	D	0.791	0.78737	0.094	0.84061	D	0.505	0.81344	D	9	0.021388203	0.00511	T	0.037306	0.57535	D	0.503	0.78538	.	.	0.761784165048	0.75962	0.7906023734157561	0.79012	0.920288420152	0.71416	0.693914532661	0.66268	T	0.647203	0.89251	D	0.171915	0.71299	D	0.475948	0.94116	D	0.184585889100462	0.19519	T	0.934007	0.75281	D	0.77250975	0.82199	0.6316942	0.78512	0.77250975	0.82200	0.6316942	0.78513	-8.562	0.64838	D	.	.	0.815	0.81023	P	.;.;.	.;.;.	5.134849	0.85943	28.8	0.99910436780594669	0.98022	0.99131	0.91682	D	AEFDGBIJ	0.909361	0.86588	D	0.928737640316247	0.93096	11.818	0.901602010050512	0.95641	13.82069	1.0	0.98316	0.730579	0.87903	0	0.724815	0.89359	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	5.93	5.93	0.95888	9.602000	0.97623	11.690000	0.94342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	19.325	0.94246	657	0.62240	DNA replication complex GINS protein SLD5, C-terminal;DNA replication complex GINS protein SLD5, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1874.33	37	chr8	41541835	.	G	A	1874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=762;ExcessHet=0;FS=2.325;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-1.361;SOR=0.508	GT:AD:DP:GQ:PL	0/1:57,73:130:99:1888,0,1292	18	0	1	0
chr8	51898961	51898961	C	G	exonic	PCMTD1	.	nonsynonymous SNV	PCMTD1:NM_001286782:exon1:c.G151C:p.A51P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0233226644068	.	0.000199681	0.0002	0	0	0	.	0.0007	0	0	1.29e-05	2	154602	rs547435060	8.26e-06	7.524e-06	5.918e-06	1.067e-05	3.298e-05	4.43e-06	3.24e-06	7.6e-07	2.1e-07	0	0	0.0002	3.298e-05	0	0	2.845e-06	3.597e-05	0	1.313e-05	1.312e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0.0002	0	0	0	0	0	0.0	0.91255	D	.	.	.	0.699	0.41837	P	0.307	0.41295	B	.	.	.	.	1	0.19486	N	.	.	.	0.84	0.47477	T	-0.71	0.20145	N	0.2	0.22098	-1.0081	0.27510	T	0.088	0.34105	T	8	0.03554818	0.01809	T	0.023323	0.46274	T	0.010	0.01040	0.25	0.18757	0.347217280506	0.34334	.	.	.	.	.	.	.	0.011706	0.10405	T	-0.312759	0.07508	T	-0.604168	0.12463	T	0.19812947511673	0.20312	T	0.378962	0.09121	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03301	B	.	.	0.974033	0.13511	10.03	0.69495346001433367	0.08991	0.00840	0.03368	N	AEFGBHCIJ	0.079819	0.16128	N	-0.712402352632135	0.15672	0.791906	-0.912766309966959	0.11792	0.6029287	0.999996948813027	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.69	-0.267	0.12298	-0.460000	0.06797	-2.095000	0.04221	-0.382000	0.05385	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.236:0.4799:0.0:0.2841	2.431	0.04199	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	303.33	36	chr8	51898961	.	C	G	303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.788;DP=631;ExcessHet=0;FS=1.271;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=2.03;SOR=0.465	GT:AD:DP:GQ:PL	0/1:21,16:37:99:317,0,482	18	0	1	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	544.08	93	chr8	66493691	.	G	C	544.08	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-2.074;DP=1191;ExcessHet=6.9875;FS=128.3;InbreedingCoeff=-0.3756;MLEAC=10;MLEAF=0.278;MQ=59.61;MQRankSum=-0.015;QD=0.89;ReadPosRankSum=1.58;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,18:76:98:.:.:98,0,832:.	8	0	10	1
chr8	67267197	67267197	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1706C:p.Y569S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	237.59	77	chr8	67267197	.	T	G	237.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2.192;DP=1067;ExcessHet=0.119;FS=135.812;InbreedingCoeff=-0.0707;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=3.01;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,21:122:99:0|1:67267197_T_G:195,0,3324:67267197	16	0	2	1
chr8	67267206	67267206	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1697C:p.Y566S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	665.25	64	chr8	67267206	.	T	G	665.25	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-4.209;DP=1722;ExcessHet=0.7564;FS=168.069;InbreedingCoeff=-0.2463;MLEAC=5;MLEAF=0.208;MQ=60;MQRankSum=0;QD=1.36;ReadPosRankSum=1.52;SOR=9.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,23:117:99:0|1:67267197_T_G:239,0,3132:67267197	8	0	4	7
chr8	69832346	69832346	C	T	exonic	SLCO5A1	.	nonsynonymous SNV	SLCO5A1:NM_001146008:exon1:c.G328A:p.A110T,SLCO5A1:NM_001146009:exon1:c.G328A:p.A110T,SLCO5A1:NM_030958:exon2:c.G328A:p.A110T	.	431	1080	11	0	0	11	0.00506679	.	.	.	711621	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.023	.	0.0071	0.00239617	0.0052	0.0012	0.0026	0	0.0085	0.0077	0.0055	0.0004	0.0052263	808	154602	rs34148850	0.0075	0.0075	0.0077	0.0073	0.0085	0.0074	0.0073	0.0084	0.0083	0.0010	0.0036	0.0069	2.519e-05	0.0111	0.0049	0.0085	0.0073	0.0003	0.0059	0.0059	0.0059	0.0058	0.0087	0.0056	0.0054	0.0082	0.0079	0.0015	0	0.0066	0.0063	0	0.0095	0	0.0087	0.0080	0	0.768	0.04340	T	0.95	0.02662	T	0.002	0.09854	B	0.0	0.01387	B	0.277603	0.15005	N	0.617271	0.999997	0.08975	N	-0.55	0.02420	N	1.21	0.39223	T	-0.07	0.10656	N	0.01	0.00445	-1.0068	0.27912	T	0.030	0.12979	T	10	0.003406942	0.00060	T	.	.	.	0.023	0.04649	.	.	0.216624796971	0.21254	0.1443062845520419	0.14353	0.281943473049	0.30663	0.279977560043	0.07489	T	0.001628	0.01056	T	-0.722524	0.00027	T	-0.803951	0.01806	T	0.000555797278350387	0.00005	T	0.685431	0.29402	T	0.020339876	0.00589	0.046992466	0.06672	0.020339876	0.00589	0.046992466	0.06672	-4.274	0.27811	T	.	.	0.064	0.01645	B	.;.;.	.;.;.	-0.588668	0.01602	0.109	0.89529917206741705	0.18875	0.05467	0.11348	N	AEFDGBHCI	0.048919	0.08399	N	-1.33664095835904	0.03265	0.1455717	-1.27545147771372	0.04764	0.2255202	0.9999984422303	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.96	-0.401	0.11789	-0.373000	0.07550	0.585000	0.19752	-0.924000	0.02182	0.000000	0.06391	0.993000	0.31925	0.002000	0.04165	0.0:0.5501:0.0:0.4499	9.544	0.38431	897	0.25382	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.010101	0.004076	0.002924	0.050000	0.000000	0.006098	0.000000	0.02632	1544.33	33	chr8	69832346	.	C	T	1544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=1.67;SOR=0.734	GT:AD:DP:GQ:PL	0/1:99,62:161:99:1558,0,2479	18	0	1	0
chr8	76704638	76704638	C	T	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon2:c.C550T:p.P184S	.	0	1508	14	0	0	14	0.00462046	.	.	.	2215373	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.00445974737805	.	.	0.0002	0	0	0	0	6.005e-05	0	0.0009	0.0001229	19	154602	rs770449887	9.646e-05	9.645e-05	8.168e-05	0.0001	0.0023	8.31e-05	7.85e-05	0.0013	0.0011	0	0	0	0	0	0.0023	4.137e-05	0.0002	0.0008	3.942e-05	3.94e-05	2.569e-05	5.38e-05	0.0004	1.715e-05	1.129e-05	7.279e-05	3.025e-05	0	0	6.541e-05	0	0	0	0	2.94e-05	0.0005	0.0004	0.078	0.33923	T	0.212	0.26549	T	.	.	.	.	.	.	0.000473	0.44119	U	0.000000	0.999993	0.58761	D	0.435	0.12660	N	1.68	0.27184	T	-4.18	0.75537	D	0.246	0.37301	-1.0685	0.09746	T	0.034	0.14464	T	10	0.05478701	0.05886	T	0.00446	0.10937	T	0.066	0.19193	0.339	0.32979	0.0675242888579	0.06100	0.4246883332594747	0.42385	0.549042539457	0.51823	0.647955656052	0.59695	T	.	.	.	-0.502283	0.00555	T	-0.579776	0.14565	T	0.0576460490919469	0.06792	T	0.829717	0.50309	T	.	.	.	.	.	.	.	.	-3.957	0.23158	T	.	.	0.071	0.03811	B	.;.;.	.;.;.	3.218190	0.43840	21.8	0.97457936748131357	0.34069	0.96194	0.67967	D	AEFBI	0.463849	0.51259	N	-0.24997948503742	0.31105	1.740797	-0.0684053462564212	0.36704	2.139493	0.999682868037478	0.41756	0.638212	0.43195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.42	4.54	0.55220	2.753000	0.47203	2.291000	0.31959	0.599000	0.40250	0.995000	0.38783	0.988000	0.31051	0.998000	0.85391	0.0:0.7096:0.147:0.1434	7.100	0.24510	855	0.34697	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.000000	0.02632	2003.33	34	chr8	76704638	.	C	T	2003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.817;DP=775;ExcessHet=0;FS=0.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-1.279;SOR=0.801	GT:AD:DP:GQ:PL	0/1:65,74:139:99:2017,0,1844	18	0	1	0
chr8	76863582	76863582	G	A	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon11:c.G9868A:p.V3290I	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00257349298082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.14945	T	0.141	0.33442	T	.	.	.	.	.	.	0.030454	0.25306	N	0.186718	0.999381	0.22332	N	.	.	.	0.81	0.48460	T	-0.16	0.09460	N	0.157	0.18239	-1.0361	0.18513	T	0.079	0.31254	T	10	0.1460576	0.27696	T	0.002573	0.05178	T	0.018	0.03083	0.278	0.23164	0.123314135267	0.11883	0.09646966311340009	0.09578	0.128873600519	0.14530	0.447457909584	0.31596	T	.	.	.	-0.247572	0.14399	T	-0.593396	0.13372	T	0.217326045036316	0.21330	T	0.776822	0.40920	T	.	.	.	.	.	.	.	.	-3.917	0.22557	T	.	.	.	.	.	.;.	.;.	1.766321	0.22462	15.63	0.63814781426466805	0.07324	0.73643	0.36022	D	AEFBI	0.109981	0.21825	N	-0.260468650551464	0.30687	1.71345	-0.0900954256243544	0.35799	2.075438	0.0148749110446187	0.12648	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.73	3.84	0.43422	1.790000	0.38366	2.308000	0.32059	0.676000	0.76740	0.956000	0.33378	0.995000	0.32472	0.716000	0.34643	0.1567:0.0:0.8433:0.0	10.045	0.41352	795	0.45444	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2687.33	33	chr8	76863582	.	G	A	2687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.68;DP=809;ExcessHet=0;FS=1.143;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=2.43;SOR=0.589	GT:AD:DP:GQ:PL	0/1:86,103:189:99:2701,0,2183	18	0	1	0
chr8	99887614	99887614	C	T	exonic	COX6C	.	nonsynonymous SNV	COX6C:NM_004374:exon3:c.G119A:p.R40H	.	438	1083	1	0	0	1	0.000461467	.	.	.	2360998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.00248302562393	.	.	9.85e-05	0	0.0003	0	0	1.638e-05	0	0.0005	9.06e-05	14	154602	rs746221706	6.193e-05	6.43e-05	5.123e-05	7.275e-05	0.0005	5.115e-05	4.752e-05	0.0004	0.0003	6.362e-05	5.229e-05	3.967e-05	0	0	0	3.534e-05	5.058e-05	0.0005	1.316e-05	1.314e-05	1.286e-05	1.347e-05	6.551e-05	2.19e-06	8.2e-07	.	.	0	0	6.551e-05	0	0	0	0	1.47e-05	0	0	0.056	0.38185	T	0.449	0.12993	T	0.634	0.40281	P	0.105	0.31087	B	0.248057	0.15569	N	0.659654	0.999833	0.20152	N	.	.	.	.	.	.	-0.18	0.09796	N	0.068	0.04913	-1.0534	0.13466	T	0.069	0.28346	T	8	0.09627494	0.17256	T	0.002483	0.04925	T	0.096	0.27654	0.504	0.59770	0.0762999501168	0.06990	0.2912787653154904	0.29040	0.144928382742	0.16372	0.330502867699	0.15011	T	0.104386	0.41391	T	-0.436253	0.01361	T	-0.555556	0.16796	T	0.0505055306950818	0.05588	T	0.521048	0.16963	T	0.027178459	0.01873	0.049006365	0.07400	0.027178459	0.01873	0.049006365	0.07400	-5.635	0.43111	T	.	.	0.120	0.24934	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.020577	0.13998	10.57	0.98896556169380956	0.48109	0.30669	0.24142	N	AEFBI	0.390856	0.46952	N	-0.979585933278429	0.09040	0.4262364	-1.04967789256647	0.08713	0.4297829	0.931893897190146	0.27067	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.57	-3.48	0.04438	-0.199000	0.09493	0.021000	0.13590	-2.010000	0.00442	0.003000	0.16062	0.072000	0.22236	0.331000	0.25224	0.0:0.8679:0.1321:0.0	25.831	0.99995	458	0.78890	Mitochondrial cytochrome c oxidase subunit VIc/VIIs;Mitochondrial cytochrome c oxidase subunit VIc/VIIs;Mitochondrial cytochrome c oxidase subunit VIc/VIIs;Mitochondrial cytochrome c oxidase subunit VIc/VIIs;Mitochondrial cytochrome c oxidase subunit VIc/VIIs;Mitochondrial cytochrome c oxidase subunit VIc/VIIs;Mitochondrial cytochrome c oxidase subunit VIc/VIIs;Mitochondrial cytochrome c oxidase subunit VIc/VIIs	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	1271.33	34	chr8	99887614	.	C	T	1271.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.294;DP=743;ExcessHet=0;FS=4.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.421;SOR=1.105	GT:AD:DP:GQ:PL	0/1:37,52:89:99:1285,0,831	18	0	1	0
chr8	109381403	109381403	T	A	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon3:c.T197A:p.V66D	.	443	1076	3	0	0	3	0.00139211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.0123685796489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416789430	2.801e-06	2.736e-06	2.774e-06	2.828e-06	0.0003	6.6e-07	4.4e-07	6.131e-05	2.536e-05	0	0	0	0	0	0.0003	0	3.382e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	0.07259	T	0.135	0.34124	T	0.035	0.20614	B	0.011	0.15521	B	0.018134	0.27555	N	0.376327	0.952065	0.37767	D	0.97	0.24054	L	-2.05	0.85799	D	-1.08	0.28084	N	0.462	0.49874	-0.8048	0.54861	T	0.331	0.69834	T	10	0.09664625	0.17349	T	0.012369	0.30882	T	0.326	0.64826	0.553	0.66995	0.154104182512	0.14974	0.6805196984595142	0.67990	0.0405681559294	0.04348	0.34175491333	0.16701	T	0.039131	0.25082	T	-0.00309207	0.51227	T	-0.242218	0.50583	T	0.0467542558908463	0.04920	T	0.692231	0.30167	T	0.113448806	0.26793	0.11330518	0.27344	0.113448806	0.26792	0.11330518	0.27344	-3.084	0.11113	T	.	.	0.081	0.08176	B	.	.	0.615021	0.09835	6.598	0.8821739942631639	0.17806	0.23606	0.22130	N	AEFBI	0.106792	0.21297	N	-0.725337774353231	0.15311	0.7705346	-0.576309776222342	0.20112	1.082072	0.00472044789906454	0.10684	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.16	2.55	0.29757	-0.165000	0.09957	-0.178000	0.11160	-0.137000	0.12594	0.656000	0.28225	0.128000	0.22971	0.922000	0.45779	0.1445:0.2397:0.0:0.6158	3.980	0.08983	706	0.57215	IPT domain|IPT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	835.33	33	chr8	109381403	.	T	A	835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=703;ExcessHet=0;FS=0.877;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.352;SOR=0.846	GT:AD:DP:GQ:PL	0/1:45,32:77:99:849,0,1030	18	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	899.74	179	chr8	132010871	.	G	C	899.74	.	AC=12;AF=0.375;AN=32;BaseQRankSum=-2.931;DP=2730;ExcessHet=11.1788;FS=198.961;InbreedingCoeff=-0.5515;MLEAC=13;MLEAF=0.406;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=1.12;SOR=12.747	GT:AD:DP:GQ:PL	0/1:103,36:148:92:92,0,1380	4	0	12	3
chr8	138688930	138688930	T	G	exonic	COL22A1	.	nonsynonymous SNV	COL22A1:NM_152888:exon37:c.A2849C:p.E950A	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0793533886439	0.0008	0.000798722	0.0008	9.61e-05	0.0015	0	0	0.0011	0.0033	0.0002	0.0007503	116	154602	rs139003178	0.0006	0.0006	0.0006	0.0006	0.0069	0.0006	0.0006	0.0052	0.0046	0.0003	0.0016	0.0120	0	0	0.0069	0.0003	0.0018	0.0001	0.0009	0.0009	0.0009	0.0009	0.0031	0.0008	0.0007	0.0024	0.0022	0.0001	0	0.0031	0.0121	0	0	0.0102	0.0005	0.0024	0	0.565	0.06282	T	0.651	0.06713	T	0.993	0.65571	D	0.956	0.69739	D	0.006749	0.31824	U	0.137650	0.82145	0.28877	N	0.25	0.09762	N	-3.15	0.92938	D	-1.27	0.31981	N	0.2	0.29889	0.199	0.85887	D	0.775	0.92356	D	10	0.009265125	0.00209	T	0.079353	0.73214	D	0.403	0.71636	.	.	0.43912465853	0.43530	0.7423722033542218	0.74183	0.0892704095681	0.10086	0.469101905823	0.34557	T	0.003839	0.03252	T	-0.22353	0.17514	T	-0.118489	0.61927	T	0.0383178553043104	0.03389	T	0.855414	0.72323	D	0.12020602	0.28290	0.0699462	0.14801	0.12020602	0.28290	0.0699462	0.14800	-3.853	0.26316	T	.	.	0.123	0.25785	B	.;.	.;.	2.386070	0.30632	18.50	0.95267521415419276	0.26544	0.79974	0.39739	D	AEFDGI	0.128037	0.24565	N	0.229545541894588	0.52635	3.43649	0.20499199138698	0.50125	3.20778	0.00419187608266959	0.10453	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.85	3.85	0.43556	1.147000	0.31213	2.134000	0.30799	0.654000	0.53741	0.996000	0.39380	1.000000	0.68203	0.922000	0.45779	0.0:0.0:0.0:1.0	9.214	0.36498	943	0.12886	.;.	.	.	.	.	.	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	0.008560	0.030303	0.012228	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1322.33	42	chr8	138688930	.	T	G	1322.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.323;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.567;SOR=0.693	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1336,0,1319	18	0	1	0
chr8	143805209	143805209	C	T	exonic	SCRIB	.	nonsynonymous SNV	SCRIB:NM_015356:exon19:c.G2573A:p.R858H,SCRIB:NM_182706:exon19:c.G2573A:p.R858H	.	409	1112	1	0	0	1	0.000449438	.	.	.	4066371	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.105540779593	.	.	5.132e-05	0.0004	0	0	0	4.593e-05	0	0	2.59e-05	4	154602	rs782812033	3.987e-05	4.378e-05	2.817e-05	5.181e-05	0.0005	3.149e-05	2.83e-05	0.0003	0.0003	0.0005	0	0	2.651e-05	0	0.0004	2.759e-05	8.629e-05	1.253e-05	3.288e-05	3.284e-05	3.856e-05	2.693e-05	7.244e-05	1.262e-05	7.99e-06	1.921e-05	1.032e-05	7.244e-05	0	0	0	0	0	0	2.942e-05	0	0	0.081	0.33418	T	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-1.12	0.30346	N	0.282	0.31925	-1.0547	0.13119	T	0.072	0.29387	T	9	0.08416322	0.14078	T	0.105541	0.78070	D	0.060	0.17295	.	.	0.327946701059	0.32395	0.4326433778827216	0.43181	.	.	0.745028674603	0.73713	T	0.093868	0.39300	T	-0.205814	0.19972	T	-0.533414	0.18946	T	0.113512103448357	0.13784	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28290	B	.;.;.	.;.;.	3.469435	0.48398	22.6	0.98796895392580875	0.46381	0.23428	0.22073	N	AEFDBCI	0.126925	0.24406	N	-0.652726950202745	0.17381	0.8939003	-0.606257559786969	0.19332	1.036723	0.785884309296099	0.23928	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.18	4.18	0.48473	0.822000	0.27007	.	.	0.589000	0.31548	0.047000	0.21291	0.992000	0.31684	0.184000	0.21420	0.0:0.8862:0.0:0.1138	9.403	0.37610	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1626.33	37	chr8	143805209	.	C	T	1626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.336;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-2.019;SOR=0.642	GT:AD:DP:GQ:PL	0/1:57,66:123:99:1640,0,1355	18	0	1	0
chr8	143950226	143950226	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201380:exon1:c.C481T:p.R161W	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	.	.	.	.	.	.	.	.	.	.	577053	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.174281979557	8.4e-05	.	5.788e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs375696082	2.067e-05	3.215e-05	1.966e-05	2.17e-05	6.236e-05	1.45e-05	1.254e-05	1.419e-05	1.185e-05	6.236e-05	0	0	5.441e-05	0	0	2.131e-05	3.456e-05	0	1.972e-05	1.97e-05	2.569e-05	1.345e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.007	0.59928	D	0.024	0.56640	D	0.83	0.46087	P	0.075	0.28327	B	0.559789	0.11348	U	0.719798	1	0.81001	D	0	0.06538	N	-1.05	0.76690	T	-0.46	0.14978	N	0.239	0.26957	-0.8370	0.52845	T	0.177	0.52256	T	10	0.1316874	0.25064	T	0.174282	0.85072	D	0.216	0.50959	.	.	0.32714864917	0.32323	0.6019841086118183	0.60129	.	.	0.627201557159	0.56749	T	0.05739	0.30554	T	-0.0876579	0.38461	T	-0.363691	0.37625	T	0.2673274403225	0.23633	T	0.723528	0.33695	T	0.093069375	0.21850	0.06592059	0.13431	0.093069375	0.21849	0.06592059	0.13431	-6.095	0.47068	T	.	.	0.105	0.19276	B	.	.	2.050893	0.26070	16.99	0.95697713430471898	0.27585	0.02836	0.07583	N	AEFDGBHCI	0.202631	0.32921	N	-0.538734551286113	0.20838	1.101533	-0.493428954073213	0.22334	1.212565	0.999999999989118	0.74766	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.581474	0.35302	0	.	.	4.45	3.57	0.40014	2.029000	0.40718	.	.	-0.252000	0.07121	0.005000	0.17040	0.999000	0.35428	0.707000	0.34357	0.0:0.7982:0.2018:0.0	10.440	0.43644	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	0.001019	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	847.33	35	chr8	143950226	.	G	A	847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.66;DP=736;ExcessHet=0;FS=6.505;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.998;SOR=1.461	GT:AD:DP:GQ:PL	0/1:42,33:75:99:861,0,1004	18	0	1	0
chr8	144435946	144435948	CTC	-	exonic	TONSL	.	nonframeshift deletion	TONSL:NM_013432:exon17:c.2485_2487del:p.829_829del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.804e-05	0	0	0	0	4.254e-05	0	0.0002	3.84e-05	1	26028	rs753097353	1.842e-05	1.779e-05	1.537e-05	2.154e-05	8.644e-05	1.281e-05	1.089e-05	3.984e-05	2.802e-05	0	0	0	0	0	0	1.659e-05	1.717e-05	8.644e-05	6.597e-06	6.58e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	981.29	53	chr8	144435945	.	ACTC	A	981.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.392;DP=956;ExcessHet=0;FS=16.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=-0.561;SOR=0.352	GT:AD:DP:GQ:PL	0/1:24,26:50:99:995,0,922	18	0	1	0
chr9	894044	894044	A	G	exonic	DMRT1	.	nonsynonymous SNV	DMRT1:NM_001363767:exon3:c.A197G:p.N66S,DMRT1:NM_021951:exon3:c.A671G:p.N224S	.	0	1493	29	0	0	29	0.00961857	.	.	.	244090	Non-obstructive_azoospermia|not_provided	Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	.	0.0016	0.00239617	0.0026	0.0002	0.0012	0.0001	0.0011	0.0015	0.0033	0.0109	0.002348	363	154602	rs140506267	0.0018	0.0018	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0116	0.0001	0.0013	0.0047	5.038e-05	0.0016	0.0061	0.0010	0.0023	0.0124	0.0015	0.0015	0.0013	0.0017	0.0122	0.0013	0.0013	0.0097	0.0088	0.0003	0	0.0019	0.0075	0.0004	0.0014	0.0068	0.0011	0.0028	0.0122	0.001	0.78490	D	0.022	0.69154	D	0.979	0.59044	D	0.679	0.53442	P	0.000000	0.84330	D	0.000000	0.999518	0.47363	D	3.135	0.88152	M	1.84	0.43672	T	-3.78	0.75695	D	0.744	0.89020	-0.7551	0.57668	T	0.176	0.52115	T	10	0.01156497	0.00252	T	.	.	.	0.229	0.52916	.	.	0.587613165634	0.58436	0.33559741074806654	0.33472	0.638416995762	0.57562	0.658247947693	0.61158	T	0.610971	0.87670	D	-0.418298	0.01754	T	-0.363245	0.37677	T	0.0462759055615867	0.04833	T	0.936706	0.76258	D	0.5308503	0.68879	0.56086373	0.74592	0.5545526	0.70210	0.46176293	0.68746	-2.131	0.03719	T	0.2878324403040833	0.38403	0.126	0.37140	B	.;.	.;.	4.233463	0.64133	24.7	0.99889984710269808	0.96436	0.94620	0.61762	D	ALL	0.719920	0.67065	D	0.686505212860892	0.78749	6.934564	0.646738016627212	0.78370	6.862212	0.999999999985881	0.74766	0.520426	0.21595	0	0.573149	0.20659	1	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.92	4.78	0.60666	6.663000	0.74276	9.343000	0.80233	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.9324:0.0:0.0676:0.0	11.922	0.52081	940	0.13648	.;.	.	.	.	.	.	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	0.007049	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.007576	0.05263	4296.83	33	chr9	894044	.	A	G	4296.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.457;DP=926;ExcessHet=0.119;FS=1.792;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=1.25;SOR=0.797	GT:AD:DP:GQ:PL	0/1:88,74:162:99:1830,0,2275	17	0	2	0
chr9	6610195	6610195	T	C	exonic	GLDC	.	nonsynonymous SNV	GLDC:NM_000170:exon4:c.A632G:p.Y211C	Glycine encephalopathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	955882	Glycine_encephalopathy|not_provided	Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.320	0.0685843260265	7.7e-05	.	0.0002	0.0004	0.0004	0	0	5.135e-05	0	0.0004	7.76e-05	12	154602	rs139931025	3.568e-05	3.557e-05	3.002e-05	4.14e-05	0.0004	2.77e-05	2.509e-05	0.0002	0.0002	0.0004	4.533e-05	0	0	0	0	6.307e-06	3.321e-05	0.0003	5.257e-05	5.91e-05	3.854e-05	6.726e-05	0.0002	2.557e-05	1.83e-05	7.892e-05	5.588e-05	0.0002	0	6.545e-05	0	0	0	0	0	0	0	0.151	0.24564	T	0.166	0.30828	T	0.0	0.02946	B	0.006	0.12133	B	0.000155	0.49130	D	0.241301	0.80554	0.34569	D	-0.145	0.04423	N	-3.76	0.95561	D	-4.43	0.77554	D	0.365	0.40665	0.076	0.83737	D	0.675	0.88755	D	10	0.19413534	0.35212	T	0.068584	0.70491	D	0.320	0.64215	.	.	0.906135531604	0.90520	0.765307007448725	0.76479	0.0538137297912	0.05943	0.369851768017	0.20810	T	0.705098	0.91542	D	-0.123088	0.32621	T	-0.112862	0.62382	T	0.0763925998451153	0.09519	T	0.922608	0.76842	D	0.40094858	0.60798	0.19922951	0.43794	0.40094858	0.60798	0.19922951	0.43793	-6.395	0.49471	T	0.1961041321814488	0.25892	0.075	0.21353	B	.;.	.;.	2.203039	0.28101	17.68	0.88600264245079752	0.18105	0.92549	0.55973	D	AEFDBI	0.522521	0.54650	D	-0.559938609637775	0.20173	1.061524	-0.423783640413203	0.24301	1.330001	0.996045792155481	0.34489	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.579976	0.35079	0	.	.	5.38	3.0	0.33773	3.250000	0.51146	2.812000	0.34913	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.793000	0.37436	0.1259:0.0689:0.0:0.8052	7.605	0.27265	862	0.33134	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	666.33	33	chr9	6610195	.	T	C	666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=678;ExcessHet=0;FS=1.253;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.088;SOR=1.129	GT:AD:DP:GQ:PL	0/1:23,23:46:99:680,0,641	18	0	1	0
chr9	19126126	19126126	G	C	exonic	PLIN2	.	nonsynonymous SNV	PLIN2:NM_001122:exon3:c.C214G:p.L72V	.	432	1037	46	7	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	.	0.0048	0.00778754	0.0078	0.0007	0.0029	0	0.0003	0.0063	0.0100	0.0292	0.0069986	1082	154602	rs149124591	0.0049	0.0049	0.0040	0.0058	0.0279	0.0048	0.0048	0.0270	0.0266	0.0003	0.0032	0.0328	5.04e-05	0.0004	0.0206	0.0028	0.0072	0.0279	0.0039	0.0039	0.0037	0.0041	0.0269	0.0036	0.0035	0.0232	0.0218	0.0006	0	0.0041	0.0268	0	0.0003	0.0102	0.0039	0.0043	0.0269	0.003	0.78490	D	0.004	0.92824	D	0.974	0.57829	D	0.974	0.73157	D	0.001185	0.39899	N	0.221461	0.998758	0.45389	D	3.42	0.91902	M	2.47	0.14783	T	-2.37	0.61580	N	0.817	0.81261	-0.7969	0.55327	T	0.107	0.39051	T	10	0.010061443	0.00225	T	.	.	.	0.396	0.71084	.	.	0.659526208185	0.65667	0.7646046571490274	0.76409	0.252766109563	0.27842	0.538249135017	0.44198	T	0.349394	0.71725	T	-0.151012	0.28154	T	0.0305767	0.72315	D	0.0698357970993575	0.08628	T	0.978169	0.92312	D	0.2263921	0.45320	0.27991867	0.53964	0.2263921	0.45320	0.27991867	0.53963	-9.252	0.69305	D	.	.	0.193	0.46631	B	.;.;.;.	.;.;.;.	6.398484	0.95145	34	0.99827297879109511	0.90939	0.97207	0.73322	D	ALL	0.681205	0.64464	D	0.714991296709042	0.80615	7.333665	0.628639343559016	0.77029	6.601281	0.999999717361203	0.74766	0.645754	0.44609	0	0.672317	0.65289	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	5.54	3.37	0.37692	5.688000	0.67889	4.196000	0.42436	-0.198000	0.09030	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.152:0.0:0.848:0.0	13.145	0.58873	681	0.59854	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.005051	0.017663	0.002924	0.050000	0.017241	0.021341	0.034091	0.1316	6749.37	33	chr9	19126126	.	G	C	6749.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.803;DP=1092;ExcessHet=1.3;FS=1.104;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.99;SOR=0.789	GT:AD:DP:GQ:PL	0/1:76,57:133:99:1517,0,2166	14	0	5	0
chr9	20414312	20414312	-	CTG	exonic	MLLT3	.	nonframeshift insertion	MLLT3:NM_001286691:exon5:c.524_525insCAG:p.S187_T188insS,MLLT3:NM_004529:exon5:c.533_534insCAG:p.S190_T191insS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489057703	0.0011	0.0012	0.0010	0.0013	0.0066	0.0011	0.0011	0.0060	0.0057	0.0021	0.0018	0.0022	0.0066	0.0005	0.0018	0.0006	0.0017	0.0039	0.0034	0.0034	0.0035	0.0033	0.0063	0.0031	0.0030	0.0045	0.0039	0.0046	0	0.0037	0.0051	0.0024	0.0006	0.0070	0.0028	0.0049	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5204.47	34	chr9	20414312	.	A	ACTG	5204.47	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.485;DP=871;ExcessHet=1.3;FS=0.512;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=59.88;MQRankSum=0;QD=18.33;ReadPosRankSum=0.17;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,22:41:99:0|1:20414312_A_ACTG:830,0,714:20414312	17	0	2	0
chr9	34093402	34093402	G	A	exonic	DCAF12	.	nonsynonymous SNV	DCAF12:NM_015397:exon7:c.C908T:p.A303V	.	424	1081	16	1	0	18	0.00825688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	.	0.0002	0.00399361	0.0022	0	0.0008	0	0	0.0004	0.0022	0.0139	0.001934	299	154602	rs149115505	0.0010	0.0010	0.0006	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	5.974e-05	0.0002	3.826e-05	0	0	0.0019	0.0002	0.0011	0.0138	0.0006	0.0006	0.0003	0.0009	0.0133	0.0005	0.0005	0.0107	0.0097	4.811e-05	0	0.0005	0	0	0	0	0.0002	0	0.0133	0.007	0.59928	D	0.013	0.63109	D	0.633	0.40250	P	0.118	0.32088	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	-0.27	0.67367	T	-2.12	0.48184	N	0.921	0.92433	-0.4600	0.70067	T	0.276	0.64814	T	10	0.012073249	0.00261	T	.	.	.	0.471	0.76487	.	.	0.810726899296	0.80895	0.6850247409028064	0.68441	1.03043029366	0.75413	0.832992434502	0.87021	D	0.209426	0.56964	T	0.00687563	0.52599	T	0.248131	0.85529	D	0.0712406606931485	0.08824	T	0.960304	0.85063	D	0.2813473	0.51177	0.2866694	0.54676	0.2813473	0.51177	0.2866694	0.54675	-8.042	0.61356	D	.	.	0.817	0.78094	P	.	.	4.493645	0.70214	25.5	0.99857932726301568	0.93639	0.99295	0.94095	D	AEFDBI	0.909636	0.86652	D	0.533704854304489	0.69097	5.308765	0.627181203696604	0.76920	6.580939	0.999999999946936	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	9.225000	0.94383	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.868	0.88717	401	0.82673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.007576	0.02632	1280.33	41	chr9	34093402	.	G	A	1280.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.721;DP=779;ExcessHet=0;FS=2.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-1.55;SOR=0.924	GT:AD:DP:GQ:PL	0/1:69,55:124:99:1294,0,1795	18	0	1	0
chr9	34490387	34490389	GAA	-	exonic	DNAI1	.	nonframeshift deletion	DNAI1:NM_001281428:exon7:c.532_534del:p.E180del,DNAI1:NM_012144:exon7:c.520_522del:p.E176del	Ciliary dyskinesia, primary, 1, with or without situs inversus, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	240608	Kartagener_syndrome|Primary_ciliary_dyskinesia|DNAI1-related_disorder	MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244,Orphanet:98861|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	9.614e-05	0.0003	0.0002	0	2.997e-05	0.0011	0.0031	0.0003946	61	154602	rs1262472092	0.0003	0.0003	0.0002	0.0004	0.0038	0.0002	0.0002	0.0035	0.0033	0	0.0001	0	0.0002	0	0.0009	3.417e-05	0.0003	0.0038	0.0002	0.0002	5.141e-05	0.0003	0.0031	0.0001	9.698e-05	0.0019	0.0015	2.407e-05	0	0.0002	0	0.0002	0	0	7.351e-05	0	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005629	0.010638	0.002740	0.000000	0.000000	0.000000	0.006211	0.007634	0.02632	1611.29	36	chr9	34490386	.	TGAA	T	1611.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.281;DP=707;ExcessHet=0;FS=3.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.69;ReadPosRankSum=0.961;SOR=0.415	GT:AD:DP:GQ:PL	0/1:30,41:71:99:1625,0,1136	18	0	1	0
chr9	35295883	35295883	C	A	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001330653:exon8:c.C714A:p.D238E,UNC13B:NM_001371186:exon8:c.C714A:p.D238E,UNC13B:NM_001371189:exon8:c.C714A:p.D238E,UNC13B:NM_006377:exon8:c.C714A:p.D238E	.	435	1048	37	2	0	41	0.0191858	.	.	.	700991	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	0.0106	0.00479233	0.0084	0.0021	0.0074	0	0	0.0122	0.0167	0.0044	0.0081047	1253	154602	rs35199210	0.0096	0.0096	0.0096	0.0097	0.0333	0.0095	0.0094	0.0294	0.0280	0.0025	0.0102	0.0514	0	0.0002	0.0333	0.0097	0.0136	0.0040	0.0077	0.0077	0.0080	0.0073	0.0110	0.0073	0.0072	0.0097	0.0092	0.0019	0.0033	0.0110	0.0521	0.0006	9.434e-05	0.0102	0.0099	0.0170	0.0037	0.004	0.65419	D	0.171	0.33780	T	0.884	0.48618	P	0.138	0.33406	B	0.000984	0.40743	D	0.236533	0.972537	0.38954	D	2.35	0.67516	M	-1.98	0.85247	D	-0.37	0.14000	N	0.588	0.60833	-0.4719	0.69658	T	0.281	0.65299	T	10	0.0052330196	0.00114	T	.	.	.	0.145	0.38592	0.148	0.05138	0.660788651602	0.65794	0.19109466861837113	0.19027	0.263833591492	0.28942	0.610554933548	0.54395	T	0.016412	0.43235	T	-0.275902	0.11107	T	-0.159695	0.58380	T	0.0356482401155776	0.02920	T	0.89601	0.67171	D	0.08653681	0.20117	0.09496227	0.22500	0.08653681	0.20117	0.09496227	0.22500	-3.877	0.21958	T	.	.	0.263	0.65078	B	.;.;.;.	.;.;.;.	1.389786	0.18026	13.50	0.99145607044478112	0.53655	0.97075	0.72544	D	AEFBI	0.589649	0.58645	D	-0.393676163815362	0.25693	1.396658	-0.328153910817774	0.27193	1.507234	0.018091049775015	0.13020	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	1.96	0.25203	1.824000	0.38710	0.129000	0.15021	-0.231000	0.07715	1.000000	0.71638	0.944000	0.28851	0.993000	0.69303	0.0:0.7439:0.0:0.2561	12.280	0.54079	167	0.93508	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023666	0.025253	0.033967	0.014620	0.050000	0.017241	0.018293	0.015152	0.07895	6278.77	33	chr9	35295883	.	C	A	6278.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.726;DP=921;ExcessHet=0;FS=8.627;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.95;ReadPosRankSum=0.235;SOR=0.357	GT:AD:DP:GQ:PL	0/1:81,86:167:99:2251,0,2326	17	1	1	0
chr9	35704461	35704461	C	T	exonic	TLN1	.	nonsynonymous SNV	TLN1:NM_006289:exon45:c.G5918A:p.R1973H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.016461482313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.72224	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	2.13	0.19588	T	-3.75	0.71157	D	0.462	0.49874	-0.9621	0.38781	T	0.129	0.43787	T	10	0.5807212	0.65833	D	0.016461	0.37727	T	0.293	0.61272	0.8	0.91946	0.683924871329	0.68122	0.5709760217921663	0.57025	1.59054647758	0.88522	0.842984378338	0.88548	D	0.535844	0.84019	D	-0.0575709	0.43286	T	-0.320473	0.42524	T	0.995264291763306	0.87117	D	0.976002	0.91601	D	0.3648312	0.58200	0.2419462	0.49604	0.3648312	0.58201	0.2419462	0.49603	-10.976	0.79527	D	.	.	0.282	0.51515	B	.	.	5.347842	0.89711	31	0.99951421983649669	0.99944	0.92771	0.56505	D	AEFDGBCI	0.465613	0.51361	N	0.666019841221266	0.77410	6.669149	0.624562343371027	0.76728	6.54485	0.999999993994882	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	3.430000	0.52575	4.946000	0.46247	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9191:0.0:0.0809	11.752	0.51125	111	0.95468	Vinculin-binding site-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1201.33	47	chr9	35704461	.	C	T	1201.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=868;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=1.53;SOR=0.654	GT:AD:DP:GQ:PL	0/1:118,54:172:99:1215,0,3115	18	0	1	0
chr9	66986995	66986995	T	C	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.A3503G:p.K1168R	.	429	1077	14	2	0	18	0.00828729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00429452669895	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs565889169	0.0008	0.0008	0.0005	0.0010	0.0083	0.0007	0.0007	0.0078	0.0076	0	0.0005	0	0	0	0.0039	0.0003	0.0008	0.0083	0.0003	0.0004	0.0003	0.0003	0.0072	0.0002	0.0002	0.0052	0.0045	2.665e-05	0	0.0003	0	0	0	0	0.0001	0.0005	0.0072	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.03502	.	.	.	.	.	.	.	0.07321933	0.11035	T	.	.	.	.	.	.	.	.	.	0.0417573156486076	0.04120	.	.	.	.	.	0.001858	0.01270	T	.	.	.	.	.	.	.	.	.	0.548145	0.18826	T	.	.	.	.	.	.	.	.	-3.137	0.11726	T	.	.	0.086	0.10594	B	.	.	-0.155796	0.03325	0.581	.	.	.	.	.	.	0.010708	0.00081	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.145000	0.10248	-15.955000	0.00333	0.232000	0.18153	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	5169.79	37	chr9	66986995	.	T	C	5169.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.594;DP=1328;ExcessHet=0.3672;FS=32.074;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=34.6;MQRankSum=-1.668;QD=9.13;ReadPosRankSum=-0.716;SOR=2.24	GT:AD:DP:GQ:PL	0/1:123,82:205:99:1809,0,3342	16	0	3	0
chr9	69325415	69325415	C	T	exonic	FAM189A2	.	nonsynonymous SNV	FAM189A2:NM_001347995:exon1:c.C106T:p.P36S	.	947	572	1	2	0	5	0.00435161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs865991386	0.0001	0.0001	0.0001	0.0002	0.0117	0.0001	0.0001	0.0079	0.0067	0.0004	0	0	0	0	0.0117	0.0001	0.0005	0.0002	0.0004	0.0004	0.0003	0.0005	0.0017	0.0003	0.0003	0.0012	0.0010	7.309e-05	0	0.0017	0	0	0	0	0.0003	0.0020	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998123	0.22338	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1070337	0.19863	T	.	.	.	.	.	.	.	.	.	0.38841939454104624	0.38756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374163	0.08891	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11124	B	.	.	2.083193	0.26494	17.14	0.95428553047934306	0.26917	0.01638	0.05273	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999958536621728	0.48110	0.11394	0.02926	0	0.085267	0.02369	0	0.063335	0.01812	2	0.166187	0.04126	0	0.0885804	0.20043	2.62	1.66	0.23081	0.264000	0.18264	1.179000	0.24681	0.161000	0.17719	0.078000	0.22289	1.000000	0.68203	0.036000	0.13842	0.0:0.7904:0.2096:0.0	10.013	0.41166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	295.03	10	chr9	69325415	.	C	T	295.03	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.428;DP=247;ExcessHet=0;FS=0;InbreedingCoeff=-0.0565;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=18.44;ReadPosRankSum=-0.68;SOR=0.593	GT:AD:DP:GQ:PL	0/1:5,11:16:99:308,0,122	17	0	1	1
chr9	76709330	76709330	C	T	exonic	PRUNE2	.	nonsynonymous SNV	PRUNE2:NM_001308047:exon8:c.G2944A:p.E982K,PRUNE2:NM_001308048:exon8:c.G2944A:p.E982K,PRUNE2:NM_015225:exon8:c.G2944A:p.E982K	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	.	0.00459265	0.0020	0.0002	8.642e-05	0.0046	0.0036	0.0002	0.0033	0.0092	0.0017852	276	154602	rs118189322	0.0010	0.0010	0.0008	0.0012	0.0114	0.0010	0.0010	0.0106	0.0102	0.0002	8.944e-05	0	0.0114	0.0024	0.0005	8.634e-05	0.0015	0.0082	0.0010	0.0010	0.0007	0.0012	0.0102	0.0008	0.0008	0.0079	0.0071	0.0002	0	0	0	0.0087	0.0029	0	0.0002	0.0009	0.0102	0.001	0.78490	D	0.115	0.37173	T	0.997	0.70673	D	0.557	0.49454	P	0.002971	0.35639	N	0.198349	0.99878	0.21910	N	2.19	0.61577	M	0.35	0.58323	T	-1.61	0.38734	N	0.299	0.33796	-0.9324	0.43785	T	0.146	0.47092	T	10	0.00658679	0.00149	T	.	.	.	0.208	0.49714	.	.	0.643868762646	0.64092	0.2689516218877152	0.26808	0.411892521782	0.41935	0.396815121174	0.24626	T	0.08532	0.44288	T	-0.352243	0.04587	T	-0.272635	0.47552	T	0.0335741014059899	0.02566	T	0.89801	0.64352	D	0.17824136	0.38833	0.14963341	0.35322	0.17824136	0.38833	0.14963341	0.35321	-3.772	0.20387	T	.	.	0.125	0.26482	B	.;.;.	.;.;.	3.119155	0.42106	21.5	0.99839003265002135	0.91972	0.70611	0.34662	D	AEFDBHCIJ	0.288087	0.40007	N	0.0614622174832879	0.44671	2.736955	0.0973754938735817	0.44417	2.723821	0.999998186097803	0.74766	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	6.04	6.04	0.98025	3.855000	0.55666	4.036000	0.41382	0.599000	0.40250	0.866000	0.30720	0.999000	0.35428	0.014000	0.10232	0.0:0.9302:0.0:0.0698	13.733	0.62284	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	3765.33	106	chr9	76709330	.	C	T	3765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=2382;ExcessHet=0;FS=2.331;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=-0.453;SOR=0.538	GT:AD:DP:GQ:PL	0/1:89,134:223:99:3779,0,2101	18	0	1	0
chr9	78236504	78236504	G	A	exonic	CEP78	.	nonsynonymous SNV	CEP78:NM_001098802:exon1:c.G154A:p.G52R,CEP78:NM_001330691:exon1:c.G154A:p.G52R,CEP78:NM_001330693:exon1:c.G154A:p.G52R,CEP78:NM_001330694:exon1:c.G154A:p.G52R,CEP78:NM_001349838:exon1:c.G154A:p.G52R,CEP78:NM_001349839:exon1:c.G154A:p.G52R,CEP78:NM_001349840:exon1:c.G154A:p.G52R,CEP78:NM_032171:exon1:c.G154A:p.G52R	Cone-rod dystrophy and hearing loss, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0119783064699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.11882	T	0.244	0.24123	T	0.039	0.42056	B	0.007	0.33616	B	0.970704	0.07776	N	1.017020	1	0.08975	N	1.04	0.26193	L	2.81	0.10975	T	0.36	0.04694	N	0.092	0.07125	-0.9581	0.39534	T	0.015	0.06282	T	10	0.101070315	0.18444	T	0.011978	0.30135	T	0.065	0.18881	0.515	0.61459	0.222439326576	0.21863	0.4778262108120082	0.47702	0.0187321088637	0.01823	0.518076300621	0.41355	T	0.022088	0.17090	T	-0.320878	0.06825	T	-0.698696	0.05898	T	0.107541109145005	0.13167	T	0.754824	0.38090	T	0.038387742	0.05105	0.076546945	0.16964	0.038387742	0.05105	0.076546945	0.16963	-7.347	0.56529	T	0.1374730396223694	0.15128	0.187	0.49412	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.402367	0.07734	4.416	0.95566031868702139	0.27250	0.05299	0.11145	N	ALL	0.077840	0.15692	N	-0.775655556519952	0.13946	0.6908468	-0.813340404191885	0.14173	0.7391696	0.99999979111401	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.03	-1.24	0.08948	-0.499000	0.06494	-2.361000	0.03851	-0.124000	0.13482	0.000000	0.06391	0.000000	0.08366	0.115000	0.18958	0.0792:0.4024:0.4039:0.1145	6.115	0.19342	971	0.05719	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1328.33	78	chr9	78236504	.	G	A	1328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.877;DP=1184;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.252;SOR=0.767	GT:AD:DP:GQ:PL	0/1:62,58:120:99:1342,0,1500	18	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	14305.3	565	chr9	92080918	.	G	C	14305.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.988;DP=7105;ExcessHet=38.2876;FS=417.684;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.11;SOR=15.946	GT:AD:DP:GQ:PL	0/1:228,163:404:99:1281,0,3798	1	0	18	0
chr9	93257029	93257029	C	A	exonic	WNK2	.	nonsynonymous SNV	WNK2:NM_001282394:exon10:c.C2272A:p.H758N,WNK2:NM_006648:exon10:c.C2272A:p.H758N	.	425	1096	1	0	0	1	0.000455996	.	.	.	701093	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.047	.	0.0061	0.00279553	0.0053	0.0022	0.0055	0.0002	0.0020	0.0077	0.0064	0.0015	0.0047024	727	154602	rs41278262	0.0094	0.0094	0.0098	0.0090	0.0113	0.0093	0.0092	0.0111	0.0111	0.0012	0.0043	0.0024	0.0002	0.0013	0.0023	0.0113	0.0097	0.0015	0.0056	0.0056	0.0059	0.0052	0.0092	0.0052	0.0051	0.0086	0.0083	0.0021	0.0121	0.0063	0.0032	0	0.0005	0.0068	0.0092	0.0024	0.0010	0.164	0.51853	T	0.33	0.18560	T	0.0	0.02946	B	0.0	0.04355	B	0.244535	0.15640	N	0.618249	1	0.23905	N	2.25	0.63811	M	1.9	0.68616	T	-2.36	0.62343	N	0.444	0.48227	-1.0355	0.18700	T	0.082	0.32266	T	10	0.004042715	0.00079	T	.	.	.	0.086	0.25016	.	.	0.260580752073	0.25663	0.1045724847074728	0.10387	0.152443170425	0.17205	0.431066960096	0.29354	T	0.088745	0.38225	T	-0.449631	0.01135	T	-0.405666	0.32727	T	0.0123801078313817	0.00202	T	0.552145	0.26116	T	0.23593333	0.46436	0.17842396	0.40510	0.22124769	0.44697	0.17124397	0.39292	-4.423	0.29867	T	.	.	0.076	0.13080	B	.;.;.	.;.;.	1.002572	0.13811	10.36	0.73932129304069227	0.10508	0.17513	0.19869	N	AEFDBI	0.140367	0.26224	N	-0.698168665429036	0.16073	0.8157437	-0.76811386551051	0.15278	0.8027211	0.993129822727322	0.33094	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.94	3.07	0.34476	1.516000	0.35463	3.320000	0.37537	0.599000	0.40250	0.002000	0.15269	0.962000	0.29361	0.042000	0.14466	0.1466:0.7125:0.1409:0.0	10.946	0.46514	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	1	0	0	0	0	1	0	0.002523	0.010204	0.000000	0.000000	0.000000	0.008621	0.003067	0.003788	0.02632	509.33	35	chr9	93257029	.	C	A	509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.695;DP=658;ExcessHet=0;FS=5.002;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.077;SOR=0.365	GT:AD:DP:GQ:PL	0/1:16,21:37:99:523,0,428	18	0	1	0
chr9	104526806	104526806	A	T	exonic	OR13C4	.	nonsynonymous SNV	OR13C4:NM_001001919:exon1:c.T404A:p.I135N	.	421	1100	1	0	0	1	0.000454339	.	.	.	3366992	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.00930880464173	0.0002	0.000199681	0.0003	0	0	0	0.0002	0.0002	0	0.0011	0.0002652	41	154602	rs141868239	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0007	0.0007	2.987e-05	2.236e-05	0.0031	0	1.872e-05	0.0003	6.385e-05	0.0003	0.0009	0.0001	0.0001	0.0001	0.0001	0.0004	9.142e-05	7.699e-05	7.299e-05	3.032e-05	2.405e-05	0	0	0.0032	0	0.0003	0	4.409e-05	0.0005	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.982	0.60036	D	0.849	0.60615	P	0.006283	0.32136	N	0.138558	0.837762	0.28673	N	3.105	0.87672	M	4.42	0.02177	T	-6.47	0.91479	D	0.541	0.56833	-1.1091	0.03148	T	0.029	0.12234	T	10	0.11351484	0.21328	T	0.009309	0.24436	T	0.059	0.16972	.	.	0.63623802299	0.63324	0.3762983365719593	0.37543	0.0441939372007	0.04768	0.278370380402	0.07266	T	0.038504	0.24863	T	-0.415172	0.01837	T	-0.44713	0.28014	T	0.298877268189024	0.24957	T	0.769523	0.39899	T	0.6546186	0.75610	0.6614505	0.80161	0.6546186	0.75611	0.6614505	0.80162	-8.426	0.63938	D	.	.	0.355	0.56876	A	.	.	3.488252	0.48748	22.7	0.98993040677702471	0.49983	0.84078	0.43163	D	AEFBI	0.400220	0.47519	N	0.142855486353237	0.48473	3.059268	-0.0789674530223191	0.36260	2.107996	0.00617817106220788	0.11148	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.44	3.27	0.36580	2.911000	0.48472	1.887000	0.29491	0.686000	0.82685	0.789000	0.29582	0.460000	0.24998	0.027000	0.12703	0.8295:0.0:0.0:0.1705	8.695	0.33448	635	0.64580	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	.	.	.	.	.	.	.	.	0.02632	2541.33	34	chr9	104526806	.	A	T	2541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.601;DP=815;ExcessHet=0;FS=5.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.725;SOR=0.467	GT:AD:DP:GQ:PL	0/1:87,101:188:99:2555,0,2444	18	0	1	0
chr9	104694845	104694845	A	G	exonic	OR13D1	.	nonsynonymous SNV	OR13D1:NM_001004484:exon1:c.A424G:p.T142A	.	433	1035	54	0	0	54	0.0254237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0029	0.00539137	0.0056	0.0006	0.0030	0	0.0003	0.0034	0.0077	0.0246	0.0050323	778	154602	rs139937095	0.0039	0.0039	0.0031	0.0046	0.0233	0.0038	0.0038	0.0224	0.0221	0.0003	0.0023	0.0246	0	0.0002	0.0179	0.0022	0.0058	0.0233	0.0027	0.0027	0.0025	0.0030	0.0174	0.0025	0.0024	0.0144	0.0133	0.0005	0	0.0027	0.0308	0.0006	0	0.0034	0.0022	0.0052	0.0174	0.001	0.78490	D	0.061	0.45530	T	0.889	0.48869	P	0.46	0.46423	P	0.002207	0.37012	N	0.121018	1	0.08975	N	1.56	0.39490	L	4.45	0.02121	T	-4.85	0.81107	D	0.056	0.02759	-1.0109	0.26635	T	0.008	0.02926	T	10	0.0064913332	0.00147	T	.	.	.	0.043	0.11576	.	.	0.346768085243	0.34289	0.17119933839543708	0.17039	0.0913270158701	0.10314	0.211758986115	0.00888	T	0.006661	0.06088	T	-0.558641	0.00259	T	-0.556301	0.16727	T	0.0682928540585661	0.08410	T	0.577142	0.20757	T	0.453373	0.64255	0.6090316	0.77262	0.453373	0.64255	0.6090316	0.77263	-6.246	0.48293	T	.	.	0.088	0.11797	B	.;.	.;.	2.845789	0.37553	20.5	0.99637367300904922	0.76449	0.06597	0.12612	N	AEFDGI	0.071517	0.14241	N	-0.137321255061406	0.35777	2.059277	-0.253945567421244	0.29635	1.661925	3.58516400389856E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	3.75	0.42236	0.037000	0.13728	4.788000	0.44881	0.733000	0.85838	0.000000	0.06391	0.255000	0.23945	0.716000	0.34643	1.0:0.0:0.0:0.0	10.433	0.43603	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013609	0.010101	0.010870	0.008772	0.050000	0.008621	0.021472	0.015152	0.07895	7825.77	176	chr9	104694845	.	A	G	7825.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.228;DP=1544;ExcessHet=0;FS=1.97;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=59.89;MQRankSum=-0.143;QD=22.3;ReadPosRankSum=-0.322;SOR=0.814	GT:AD:DP:GQ:PL	1/1:0,171:171:99:5741,513,0	17	1	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1765	2677.08	37	chr9	106974250	.	T	C	2677.08	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.688;DP=2043;ExcessHet=2.0135;FS=235.068;InbreedingCoeff=-0.2261;MLEAC=6;MLEAF=0.176;MQ=60;MQRankSum=0;QD=2.93;ReadPosRankSum=1.51;SOR=11.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,35:147:99:0|1:106974250_T_C:382,0,3816:106974250	11	0	6	2
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N,ZNF462:NM_021224:exon9:c.G6811A:p.D2271N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0408367045235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	3.42	0.05507	T	-1.1	0.35991	N	0.785	0.79503	-1.1146	0.02703	T	0.065	0.26772	T	10	0.41275227	0.56336	T	0.040837	0.59597	D	0.240	0.54500	0.441	0.49648	0.138757226776	0.13463	0.7163974984860814	0.71582	1.77884305262	0.91374	0.91669100523	0.98061	D	0.018486	0.14891	T	-0.186331	0.22798	T	-0.505428	0.21785	T	0.864430676400788	0.51459	D	0.975002	0.91107	D	0.1619377	0.36236	0.1629017	0.37816	0.1619377	0.36236	0.1629017	0.37816	-10.165	0.76340	D	.	.	0.990	0.93507	P	.;.;.	.;.;.	5.368506	0.90010	31	0.99920868308788402	0.98721	0.99180	0.92409	D	AEFBI	0.912600	0.87345	D	0.658390178150991	0.76912	6.574868	0.70769665526324	0.82963	7.898997	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	861.73	45	chr9	106974252	.	G	A	861.73	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.021;DP=1244;ExcessHet=0.3672;FS=197.718;InbreedingCoeff=-0.09;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=1.32;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,35:147:99:0|1:106974250_T_C:382,0,3816:106974250	17	0	2	0
chr9	109436926	109436926	G	A	exonic	PTPN3	.	nonsynonymous SNV	PTPN3:NM_001145369:exon4:c.C239T:p.A80V,PTPN3:NM_001145370:exon4:c.C239T:p.A80V,PTPN3:NM_001145368:exon9:c.C632T:p.A211V,PTPN3:NM_002829:exon9:c.C632T:p.A211V	.	.	.	.	.	.	.	.	.	.	.	171457	Prostate_cancer	Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.686	0.0929550351531	.	0.000399361	4.945e-05	0.0002	0	0	0	0	0	0.0002	5.17e-05	8	154602	rs193920798	2.873e-05	2.873e-05	1.906e-05	3.85e-05	0.0004	2.152e-05	1.908e-05	0.0003	0.0003	0	4.472e-05	0	0	0	0	2.698e-06	1.656e-05	0.0004	3.94e-05	3.937e-05	2.57e-05	5.372e-05	0.0002	1.715e-05	1.129e-05	5.282e-05	2.834e-05	4.812e-05	0	0.0002	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.625	0.41611	L	-1.24	0.78967	T	-2.79	0.60029	D	0.845	0.84090	0.179	0.85558	D	0.584	0.85043	D	10	0.7019973	0.72502	D	0.092955	0.75986	D	0.686	0.88538	.	.	0.899016730035	0.89801	0.7610677046574713	0.76054	0.846325172495	0.68325	0.803606331348	0.82513	D	0.459921	0.93345	T	0.0490063	0.58214	T	0.154584	0.80472	D	0.564335076008328	0.35019	D	0.957604	0.84537	D	0.66304654	0.76062	0.5889072	0.76152	0.66304654	0.76063	0.5889072	0.76152	-8.194	0.62452	D	.	.	0.685	0.72328	P	.;.;.;.	.;.;.;.	5.352151	0.89774	31	0.99925235190073503	0.99042	0.97667	0.76276	D	AEFBI	0.834528	0.75257	D	0.796660502611905	0.85897	8.715374	0.798957528819169	0.89722	10.09311	0.99999999990797	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	8.236000	0.89751	11.705000	0.94560	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.0:1.0:0.0	18.870	0.92282	836	0.38045	.;.;FERM central domain|Band 4.1 domain|FERM conserved site|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM conserved site|FERM domain|Band 4.1 domain|FERM central 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	.	.	.	.	.	.	.	.	0.02632	979.33	45	chr9	109436926	.	G	A	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.489;DP=765;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=-1.345;SOR=0.653	GT:AD:DP:GQ:PL	0/1:65,47:112:99:993,0,1444	18	0	1	0
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_001136562:exon2:c.G815C:p.R272T,PALM2AKAP2:NM_001198656:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_007203:exon8:c.G1508C:p.R503T,PALM2AKAP2:NM_147150:exon8:c.G1508C:p.R503T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	885.98	94	chr9	110137052	.	G	C	885.98	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.727;DP=1351;ExcessHet=1.3;FS=149.897;InbreedingCoeff=-0.3039;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.02;SOR=9.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,20:89:99:0|1:110137052_G_C:195,0,2565:110137052	7	0	5	7
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_001136562:exon2:c.G817A:p.A273T,PALM2AKAP2:NM_001198656:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_007203:exon8:c.G1510A:p.A504T,PALM2AKAP2:NM_147150:exon8:c.G1510A:p.A504T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0262409829576	.	.	1.678e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777202417	6.173e-06	6.157e-06	8.191e-06	4.136e-06	0.0002	2.91e-06	2.1e-06	0.0001	7.819e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.084	0.42976	T	0.873	0.70673	P	0.461	0.78396	P	0.000361	0.45440	D	0.192211	0.554502	0.32161	D	1.95	0.52479	M	0.82	0.48142	T	-0.38	0.20145	N	0.196	0.26596	-0.6067	0.64540	T	0.231	0.59732	T	10	0.15551329	0.29309	T	0.026241	0.49161	D	0.058	0.16647	0.201	0.11522	0.606491963429	0.60334	0.1585652680794885	0.19118	0.413830099629	0.42075	0.353128492832	0.18382	T	0.05449	0.29740	T	-0.32145	0.06780	T	-0.414803	0.31673	T	0.136570181284112	0.15976	T	0.914109	0.69400	D	0.07271283	0.16195	0.093768194	0.22163	0.07271283	0.16195	0.093768194	0.22162	-5.913	0.46163	T	.	.	0.123	0.36653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.350669	0.46210	22.3	0.99576051814353395	0.72682	0.77969	0.38401	D	AEFBCIJ	0.274752	0.38987	N	0.18937847889013	0.50690	3.256583	0.211920241110118	0.50507	3.242088	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	735.86	94	chr9	110137054	.	G	A	735.86	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.926;DP=1423;ExcessHet=0.7564;FS=146.64;InbreedingCoeff=-0.1527;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=2.08;ReadPosRankSum=1.71;SOR=9.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,20:89:99:0|1:110137052_G_C:195,0,2565:110137052	16	0	1	2
chr9	112332824	112332824	G	A	exonic	PTBP3	.	nonsynonymous SNV	PTBP3:NM_001244898:exon1:c.C20T:p.P7L	.	430	1084	7	1	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	.	.	0.00678914	0.0056	0	0.0002	0	0	4.783e-05	0	0.0393	0.0045342	701	154602	rs528795752	0.0023	0.0023	0.0014	0.0033	0.0368	0.0023	0.0022	0.0357	0.0353	8.965e-05	4.474e-05	0	2.52e-05	0	0.0026	3.149e-05	0.0028	0.0368	0.0011	0.0011	0.0006	0.0016	0.0340	0.0010	0.0009	0.0298	0.0282	7.221e-05	0	0.0001	0	0	0	0	0	0.0005	0.0340	0.0	0.91255	D	0.015	0.61642	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.55	0.79176	T	-0.48	0.15379	N	0.104	0.08786	-0.8983	0.48165	T	0.232	0.59867	T	8	0.0025268793	0.00038	T	.	.	.	0.125	0.34456	0.185	0.09388	0.410380932278	0.40655	0.27813221972302427	0.27726	0.138476855151	0.15614	.	.	.	0.008574	0.07868	T	-0.457493	0.01019	T	-0.401365	0.33226	T	0.0288982929121796	0.01823	T	0.535646	0.17968	T	.	.	.	.	.	.	.	.	-3.311	0.13879	T	.	.	0.09	0.16973	B	.;.	.;.	0.162223	0.05527	1.987	0.93551389905836591	0.23382	0.02016	0.06059	N	ALL	0.033652	0.04033	N	-1.10180431804324	0.06611	0.3048253	-1.24116442647048	0.05264	0.2503536	0.999999999999037	0.74766	0.524318	0.21684	1	0.218748	0.04544	0	0.231153	0.04653	2	0.56214	0.19341	0	.	.	3.36	-3.24	0.04779	-1.503000	0.02381	-1.633000	0.05020	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.4067:0.0:0.2662:0.3272	3.303	0.06579	851	0.35303	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	578.33	38	chr9	112332824	.	G	A	578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.843;DP=676;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-1.054;SOR=0.61	GT:AD:DP:GQ:PL	0/1:23,24:47:99:592,0,540	18	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.4	10786.3	429	chr9	122724732	.	T	C	10786.3	.	AC=12;AF=0.4;AN=30;BaseQRankSum=7.47;DP=5828;ExcessHet=11.1788;FS=27.147;InbreedingCoeff=-0.5846;MLEAC=14;MLEAF=0.467;MQ=58.23;MQRankSum=-15.38;QD=2.81;ReadPosRankSum=-6.896;SOR=4.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:284,54:338:99:0|1:122724732_T_C:1289,0,11533:122724732	3	0	12	4
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	7435.64	407	chr9	122724738	.	T	C	7435.64	.	AC=12;AF=0.375;AN=32;BaseQRankSum=2.09;DP=4871;ExcessHet=11.1788;FS=31.668;InbreedingCoeff=-0.551;MLEAC=13;MLEAF=0.406;MQ=58.35;MQRankSum=-16.61;QD=2.04;ReadPosRankSum=-6.486;SOR=5.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,43:309:99:0|1:122724732_T_C:1005,0,11040:122724732	4	0	12	3
chr9	124313941	124313941	G	A	exonic	NEK6	.	nonsynonymous SNV	NEK6:NM_001166167:exon4:c.G304A:p.A102T,NEK6:NM_001166168:exon4:c.G250A:p.A84T,NEK6:NM_001166169:exon4:c.G325A:p.A109T,NEK6:NM_001166170:exon4:c.G250A:p.A84T,NEK6:NM_014397:exon4:c.G250A:p.A84T,NEK6:NM_001145001:exon5:c.G352A:p.A118T,NEK6:NM_001166171:exon5:c.G352A:p.A118T	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0388923884493	.	.	0.0005	0	0	0	0	4.507e-05	0	0.0035	0.0003946	61	154602	rs779439151	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0028	0	0	0	0	0	0.0003	4.497e-06	0.0001	0.0033	0.0001	0.0001	1.285e-05	0.0002	0.0035	7.085e-05	5.742e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	0.153	0.35537	T	0.215	0.34124	T	0.884	0.63424	P	0.301	0.56676	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.545	0.13751	N	-0.13	0.64818	T	-1.99	0.49352	N	0.636	0.65930	-0.7044	0.60227	T	0.264	0.63544	T	10	0.0155367255	0.00326	T	0.038892	0.58494	D	0.210	0.50028	0.385	0.40460	0.512630703386	0.50903	0.3256785202131106	0.32480	1.44436016298	0.86026	0.762965381145	0.76372	T	0.058537	0.30870	T	-0.250373	0.14053	T	-0.13294	0.60724	T	0.221004778536906	0.21514	T	0.956904	0.83632	D	0.16315146	0.36438	0.2177159	0.46447	0.16315146	0.36437	0.2177159	0.46446	-8.946	0.68619	D	.	.	0.140	0.30791	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.607011	0.73027	25.9	0.99716446411121706	0.81703	0.99182	0.92439	D	AEFGBI	0.940922	0.94352	D	0.368296548533989	0.59713	4.15293	0.408869231678934	0.62115	4.421829	0.99999999999999	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	9.209000	0.94206	11.606000	0.93511	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.535000	0.29822	0.0:0.0:1.0:0.0	17.979	0.89057	594	0.68584	.;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;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;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;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1566.33	40	chr9	124313941	.	G	A	1566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.412;DP=754;ExcessHet=0;FS=1.478;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.939;SOR=0.659	GT:AD:DP:GQ:PL	0/1:53,64:117:99:1580,0,1168	18	0	1	0
chr9	125238999	125238999	T	C	exonic	HSPA5	.	nonsynonymous SNV	HSPA5:NM_005347:exon5:c.A938G:p.Y313C	.	419	1101	2	0	0	2	0.000907441	.	.	.	3274388	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.00885872273663	.	0.000199681	0.0002	0	0	0	0	3.006e-05	0	0.0016	0.0001876	29	154602	rs545601947	0.0001	0.0001	5.991e-05	0.0002	0.0017	9.403e-05	8.885e-05	0.0014	0.0014	0	0	0	2.519e-05	5.616e-05	0	5.397e-06	6.625e-05	0.0017	5.252e-05	5.249e-05	1.285e-05	9.399e-05	0.0012	2.555e-05	1.829e-05	0.0005	0.0004	2.404e-05	0	0	0	0	9.416e-05	0	0	0	0.0012	0.013	0.53900	D	0.046	0.49120	D	0.007	0.14184	B	0.014	0.16862	B	0.000028	0.55875	D	0.161085	0.923521	0.36749	D	.	.	.	2.91	0.10008	T	-3.41	0.67129	D	0.434	0.47301	-1.0535	0.13440	T	0.024	0.10239	T	10	0.028184682	0.00953	T	0.008859	0.23366	T	0.121	0.33580	0.412	0.44887	0.278043722374	0.27408	0.6938083611276417	0.69320	1.4171152166	0.85547	0.720081031322	0.70058	T	0.223875	0.58815	T	-0.466962	0.00888	T	-0.450798	0.27609	T	0.172097089241139	0.18722	T	0.865313	0.56401	D	0.8158379	0.84941	0.53136224	0.72921	0.8158379	0.84942	0.53136224	0.72922	-7.0	0.54034	T	.	.	0.086	0.10449	B	.	.	3.343650	0.46082	22.2	0.97667386774467202	0.35235	0.89306	0.49691	D	AEFBHCI	0.613991	0.60148	D	-0.34310773767191	0.27526	1.510926	-0.265070633763098	0.29256	1.637723	0.999999294284355	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.657601	0.63696	0	.	.	4.29	-0.246	0.12380	3.241000	0.51074	0.955000	0.22950	0.665000	0.62972	1.000000	0.71638	0.915000	0.28207	0.998000	0.85391	0.7557:0.0:0.0:0.2443	9.730	0.39525	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1940.33	38	chr9	125238999	.	T	C	1940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=858;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.148;SOR=0.747	GT:AD:DP:GQ:PL	0/1:74,74:148:99:1954,0,1934	18	0	1	0
chr9	127707145	127707145	G	T	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G114T:p.K38N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0140273232826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.01	0.65728	D	0.968	0.56581	D	0.79	0.57710	P	0.039025	0.24217	N	0.404824	0.928062	0.27129	N	.	.	.	0.97	0.42502	T	-3.18	0.64478	D	0.231	0.25989	-0.9529	0.40468	T	0.124	0.42799	T	10	0.2047346	0.36675	T	0.014027	0.33868	T	0.051	0.14325	0.205	0.12076	0.352476196916	0.34857	0.5839400874069591	0.58323	0.440069081721	0.44022	.	.	.	0.276118	0.64869	T	-0.280822	0.10581	T	-0.641158	0.09584	T	0.847960948944092	0.49990	D	0.612539	0.23323	T	0.19740249	0.41603	0.14692236	0.34791	0.19740249	0.41603	0.14692236	0.34790	-11.355	0.81569	D	.	.	0.662	0.71411	P	.;.	.;.	2.619651	0.34042	19.52	0.99634342227389694	0.76264	0.25709	0.22779	N	AEFDGBCI	0.101029	0.20301	N	-0.182420340231527	0.33867	1.926345	-0.347634602073133	0.26583	1.469229	0.999985991372221	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	-0.0785	0.13048	0.297000	0.18856	0.054000	0.14040	0.649000	0.52879	0.541000	0.27275	0.449000	0.24943	0.445000	0.27784	0.3326:0.2731:0.3943:0.0	4.776	0.12549	268	0.89479	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05263	726.55	34	chr9	127707145	.	G	T	726.55	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.952;DP=983;ExcessHet=0.7564;FS=137.824;InbreedingCoeff=-0.1176;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=2.07;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,24:105:99:0|1:127707145_G_T:162,0,2663:127707145	17	0	2	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	3675.71	62	chr9	127707148	.	G	C	3675.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.183;DP=1556;ExcessHet=20.8569;FS=238.955;InbreedingCoeff=-0.7271;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=2.9;ReadPosRankSum=1.4;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,24:104:99:0|1:127707145_G_T:165,0,2642:127707145	5	0	12	2
chr9	128066975	128066975	C	T	exonic	NAIF1	.	nonsynonymous SNV	NAIF1:NM_197956:exon1:c.G127A:p.A43T	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00509239297742	0.0026	0.000998403	0.0031	0.0008	0.0019	0	0.0006	0.0048	0.0034	0.0015	0.0032018	495	154602	rs143478210	0.0044	0.0044	0.0045	0.0044	0.0053	0.0044	0.0043	0.0052	0.0051	0.0007	0.0019	0.0007	0	0.0008	0.0021	0.0053	0.0043	0.0018	0.0025	0.0025	0.0027	0.0021	0.0041	0.0022	0.0022	0.0037	0.0036	0.0009	0	0.0022	0.0023	0	0.0005	0	0.0041	0.0028	0.0012	0.254	0.16903	T	0.276	0.21947	T	0.031	0.20130	B	0.013	0.16460	B	0.000000	0.84330	D	0.051719	0.999849	0.49770	D	0.6	0.15550	N	.	.	.	-0.52	0.16187	N	0.196	0.21580	-1.0711	0.09173	T	0.070	0.28445	T	9	0.0072960556	0.00166	T	0.005092	0.12908	T	0.041	0.10877	.	.	0.212008924253	0.20833	0.6562973301847608	0.65565	0.833681432274	0.67729	0.666677236557	0.62364	T	0.018635	0.14986	T	-0.424669	0.01598	T	-0.378639	0.35882	T	0.0591798481655424	0.07039	T	0.728927	0.34400	T	0.1776007	0.38735	0.25585455	0.51275	0.1776007	0.38734	0.25585455	0.51274	-6.186	0.47809	T	.	.	0.089	0.12371	B	.	.	3.431867	0.47700	22.5	0.99523084016120988	0.69346	0.90658	0.52018	D	AEFDGBCIJ	0.243239	0.36455	N	-0.326984694636836	0.28128	1.548838	-0.122076297032816	0.34501	1.985305	0.99999999966649	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.581474	0.35302	0	.	.	5.21	4.32	0.50899	3.535000	0.53331	5.966000	0.51911	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.752000	0.35857	0.0:0.8356:0.0:0.1644	9.255	0.36735	233	0.90919	Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	1756.33	40	chr9	128066975	.	C	T	1756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.494;DP=886;ExcessHet=0;FS=0.676;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.536;SOR=0.824	GT:AD:DP:GQ:PL	0/1:59,69:128:99:1770,0,1412	18	0	1	0
chr9	128203516	128203516	C	A	exonic	DNM1	.	unknown	UNKNOWN	Epileptic encephalopathy, early infantile, 31, Autosomal dominant	13	1488	21	0	0	21	0.00700701	.	.	.	369776	Developmental_and_epileptic_encephalopathy,_31A|Inborn_genetic_diseases|not_specified|not_provided	MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.521	.	0.0026	0.0279553	0.0335	0.0038	0.0587	0.1655	0.0035	0.0104	0.0149	0.0402	0.0127489	1971	154602	rs61757224	0.0076	0.0078	0.0071	0.0081	0.1047	0.0075	0.0074	0.1017	0.1005	0.0009	0.0131	0.0004	0.1047	0.0011	0.0031	0.0038	0.0076	0.0273	0.0070	0.0071	0.0060	0.0081	0.0988	0.0067	0.0065	0.0917	0.0889	0.0011	0.0286	0.0054	0	0.0988	0.0007	0.0034	0.0037	0.0062	0.0271	0.019	0.51853	D	0.029	0.55341	D	0.012	0.16265	B	0.01	0.14941	B	0.010094	0.30071	N	0.315063	1	0.81001	D	2.68	0.78455	M	-4.26	0.97078	D	-1.64	0.39314	N	0.093	0.31478	-0.3636	0.73156	T	0.112	0.40052	T	10	0.0020967126	0.00030	T	.	.	.	0.521	0.79643	.	.	.	.	0.7578958498316064	0.75737	1.75258816871	0.91011	0.847831964493	0.89287	D	0.53455	0.83952	D	-0.276053	0.11091	T	-0.0725907	0.65442	T	0.0290570126467959	0.01845	T	0.933807	0.75196	D	0.27371824	0.50438	0.24311496	0.49748	0.28401318	0.51430	0.2125759	0.45731	-4.274	0.30797	T	0.5101791939494381	0.58403	0.262	0.49654	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.092953	0.41652	21.4	0.97068911465426433	0.32230	0.75356	0.36892	D	ALL	0.152075	0.27668	N	-0.224900301049422	0.32113	1.807713	-0.217760301003046	0.30899	1.743806	0.999999999999853	0.74766	0.455138	0.09556	0	0.606814	0.50340	0	0.504199	0.09095	0	0.56751	0.32155	0	.	.	4.78	1.87	0.24559	1.541000	0.35732	1.481000	0.26822	0.491000	0.22372	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.7444:0.0:0.2556	8.767	0.33868	359	0.84979	Dynamin, GTPase domain;.;.;.;Dynamin, GTPase domain;.;Dynamin, GTPase domain;.;Dynamin, GTPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005589	0.000000	0.002717	0.002941	0.000000	0.008621	0.003165	0.023077	0.02632	1170.33	36	chr9	128203516	.	C	A	1170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=724;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.602;SOR=0.602	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1184,0,898	18	0	1	0
chr9	131072789	131072789	C	T	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon19:c.C3371T:p.S1124F	Cortical malformations, occipital, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	134907	LAMC3-related_disorder|not_specified|Occipital_pachygyria_and_polymicrogyria|not_provided	.|MedGen:CN169374|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0095	0.00319489	0.0085	0.0022	0.0054	0	0.0114	0.0127	0.0081	0.0007	0.0073738	1140	154602	rs113259170	0.0094	0.0094	0.0094	0.0094	0.0106	0.0093	0.0092	0.0105	0.0104	0.0013	0.0057	0.0197	0	0.0068	0.0076	0.0106	0.0109	0.0008	0.0072	0.0072	0.0077	0.0067	0.0117	0.0069	0.0067	0.0111	0.0108	0.0016	0	0.0044	0.0202	0	0.0062	0.0068	0.0117	0.0114	0.0010	0.027	0.46513	D	0.056	0.46632	T	0.982	0.60036	D	0.839	0.60107	P	0.020825	0.26957	N	0.420127	0.722312	0.29910	N	2.25	0.63811	M	1.58	0.29085	T	-2.75	0.58407	D	0.601	0.61933	-0.8363	0.52891	T	0.119	0.41626	T	10	0.006035298	0.00136	T	.	.	.	0.085	0.24743	.	.	0.653879434346	0.65099	0.3203706677737109	0.31950	0.482670863814	0.47229	0.379210293293	0.22145	T	0.191222	0.54600	T	-0.516265	0.00462	T	-0.504961	0.21835	T	0.0296032382735943	0.01929	T	0.739426	0.35812	T	0.1953124	0.41315	0.21479674	0.46044	0.1953124	0.41315	0.21479674	0.46043	-6.779	0.52403	T	.	.	0.163	0.36012	B	.	.	4.388584	0.67704	25.1	0.99859115873559101	0.93729	0.77499	0.38111	D	AEFDGBCI	0.360704	0.45058	N	0.539469572555752	0.69442	5.357637	0.501496547831221	0.68092	5.172491	0.999999999547305	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.97	4.97	0.65419	2.975000	0.48972	7.603000	0.61629	0.599000	0.40250	0.967000	0.34061	1.000000	0.68203	0.276000	0.23917	0.0:1.0:0.0:0.0	15.361	0.74187	385	0.83500	.	.	.	.	.	.	Likely benign	0	0	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	0.007056	0.005102	0.009511	0.002924	0.000000	0.008621	0.009146	0.011364	0.05263	2163.83	36	chr9	131072789	.	C	T	2163.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.343;DP=829;ExcessHet=0.119;FS=2.118;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-0.843;SOR=0.935	GT:AD:DP:GQ:PL	0/1:33,39:72:99:1129,0,889	17	0	2	0
chr9	136286646	136286646	G	T	exonic	CCDC187	.	nonsynonymous SNV	CCDC187:NM_001291516:exon8:c.C1978A:p.P660T,CCDC187:NM_001378188:exon8:c.C2272A:p.P758T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.056e-06	1.272e-05	0	8.002e-06	0.0008	0	0	.	.	0	0	0	0	0	0.0008	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	0.05229	T	1.0	0.02496	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.04947	N	0.058	0.03392	.	.	.	.	.	.	.	0.040827066	0.02685	T	.	.	.	.	.	.	.	.	.	0.008967862894919874	0.00859	.	.	.	.	.	0.006646	0.06077	T	.	.	.	.	.	.	.	.	.	0.351465	0.07848	T	.	.	.	.	.	.	.	.	-3.565	0.18685	T	.	.	0.062	0.01348	B	.;.;.	.;.;.	-1.303941	0.00435	0.009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.744000	0.01931	-1.399000	0.05531	-0.746000	0.03629	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	618.33	54	chr9	136286646	.	G	T	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.356;DP=802;ExcessHet=0;FS=2.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=-1.05;SOR=0.468	GT:AD:DP:GQ:PL	0/1:46,26:72:99:632,0,1285	18	0	1	0
chr9	137169926	137169926	C	A	exonic	LRRC26	.	nonsynonymous SNV	LRRC26:NM_001013653:exon1:c.G18T:p.W6C	.	393	1127	2	0	0	2	0.000886525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.142707614301	.	.	0.0002	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs760990925	8.409e-06	1.984e-05	3.012e-06	1.397e-05	0.0001	4.51e-06	3.3e-06	7.706e-05	5.846e-05	0	0	0	0	0	0	0	1.843e-05	0.0001	1.313e-05	1.969e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	0	0	0.0002	0.02	0.49613	D	0.03	0.54159	D	0.582	0.38854	P	0.187	0.36167	B	0.893737	0.07312	N	1.065440	1	0.08975	N	0.345	0.11182	N	-0.28	0.67543	T	-0.35	0.12847	N	0.092	0.07125	-0.9391	0.42759	T	0.151	0.47856	T	10	0.08372113	0.13955	T	0.142708	0.82507	D	0.073	0.21317	0.395	0.42099	0.204665344411	0.20097	0.46696966431148007	0.46615	0.874967012048	0.69533	0.566347956657	0.48162	T	0.005653	0.05100	T	-0.148718	0.28514	T	-0.451399	0.27542	T	0.0838962526968675	0.10477	T	0.510149	0.16261	T	0.093952894	0.22078	0.067950994	0.14126	0.093952894	0.22078	0.067950994	0.14125	-2.943	0.09580	T	.	.	0.210	0.43721	B	.	.	1.757559	0.22356	15.59	0.69850461437535094	0.09105	0.05599	0.11503	N	AEFDGBCI	0.185858	0.31318	N	-0.979570441710066	0.09040	0.4262542	-1.0998590381572	0.07703	0.3757708	0.99999975654794	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.5	-0.416	0.11736	0.067000	0.14378	0.854000	0.22166	-0.367000	0.05470	0.000000	0.06391	0.017000	0.20586	0.001000	0.02609	0.1388:0.5234:0.3378:0.0	5.806	0.17704	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	.	.	.	.	.	.	.	.	0.02632	424.33	19	chr9	137169926	.	C	A	424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.442;DP=487;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.68;ReadPosRankSum=-0.806;SOR=0.673	GT:AD:DP:GQ:PL	0/1:9,15:24:99:438,0,215	18	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	3198.86	113	chr10	825249	.	T	C	3198.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.463;DP=2358;ExcessHet=31.086;FS=172.694;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.83;SOR=12.863	GT:AD:DP:GQ:PL	0/1:97,44:141:99:211,0,1636	2	0	17	0
chr10	13222107	13222107	G	C	exonic	UCMA	.	nonsynonymous SNV	UCMA:NM_001303119:exon3:c.C251G:p.T84S,UCMA:NM_001303118:exon4:c.C317G:p.T106S,UCMA:NM_145314:exon5:c.C413G:p.T138S	.	434	1081	7	0	0	7	0.00322729	.	.	.	2473313	Keratoconus	Human_Phenotype_Ontology:HP:0000563,MONDO:MONDO:0015486,MeSH:D007640,MedGen:C0022578,OMIM:PS148300	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.00286403676443	0.0057	0.000998403	0.0059	0.0011	0.0011	0	0.0095	0.0091	0.0067	0.0013	0.0056856	879	154602	rs140771568	0.0060	0.0060	0.0060	0.0061	0.0070	0.0059	0.0059	0.0069	0.0068	0.0007	0.0014	0.0021	0	0.0087	0.0017	0.0070	0.0044	0.0012	0.0047	0.0047	0.0045	0.0049	0.0079	0.0044	0.0043	0.0073	0.0071	0.0006	0	0.0015	0.0020	0.0002	0.0106	0	0.0079	0.0028	0.0017	0.006	0.61437	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.003732	0.34560	N	0.302491	0.998188	0.22304	N	0	0.06538	N	.	.	.	-1.35	0.33598	N	0.061	0.07535	-1.0396	0.17434	T	0.037	0.16029	T	9	0.005598396	0.00124	T	0.002864	0.06015	T	0.043	0.11576	0.223	0.14665	0.0401082797425	0.02173	0.4116392590489399	0.41079	0.0620596965443	0.06909	0.454357504845	0.32539	T	0.012903	0.11259	T	-0.624304	0.00103	T	-0.661584	0.08160	T	0.0106574809357241	0.00149	T	0.290471	0.05631	T	0.086814255	0.20192	0.06736811	0.13927	0.086814255	0.20192	0.06736811	0.13926	-2.333	0.04739	T	.	.	0.072	0.04316	B	.;.	.;.	1.395753	0.18093	13.54	0.88631434017753996	0.18130	0.57873	0.30491	D	AEFDI	0.140919	0.26296	N	-0.769953196771892	0.14097	0.6995254	-0.623501696876754	0.18890	1.011131	0.381824636041426	0.19968	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.05	2.65	0.30588	1.561000	0.35950	2.852000	0.35147	-0.060000	0.16637	1.000000	0.71638	0.960000	0.29291	0.746000	0.35646	0.8255:0.0:0.1745:0.0	7.717	0.27874	819	0.41190	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1688.33	34	chr10	13222107	.	G	C	1688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=748;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-1.092;SOR=0.691	GT:AD:DP:GQ:PL	0/1:64,66:130:99:1702,0,1582	18	0	1	0
chr10	14820082	14820082	C	G	exonic	CDNF	.	nonsynonymous SNV	CDNF:NM_001029954:exon4:c.G462C:p.W154C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.0178064388721	.	.	.	.	.	.	.	.	.	.	.	.	.	rs367910630	1.71e-05	1.71e-05	1.633e-05	1.788e-05	8.961e-05	1.174e-05	9.92e-06	2.375e-05	1.258e-05	8.961e-05	6.708e-05	0.0002	0	0	0	1.259e-05	0	0	1.314e-05	1.313e-05	2.57e-05	0	6.547e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	6.547e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-12.95	0.99858	D	0.77	0.76760	0.188	0.85709	D	0.560	0.83998	D	9	0.9212666	0.91480	D	0.017806	0.39652	T	0.614	0.84932	.	.	0.273503213844	0.26977	.	.	.	.	0.572284579277	0.49001	T	.	.	.	0.251485	0.78741	D	0.304992	0.88426	D	0.99704784154892	0.90642	D	0.89721	0.64041	D	.	.	.	.	.	.	.	.	-3.011	0.10300	T	.	.	0.902	0.82870	P	.	.	4.538737	0.71321	25.7	0.99152122144153654	0.53848	0.84180	0.43263	D	AEFGBHCI	0.834155	0.75226	D	0.929354866026811	0.93122	11.83507	0.892233268513845	0.95225	13.42399	1.0	0.98316	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.466023	0.07079	0	.	.	5.9	5.9	0.94952	7.105000	0.76675	5.862000	0.50443	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:1.0:0.0:0.0	19.054	0.93036	917	0.20147	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1118.33	37	chr10	14820082	.	C	G	1118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.879;DP=696;ExcessHet=0;FS=0.871;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-0.198;SOR=0.843	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1132,0,790	18	0	1	0
chr10	15214221	15214221	T	A	exonic	FAM171A1	.	nonsynonymous SNV	FAM171A1:NM_001010924:exon8:c.A1367T:p.D456V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.00624364402368	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921168013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.157	0.31730	T	0.031	0.20130	B	0.039	0.23607	B	0.000006	0.62929	D	0.107337	1	0.81001	D	1.355	0.33814	L	1.29	0.35775	T	-1.97	0.45587	N	0.21	0.23380	-1.0848	0.06444	T	0.062	0.25887	T	10	0.12726226	0.24200	T	0.006244	0.16376	T	0.106	0.30130	0.56	0.67958	0.043077524339	0.03247	0.48621118713119965	0.48541	0.399445563684	0.40968	0.388376951218	0.23441	T	0.028352	0.20559	T	-0.100507	0.36339	T	-0.382148	0.35470	T	0.339675039052963	0.26611	T	0.868113	0.56980	D	0.15907872	0.35754	0.106209636	0.25547	0.15907872	0.35753	0.106209636	0.25547	-3.639	0.18422	T	.	.	0.200	0.42317	B	.	.	2.508352	0.32389	19.03	0.96905283451834401	0.31554	0.91558	0.53781	D	AEFDBI	0.377111	0.46101	N	-0.218760121913524	0.32365	1.824422	-0.059574837302826	0.37079	2.166225	0.999988977550431	0.51787	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	2.824000	0.47789	6.146000	0.54124	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.115000	0.18958	0.1439:0.0:0.0:0.8561	10.556	0.44304	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2540.33	34	chr10	15214221	.	T	A	2540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.264;DP=888;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.82;SOR=0.615	GT:AD:DP:GQ:PL	0/1:97,99:196:99:2554,0,2482	18	0	1	0
chr10	16950060	16950060	G	A	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon34:c.C5021T:p.T1674M	Megaloblastic anemia-1, Finnish type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1493064	Imerslund-Grasbeck_syndrome|not_provided	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.00640240586645	.	.	1.681e-05	0	0	0	0	3.044e-05	0	0	1.29e-05	2	154602	rs747701083	2.463e-05	2.531e-05	2.723e-05	2.2e-05	0.0014	1.803e-05	1.6e-05	0.0007	0.0005	0	2.237e-05	0	0	1.873e-05	0.0014	1.979e-05	6.624e-05	0	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.075	0.34444	T	0.002	0.79402	D	0.993	0.65571	D	0.691	0.53831	P	0.042944	0.01913	N	2.230770	1	0.08975	N	1.59	0.40313	L	1.31	0.35405	T	-1.45	0.35597	N	0.235	0.26475	-0.9509	0.40816	T	0.094	0.35658	T	10	0.3998961	0.55493	T	0.006402	0.16841	T	0.093	0.26882	.	.	0.448399296293	0.44462	0.2521238859887243	0.25126	0.0961421984922	0.10851	0.289477020502	0.08846	T	0.073345	0.34674	T	-0.33952	0.05421	T	-0.569107	0.15532	T	0.444998115301132	0.30613	T	0.59884	0.22311	T	0.021152103	0.00703	0.03608001	0.02983	0.021152103	0.00703	0.03608001	0.02983	-7.063	0.54493	T	0.17853271694701947	0.22886	0.100	0.17016	B	.	.	1.943917	0.24691	16.49	0.99575104760723898	0.72621	0.08992	0.14835	N	AEFDBIJ	0.128351	0.24608	N	-0.510291240580358	0.21747	1.156345	-0.739841322349983	0.15972	0.8426985	0.99995258533028	0.48110	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	6.08	-4.43	0.03319	0.905000	0.28127	-1.133000	0.06232	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.1466:0.191:0.1579:0.5046	2.234	0.03759	774	0.48577	CUB domain|CUB domain|CUB domain|CUB 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	.	.	.	.	.	.	.	.	0.02632	2490.33	33	chr10	16950060	.	G	A	2490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.211;DP=832;ExcessHet=0;FS=11.904;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-1.121;SOR=0.485	GT:AD:DP:GQ:PL	0/1:95,103:198:99:2504,0,2343	18	0	1	0
chr10	19280171	19280171	G	T	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon20:c.G3204T:p.Q1068H	.	435	1069	17	1	0	19	0.00880853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	.	.	0.00439297	0.0124	0.0019	0.0067	0	0.0012	0.0165	0.0163	0.0149	0.0026455	409	154602	rs75389448	0.0102	0.0098	0.0101	0.0103	0.0159	0.0101	0.0100	0.0133	0.0123	0.0014	0.0042	0.0244	2.818e-05	0.0007	0.0159	0.0108	0.0110	0.0128	0.0071	0.0071	0.0072	0.0069	0.0145	0.0067	0.0066	0.0118	0.0108	0.0022	0.0274	0.0073	0.0282	0.0002	0.0003	0.0136	0.0097	0.0052	0.0145	0.112	0.28900	T	0.007	0.70582	D	.	.	.	.	.	.	.	.	.	.	0.997036	0.22815	N	.	.	.	-3.85	0.95859	D	-2.82	0.59545	D	0.558	0.58287	0.471	0.90138	D	0.786	0.92754	D	5	0.009454995	0.00213	T	.	.	.	0.505	0.78662	.	.	0.597897742083	0.59469	0.5834241005166534	0.58271	.	.	.	.	.	.	.	.	-0.210391	0.19324	T	-0.0639573	0.66053	T	0.0241980826449093	0.01171	T	0.566943	0.20077	T	0.06680292	0.14408	0.2154254	0.46132	0.06680292	0.14407	0.2154254	0.46131	-7.011	0.54114	T	.	.	0.207	0.48766	B	.;.	.;.	3.344621	0.46102	22.2	0.99680637092256863	0.79241	0.85297	0.44417	D	AEFI	0.225199	0.34932	N	-0.0493374536242523	0.39632	2.340	-0.0648164291914355	0.36855	2.150277	5.54155902284327E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	3.66	0.41111	2.171000	0.42080	5.523000	0.48827	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.2358:0.0:0.7642:0.0	9.029	0.35409	923	0.18507	Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3222.79	35	chr10	19280171	.	G	T	3222.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.813;DP=814;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.107;SOR=0.674	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1195,0,1194	16	0	3	0
chr10	48776882	48776882	C	T	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_001370153:exon16:c.C2996T:p.A999V,WDFY4:NM_020945:exon16:c.C2996T:p.A999V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0102984573355	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs568244681	8.002e-05	7.661e-05	7.754e-05	8.257e-05	9.546e-05	6.779e-05	6.339e-05	8.01e-05	7.48e-05	0	0	0	0	4.048e-05	0	9.546e-05	8.611e-05	2.524e-05	7.229e-05	7.224e-05	8.995e-05	5.38e-05	0.0002	3.972e-05	3.128e-05	9.047e-05	7.012e-05	0	0	0	0	0	0	0	0.0002	0	0	1.0	0.00964	T	0.011	0.64786	D	0.583	0.38873	P	0.084	0.29270	B	.	.	.	.	1	0.08975	N	0.085	0.08345	N	1.36	0.34452	T	0.39	0.03521	N	0.105	0.08925	-1.0919	0.05223	T	0.062	0.25887	T	8	0.02262935	0.00570	T	0.010298	0.26676	T	0.064	0.18567	.	.	0.0482279557977	0.04254	0.2825049225251241	0.28163	.	.	0.283111989498	0.07931	T	0.002702	0.02096	T	-0.378985	0.03162	T	-0.527116	0.19576	T	0.0514280919993041	0.05750	T	0.693931	0.30359	T	0.017369738	0.00267	0.05894437	0.10981	0.017369738	0.00267	0.05894437	0.10980	0.719	0.00173	T	.	.	0.120	0.24867	B	.	.	1.446716	0.18669	13.86	0.62362235076721606	0.06943	0.05383	0.11247	N	AEFDBI	0.092676	0.18759	N	-0.569406138276066	0.19879	1.04385	-0.573367781417775	0.20189	1.086575	0.999614528473475	0.40981	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	3.65	0.40985	2.143000	0.41811	3.361000	0.37860	-0.182000	0.10109	0.009000	0.18154	0.998000	0.33993	0.746000	0.35646	0.0:0.8482:0.0:0.1518	10.873	0.46106	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	.	.	.	.	.	.	.	.	0.02632	1600.33	33	chr10	48776882	.	C	T	1600.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.386;DP=756;ExcessHet=0;FS=1.384;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.25;SOR=0.826	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1614,0,1698	18	0	1	0
chr10	50127220	50127220	C	G	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon27:c.C2872G:p.Q958E	.	0	225	1	0	0	1	0.00221729	0.0095	0.134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.00532946976434	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422169188	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	0	0	0	0	0	0.0005	1.799e-06	0.0003	0.0050	0.0001	0.0001	5.138e-05	0.0002	0.0039	8.162e-05	6.719e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0	0.0039	0.006	0.61437	D	0.38	0.15988	T	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999997	0.81001	D	.	.	.	.	.	.	-1.45	0.35597	N	0.481	0.60749	-0.2375	0.76691	T	0.418	0.76436	T	9	0.18184459	0.33435	T	0.022315	0.45196	T	0.221	0.51721	0.462	0.53079	0.0675242888579	0.06100	0.3192546355987355	0.31838	.	.	0.59601354599	0.52342	T	0.049065	0.28200	T	-0.0491521	0.44577	T	-0.30838	0.43833	T	0.943087875843048	0.61790	D	0.845215	0.53896	T	0.5394785	0.69367	0.49470663	0.70776	0.5394785	0.69368	0.49470663	0.70776	-12.662	0.87923	D	.	.	0.326	0.54940	B	.;.	.;.	4.597798	0.72796	25.9	0.97699190156895999	0.35424	0.95349	0.64374	D	AEFI	0.640040	0.61788	D	0.454262893905163	0.64445	4.69926	0.349911790257911	0.58503	4.02108	0.0287512528943601	0.13849	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.76	3.76	0.42368	6.148000	0.71557	7.671000	0.64778	0.432000	0.20950	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	13.466	0.60707	878	0.29785	FAM21/CAPZIP domain;FAM21/CAPZIP 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	.	.	.	.	.	.	.	.	0.02632	2523.33	37	chr10	50127220	.	C	G	2523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.365;DP=879;ExcessHet=0;FS=6.228;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.4;MQRankSum=-1.81;QD=10.78;ReadPosRankSum=0.24;SOR=0.521	GT:AD:DP:GQ:PL	0/1:121,113:234:99:2537,0,2859	18	0	1	0
chr10	52251583	52251583	G	C	exonic	PRKG1	.	nonsynonymous SNV	PRKG1:NM_001098512:exon10:c.G1045C:p.A349P,PRKG1:NM_006258:exon10:c.G1090C:p.A364P	Aortic aneurysm, familial thoracic 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0119708549921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.023e-05	0.0003	3.282e-05	2.761e-05	3.525e-05	2.291e-05	2.041e-05	2.639e-05	2.317e-05	3.003e-05	0	0	0	0	0	3.525e-05	1.662e-05	3.484e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.15251	T	0.288	0.21144	T	0.167	0.28604	B	0.058	0.28532	B	0.000011	0.62929	D	0.114641	0.999121	0.81001	D	0	0.06538	N	-0.33	0.68329	T	-0.83	0.22727	N	0.414	0.47208	-0.9328	0.43725	T	0.162	0.49831	T	10	0.30753535	0.48255	T	0.011971	0.30115	T	0.159	0.41286	0.321	0.30064	0.324576393752	0.32066	0.9524779227595346	0.95231	0.819110548624	0.67075	0.782701611519	0.79336	T	0.263933	0.63566	T	0.017917	0.54100	T	-0.21204	0.53501	T	0.907704830169678	0.56207	D	0.955504	0.83071	D	0.87653315	0.89385	0.6861728	0.81546	0.87653315	0.89386	0.6861728	0.81547	-7.179	0.55330	T	0.10410051706711128	0.08104	0.857	0.80167	P	.;.;.;.	.;.;.;.	4.002256	0.58976	24.0	0.98901116092730812	0.48181	0.97233	0.73478	D	AEFBI	0.923468	0.89999	D	0.0294236492756106	0.43196	2.617364	0.291304482441213	0.55029	3.666609	0.999999975426614	0.74766	0.693126	0.56070	0	0.547309	0.14657	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	6.14	6.14	0.99173	7.252000	0.77731	11.902000	0.99384	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.414	0.99027	870	0.31527	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	33.4	34	chr10	52251583	.	G	C	33.4	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.296;DP=1512;ExcessHet=0.3672;FS=220.707;InbreedingCoeff=-0.0863;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.09;ReadPosRankSum=1.6;SOR=10.451	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:113,33:146:44:.:.:44,0,2609:.	15	0	3	1
chr10	53808924	53808924	C	G	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001354411:exon35:c.G5120C:p.S1707T	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0363480045367	.	.	8.813e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs768873162	1.13e-05	1.3e-05	8.379e-06	1.429e-05	0.0002	6.69e-06	5.41e-06	0.0001	9.224e-05	0	0	0	0	0	0	0	1.7e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.50676	D	0.297	0.29843	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	-0.27	0.67367	T	0.16	0.12661	N	0.162	0.17002	-0.9338	0.43575	T	0.144	0.46587	T	9	0.04319659	0.03143	T	0.036348	0.56932	D	0.099	0.28413	.	.	0.531873083431	0.52836	.	.	.	.	.	.	.	0.009363	0.08559	T	-0.460007	0.00983	T	-0.586165	0.13999	T	0.0228641170020077	0.01008	T	0.590441	0.21717	T	.	.	.	.	.	.	.	.	-3.448	0.15711	T	.	.	0.072	0.12985	B	.;.;.;.;.;.	.;.;.;.;.;.	0.391900	0.07635	4.300	0.74448843913456475	0.10699	0.00558	0.02546	N	AEFDHCI	0.037891	0.05280	N	-1.14600203690632	0.05845	0.2675748	-1.12148857799388	0.07290	0.3540624	0.00414537084316911	0.10434	0.55562	0.30534	0	0.615948	0.52940	0	0.68496	0.61776	0	0.564101	0.26826	0	.	.	5.46	1.33	0.20958	-0.348000	0.07789	1.641000	0.27792	-0.822000	0.02949	0.000000	0.06391	0.004000	0.18990	0.004000	0.06068	0.1442:0.2445:0.6113:0.0	8.314	0.31252	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3237.33	33	chr10	53808924	.	C	G	3237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=854;ExcessHet=0;FS=2.28;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.38;SOR=0.551	GT:AD:DP:GQ:PL	0/1:107,115:222:99:3251,0,2836	18	0	1	0
chr10	66928400	66928400	T	C	exonic	LRRTM3	.	nonsynonymous SNV	LRRTM3:NM_178011:exon2:c.T1484C:p.L495P	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.0210988579812	.	0.000199681	0.0003	0	0	0	0	7.589e-05	0	0.0020	0.0002523	39	154602	rs201365004	0.0002	0.0002	9.12e-05	0.0003	0.0022	0.0002	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	4.227e-05	0.0001	0.0022	0.0001	0.0001	2.571e-05	0.0002	0.0027	8.165e-05	6.722e-05	0.0016	0.0013	0	0	0	0	0	0	0	8.821e-05	0	0.0027	0.049	0.39820	D	0.107	0.37730	T	0.0	0.02946	B	0.0	0.01387	B	0.000082	0.51296	D	0.000000	1	0.81001	D	-0.205	0.04094	N	-0.97	0.75670	T	-0.6	0.17834	N	0.431	0.47022	-0.8834	0.49489	T	0.151	0.47874	T	10	0.017988771	0.00388	T	0.021099	0.43815	T	0.275	0.59130	.	.	0.429154209284	0.42533	0.7731615097493554	0.77266	0.981655826999	0.73759	0.798032104969	0.81664	T	0.010569	0.09530	T	-0.327767	0.06281	T	-0.250376	0.49780	T	0.122545568997862	0.14676	T	0.768023	0.39669	T	0.2250605	0.45160	0.550758	0.74024	0.2250605	0.45160	0.550758	0.74025	-4.356	0.28955	T	.	.	0.201	0.42535	B	.	.	4.449385	0.69149	25.3	0.99355314950070273	0.60779	0.91277	0.53210	D	AEFBI	0.659900	0.63066	D	-0.164161901340802	0.34633	1.979259	0.113143098201384	0.45218	2.789071	0.996674030646167	0.34917	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	5.93	5.93	0.95888	5.146000	0.64688	7.947000	0.75742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0773:0.0:0.9227	9.805	0.39954	949	0.11373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2050.33	35	chr10	66928400	.	T	C	2050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.255;DP=776;ExcessHet=0;FS=1.344;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.418;SOR=0.558	GT:AD:DP:GQ:PL	0/1:60,88:148:99:2064,0,1506	18	0	1	0
chr10	71739689	71739689	A	G	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_022124:exon34:c.A4405G:p.I1469V	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	1	1510	10	1	0	12	0.00395778	.	.	YES	174977	not_specified|Pituitary_adenoma_5,_multiple_types|Usher_syndrome_type_1|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D|Retinal_dystrophy	MedGen:CN169374|MONDO:MONDO:0054601,MedGen:C4539685,OMIM:617540|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|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,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.144	0.035690942362	.	0.000599042	0.0004	0	0.0002	0	0	0.0003	0.0012	0.0016	0.0003169	49	154602	rs200635365	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0002	0.0019	0.0015	0	0.0001	0	0	1.875e-05	0.0029	0.0001	0.0005	0.0011	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0001	0.0013	0.0010	0	0	6.539e-05	0	0	0	0	0.0003	0	0.0023	.	.	.	0.027	0.55341	D	0.128	0.27003	B	0.176	0.35644	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	0.885	0.21608	L	.	.	.	.	.	.	0.5	0.53269	-0.7132	0.59795	T	0.235	0.60160	T	9	0.019304395	0.00429	T	0.035691	0.56507	D	0.144	0.38394	.	.	0.850017294419	0.84857	0.2245403800194078	0.22369	.	.	0.560945689678	0.47401	T	0.009137	0.45127	T	-0.30903	0.07834	T	-0.262228	0.48601	T	0.0885264351963997	0.11041	T	0.788921	0.42853	T	0.40112287	0.60811	0.4002237	0.64565	0.40112287	0.60811	0.4002237	0.64565	-3.732	0.19791	T	.	.	0.118	0.24054	B	.;.	.;.	2.759777	0.36197	20.2	0.99508999767278417	0.68499	0.97613	0.75906	D	AEFDBI	0.826489	0.74597	D	0.126667730215805	0.47710	2.992875	0.275492533436706	0.54113	3.577243	0.999999999998536	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	6.182000	0.71929	9.290000	0.79784	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.648000	0.32638	1.0:0.0:0.0:0.0	15.900	0.79154	827	0.39843	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	1350.33	35	chr10	71739689	.	A	G	1350.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.932;DP=756;ExcessHet=0;FS=6.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.503;SOR=0.761	GT:AD:DP:GQ:PL	0/1:39,55:94:99:1364,0,1048	18	0	1	0
chr10	73428248	73428248	G	C	exonic	MSS51	.	nonsynonymous SNV	MSS51:NM_001024593:exon2:c.C37G:p.P13A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00429441812126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.21550	T	0.227	0.25362	T	0.02	0.18235	B	0.016	0.17743	B	0.808768	0.09267	N	0.907323	0.999992	0.08975	N	1.265	0.31966	L	0.93	0.44065	T	0.06	0.06253	N	0.203	0.22614	-1.0116	0.26416	T	0.075	0.30179	T	10	0.045121074	0.03546	T	0.004294	0.10404	T	0.012	0.01476	0.253	0.19223	0.202949470691	0.19918	0.25802454014866605	0.25716	0.115067041144	0.12980	0.247937843204	0.03554	T	4.47E-4	0.00152	T	-0.287672	0.09871	T	-0.650998	0.08885	T	0.0559113237793929	0.06509	T	0.612239	0.23293	T	0.032608062	0.03319	0.029849017	0.01368	0.032608062	0.03319	0.029849017	0.01368	-3.299	0.13724	T	.	.	0.060	0.01059	B	.;.	.;.	0.540929	0.09093	5.878	0.57972464420546976	0.05888	0.17893	0.20032	N	AEFBI	0.046171	0.07636	N	-0.925702353163552	0.10244	0.4885797	-0.973330088820512	0.10387	0.5227955	6.42020289937291E-5	0.04366	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.41	-0.521	0.11336	0.104000	0.15148	-0.155000	0.11380	-0.106000	0.15538	0.298000	0.25306	0.000000	0.08366	0.114000	0.18915	0.487:0.0:0.513:0.0	7.301	0.25593	823	0.40596	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05556	149.66	57	chr10	73428248	.	G	C	149.66	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.016;DP=806;ExcessHet=0.119;FS=49.14;InbreedingCoeff=-0.073;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=0.557;SOR=5.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,12:46:67:0|1:73428248_G_C:67,0,809:73428248	16	0	2	1
chr10	84513830	84513830	G	T	exonic	CCSER2	.	nonsynonymous SNV	CCSER2:NM_001284242:exon7:c.G988T:p.V330F,CCSER2:NM_001284240:exon10:c.G2707T:p.V903F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00658158728732	.	0.00119808	0.0017	0	0	0	0	0	0	0.0034	0.0002329	36	154602	rs565373126	0.0003	0.0002	0.0001	0.0004	0.0043	0.0002	0.0002	0.0039	0.0038	3.165e-05	0	0	2.798e-05	0	0	0	0.0002	0.0043	0.0002	0.0002	8.993e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0.0002	0	0	0	0	0.0054	0.055	0.38407	T	0.058	0.46182	T	0.773	0.44016	P	0.428	0.45338	B	.	.	.	.	1	0.24600	N	.	.	.	1.93	0.22881	T	-1.13	0.29114	N	0.283	0.32037	-1.0789	0.07563	T	0.077	0.30737	T	8	0.0066339076	0.00150	T	0.006582	0.17358	T	0.077	0.22490	0.09	0.01023	0.530160902827	0.52664	0.20552117678006387	0.20469	.	.	.	.	.	.	.	.	-0.499986	0.00572	T	-0.492445	0.23134	T	0.0522106903771824	0.05884	T	0.738626	0.35686	T	.	.	.	.	.	.	.	.	-3.445	0.15670	T	.	.	0.120	0.24700	B	.;.	.;.	2.454628	0.31615	18.79	0.98083778074135952	0.38133	0.76242	0.37378	D	AEFDGBCI	0.115547	0.22715	N	-0.0986822497817135	0.37449	2.178968	-0.0818022311187711	0.36142	2.099625	0.47213558986936	0.20716	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	6.04	4.21	0.48984	1.553000	0.35862	1.252000	0.25176	-0.106000	0.15538	0.999000	0.42656	0.693000	0.26187	0.995000	0.73285	0.1514:0.0:0.8486:0.0	10.905	0.46286	947	0.11584	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4448.83	33	chr10	84513830	.	G	T	4448.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.383;DP=994;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.808;SOR=0.691	GT:AD:DP:GQ:PL	0/1:95,99:194:99:2597,0,2568	17	0	2	0
chr10	86687073	86687073	G	A	exonic	LDB3	.	nonsynonymous SNV	LDB3:NM_001080116:exon5:c.G349A:p.D117N,LDB3:NM_001080114:exon6:c.G349A:p.D117N,LDB3:NM_001171610:exon6:c.G694A:p.D232N,LDB3:NM_001171611:exon6:c.G694A:p.D232N,LDB3:NM_001368066:exon6:c.G349A:p.D117N,LDB3:NM_001368067:exon6:c.G349A:p.D117N,LDB3:NM_001368068:exon6:c.G349A:p.D117N	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	1	1477	41	3	0	47	0.0156614	.	.	.	19772	Cardiovascular_phenotype|not_specified|not_provided|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy_4|Primary_dilated_cardiomyopathy	MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011094,MedGen:C1832244,OMIM:601493,Orphanet:154,Orphanet:54260|MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.272	.	0.0068	0.00778754	0.0046	0.0154	0.0047	0	0	0.0043	0.0078	0.0031	0.0042173	652	154602	rs121908338	0.0034	0.0034	0.0033	0.0036	0.0354	0.0033	0.0033	0.0314	0.0298	0.0170	0.0061	0.0101	2.519e-05	0.0001	0.0354	0.0028	0.0061	0.0026	0.0071	0.0071	0.0072	0.0070	0.0149	0.0067	0.0066	0.0140	0.0136	0.0149	0	0.0088	0.0092	0.0002	0.0002	0.0850	0.0032	0.0137	0.0033	0.018	0.55530	D	0.412	0.16328	T	0.004	0.41722	B	0.004	0.35687	B	.	.	.	.	0.0310938	0.81001	A	.	.	.	0.89	0.88847	T	-1.19	0.34596	N	0.462	0.63883	-0.5427	0.67062	T	0.220	0.58240	T	9	0.018208385	0.00394	T	.	.	.	0.272	0.58758	.	.	0.782186682139	0.78017	0.5485576590321062	0.54781	0.255360491483	0.28129	.	.	.	.	.	.	-0.375472	0.03326	T	-0.299792	0.44746	T	0.0266292465876057	0.01493	T	0.925707	0.72678	D	.	.	.	.	.	.	.	.	-4.356	0.32744	T	.	.	0.127	0.26917	B	.;.;.;.;.	.;.;.;.;.	2.734197	0.35793	19.99	0.99768232831970494	0.85666	0.99696	0.98747	D	AEFDBIJ	0.955079	0.97266	D	-0.143363625320167	0.35517	2.041124	0.0583927742227106	0.42479	2.570059	0.999999999991715	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.0	4.07	0.46726	6.872000	0.75336	7.421000	0.58716	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8521:0.1478	14.523	0.67449	893	0.26510	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049849	0.116162	0.072011	0.052632	0.000000	0.008621	0.009146	0.000000	0.05263	1992.83	34	chr10	86687073	.	G	A	1992.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.63;DP=741;ExcessHet=0.119;FS=4.143;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=1.06;SOR=0.382	GT:AD:DP:GQ:PL	0/1:19,35:54:99:982,0,470	17	0	2	0
chr10	89726322	89726324	TAT	-	exonic	KIF20B	.	nonframeshift deletion	KIF20B:NM_001382506:exon15:c.1818_1820del:p.I608del,KIF20B:NM_001284259:exon16:c.2031_2033del:p.I679del	.	448	1072	2	0	0	2	0.000931966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0027	0.0007	0	0	0.0006	0.0054	0.0043	0.0013	0.0005379	14	26028	rs545101501	0.0041	0.0040	0.0041	0.0041	0.0048	0.0040	0.0040	0.0047	0.0047	0.0008	0.0022	0.0021	0	0.0009	0.0016	0.0048	0.0031	0.0016	0.0028	0.0028	0.0031	0.0026	0.0047	0.0026	0.0025	0.0043	0.0041	0.0006	0.0044	0.0036	0.0020	0	0.0009	0.0068	0.0047	0.0019	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1298.29	34	chr10	89726321	.	ATAT	A	1298.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.125;DP=689;ExcessHet=0;FS=0.912;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.82;ReadPosRankSum=-0.129;SOR=0.545	GT:AD:DP:GQ:PL	0/1:35,34:69:99:1312,0,1367	18	0	1	0
chr10	98209399	98209399	A	G	exonic	R3HCC1L	.	nonsynonymous SNV	R3HCC1L:NM_001351016:exon2:c.A1285G:p.R429G,R3HCC1L:NM_001351013:exon3:c.A1285G:p.R429G,R3HCC1L:NM_001256620:exon4:c.A1285G:p.R429G,R3HCC1L:NM_001351012:exon4:c.A1285G:p.R429G,R3HCC1L:NM_001351017:exon4:c.A1285G:p.R429G,R3HCC1L:NM_014472:exon4:c.A1285G:p.R429G,R3HCC1L:NM_001256619:exon5:c.A1285G:p.R429G,R3HCC1L:NM_001351015:exon5:c.A1285G:p.R429G,R3HCC1L:NM_138469:exon5:c.A1285G:p.R429G,R3HCC1L:NM_001351011:exon6:c.A1285G:p.R429G,R3HCC1L:NM_001351014:exon6:c.A1285G:p.R429G,R3HCC1L:NM_001351010:exon7:c.A1285G:p.R429G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00102066701888	.	.	2.477e-05	0	0	0	0	4.503e-05	0	0	1.94e-05	3	154602	rs766343555	6.158e-06	6.156e-06	1.362e-06	1.1e-05	7.195e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	1.656e-05	0	6.572e-06	1.313e-05	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.43	0.09543	T	0.417	0.14284	T	0.0	0.02946	B	0.0	0.01387	B	0.054383	0.02060	N	1.902050	1	0.18198	N	0.77	0.19370	N	3.18	0.07478	T	-0.73	0.20576	N	0.056	0.02759	-1.0662	0.10269	T	0.017	0.06998	T	9	0.040986508	0.02714	T	0.001021	0.01120	T	0.022	0.04323	0.417	0.45709	0.141422826196	0.13715	0.04733784834141523	0.04676	0.0183222346549	0.01791	0.207748919725	0.00719	T	0.002224	0.01623	T	-0.513129	0.00482	T	-0.867193	0.00769	T	0.0254015118103888	0.01326	T	0.461754	0.13398	T	0.06574785	0.14082	0.05039574	0.07900	0.06574785	0.14081	0.05039574	0.07900	-2.154	0.03823	T	.	.	0.074	0.16756	B	.;.;.;.	.;.;.;.	-1.604118	0.00238	0.004	0.35071520874970907	0.02181	0.00829	0.03338	N	AEFGBI	0.024481	0.01522	N	-1.95707231354902	0.00261	0.01120232	-2.09986902394197	0.00187	0.008210614	0.999999999596431	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.38	-10.8	0.00171	-1.999000	0.01557	-0.879000	0.07072	-1.265000	0.01286	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2964:0.2658:0.4378:0.0	9.763	0.39708	767	0.49651	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	2292.33	123	chr10	98209399	.	A	G	2292.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.447;DP=927;ExcessHet=0;FS=7.452;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-0.741;SOR=1.174	GT:AD:DP:GQ:PL	0/1:66,79:145:99:2306,0,1906	18	0	1	0
chr10	98209741	98209741	G	C	exonic	R3HCC1L	.	nonsynonymous SNV	R3HCC1L:NM_001351016:exon2:c.G1627C:p.V543L,R3HCC1L:NM_001351013:exon3:c.G1627C:p.V543L,R3HCC1L:NM_001256620:exon4:c.G1627C:p.V543L,R3HCC1L:NM_001351012:exon4:c.G1627C:p.V543L,R3HCC1L:NM_001351017:exon4:c.G1627C:p.V543L,R3HCC1L:NM_014472:exon4:c.G1627C:p.V543L,R3HCC1L:NM_001256619:exon5:c.G1627C:p.V543L,R3HCC1L:NM_001351015:exon5:c.G1627C:p.V543L,R3HCC1L:NM_138469:exon5:c.G1627C:p.V543L,R3HCC1L:NM_001351011:exon6:c.G1627C:p.V543L,R3HCC1L:NM_001351014:exon6:c.G1627C:p.V543L,R3HCC1L:NM_001351010:exon7:c.G1627C:p.V543L	.	425	1058	39	0	0	39	0.0180974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0038	0.00379393	0.0038	0.0014	0.0050	0	0.0011	0.0052	0.0055	0.0017	0.003978	615	154602	rs148867373	0.0052	0.0052	0.0053	0.0051	0.0170	0.0051	0.0051	0.0143	0.0133	0.0017	0.0042	0.0100	2.52e-05	0.0012	0.0170	0.0058	0.0057	0.0020	0.0037	0.0037	0.0040	0.0034	0.0055	0.0034	0.0033	0.0050	0.0048	0.0011	0	0.0048	0.0078	0.0002	0.0018	0.0136	0.0055	0.0080	0.0008	0.01	0.56456	D	0.094	0.41239	T	0.029	0.19866	B	0.017	0.18140	B	0.278874	0.14983	N	0.624373	1	0.18198	N	2.455	0.71248	M	2.8	0.11082	T	-1.03	0.27052	N	0.051	0.02272	-1.0001	0.29888	T	0.013	0.05225	T	9	0.0033772886	0.00059	T	.	.	.	0.009	0.00846	0.165	0.06955	0.117506650769	0.11410	0.03523678591436901	0.03470	0.0179236615725	0.01753	0.29893258214	0.10242	T	0.017047	0.13973	T	-0.635718	0.00088	T	-0.681797	0.06875	T	0.00776321408992993	0.00091	T	0.776522	0.40874	T	0.02987695	0.02556	0.07009616	0.14850	0.02987695	0.02556	0.07009616	0.14850	-3.339	0.14245	T	.	.	0.137	0.31482	B	.;.;.;.	.;.;.;.	-0.093127	0.03683	0.745	0.81718824883297669	0.13825	0.06191	0.12176	N	AEFBI	0.044330	0.07119	N	-1.13936193443589	0.05956	0.2729676	-1.23120727583972	0.05416	0.2579731	0.995126147704923	0.33964	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.15	-2.64	0.05757	-0.466000	0.06749	-0.520000	0.08695	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.6126:0.0:0.3874:0.0	10.172	0.42093	767	0.49651	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.023666	0.015152	0.033967	0.032164	0.000000	0.051724	0.003049	0.007576	0.02632	1493.33	123	chr10	98209741	.	G	C	1493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.927;DP=1052;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-1.474;SOR=0.719	GT:AD:DP:GQ:PL	0/1:62,58:120:99:1507,0,1804	18	0	1	0
chr10	99235729	99235729	C	G	exonic	HPSE2	.	nonsynonymous SNV	HPSE2:NM_001166244:exon1:c.G74C:p.G25A,HPSE2:NM_001166245:exon1:c.G74C:p.G25A,HPSE2:NM_001166246:exon1:c.G74C:p.G25A,HPSE2:NM_021828:exon1:c.G74C:p.G25A	Urofacial syndrome 1, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.00893620246655	.	0.000199681	0.0002	9.814e-05	0	0	0	0	0	0.0012	0.0001423	22	154602	rs550903865	8.824e-05	8.893e-05	5.309e-05	0.0001	0.0014	7.555e-05	7.101e-05	0.0012	0.0011	0	2.236e-05	0	0	0	0.0003	1.799e-06	4.967e-05	0.0014	4.603e-05	4.594e-05	1.286e-05	8.072e-05	0.0012	2.111e-05	1.528e-05	0.0005	0.0004	0	0	6.543e-05	0	0	0	0	0	0	0.0012	1.0	0.00964	T	0.91	0.02961	T	0.001	0.13644	B	0.003	0.12133	B	0.005762	0.32522	N	0.252278	0.987598	0.24501	N	0	0.06538	N	7.27	0.00425	T	0.08	0.06026	N	0.226	0.29081	-0.9601	0.39162	T	0.001	0.00287	T	10	0.017368346	0.00370	T	0.008936	0.23559	T	0.185	0.45933	0.217	0.13788	0.183819452728	0.17975	0.46707013777892437	0.46626	0.175392714489	0.19744	0.472337424755	0.35001	T	0.150334	0.48976	T	-0.528828	0.00390	T	-0.56778	0.15653	T	0.0315200910286824	0.02229	T	0.834817	0.51030	T	0.045171548	0.07349	0.12109389	0.29219	0.045171548	0.07348	0.12109389	0.29218	-3.056	0.11000	T	.	.	0.056	0.01449	B	.;.;.;.;.	.;.;.;.;.	1.567766	0.20075	14.58	0.99176400423080668	0.54556	0.89311	0.49699	D	AEFDBCI	0.793614	0.72157	D	-0.349160827188076	0.27303	1.496898	-0.117028637088298	0.34704	1.999241	0.999991856895582	0.74766	0.443343	0.08805	1	0.563428	0.19063	0	0.666236	0.60216	0	0.530356	0.10902	0	.	.	5.8	4.69	0.58546	4.355000	0.59199	3.806000	0.39889	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8312:0.1688:0.0:0.0	11.615	0.50341	387	0.83408	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1915.33	35	chr10	99235729	.	C	G	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.649;DP=798;ExcessHet=0;FS=1.956;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.677;SOR=0.892	GT:AD:DP:GQ:PL	0/1:85,78:163:99:1929,0,2256	18	0	1	0
chr10	99388266	99388266	T	C	exonic	CNNM1	.	nonsynonymous SNV	CNNM1:NM_020348:exon9:c.T2639C:p.L880P,CNNM1:NM_001345887:exon10:c.T2702C:p.L901P	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0529983021522	0.0004	0.00139776	0.0013	0.0002	9.029e-05	0.0001	0	0.0002	0.0034	0.0083	0.0010931	169	154602	rs138832883	0.0006	0.0006	0.0004	0.0009	0.0088	0.0006	0.0006	0.0083	0.0081	2.987e-05	2.236e-05	0.0016	2.519e-05	0	0.0019	7.016e-05	0.0006	0.0088	0.0003	0.0003	0.0001	0.0004	0.0066	0.0002	0.0002	0.0048	0.0042	0	0	6.533e-05	0.0012	0	0	0	8.82e-05	0	0.0066	0.008	0.58626	D	0.161	0.31326	T	0.0	0.02946	B	0.0	0.01387	B	0.453184	0.12482	N	0.718644	0.999999	0.08975	N	1.245	0.31408	L	-1.92	0.84773	D	-0.36	0.13035	N	0.29	0.32812	-0.7968	0.55333	T	0.309	0.67931	T	10	0.0035519302	0.00064	T	0.052998	0.65293	D	0.047	0.12962	.	.	0.147330786459	0.14319	0.2549352564454432	0.25407	.	.	0.404342293739	0.25673	T	0.003406	0.02809	T	-0.380355	0.03100	T	-0.313581	0.43274	T	0.0100159268306949	0.00134	T	0.659534	0.26859	T	0.26436305	0.49503	0.243544	0.49800	0.26436305	0.49503	0.243544	0.49799	-3.301	0.13750	T	.	.	0.068	0.02927	B	.	.	1.782537	0.22660	15.71	0.93714172311033161	0.23633	0.28960	0.23695	N	AEFDBCI	0.178969	0.30625	N	-0.840153869566326	0.12293	0.5983167	-0.827759026247985	0.13824	0.7191829	0.998585864580615	0.37247	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.67	0.661	0.17044	1.256000	0.32524	1.329000	0.25656	0.665000	0.62972	0.732000	0.28943	0.719000	0.26340	0.272000	0.23818	0.0:0.1801:0.1646:0.6553	4.529	0.11399	555	0.71762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.022727	0.02632	2244.33	33	chr10	99388266	.	T	C	2244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.655;DP=807;ExcessHet=0;FS=3.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.703;SOR=0.455	GT:AD:DP:GQ:PL	0/1:89,89:178:99:2258,0,2294	18	0	1	0
chr10	102727043	102727043	T	C	exonic	SFXN2	.	nonsynonymous SNV	SFXN2:NM_178858:exon3:c.T218C:p.L73P,SFXN2:NM_001350989:exon4:c.T218C:p.L73P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	0.0881726139036	.	0.000399361	9.069e-05	0	0	0.0013	0	0	0	0	8.41e-05	13	154602	rs200997238	9.54e-05	9.645e-05	9.681e-05	9.396e-05	0.0034	8.228e-05	7.742e-05	0.0029	0.0028	0	0	0	0.0034	0	0	9.024e-07	4.993e-05	0	7.882e-05	7.875e-05	0.0001	5.373e-05	0.0023	4.495e-05	3.511e-05	0.0013	0.0010	0	0	0	0	0.0023	0	0	0	0	0	0.002	0.72154	D	0.005	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.575	0.93507	H	1.31	0.35405	T	-5.33	0.84601	D	0.985	0.99410	-0.3341	0.74014	T	0.290	0.66211	T	10	0.3907975	0.54876	T	0.088173	0.75081	D	0.683	0.88396	.	.	0.726949293181	0.72452	0.9708792472245789	0.97076	0.887879636192	0.70087	0.873781502247	0.93105	D	0.21088	0.57149	T	0.00417376	0.52228	T	0.176871	0.81815	D	0.717979192733765	0.41597	D	0.938406	0.77652	D	0.9800613	0.99114	0.9654967	0.99256	0.9800613	0.99114	0.9654967	0.99256	-14.723	0.95170	D	.	.	0.974	0.91951	P	.;.;.;.;.	.;.;.;.;.	5.282884	0.88704	29.7	0.99905143704506061	0.97576	0.97569	0.75610	D	AEFDBI	0.805522	0.73009	D	0.824989033861392	0.87641	9.28914	0.76106144260488	0.86981	9.06701	0.999999998728014	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.54	5.54	0.82907	6.235000	0.72283	7.898000	0.73400	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.671	0.77034	172	0.93355	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	734.33	34	chr10	102727043	.	T	C	734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.752;DP=670;ExcessHet=0;FS=3.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.821;SOR=1.009	GT:AD:DP:GQ:PL	0/1:24,27:51:99:748,0,578	18	0	1	0
chr10	103425101	103425101	G	A	exonic	PDCD11	.	nonsynonymous SNV	PDCD11:NM_014976:exon20:c.G2881A:p.D961N	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	.	7.7e-05	0.00259585	0.0017	9.621e-05	0	0.0230	0	0	0.0033	6.057e-05	0.0015459	239	154602	rs117992169	0.0005	0.0005	0.0006	0.0005	0.0161	0.0005	0.0005	0.0151	0.0147	0	2.236e-05	0	0.0161	0	0	1.439e-05	0.0019	0.0001	0.0009	0.0009	0.0010	0.0008	0.0193	0.0008	0.0007	0.0162	0.0151	2.405e-05	0	0.0015	0	0.0193	0	0	5.881e-05	0.0043	0.0004	0.017	0.51248	D	0.118	0.36233	T	0.999	0.77913	D	0.83	0.59611	P	0.000065	0.52346	D	0.199557	0.99915	0.46198	D	2.005	0.54552	M	2.88	0.10291	T	-1.71	0.40660	N	0.454	0.49146	-1.2138	0.00073	T	0.052	0.22076	T	10	0.0067198873	0.00152	T	.	.	.	0.191	0.46948	.	.	0.489449420884	0.48578	0.45076246499644035	0.44994	0.748871437155	0.63661	0.53382563591	0.43573	T	0.010322	0.09328	T	-0.514958	0.00470	T	-0.490165	0.23374	T	0.071554896771615	0.08867	T	0.886311	0.61284	D	0.120755054	0.28409	0.11284652	0.27232	0.120755054	0.28408	0.11284652	0.27231	-8.251	0.62768	D	.	.	0.530	0.65911	A	.;.	.;.	4.664244	0.74481	26.2	0.99916222306633085	0.98449	0.97622	0.75966	D	AEFDGBI	0.564454	0.57124	D	0.72067300015092	0.80988	7.41793	0.730351037461669	0.84684	8.360873	0.999979880438267	0.50053	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	5.952000	0.70000	11.770000	0.95838	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.075	0.97739	217	0.91564	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3752.33	35	chr10	103425101	.	G	A	3752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.786;DP=949;ExcessHet=0;FS=1.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.083;SOR=0.6	GT:AD:DP:GQ:PL	0/1:149,158:307:99:3766,0,3516	18	0	1	0
chr10	103612939	103612939	G	A	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_001365079:exon6:c.C815T:p.A272V,SH3PXD2A:NM_014631:exon11:c.C1088T:p.A363V	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0006	0.0323482	0.0142	0.0004	0.0254	0.1315	0.0203	0.0010	0.0135	0.0038	0.0130399	2016	154602	rs117568095	0.0052	0.0052	0.0053	0.0050	0.1092	0.0051	0.0050	0.1065	0.1054	0.0002	0.0204	0.0033	0.1092	0.0205	0	0.0002	0.0085	0.0040	0.0080	0.0080	0.0065	0.0096	0.1374	0.0076	0.0075	0.1290	0.1257	0.0004	0	0.0100	0.0032	0.1374	0.0211	0	0.0007	0.0076	0.0079	0.145	0.25154	T	0.506	0.10967	T	0.148	0.27908	B	0.046	0.27651	B	0.000758	0.42006	D	0.268690	0.00232745	0.45921	P	0.69	0.16971	N	0.5	0.55945	T	-1.13	0.29114	N	0.167	0.24883	-1.0875	0.05960	T	0.001	0.00255	T	9	0.0017579496	0.00023	T	.	.	.	0.049	0.13647	.	.	.	.	0.5983881472375869	0.59769	0.409143301582	0.41730	0.383184075356	0.22708	T	0.016468	0.13610	T	-0.510266	0.00500	T	-0.363461	0.37653	T	0.0102187556534429	0.00139	T	0.871813	0.57812	D	0.09019947	0.21098	0.10891802	0.26244	0.09019947	0.21098	0.10891802	0.26243	-3.858	0.22632	T	.	.	0.077	0.11606	B	.;.	.;.	2.243559	0.28652	17.87	0.77260008433848371	0.11802	0.94724	0.62112	D	AEFBCI	0.631508	0.61246	D	-0.198416931193109	0.33200	1.880892	-0.0656206937365083	0.36822	2.147842	0.999999999991165	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.67	5.67	0.87673	4.890000	0.62869	8.636000	0.77873	0.590000	0.31872	0.991000	0.37257	1.000000	0.68203	0.025000	0.12405	0.0721:0.0:0.9279:0.0	13.977	0.63793	86	0.96395	.;.	.	.	.	.	rs117568095	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1238.33	34	chr10	103612939	.	G	A	1238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=718;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-0.355;SOR=0.551	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1252,0,1041	18	0	1	0
chr10	117341050	117341050	C	G	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925C:p.E309Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.115356928521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.227	0.25362	T	0.361	0.33905	B	0.068	0.27651	B	0.100580	0.19880	N	0.530412	0.72942	0.33703	D	1.04	0.26193	L	-2.02	0.85542	D	-0.26	0.11185	N	0.307	0.34659	-0.2578	0.76147	T	0.382	0.73862	T	10	0.1287536	0.24493	T	0.115357	0.79451	D	0.219	0.51417	0.262	0.20631	0.41089407703	0.40707	0.32572278031787566	0.32485	0.733746948318	0.62856	0.471481502056	0.34884	T	0.004072	0.03483	T	-0.0192899	0.48954	T	-0.265485	0.48274	T	0.299490293607814	0.24983	T	0.535046	0.17917	T	0.10697685	0.25296	0.07411807	0.16179	0.10697685	0.25296	0.07411807	0.16178	-4.109	0.25423	T	.	.	0.137	0.29833	B	.	.	2.687011	0.35067	19.80	0.99215066277239283	0.55716	0.83537	0.42647	D	AEFBI	0.436196	0.49651	N	0.0261702783483278	0.43048	2.605428	0.215140493430459	0.50686	3.258188	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1176	1457.48	127	chr10	117341050	.	C	G	1457.48	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-4.099;DP=1718;ExcessHet=4.0268;FS=278.265;InbreedingCoeff=-0.3117;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.31;SOR=9.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,28:112:93:0|1:117341048_C_T:93,0,2507:117341048	13	0	4	2
chr10	119172416	119172416	C	A	exonic	PRDX3	.	nonsynonymous SNV	PRDX3:NM_001302272:exon5:c.G517T:p.G173C,PRDX3:NM_006793:exon5:c.G517T:p.G173C	.	431	1078	13	0	0	13	0.00599355	.	.	.	2809662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.640	0.0344172456427	0.0070	0.00139776	0.0052	0.0016	0.0029	0	0.0017	0.0074	0.0055	0.0042	0.0052457	811	154602	rs11554923	0.0068	0.0068	0.0069	0.0068	0.0078	0.0067	0.0067	0.0077	0.0076	0.0011	0.0042	0.0047	2.519e-05	0.0017	0.0076	0.0078	0.0065	0.0045	0.0051	0.0051	0.0051	0.0050	0.0101	0.0048	0.0046	0.0088	0.0083	0.0012	0.0011	0.0101	0.0066	0	0.0010	0.0068	0.0073	0.0061	0.0039	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.95	0.99826	H	1.92	0.23082	T	-7.9	0.96191	D	0.838	0.83371	0.102	0.84209	D	0.279	0.65089	T	10	0.024121523	0.00653	T	0.034417	0.55661	D	0.640	0.86283	.	.	0.785827271255	0.78384	0.8953526697202191	0.89506	0.428384344672	0.43156	0.810923039913	0.83634	D	0.516345	0.83001	D	-0.0559381	0.43538	T	0.154834	0.80487	D	0.166894767751732	0.18366	T	0.975702	0.91457	D	0.948423	0.96106	0.87563336	0.93257	0.948423	0.96106	0.87563336	0.93258	-8.721	0.65883	D	.	.	0.489	0.64094	A	.	.	4.955172	0.81888	27.7	0.99714948005809856	0.81633	0.99567	0.97521	D	AEFDBI	0.947911	0.95899	D	1.09465179467534	0.98034	17.27989	0.968211406184773	0.97912	17.01693	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.847000	0.85186	4.018000	0.41224	0.530000	0.24713	1.000000	0.71638	0.994000	0.32194	0.992000	0.67800	0.0:1.0:0.0:0.0	19.113	0.93307	923	0.18507	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.000000	0.100000	0.008621	0.006098	0.011364	0.05263	2760.83	33	chr10	119172416	.	C	A	2760.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.244;DP=838;ExcessHet=0.119;FS=4.294;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.713;SOR=0.489	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1324,0,1391	17	0	2	0
chr10	122216727	122216727	C	T	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon5:c.C1679T:p.T560M,TACC2:NM_206860:exon5:c.C1679T:p.T560M,TACC2:NM_001291878:exon6:c.C1715T:p.T572M,TACC2:NM_001291879:exon7:c.C557T:p.T186M,TACC2:NM_206861:exon8:c.C1883T:p.T628M,TACC2:NM_001291876:exon10:c.C7310T:p.T2437M,TACC2:NM_001291877:exon10:c.C7457T:p.T2486M,TACC2:NM_206862:exon11:c.C7445T:p.T2482M	.	429	1071	21	1	0	23	0.0106236	.	.	.	2809684	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.190	.	0.0055	0.00259585	0.0066	0.0012	0.0037	0	0.0203	0.0084	0.0110	0.0027	0.0062742	970	154602	rs34944231	0.0063	0.0063	0.0064	0.0063	0.0172	0.0062	0.0062	0.0144	0.0134	0.0013	0.0049	0.0115	2.519e-05	0.0190	0.0172	0.0062	0.0071	0.0032	0.0056	0.0056	0.0052	0.0060	0.0085	0.0053	0.0051	0.0073	0.0069	0.0014	0	0.0085	0.0112	0	0.0168	0.0068	0.0060	0.0095	0.0021	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.002731	0.36034	N	0.000000	0.707636	0.39464	D	2.045	0.56016	M	3.82	0.20959	T	-3.12	0.82700	D	0.385	0.52119	-1.0425	0.16562	T	0.087	0.33606	T	10	0.008578092	0.00194	T	.	.	.	0.190	0.46781	.	.	0.74928862865	0.74702	0.3135585914688497	0.31268	0.506261591587	0.48838	0.395141631365	0.24391	T	0.254498	0.62516	T	-0.395171	0.02490	T	-0.335847	0.40814	T	0.0202739606712517	0.00727	T	0.980602	0.93511	D	0.17032468	0.37601	0.20229791	0.44251	0.17032468	0.37601	0.20229791	0.44250	-3.892	0.24639	T	.	.	0.108	0.23918	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.806375	0.78151	26.8	0.99906649515995816	0.97726	0.96615	0.70031	D	AEFDBI	0.557772	0.56726	D	0.670355751745337	0.77691	6.723674	0.694043590370746	0.81925	7.642314	0.999999723206218	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.395000	0.66037	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	19.719	0.96128	957	0.09725	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.010101	0.009511	0.017544	0.000000	0.017241	0.009146	0.011364	0.05263	2674.83	33	chr10	122216727	.	C	T	2674.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.57;DP=865;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.151;SOR=0.666	GT:AD:DP:GQ:PL	0/1:79,65:144:99:1660,0,1971	17	0	2	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1062.87	83	chr10	122983003	.	G	C	1062.87	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.7;DP=2257;ExcessHet=11.1788;FS=178.411;InbreedingCoeff=-0.4627;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.593;SOR=13.029	GT:AD:DP:GQ:PL	0/1:82,43:127:99:245,0,1241	6	0	12	1
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	20592.3	168	chr10	124989543	.	T	C	20592.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.212;DP=2545;ExcessHet=38.2876;FS=17.974;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=49.65;MQRankSum=-8.998;QD=8.51;ReadPosRankSum=0.06;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,41:162:99:0|1:124989533_G_A:1357,0,4821:124989533	1	0	18	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8765.83	174	chr10	124989564	.	TG	T	8765.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.94;DP=2670;ExcessHet=31.086;FS=16.933;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=51.59;MQRankSum=-8.373;QD=3.69;ReadPosRankSum=-1.813;SOR=0.178	GT:AD:DP:GQ:PL	0/1:123,30:153:99:650,0,4120	2	0	17	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1989.41	182	chr10	124989579	.	G	C	1989.41	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-0.436;DP=2864;ExcessHet=6.9875;FS=14.618;InbreedingCoeff=-0.4859;MLEAC=12;MLEAF=0.429;MQ=53.46;MQRankSum=-7.748;QD=1.37;ReadPosRankSum=-3.038;SOR=0.509	GT:AD:DP:GQ:PL	0/1:126,25:151:99:293,0,3538	4	0	10	5
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V,CTBP2:NM_022802:exon9:c.C2882T:p.A961V,CTBP2:NM_001321013:exon10:c.C1262T:p.A421V,CTBP2:NM_001083914:exon11:c.C1262T:p.A421V,CTBP2:NM_001290214:exon11:c.C1262T:p.A421V,CTBP2:NM_001290215:exon11:c.C1262T:p.A421V,CTBP2:NM_001321012:exon11:c.C1262T:p.A421V,CTBP2:NM_001321014:exon11:c.C1262T:p.A421V,CTBP2:NM_001329:exon11:c.C1262T:p.A421V	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	720.63	43	chr10	124989594	.	G	A	720.63	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-2.445;DP=2053;ExcessHet=2.0135;FS=10.856;InbreedingCoeff=-0.2058;MLEAC=6;MLEAF=0.167;MQ=55.3;MQRankSum=-7.601;QD=0.79;ReadPosRankSum=-3.679;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,18:160:99:0|1:124989594_G_A:160,0,5769:124989594	12	0	6	1
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	5963.25	35	chr10	124994489	.	T	G	5963.25	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.41;DP=2809;ExcessHet=25.4433;FS=26.988;InbreedingCoeff=-0.7286;MLEAC=16;MLEAF=0.421;MQ=58.25;MQRankSum=-7.677;QD=2.44;ReadPosRankSum=-3.639;SOR=3.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,17:180:99:0|1:124994489_T_G:223,0,6700:124994489	3	0	16	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8869.86	35	chr10	124994501	.	G	A	8869.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.103;DP=3037;ExcessHet=31.086;FS=31.76;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.66;MQRankSum=-6.926;QD=3.22;ReadPosRankSum=-2.916;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,22:191:99:0|1:124994489_T_G:415,0,7030:124994489	2	0	17	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	9100.86	35	chr10	124994505	.	A	T	9100.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.29;DP=3109;ExcessHet=31.086;FS=32.046;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.53;MQRankSum=-6.856;QD=3.31;ReadPosRankSum=-2.157;SOR=3.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,22:190:99:0|1:124994489_T_G:418,0,6941:124994489	2	0	17	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	13165.0	224	chr10	124994530	.	G	A	13165.0	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.518;DP=3717;ExcessHet=38.2876;FS=52.691;InbreedingCoeff=-0.9045;MLEAC=18;MLEAF=0.474;MQ=56.99;MQRankSum=-6.295;QD=4.31;ReadPosRankSum=1.03;SOR=4.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,31:199:99:0|1:124994523_G_A:695,0,6796:124994523	1	0	18	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	6669.77	218	chr10	124994542	.	C	T	6669.77	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.167;DP=3803;ExcessHet=31.086;FS=61.277;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=56.82;MQRankSum=-6.243;QD=2.29;ReadPosRankSum=2.29;SOR=5.37	GT:AD:DP:GQ:PL	0/1:159,30:189:99:366,0,4642	1	0	17	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6662.69	214	chr10	124994563	.	A	T	6662.69	.	AC=18;AF=0.5;AN=36;BaseQRankSum=-2.888;DP=3853;ExcessHet=38.2876;FS=70.258;InbreedingCoeff=-0.9487;MLEAC=19;MLEAF=0.528;MQ=56.72;MQRankSum=-6.4;QD=2.12;ReadPosRankSum=3.59;SOR=5.482	GT:AD:DP:GQ:PL	0/1:148,32:180:99:293,0,4514	0	0	18	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18811.3	222	chr10	124994577	.	C	A	18811.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.155;DP=3962;ExcessHet=48.2876;FS=72.251;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.8;MQRankSum=-6.921;QD=5.38;ReadPosRankSum=2.92;SOR=5.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,35:189:99:0|1:124994577_C_A:935,0,6269:124994577	0	0	19	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S,CTBP2:NM_022802:exon4:c.G2072C:p.W691S,CTBP2:NM_001321013:exon5:c.G452C:p.W151S,CTBP2:NM_001083914:exon6:c.G452C:p.W151S,CTBP2:NM_001290214:exon6:c.G452C:p.W151S,CTBP2:NM_001290215:exon6:c.G452C:p.W151S,CTBP2:NM_001321012:exon6:c.G452C:p.W151S,CTBP2:NM_001321014:exon6:c.G452C:p.W151S,CTBP2:NM_001329:exon6:c.G452C:p.W151S	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1771.33	259	chr10	124998077	.	C	G	1771.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.647;DP=3498;ExcessHet=0.7564;FS=15.58;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.22;MQRankSum=-8.756;QD=2.49;ReadPosRankSum=1.42;SOR=2.216	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,28:196:99:0|1:124998077_C_G:670,0,6906:124998077	3	0	4	12
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R,CTBP2:NM_022802:exon4:c.C2069G:p.T690R,CTBP2:NM_001321013:exon5:c.C449G:p.T150R,CTBP2:NM_001083914:exon6:c.C449G:p.T150R,CTBP2:NM_001290214:exon6:c.C449G:p.T150R,CTBP2:NM_001290215:exon6:c.C449G:p.T150R,CTBP2:NM_001321012:exon6:c.C449G:p.T150R,CTBP2:NM_001321014:exon6:c.C449G:p.T150R,CTBP2:NM_001329:exon6:c.C449G:p.T150R	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1753.33	256	chr10	124998080	.	G	C	1753.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.292;DP=3518;ExcessHet=0.7564;FS=15.576;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.22;MQRankSum=-8.729;QD=2.45;ReadPosRankSum=1.75;SOR=2.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,28:202:99:0|1:124998077_C_G:652,0,7158:124998077	3	0	4	12
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G,CTBP2:NM_022802:exon4:c.A2062G:p.R688G,CTBP2:NM_001321013:exon5:c.A442G:p.R148G,CTBP2:NM_001083914:exon6:c.A442G:p.R148G,CTBP2:NM_001290214:exon6:c.A442G:p.R148G,CTBP2:NM_001290215:exon6:c.A442G:p.R148G,CTBP2:NM_001321012:exon6:c.A442G:p.R148G,CTBP2:NM_001321014:exon6:c.A442G:p.R148G,CTBP2:NM_001329:exon6:c.A442G:p.R148G	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	1799.33	255	chr10	124998087	.	T	C	1799.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.812;DP=3535;ExcessHet=0.7564;FS=15.501;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.2;MQRankSum=-8.764;QD=2.51;ReadPosRankSum=3.16;SOR=2.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,29:205:99:0|1:124998077_C_G:686,0,7303:124998077	3	0	4	12
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W,CTBP2:NM_022802:exon4:c.C2059T:p.R687W,CTBP2:NM_001321013:exon5:c.C439T:p.R147W,CTBP2:NM_001083914:exon6:c.C439T:p.R147W,CTBP2:NM_001290214:exon6:c.C439T:p.R147W,CTBP2:NM_001290215:exon6:c.C439T:p.R147W,CTBP2:NM_001321012:exon6:c.C439T:p.R147W,CTBP2:NM_001321014:exon6:c.C439T:p.R147W,CTBP2:NM_001329:exon6:c.C439T:p.R147W	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1757.33	259	chr10	124998090	.	G	A	1757.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.557;DP=3577;ExcessHet=0.7564;FS=15.501;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.23;MQRankSum=-8.835;QD=2.41;ReadPosRankSum=3.64;SOR=2.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,29:208:99:0|1:124998077_C_G:677,0,7376:124998077	3	0	4	12
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G,CTBP2:NM_022802:exon4:c.T2038G:p.C680G,CTBP2:NM_001321013:exon5:c.T418G:p.C140G,CTBP2:NM_001083914:exon6:c.T418G:p.C140G,CTBP2:NM_001290214:exon6:c.T418G:p.C140G,CTBP2:NM_001290215:exon6:c.T418G:p.C140G,CTBP2:NM_001321012:exon6:c.T418G:p.C140G,CTBP2:NM_001321014:exon6:c.T418G:p.C140G,CTBP2:NM_001329:exon6:c.T418G:p.C140G	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1780.33	276	chr10	124998111	.	A	C	1780.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.781;DP=3589;ExcessHet=0.7564;FS=15.168;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.23;MQRankSum=-8.882;QD=2.46;ReadPosRankSum=4.79;SOR=2.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,29:210:99:0|1:124998111_A_C:673,0,7459:124998111	3	0	4	12
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T,CTBP2:NM_022802:exon4:c.T2036C:p.I679T,CTBP2:NM_001321013:exon5:c.T416C:p.I139T,CTBP2:NM_001083914:exon6:c.T416C:p.I139T,CTBP2:NM_001290214:exon6:c.T416C:p.I139T,CTBP2:NM_001290215:exon6:c.T416C:p.I139T,CTBP2:NM_001321012:exon6:c.T416C:p.I139T,CTBP2:NM_001321014:exon6:c.T416C:p.I139T,CTBP2:NM_001329:exon6:c.T416C:p.I139T	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1759.33	274	chr10	124998113	.	A	G	1759.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.006;DP=3601;ExcessHet=0.7564;FS=15.272;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.23;MQRankSum=-8.929;QD=2.41;ReadPosRankSum=4.27;SOR=2.194	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,29:212:99:0|1:124998111_A_C:667,0,7518:124998111	3	0	4	12
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	296.38	60	chr10	125003448	.	G	C	296.38	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.301;DP=1574;ExcessHet=0.3672;FS=5.744;InbreedingCoeff=-0.2462;MLEAC=5;MLEAF=0.25;MQ=59.14;MQRankSum=-8.275;QD=1.23;ReadPosRankSum=0.628;SOR=1.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,8:87:98:0|1:125003425_G_C:98,0,3293:125003425	7	0	3	9
chr10	127878219	127878219	G	A	exonic	CLRN3	.	nonsynonymous SNV	CLRN3:NM_152311:exon3:c.C611T:p.A204V	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0162966796802	.	.	6.589e-05	0	8.637e-05	0	0	0	0	0.0004	6.47e-05	10	154602	rs770990419	9.44e-05	9.44e-05	5.989e-05	0.0001	0.0009	8.134e-05	7.65e-05	0.0007	0.0007	0	0	0	0	0	0	5.396e-05	3.312e-05	0.0009	3.286e-05	3.284e-05	2.569e-05	4.036e-05	0.0004	1.261e-05	7.98e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	4.409e-05	0	0.0004	0.036	0.43393	D	0.08	0.41913	T	0.113	0.26349	B	0.046	0.24676	B	0.089258	0.20437	N	0.475155	0.986071	0.40377	D	1.975	0.53506	M	-0.98	0.75789	T	-2.54	0.55025	D	0.106	0.09066	-0.9778	0.35503	T	0.176	0.52068	T	10	0.0664821	0.09125	T	0.016297	0.37489	T	0.119	0.33137	0.336	0.32491	0.709114936604	0.70657	0.5293227187668601	0.52856	0.056781700345	0.06275	0.401974052191	0.25343	T	0.062762	0.32000	T	-0.396958	0.02424	T	-0.424762	0.30532	T	0.173797203117312	0.18835	T	0.576842	0.20728	T	0.1002047	0.23659	0.16407542	0.38028	0.1002047	0.23658	0.16407542	0.38027	-4.033	0.24296	T	.	.	0.126	0.26638	B	.	.	3.230353	0.44050	21.9	0.9929537532056002	0.58433	0.82391	0.41625	D	AEFBI	0.592230	0.58802	D	-0.353366254645676	0.27148	1.487206	-0.189632027957996	0.31916	1.810787	0.999487847001448	0.39952	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.72	2.83	0.32150	3.482000	0.52951	5.589000	0.48992	0.676000	0.76740	0.866000	0.30720	1.000000	0.68203	0.996000	0.76049	0.0861:0.0:0.7466:0.1672	7.317	0.25681	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2808.33	33	chr10	127878219	.	G	A	2808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=835;ExcessHet=0;FS=2.494;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=1.46;SOR=0.513	GT:AD:DP:GQ:PL	0/1:101,104:205:99:2822,0,2582	18	0	1	0
chr10	128104971	128104971	A	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.T5789C:p.L1930S,MKI67:NM_002417:exon13:c.T6869C:p.L2290S	.	435	1071	15	1	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0005	0.00159744	0.0017	0.0005	0.0088	0	0	0.0004	0.0011	0.0047	0.0015977	247	154602	rs142585399	0.0008	0.0008	0.0007	0.0009	0.0083	0.0007	0.0007	0.0076	0.0074	8.961e-05	0.0083	0	0	0	0.0017	0.0002	0.0010	0.0049	0.0008	0.0008	0.0008	0.0009	0.0052	0.0007	0.0007	0.0043	0.0040	0.0004	0	0.0052	0	0	0	0	0.0003	0.0005	0.0029	0.051	0.45039	T	0.052	0.47581	T	1.0	0.90584	D	0.999	0.92359	D	0.042810	0.01910	N	3.759080	1	0.08975	N	2.325	0.66631	M	3.23	0.06931	T	-2.04	0.51157	N	0.354	0.39558	-0.8799	0.49770	T	0.036	0.15683	T	10	0.0048911273	0.00104	T	.	.	.	0.228	0.52768	.	.	0.235664433957	0.23186	0.12604868837369124	0.12530	0.18284391176	0.20557	0.213060647249	0.00948	T	0.019472	0.15507	T	-0.502251	0.00555	T	-0.48483	0.23935	T	0.0580150899496101	0.06852	T	0.306769	0.05902	T	0.04376589	0.06878	0.0493814	0.07536	0.04376589	0.06878	0.0493814	0.07535	-7.497	0.57589	T	.	.	0.186	0.40197	B	.;.	.;.	0.625634	0.09942	6.698	0.98408434888710794	0.41148	0.04019	0.09450	N	AEFBCI	0.032231	0.03598	N	-0.660365436877656	0.17158	0.8805847	-0.928975025558241	0.11412	0.5812225	0.999765059627799	0.42728	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	3.6	-2.11	0.06787	-1.854000	0.01757	-15.955000	0.00333	-0.944000	0.02069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3607:0.1582:0.3251:0.1561	1.041	0.01461	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.003788	0.05263	8304.83	202	chr10	128104971	.	A	G	8304.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.062;DP=3921;ExcessHet=0.119;FS=0.519;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.99;MQRankSum=0;QD=12.55;ReadPosRankSum=0.479;SOR=0.651	GT:AD:DP:GQ:PL	0/1:187,186:373:99:4586,0,4660	17	0	2	0
chr11	618904	618904	G	A	exonic	CDHR5	.	nonsynonymous SNV	CDHR5:NM_001171968:exon13:c.C1637T:p.P546L,CDHR5:NM_021924:exon13:c.C1655T:p.P552L	.	425	1093	3	1	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.00319489	0.0026	0	0.0002	0.0318	0.0012	0.0002	0.0033	0.0006	0.0022057	341	154602	rs192328085	0.0013	0.0013	0.0013	0.0013	0.0381	0.0012	0.0012	0.0365	0.0358	0	2.247e-05	0.0007	0.0381	0.0008	0.0005	7.482e-05	0.0018	0.0011	0.0012	0.0012	0.0010	0.0015	0.0297	0.0011	0.0010	0.0259	0.0244	4.839e-05	0	6.543e-05	0.0009	0.0297	0.0010	0	0.0001	0.0014	0.0006	0.054	0.38633	T	0.041	0.50514	D	0.248	0.31148	B	0.067	0.27542	B	0.196640	0.03289	N	1.978160	1	0.08975	N	1.39	0.34934	L	1.1	0.39050	T	-1.05	0.27463	N	0.115	0.33578	-1.0484	0.14846	T	0.035	0.15291	T	10	0.0037231743	0.00069	T	.	.	.	0.028	0.06331	.	.	0.101711395817	0.09552	0.2075970087440285	0.20675	0.247984735004	0.27358	0.236528366804	0.02486	T	0.008657	0.07935	T	-0.518874	0.00447	T	-0.49579	0.22784	T	0.0156021913229965	0.00356	T	0.408059	0.10511	T	0.053665232	0.10188	0.05627769	0.10028	0.053665232	0.10187	0.05627769	0.10027	-7.882	0.60263	D	.	.	0.075	0.05890	B	.;.	.;.	1.292428	0.16934	12.86	0.6897591394274738	0.08826	0.01885	0.05793	N	AEFDBI	0.039159	0.05648	N	-0.828752264098498	0.12579	0.6140258	-0.928654873780205	0.11420	0.5816502	0.712109719718229	0.22832	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.4	1.41	0.21461	-0.789000	0.04714	0.060000	0.14119	0.667000	0.69007	0.000000	0.06391	0.013000	0.20296	0.015000	0.10482	0.1224:0.0:0.6593:0.2183	4.431	0.10951	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	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	0.002520	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011450	0.02632	1545.33	44	chr11	618904	.	G	A	1545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.2;DP=904;ExcessHet=0;FS=4.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.81;MQRankSum=-0.586;QD=9.48;ReadPosRankSum=2.12;SOR=0.729	GT:AD:DP:GQ:PL	0/1:104,59:163:99:1559,0,1855	18	0	1	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	8543.31	218	chr11	1018290	.	G	A	8543.31	.	AC=14;AF=0.368;AN=38;BaseQRankSum=4.18;DP=5186;ExcessHet=31.086;FS=18.111;InbreedingCoeff=-0.8095;MLEAC=14;MLEAF=0.368;MQ=55.27;MQRankSum=-8.441;QD=1.76;ReadPosRankSum=1.38;SOR=1.969	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:280,31:331:99:.:.:459,0,11664:.	5	0	14	0
chr11	1075685	1075685	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	416	1052	54	0	0	54	0.0250232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00798722	0.0064	0	0.0014	0.0002	0.0008	0.0039	0.0081	0.0364	0.005692	880	154602	rs72652890	0.0054	0.0055	0.0047	0.0062	0.0292	0.0053	0.0053	0.0283	0.0279	0.0005	0.0016	0.0042	0.0009	0.0006	0.0141	0.0043	0.0055	0.0292	0.0032	0.0032	0.0030	0.0033	0.0257	0.0029	0.0029	0.0220	0.0206	0.0006	0.0154	0.0020	0.0060	0.0008	0.0002	0.0102	0.0038	0.0019	0.0257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016145	0.010101	0.008174	0.017544	0.100000	0.000000	0.012195	0.041985	0.1053	5645.41	33	chr11	1075685	.	C	T	5645.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.157;DP=891;ExcessHet=0.0101;FS=0;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=18.94;ReadPosRankSum=0.103;SOR=0.692	GT:AD:DP:GQ:PL	0/1:39,55:94:99:1403,0,1056	16	1	2	0
chr11	1096086	1096086	G	0	exonic	MUC2	.	.	.	.	566	673	252	7	24	290	0.165012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	25958.0	336	chr11	1096086	.	G	*	25958.0	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.243;DP=6216;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2862;MLEAC=4;MLEAF=0.105;MQ=56.85;MQRankSum=0.894;QD=7.23;ReadPosRankSum=0;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,68:348:99:0|1:1096074_CGACACCCATCAGCACCACCACTACGGTGACCCCAACACCAACACCCACCGGCACACAGACCCCAACCCT_C:1535,0,10576:1096074	15	0	4	0
chr11	1096089	1096089	C	0	exonic	MUC2	.	.	.	.	524	547	439	2	10	453	0.288224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	37894.6	320	chr11	1096089	.	C	*	37894.6	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.739;DP=6464;ExcessHet=20.8569;FS=0.576;InbreedingCoeff=-0.7273;MLEAC=2;MLEAF=0.059;MQ=56.72;MQRankSum=-3.754;QD=7.4;ReadPosRankSum=3.56;SOR=0.736	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,68:348:99:0|1:1096074_CGACACCCATCAGCACCACCACTACGGTGACCCCAACACCAACACCCACCGGCACACAGACCCCAACCCT_C:1535,0,10576:1096074	15	0	2	2
chr11	1096105	1096105	C	0	exonic	MUC2	.	.	.	.	521	552	438	2	9	451	0.285899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	40487.7	320	chr11	1096105	.	C	*	40487.7	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.653;DP=6591;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.7273;MLEAC=1;MLEAF=0.029;MQ=56.72;MQRankSum=-2.902;QD=7.73;ReadPosRankSum=2.82;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,68:348:99:0|1:1096074_CGACACCCATCAGCACCACCACTACGGTGACCCCAACACCAACACCCACCGGCACACAGACCCCAACCCT_C:1535,0,10576:1096074	16	0	1	2
chr11	1096123	1096123	C	0	exonic	MUC2	.	.	.	.	478	865	169	4	6	183	0.0928159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	22898.1	339	chr11	1096123	.	C	*	22898.1	.	AC=2;AF=0.059;AN=34;BaseQRankSum=1.68;DP=7054;ExcessHet=1.8686;FS=0.557;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.059;MQ=56.64;MQRankSum=1.86;QD=8.16;ReadPosRankSum=-2.27;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,68:348:99:0|1:1096074_CGACACCCATCAGCACCACCACTACGGTGACCCCAACACCAACACCCACCGGCACACAGACCCCAACCCT_C:1535,0,10576:1096074	15	0	2	2
chr11	1096141	1096168	CCTGACACCCATCACCACCACCACTACG	0	exonic	MUC2	.	.	.	.	463	999	52	0	8	60	0.0253659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	5365.69	440	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	*	5365.69	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-0.83;DP=7906;ExcessHet=0.7564;FS=0.625;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.059;MQ=56.57;MQRankSum=-2.836;QD=3.46;ReadPosRankSum=-0.775;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,68:348:99:0|1:1096074_CGACACCCATCAGCACCACCACTACGGTGACCCCAACACCAACACCCACCGGCACACAGACCCCAACCCT_C:1535,0,10576:1096074	15	0	2	2
chr11	1096142	1096142	C	0	exonic	MUC2	.	.	.	.	488	947	10	0	77	87	0.0052521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	816.39	440	chr11	1096142	.	C	*	816.39	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-1.868;DP=7900;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1875;MLEAC=4;MLEAF=0.118;MQ=56.6;MQRankSum=-1.136;QD=0.44;ReadPosRankSum=1.89;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,68:348:99:0|1:1096074_CGACACCCATCAGCACCACCACTACGGTGACCCCAACACCAACACCCACCGGCACACAGACCCCAACCCT_C:1535,0,10576:1096074	13	0	4	2
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	16077.3	440	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	16077.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.72;DP=9243;ExcessHet=8.9063;FS=1.137;InbreedingCoeff=-0.4074;MLEAC=5;MLEAF=0.132;MQ=56.91;MQRankSum=-3.717;QD=4.25;ReadPosRankSum=-1.447;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:127,87:285:99:.:.:2348,0,7797:.	14	0	5	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1368.84	440	chr11	1096155	.	C	*	1368.84	.	AC=9;AF=0.265;AN=34;BaseQRankSum=2.27;DP=8782;ExcessHet=6.9875;FS=1.819;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.294;MQ=55.63;MQRankSum=-1.462;QD=0.48;ReadPosRankSum=-6.177;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:127,71:285:99:.:.:2158,0,6751:.	8	0	9	2
chr11	1096168	1096168	G	0	exonic	MUC2	.	.	.	.	1	110	14	0	101	115	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2015.37	440	chr11	1096168	.	G	*	2015.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.61;DP=9016;ExcessHet=8.9063;FS=1.149;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.263;MQ=55.65;MQRankSum=2.2;QD=0.58;ReadPosRankSum=-1.711;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:127,71:285:99:.:.:2158,0,6751:.	9	0	10	0
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	685.62	440	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	685.62	.	AC=9;AF=0.25;AN=36;BaseQRankSum=2.47;DP=8861;ExcessHet=6.9875;FS=1.838;InbreedingCoeff=-0.3818;MLEAC=9;MLEAF=0.25;MQ=57.05;MQRankSum=-2.059;QD=0.2;ReadPosRankSum=1.49;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:127,71:285:99:.:.:2158,0,6751:.	9	0	9	1
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	5030.81	440	chr11	1096180	.	C	*	5030.81	.	AC=8;AF=0.333;AN=24;BaseQRankSum=0.917;DP=8171;ExcessHet=6.9875;FS=1.141;InbreedingCoeff=-0.551;MLEAC=10;MLEAF=0.417;MQ=55.72;MQRankSum=-4.128;QD=1.58;ReadPosRankSum=0.461;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,71:273:99:0|1:1096074_CGACACCCATCAGCACCACCACTACGGTGACCCCAACACCAACACCCACCGGCACACAGACCCCAACCCT_C:2233,0,5329:1096074	4	0	8	7
chr11	1096261	1096261	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	437	1081	4	0	0	4	0.00184672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325006662	0.0004	0.0005	0.0003	0.0005	0.0043	0.0004	0.0004	0.0036	0.0034	0.0043	0.0006	0.0015	8.784e-05	0.0002	0.0022	0.0001	0.0009	0.0026	0.0012	0.0014	0.0011	0.0013	0.0032	0.0011	0.0010	0.0028	0.0026	0.0032	0	0.0005	0.0038	0	0	0	0.0003	0.0005	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3901.83	476	chr11	1096261	.	C	T	3901.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.78;DP=7115;ExcessHet=0.119;FS=1.278;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.81;MQRankSum=2.85;QD=6.18;ReadPosRankSum=1.47;SOR=0.611	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:225,102:327:99:.:.:2122,0,6870:.	17	0	2	0
chr11	1097436	1097436	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	1	223	2	0	0	2	0.00446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.0482318403546	.	.	0.0005	0.0007	0	0	0	0.0003	0	0.0008	5.82e-05	9	154602	rs1255753096	0.0015	0.0019	0.0015	0.0015	0.0015	0.0014	0.0013	0.0014	0.0013	0.0009	0.0009	0.0006	0.0010	0.0053	0.0005	0.0015	0.0015	0.0006	0.0004	0.0009	0.0003	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0	0.0003	0	0	0.0005	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.151303	0.221053	0.051095	0.078947	0.285714	0.060000	0.204762	0.156250	0.1429	584.88	143	chr11	1097436	.	C	G	584.88	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.74;DP=2821;ExcessHet=0.119;FS=1.407;InbreedingCoeff=-0.2667;MLEAC=4;MLEAF=0.286;MQ=35.95;MQRankSum=0.057;QD=3.18;ReadPosRankSum=-2.069;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,16:108:47:0|1:1097377_T_C:47,0,3060:1097377	5	0	2	12
chr11	1097542	1097542	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388450032	0.0030	0.0029	0.0025	0.0035	0.0140	0.0029	0.0029	0.0133	0.0130	0.0005	0.0014	0.0023	0.0009	0.0010	0.0092	0.0024	0.0029	0.0140	0.0010	0.0013	0.0009	0.0011	0.0066	0.0008	0.0007	0.0039	0.0031	0.0002	0	0.0006	0.0030	0.0003	0	0.0088	0.0014	0	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	7507.2	150	chr11	1097542	.	C	T	7507.2	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.076;DP=2579;ExcessHet=0.7564;FS=13.386;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.083;MQ=52.08;MQRankSum=4.61;QD=15.38;ReadPosRankSum=1.06;SOR=0.257	GT:AD:DP:GQ:PL	0/1:35,109:144:99:2713,0,444	15	0	3	1
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	76561.1	246	chr11	1099370	.	G	*	76561.1	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.87;DP=5970;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=9;MLEAF=0.237;MQ=52.86;MQRankSum=-0.915;QD=21.15;ReadPosRankSum=0.851;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,40:149:99:.:.:8774,4044,4423:.	10	0	9	0
chr11	1607869	1607869	G	A	exonic	KRTAP5-3	.	nonsynonymous SNV	KRTAP5-3:NM_001012708:exon1:c.C517T:p.P173S	.	435	1077	10	0	0	10	0.00462107	.	.	.	2700338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.00259297718739	0.0002	.	0.0003	0	0.0002	0	0	0.0002	0.0011	0.0013	0.0002523	39	154602	rs201674720	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	2.997e-05	0	0	0	1.897e-05	0.0016	8.961e-05	0.0003	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0001	9.809e-05	0.0006	0.0004	2.453e-05	0	6.636e-05	0	0	0	0	0.0003	0	0.0013	0.014	0.53172	D	0.131	0.34596	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	2.53	0.73802	M	5.19	0.01172	T	-6.08	0.89910	D	0.141	0.14054	-0.9437	0.42025	T	0.005	0.01578	T	9	0.0326021	0.01415	T	0.002593	0.05235	T	0.040	0.10527	.	.	0.0806252709748	0.07271	0.03709911176001449	0.03656	0.0209301570774	0.02068	.	.	.	0.098628	0.40264	T	-0.429505	0.01492	T	-0.663048	0.08062	T	0.135738506913185	0.15903	T	.	.	.	0.16437835	0.36641	0.22739103	0.47748	0.16437835	0.36641	0.22739103	0.47747	-7.875	0.60215	D	.	.	0.282	0.51480	B	.	.	1.834603	0.23309	15.97	0.83063333957712349	0.14522	0.00437	0.02136	N	AEFDGBI	0.012930	0.00156	N	-1.14509194023092	0.05861	0.2683051	-1.20876163259635	0.05768	0.275784	0.00833562901249085	0.11656	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.43	-0.162	0.12712	0.033000	0.13642	0.707000	0.20898	0.300000	0.18932	0.000000	0.06391	0.874000	0.27626	0.011000	0.09372	0.2267:0.3422:0.4311:0.0	4.67	0.12068	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002125	0.005102	0.000000	0.000000	0.000000	0.000000	0.009259	0.000000	0.02632	2987.33	53	chr11	1607869	.	G	A	2987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.369;DP=2498;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.86;MQRankSum=1.09;QD=13.7;ReadPosRankSum=0.131;SOR=0.676	GT:AD:DP:GQ:PL	0/1:105,113:218:99:3001,0,2760	18	0	1	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	57352.6	206	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	57352.6	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.38;DP=3777;ExcessHet=0.1504;FS=1.658;InbreedingCoeff=0.2083;MLEAC=13;MLEAF=0.342;MQ=58.69;MQRankSum=-5.209;QD=18.99;ReadPosRankSum=0.122;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,182:182:99:1|1:1630355_CCTGCTGCCAGTCCAGCTGCTGTAAGCCTTA_C:7628,561,0:1630355	8	2	9	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.2105	23862.2	50	chr11	1956322	.	G	A	23862.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.91;DP=1732;ExcessHet=0.0419;FS=0;InbreedingCoeff=0.3667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=1.84;SOR=0.676	GT:AD:DP:GQ:PL	1/1:0,245:245:99:7315,735,0	13	2	4	0
chr11	4449588	4449588	G	A	exonic	OR52K2	.	nonsynonymous SNV	OR52K2:NM_001005172:exon1:c.G249A:p.M83I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00308010424469	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001423	22	154602	rs146429000	6.362e-05	6.362e-05	3.539e-05	9.213e-05	0.0010	5.294e-05	4.911e-05	0.0009	0.0008	0	0	0	0	0	0.0002	0	4.967e-05	0.0010	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.108	0.29420	T	0.076	0.42614	T	0.067	0.23653	B	0.05	0.25278	B	0.001662	0.38326	N	0.121207	0.595195	0.32490	D	1.77	0.45869	L	3.43	0.05440	T	-2.11	0.48020	N	0.124	0.11626	-1.0922	0.05175	T	0.029	0.12497	T	10	0.022012562	0.00539	T	0.00308	0.06666	T	0.074	0.21613	0.377	0.39156	0.290222751274	0.28632	0.20754934719375098	0.20670	0.00339618764331	0.00292	0.357965350151	0.19089	T	0.014765	0.12509	T	-0.538884	0.00340	T	-0.592398	0.13459	T	0.0672389742899418	0.08258	T	0.858914	0.54988	D	0.30653828	0.53484	0.22991493	0.48078	0.30653828	0.53485	0.22991493	0.48077	-7.123	0.54926	T	.	.	0.534	0.66094	A	.	.	1.817767	0.23100	15.89	0.98632780997232627	0.43933	0.86412	0.45687	D	AEFBI	0.282321	0.39569	N	-0.0314233915002575	0.40436	2.40131	0.0619259142320546	0.42652	2.583577	0.999517306224671	0.40117	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.37	4.37	0.51830	0.260000	0.18192	.	.	0.613000	0.49114	0.454000	0.26597	0.000000	0.08366	0.833000	0.39279	0.0:0.0:1.0:0.0	15.683	0.77145	877	0.30165	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	.	.	.	.	.	.	.	.	0.02632	4624.33	39	chr11	4449588	.	G	A	4624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.209;DP=980;ExcessHet=0;FS=4.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.65;MQRankSum=2.07;QD=13.6;ReadPosRankSum=-0.503;SOR=0.492	GT:AD:DP:GQ:PL	0/1:165,175:340:99:4638,0,4805	18	0	1	0
chr11	4545230	4545230	T	-	exonic	OR52M1	.	frameshift deletion	OR52M1:NM_001004137:exon1:c.40delT:p.F14Sfs*32	.	429	1053	39	1	0	41	0.0190964	.	.	.	3221646	OR52M1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0077	0.0181709	0.0084	0.0203	0.0027	0.0488	0	0.0005	0.0046	0.0211	0.001191	31	26028	rs77893620	0.0035	0.0035	0.0031	0.0040	0.0361	0.0035	0.0034	0.0345	0.0339	0.0230	0.0025	0.0002	0.0361	0	0.0064	0.0007	0.0077	0.0186	0.0091	0.0091	0.0088	0.0093	0.0445	0.0087	0.0085	0.0398	0.0380	0.0218	0	0.0052	0	0.0445	0	0	0.0006	0.0104	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009567	0.000000	0.005435	0.014620	0.000000	0.008621	0.009146	0.018939	0.02632	955.29	33	chr11	4545229	.	CT	C	955.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-1.942;SOR=0.732	GT:AD:DP:GQ:PL	0/1:44,32:76:99:969,0,1403	18	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.019134	0.000000	0.009511	0.014620	0.000000	0.008621	0.033537	0.045455	0.1316	10144.4	168	chr11	4653052	.	A	G	10144.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.83;DP=2413;ExcessHet=1.3;FS=0.524;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.444;SOR=0.745	GT:AD:DP:GQ:PL	0/1:104,102:206:99:2720,0,2703	14	0	5	0
chr11	5515216	5515216	G	-	exonic	UBQLNL	.	frameshift deletion	UBQLNL:NM_145053:exon1:c.1226delC:p.T409Nfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2187.29	151	chr11	5515215	.	TG	T	2187.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=1680;ExcessHet=0;FS=0.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-0.422;SOR=0.806	GT:AD:DP:GQ:PL	0/1:76,65:141:99:2201,0,2629	18	0	1	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.008152	0.008772	0.000000	0.025862	0.012195	0.007576	0.07895	8085.79	41	chr11	6892050	.	T	C	8085.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.734;DP=2158;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.305;SOR=0.674	GT:AD:DP:GQ:PL	0/1:105,107:212:99:2751,0,2836	16	0	3	0
chr11	18282050	18282050	G	A	exonic	HPS5	.	nonsynonymous SNV	HPS5:NM_007216:exon21:c.C2887T:p.R963W,HPS5:NM_181508:exon21:c.C2887T:p.R963W,HPS5:NM_181507:exon22:c.C3229T:p.R1077W	Hermansky-Pudlak syndrome 5	0	1521	1	0	0	1	0.000328623	.	.	.	313472	not_specified|Hermansky-Pudlak_syndrome_5|not_provided	MedGen:CN169374|MONDO:MONDO:0013557,MedGen:C3888004,OMIM:614074,Orphanet:231512,Orphanet:79430|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.236	.	7.7e-05	0.00419329	0.0017	0	8.639e-05	0.0201	0.0006	0.0002	0.0011	0.0008	0.0016753	259	154602	rs75482179	0.0009	0.0009	0.0009	0.0009	0.0251	0.0009	0.0008	0.0238	0.0233	0	8.944e-05	0.0010	0.0251	0.0006	0.0005	0.0001	0.0010	0.0006	0.0009	0.0009	0.0008	0.0010	0.0184	0.0007	0.0007	0.0154	0.0143	0	0	0	0.0003	0.0184	0.0005	0	0.0003	0.0009	0.0012	0.004	0.65419	D	0.01	0.83351	D	0.998	0.73220	D	0.721	0.54900	P	0.004266	0.33923	N	0.317591	0.910428	0.36396	D	1.7	0.43825	L	0.36	0.58323	T	-2.25	0.72120	N	0.576	0.66529	-0.8071	0.54725	T	0.121	0.42144	T	10	0.008871615	0.00201	T	.	.	.	0.236	0.53931	.	.	0.69811077665	0.69550	0.46225885507123715	0.46143	0.302183612362	0.32546	0.402786582708	0.25457	T	0.283685	0.65645	T	-0.325555	0.06453	T	-0.225477	0.52209	T	0.0686489491330823	0.08461	T	0.940106	0.79612	D	0.11163529	0.26380	0.13460076	0.32248	0.11930509	0.28094	0.10209527	0.24459	-6.561	0.50755	T	.	.	0.120	0.27968	B	.;.;.;.	.;.;.;.	4.571919	0.72147	25.8	0.99926246818218079	0.99103	0.90244	0.51267	D	AEFDBI	0.383293	0.46485	N	0.414935874607903	0.62242	4.437061	0.400654842585439	0.61604	4.363047	0.98667884752673	0.31105	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.82	3.9	0.44240	3.541000	0.53373	4.326000	0.43013	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0766:0.0:0.7766:0.1468	9.186	0.36333	673	0.60677	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1731.33	33	chr11	18282050	.	G	A	1731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=802;ExcessHet=0;FS=0.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-2.392;SOR=0.775	GT:AD:DP:GQ:PL	0/1:95,69:164:99:1745,0,2257	18	0	1	0
chr11	18396909	18396909	A	G	exonic	LDHA	.	nonsynonymous SNV	LDHA:NM_001135239:exon2:c.A67G:p.I23V,LDHA:NM_001165414:exon2:c.A154G:p.I52V,LDHA:NM_001165415:exon2:c.A67G:p.I23V,LDHA:NM_001165416:exon2:c.A67G:p.I23V,LDHA:NM_005566:exon2:c.A67G:p.I23V	Glycogen storage disease XI, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0105569091806	.	.	8.242e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs759849879	5.473e-06	5.472e-06	5.446e-06	5.501e-06	5.798e-05	2.36e-06	1.7e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	2.698e-06	0	5.798e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.778	0.08212	T	0.8	0.35840	T	0.002	0.09854	B	0.03	0.21741	B	0.000004	0.62929	D	0.062009	0.99981	0.51042	D	-0.24	0.03895	N	-1.99	0.85320	D	-0.21	0.21215	N	0.17	0.21580	-0.5926	0.65117	T	0.333	0.70018	T	10	0.27740136	0.45306	T	0.010557	0.27238	T	0.258	0.56959	0.613	0.74652	0.830658744853	0.82905	0.46882524235023854	0.46801	0.418581757671	0.42443	0.532580852509	0.43398	T	0.530902	0.83765	D	-0.0991746	0.36562	T	-0.17758	0.56746	T	0.227413445711136	0.21828	T	0.922608	0.75597	D	0.16523957	0.36783	0.13670403	0.32695	0.16523957	0.36783	0.13670403	0.32694	-3.607	0.31408	T	.	.	0.106	0.34797	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.285778	0.45040	22.1	0.96734357027286322	0.30899	0.93704	0.58953	D	AEFBCI	0.836780	0.75450	D	-0.197661886855475	0.33231	1.882991	0.0413492158946268	0.41656	2.506268	0.999999993815256	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.02	5.02	0.66742	7.485000	0.80221	9.364000	0.80397	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.205	0.72862	649	0.63102	Lactate/malate dehydrogenase, N-terminal;Lactate/malate dehydrogenase, N-terminal;.;.;Lactate/malate dehydrogenase, N-terminal;.;Lactate/malate dehydrogenase, N-terminal;Lactate/malate dehydrogenase, N-terminal;.;Lactate/malate dehydrogenase, N-terminal;Lactate/malate dehydrogenase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2303.33	34	chr11	18396909	.	A	G	2303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.143;DP=802;ExcessHet=0;FS=1.204;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.613;SOR=0.568	GT:AD:DP:GQ:PL	0/1:79,93:172:99:2317,0,1878	18	0	1	0
chr11	20103261	20103261	C	T	exonic	NAV2	.	nonsynonymous SNV	NAV2:NM_001111019:exon23:c.C3616T:p.R1206C,NAV2:NM_145117:exon33:c.C6424T:p.R2142C,NAV2:NM_182964:exon33:c.C6433T:p.R2145C,NAV2:NM_001111018:exon34:c.C6232T:p.R2078C,NAV2:NM_001244963:exon35:c.C6601T:p.R2201C	.	420	1098	4	0	0	4	0.00181818	.	.	.	3211184	NAV2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.676	0.2297214325	0.0025	0.000599042	0.0021	0.0006	0.0009	0	0.0003	0.0034	0	0.0004	0.0021733	336	154602	rs34329467	0.0038	0.0038	0.0038	0.0037	0.0047	0.0037	0.0037	0.0046	0.0045	0.0003	0.0012	0	0	0.0004	0.0003	0.0047	0.0028	0.0004	0.0022	0.0022	0.0022	0.0022	0.0041	0.0020	0.0019	0.0037	0.0035	0.0007	0.0011	0.0012	0	0	0.0004	0	0.0041	0.0014	0	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	1	0.81001	D	3.12	0.87914	M	-2.47	0.88997	D	-5.86	0.88561	D	0.866	0.88909	0.780	0.94170	D	0.838	0.94575	D	9	0.08301404	0.13765	T	0.229721	0.88197	D	0.676	0.88061	.	.	0.922064195874	0.92127	0.7286376070481035	0.72807	1.46418215405	0.86425	0.800207853317	0.81995	T	0.245953	0.91428	T	0.133413	0.67692	D	0.418342	0.92691	D	0.0907011205255013	0.11301	T	0.954105	0.82551	D	0.48775038	0.66369	0.46195176	0.68758	0.48775038	0.66369	0.46195176	0.68758	-12.044	0.85262	D	.	.	0.301	0.70235	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.198950	0.87212	29.2	0.99929082970476801	0.99279	0.97604	0.75845	D	AEFDBI	0.904028	0.85384	D	0.79474385665789	0.85775	8.678075	0.761417282493961	0.87010	9.075942	0.99999999855991	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	6.036000	0.70590	5.972000	0.52016	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0:1.0:0.0:0.0	19.210	0.93735	843	0.36859	.;.;AAA+ ATPase domain;AAA+ ATPase domain;.;AAA+ ATPase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2188.33	33	chr11	20103261	.	C	T	2188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.296;DP=800;ExcessHet=0;FS=1.221;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.482;SOR=0.821	GT:AD:DP:GQ:PL	0/1:93,86:179:99:2202,0,2241	18	0	1	0
chr11	26721693	26721693	C	T	exonic	SLC5A12	.	nonsynonymous SNV	SLC5A12:NM_178498:exon1:c.G22A:p.V8I	.	425	1060	36	1	0	38	0.0176089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0025	0.0203674	0.0088	0.0031	0.0022	0.0611	0.0032	0.0044	0.0079	0.0092	0.0085769	1326	154602	rs113908376	0.0055	0.0055	0.0053	0.0057	0.0777	0.0054	0.0053	0.0754	0.0745	0.0045	0.0026	0.0129	0.0777	0.0034	0.0415	0.0023	0.0088	0.0097	0.0059	0.0059	0.0059	0.0059	0.0662	0.0056	0.0055	0.0604	0.0582	0.0035	0	0.0031	0.0130	0.0662	0.0024	0.0442	0.0031	0.0090	0.0112	0.27	0.17069	T	0.246	0.23984	T	0.027	0.19556	B	0.015	0.17295	B	0.750577	0.09703	N	0.877530	1	0.08975	N	0.885	0.21608	L	-1.95	0.85003	D	-0.65	0.18877	N	0.04	0.03613	-0.9578	0.39589	T	0.086	0.33522	T	10	0.0024740994	0.00037	T	.	.	.	0.132	0.35948	.	.	0.163833314356	0.15978	0.06215875893013715	0.06155	0.154448843171	0.17448	0.238343030214	0.02643	T	0.006942	0.06364	T	-0.539797	0.00336	T	-0.4725	0.25246	T	0.00137920736496509	0.00014	T	0.448855	0.12628	T	0.033720206	0.03648	0.04206866	0.04925	0.033720206	0.03647	0.04206866	0.04925	-4.289	0.28023	T	.	.	0.072	0.07083	B	.;.	.;.	0.922954	0.12977	9.485	0.84574392258224262	0.15372	0.14310	0.18335	N	AEFI	0.172967	0.30002	N	-1.43860197420556	0.02308	0.1017523	-1.35497813986167	0.03747	0.1754482	0.25811658146829	0.18758	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	2.53	0.29594	0.132000	0.15716	0.811000	0.21752	-1.974000	0.00467	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.1026:0.6453:0.1004:0.1517	6.128	0.19406	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.044814	0.020202	0.046196	0.114035	0.050000	0.051724	0.015244	0.026515	0.05263	2091.83	36	chr11	26721693	.	C	T	2091.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.038;DP=821;ExcessHet=0.119;FS=0.576;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.486;SOR=0.635	GT:AD:DP:GQ:PL	0/1:65,40:105:99:1137,0,1829	17	0	2	0
chr11	28211077	28211077	A	G	exonic	METTL15	.	nonsynonymous SNV	METTL15:NM_001113528:exon4:c.A286G:p.T96A,METTL15:NM_001297775:exon4:c.A286G:p.T96A,METTL15:NM_152636:exon4:c.A286G:p.T96A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634	0.129238377371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.99	0.90584	D	0.848	0.92359	P	0.000000	0.84330	D	0.000000	1	0.81001	D	4.655	0.99382	H	0.45	0.56446	T	-4.88	0.81985	D	0.897	0.97317	0.474	0.90178	D	0.544	0.83204	D	9	0.9852787	0.98771	D	0.129238	0.81126	D	0.634	0.85975	0.953	0.99466	0.499535901811	0.49588	0.7960048190908843	0.79553	0.430806407657	0.43310	0.497930258512	0.38540	T	0.331991	0.70201	T	0.336046	0.85569	D	0.244931	0.85379	D	0.999648809432983	0.98300	D	0.989945	0.96848	D	0.97909456	0.99039	0.92334723	0.96633	0.97909456	0.99039	0.92334723	0.96634	-7.728	0.63811	D	.	.	0.792	0.83281	P	.;.;.	.;.;.	4.951032	0.81783	27.6	0.99849838115640233	0.92925	0.94836	0.62498	D	AEFGBI	0.735069	0.68100	D	0.88666688355533	0.91090	10.711	0.776938319703485	0.88149	9.474841	0.870059011931351	0.25397	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.31	5.31	0.75063	6.725000	0.74561	11.181000	0.88313	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.091	0.64513	506	0.75555	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1909.33	34	chr11	28211077	.	A	G	1909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=765;ExcessHet=0;FS=6.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-1.513;SOR=1.195	GT:AD:DP:GQ:PL	0/1:76,68:144:99:1923,0,2040	18	0	1	0
chr11	33085953	33085953	G	C	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832G:p.P611R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665	0.0232699585003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.947e-06	3.352e-05	2.892e-06	3.005e-06	2.823e-06	6.9e-07	4.7e-07	7.5e-07	2.1e-07	0	0	4.916e-05	0	0	0	2.823e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.002	0.79402	D	0.966	0.56202	D	0.933	0.66815	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.715	0.79425	M	.	.	.	-6.57	0.91912	D	0.728	0.72925	-0.1643	0.78566	T	0.492	0.80737	T	8	0.91936517	0.91292	D	0.02327	0.46221	T	0.665	0.87527	0.789	0.91142	0.640670019896	0.63770	0.7002528472095739	0.69966	1.92838328423	0.93098	0.900027453899	0.96443	D	0.479365	0.80880	T	0.269378	0.80385	D	0.149166	0.80131	D	0.99349582195282	0.84315	D	0.933007	0.75965	D	0.54552543	0.69706	0.597864	0.76646	0.54552543	0.69707	0.597864	0.76647	-9.097	0.68318	D	.	.	0.980	0.91141	P	.;.	.;.	5.174818	0.86744	29.0	0.99836858836699538	0.91800	0.99575	0.97606	D	AEFBI	0.884459	0.81417	D	0.890089964662944	0.91266	10.79715	0.902993899058487	0.95702	13.88054	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	1687.47	64	chr11	33085953	.	G	C	1687.47	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.54;DP=1238;ExcessHet=2.1469;FS=207.137;InbreedingCoeff=-0.4074;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=1.53;SOR=9.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,44:114:99:0|1:33085952_T_C:843,0,2115:33085952	8	0	1	10
chr11	35206198	35206198	A	G	exonic	CD44	.	nonsynonymous SNV	CD44:NM_001001389:exon10:c.A1240G:p.I414V,CD44:NM_000610:exon11:c.A1369G:p.I457V	.	428	1048	42	4	0	50	0.0232992	.	.	.	724415	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.018	.	0.0012	0.00419329	0.0051	9.612e-05	0.0025	0	0	0.0019	0.0132	0.0271	0.0043984	680	154602	rs140510483	0.0027	0.0027	0.0018	0.0035	0.0261	0.0026	0.0026	0.0252	0.0248	0.0003	0.0015	0.0031	5.056e-05	3.745e-05	0.0172	0.0011	0.0036	0.0261	0.0018	0.0018	0.0013	0.0023	0.0207	0.0016	0.0015	0.0175	0.0162	0.0002	0	0.0014	0.0040	0	0	0.0306	0.0017	0.0014	0.0207	0.212	0.19854	T	1.0	0.12211	T	0.0	0.02946	B	0.001	0.06944	B	0.086558	0.20581	N	0.455727	0.950778	0.37710	D	0.255	0.09829	N	2.84	0.20387	T	-0.42	0.14193	N	0.113	0.10769	-1.0358	0.18606	T	0.094	0.35604	T	10	0.0032230914	0.00055	T	.	.	.	0.028	0.06331	.	.	0.146414634003	0.14194	0.10272548602318497	0.10202	0.0387608282298	0.04121	0.248365327716	0.03598	T	0.24548	0.61479	T	-0.628595	0.00098	T	-0.656113	0.08531	T	0.00108250113076798	0.00010	T	0.714029	0.32905	T	0.032998156	0.03432	0.046259083	0.06409	0.032998156	0.03432	0.046259083	0.06409	-3.36	0.14523	T	.	.	0.073	0.06433	B	.;.;.;.	.;.;.;.	-0.171630	0.03238	0.545	0.5231850831793089	0.04725	0.06643	0.12660	N	AEFGBHCI	0.089151	0.18071	N	-1.09676346202009	0.06702	0.3092912	-1.20747916356194	0.05789	0.2768153	0.999463579887593	0.39843	0.614807	0.35715	0	0.577304	0.33150	0	0.602189	0.34648	0	0.645948	0.59608	0	.	.	4.76	-3.36	0.04606	-0.931000	0.04076	0.078000	0.14353	-0.635000	0.04468	0.175000	0.24000	0.001000	0.17328	0.002000	0.04165	0.445:0.0:0.555:0.0	10.890	0.46198	883	0.28872	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.021652	0.020202	0.010870	0.020468	0.000000	0.017241	0.024390	0.053030	0.02632	1432.33	33	chr11	35206198	.	A	G	1432.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.524;SOR=0.637	GT:AD:DP:GQ:PL	0/1:40,58:98:99:1446,0,854	18	0	1	0
chr11	47161628	47161628	C	T	exonic	C11orf49	.	nonsynonymous SNV	C11orf49:NM_001278222:exon8:c.C959T:p.S320L,C11orf49:NM_001003677:exon9:c.C1004T:p.S335L,C11orf49:NM_024113:exon9:c.C986T:p.S329L	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0700987975551	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1193673822	2.055e-06	2.052e-06	2.725e-06	1.377e-06	2.324e-05	5.5e-07	1.5e-07	3.86e-06	1.44e-06	0	0	0	0	0	0	8.998e-07	0	2.324e-05	6.565e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	1.89	0.23688	T	-2.04	0.47175	N	0.731	0.73465	-0.8913	0.48820	T	0.166	0.50453	T	10	0.7145424	0.73260	D	0.070099	0.70912	D	0.219	0.51417	.	.	0.478068462777	0.47436	0.3837148648925186	0.38286	0.149056855963	0.16805	.	.	.	0.134533	0.46584	T	-0.00415443	0.51081	T	-0.143114	0.59847	T	0.943623781204224	0.61897	D	0.874313	0.58483	D	0.44275248	0.63580	0.4186141	0.65879	0.44275248	0.63580	0.4186141	0.65879	-4.478	0.30784	T	.	.	0.278	0.51254	B	.;.	.;.	4.230176	0.64047	24.7	0.99746516546685893	0.83927	0.95978	0.66984	D	ALL	0.860520	0.77839	D	0.689918659851674	0.78971	6.980406	0.631138333983927	0.77213	6.63622	0.999999999999997	0.74766	0.631981	0.41245	0	0.779548	0.99637	0	0.779548	0.98927	0	0.636	0.56748	0	.	.	5.24	5.24	0.72863	6.487000	0.73540	7.663000	0.64347	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.197000	0.21808	0.0:1.0:0.0:0.0	19.379	0.94513	23	0.98420	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	404.33	27	chr11	47161628	.	C	T	404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=591;ExcessHet=0;FS=3.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.278;SOR=1.609	GT:AD:DP:GQ:PL	0/1:17,14:31:99:418,0,421	18	0	1	0
chr11	47584332	47584332	G	C	exonic	NDUFS3	.	nonsynonymous SNV	NDUFS3:NM_004551:exon7:c.G646C:p.V216L	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0350321696625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0034	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	4.475e-05	3.845e-05	0	0	0.0002	0.0002	0.0001	9.318e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.783	0.03262	T	0.593	0.08134	T	0.004	0.12183	B	0.009	0.14300	B	0.000000	0.84330	D	0.052661	1	0.81001	D	0.54	0.13725	N	-1.0	0.76037	T	-0.51	0.15986	N	0.109	0.09490	-0.8237	0.53702	T	0.214	0.57586	T	10	0.21773726	0.38394	T	0.035032	0.56079	D	0.372	0.69102	0.312	0.28612	0.820884894196	0.81919	0.4530228563642822	0.45220	0.297120083394	0.32095	0.764023125172	0.76529	T	0.151429	0.49137	T	-0.0315146	0.47197	T	-0.283045	0.46490	T	0.776293694972992	0.44821	D	.	.	.	0.2676909	0.49841	0.20849794	0.45154	0.2676909	0.49841	0.20849794	0.45153	-2.162	0.03860	T	.	.	0.187	0.40360	B	.	.	2.544374	0.32919	19.19	0.96720140085668693	0.30847	0.95990	0.67036	D	AEFDGBCI	0.888539	0.82176	D	-0.185157986660485	0.33751	1.918463	0.0633119293219945	0.42721	2.588866	0.999999621208179	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	5.095000	0.64363	8.715000	0.78146	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.210000	0.22183	0.0:0.0:1.0:0.0	20.177	0.98187	10	0.99061	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	360.58	38	chr11	47584332	.	G	C	360.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-4.136;DP=928;ExcessHet=0.119;FS=424.778;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.6;ReadPosRankSum=-0.75;SOR=7.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,17:106:53:0|1:47584332_G_C:53,0,2870:47584332	16	0	2	1
chr11	47750927	47750927	C	T	exonic	FNBP4	.	nonsynonymous SNV	FNBP4:NM_001318339:exon6:c.G901A:p.E301K,FNBP4:NM_015308:exon6:c.G895A:p.E299K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0180584413184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.18	0.29442	T	0.997	0.70673	D	0.985	0.76457	D	0.000286	0.46274	D	0.223492	0.999778	0.48980	D	1.75	0.45442	L	1.4	0.33630	T	-0.99	0.26200	N	0.635	0.64818	-0.9464	0.41582	T	0.147	0.47273	T	10	0.55040175	0.64222	D	0.018058	0.39994	T	0.095	0.27398	0.218	0.13932	0.335916738318	0.33200	0.21176197549124928	0.21092	0.757533882034	0.64076	0.703738093376	0.67685	T	0.001996	0.01403	T	-0.104852	0.35621	T	-0.388389	0.34739	T	0.803231973505413	0.46574	D	.	.	.	0.17693844	0.38634	0.1512832	0.35643	0.17693844	0.38633	0.1512832	0.35642	-3.906	0.22393	T	.	.	0.511	0.65091	A	.	.	4.456368	0.69317	25.4	0.99885712033935781	0.96126	0.98207	0.80539	D	AEFDBI	0.503960	0.53573	D	0.17705702628314	0.50099	3.203209	0.155988695269315	0.47460	2.975917	0.12158219883628	0.16894	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	4.78	0.60666	5.550000	0.66974	7.671000	0.64778	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9304:0.0:0.0696	14.684	0.68645	14	0.98855	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1285.33	39	chr11	47750927	.	C	T	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.179;DP=741;ExcessHet=0;FS=3.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=-1.8;SOR=0.397	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1299,0,943	18	0	1	0
chr11	47980978	47980980	GCT	-	exonic	PTPRJ	.	nonframeshift deletion	PTPRJ:NM_001098503:exon1:c.66_68del:p.L28del,PTPRJ:NM_002843:exon1:c.66_68del:p.L28del	Colon cancer, somatic	322	1192	8	0	0	8	0.00334448	.	.	.	3511870	PTPRJ-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	0	3.84e-05	1	26028	rs747484779	0.0005	0.0063	0.0004	0.0005	0.0020	0.0004	0.0004	0.0012	0.0010	0.0006	0.0020	0.0013	0.0013	0.0014	0.0011	0.0004	0.0007	0.0004	5.448e-05	0.0002	5.308e-05	5.596e-05	0.0004	2.639e-05	1.889e-05	7.424e-05	3.079e-05	4.938e-05	0	6.709e-05	0	0.0004	0.0001	0	3.015e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011416	0.000000	0.024390	0.014706	0.000000	0.000000	0.000000	0.017857	0.02778	50.59	10	chr11	47980977	.	CGCT	C	50.59	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.282;DP=98;ExcessHet=0;FS=0;InbreedingCoeff=-0.0776;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=5.62;ReadPosRankSum=-0.812;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,2:9:63:63,0,288	17	0	1	1
chr11	55650977	55650977	G	C	exonic	OR4S2	.	nonsynonymous SNV	OR4S2:NM_001004059:exon1:c.G74C:p.C25S	.	568	950	3	1	0	5	0.00262467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.00276799925992	.	0.00119808	0.0008	0	0.0003	0	0	0	0.0012	0.0056	0.0006598	102	154602	rs529689088	0.0004	0.0003	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0043	0	0	0	2.907e-05	0	0.0006	4.367e-05	0.0007	0.0048	0.0002	0.0002	0.0002	0.0002	0.0036	0.0001	0.0001	0.0022	0.0018	0	0	0	0	0.0005	0	0	0.0001	0.0005	0.0036	0.055	0.38407	T	0.055	0.46862	T	0.913	0.50474	P	0.367	0.43430	B	0.000017	0.62929	D	0.000000	0.999991	0.08975	N	0.86	0.21358	L	4.1	0.02944	T	-4.86	0.81187	D	0.097	0.07811	-0.9005	0.47942	T	0.007	0.02360	T	10	0.008666813	0.00196	T	0.002768	0.05752	T	0.153	0.40148	0.621	0.75576	0.229924730088	0.22615	0.1645564805620609	0.16375	0.0428451685236	0.04625	0.266961395741	0.05748	T	0.039312	0.25147	T	-0.510441	0.00499	T	-0.504347	0.21897	T	0.130657562357949	0.15443	T	0.569643	0.20265	T	0.3095304	0.53745	0.39341882	0.64062	0.3095304	0.53745	0.39341882	0.64062	-3.668	0.18847	T	.	.	0.207	0.43407	B	.;.	.;.	2.060200	0.26197	17.03	0.90126243399129369	0.19406	0.08186	0.14147	N	AEFI	0.081200	0.16429	N	-0.218637914077587	0.32369	1.824765	-0.245837291895151	0.29915	1.679933	2.68029590390478E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.36	4.39	0.52211	-0.195000	0.09546	-10.624000	0.00682	0.650000	0.52971	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.0887:0.0:0.5928:0.3185	5.995	0.18721	151	0.94052	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	3730.42	34	chr11	55650977	.	G	C	3730.42	.	AC=2;AF=0.059;AN=34;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.059;MQ=60;QD=31.09;SOR=0.833	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3756,360,0	16	1	0	2
chr11	55773543	55773543	G	A	exonic	OR5D13	.	nonsynonymous SNV	OR5D13:NM_001001967:exon1:c.G106A:p.V36I	.	435	991	89	7	0	103	0.0494005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0094	0.0071885	0.0094	0.0038	0.0055	0.0002	0.0029	0.0124	0.0165	0.0105	0.0093078	1439	154602	rs147031394	0.0096	0.0096	0.0093	0.0099	0.0541	0.0095	0.0094	0.0492	0.0472	0.0040	0.0080	0.0194	2.52e-05	0.0024	0.0541	0.0099	0.0116	0.0108	0.0090	0.0090	0.0092	0.0087	0.0143	0.0086	0.0084	0.0128	0.0122	0.0041	0	0.0143	0.0214	0.0002	0.0018	0.0408	0.0115	0.0133	0.0123	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.859837	0.08903	N	0.894418	1	0.08975	N	-1.24	0.00794	N	.	.	.	.	.	.	.	.	-0.9992	0.30143	T	0.000	0.00075	T	10	0.0063220263	0.00143	T	.	.	.	.	.	.	.	.	.	0.026461992922624716	0.02596	.	.	0.204620480537	0.00603	T	9.57E-4	0.00501	T	-0.821085	0.00005	T	-0.94182	0.00289	T	0.00201569703242085	0.00021	T	0.758424	0.38228	T	0.03243204	0.03267	0.031081052	0.01648	0.03243204	0.03267	0.031081052	0.01647	-1.204	0.01256	T	.	.	0.070	0.03625	B	.	.	-1.707520	0.00192	0.003	0.086283404533563965	0.00071	0.00206	0.01180	N	AEFI	0.014591	0.00239	N	-1.7650134367774	0.00637	0.02745338	-1.79490174311532	0.00776	0.03459685	1.58383268683026E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.52	-4.35	0.03402	-2.708000	0.00890	-10.712000	0.00673	-2.110000	0.00390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3984:0.0:0.342:0.2596	4.036	0.09214	154	0.93967	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.036757	0.015152	0.031250	0.052632	0.050000	0.077586	0.021341	0.037879	0.02632	1623.33	33	chr11	55773543	.	G	A	1623.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=1.61;SOR=0.639	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1637,0,1766	18	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	775.27	278	chr11	56375950	.	A	*	775.27	.	AC=16;AF=0.421;AN=38;BaseQRankSum=5.68;DP=4836;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9009;MLEAC=16;MLEAF=0.421;MQ=59.99;MQRankSum=0;QD=0.17;ReadPosRankSum=0.109;SOR=1.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,62:327:99:0|1:56375918_A_G:1806,0,10941:56375918	3	0	16	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	490.26	278	chr11	56375951	.	T	*	490.26	.	AC=16;AF=0.444;AN=36;BaseQRankSum=4.1;DP=4828;ExcessHet=38.2876;FS=6.951;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.11;ReadPosRankSum=0.061;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,62:327:99:0|1:56375918_A_G:1806,0,10941:56375918	2	0	16	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	797.75	278	chr11	56375953	.	A	*	797.75	.	AC=16;AF=0.444;AN=36;BaseQRankSum=3.15;DP=4825;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.18;ReadPosRankSum=0.371;SOR=1.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,62:327:99:0|1:56375918_A_G:1806,0,10941:56375918	2	0	16	1
chr11	57378743	57378743	G	A	exonic	PRG3	.	stopgain	PRG3:NM_006093:exon4:c.C445T:p.Q149X	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334361	0.04150	N	1.447220	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.056	0.02759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359058	0.87180	D	0.277985	0.87014	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.792925	0.93577	33	0.98716453762878331	0.45127	0.03783	0.09104	N	AEFDBCI	0.034326	0.04233	N	0.0509460996898405	0.44186	2.697285	-0.268106081986039	0.29156	1.631223	0.104853178999835	0.16487	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.27	3.32	0.37134	0.016000	0.13272	-3.862000	0.02488	0.590000	0.31872	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0925:0.0:0.7295:0.178	6.573	0.21747	329	0.86514	C-type lectin-like|C-type lectin-like|C-type lectin-like|Eosinophil major basic protein, C-type lectin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1857.33	35	chr11	57378743	.	G	A	1857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.882;DP=776;ExcessHet=0;FS=0.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.95;SOR=0.596	GT:AD:DP:GQ:PL	0/1:66,79:145:99:1871,0,1698	18	0	1	0
chr11	57476823	57476823	C	T	exonic	RTN4RL2	.	nonsynonymous SNV	RTN4RL2:NM_178570:exon3:c.C1175T:p.A392V	.	396	1108	17	1	0	19	0.00850112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0031	0.00479233	0.0086	0.0014	0.0142	0	0.0255	0.0072	0.02	0.0127	0.0002305	6	26028	rs141304388	0.0063	0.0064	0.0060	0.0065	0.0114	0.0061	0.0061	0.0107	0.0105	0.0007	0.0114	0.0026	0	0.0231	0.0058	0.0054	0.0071	0.0113	0.0066	0.0066	0.0054	0.0078	0.0104	0.0063	0.0061	0.0091	0.0086	0.0013	0.0329	0.0104	0.0037	0.0006	0.0274	0.0068	0.0058	0.0038	0.0097	0.011	0.55530	D	0.328	0.18675	T	0.018	0.17786	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	0.25	0.59449	T	-1.28	0.32185	N	0.125	0.11769	-1.0431	0.16383	T	0.071	0.29034	T	9	0.0023450553	0.00035	T	.	.	.	0.014	0.01968	.	.	0.416446257289	0.41261	0.26049700544724286	0.25963	1.06338473455	0.76549	0.735802829266	0.72355	T	0.098477	0.40233	T	-0.495055	0.00609	T	-0.472858	0.25209	T	0.0094299413240383	0.00121	T	0.580242	0.20999	T	0.150981	0.34345	0.21442443	0.45992	0.150981	0.34345	0.21442443	0.45991	-4.629	0.32534	T	.	.	0.066	0.02065	B	.	.	1.751098	0.22276	15.55	0.97470050534828734	0.34131	0.01686	0.05377	N	ALL	0.040239	0.05956	N	-0.862290915450808	0.11748	0.5687231	-0.821535014336905	0.13974	0.7277858	0.999999998838283	0.74766	0.766844	0.99359	0	0.218748	0.04544	0	0.851219	0.99655	0	0.56751	0.32155	0	.	.	2.73	1.8	0.24069	0.032000	0.13620	0.301000	0.16978	0.446000	0.21189	0.000000	0.06391	0.917000	0.28245	0.911000	0.44643	0.0:0.8737:0.0:0.1263	8.397	0.31727	71	0.96981	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.000000	0.001359	0.002924	0.000000	0.008621	0.021341	0.007576	0.05263	2488.83	37	chr11	57476823	.	C	T	2488.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.601;DP=872;ExcessHet=0.119;FS=2.573;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.652;SOR=0.515	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1265,0,1168	17	0	2	0
chr11	58955717	58955717	G	A	exonic	GLYATL1	.	nonsynonymous SNV	GLYATL1:NM_001220496:exon7:c.G599A:p.R200H,GLYATL1:NM_080661:exon7:c.G692A:p.R231H,GLYATL1:NM_001220494:exon8:c.G599A:p.R200H,GLYATL1:NM_001354699:exon8:c.G599A:p.R200H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.003162240704	.	.	2.473e-05	0	8.645e-05	0	0	1.499e-05	0	6.056e-05	1.94e-05	3	154602	rs768018652	4.583e-05	4.583e-05	5.036e-05	4.125e-05	6.708e-05	3.661e-05	3.347e-05	4.091e-05	3.741e-05	2.987e-05	6.708e-05	0	0	3.744e-05	0	5.216e-05	3.311e-05	1.159e-05	6.572e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.057	0.39575	T	0.05	0.55341	T	0.001	0.14184	B	0.005	0.13708	B	0.563429	0.11312	N	0.721973	1	0.08975	N	1.985	0.53793	M	2.13	0.19588	T	-3.34	0.67824	D	0.135	0.19593	-0.9923	0.32012	T	0.045	0.19316	T	10	0.43254614	0.57585	T	0.003162	0.06906	T	0.034	0.08419	0.784	0.90768	0.233785782151	0.22967	0.2913123528685464	0.29044	0.0813420606083	0.09155	0.205710232258	0.00642	T	0.19323	0.54864	T	-0.372134	0.03487	T	-0.596474	0.13109	T	0.0979728251695633	0.12133	T	0.684232	0.29249	T	0.062453534	0.13045	0.07114148	0.15198	0.062453534	0.13045	0.07114148	0.15198	-7.732	0.61118	D	.	.	0.086	0.13597	B	.;.;.	.;.;.	0.447065	0.08170	4.906	0.94267061017102849	0.24551	0.01923	0.05872	N	AEFBI	0.333013	0.43224	N	-1.09209530830875	0.06787	0.3134895	-1.21100008086377	0.05732	0.2739678	8.40143870920467E-5	0.04703	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	2.77	-0.588	0.11101	0.064000	0.14310	-0.392000	0.09469	-0.362000	0.05498	0.016000	0.19238	0.000000	0.08366	0.007000	0.07825	0.2804:0.0:0.5019:0.2177	2.804	0.05090	462	0.78611	Glycine N-acyltransferase, N-terminal;.;Glycine N-acyltransferase, 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	.	.	.	.	.	.	.	.	0.02632	1153.33	34	chr11	58955717	.	G	A	1153.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=751;ExcessHet=0;FS=7.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.434;SOR=0.883	GT:AD:DP:GQ:PL	0/1:70,47:117:99:1167,0,1770	18	0	1	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	7196.89	114	chr11	61740531	.	T	C	7196.89	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.001;DP=1904;ExcessHet=31.086;FS=256.929;InbreedingCoeff=-0.8097;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.515;SOR=12.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,39:105:99:0|1:61740527_G_C:587,0,1200:61740527	2	0	17	0
chr11	62518249	62518249	G	T	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.C16168A:p.P5390T,AHNAK:NM_001346446:exon5:c.C16168A:p.P5390T,AHNAK:NM_001620:exon5:c.C16168A:p.P5390T	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0005	0.0109824	0.0055	0.0002	0.0046	0.0472	0.0048	0.0020	0.0066	0.0019	0.0050193	776	154602	rs77640901	0.0020	0.0020	0.0021	0.0020	0.0402	0.0020	0.0019	0.0386	0.0379	0.0001	0.0035	0.0010	0.0402	0.0038	0.0009	0.0005	0.0031	0.0027	0.0027	0.0027	0.0020	0.0034	0.0460	0.0025	0.0024	0.0412	0.0393	0.0002	0	0.0010	0.0017	0.0460	0.0065	0	0.0006	0.0019	0.0058	0.233	0.18122	T	0.007	0.69154	D	1.0	0.90584	D	0.998	0.88582	D	0.001357	0.39310	U	0.000000	1	0.19853	N	2.895	0.83812	M	3.41	0.05574	T	-4.3	0.76496	D	0.163	0.17140	-1.0966	0.04528	T	0.006	0.01981	T	10	0.003403753	0.00060	T	.	.	.	0.103	0.29403	.	.	0.246215685461	0.24236	0.3357515774788833	0.33488	0.195258257333	0.21862	0.310725390911	0.12016	T	0.500371	0.82100	D	-0.555638	0.00270	T	-0.535874	0.18705	T	0.0872030859347765	0.10883	T	0.725427	0.33942	T	0.07978849	0.18248	0.091882475	0.21627	0.07978849	0.18248	0.091882475	0.21626	-8.371	0.63572	D	.	.	0.165	0.36396	B	.	.	1.947550	0.24740	16.51	0.99111433079865141	0.52725	0.92868	0.56743	D	AEFBHI	.	.	.	0.461704970909637	0.64870	4.751588	0.322527646077659	0.56866	3.850701	0.99995365947816	0.48110	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.69	3.75	0.42236	1.816000	0.38630	.	.	0.606000	0.46413	0.981000	0.35396	1.000000	0.68203	0.916000	0.45140	0.1775:0.1856:0.6369:0.0	5.014	0.13670	217	0.91564	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.015244	0.007576	0.02632	2637.33	34	chr11	62518249	.	G	T	2637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.701;DP=1209;ExcessHet=0;FS=1.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.108;SOR=0.615	GT:AD:DP:GQ:PL	0/1:98,100:198:99:2651,0,2554	18	0	1	0
chr11	62519856	62519856	A	T	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.T14561A:p.V4854D,AHNAK:NM_001346446:exon5:c.T14561A:p.V4854D,AHNAK:NM_001620:exon5:c.T14561A:p.V4854D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.174805795685	.	0.000199681	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs574242504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.567e-06	6.562e-06	1.285e-05	0	6.537e-05	0	0	.	.	0	0	6.537e-05	0	0	0	0	0	0	0	0.003	0.68238	D	0.001	0.83351	D	0.998	0.73220	D	0.964	0.71005	D	0.286433	0.14849	N	0.562098	0.999957	0.81001	D	2.095	0.58118	M	5.88	0.00632	T	-4.82	0.80851	D	0.419	0.45898	-0.8268	0.53505	T	0.012	0.04700	T	10	0.24324721	0.41535	T	0.174806	0.85108	D	0.235	0.53788	0.291	0.25241	0.176091768786	0.17195	0.3610503862045302	0.36019	0.237155302864	0.26256	0.33180052042	0.15206	T	0.596713	0.87015	D	-0.0232441	0.48391	T	-0.271165	0.47701	T	0.981940746307373	0.74202	D	0.951905	0.81545	D	0.72149	0.79244	0.71669686	0.83277	0.72149	0.79245	0.71669686	0.83278	-16.579	0.98506	D	.	.	0.672	0.71815	P	.	.	2.728537	0.35709	19.97	0.96909163622555783	0.31570	0.97577	0.75664	D	AEFBI	.	.	.	0.537611485270956	0.69330	5.341763	0.461568192911231	0.65464	4.827022	0.992794835264051	0.32971	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.58	4.58	0.56077	2.396000	0.44122	.	.	0.677000	0.82338	0.091000	0.22601	0.997000	0.33255	0.997000	0.79791	1.0:0.0:0.0:0.0	13.639	0.61709	219	0.91485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2408.33	34	chr11	62519856	.	A	T	2408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.595;DP=1277;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.18;SOR=0.738	GT:AD:DP:GQ:PL	0/1:93,90:183:99:2422,0,2545	18	0	1	0
chr11	62523507	62523507	T	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A10910G:p.N3637S,AHNAK:NM_001346446:exon5:c.A10910G:p.N3637S,AHNAK:NM_001620:exon5:c.A10910G:p.N3637S	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0004	0.0109824	0.0049	0.0002	0.0002	0.0460	0.0048	0.0017	0.0066	0.0021	0.0044566	689	154602	rs117618959	0.0018	0.0018	0.0018	0.0018	0.0382	0.0017	0.0017	0.0366	0.0360	2.987e-05	0.0002	0.0010	0.0382	0.0038	0.0010	0.0004	0.0032	0.0027	0.0025	0.0025	0.0019	0.0031	0.0457	0.0023	0.0022	0.0409	0.0391	0.0001	0	0.0003	0.0017	0.0457	0.0065	0	0.0005	0.0019	0.0056	0.32	0.13566	T	0.377	0.16134	T	0.001	0.07471	B	0.001	0.04355	B	0.010690	0.29823	N	0.308720	1	0.81001	D	-0.805	0.01590	N	4.63	0.01817	T	-0.17	0.09627	N	0.044	0.01658	-0.8810	0.49681	T	0.000	0.00114	T	10	0.0018412769	0.00025	T	.	.	.	0.025	0.05312	.	.	0.0297737177859	0.01360	0.008809137951695783	0.00844	0.0231338633503	0.02342	0.250497043133	0.03820	T	0.075767	0.35257	T	-0.747711	0.00018	T	-0.811041	0.01641	T	0.00777662520234417	0.00091	T	0.660434	0.26965	T	0.023315528	0.01061	0.024059497	0.00420	0.023315528	0.01061	0.024059497	0.00420	-5.798	0.44557	T	.	.	0.055	0.00412	B	.	.	0.201218	0.05860	2.300	0.47571279763658181	0.03900	0.72455	0.35463	D	AEFBI	.	.	.	-1.15912765915773	0.05632	0.2572289	-1.07069229536115	0.08281	0.406499	0.269625343204805	0.18878	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.93	1.48	0.21900	2.662000	0.46431	.	.	-0.825000	0.02924	0.861000	0.30630	0.000000	0.08366	0.001000	0.02609	0.1454:0.0852:0.0:0.7693	5.944	0.18448	237	0.90758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.007576	0.02632	4512.33	34	chr11	62523507	.	T	C	4512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=1475;ExcessHet=0;FS=6.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.753;SOR=0.908	GT:AD:DP:GQ:PL	0/1:157,161:318:99:4526,0,4141	18	0	1	0
chr11	62531125	62531125	C	A	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.G3292T:p.V1098F,AHNAK:NM_001346446:exon5:c.G3292T:p.V1098F,AHNAK:NM_001620:exon5:c.G3292T:p.V1098F	.	424	1089	9	0	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0005	0.0115815	0.0056	0.0002	0.0046	0.0478	0.0048	0.0020	0.0066	0.0020	0.0051358	794	154602	rs79639272	0.0021	0.0021	0.0021	0.0020	0.0408	0.0020	0.0020	0.0392	0.0385	0.0002	0.0036	0.0010	0.0408	0.0038	0.0009	0.0005	0.0032	0.0028	0.0028	0.0028	0.0021	0.0035	0.0475	0.0026	0.0025	0.0426	0.0407	0.0003	0	0.0010	0.0017	0.0475	0.0065	0	0.0006	0.0019	0.0066	0.035	0.43708	D	0.021	0.58089	D	0.985	0.61118	D	0.735	0.55480	P	.	.	.	.	1	0.81001	D	2.415	0.69758	M	3.26	0.06681	T	-2.23	0.50012	N	0.204	0.22614	-1.0366	0.18357	T	0.005	0.01615	T	9	0.0037706494	0.00070	T	.	.	.	0.128	0.35103	.	.	0.292423486923	0.28857	0.33009834749514383	0.32922	0.200112512736	0.22413	0.282345294952	0.07821	T	0.553383	0.84918	D	-0.555645	0.00270	T	-0.535152	0.18775	T	0.0224997319302273	0.00965	T	0.935706	0.75920	D	0.12510465	0.29336	0.16794418	0.38718	0.12510465	0.29336	0.16794418	0.38717	-8.012	0.61152	D	.	.	0.111	0.21578	B	.	.	1.418313	0.18349	13.69	0.99012981643108322	0.50399	0.61434	0.31483	D	AEFBCI	.	.	.	0.0667086396812698	0.44915	2.756941	-0.0490194908403563	0.37533	2.198863	0.999994213652053	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	1.689000	0.37319	.	.	-0.192000	0.09343	0.002000	0.15269	0.000000	0.08366	0.262000	0.23568	0.0:1.0:0.0:0.0	16.745	0.85329	270	0.89404	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.018293	0.007576	0.02632	2470.33	42	chr11	62531125	.	C	A	2470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.642;DP=1012;ExcessHet=0;FS=2.539;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.87;SOR=0.916	GT:AD:DP:GQ:PL	0/1:107,93:200:99:2484,0,2992	18	0	1	0
chr11	62775854	62775854	C	T	exonic	TAF6L	.	nonsynonymous SNV	TAF6L:NM_006473:exon2:c.C71T:p.T24M	.	437	1077	8	0	0	8	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0067	0.00259585	0.0085	0.0018	0.0009	0.0001	0.0256	0.0109	0.0067	0.0061	0.0083246	1287	154602	rs76769410	0.0093	0.0093	0.0093	0.0092	0.0101	0.0092	0.0091	0.0100	0.0099	0.0013	0.0005	0.0036	0.0001	0.0241	0.0028	0.0101	0.0065	0.0053	0.0075	0.0075	0.0065	0.0085	0.0104	0.0071	0.0070	0.0097	0.0095	0.0019	0	0.0009	0.0017	0	0.0281	0.0034	0.0104	0.0047	0.0054	0.022	0.48642	D	0.092	0.53426	T	0.065	0.23521	B	0.017	0.18140	B	0.001303	0.39449	N	0.211038	0.54244	0.32065	D	-0.255	0.03828	N	0.98	0.42122	T	0.76	0.33798	N	0.336	0.37717	-1.0945	0.04824	T	0.037	0.16073	T	10	0.010244608	0.00229	T	.	.	.	0.022	0.04323	.	.	0.165150595986	0.16160	0.19382726875795983	0.19300	0.733917181997	0.62870	0.656135320663	0.60857	T	0.036	0.24012	T	-0.493995	0.00618	T	-0.47069	0.25441	T	0.018789644567081	0.00591	T	0.816518	0.47811	T	0.030123295	0.02623	0.061857447	0.12010	0.030123295	0.02623	0.061857447	0.12010	-9.335	0.69827	D	.	.	0.122	0.25364	B	.;.;.	.;.;.	3.001778	0.40112	21.1	0.92074278723939496	0.21421	0.91142	0.52942	D	AEFBI	0.267678	0.38433	N	-0.282320487968589	0.29831	1.657827	-0.0950036091026644	0.35597	2.06131	0.539633930168457	0.21242	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.78	3.86	0.43689	3.428000	0.52560	.	.	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.871000	0.41478	0.0:0.8078:0.0:0.1922	7.437	0.26336	524	0.74079	TATA box binding protein associated factor (TAF)|TATA box binding protein associated factor (TAF);TATA box binding protein associated factor (TAF)|TATA box binding protein associated factor (TAF);TATA box binding protein associated factor (TAF)|TATA box binding protein associated factor (TAF)	.	.	.	.	rs76769410	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.007576	0.02632	2587.33	33	chr11	62775854	.	C	T	2587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.34;DP=850;ExcessHet=0;FS=1.697;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.108;SOR=0.567	GT:AD:DP:GQ:PL	0/1:103,104:207:99:2601,0,2544	18	0	1	0
chr11	64219750	64219750	C	G	exonic	FERMT3	.	nonsynonymous SNV	FERMT3:NM_001382363:exon8:c.C500G:p.T167S,FERMT3:NM_001382364:exon8:c.C500G:p.T167S,FERMT3:NM_001382361:exon9:c.C1040G:p.T347S,FERMT3:NM_001382362:exon9:c.C1040G:p.T347S,FERMT3:NM_031471:exon9:c.C1040G:p.T347S,FERMT3:NM_178443:exon9:c.C1040G:p.T347S,FERMT3:NM_001382448:exon10:c.C1040G:p.T347S	Leukocyte adhesion deficiency, type III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0390451979734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.017	0.60337	D	0.047	0.21998	B	0.154	0.34351	B	0.001184	0.39899	N	0.204050	0.997383	0.43845	D	1.73	0.44655	L	0.73	0.50721	T	-2.92	0.61129	D	0.299	0.35514	-0.8867	0.49215	T	0.145	0.46805	T	10	0.20401114	0.36577	T	0.039045	0.58582	D	0.097	0.27909	0.599	0.72984	0.477762074677	0.47404	0.3474227908361918	0.34656	1.06175170553	0.76505	0.60853600502	0.54108	T	0.772185	0.93911	D	-0.105914	0.35445	T	-0.389915	0.34562	T	0.9439297914505	0.61957	D	0.675332	0.28377	T	0.2995528	0.52865	0.19008537	0.42392	0.2995528	0.52865	0.19008537	0.42391	-2.01	0.05891	T	0.23109210882337786	0.31271	0.261	0.49596	B	.;.	.;.	3.869018	0.56156	23.7	0.98449055046877743	0.41598	0.96505	0.69474	D	AEFGBHCI	0.498384	0.53251	N	-0.195486798289782	0.33322	1.889151	-0.161873604216043	0.32953	1.880032	0.999929038199504	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.711	0.71501	0	.	.	3.68	2.76	0.31527	4.952000	0.63320	7.546000	0.60178	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.644000	0.32530	0.0:0.8882:0.0:0.1118	8.767	0.33870	645	0.63593	FERM central domain|Band 4.1 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2111.33	35	chr11	64219750	.	C	G	2111.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=897;ExcessHet=0;FS=0.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=-0.85;SOR=0.801	GT:AD:DP:GQ:PL	0/1:58,81:139:99:2125,0,1314	18	0	1	0
chr11	64320780	64320780	G	T	exonic	PRDX5	.	nonsynonymous SNV	PRDX5:NM_001358511:exon2:c.G291T:p.K97N,PRDX5:NM_001358516:exon3:c.G270T:p.K90N,PRDX5:NM_012094:exon3:c.G426T:p.K142N	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0021	0.00339457	0.0039	0.0010	0.0014	0	0.0073	0.0035	0.0022	0.0098	0.0036416	563	154602	rs142314160	0.0030	0.0030	0.0028	0.0033	0.0108	0.0030	0.0029	0.0090	0.0088	0.0006	0.0010	0.0129	0	0.0059	0.0108	0.0023	0.0038	0.0095	0.0024	0.0024	0.0023	0.0025	0.0081	0.0022	0.0021	0.0061	0.0054	0.0005	0	0.0012	0.0118	0	0.0062	0.0034	0.0025	0.0047	0.0081	0.999	0.01930	T	0.914	0.02926	T	0.0	0.02946	B	0.002	0.06944	B	0.931437	0.08418	N	0.970693	1	0.08975	N	0.135	0.08676	N	0.87	0.46412	T	1.04	0.01332	N	0.164	0.17278	-0.9995	0.30058	T	0.031	0.13286	T	10	0.0032073557	0.00054	T	.	.	.	0.042	0.11227	0.399	0.42753	0.162503812791	0.15892	0.7103360674987805	0.70975	0.135934299944	0.15331	0.306939780712	0.11444	T	0.10943	0.42330	T	-0.679651	0.00048	T	-0.741087	0.03845	T	0.00420612251847449	0.00045	T	0.867913	0.56927	D	0.19736712	0.41599	0.07585731	0.16741	0.19736712	0.41599	0.07585731	0.16741	-6.77	0.52336	T	.	.	0.130	0.27939	B	.	.	0.161592	0.05522	1.982	0.76430800272248767	0.11465	0.09661	0.15367	N	AEFGBCI	0.612336	0.60045	D	-1.39364366188361	0.02697	0.1194626	-1.4067633592384	0.03184	0.1480001	0.999999302266234	0.74766	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	4.66	-6.13	0.01937	-2.215000	0.01306	-3.144000	0.03024	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.235:0.1233:0.4619:0.1798	3.077	0.05874	641	0.64016	Redoxin|Thioredoxin 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	0.014099	0.000000	0.017663	0.005848	0.000000	0.017241	0.015244	0.022727	0.1053	5064.43	113	chr11	64320780	.	G	T	5064.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.139;DP=910;ExcessHet=0.7564;FS=3.929;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=1.32;SOR=0.532	GT:AD:DP:GQ:PL	0/1:29,58:87:99:1514,0,732	15	0	4	0
chr11	64349373	64349373	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon15:c.C2659T:p.R887W	.	426	1075	20	1	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.516876733271	.	0.00119808	0.0024	0.0008	0.0006	0	0.0079	0.0017	0.0024	0.0067	0.002044	316	154602	rs149017597	0.0021	0.0021	0.0020	0.0023	0.0058	0.0021	0.0020	0.0054	0.0052	0.0004	0.0004	0.0013	2.519e-05	0.0059	0.0055	0.0019	0.0021	0.0058	0.0016	0.0016	0.0014	0.0017	0.0035	0.0014	0.0013	0.0022	0.0018	0.0005	0	0.0007	0.0012	0	0.0062	0	0.0017	0.0028	0.0035	0.004	0.68238	D	0.005	0.76473	D	0.999	0.77913	D	0.857	0.61067	P	.	.	.	.	1	0.81001	D	1.545	0.39105	L	1.83	0.49068	T	-3.82	0.71997	D	0.752	0.75101	-0.6427	0.63030	T	0.231	0.59682	T	9	0.037271976	0.02071	T	0.516877	0.95387	D	0.160	0.41473	.	.	0.323615622048	0.31974	0.36906211240562814	0.36820	0.915477084203	0.71221	0.557792663574	0.46955	T	0.070985	0.34095	T	-0.40467	0.02157	T	-0.351445	0.39040	T	0.0280215886968209	0.01691	T	0.90391	0.66280	D	0.19918197	0.41847	0.1862546	0.41787	0.19918197	0.41847	0.1862546	0.41786	-8.788	0.66322	D	.	.	0.194	0.41511	B	.;.	.;.	4.666995	0.74550	26.2	0.99908491774259456	0.97875	0.44706	0.27377	N	AEFDGBI	0.288410	0.40031	N	0.309649060448982	0.56643	3.829295	0.208976877989693	0.50345	3.22753	0.999999733710105	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.68	3.68	0.41359	0.676000	0.24927	1.745000	0.28430	0.577000	0.29297	0.306000	0.25378	0.921000	0.28324	0.299000	0.24476	0.0:1.0:0.0:0.0	11.692	0.50783	534	0.73357	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009615	0.000000	0.009511	0.005952	0.000000	0.008621	0.009202	0.018939	0.1053	2899.43	55	chr11	64349373	.	C	T	2899.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.802;DP=837;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=1.75;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,42:84:99:0|1:64349371_A_C:1087,0,932:64349371	15	0	4	0
chr11	64767012	64767012	T	C	exonic	SF1	.	nonsynonymous SNV	SF1:NM_001346410:exon11:c.A1129G:p.T377A,SF1:NM_001346363:exon12:c.A1465G:p.T489A,SF1:NM_001346364:exon12:c.A1465G:p.T489A,SF1:NM_201997:exon12:c.A1474G:p.T492A	.	362	1141	17	2	0	21	0.00911854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0002	0.00179712	0.0010	0.0002	0.0005	0	0	0.0002	0.0015	0.0086	0.0009314	144	154602	rs369316385	0.0009	0.0009	0.0006	0.0012	0.0098	0.0008	0.0008	0.0092	0.0090	0.0001	0.0003	5.053e-05	0	0	0.0052	0.0003	0.0011	0.0098	0.0004	0.0004	0.0004	0.0005	0.0067	0.0003	0.0003	0.0048	0.0042	9.799e-05	0	0.0003	0	0	0	0.0034	0.0003	0.0010	0.0067	1.0	0.09374	T	0.848	0.03527	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.49358	T	-0.36	0.13035	N	0.15	0.15328	-1.0814	0.07079	T	0.076	0.30522	T	8	0.00494349	0.00106	T	.	.	.	0.084	0.24469	.	.	0.350252656262	0.34631	.	.	.	.	.	.	.	0.007335	0.06752	T	-0.458176	0.01009	T	-0.424234	0.30591	T	0.00778443645729347	0.00091	T	0.286971	0.05151	T	.	.	.	.	.	.	.	.	-2.541	0.06068	T	.	.	0.059	0.00767	B	.;.	.;.	0.624193	0.09926	6.684	0.67670482053890502	0.08424	0.07055	0.13081	N	AEFBCI	0.032786	0.03768	N	-1.0587109625864	0.07417	0.3445187	-1.01898216482927	0.09368	0.465665	0.999996570829143	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.26	-2.56	0.05903	-2.517000	0.01030	-2.680000	0.03474	-0.992000	0.01845	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.235:0.3625:0.0:0.4024	4.593	0.11708	404	0.82510	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	876.33	36	chr11	64767012	.	T	C	876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.866;DP=728;ExcessHet=0;FS=4.391;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=1.01;SOR=1.248	GT:AD:DP:GQ:PL	0/1:40,39:79:99:890,0,1010	18	0	1	0
chr11	65188467	65188467	A	G	exonic	CAPN1	.	nonsynonymous SNV	CAPN1:NM_001198868:exon9:c.A983G:p.K328R,CAPN1:NM_001198869:exon9:c.A983G:p.K328R,CAPN1:NM_005186:exon9:c.A983G:p.K328R	Spastic paraplegia 76, autosomal recessive, Autosomal recessive	399	1121	2	0	0	2	0.000891266	.	.	.	1907988	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.265	0.0296442288746	.	0.000199681	0.0003	0	0.0001	0	0	0.0001	0	0.0019	0.0002393	37	154602	rs550600375	0.0001	0.0001	7.49e-05	0.0002	0.0036	0.0001	0.0001	0.0024	0.0020	0	0	0	0	0	0.0036	3.598e-06	0.0002	0.0018	6.565e-05	6.562e-05	1.285e-05	0.0001	0.0019	3.514e-05	2.614e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0.0005	0.0019	0.579	0.06011	T	0.493	0.11443	T	0.001	0.07471	B	0.008	0.13708	B	0.000006	0.62929	D	0.141985	0.994683	0.42376	D	0.9	0.23182	L	-2.29	0.87591	D	-0.64	0.18670	N	0.21	0.23506	-0.5088	0.68330	T	0.390	0.74438	T	10	0.019475102	0.00435	T	0.029644	0.52117	D	0.265	0.57870	0.423	0.46693	0.83196600744	0.83037	0.29335140239945956	0.29248	0.263449209043	0.28900	0.520062208176	0.41635	T	0.216035	0.57809	T	-0.427023	0.01545	T	-0.392949	0.34205	T	0.0258336385770609	0.01383	T	0.681532	0.29028	T	0.09917676	0.23402	0.09260392	0.21833	0.09917676	0.23402	0.09260392	0.21833	-3.119	0.11516	T	0.11772004122928525	0.10785	0.071	0.04159	B	.;.;.;.;.	.;.;.;.;.	2.567112	0.33255	19.29	0.98437843738762532	0.41475	0.78390	0.38667	D	AEFDGBI	0.229478	0.35299	N	-0.334434478790609	0.27849	1.531216	-0.13459098309302	0.34007	1.951392	0.722446755566252	0.22948	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.63	4.63	0.57175	2.092000	0.41326	3.294000	0.37329	0.756000	0.94297	0.968000	0.34134	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.300	0.54193	408	0.82256	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, 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	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1880.33	33	chr11	65188467	.	A	G	1880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=799;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.75;SOR=0.699	GT:AD:DP:GQ:PL	0/1:98,71:169:99:1894,0,2669	18	0	1	0
chr11	65620872	65620872	T	G	exonic	PCNX3	.	nonsynonymous SNV	PCNX3:NM_032223:exon10:c.T2141G:p.V714G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0441600511149	8.1e-05	.	5.186e-05	0	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs369527002	4.047e-05	4.104e-05	4.289e-05	3.801e-05	5.098e-05	3.175e-05	2.904e-05	4.026e-05	3.618e-05	0	0	0	0	0	0	5.098e-05	1.688e-05	1.222e-05	3.942e-05	3.94e-05	5.139e-05	2.69e-05	7.35e-05	1.715e-05	1.129e-05	2.847e-05	1.858e-05	2.412e-05	0	0	0	0	0	0	7.35e-05	0	0	0.115	0.28520	T	0.212	0.26549	T	0.997	0.70673	D	0.878	0.62312	P	.	.	.	.	1	0.81001	D	1.01	0.25309	L	1.51	0.30937	T	-1.99	0.45949	N	0.624	0.63883	-1.0400	0.17313	T	0.120	0.41929	T	9	0.5546903	0.64450	D	0.04416	0.61348	D	0.145	0.38592	.	.	0.784031634265	0.78203	0.7617009105931286	0.76118	.	.	0.68773072958	0.65379	T	0.035334	0.23679	T	-0.161025	0.26603	T	-0.333166	0.41115	T	0.31117707490921	0.25463	T	0.689031	0.29821	T	0.19516511	0.41295	0.1944151	0.43063	0.19516511	0.41294	0.1944151	0.43062	-2.161	0.03855	T	.	.	0.119	0.24363	B	.	.	3.603611	0.50915	23.0	0.9916468278312015	0.54212	0.93939	0.59631	D	AEFGBHCI	0.595476	0.59001	D	0.484517328468643	0.66187	4.917628	0.500712707687852	0.68037	5.165305	0.99999999989778	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	3.791000	0.55173	4.197000	0.42443	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	11.831	0.51572	275	0.89190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1016.33	35	chr11	65620872	.	T	G	1016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.246;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.024;SOR=0.765	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1030,0,941	18	0	1	0
chr11	66336090	66336090	G	A	exonic	RIN1	.	nonsynonymous SNV	RIN1:NM_001363559:exon2:c.C71T:p.P24L,RIN1:NM_001363560:exon2:c.C155T:p.P52L,RIN1:NM_004292:exon2:c.C155T:p.P52L	.	410	1105	7	0	0	7	0.00315742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	.	0.0002	0.000798722	0.0109	0	0	0	0	0.0029	0	0.0247	0.0007697	119	154602	rs371199660	0.0050	0.0047	0.0049	0.0050	0.0055	0.0049	0.0048	0.0054	0.0053	0.0007	0.0008	0.0006	2.903e-05	0.0064	0.0015	0.0055	0.0028	0.0053	0.0034	0.0034	0.0032	0.0036	0.0052	0.0032	0.0031	0.0048	0.0046	0.0007	0	0.0014	0.0006	0	0.0090	0	0.0052	0.0005	0.0033	0.111	0.29029	T	0.012	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.003226	0.35241	N	0.110360	0.999557	0.81001	D	1.64	0.41913	L	2.94	0.09728	T	0.35	0.03761	N	0.396	0.43706	-1.1432	0.01243	T	0.046	0.19879	T	9	0.0075613856	0.00172	T	.	.	.	0.183	0.45592	.	.	0.399596177874	0.39575	0.3802928041414899	0.37944	0.256483883154	0.28223	0.664591312408	0.62065	T	0.214839	0.57654	T	-0.51843	0.00449	T	-0.516236	0.20678	T	0.0472703351430132	0.05014	T	0.80082	0.44648	T	0.053354707	0.10085	0.10070237	0.24085	0.053354707	0.10084	0.10070237	0.24085	-3.717	0.19569	T	.	.	0.097	0.15877	B	.	.	3.521967	0.49371	22.8	0.99394596498635646	0.62519	0.57728	0.30453	D	AEFDGBCIJ	0.732977	0.67956	D	0.122161023152091	0.47497	2.974699	-0.0274430851574767	0.38479	2.267707	0.999999999999094	0.74766	0.455138	0.09556	0	0.48864	0.07623	0	0.606884	0.38211	0	0.581474	0.35302	0	.	.	3.34	3.34	0.37357	2.598000	0.45887	8.295000	0.76923	0.676000	0.76740	0.397000	0.26145	1.000000	0.68203	0.002000	0.04165	0.0:0.0:1.0:0.0	10.357	0.43154	63	0.97314	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001124	0.000000	0.000000	0.000000	0.000000	0.000000	0.006849	0.008929	0.02632	703.33	43	chr11	66336090	.	G	A	703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.674;DP=728;ExcessHet=0;FS=1.48;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=1.84;SOR=0.421	GT:AD:DP:GQ:PL	0/1:17,24:41:99:717,0,546	18	0	1	0
chr11	67608412	67608412	C	G	exonic	NDUFV1	.	nonsynonymous SNV	NDUFV1:NM_001166102:exon2:c.C62G:p.T21S,NDUFV1:NM_007103:exon2:c.C89G:p.T30S	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0237339634623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.21634	T	0.231	0.25438	T	0.005	0.12996	B	0.007	0.16460	B	0.000081	0.52346	D	0.167753	0.999951	0.81001	D	1.735	0.44892	L	-1.19	0.78427	T	-1.01	0.48850	N	0.342	0.40465	-0.4870	0.69115	T	0.348	0.71289	T	10	0.3319496	0.50409	T	0.023734	0.46713	T	0.249	0.55752	0.257	0.19845	0.822129434029	0.82045	0.6979377297507748	0.69734	0.238803893762	0.26431	0.763441562653	0.76443	T	0.245562	0.61488	T	-0.078465	0.39963	T	-0.350486	0.39149	T	0.744090855121613	0.42959	D	0.776122	0.40827	T	0.107709534	0.25468	0.062265858	0.12156	0.107709534	0.25468	0.062265858	0.12155	-6.651	0.51440	T	.	.	0.082	0.26576	B	.;.;.;.;.;.	.;.;.;.;.;.	3.411859	0.47334	22.4	0.98490803181232456	0.42096	0.97411	0.74579	D	AEFBI	0.809988	0.73335	D	0.0583570156422493	0.44526	2.725182	0.196330027643671	0.49646	3.165261	0.999999985050494	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.77	3.84	0.43422	5.647000	0.67597	4.850000	0.45366	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9063:0.0:0.0937	11.086	0.47306	774	0.48577	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	556.75	153	chr11	67608412	.	C	G	556.75	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-4.434;DP=2846;ExcessHet=2.0135;FS=131.701;InbreedingCoeff=-0.3119;MLEAC=8;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.15;SOR=11.518	GT:AD:DP:GQ:PL	0/1:135,34:169:99:114,0,2651	8	0	6	5
chr11	68403636	68403636	G	A	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_002335:exon8:c.G1738A:p.V580I	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	838894	not_provided|Osteogenesis_imperfecta	MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.111	0.108695101997	0.0006	.	0.0005	0	0.0010	0.0001	0	0.0007	0.0044	0	0.0004722	73	154602	rs149524398	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0003	0.0005	0.0003	2.987e-05	0.0005	0	2.519e-05	9.366e-05	0.0010	0.0004	0.0003	3.478e-05	0.0002	0.0002	0.0003	0.0002	0.0005	0.0002	0.0001	0.0003	0.0003	0	0	0	0	0	9.409e-05	0	0.0005	0.0010	0	0.596	0.05703	T	0.765	0.04555	T	0.003	0.11197	B	0.001	0.04355	B	0.012613	0.29115	U	0.146062	0.979058	0.39523	D	0	0.06538	N	-3.39	0.94210	D	-0.25	0.11008	N	0.1	0.08227	-0.4084	0.71761	T	0.531	0.82622	D	10	0.022778034	0.00578	T	0.108695	0.78534	D	0.111	0.31313	.	.	0.23524818089	0.23142	0.28402079668574165	0.28315	0.335568724543	0.35557	0.381461292505	0.22463	T	0.305705	0.67795	T	-0.328828	0.06201	T	-0.347082	0.39539	T	0.0185200283609265	0.00568	T	0.769523	0.39899	T	0.0133989	0.00058	0.018384002	0.00054	0.0133989	0.00058	0.018384002	0.00054	-4.584	0.31970	T	0.1153998260382543	0.10321	0.058	0.00717	B	.	.	1.871609	0.23776	16.15	0.93861414706665958	0.23866	0.57763	0.30462	D	AEFGBI	0.143196	0.26584	N	-0.656525064535128	0.17271	0.8872682	-0.516671123325422	0.21701	1.175163	0.945431563457651	0.27660	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.13	2.25	0.27340	0.830000	0.27115	2.545000	0.33235	-0.141000	0.12389	0.421000	0.26338	0.996000	0.32793	0.991000	0.66497	0.4556:0.0:0.5444:0.0	4.429	0.10942	645	0.63593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1204.33	40	chr11	68403636	.	G	A	1204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.167;DP=823;ExcessHet=0;FS=0.765;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-1.281;SOR=0.813	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1218,0,1299	18	0	1	0
chr11	68934473	68934473	G	A	exonic	IGHMBP2	.	nonsynonymous SNV	IGHMBP2:NM_002180:exon11:c.G1547A:p.R516H	Charcot-Marie-Tooth disease, axonal, type 2S, Autosomal recessive;Neuronopathy, distal hereditary motor, type VI, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	905296	Autosomal_recessive_distal_spinal_muscular_atrophy_1|Charcot-Marie-Tooth_disease_axonal_type_2S|Charcot-Marie-Tooth_disease	MONDO:MONDO:0011436,MedGen:C1858517,OMIM:604320,Orphanet:98920|MONDO:MONDO:0014511,MedGen:C4015349,OMIM:616155,Orphanet:443073|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.414	0.0817432760893	7.7e-05	.	1.402e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs373017768	6.865e-06	6.84e-06	5.46e-06	8.286e-06	2.531e-05	3.47e-06	2.53e-06	3.1e-06	2.24e-06	0	0	0	2.531e-05	0	0	7.21e-06	0	1.176e-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	0.105	0.29823	T	0.156	0.31833	T	0.661	0.40924	P	0.148	0.34065	B	0.552951	0.05380	N	1.253910	0.846711	0.35154	D	1.435	0.35949	L	-1.65	0.82625	D	-1.34	0.33401	N	0.205	0.22742	-0.3444	0.73716	T	0.456	0.78808	T	10	0.29682952	0.47246	T	0.081743	0.73748	D	0.414	0.72479	.	.	0.886045865566	0.88492	0.5252705230208593	0.52451	0.250979752939	0.27677	0.359289765358	0.19282	T	0.502193	0.82216	D	-0.0940954	0.37400	T	-0.188922	0.55691	T	0.252102486341575	0.22967	T	0.925907	0.72722	D	0.07013193	0.15421	0.08748643	0.20340	0.07013193	0.15421	0.08748643	0.20339	-7.162	0.55208	T	0.4980821823472286	0.57377	0.084	0.09530	B	.	.	3.967655	0.58234	24.0	0.99753099768204834	0.84460	0.64454	0.32413	D	AEFDGBHCI	0.190316	0.31755	N	0.171264349255374	0.49823	3.178494	0.224728757331598	0.51224	3.306719	0.999873527244755	0.44625	0.77792	0.99625	0	0.653731	0.59785	0	0.854111	0.99894	0	0.635551	0.53088	0	.	.	4.94	3.81	0.43020	2.939000	0.48687	6.393000	0.55562	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.053000	0.15439	0.1856:0.0:0.8144:0.0	9.643	0.39015	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	.	.	.	.	.	.	.	.	0.02632	1765.33	41	chr11	68934473	.	G	A	1765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=817;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.381;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,70:155:99:0|1:68934473_G_A:1779,0,3295:68934473	18	0	1	0
chr11	72108863	72108863	C	A	exonic	LRTOMT	.	nonsynonymous SNV	LRTOMT:NM_001145308:exon7:c.C814A:p.L272I,LRTOMT:NM_001145309:exon9:c.C814A:p.L272I,LRTOMT:NM_001145310:exon9:c.C694A:p.L232I	Deafness, autosomal recessive 63, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.0881437039204	.	.	0.0001	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs770337351	5.722e-06	7.524e-06	0	1.16e-05	0.0001	2.46e-06	1.78e-06	4.931e-05	3.626e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.077	0.42436	T	0.952	0.54136	P	0.368	0.43478	B	.	.	.	.	0.831165	0.81001	N	1.1	0.28011	L	-0.78	0.73631	T	-1.06	0.27669	N	0.505	0.53708	-0.3312	0.74098	T	0.350	0.71446	T	9	0.7555427	0.75954	D	0.088144	0.75075	D	0.339	0.66106	0.747	0.87821	0.7613135738	0.75914	0.5009740528096587	0.50019	0.393573632246	0.40530	0.652244329453	0.60304	T	0.247174	0.61676	T	-0.0839264	0.39074	T	-0.0890312	0.64235	T	0.605335891246796	0.36613	D	0.619338	0.23774	T	0.3136181	0.54097	0.39168718	0.63933	0.3136181	0.54097	0.39168718	0.63933	-5.474	0.41624	T	.	.	0.173	0.38426	B	.;.;.	.;.;.	4.178334	0.62878	24.5	0.99554890721983447	0.71397	0.95046	0.63241	D	AEFBCI	0.787678	0.71739	D	0.353892970041787	0.58946	4.07008	0.408507001173704	0.62094	4.419188	0.999991759378302	0.74766	0.372202	0.05800	0	0.573116	0.20632	0	0.514364	0.09456	0	0.491896	0.07777	0	.	.	5.5	4.58	0.56077	4.448000	0.59768	5.943000	0.51513	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.9268:0.0:0.0732	13.901	0.63306	559	0.71409	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1752.33	33	chr11	72108863	.	C	A	1752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.432;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.64;ReadPosRankSum=-1.68;SOR=0.758	GT:AD:DP:GQ:PL	0/1:32,62:94:99:1766,0,770	18	0	1	0
chr11	73309920	73309920	C	A	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.C1282A:p.L428M	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.022879188851	0.0012	0.000599042	0.0011	0.0002	0.0007	0.0001	0.0002	0.0011	0	0.0025	0.0011837	183	154602	rs141928433	0.0021	0.0021	0.0021	0.0021	0.0029	0.0020	0.0020	0.0026	0.0025	0.0002	0.0006	3.826e-05	0.0001	5.673e-05	0.0007	0.0024	0.0023	0.0029	0.0011	0.0011	0.0012	0.0010	0.0027	0.0010	0.0010	0.0018	0.0017	0.0003	0	0.0004	0.0003	0	0	0	0.0020	0.0014	0.0027	0.008	0.58626	D	0.096	0.39340	T	0.93	0.51791	P	0.459	0.46380	P	0.067114	0.21764	N	0.237424	0.999904	0.19694	N	1.5	0.37844	L	0.31	0.58613	T	-0.14	0.09135	N	0.196	0.21580	-0.9539	0.40292	T	0.122	0.42399	T	10	0.010348976	0.00231	T	0.022879	0.45806	T	0.112	0.31546	.	.	0.456980322645	0.45321	0.11194659824188508	0.11123	0.551347579142	0.51977	0.367632269859	0.20492	T	0.011581	0.10309	T	-0.455048	0.01054	T	-0.431348	0.29783	T	0.0191281497370507	0.00621	T	0.377662	0.09049	T	0.080646135	0.18489	0.09648617	0.22929	0.080646135	0.18489	0.09648617	0.22928	-6.675	0.51622	T	.	.	0.119	0.24566	B	.	.	1.533409	0.19672	14.38	0.98576240135368653	0.43180	0.37349	0.25741	N	AEFDGBCI	.	.	.	-0.0329546850206412	0.40366	2.396044	-0.0105770772782707	0.39235	2.323333	0.999990814644642	0.74766	0.542737	0.22433	0	0.405561	0.06353	1	0.619478	0.44681	0	0.638787	0.57140	0	.	.	5.13	4.0	0.45673	0.220000	0.17445	0.851000	0.22138	-0.176000	0.10722	0.000000	0.06391	0.941000	0.28781	0.965000	0.52897	0.0:0.8966:0.0:0.1034	11.373	0.48949	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	2066.33	34	chr11	73309920	.	C	A	2066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.242;DP=905;ExcessHet=0;FS=5.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.06;ReadPosRankSum=1.41;SOR=0.512	GT:AD:DP:GQ:PL	0/1:32,71:103:99:2080,0,781	18	0	1	0
chr11	78221738	78221738	A	G	exonic	GAB2	.	nonsynonymous SNV	GAB2:NM_012296:exon8:c.T1586C:p.I529T,GAB2:NM_080491:exon8:c.T1700C:p.I567T	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0105917260381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	0.07870	T	0.412	0.14456	T	0.0	0.02946	B	0.001	0.04355	B	0.000349	0.45440	U	0.145038	0.999297	0.46578	D	0.46	0.12951	N	1.73	0.26445	T	-0.53	0.16393	N	0.12	0.11054	-1.0793	0.07485	T	0.053	0.22578	T	10	0.10872084	0.20251	T	0.010592	0.27302	T	0.105	0.29889	0.133	0.03747	0.221890330934	0.21812	0.17867753340832304	0.17786	0.0634513957156	0.07066	0.448656618595	0.31760	T	0.314275	0.68596	T	-0.19863	0.21004	T	-0.523095	0.19982	T	0.506486415863037	0.32867	D	0.814119	0.46793	T	0.042224888	0.06364	0.04538544	0.06095	0.042224888	0.06364	0.04538544	0.06094	-7.006	0.54077	T	.	.	0.173	0.37876	B	.;.	.;.	2.680141	0.34960	19.77	0.33756486846783457	0.02028	0.96881	0.71447	D	AEFBI	0.599156	0.59228	D	-0.212671088589962	0.32614	1.841155	-0.0916723499472472	0.35734	2.070864	0.999954346325688	0.48110	0.732398	0.92422	0	0.688494	0.66719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.74	2.42	0.28720	6.876000	0.75358	7.020000	0.57263	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.8491:0.0:0.1509:0.0	9.073	0.35663	629	0.65079	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1085.33	34	chr11	78221738	.	A	G	1085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.505;DP=724;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.163;SOR=0.811	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1099,0,1243	18	0	1	0
chr11	96384356	96384356	C	T	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon4:c.G392A:p.S131N,CCDC82:NM_001363594:exon4:c.G392A:p.S131N,CCDC82:NM_024725:exon4:c.G392A:p.S131N,CCDC82:NM_001318736:exon5:c.G392A:p.S131N	.	488	991	37	6	0	49	0.024126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0022	0.00499201	0.0059	0	0.0034	0.0002	0.0003	0.0034	0.0133	0.0263	0.0051293	793	154602	rs143022124	0.0020	0.0020	0.0013	0.0026	0.0179	0.0019	0.0019	0.0172	0.0169	0.0003	0.0013	0.0023	2.521e-05	0.0001	0.0106	0.0009	0.0022	0.0179	0.0029	0.0029	0.0023	0.0036	0.0301	0.0027	0.0026	0.0261	0.0246	0.0004	0	0.0028	0.0023	0	9.432e-05	0.0136	0.0033	0.0024	0.0301	1.0	0.00964	T	0.501	0.11153	T	0.002	0.09854	B	0.005	0.11217	B	0.512704	0.05156	N	1.233760	1	0.08975	N	0.805	0.20218	L	1.81	0.25182	T	-0.26	0.11185	N	0.042	0.01498	-1.0088	0.27292	T	0.043	0.18701	T	10	0.0033774972	0.00059	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.03132535768265218	0.03081	0.0574924983243	0.06368	0.307645320892	0.11552	T	0.001217	0.00709	T	-0.661212	0.00062	T	-0.727489	0.04443	T	0.00389319789664587	0.00041	T	0.332367	0.08817	T	0.18073986	0.39209	0.06620944	0.13531	0.18073986	0.39209	0.06620944	0.13530	-6.996	0.55445	T	.	.	0.078	0.20896	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.559908	0.09286	6.066	0.88297889401585861	0.17867	0.06405	0.12408	N	AEFDGBHCI	0.037299	0.05108	N	-1.04098532032772	0.07766	0.3618497	-1.11817198183985	0.07352	0.3573358	0.999549943018494	0.40300	0.722319	0.85440	0	0.724815	0.89359	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	4.48	-1.45	0.08365	-0.764000	0.04841	-0.229000	0.10694	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2623:0.3623:0.1287:0.2467	0.874	0.01142	.	.	Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;.;Domain of unknown function DUF4196	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.017623	0.005051	0.005435	0.002924	0.050000	0.043103	0.024390	0.053030	0.07895	8473.79	304	chr11	96384356	.	C	T	8473.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.71;DP=1537;ExcessHet=0.3672;FS=3.29;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.628;SOR=0.948	GT:AD:DP:GQ:PL	0/1:136,107:243:99:2867,0,3473	16	0	3	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	3117.7	222	chr11	106010659	.	C	T	3117.7	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-4.746;DP=2726;ExcessHet=6.9875;FS=256.706;InbreedingCoeff=-0.5491;MLEAC=6;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=1.72;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,24:149:64:0|1:106010659_C_T:64,0,3971:106010659	7	0	5	7
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	3929.56	223	chr11	106010660	.	C	G	3929.56	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-2.836;DP=2688;ExcessHet=6.9875;FS=275.458;InbreedingCoeff=-0.5813;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=1.63;SOR=11.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,24:149:64:0|1:106010659_C_T:64,0,3971:106010659	1	0	10	8
chr11	116787938	116787938	G	A	exonic	ZPR1	.	nonsynonymous SNV	ZPR1:NM_001317086:exon1:c.C53T:p.P18L,ZPR1:NM_003904:exon1:c.C53T:p.P18L	.	366	1140	12	4	0	20	0.00869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0019	0.00239617	0.0103	0	0.0078	0	0	0.0122	0	0.0119	0.0017788	275	154602	rs201399491	0.0030	0.0030	0.0029	0.0032	0.0073	0.0030	0.0029	0.0067	0.0065	0.0005	0.0023	0.0027	0	0.0004	0.0060	0.0030	0.0028	0.0073	0.0025	0.0025	0.0027	0.0022	0.0083	0.0023	0.0022	0.0063	0.0055	0.0006	0.0011	0.0037	0.0020	0.0002	0.0002	0.0103	0.0035	0.0019	0.0083	0.084	0.32929	T	0.043	0.49942	D	0.004	0.12183	B	0.002	0.06944	B	0.111825	0.19383	N	0.541138	0.999993	0.08975	N	1.845	0.48678	L	1.0	0.41392	T	-0.31	0.12099	N	0.229	0.25745	-1.0304	0.20325	T	0.052	0.22037	T	10	0.0068852305	0.00156	T	.	.	.	0.043	0.11576	.	.	0.530011692926	0.52648	0.3534086739284269	0.35254	0.302477750187	0.32578	0.654443562031	0.60618	T	0.067876	0.33313	T	-0.468113	0.00873	T	-0.440904	0.28706	T	0.0249114520225968	0.01261	T	0.709329	0.31993	T	0.055080995	0.10657	0.03314311	0.02162	0.055080995	0.10657	0.03314311	0.02161	-6.703	0.51833	T	.	.	0.102	0.18164	B	.	.	2.894880	0.38354	20.7	0.97785345092538878	0.35963	0.13436	0.17855	N	AEFDGBHCI	0.108545	0.21589	N	-0.457693407535021	0.23480	1.261208	-0.478955744569532	0.22734	1.236284	0.99999999999993	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.249971	0.05119	0	.	.	5.64	4.73	0.59485	2.804000	0.47628	5.429000	0.48587	0.670000	0.69193	0.287000	0.25205	1.000000	0.68203	0.006000	0.07323	0.0828:0.0:0.9172:0.0	11.755	0.51140	520	0.74355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008724	0.000000	0.007042	0.003676	0.000000	0.000000	0.022876	0.008000	0.05263	1608.83	38	chr11	116787938	.	G	A	1608.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.108;DP=734;ExcessHet=0.119;FS=2.562;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.574;SOR=0.483	GT:AD:DP:GQ:PL	0/1:23,30:53:99:717,0,523	17	0	2	0
chr11	134157973	134157973	G	A	exonic	NCAPD3	.	nonsynonymous SNV	NCAPD3:NM_001372069:exon30:c.C3715T:p.P1239S,NCAPD3:NM_001372065:exon31:c.C4129T:p.P1377S,NCAPD3:NM_001372068:exon31:c.C4129T:p.P1377S,NCAPD3:NM_015261:exon31:c.C4129T:p.P1377S,NCAPD3:NM_001372070:exon33:c.C3715T:p.P1239S	.	427	1090	5	0	0	5	0.00228833	.	.	.	1165986	NCAPD3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.00716129031114	0.0027	0.00199681	0.0020	0.0005	0.0006	0	0.0059	0.0026	0.0011	0.0009	0.0019146	296	154602	rs150526752	0.0023	0.0023	0.0023	0.0023	0.0025	0.0022	0.0022	0.0024	0.0024	0.0003	0.0008	0.0010	0	0.0052	0.0014	0.0025	0.0022	0.0007	0.0018	0.0018	0.0018	0.0017	0.0028	0.0016	0.0015	0.0025	0.0023	0.0005	0	0.0010	0.0023	0	0.0034	0	0.0028	0.0014	0	0.161	0.23631	T	0.552	0.09361	T	0.017	0.17573	B	0.009	0.14300	B	0.036765	0.24482	N	0.410761	0.999999	0.08975	N	1.2	0.30300	L	1.59	0.28836	T	-1.44	0.35399	N	0.092	0.07125	-1.0563	0.12698	T	0.027	0.11663	T	10	0.0043567717	0.00088	T	0.007161	0.18979	T	0.008	0.00669	.	.	0.21279746466	0.20884	0.48379565128909413	0.48299	0.0836723866774	0.09433	0.300966322422	0.10545	T	0.01525	0.12830	T	-0.647636	0.00075	T	-0.702107	0.05712	T	0.00206275498745688	0.00021	T	0.639136	0.25234	T	0.022644952	0.00941	0.03444811	0.02514	0.022644952	0.00941	0.03444811	0.02513	-2.727	0.07532	T	.	.	0.116	0.23395	B	.	.	1.408051	0.18233	13.62	0.62699382122793701	0.07029	0.47196	0.27929	N	AEFBI	0.042458	0.06590	N	-0.717325695070817	0.15534	0.7837365	-0.632864343412186	0.18651	0.9972833	0.0978609779356964	0.16291	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.645665	0.59343	0	.	.	5.72	2.33	0.27981	1.035000	0.29824	5.677000	0.49279	0.676000	0.76740	0.174000	0.23986	1.000000	0.68203	0.169000	0.20946	0.3487:0.0:0.6512:0.0	7.862	0.28676	716	0.55970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1932.33	35	chr11	134157973	.	G	A	1932.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=798;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=0.87;SOR=0.77	GT:AD:DP:GQ:PL	0/1:84,79:163:99:1946,0,1963	18	0	1	0
chr12	865332	865332	C	T	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_213655:exon9:c.C2362T:p.R788C	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	2	1518	2	0	0	2	0.000658328	.	.	.	413333	Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|not_provided|Pseudohypoaldosteronism_type_2C|Inborn_genetic_diseases|WNK1-related_disorder	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MedGen:C3661900|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.166	0.0137091309083	.	0.000798722	0.0013	0.0019	0	0	0	0.0017	0	0.0012	0.0005045	78	154602	rs72649848	0.0029	0.0028	0.0030	0.0029	0.0035	0.0029	0.0028	0.0034	0.0033	0.0003	0.0014	0.0015	2.798e-05	0.0004	0.0007	0.0035	0.0020	0.0013	0.0017	0.0017	0.0018	0.0016	0.0029	0.0015	0.0015	0.0025	0.0024	0.0007	0	0.0008	0.0012	0	0.0003	0	0.0029	0.0028	0.0025	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	0.997043	0.81001	D	.	.	.	.	.	.	.	.	.	0.813	0.80866	-0.5360	0.67315	T	0.291	0.66230	T	6	0.055325776	0.06028	T	0.013709	0.33318	T	.	.	.	.	0.179529687257	0.17594	0.016326332534181844	0.01588	.	.	.	.	.	.	.	.	-0.212637	0.19010	T	-0.0800049	0.64903	T	0.0785122453303268	0.09796	T	0.618638	0.23716	T	.	.	.	.	.	.	.	.	-5.048	0.37357	T	.	.	0.633	0.70235	P	.	.	2.425107	0.31191	18.67	0.99942961075804371	0.99848	0.94629	0.61792	D	AEFGBI	0.627424	0.60989	D	0.41551341256545	0.62275	4.440698	0.494887005216862	0.67649	5.112584	0.999509648417427	0.40062	0.372202	0.05800	0	0.546412	0.12157	0	0.514364	0.09456	0	0.491896	0.07777	0	.	.	5.4	5.4	0.77957	4.634000	0.61023	2.741000	0.34462	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.522	0.95183	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1642.33	41	chr12	865332	.	C	T	1642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.721;DP=856;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.449;SOR=0.536	GT:AD:DP:GQ:PL	0/1:70,65:135:99:1656,0,1777	18	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.3684	3193.35	94	chr12	4591261	.	G	C	3193.35	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.805;DP=1547;ExcessHet=17.0548;FS=274.024;InbreedingCoeff=-0.5842;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=2.94;ReadPosRankSum=1.24;SOR=12.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,28:75:99:.:.:391,0,934:.	5	0	14	0
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P,DYRK4:NM_001371301:exon5:c.T427C:p.S143P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	163.93	42	chr12	4591262	.	T	C	163.93	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-3.113;DP=1141;ExcessHet=0.3672;FS=123.102;InbreedingCoeff=-0.1016;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.694;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,18:75:45:.:.:45,0,1634:.	15	0	3	1
chr12	10407787	10407787	G	A	exonic	KLRC4	.	nonsynonymous SNV	KLRC4:NM_013431:exon4:c.C343T:p.R115C	.	448	1073	1	0	0	1	0.000465766	.	.	.	3983875	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.00177955908164	.	.	8.28e-06	0	0	0	0	0	0	6.176e-05	6.5e-06	1	154602	rs752700630	4.839e-06	6.156e-06	1.375e-06	8.345e-06	6.13e-05	2.01e-06	1.29e-06	1.015e-05	3.8e-06	6.13e-05	4.865e-05	0	0	0	0	9.034e-07	0	2.427e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.237	0.24621	T	0.024	0.19075	B	0.02	0.19048	B	0.178824	0.03167	N	1.668120	1	0.08975	N	0.205	0.09354	N	3.53	0.04852	T	0.66	0.02297	N	0.052	0.02366	-0.9627	0.38664	T	0.011	0.03996	T	10	0.05484	0.05902	T	0.00178	0.03037	T	0.034	0.08419	0.457	0.52265	0.178374595973	0.17440	0.12935475570143548	0.12860	0.320369429147	0.34245	0.266242444515	0.05657	T	0.00592	0.05364	T	-0.430725	0.01467	T	-0.619814	0.11199	T	0.0148473336578225	0.00313	T	0.144386	0.01177	T	0.043136872	0.06669	0.029037794	0.01198	0.043136872	0.06669	0.029037794	0.01198	-1.637	0.02070	T	.	.	0.089	0.12371	B	.	.	-0.092278	0.03686	0.748	0.48528971656360453	0.04057	0.00126	0.00785	N	AEFBI	0.036798	0.04959	N	-1.67927741164254	0.00918	0.03974227	-1.75573531811432	0.00912	0.04078871	5.90053676195863E-4	0.07390	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.89	-4.8	0.02957	-1.449000	0.02498	-8.620000	0.00940	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1999:0.1452:0.512:0.1429	4.191	0.09882	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	486.94	33	chr12	10407787	.	G	A	486.94	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.302;DP=1788;ExcessHet=0.7564;FS=121.428;InbreedingCoeff=-0.1345;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.177;SOR=10.853	GT:AD:DP:GQ:PL	0/1:128,42:170:59:59,0,1958	14	0	4	1
chr12	10433940	10433940	G	A	exonic	KLRC2	.	nonsynonymous SNV	KLRC2:NM_002260:exon4:c.C334T:p.R112C	.	496	1025	1	0	0	1	0.000487567	.	.	.	2778510	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00115915523723	0.0002	0.000199681	4.384e-05	0.0001	0	0.0001	0	4.738e-05	0	0	0.0001153	3	26028	rs373440622	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	3.252e-05	4.635e-05	0	0	0	0	0.0002	8.676e-05	1.199e-05	0.0001	0.0001	0.0001	0.0001	0.0003	8.736e-05	7.196e-05	0.0002	0.0001	0	0	0	0	0.0002	0	0	0.0003	0	0	0.216	0.19782	T	0.222	0.72224	T	.	.	.	.	.	.	0.087030	0.02415	N	1.882220	1	0.08975	N	.	.	.	3.53	0.17271	T	0.74	0.02038	N	0.205	0.23758	-1.0215	0.23227	T	0.017	0.06902	T	9	0.040109694	0.02824	T	0.001159	0.01459	T	0.011	0.01250	.	.	0.124217242631	0.12060	0.22205922519808463	0.22120	0.42459538528	0.42886	.	.	.	.	.	.	-0.60291	0.00140	T	-0.839387	0.01108	T	0.0157935500101135	0.00368	T	0.466753	0.13720	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.32517	B	.;.;.;.	.;.;.;.	0.381771	0.07536	4.186	0.38001407287067851	0.02537	0.00085	0.00571	N	AEFBI	0.017922	0.00505	N	-1.52105792783596	0.01711	0.07490815	-1.57660220412722	0.01799	0.08190094	1.04486277970265E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.98	-3.11	0.04975	-1.167000	0.03236	-20.000000	0.00162	-0.280000	0.06433	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5319:0.2044:0.2637:0.0	3.415	0.06945	872	0.31118	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1176	459.05	33	chr12	10433940	.	G	A	459.05	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-3.195;DP=1912;ExcessHet=0.7564;FS=143.191;InbreedingCoeff=-0.1382;MLEAC=3;MLEAF=0.088;MQ=54.1;MQRankSum=-0.3;QD=0.54;ReadPosRankSum=0.701;SOR=10.787	GT:AD:DP:GQ:PL	0/1:103,37:140:70:70,0,1628	13	0	4	2
chr12	14676909	14676909	G	A	exonic	GUCY2C	.	nonsynonymous SNV	GUCY2C:NM_004963:exon7:c.C893T:p.T298M	Diarrhea 6, Autosomal dominant;Meconium ileus, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	725024	Meconium_ileus|not_provided	Human_Phenotype_Ontology:HP:0002610,Human_Phenotype_Ontology:HP:0004401,Human_Phenotype_Ontology:HP:0004402,MONDO:MONDO:0054868,MedGen:C2939175,Orphanet:314376|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.718	0.08113235626	0.0007	0.00139776	0.0011	0.0002	0.0028	0.0015	0.0002	0.0012	0.0022	0.0004	0.0010931	169	154602	rs148946391	0.0006	0.0007	0.0007	0.0006	0.0021	0.0006	0.0006	0.0017	0.0016	0.0003	0.0021	0.0013	0.0009	5.792e-05	0.0018	0.0006	0.0010	0.0003	0.0008	0.0008	0.0009	0.0008	0.0025	0.0007	0.0007	0.0017	0.0015	0.0002	0	0.0024	0.0020	0.0025	9.45e-05	0	0.0009	0.0005	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999952	0.52396	D	2.14	0.59869	M	-1.94	0.84919	D	-4.63	0.79229	D	0.614	0.63035	0.590	0.91768	D	0.744	0.91263	D	10	0.11198273	0.20989	T	0.081132	0.73614	D	0.718	0.90011	.	.	0.945319187657	0.94474	0.7441699155061655	0.74362	0.756695706595	0.64042	0.521012067795	0.41769	T	0.720686	0.92104	D	-0.0969812	0.36924	T	0.0845521	0.75883	D	0.0737340945947757	0.09165	T	0.922308	0.71764	D	0.41671002	0.61872	0.4470825	0.67800	0.41671002	0.61873	0.4470825	0.67800	-8.595	0.65056	D	0.7399699083213038	0.82200	0.450	0.62182	A	.	.	4.738716	0.76397	26.5	0.99898897898823857	0.97124	0.91974	0.54667	D	AEFBI	0.590051	0.58669	D	0.760506781171412	0.83588	8.056779	0.724995651642369	0.84276	8.247316	0.140738862029311	0.17268	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.77	5.77	0.91077	5.014000	0.63790	11.543000	0.93142	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.456000	0.28029	0.0:0.0:1.0:0.0	15.559	0.75963	733	0.53988	.	.	.	.	.	.	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	0.001008	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.007576	0.02632	398.33	30	chr12	14676909	.	G	A	398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.896;DP=586;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.791;SOR=0.567	GT:AD:DP:GQ:PL	0/1:12,16:28:99:412,0,254	18	0	1	0
chr12	29495332	29495332	A	G	exonic	OVCH1	.	nonsynonymous SNV	OVCH1:NM_001353179:exon4:c.T407C:p.M136T	.	434	1071	15	2	0	19	0.00879223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.0133570225336	0.0011	0.000599042	0.0007	0	0.0007	0	0	0.0012	0	0.0002	0.0006727	104	154602	rs145585474	0.0006	0.0006	0.0006	0.0006	0.0099	0.0005	0.0005	0.0078	0.0071	0.0005	0.0008	0.0081	0	3.749e-05	0.0099	0.0004	0.0014	0.0002	0.0008	0.0008	0.0007	0.0010	0.0016	0.0007	0.0007	0.0011	0.0010	9.618e-05	0.0230	0.0016	0.0089	0	0	0.0068	0.0006	0.0009	0	0.003	0.68238	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	-2.3	0.87671	D	-4.1	0.74900	D	0.387	0.42834	-0.6214	0.63931	T	0.354	0.71728	T	9	0.007379234	0.00168	T	0.013357	0.32703	T	0.337	0.65913	.	.	0.771612649732	0.76951	0.19048937656957088	0.18966	0.198141154326	0.22192	0.420207709074	0.27865	T	.	.	.	-0.259407	0.12969	T	-0.201745	0.54480	T	0.0664368857320869	0.08141	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.42749	B	.	.	1.185806	0.15766	12.09	0.97573721156912263	0.34692	0.19815	0.20806	N	AEFI	0.033367	0.03942	N	-0.482265707306602	0.22662	1.211648	-0.585589920534754	0.19869	1.06795	0.00284753427874371	0.09746	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	-1.27	0.08863	0.205000	0.17154	0.347000	0.17439	0.731000	0.85647	0.846000	0.30379	0.025000	0.21018	0.747000	0.35681	0.4511:0.3697:0.0:0.1792	4.884	0.13051	752	0.51611	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012085	0.005051	0.013587	0.035088	0.000000	0.008621	0.003049	0.000000	0.02632	1931.33	35	chr12	29495332	.	A	G	1931.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.323;DP=830;ExcessHet=0;FS=2.483;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=-0.962;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,52:111:99:0|1:29495332_A_G:1945,0,2285:29495332	18	0	1	0
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S,DDX11:NM_001257145:exon10:c.C1024T:p.P342S,DDX11:NM_004399:exon10:c.C1102T:p.P368S,DDX11:NM_030653:exon10:c.C1102T:p.P368S,DDX11:NM_152438:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	627.64	176	chr12	31091731	.	C	T	627.64	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.086;DP=1857;ExcessHet=2.0135;FS=0.796;InbreedingCoeff=-0.1813;MLEAC=6;MLEAF=0.158;MQ=48.18;MQRankSum=-5.69;QD=0.75;ReadPosRankSum=-2.434;SOR=0.58	GT:AD:DP:GQ:PL	0/1:118,25:143:99:235,0,3275	13	0	6	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3192.41	61	chr12	39764776	.	G	C	3192.41	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.323;DP=1223;ExcessHet=28.6262;FS=348.508;InbreedingCoeff=-0.7653;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=0.863;SOR=12.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,14:49:22:.:.:22,0,565:.	2	0	16	1
chr12	40479632	40479632	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0348804618589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4e-06	4.104e-06	2.23e-06	2.599e-06	0.0001	4e-07	1.5e-07	2.107e-05	8.5e-06	0	0	0	0	0	0	0	0	0.0001	6.605e-06	6.579e-06	1.29e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	10149.3	571	chr12	40479632	.	T	C	10149.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.39;DP=7909;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-0.378;SOR=0.696	GT:AD:DP:GQ:PL	0/1:307,357:664:99:10163,0,8281	18	0	1	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	55498.9	1319	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	55498.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=11;MLEAF=0.289;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1030,0:1030:99:.:.:3226,0,42656:.	8	0	11	0
chr12	40512213	40512213	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	547	961	11	3	0	17	0.00876741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796294409	1.2e-06	0.0004	0	2.598e-06	1.313e-06	0	0	.	.	0	0	0	0	0	0	1.313e-06	0	0	1.744e-05	0.0089	1.712e-05	1.777e-05	0.0003	2.9e-06	1.08e-06	.	.	0	0	8.983e-05	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	91.37	169	chr12	40512213	.	C	T	91.37	.	AC=2;AF=0.083;AN=24;BaseQRankSum=4.53;DP=2058;ExcessHet=0.119;FS=1.905;InbreedingCoeff=-0.1692;MLEAC=3;MLEAF=0.125;MQ=59.56;MQRankSum=-11.42;QD=0.33;ReadPosRankSum=-0.121;SOR=0.989	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,11:146:53:0|1:40512182_A_G:53,0,5554:40512182	10	0	2	7
chr12	48149772	48149772	G	A	exonic	ASB8	.	nonsynonymous SNV	ASB8:NM_001319297:exon4:c.C461T:p.P154L,ASB8:NM_024095:exon4:c.C461T:p.P154L,ASB8:NM_001319296:exon5:c.C461T:p.P154L,ASB8:NM_001319298:exon5:c.C278T:p.P93L,ASB8:NM_001319299:exon5:c.C278T:p.P93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.182134530313	.	.	3.295e-05	0	0	0	0.0002	2.997e-05	0	6.056e-05	2.59e-05	4	154602	rs747952969	1.642e-05	1.71e-05	1.634e-05	1.65e-05	3.478e-05	1.111e-05	9.33e-06	9.24e-06	5.03e-06	0	0	0	0	9.36e-05	0	1.169e-05	4.967e-05	3.478e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.42e-05	0	2.94e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	-0.49	0.70365	T	-8.95	0.97995	D	0.915	0.91736	0.283	0.87288	D	0.593	0.85473	D	10	0.96019	0.95419	D	0.182135	0.85601	D	0.743	0.91112	0.888	0.97226	0.883423673164	0.88228	0.8838265066689126	0.88350	1.30551478691	0.83116	0.861331403255	0.91308	D	0.248156	0.61791	T	0.311055	0.83823	D	0.305887	0.88467	D	0.940361678600311	0.61264	D	0.966803	0.87909	D	0.8694105	0.88814	0.76326656	0.86014	0.8694105	0.88816	0.76326656	0.86015	-9.649	0.71784	D	.	.	0.973	0.90412	P	.;.	.;.	5.900187	0.93996	33	0.99891307217815595	0.96513	0.99220	0.93002	D	AEFGBI	0.892830	0.83016	D	0.873684894926556	0.90412	10.39238	0.804113756382187	0.90076	10.24655	0.999999999794913	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	9.262000	0.94771	11.889000	0.99041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.394	0.90436	650	0.62973	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2788.33	34	chr12	48149772	.	G	A	2788.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=906;ExcessHet=0;FS=2.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.859;SOR=0.589	GT:AD:DP:GQ:PL	0/1:124,110:234:99:2802,0,3161	18	0	1	0
chr12	49042788	49042788	G	A	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon27:c.C5735T:p.P1912L	Kabuki syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1536500	Kabuki_syndrome_1|Choanal_atresia-athelia-hypothyroidism-delayed_puberty-short_stature_syndrome|Kabuki_syndrome	MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322|MONDO:MONDO:0035651,MedGen:C5680310,OMIM:620186,Orphanet:589856|MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.610	0.345858416333	.	.	1.657e-05	0	0	0	0	1.5e-05	0	6.061e-05	3.84e-05	1	26028	rs749783824	6.842e-06	6.84e-06	4.084e-06	9.627e-06	0.0002	3.46e-06	2.52e-06	3.85e-06	1.44e-06	0	2.237e-05	0	0	0	0.0002	4.497e-06	1.656e-05	2.319e-05	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.104	0.29959	T	.	.	.	0.997	0.70673	D	0.84	0.60170	P	0.002630	0.36208	N	0.000000	0.999999	0.58761	D	2.285	0.65182	M	-1.77	0.83660	D	-6.06	0.89833	D	0.638	0.65074	0.302	0.87595	D	0.616	0.86422	D	10	0.7995937	0.79381	D	0.345858	0.92139	D	0.610	0.84719	0.241	0.17371	0.625204814301	0.62215	0.22670270785083646	0.22585	1.35917458344	0.84270	0.58642333746	0.50990	T	0.25923	0.63048	T	0.152648	0.69516	D	0.0783455	0.75467	D	0.954312145709991	0.64235	D	0.848915	0.53103	T	0.14616565	0.33473	0.25241804	0.50871	0.14616565	0.33473	0.25241804	0.50870	-4.447	0.30189	T	.	.	0.093	0.13923	B	.	.	3.521357	0.49360	22.8	0.95947738964115592	0.28261	0.98974	0.89400	D	AEFDBI	0.640133	0.61793	D	0.696157169304159	0.79380	7.065573	0.701051458426681	0.82458	7.772097	0.999990181405258	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	5.439000	0.66307	11.828000	0.97436	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.148:0.852:0.0	14.473	0.67107	380	0.83728	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2708.33	69	chr12	49042788	.	G	A	2708.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.594;DP=1127;ExcessHet=0;FS=4.811;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-1.224;SOR=1.043	GT:AD:DP:GQ:PL	0/1:105,105:210:99:2722,0,2733	18	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N,SCN8A:NM_001330260:exon11:c.G1581C:p.K527N,SCN8A:NM_001369788:exon11:c.G1581C:p.K527N,SCN8A:NM_014191:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	1136.65	43	chr12	51706661	.	G	C	1136.65	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.366;DP=1341;ExcessHet=6.9875;FS=163.767;InbreedingCoeff=-0.4405;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=1.93;SOR=11.652	GT:AD:DP:GQ:PL	0/1:46,21:71:99:141,0,881	7	0	10	2
chr12	52447563	52447563	C	T	exonic	KRT6B	.	nonsynonymous SNV	KRT6B:NM_005555:exon8:c.G1435A:p.E479K	Pachyonychia congenita 4	0	1514	7	1	0	9	0.00296345	.	.	.	3695578	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.450	0.185703409743	7.7e-05	0.000599042	0.0002	9.61e-05	8.64e-05	0	0	0.0001	0	0.0012	0.0002135	33	154602	rs369418982	0.0001	0.0001	7.76e-05	0.0001	0.0010	8.714e-05	8.201e-05	0.0008	0.0007	0	2.236e-05	0	0	0	0.0003	4.857e-05	9.937e-05	0.0010	9.192e-05	9.187e-05	5.139e-05	0.0001	0.0006	5.524e-05	4.362e-05	0.0002	8.985e-05	9.624e-05	0	0	0	0	0	0	0.0001	0	0.0006	0.001	0.78490	D	0.007	0.69154	D	1.0	0.90584	D	0.93	0.66466	D	0.000026	0.55875	D	0.000000	0.941888	0.37351	D	3.005	0.85968	M	-2.08	0.86010	D	-3.52	0.68412	D	0.514	0.54496	0.755	0.93852	D	0.782	0.92596	D	10	0.20932615	0.37291	T	0.185703	0.85829	D	0.450	0.75074	.	.	0.903155408053	0.90219	0.675983533478335	0.67536	0.745361022122	0.63493	0.536536812782	0.43956	T	0.569455	0.85720	D	-0.28275	0.10378	T	-0.219461	0.52789	T	0.483605802059174	0.32030	T	0.937806	0.76632	D	0.63158965	0.74383	0.49033168	0.70514	0.63158965	0.74384	0.49033168	0.70514	-13.485	0.91262	D	0.4216863224824031	0.51037	0.568	0.67539	P	.	.	5.305474	0.89070	29.8	0.99842449566650093	0.92316	0.93462	0.58282	D	AEFDGBI	0.228111	0.35182	N	0.496664075569349	0.66893	5.009724	0.324151767791112	0.56962	3.860557	0.999541846930859	0.40300	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.93	2.93	0.33092	3.346000	0.51907	.	.	0.429000	0.20894	0.994000	0.38300	0.994000	0.32194	0.546000	0.30079	0.0:0.896:0.0:0.104	10.031	0.41274	607	0.67291	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	6490.33	38	chr12	52447563	.	C	T	6490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.74;DP=1918;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.087;SOR=0.739	GT:AD:DP:GQ:PL	0/1:266,243:509:99:6504,0,6615	18	0	1	0
chr12	52844092	52844092	C	T	splicing	KRT78	NM_001300814:exon6:c.717+1G>A;NM_173352:exon6:c.1047+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369967	0.88040	D	0.293656	0.87888	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.765200	0.77079	26.6	0.99516411059901411	0.68979	0.95684	0.65718	D	AEFDBHI	.	.	.	0.963108066162634	0.94491	12.800	0.76755498687648	0.87461	9.230449	0.98872987557459	0.31608	0.077785	0.01820	0	0.071152	0.01849	0	0.063197	0.01477	0	0.088932	0.02473	0	0.973165	0.75581	4.35	4.35	0.51454	3.075000	0.49771	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.114000	0.18915	0.0:1.0:0.0:0.0	14.508	0.67348	579	0.69780	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1025.33	33	chr12	52844092	.	C	T	1025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.056;DP=688;ExcessHet=0;FS=4.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.083;SOR=0.342	GT:AD:DP:GQ:PL	0/1:37,39:76:99:1039,0,986	18	0	1	0
chr12	53269644	53269644	-	GAGAGA	exonic	ESPL1	.	nonframeshift insertion	ESPL1:NM_012291:exon3:c.702_703insGAGAGA:p.R236_G237insER	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2983.29	35	chr12	53269644	.	T	TGAGAGA	2983.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.499;DP=848;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.78;ReadPosRankSum=1.76;SOR=0.713	GT:AD:DP:GQ:PL	0/1:61,76:137:99:2997,0,2327	18	0	1	0
chr12	55469526	55469526	G	A	exonic	OR6C70	.	nonsynonymous SNV	OR6C70:NM_001005499:exon1:c.C613T:p.L205F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0034652601323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.12	0.35970	T	0.986	0.61523	D	0.928	0.66279	D	0.161515	0.17649	N	0.469317	1	0.08975	N	1.83	0.48079	L	1.52	0.30669	T	-3.56	0.68880	D	0.03	0.00717	-1.0442	0.16059	T	0.114	0.40559	T	10	0.18694893	0.34183	T	0.003465	0.07817	T	0.071	0.20720	0.494	0.58206	0.107399877778	0.10242	0.06369275577210844	0.06308	0.0386921261483	0.04117	0.190446466208	0.00233	T	0.020844	0.16335	T	-0.347516	0.04884	T	-0.736959	0.04019	T	0.388156596604186	0.28495	T	0.79692	0.44048	T	0.19156212	0.40788	0.24477826	0.49952	0.19156212	0.40788	0.24477826	0.49951	-8.38	0.63632	D	.	.	0.116	0.23290	B	.	.	1.776472	0.22588	15.68	0.99303967684641548	0.58722	0.01354	0.04641	N	AEFI	0.035995	0.04725	N	-0.337526787687154	0.27733	1.523984	-0.575010748575177	0.20145	1.084066	1.28502387716234E-4	0.05386	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.13	2.11	0.26299	-1.804000	0.01834	.	.	0.637000	0.52028	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2706:0.0:0.5126:0.2168	3.669	0.07802	771	0.49057	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	.	.	.	.	.	.	.	.	0.02632	2619.33	209	chr12	55469526	.	G	A	2619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.533;DP=1983;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.274;SOR=0.699	GT:AD:DP:GQ:PL	0/1:105,99:204:99:2633,0,3036	18	0	1	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	296.73	32	chr12	56716773	.	G	C	296.73	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.781;DP=1467;ExcessHet=2.9153;FS=130.34;InbreedingCoeff=-0.2316;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.525;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,16:107:3:.:.:3,0,2077:.	11	0	7	1
chr12	57029508	57029508	A	G	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon26:c.T2804C:p.I935T,MYO1A:NM_001256041:exon27:c.T2804C:p.I935T	.	0	1509	13	0	0	13	0.00428901	.	.	.	175734	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.283	0.0581229933038	.	.	0.0002	0	0.0003	0	0	0.0002	0	0.0003	0.0002005	31	154602	rs372760228	0.0002	0.0002	0.0002	0.0002	0.0040	0.0002	0.0002	0.0027	0.0023	8.961e-05	0.0004	0.0003	0	0	0.0040	0.0002	0.0003	0.0004	0.0001	0.0001	0.0001	0.0001	0.0002	8.661e-05	7.253e-05	0.0001	8.879e-05	4.813e-05	0	0.0001	0	0.0002	0	0	0.0002	0.0005	0.0002	0.004	0.65419	D	0.01	0.65728	D	0.908	0.50127	P	0.777	0.57175	P	0.000145	0.49130	D	0.138062	0.960778	0.38199	D	2.605	0.76211	M	0.92	0.44461	T	-3.05	0.62976	D	0.57	0.59308	-0.7106	0.59923	T	0.183	0.53103	T	10	0.6668149	0.70476	D	0.058123	0.67208	D	0.283	0.60100	.	.	0.561790411231	0.55840	0.518030966264188	0.51726	0.342622770911	0.36193	0.491415500641	0.37634	T	0.284756	0.65754	T	-0.280409	0.10625	T	-0.324408	0.42091	T	0.469494581222534	0.31512	T	0.727427	0.34191	T	0.25352505	0.48375	0.24457297	0.49927	0.25352505	0.48375	0.24457297	0.49926	-3.998	0.23774	T	.	.	0.125	0.26263	B	.;.	.;.	4.154940	0.62356	24.4	0.99810520047076734	0.89442	0.96452	0.69209	D	AEFBI	0.769809	0.70495	D	0.472483038929714	0.65490	4.828994	0.420568924088148	0.62847	4.507347	0.999764552193674	0.42728	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.48	4.48	0.53973	6.762000	0.74744	9.413000	0.80714	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.456000	0.28029	1.0:0.0:0.0:0.0	10.108	0.41721	174	0.93268	Class I myosin tail homology domain|Class I myosin tail homology domain;Class I myosin tail homology domain|Class I myosin tail homology 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	0.005035	0.005051	0.004076	0.000000	0.100000	0.000000	0.006098	0.007576	0.02632	1275.33	35	chr12	57029508	.	A	G	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.233;DP=774;ExcessHet=0;FS=0.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.946;SOR=0.802	GT:AD:DP:GQ:PL	0/1:58,57:115:99:1289,0,1483	18	0	1	0
chr12	57030288	57030288	G	A	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon24:c.C2513T:p.P838L,MYO1A:NM_001256041:exon25:c.C2513T:p.P838L	.	0	1521	1	0	0	1	0.000328623	.	.	.	433747	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.155	0.0777437630313	.	.	0.0002	0	0.0008	0	0	0.0002	0	0	0.0001682	26	154602	rs765830662	7.593e-05	7.593e-05	8.576e-05	6.6e-05	0.0007	6.423e-05	6.004e-05	0.0005	0.0005	5.974e-05	0.0007	0	0.0001	0	0.0002	4.407e-05	0.0003	2.319e-05	4.601e-05	4.597e-05	1.285e-05	8.072e-05	0.0001	2.11e-05	1.527e-05	2.261e-05	9.07e-06	2.416e-05	0	0.0001	0	0	0	0	4.409e-05	0.0005	0	0.212	0.19500	T	0.103	0.38305	T	0.026	0.19406	B	0.004	0.10090	B	0.002586	0.36278	N	0.263944	0.999975	0.54805	D	1.3	0.32576	L	-2.21	0.86963	D	-4.54	0.78472	D	0.159	0.19459	-0.4095	0.71726	T	0.469	0.79530	T	10	0.06882611	0.09789	T	0.077744	0.72842	D	0.155	0.40530	0.363	0.36874	0.822984831872	0.82131	0.335801029263641	0.33493	0.0833804111883	0.09400	0.360196232796	0.19414	T	0.417566	0.77018	T	-0.305173	0.08180	T	-0.322103	0.42343	T	0.0426469313967766	0.04172	T	0.60284	0.22604	T	0.07042626	0.15511	0.11576528	0.27946	0.07042626	0.15511	0.11576528	0.27945	-6.117	0.47248	T	.	.	0.075	0.05711	B	.;.	.;.	2.447148	0.31507	18.76	0.86151519901846496	0.16347	0.71733	0.35141	D	AEFDBI	0.122793	0.23810	N	-0.490626338018724	0.22388	1.195054	-0.388291301462599	0.25345	1.393247	0.685433099641052	0.22527	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.94	3.12	0.34986	2.537000	0.45360	2.555000	0.33284	-0.130000	0.13190	0.992000	0.37556	0.998000	0.33993	0.315000	0.24854	0.1934:0.0:0.8066:0.0	7.947	0.29157	174	0.93268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2075.33	35	chr12	57030288	.	G	A	2075.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=860;ExcessHet=0;FS=0.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.691;SOR=0.766	GT:AD:DP:GQ:PL	0/1:114,83:197:99:2089,0,2790	18	0	1	0
chr12	70569879	70569879	C	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001206971:exon11:c.G2506T:p.V836L,PTPRB:NM_001206972:exon12:c.G2776T:p.V926L,PTPRB:NM_002837:exon12:c.G2776T:p.V926L,PTPRB:NM_001330204:exon13:c.G3166T:p.V1056L,PTPRB:NM_001109754:exon14:c.G3430T:p.V1144L	.	418	1089	15	0	0	15	0.00683995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	.	0.0002	0.00319489	0.0017	0.0001	8.755e-05	0	0	0.0002	0.0011	0.0113	0.0015136	234	154602	rs201160280	0.0009	0.0009	0.0006	0.0012	0.0114	0.0008	0.0008	0.0108	0.0105	5.977e-05	0	0.0027	0	0	0.0010	0.0002	0.0010	0.0114	0.0005	0.0005	0.0003	0.0007	0.0093	0.0004	0.0004	0.0072	0.0064	0.0001	0	0	0.0049	0.0002	0	0	0.0001	0.0009	0.0093	0.027	0.53900	D	0.006	0.92824	D	0.998	0.77913	D	0.971	0.73562	D	0.000002	0.62929	D	0.058217	1	0.81001	D	2.895	0.83812	M	3.69	0.04114	T	-1.53	0.41428	N	0.733	0.75650	-1.0834	0.06702	T	0.047	0.20235	T	10	0.008271724	0.00188	T	.	.	.	0.234	0.53644	0.426	0.47185	0.442492808307	0.43871	0.5002483743775802	0.49945	0.498353759159	0.48309	0.573220491409	0.49132	T	0.067886	0.44146	T	-0.267928	0.11989	T	-0.148242	0.59399	T	0.111708208111	0.13599	T	0.908809	0.81406	D	0.27998886	0.51048	0.22616558	0.47586	0.27998886	0.51047	0.22616558	0.47585	-8.246	0.64621	D	.	.	0.286	0.59733	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.884855	0.56491	23.7	0.99762952167761254	0.85254	0.98190	0.80386	D	AEFDBI	0.786975	0.71690	D	0.527429464316778	0.68717	5.25585	0.501910177935566	0.68121	5.17629	0.999999985249669	0.74766	0.67177	0.52595	0	0.588015	0.36545	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	5.3	5.3	0.74745	5.574000	0.67124	3.985000	0.40938	0.589000	0.31548	1.000000	0.71638	0.999000	0.35428	0.158000	0.20581	0.0:1.0:0.0:0.0	19.318	0.94212	729	0.54495	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.007576	0.05263	4904.83	33	chr12	70569879	.	C	A	4904.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.212;DP=1150;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=2.73;SOR=0.709	GT:AD:DP:GQ:PL	0/1:179,115:294:99:2738,0,4654	17	0	2	0
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F,PTPRB:NM_001330204:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	247.04	57	chr12	70635944	.	G	A	247.04	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.741;DP=1270;ExcessHet=1.3;FS=174.484;InbreedingCoeff=-0.3061;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=1.39;SOR=10.364	GT:AD:DP:GQ:PL	0/1:54,23:84:70:70,0,934	7	0	5	7
chr12	81339315	81339315	C	G	exonic	PPFIA2	.	nonsynonymous SNV	PPFIA2:NM_001220479:exon11:c.G1114C:p.E372Q,PPFIA2:NM_001220480:exon12:c.G64C:p.E22Q,PPFIA2:NM_001220478:exon17:c.G2116C:p.E706Q,PPFIA2:NM_001220477:exon18:c.G2191C:p.E731Q,PPFIA2:NM_001282536:exon18:c.G1954C:p.E652Q,PPFIA2:NM_001220474:exon19:c.G2359C:p.E787Q,PPFIA2:NM_001220473:exon20:c.G2413C:p.E805Q,PPFIA2:NM_001220475:exon20:c.G2413C:p.E805Q,PPFIA2:NM_001220476:exon20:c.G2413C:p.E805Q,PPFIA2:NM_003625:exon21:c.G2413C:p.E805Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0101776941763	.	0.000199681	3.397e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs575692311	2.012e-05	2.121e-05	1.242e-05	2.79e-05	0.0003	1.412e-05	1.221e-05	0.0002	0.0002	0	0	0	0	0	0	0	3.365e-05	0.0003	1.315e-05	1.313e-05	1.287e-05	1.345e-05	0.0004	2.19e-06	8.2e-07	7.307e-05	3.035e-05	0	0	0	0	0	0	0	0	0	0.0004	0.092	0.31682	T	0.442	0.22016	T	0.993	0.65571	D	0.968	0.71741	D	0.000001	0.84330	D	0.054229	1	0.81001	D	1.11	0.28643	L	1.46	0.32238	T	-0.65	0.25332	N	0.354	0.51672	-1.0169	0.24722	T	0.162	0.49814	T	10	0.17035735	0.31695	T	0.010178	0.26412	T	0.174	0.44019	0.145	0.04843	0.52029155784	0.51673	0.3877102413503237	0.38686	0.614684237112	0.55976	0.560583651066	0.47350	T	0.030358	0.21540	T	-0.296825	0.08963	T	-0.353626	0.38790	T	0.278664754799375	0.24115	T	0.970003	0.89184	D	0.21942842	0.44474	0.19121166	0.42568	0.21942842	0.44474	0.19121166	0.42567	-4.501	0.45410	T	.	.	0.112	0.33319	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	6.825449	0.95786	35	0.99519932116507959	0.69161	0.99814	0.99640	D	AEFI	0.959782	0.98027	D	0.64781032130792	0.76226	6.447702	0.663506418969932	0.79621	7.121026	0.999999987228113	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.55	5.55	0.83298	7.713000	0.83653	7.706000	0.66547	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.513	0.95141	844	0.36711	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	703.33	36	chr12	81339315	.	C	G	703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.031;DP=664;ExcessHet=0;FS=1.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.058;SOR=0.414	GT:AD:DP:GQ:PL	0/1:25,25:50:99:717,0,779	18	0	1	0
chr12	85127833	85127833	A	G	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon18:c.A4009G:p.M1337V	.	430	1078	14	0	0	14	0.00645161	0.0001	0.09	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0048	0.00319489	0.0045	0.0009	0.0034	0	0.0047	0.0063	0.0011	0.0030	0.0044954	695	154602	rs181317257	0.0059	0.0059	0.0059	0.0058	0.0067	0.0057	0.0057	0.0065	0.0065	0.0009	0.0039	0.0064	0	0.0046	0.0035	0.0067	0.0048	0.0026	0.0043	0.0043	0.0043	0.0044	0.0073	0.0041	0.0040	0.0062	0.0058	0.0011	0.0132	0.0073	0.0066	0	0.0041	0.0102	0.0060	0.0009	0.0027	1.0	0.00964	T	0.211	0.26631	T	0.001	0.07471	B	0.008	0.13708	B	0.737364	0.06407	U	100.696000	1	0.08975	N	0.895	0.22405	L	1.82	0.25018	T	-1.29	0.32387	N	0.169	0.17966	-0.9984	0.30367	T	0.024	0.10284	T	10	0.005805701	0.00130	T	.	.	.	0.039	0.10176	.	.	0.220303561663	0.21668	0.1284494478958176	0.12769	0.0117248453116	0.01102	0.253521382809	0.04148	T	0.002799	0.02196	T	-0.635241	0.00089	T	-0.681531	0.06890	T	0.0061227374846562	0.00068	T	0.510149	0.16261	T	0.07926014	0.18099	0.09185938	0.21618	0.07926014	0.18098	0.09185938	0.21617	-4.5	0.30889	T	.	.	0.123	0.25656	B	.	.	0.872442	0.12455	8.986	0.3053598178810511	0.01675	0.05764	0.11695	N	AEFI	0.073992	0.14818	N	-0.872595871607702	0.11497	0.555169	-0.825335078325972	0.13882	0.7225134	1.65370593309427E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	0.044	0.13543	0.168000	0.16438	0.979000	0.23112	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.737000	0.35335	0.3563:0.0:0.2409:0.4028	3.897	0.08648	874	0.30607	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.010101	0.001359	0.000000	0.000000	0.008621	0.006098	0.000000	0.02632	1666.33	34	chr12	85127833	.	A	G	1666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.481;SOR=0.668	GT:AD:DP:GQ:PL	0/1:70,66:136:99:1680,0,1647	18	0	1	0
chr12	91158305	91158305	T	A	exonic	DCN	.	nonsynonymous SNV	DCN:NM_001920:exon4:c.A529T:p.I177F,DCN:NM_133503:exon4:c.A529T:p.I177F	Corneal dystrophy, congenital stromal, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	318701	Congenital_stromal_corneal_dystrophy	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048,Orphanet:101068	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.162	0.0434204185267	0.0003	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0002	0.0001746	27	154602	rs201430261	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	2.238e-05	7.688e-05	0	1.872e-05	0	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0	0	0.0002	0	0	0	0	0.0004	0	0	0.715	0.22224	T	0.262	0.22895	T	0.067	0.23653	B	0.061	0.26820	B	0.000000	0.84330	D	0.045200	1	0.81001	D	2.31	0.66127	M	0.39	0.63738	T	-0.05	0.08653	N	0.777	0.77413	-0.6667	0.61977	T	0.258	0.62912	T	10	0.14546219	0.27592	T	0.04342	0.60972	D	0.162	0.41843	.	.	0.732782589432	0.73040	0.5489588781211946	0.54821	0.38299773621	0.39630	0.646886765957	0.59543	T	0.17615	0.52598	T	-0.121753	0.32837	T	-0.0984084	0.63520	T	0.0801899954761229	0.10012	T	0.944006	0.78847	D	0.14859472	0.33916	0.14975591	0.35346	0.1360819	0.31558	0.17321578	0.39631	-6.843	0.52878	T	.	.	0.337	0.68682	B	.;.;.;.;.	.;.;.;.;.	2.833281	0.37356	20.5	0.97928025065641955	0.36935	0.98327	0.81666	D	AEFBI	0.950544	0.96427	D	0.0979864267428244	0.46368	2.878293	0.206825515358632	0.50225	3.216869	0.946249838312922	0.27697	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	4.36	0.51643	5.945000	0.69938	5.074000	0.47205	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.1355:0.8645	12.889	0.57455	909	0.22467	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	930.33	37	chr12	91158305	.	T	A	930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.709;DP=698;ExcessHet=0;FS=0.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.072;SOR=0.874	GT:AD:DP:GQ:PL	0/1:34,35:69:99:944,0,903	18	0	1	0
chr12	101764660	101764660	T	A	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon13:c.A2257T:p.I753L	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1880310	Pseudo-Hurler_polydystrophy|Mucolipidosis_type_II|Inborn_genetic_diseases	MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577|MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.306	0.0424221710048	.	.	8.265e-06	0	0	0	0	0	0	6.086e-05	2.59e-05	4	154602	rs781633355	1.095e-05	1.163e-05	8.174e-06	1.376e-05	0.0003	6.49e-06	5.25e-06	0.0002	0.0001	0.0003	0	0	0	0	0.0002	0	4.972e-05	2.327e-05	6.569e-06	6.566e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.706	0.04094	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.075390	0.02296	N	1.798850	1	0.08975	N	0.49	0.13296	N	-3.84	0.95826	D	-0.01	0.07155	N	0.185	0.20129	-0.3301	0.74130	T	0.564	0.84170	D	10	0.07096872	0.10398	T	0.042422	0.60457	D	0.306	0.62729	0.456	0.52102	0.356072328145	0.35220	0.2739993257150685	0.27312	0.217568787916	0.24277	0.223526865244	0.01523	T	0.085199	0.37449	T	-0.119444	0.33216	T	-0.308719	0.43797	T	0.0415830576048497	0.03978	T	0.292171	0.05356	T	0.03538459	0.04153	0.02558262	0.00609	0.03538459	0.04153	0.02558262	0.00608	-3.057	0.10809	T	0.0997698095423862	0.07284	0.067	0.02399	B	.	.	-1.484387	0.00304	0.005	0.73144559137412846	0.10222	0.05718	0.11642	N	AEFDGBI	0.102924	0.20634	N	-1.9250950656503	0.00305	0.01308793	-2.01553603369058	0.00284	0.01253334	0.999999999999999	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.7	-11.4	0.00070	-4.326000	0.00288	-3.163000	0.03007	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.454000	0.27984	0.0688:0.5203:0.2503:0.1606	9.487	0.38100	470	0.78111	DMAP1-binding domain|DMAP1-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2923.33	34	chr12	101764660	.	T	A	2923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=866;ExcessHet=0;FS=1.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.658;SOR=0.566	GT:AD:DP:GQ:PL	0/1:104,110:214:99:2937,0,2680	18	0	1	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*42,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCT:p.V329Rfs*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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2004.32	46	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCT	2004.32	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.31;DP=2233;ExcessHet=5.3738;FS=11.033;InbreedingCoeff=-0.3104;MLEAC=4;MLEAF=0.105;MQ=58.71;MQRankSum=-9.421;QD=1.62;ReadPosRankSum=-4.38;SOR=1.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,12:136:80:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:80,0,5133:103984920	15	0	4	0
chr12	103984922	103984922	-	TAAGGA	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGGA;NM_003211:exon8:c.964+2->TAAGGA	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.532e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	772.7	46	chr12	103984922	.	T	TTAAGGA	772.7	.	AC=1;AF=0.033;AN=30;BaseQRankSum=3.96;DP=2041;ExcessHet=1.3;FS=5.251;InbreedingCoeff=-0.2259;MLEAC=1;MLEAF=0.033;MQ=58.85;MQRankSum=-9.421;QD=1.13;ReadPosRankSum=-2.683;SOR=1.285	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,12:136:81:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:81,0,5132:103984920	14	0	1	4
chr12	109405949	109405949	T	G	exonic	MYO1H	.	nonsynonymous SNV	MYO1H:NM_001101421:exon7:c.T829G:p.L277V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.793	0.176872912378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	0.904349	0.36249	D	3.615	0.93875	H	-3.63	0.95111	D	-2.03	0.46673	N	0.905	0.91162	1.056	0.98246	D	0.930	0.97686	D	9	0.9142549	0.90788	D	0.176873	0.85250	D	0.793	0.93188	0.761	0.88972	0.904799045233	0.90384	0.6315073198694297	0.63084	0.460900775349	0.45645	0.678636908531	0.64073	T	.	.	.	0.317372	0.84285	D	0.218107	0.84080	D	0.939339816570282	0.61071	D	0.978902	0.92647	D	.	.	.	.	.	.	.	.	-9.782	0.72595	D	.	.	0.304	0.54441	B	.;.	.;.	3.578059	0.50425	22.9	0.99787080170663711	0.87308	0.88015	0.47762	D	AEFDBI	0.621529	0.60619	D	0.372993332255595	0.59962	4.18034	0.209511604886479	0.50375	3.23016	0.00273485149282171	0.09669	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	3.03	0.34070	1.488000	0.35160	2.548000	0.33250	-0.203000	0.08628	0.999000	0.42656	1.000000	0.68203	0.930000	0.46718	0.0:0.8312:0.0:0.1688	10.069	0.41497	.	.	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1526.33	34	chr12	109405949	.	T	G	1526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.731;DP=792;ExcessHet=0;FS=2.331;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.269;SOR=0.495	GT:AD:DP:GQ:PL	0/1:58,64:122:99:1540,0,1474	18	0	1	0
chr12	111702254	111702254	G	C	exonic	ACAD10	.	nonsynonymous SNV	ACAD10:NM_001136538:exon3:c.G280C:p.A94P,ACAD10:NM_025247:exon3:c.G280C:p.A94P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0373141519834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	2.24e-05	7.732e-05	0	0	0.0004	0.0002	0.0001	5.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.72154	D	0.029	0.79402	D	0.963	0.55692	D	0.602	0.50862	P	0.007397	0.31425	N	0.222822	1	0.81001	D	0.695	0.17993	N	2.95	0.09635	T	-2.42	0.53096	N	0.442	0.60410	-1.1983	0.00163	T	0.042	0.18202	T	10	0.47138333	0.59883	T	0.037314	0.57541	D	0.254	0.56428	0.727	0.86111	0.530852358449	0.52733	0.7634971630154191	0.76297	0.607455808728	0.55555	0.344899773598	0.17168	T	0.271746	0.64409	T	-0.108354	0.35039	T	-0.393419	0.34152	T	0.738627551699252	0.42663	D	0.732227	0.45757	T	0.33670285	0.56016	0.38002715	0.63044	0.33670285	0.56016	0.38002715	0.63044	-10.061	0.74276	D	.	.	0.844	0.79432	P	.;.;.;.	.;.;.;.	4.899048	0.80508	27.3	0.99731050189706616	0.82761	0.97118	0.72795	D	AEFBI	0.814060	0.73638	D	0.420087935551001	0.62526	4.470066	0.4971641940229	0.67801	5.133027	0.993659247621036	0.33302	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	6.689000	0.74392	9.809000	0.81737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.0:1.0:0.0	18.426	0.90554	533	0.73433	.;Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal;.;Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	99.78	52	chr12	111702254	.	G	C	99.78	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-1.271;DP=966;ExcessHet=0.3672;FS=437.102;InbreedingCoeff=-0.1794;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=0.741;SOR=9.19	GT:AD:DP:GQ:PL	0/1:51,21:72:27:27,0,762	11	0	3	5
chr12	119472155	119472155	C	-	exonic	CCDC60	.	frameshift deletion	CCDC60:NM_178499:exon3:c.332delC:p.L112Yfs*2	.	428	1077	17	0	0	17	0.00783049	.	.	.	3185424	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0010	0.000798722	0.0007	9.619e-05	0.0011	0	0	0.0008	0	0.0007	0.0005757	89	154602	rs559574757	0.0006	0.0006	0.0006	0.0006	0.0094	0.0006	0.0006	0.0074	0.0067	0.0002	0.0014	7.654e-05	0	0	0.0094	0.0006	0.0011	0.0008	0.0006	0.0006	0.0006	0.0006	0.0013	0.0005	0.0005	0.0009	0.0007	0.0001	0	0.0013	0	0	0	0.0204	0.0008	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011593	0.015152	0.009511	0.020588	0.050000	0.025862	0.006098	0.000000	0.02632	1253.29	34	chr12	119472154	.	AC	A	1253.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.78;DP=752;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0.581;SOR=0.797	GT:AD:DP:GQ:PL	0/1:82,44:126:99:1267,0,2672	18	0	1	0
chr12	122857133	122857133	G	A	exonic	HIP1R	.	nonsynonymous SNV	HIP1R:NM_001303097:exon18:c.G1733A:p.R578H,HIP1R:NM_001303099:exon18:c.G1697A:p.R566H,HIP1R:NM_003959:exon18:c.G1733A:p.R578H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0226668819166	.	.	6.292e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs773380838	4.935e-05	5.062e-05	5.081e-05	4.785e-05	0.0002	3.966e-05	3.634e-05	7.308e-05	4.94e-05	0	0	0	0.0002	0	0	5.376e-05	3.449e-05	3.787e-05	5.912e-05	5.91e-05	5.137e-05	6.724e-05	0.0004	3.077e-05	2.21e-05	6.806e-05	2.849e-05	2.412e-05	0	6.541e-05	0	0.0004	0	0	7.349e-05	0	0	0.162	0.23541	T	0.114	0.36765	T	0.46	0.36353	P	0.172	0.35394	B	0.003116	0.35419	N	0.310764	0.576171	0.32335	D	1.605	0.40863	L	2.42	0.15376	T	-0.81	0.22294	N	0.16	0.16725	-1.0139	0.25688	T	0.032	0.13679	T	10	0.06375334	0.08352	T	0.022667	0.45580	T	0.041	0.10877	0.246	0.18139	0.176091768786	0.17195	0.09126070047248144	0.09059	0.111349494379	0.12561	0.407982677221	0.26177	T	0.096006	0.39736	T	-0.456672	0.01031	T	-0.614319	0.11637	T	0.0404209735785379	0.03767	T	0.818018	0.47523	T	0.020249203	0.00577	0.025766483	0.00633	0.020249203	0.00577	0.025766483	0.00633	-6.571	0.50831	T	.	.	0.093	0.14155	B	.	.	1.731891	0.22039	15.46	0.99564178698381667	0.71953	0.02300	0.06612	N	AEFDBI	0.081911	0.16580	N	-0.463866975054561	0.23272	1.248559	-0.575472969796277	0.20133	1.083356	0.955668266710698	0.28202	0.706548	0.73137	0	0.723109	0.82256	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.56	-0.152	0.12751	0.634000	0.24304	-0.508000	0.08762	-0.117000	0.14459	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.5523:0.0:0.4477:0.0	7.633	0.27421	313	0.87327	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1125.33	43	chr12	122857133	.	G	A	1125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1.93;SOR=0.665	GT:AD:DP:GQ:PL	0/1:54,42:96:99:1139,0,1309	18	0	1	0
chr12	131719498	131719498	G	A	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon4:c.G565A:p.V189I,SFSWAP:NM_004592:exon4:c.G565A:p.V189I	.	435	1058	28	1	0	30	0.0139795	.	.	.	2817140	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00437233703301	0.0045	0.00219649	0.0050	0.0009	0.0010	0	0.0068	0.0057	0.0044	0.0093	0.0047735	738	154602	rs35562367	0.0056	0.0056	0.0054	0.0058	0.0107	0.0055	0.0055	0.0101	0.0099	0.0015	0.0016	0.0015	5.038e-05	0.0074	0.0038	0.0057	0.0049	0.0107	0.0044	0.0044	0.0041	0.0047	0.0104	0.0041	0.0040	0.0081	0.0073	0.0010	0	0.0042	0.0017	0	0.0063	0	0.0063	0.0019	0.0104	0.593	0.05755	T	0.741	0.04965	T	0.012	0.16265	B	0.004	0.10090	B	0.063418	0.22027	N	0.532850	0.890863	0.35949	D	-0.585	0.02270	N	2.85	0.10578	T	-0.37	0.13226	N	0.119	0.10911	-0.9502	0.40938	T	0.008	0.02801	T	10	0.0062130988	0.00140	T	0.004372	0.10655	T	0.031	0.07369	.	.	0.123314135267	0.11883	0.07507751784154569	0.07443	0.666889320388	0.59220	0.264494180679	0.05438	T	0.094017	0.39330	T	-0.662726	0.00060	T	-0.717202	0.04932	T	0.0058287017804224	0.00064	T	0.80112	0.44691	T	0.018225698	0.00343	0.0262128	0.00698	0.018225698	0.00343	0.0262128	0.00698	-2.446	0.05573	T	.	.	0.064	0.01762	B	.;.	.;.	0.376821	0.07489	4.131	0.8096812678778319	0.13455	0.58450	0.30645	D	AEFBCI	0.045792	0.07529	N	-1.05591377937999	0.07472	0.3472182	-0.965469141550142	0.10566	0.5329898	0.99624934018087	0.34617	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	-3.14	0.04928	0.287000	0.18678	-0.046000	0.12607	-0.244000	0.07312	0.977000	0.34929	0.000000	0.08366	0.322000	0.25017	0.4654:0.0:0.5346:0.0	14.097	0.64559	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.015152	0.05263	2344.83	33	chr12	131719498	.	G	A	2344.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.705;DP=831;ExcessHet=0.119;FS=0.99;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.04;SOR=0.604	GT:AD:DP:GQ:PL	0/1:66,55:121:99:1210,0,1553	17	0	2	0
chr12	133057131	133057131	A	G	exonic	ZNF84	.	nonsynonymous SNV	ZNF84:NM_001127372:exon5:c.A416G:p.H139R,ZNF84:NM_001289971:exon5:c.A416G:p.H139R,ZNF84:NM_001289972:exon5:c.A416G:p.H139R,ZNF84:NM_003428:exon5:c.A416G:p.H139R	.	437	1040	43	2	0	47	0.0220969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00447556693994	.	.	.	.	.	.	.	.	.	.	0.0009444	146	154602	rs34737533	0.0090	0.0090	0.0083	0.0096	0.0264	0.0088	0.0088	0.0255	0.0251	0.0013	0.0020	0.0211	5.043e-05	0.0117	0.0153	0.0080	0.0088	0.0264	0.0062	0.0062	0.0059	0.0065	0.0253	0.0059	0.0057	0.0216	0.0203	0.0013	0	0.0018	0.0248	0	0.0106	0.0136	0.0077	0.0047	0.0253	0.114	0.28646	T	0.242	0.24264	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.695	0.17993	N	3.28	0.06523	T	-1.93	0.48020	N	0.106	0.09914	-0.9089	0.46989	T	0.011	0.04181	T	9	0.00363034	0.00066	T	0.004476	0.10969	T	0.034	0.08419	0.324	0.30549	0.0884992946249	0.08302	0.024537132809481346	0.02404	.	.	0.391508877277	0.23882	T	0.023923	0.22444	T	-0.28398	0.10251	T	-0.645694	0.09259	T	0.0269218725694647	0.01533	T	0.00476952	0.20971	T	0.10477009	0.24768	0.11534372	0.27843	0.10477009	0.24768	0.11534372	0.27842	-5.897	0.45410	T	.	.	0.119	0.24498	B	.;.;.;.;.	.;.;.;.;.	1.430539	0.18485	13.76	0.81679202589218514	0.13806	0.05815	0.11754	N	AEFGBI	0.065066	0.12669	N	-0.815567604091794	0.12913	0.63255	-0.763042789295934	0.15402	0.8098858	0.00987751702512974	0.11927	0.562547	0.31514	0	0.614415	0.52539	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	2.4	1.25	0.20475	0.055000	0.14112	0.928000	0.22757	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.8275:0.0:0.1725:0.0	4.153	0.09711	884	0.28482	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	5832.79	38	chr12	133057131	.	A	G	5832.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.038;DP=1301;ExcessHet=0.3672;FS=0.521;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.97;SOR=0.753	GT:AD:DP:GQ:PL	0/1:79,97:176:99:2394,0,1826	16	0	3	0
chr12	133231583	133231583	C	T	exonic	ANHX	.	nonsynonymous SNV	ANHX:NM_001191054:exon3:c.G311A:p.R104H,ANHX:NM_001372060:exon3:c.G311A:p.R104H	.	.	.	.	.	.	.	.	.	.	.	2357138	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.086	0.00158733440178	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs756419511	0.0002	0.0001	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0	0.0004	0	0	2.953e-05	0	0.0002	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0016	0.0002	0.0002	0.0011	0.0009	2.406e-05	0	0.0016	0	0.0002	0	0	0.0002	0.0005	0	0.482	0.08188	T	0.41	0.14544	T	0.008	0.14655	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.56	0.15190	N	1.96	0.22270	T	-0.34	0.12661	N	0.124	0.11626	-1.0249	0.22116	T	0.039	0.16935	T	8	0.028970242	0.01025	T	0.001587	0.02548	T	0.086	0.25016	0.543	0.65589	0.0482279557977	0.04254	0.1749943876149045	0.17418	.	.	0.375503480434	0.21618	T	0.27131	0.64364	T	-0.640578	0.00083	T	-0.843664	0.01045	T	0.0122561807044005	0.00198	T	0.518348	0.16810	T	0.03275138	0.03360	0.054215375	0.09283	0.03275138	0.03359	0.054215375	0.09283	-2.786	0.08055	T	.	.	0.086	0.10449	B	.;.	.;.	0.690620	0.10591	7.298	0.92057240201938173	0.21402	0.00273	0.01482	N	AEFDBI	0.017807	0.00493	N	-1.53531020869138	0.01622	0.07092431	-1.61174113173213	0.01585	0.07189369	0.0305840625151526	0.13953	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.88	-5.29	0.02535	-1.306000	0.02844	-4.081000	0.02354	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.912000	0.44740	0.0:0.3002:0.0:0.6998	12.257	0.53947	363	0.84772	Homeobox protein SIX1, N-terminal SD domain;Homeobox protein SIX1, N-terminal SD domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1774.33	33	chr12	133231583	.	C	T	1774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.085;DP=835;ExcessHet=0;FS=0.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.752;SOR=0.65	GT:AD:DP:GQ:PL	0/1:79,75:154:99:1788,0,1905	18	0	1	0
chr13	23339410	23339410	T	C	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.A4025G:p.N1342S,SACS:NM_014363:exon10:c.A4466G:p.N1489S	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	1	1454	64	3	0	70	0.0235057	.	.	YES	208019	Spastic_paraplegia|not_specified|Charlevoix-Saguenay_spastic_ataxia|not_provided|Hereditary_spastic_paraplegia|Abnormal_brain_morphology	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN169374|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.134	.	0.0065	0.00678914	0.0091	0.0009	0.0023	0	0.0023	0.0083	0.0088	0.0297	0.0084087	1300	154602	rs147099630	0.0079	0.0079	0.0069	0.0089	0.0291	0.0078	0.0077	0.0281	0.0277	0.0008	0.0028	0.0431	2.522e-05	0.0018	0.0141	0.0063	0.0095	0.0291	0.0059	0.0059	0.0059	0.0059	0.0263	0.0056	0.0055	0.0226	0.0212	0.0010	0	0.0031	0.0406	0	0.0017	0.0238	0.0075	0.0057	0.0263	0.212	0.19500	T	0.269	0.23231	T	0.0	0.02946	B	0.0	0.01387	B	0.001825	0.37892	N	0.341308	0.98623	0.24636	N	-0.49	0.02651	N	-2.0	0.85393	D	-0.28	0.11547	N	0.483	0.68603	-0.8642	0.50959	T	0.234	0.60112	T	10	0.008807957	0.00200	T	.	.	.	0.134	0.36365	.	.	0.56265594507	0.55928	0.17659087741127028	0.17578	.	.	0.489309668541	0.37342	T	0.158768	0.50192	T	-0.499666	0.00574	T	-0.466827	0.25858	T	0.0105743857020173	0.00147	T	0.883612	0.60617	D	0.021812556	0.00805	0.022847008	0.00303	0.022901403	0.00986	0.022847008	0.00303	-4.564	0.31716	T	0.040593196363678564	0.00365	0.067	0.02518	B	.;.	.;.	1.396060	0.18093	13.54	0.81999204661806668	0.13967	0.74567	0.36481	D	AEFBHCI	0.113903	0.22456	N	-0.661578866532214	0.17123	0.8784784	-0.48624356155959	0.22532	1.224273	0.99982141832748	0.43622	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.96	2.19	0.26890	1.491000	0.35192	3.545000	0.39022	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.1988:0.1271:0.6741	5.898	0.18192	986	0.02773	.;.	.	.	.	.	.	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	0.013595	0.000000	0.009511	0.014620	0.000000	0.025862	0.018293	0.015152	0.02632	2126.33	58	chr13	23339410	.	T	C	2126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=1327;ExcessHet=0;FS=6.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.958;SOR=0.717	GT:AD:DP:GQ:PL	0/1:86,79:165:99:2140,0,2366	18	0	1	0
chr13	25096847	25096847	G	A	exonic	PABPC3	.	nonsynonymous SNV	PABPC3:NM_030979:exon1:c.G649A:p.A217T	.	420	1061	37	3	1	44	0.0198614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	0.0017	0.00459265	0.0036	0.0002	0.0010	0.0002	0	0.0018	0.0088	0.0176	0.0031953	494	154602	rs143751914	0.0024	0.0024	0.0019	0.0028	0.0174	0.0023	0.0023	0.0167	0.0164	0.0002	0.0012	0.0002	0.0001	0.0001	0.0101	0.0015	0.0028	0.0174	0.0016	0.0017	0.0016	0.0017	0.0147	0.0015	0.0014	0.0120	0.0110	0.0004	0	0.0010	0	0	0	0.0034	0.0020	0.0038	0.0147	0.428	0.09600	T	0.234	0.24840	T	0.001	0.07471	B	0.003	0.08700	B	0.000270	0.46590	U	0.000000	0.995071	0.42533	D	0.125	0.08623	N	2.41	0.15492	T	0.08	0.06026	N	0.148	0.15046	-0.9779	0.35481	T	0.016	0.06425	T	10	0.0029929578	0.00049	T	.	.	.	0.126	0.34673	.	.	0.137902524267	0.13322	0.2867122076612506	0.28584	0.107254379592	0.12108	0.343643277884	0.16981	T	0.021667	0.16835	T	-0.197106	0.21222	T	-0.520906	0.20202	T	0.0126773923273149	0.00213	T	0.670533	0.27914	T	0.02957364	0.02474	0.06000728	0.11357	0.02957364	0.02473	0.06000728	0.11356	1.297	0.00100	T	.	.	0.083	0.09045	B	.	.	0.910299	0.12847	9.360	0.59432665177813537	0.06223	0.52129	0.29058	D	AEFBCI	0.076515	0.15394	N	-1.32822826808265	0.03356	0.1497702	-1.31897576965958	0.04185	0.1968691	0.00118211392037886	0.08314	0.706298	0.61202	0	0.383324	0.06291	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	0.993	-1.82	0.07433	3.292000	0.51478	4.649000	0.44188	-2.509000	0.00261	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.1895:0.0:0.568:0.2425	3.296	0.06558	929	0.16858	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Likely benign	0	0	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	0.011123	0.005102	0.004076	0.000000	0.000000	0.034483	0.030488	0.011364	0.02632	1529.33	227	chr13	25096847	.	G	A	1529.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.461;DP=3133;ExcessHet=0;FS=3.626;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.63;MQRankSum=3.35;QD=8.94;ReadPosRankSum=0.188;SOR=0.717	GT:AD:DP:GQ:PL	0/1:107,64:171:99:1543,0,3160	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	3058.4	221	chr13	25097003	.	A	T	3058.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.405;DP=3659;ExcessHet=2.0135;FS=2.941;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=59.24;MQRankSum=-3.073;QD=2.12;ReadPosRankSum=-1.584;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,22:221:99:0|1:25097003_A_T:325,0,8290:25097003	13	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	19368.9	262	chr13	25097016	.	AGACG	A	19368.9	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.12;DP=4461;ExcessHet=25.4433;FS=7.09;InbreedingCoeff=-0.7273;MLEAC=4;MLEAF=0.105;MQ=59.31;MQRankSum=-9.731;QD=4.48;ReadPosRankSum=-0.48;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:233,23:256:99:0|1:25097003_A_T:264,0,9714:25097003	15	0	4	0
chr13	25097030	25097030	C	0	exonic	PABPC3	.	.	.	.	432	843	240	1	6	248	0.125519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	15963.1	259	chr13	25097030	.	C	*	15963.1	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.76;DP=4427;ExcessHet=25.4433;FS=7.047;InbreedingCoeff=-0.7273;MLEAC=4;MLEAF=0.105;MQ=59.21;MQRankSum=-10.43;QD=3.73;ReadPosRankSum=-0.576;SOR=1.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:242,23:265:99:0|1:25097003_A_T:237,0,10038:25097003	15	0	4	0
chr13	26046880	26046880	C	T	exonic	SHISA2	.	nonsynonymous SNV	SHISA2:NM_001007538:exon2:c.G521A:p.R174Q	.	.	.	.	.	.	.	.	.	.	.	2332980	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.224	0.0371156623683	0.0007	0.000199681	0.0004	0.0002	0.0002	0	0	0.0007	0	6.171e-05	0.0003687	57	154602	rs139872427	0.0005	0.0005	0.0005	0.0005	0.0005	0.0004	0.0004	0.0005	0.0005	0.0004	0.0002	3.833e-05	0.0003	9.366e-05	0	0.0005	0.0009	0.0001	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	0.0004	0	0.0001	0.0006	0	9.414e-05	0	0.0004	0	0.0002	0.087	0.32453	T	0.254	0.23433	T	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	1.01	0.41058	T	-0.87	0.23590	N	0.598	0.61680	-0.9107	0.46768	T	0.196	0.55085	T	10	0.24909046	0.42216	T	0.037116	0.57417	D	0.224	0.52174	.	.	0.223847106136	0.22009	0.5875195097688001	0.58681	0.96515572476	0.73150	0.705305397511	0.67912	T	0.287412	0.66021	T	-0.269297	0.11836	T	-0.277431	0.47066	T	0.0820682719349861	0.10251	T	0.909209	0.67884	D	0.1771007	0.38658	0.14424752	0.34253	0.1771007	0.38658	0.14424752	0.34252	-4.086	0.25083	T	.	.	0.318	0.54390	B	.	.	4.867615	0.79709	27.2	0.99930106304522148	0.99334	0.99028	0.90173	D	AEFDBI	0.853628	0.77060	D	0.362264463042069	0.59389	4.118024	0.287404798282104	0.54804	3.644311	0.999999999999999	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.96	4.96	0.65153	7.876000	0.85623	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.752000	0.35857	0.0:1.0:0.0:0.0	18.248	0.89930	848	0.35897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1876.33	41	chr13	26046880	.	C	T	1876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.11;DP=841;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.548;SOR=0.756	GT:AD:DP:GQ:PL	0/1:61,66:127:99:1890,0,1462	18	0	1	0
chr13	27440277	27440277	C	T	exonic	MTIF3	.	nonsynonymous SNV	MTIF3:NM_001166261:exon3:c.G172A:p.A58T,MTIF3:NM_001166262:exon3:c.G172A:p.A58T,MTIF3:NM_152912:exon3:c.G172A:p.A58T,MTIF3:NM_001166263:exon4:c.G172A:p.A58T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0113101220979	.	.	2.471e-05	0	0	0.0001	0	0	0	0.0001	2.59e-05	4	154602	rs766360130	1.231e-05	1.231e-05	8.167e-06	1.65e-05	9.275e-05	7.7e-06	6.35e-06	4.579e-05	3.272e-05	0	4.472e-05	0	0	0	0	6.295e-06	1.656e-05	9.275e-05	1.315e-05	1.314e-05	1.286e-05	1.346e-05	6.55e-05	2.19e-06	8.2e-07	.	.	0	0	6.55e-05	0	0	0	0	1.47e-05	0	0	0.494	0.07895	T	0.702	0.05685	T	0.01	0.15535	B	0.001	0.04355	B	0.471793	0.04930	N	1.299620	1	0.08975	N	0	0.06538	N	1.48	0.31731	T	-0.55	0.16799	N	0.044	0.01740	-1.0253	0.21985	T	0.032	0.13767	T	10	0.033316135	0.01505	T	0.01131	0.28804	T	0.056	0.15993	0.242	0.17524	0.232513804876	0.22884	0.1777148967862344	0.17690	0.156553927278	0.17672	0.226882249117	0.01745	T	0.006175	0.05608	T	-0.554279	0.00275	T	-0.797291	0.01971	T	0.0113433681993137	0.00168	T	0.351165	0.07832	T	0.068563096	0.14946	0.052163694	0.08539	0.068563096	0.14946	0.052163694	0.08539	-3.152	0.11903	T	.	.	0.070	0.04277	B	.;.;.	.;.;.	1.088932	0.14723	11.27	0.49037206854203341	0.04142	0.26461	0.22999	N	AEFBI	0.169599	0.29644	N	-1.27145214442883	0.04024	0.1808323	-1.17148363148112	0.06390	0.3074487	0.999915085627874	0.45857	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.82	3.18	0.35615	0.913000	0.28233	-0.016000	0.12991	-1.816000	0.00606	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6488:0.1338:0.2173	6.216	0.19870	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1568.33	34	chr13	27440277	.	C	T	1568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=765;ExcessHet=0;FS=7.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.147;SOR=1.283	GT:AD:DP:GQ:PL	0/1:79,61:140:99:1582,0,1917	18	0	1	0
chr13	32254323	32254323	A	G	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon51:c.A7345G:p.T2449A	.	0	1472	50	0	0	50	0.0167001	.	.	.	725466	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.047	.	0.0031	0.00898562	0.0065	0.0005	0.0016	0.0041	0.0039	0.0044	0.0022	0.0245	0.0058214	900	154602	rs192351218	0.0039	0.0039	0.0033	0.0046	0.0213	0.0039	0.0038	0.0204	0.0201	0.0006	0.0023	0.0033	0.0038	0.0036	0.0147	0.0027	0.0048	0.0213	0.0037	0.0037	0.0034	0.0039	0.0236	0.0034	0.0033	0.0201	0.0188	0.0008	0	0.0043	0.0037	0.0029	0.0035	0.0272	0.0039	0.0038	0.0236	.	.	.	0.952	0.02632	T	0.001	0.07471	B	0.003	0.08700	B	0.001155	0.40056	N	0.296096	0.916143	0.36544	D	1.525	0.38595	L	.	.	.	.	.	.	0.104	0.08786	-1.0644	0.10689	T	0.036	0.15553	T	10	0.0036722124	0.00067	T	.	.	.	0.047	0.12962	.	.	0.043077524339	0.03247	0.26827228298660577	0.26740	0.390152499004	0.40238	0.468544095755	0.34480	T	0.021424	0.16683	T	-0.582555	0.00186	T	-0.592656	0.13437	T	0.00881356298500261	0.00109	T	0.772923	0.40417	T	0.043323237	0.06732	0.032588337	0.02018	0.043323237	0.06731	0.032588337	0.02018	-3.869	0.21839	T	.	.	0.072	0.04396	B	.;.;.;.;.	.;.;.;.;.	2.167731	0.27620	17.52	0.93253645255033513	0.22944	0.80571	0.40173	D	AEFGBHCI	0.237725	0.35996	N	-0.396740501119558	0.25585	1.38994	-0.222223952144809	0.30741	1.733514	0.999999917014364	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.654926	0.60358	0	.	.	5.72	3.21	0.35933	2.421000	0.44343	0.884000	0.22419	0.756000	0.94297	1.000000	0.71638	0.011000	0.20116	0.988000	0.63387	0.7049:0.0:0.1436:0.1515	5.747	0.17396	940	0.13648	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.014099	0.005051	0.012228	0.014620	0.050000	0.008621	0.024390	0.003788	0.02632	1396.33	34	chr13	32254323	.	A	G	1396.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.328;DP=767;ExcessHet=0;FS=0.629;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.499;SOR=0.591	GT:AD:DP:GQ:PL	0/1:77,64:141:99:1410,0,1847	18	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1334.06	229	chr13	38859428	.	G	C	1334.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.406;DP=2557;ExcessHet=11.1788;FS=276.801;InbreedingCoeff=-0.4865;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.46;SOR=13.172	GT:AD:DP:GQ:PL	0/1:90,59:154:99:162,0,1456	6	0	12	1
chr13	41331301	41331301	A	T	exonic	NAA16	.	nonsynonymous SNV	NAA16:NM_001110798:exon8:c.A839T:p.Y280F,NAA16:NM_018527:exon8:c.A839T:p.Y280F,NAA16:NM_024561:exon8:c.A839T:p.Y280F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0126499703548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.035	0.52389	D	0.329	0.33227	B	0.327	0.41976	B	0.000169	0.48594	D	0.088698	0.999923	0.51308	D	2.26	0.64354	M	0.41	0.57100	T	-2.75	0.62343	D	0.468	0.51137	-0.8716	0.50409	T	0.196	0.55013	T	10	0.26585484	0.44085	T	0.01265	0.31409	T	0.190	0.46781	0.612	0.74535	0.37097340754	0.36704	0.4121780232302479	0.41133	0.101249323043	0.11452	0.588627755642	0.51300	T	0.216786	0.57905	T	0.00271469	0.52027	T	-0.233877	0.51396	T	0.896781504154205	0.54857	D	0.948805	0.80311	D	0.22704008	0.45397	0.17595027	0.40096	0.22704008	0.45397	0.17595027	0.40095	-6.504	0.54544	T	.	.	0.180	0.39134	B	.;.	.;.	2.419685	0.31114	18.64	0.97350771983523454	0.33520	0.95609	0.65407	D	AEFBI	0.547535	0.56119	D	0.00926957456102959	0.42275	2.544174	0.120988199035615	0.45625	2.822266	0.999884755272965	0.44867	0.706298	0.61202	0	0.708844	0.79440	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.53	4.32	0.50899	4.554000	0.60470	6.341000	0.55476	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8603:0.1396:0.0:0.0	12.524	0.55420	717	0.55835	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	760.33	38	chr13	41331301	.	A	T	760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.202;DP=704;ExcessHet=0;FS=0.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-1.215;SOR=0.718	GT:AD:DP:GQ:PL	0/1:34,34:68:99:774,0,777	18	0	1	0
chr13	42300272	42300272	C	T	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.C1526T:p.T509I	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0152407981966	.	.	.	.	.	.	.	.	.	.	.	.	.	rs768865494	4.105e-06	4.104e-06	1.362e-06	6.877e-06	0.0005	1.48e-06	9.7e-07	0.0001	7.546e-05	0	0	0	0	0	0.0005	0	1.657e-05	2.32e-05	1.315e-05	1.313e-05	0	2.691e-05	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	0.009	0.57480	D	0.07	0.43721	T	0.029	0.19866	B	0.009	0.14300	B	0.035811	0.01808	U	421.087000	1	0.08975	N	1.61	0.41143	L	0.65	0.52642	T	-0.89	0.24026	N	0.15	0.15328	-1.0083	0.27448	T	0.126	0.43257	T	10	0.071614236	0.10582	T	0.015241	0.35857	T	0.048	0.13305	.	.	0.216943180021	0.21308	0.11420177038766537	0.11348	0.0723974001252	0.08119	0.329601883888	0.14874	T	0.004176	0.03581	T	-0.214648	0.18729	T	-0.546104	0.17701	T	0.156438749911296	0.17605	T	0.709529	0.32034	T	0.053491667	0.10131	0.05256129	0.08682	0.053491667	0.10131	0.05256129	0.08681	-3.635	0.18364	T	.	.	0.132	0.28521	B	.	.	0.314096	0.06893	3.427	0.96260964504141544	0.29215	0.34456	0.25071	N	AEFBCI	0.069697	0.13806	N	-0.629960854365577	0.18049	0.9339046	-0.626989208827852	0.18801	1.005944	0.998167778400248	0.36515	0.706548	0.73137	0	0.724815	0.89359	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	5.63	3.85	0.43556	0.926000	0.28405	-0.808000	0.07346	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.124:0.5621:0.2413:0.0726	6.423	0.20958	694	0.58444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1684.33	34	chr13	42300272	.	C	T	1684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.291;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-1.121;SOR=0.712	GT:AD:DP:GQ:PL	0/1:76,67:143:99:1698,0,2052	18	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5180.53	132	chr13	42303097	.	G	C	5180.53	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.864;DP=2672;ExcessHet=20.8569;FS=361.789;InbreedingCoeff=-0.6834;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=0.708;SOR=13.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:114,50:164:99:.:.:332,0,2499:.	3	0	15	1
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	830.1	154	chr13	69882456	.	G	A	830.1	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.494;DP=2397;ExcessHet=13.8672;FS=177.744;InbreedingCoeff=-0.5332;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.578;SOR=13.216	GT:AD:DP:GQ:PL	0/1:90,36:145:99:148,0,1681	6	0	13	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2667	1262.59	138	chr13	102737670	.	C	G	1262.59	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-5.507;DP=3002;ExcessHet=4.0268;FS=282.115;InbreedingCoeff=-0.3588;MLEAC=9;MLEAF=0.3;MQ=59.98;MQRankSum=0;QD=0.86;ReadPosRankSum=2.02;SOR=12.288	GT:AD:DP:GQ:PL	0/1:167,44:211:37:37,0,3871	7	0	8	4
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3438	1600.25	68	chr13	102738219	.	C	G	1600.25	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-5.612;DP=3603;ExcessHet=8.9063;FS=275.066;InbreedingCoeff=-0.4786;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=2.08;SOR=13.102	GT:AD:DP:GQ:PL	0/1:153,52:211:99:231,0,3786	5	0	11	3
chr13	110683120	110683120	C	T	exonic	CARS2	.	nonsynonymous SNV	CARS2:NM_001352253:exon6:c.G586A:p.D196N,CARS2:NM_024537:exon6:c.G586A:p.D196N	Combined oxidative phosphorylation deficiency 27, Autosomal recessive	425	1071	24	2	0	28	0.0129032	.	.	.	372648	Combined_oxidative_phosphorylation_defect_type_27|not_provided|not_specified	MONDO:MONDO:0014728,MedGen:C5567608,OMIM:616672,Orphanet:477774|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.183	.	0.0008	0.00559105	0.0037	9.645e-05	0.0004	0.0001	0	0.0018	0.0022	0.0202	0.0032406	501	154602	rs140082252	0.0018	0.0019	0.0012	0.0024	0.0191	0.0017	0.0017	0.0184	0.0180	6.205e-05	0.0002	0.0191	2.608e-05	0	0.0067	0.0003	0.0027	0.0191	0.0014	0.0014	0.0010	0.0017	0.0166	0.0012	0.0012	0.0136	0.0126	7.226e-05	0	0.0005	0.0228	0	0	0.0034	0.0005	0.0019	0.0166	0.118	0.28148	T	0.113	0.36901	T	0.973	0.57599	D	0.801	0.58220	P	0.000000	0.84330	D	0.000000	0.999593	0.47742	D	1.46	0.36832	L	1.19	0.37578	T	-3.56	0.68880	D	0.375	0.41656	-0.8956	0.48427	T	0.166	0.50389	T	10	0.01248005	0.00268	T	.	.	.	0.183	0.45592	.	.	0.595618126301	0.59240	0.8516638287777879	0.85128	0.36004956123	0.37690	0.491516232491	0.37649	T	0.577534	0.86113	D	-0.486362	0.00680	T	-0.456465	0.26985	T	0.0485474203814761	0.05241	T	0.931207	0.74412	D	0.35733855	0.57633	0.32977292	0.58853	0.35223567	0.57240	0.32805425	0.58697	-7.284	0.56081	T	0.2633904641875997	0.35534	0.159	0.35077	B	.	.	4.530673	0.71121	25.6	0.99873699423563034	0.95076	0.85523	0.44664	D	AEFDBCI	0.317831	0.42171	N	0.459975856206608	0.64773	4.739321	0.433699733967894	0.63678	4.606	0.999999989407597	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	2.671000	0.46507	4.722000	0.44510	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.0:1.0:0.0:0.0	16.529	0.84200	988	0.01987	tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.022727	0.02632	2435.33	33	chr13	110683120	.	C	T	2435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.458;DP=870;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=1.76;SOR=0.681	GT:AD:DP:GQ:PL	0/1:107,104:211:99:2449,0,2445	18	0	1	0
chr13	112547535	112547535	T	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1352.82	264	chr13	112547535	.	T	*	1352.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.645;DP=2091;ExcessHet=0.1504;FS=0.529;InbreedingCoeff=0.2083;MLEAC=5;MLEAF=0.132;MQ=59.9;MQRankSum=1.43;QD=1.19;ReadPosRankSum=-1.701;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,125:252:99:0|1:112547505_C_T:4741,0,4862:112547505	15	1	3	0
chr13	112547538	112547553	ATGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	18480.0	264	chr13	112547538	.	ATGGGAAAGTCGCGCG	*	18480.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.234;DP=2512;ExcessHet=0.3394;FS=2.695;InbreedingCoeff=0.1815;MLEAC=5;MLEAF=0.132;MQ=59.98;MQRankSum=0;QD=10.15;ReadPosRankSum=0.881;SOR=0.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,125:252:99:0|1:112547505_C_T:4741,0,4862:112547505	15	1	3	0
chr13	113044858	113044858	C	G	exonic	MCF2L	.	nonsynonymous SNV	MCF2L:NM_001366645:exon1:c.C134G:p.T45R,MCF2L:NM_001366646:exon1:c.C134G:p.T45R	.	429	1080	11	2	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00253447750239	.	0.00119808	0.0013	0	0.0006	0	0	0.0005	0	0.0066	0.0010414	161	154602	rs200111582	0.0006	0.0006	0.0004	0.0008	0.0068	0.0006	0.0005	0.0063	0.0061	2.987e-05	0.0006	0.0035	2.519e-05	0.0002	0.0033	7.645e-05	0.0008	0.0068	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	7.216e-05	0	0.0004	0.0029	0	9.42e-05	0	0.0001	0.0005	0.0054	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.36691	T	-1.27	0.36189	N	0.18	0.19459	-1.0190	0.24041	T	0.051	0.21533	T	8	0.0039972663	0.00077	T	0.002534	0.05065	T	0.025	0.05312	0.16	0.06396	0.179529687257	0.17594	.	.	.	.	.	.	.	.	.	.	-0.658608	0.00064	T	-0.715654	0.05008	T	0.00932054833725134	0.00119	T	0.39556	0.09932	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11510	B	.;.	.;.	-0.163453	0.03281	0.563	0.40551858735703439	0.02869	0.04407	0.09994	N	AEFDGBCI	0.107016	0.21334	N	-1.16372843866563	0.05558	0.253669	-1.27815412306527	0.04727	0.2236351	0.999999745764187	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.28	-0.89	0.10041	-2.486000	0.01054	-2.921000	0.03228	-0.929000	0.02155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2084:0.4165:0.0:0.3751	2.711	0.04855	994	0.00715	.;CRAL-TRIO lipid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3672.83	37	chr13	113044858	.	C	G	3672.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.05;DP=887;ExcessHet=0.119;FS=0.926;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.751;SOR=0.759	GT:AD:DP:GQ:PL	0/1:65,89:154:99:2075,0,1420	17	0	2	0
chr13	113795181	113795181	G	C	exonic	TMEM255B	.	nonsynonymous SNV	TMEM255B:NM_001348663:exon4:c.G286C:p.V96L,TMEM255B:NM_182614:exon4:c.G286C:p.V96L	.	436	1000	81	4	1	90	0.0426041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	.	0.0037	0.00898562	0.0094	0.0010	0.0027	0.0001	0.0009	0.0067	0.0167	0.0377	0.0083569	1292	154602	rs150323609	0.0062	0.0062	0.0050	0.0073	0.0363	0.0060	0.0060	0.0352	0.0348	0.0009	0.0025	0.0069	0.0001	0.0007	0.0278	0.0044	0.0073	0.0363	0.0049	0.0049	0.0043	0.0056	0.0354	0.0046	0.0045	0.0311	0.0294	0.0009	0.0208	0.0030	0.0066	0.0002	0.0018	0.0170	0.0061	0.0066	0.0354	0.006	0.61437	D	0.017	0.65728	D	0.975	0.58077	D	0.584	0.50293	P	.	.	.	.	0.999994	0.58761	D	2.87	0.83286	M	0.43	0.56772	T	-2.34	0.51811	N	0.502	0.53532	-0.5375	0.67258	T	0.182	0.52934	T	9	0.0077860355	0.00177	T	.	.	.	0.324	0.64624	0.553	0.66995	0.385578977469	0.38175	0.7663973015602885	0.76588	0.250000845388	0.27578	0.656492352486	0.60908	T	0.237301	0.60496	T	-0.212264	0.19062	T	-0.0512197	0.66939	D	0.0395209149209923	0.03604	T	0.838216	0.51127	T	0.31684133	0.54372	0.35385677	0.60940	0.31684133	0.54372	0.35385677	0.60939	-9.994	0.73876	D	.	.	0.384	0.61725	A	.;.	.;.	2.309652	0.29567	18.16	0.99604973238387107	0.74456	0.92132	0.55016	D	AEFGBI	0.571454	0.57543	D	0.357397953511674	0.59132	4.090088	0.278757387613594	0.54302	3.595487	0.999999996836986	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.06	4.06	0.46572	5.500000	0.66660	5.156000	0.47774	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:1.0:0.0	15.030	0.71357	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	0.022681	0.015152	0.014946	0.014620	0.000000	0.025862	0.021472	0.064394	0.05263	3265.83	34	chr13	113795181	.	G	C	3265.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.33;DP=963;ExcessHet=0.119;FS=4.73;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.283;SOR=0.957	GT:AD:DP:GQ:PL	0/1:82,68:150:99:1575,0,1849	17	0	2	0
chr13	114324909	114324909	C	T	exonic	CHAMP1	.	nonsynonymous SNV	CHAMP1:NM_001164144:exon3:c.C1067T:p.P356L,CHAMP1:NM_001164145:exon3:c.C1067T:p.P356L,CHAMP1:NM_032436:exon3:c.C1067T:p.P356L	Mental retardation, autosomal dominant 40, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0040245210283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	1.361e-06	6.875e-06	1.159e-05	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.70582	D	0.927	0.51527	P	0.521	0.48239	P	0.000014	0.62929	D	0.000000	0.999608	0.47795	D	2.005	0.54552	M	3.59	0.04544	T	-3.51	0.68298	D	0.298	0.33687	-1.1391	0.01392	T	0.027	0.11529	T	9	0.34985852	0.51870	T	0.004025	0.09556	T	0.119	0.33137	0.455	0.51938	0.179529687257	0.17594	0.2749438809689069	0.27407	0.511620293781	0.49235	0.714735984802	0.69279	T	0.611303	0.87685	D	-0.110887	0.34623	T	-0.397058	0.33727	T	0.969523787498474	0.68620	D	0.858514	0.54939	D	0.17547247	0.38407	0.22663392	0.47647	0.17547247	0.38407	0.22663392	0.47646	-6.622	0.51221	T	.	.	0.254	0.50545	B	.;.	.;.	4.212958	0.63657	24.6	0.99871338530620346	0.94902	0.42263	0.26839	N	AEFDGBHI	0.163407	0.28969	N	0.345047864916832	0.58478	4.020342	0.345815687534366	0.58255	3.995135	0.99999999859597	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	4.911000	0.63024	5.737000	0.49553	0.599000	0.40250	0.830000	0.30133	0.999000	0.35428	0.949000	0.49496	0.1382:0.8618:0.0:0.0	15.594	0.76307	946	0.12043	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	5235.33	37	chr13	114324909	.	C	T	5235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.434;DP=1110;ExcessHet=0;FS=2.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.635;SOR=0.67	GT:AD:DP:GQ:PL	0/1:171,201:372:99:5249,0,4338	18	0	1	0
chr14	20229914	20229914	C	T	exonic	OR11H7	.	unknown	UNKNOWN	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0045	0	0	0	0	0	0.0050	0.0093	0.0006727	104	154602	rs374080381	0.0012	0.0011	0.0005	0.0017	0.0101	0.0011	0.0011	0.0094	0.0092	0	0	0	0	0	0.0002	0	0.0006	0.0101	0.0003	0.0003	0.0002	0.0004	0.0091	0.0002	0.0002	0.0070	0.0062	4.815e-05	0	0	0	0	0	0	0	0	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3568.33	205	chr14	20229914	.	C	T	3568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.487;DP=2984;ExcessHet=0;FS=3.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=-0.403;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,95:209:99:0|1:20229909_G_T:3582,0,4433:20229909	18	0	1	0
chr14	21043302	21043302	G	A	exonic	RNASE7	.	nonsynonymous SNV	RNASE7:NM_032572:exon2:c.G310A:p.V104M	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00593914415387	0.0008	0.000199681	0.0009	0.0004	0	0.0002	0.0008	0.0015	0	6.056e-05	0.0008991	139	154602	rs202167148	0.0008	0.0008	0.0008	0.0008	0.0010	0.0008	0.0008	0.0010	0.0010	0.0001	6.708e-05	0	2.519e-05	0.0004	0.0005	0.0010	0.0004	0.0001	0.0006	0.0006	0.0007	0.0006	0.0011	0.0005	0.0005	0.0009	0.0009	0.0002	0	0.0001	0	0	0.0007	0	0.0011	0	0.0002	0.111	0.29029	T	0.058	0.46182	T	0.976	0.58310	D	0.66	0.52803	P	0.404697	0.13077	U	0.682102	0.999994	0.08975	N	1.115	0.28702	L	2.32	0.16640	T	-2.42	0.53096	N	0.237	0.26717	-1.0496	0.14509	T	0.035	0.14943	T	10	0.044852555	0.03488	T	0.005939	0.15490	T	0.140	0.37593	.	.	0.12205267543	0.11705	0.5422597793830704	0.54150	0.626887271601	0.56801	0.3420355618	0.16743	T	0.081838	0.36689	T	-0.505809	0.00530	T	-0.51835	0.20462	T	0.0489399816272107	0.05313	T	.	.	.	0.07620509	0.17219	0.1149799	0.27754	0.07620509	0.17219	0.1149799	0.27754	-5.624	0.43011	T	.	.	0.182	0.39511	B	.	.	2.020984	0.25683	16.85	0.99671631255187132	0.78652	0.04263	0.09796	N	AEFBI	0.051730	0.09168	N	-0.380209248180333	0.26176	1.426547	-0.51022907655124	0.21875	1.185469	0.99975808202731	0.42595	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.94	2.03	0.25714	0.679000	0.24971	2.043000	0.30309	0.676000	0.76740	0.024000	0.20007	0.971000	0.29754	0.044000	0.14658	0.1919:0.1736:0.6345:0.0	5.039	0.13789	958	0.09170	Ribonuclease A-domain|Ribonuclease A-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	.	.	.	.	.	.	.	.	0.02632	4323.33	281	chr14	21043302	.	G	A	4323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=4312;ExcessHet=0;FS=1.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.897;SOR=0.773	GT:AD:DP:GQ:PL	0/1:169,167:336:99:4337,0,4126	18	0	1	0
chr14	21569870	21569870	C	T	exonic	OR10G3	.	nonsynonymous SNV	OR10G3:NM_001005465:exon1:c.G875A:p.R292Q	.	430	1075	17	0	0	17	0.00784495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	.	0.0002	0.0189696	0.0076	0	0.0008	0.0269	0	0.0004	0.0044	0.0392	0.0068628	1061	154602	rs80295194	0.0036	0.0036	0.0026	0.0046	0.0386	0.0035	0.0035	0.0375	0.0371	0.0002	0.0004	0.0013	0.0360	5.616e-05	0.0033	0.0002	0.0043	0.0386	0.0028	0.0028	0.0017	0.0041	0.0487	0.0026	0.0025	0.0436	0.0416	9.627e-05	0	0.0003	0.0012	0.0314	0.0002	0	0.0002	0.0014	0.0487	0.001	0.78490	D	0.001	0.83351	D	0.993	0.65571	D	0.873	0.61978	P	0.001499	0.38855	N	0.000000	0.654061	0.32990	D	2.505	0.72935	M	1.01	0.41058	T	-3.59	0.69236	D	0.616	0.63204	-0.6105	0.64382	T	0.069	0.28247	T	10	0.006177366	0.00139	T	.	.	.	0.264	0.57741	.	.	0.597704877147	0.59451	0.45478495662110374	0.45396	0.269124446154	0.29430	0.221110790968	0.01375	T	0.009914	0.08996	T	-0.402472	0.02230	T	-0.32374	0.42162	T	0.0787024983272661	0.09820	T	0.948805	0.80311	D	0.81679505	0.85004	0.6693145	0.80601	0.81679505	0.85006	0.6693145	0.80601	-9.133	0.68549	D	.	.	0.243	0.49422	B	.;.;.	.;.;.	5.927558	0.94088	33	0.99938490617113651	0.99698	0.82675	0.41870	D	AEFBI	0.277651	0.39212	N	0.404861093063896	0.61688	4.373442	0.326886743542738	0.57124	3.877245	0.183700930105183	0.17906	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.81	4.81	0.61401	3.887000	0.55910	5.552000	0.48896	0.545000	0.25583	0.528000	0.27173	1.000000	0.68203	0.956000	0.50813	0.0:1.0:0.0:0.0	15.725	0.77514	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.018939	0.02632	1204.33	36	chr14	21569870	.	C	T	1204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=1151;ExcessHet=0;FS=2.829;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.187;SOR=1.033	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1218,0,995	18	0	1	0
chr14	23048314	23048314	G	C	exonic	CDH24	.	nonsynonymous SNV	CDH24:NM_144985:exon12:c.C2012G:p.A671G,CDH24:NM_022478:exon13:c.C2126G:p.A709G	.	415	1095	10	2	0	14	0.00635209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0583112313659	0.0002	0.000599042	0.0020	0.0001	0.0026	0	0.0005	0.0028	0.0037	0.0013	0.0016429	254	154602	rs150958098	0.0017	0.0017	0.0016	0.0018	0.0075	0.0016	0.0016	0.0056	0.0050	0.0011	0.0018	0.0044	0	0.0003	0.0075	0.0016	0.0022	0.0021	0.0014	0.0014	0.0014	0.0014	0.0022	0.0012	0.0012	0.0019	0.0018	0.0003	0.0077	0.0009	0.0040	0	0	0.0137	0.0022	0.0019	0.0017	0.403	0.11586	T	0.372	0.16376	T	0.014	0.21471	B	0.02	0.29179	B	0.283881	0.14894	N	0.638188	0.994851	0.23428	N	0.64	0.16041	N	-1.06	0.76819	T	-1.13	0.29114	N	0.126	0.15187	-0.8807	0.49706	T	0.260	0.63066	T	10	0.007851124	0.00178	T	0.058311	0.67275	D	0.170	0.43303	.	.	0.848968810855	0.84752	0.3658080582750518	0.36494	0.531012049618	0.50620	0.747675299644	0.74104	T	0.006708	0.06137	T	-0.410667	0.01967	T	-0.367908	0.37134	T	0.0124287114484385	0.00204	T	0.89741	0.68297	D	0.10995612	0.25994	0.074940205	0.16448	0.10995612	0.25994	0.074940205	0.16447	-5.173	0.39064	T	.	.	0.082	0.09143	B	.;.;.;.;.	.;.;.;.;.	2.861978	0.37822	20.6	0.97670027955406935	0.35247	0.53897	0.29483	D	AEFBI	0.104775	0.20953	N	-0.292451749646203	0.29438	1.632533	-0.159402145967213	0.33048	1.886398	0.99999576204799	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.723109	0.80598	0	0.669	0.65921	0	.	.	3.91	3.91	0.44383	3.577000	0.53631	11.296000	0.92177	0.564000	0.28548	0.943000	0.32764	1.000000	0.68203	0.288000	0.24212	0.1063:0.0:0.8937:0.0	8.775	0.33915	801	0.44448	.;Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.;Cadherin, cytoplasmic 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	0.009063	0.025253	0.009511	0.014620	0.000000	0.017241	0.006098	0.000000	0.02632	170.33	36	chr14	23048314	.	G	C	170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.155;DP=683;ExcessHet=0;FS=10.207;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.34;ReadPosRankSum=-1.378;SOR=1.273	GT:AD:DP:GQ:PL	0/1:39,12:51:99:184,0,1019	18	0	1	0
chr14	24300644	24300646	GAG	-	exonic	NOP9	.	nonframeshift deletion	NOP9:NM_001286367:exon2:c.484_486del:p.E169del,NOP9:NM_174913:exon2:c.484_486del:p.E169del	.	0	13	25	18	170	231	0.701149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs1197548443	0.0017	0.0051	0.0014	0.0021	0.0134	0.0017	0.0016	0.0109	0.0100	0.0005	0.0008	0.0037	0.0020	0.0004	0.0134	0.0010	0.0024	0.0108	0.0012	0.0012	0.0012	0.0013	0.0084	0.0011	0.0010	0.0064	0.0056	0.0005	0	0.0005	0.0020	0.0027	0.0005	0.0034	0.0012	0.0024	0.0084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	68267.3	123	chr14	24300643	.	AGAG	A	68267.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.301;DP=2765;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=34.74;ReadPosRankSum=0.594;SOR=0.708	GT:AD:DP:GQ:PL	0/1:1,68:128:99:5228,2412,2408	18	0	1	0
chr14	31302433	31302433	A	G	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon33:c.T5326C:p.S1776P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0307700860325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514	0.07401	T	0.334	0.18340	T	.	.	.	.	.	.	0.045816	0.23500	N	0.449329	0.998237	0.22276	N	.	.	.	-0.03	0.63077	T	-0.46	0.14978	N	0.133	0.12913	-1.0593	0.11931	T	0.085	0.33099	T	8	0.081183314	0.13261	T	0.03077	0.53006	D	0.031	0.07369	0.284	0.24121	0.137902524267	0.13322	0.5179160194395227	0.51714	.	.	0.472862482071	0.35074	T	0.003807	0.03212	T	-0.205835	0.19969	T	-0.533444	0.18944	T	0.120539486408234	0.14483	T	0.633837	0.24812	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01834	B	.	.	1.432664	0.18510	13.78	0.9474016847652017	0.25429	0.44033	0.27229	N	AEFBI	0.080441	0.16263	N	-0.322265552766998	0.28305	1.560063	-0.268591112312871	0.29140	1.630182	0.979472625926264	0.30032	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.89	3.73	0.41982	1.047000	0.29976	3.914000	0.40428	0.665000	0.62972	0.544000	0.27298	0.996000	0.32793	0.952000	0.50033	0.5993:0.0:0.2265:0.1741	3.151	0.06099	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	742.33	33	chr14	31302433	.	A	G	742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.658;DP=676;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.856;SOR=0.829	GT:AD:DP:GQ:PL	0/1:35,30:65:99:756,0,846	18	0	1	0
chr14	31304997	31304997	G	C	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon32:c.C5147G:p.T1716R	.	430	1085	6	1	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00589916954411	0.0047	0.00159744	0.0033	0.0013	0.0003	0	0.0100	0.0044	0.0011	0.0013	0.0032923	509	154602	rs188148087	0.0040	0.0040	0.0041	0.0039	0.0043	0.0040	0.0039	0.0042	0.0041	0.0005	0.0008	0.0059	0.0004	0.0108	0.0021	0.0043	0.0030	0.0016	0.0036	0.0036	0.0035	0.0037	0.0047	0.0034	0.0033	0.0043	0.0041	0.0010	0	0.0015	0.0061	0.0006	0.0114	0.0034	0.0047	0.0052	0.0015	0.701	0.04162	T	0.462	0.12526	T	.	.	.	.	.	.	0.885017	0.07260	N	1.054610	1	0.08975	N	.	.	.	1.03	0.40469	T	-1.65	0.39503	N	0.156	0.16168	-1.0536	0.13413	T	0.081	0.32031	T	10	0.0037204325	0.00069	T	0.005899	0.15371	T	0.085	0.24743	.	.	0.0138822411134	0.00435	0.1952025957408449	0.19437	.	.	0.243470609188	0.03112	T	0.023612	0.17990	T	-0.481033	0.00729	T	-0.460021	0.26596	T	0.0013493436489622	0.00013	T	0.156684	0.01385	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03625	B	.	.	1.124931	0.15109	11.60	0.66830198590513867	0.08174	0.17858	0.20017	N	AEFBI	0.128036	0.24565	N	-1.25496649400324	0.04234	0.1907119	-1.11217842244633	0.07467	0.363303	0.994318427334707	0.33582	0.706548	0.73137	0	0.588066	0.40923	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.92	2.12	0.26372	1.219000	0.32083	5.119000	0.47573	-0.800000	0.03169	0.097000	0.22731	0.993000	0.31925	0.913000	0.44837	0.0624:0.3571:0.5805:0.0	14.072	0.64392	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1910.33	33	chr14	31304997	.	G	C	1910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=777;ExcessHet=0;FS=3.866;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.562;SOR=1.022	GT:AD:DP:GQ:PL	0/1:72,75:147:99:1924,0,1689	18	0	1	0
chr14	44505984	44505984	G	A	exonic	FSCB	.	nonsynonymous SNV	FSCB:NM_032135:exon1:c.C1004T:p.P335L	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0250738286415	.	.	8.265e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs746197620	4.104e-06	4.104e-06	1.361e-06	6.875e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	3.311e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	0.06713	T	0.253	0.23501	T	0.184	0.29209	B	0.078	0.28627	B	.	.	.	.	1	0.08975	N	0.975	0.24501	L	0.75	0.50192	T	-1.78	0.42001	N	0.084	0.06059	-1.0248	0.22148	T	0.058	0.24317	T	9	0.05768037	0.06664	T	0.025074	0.48061	D	0.008	0.00669	0.315	0.29096	0.107399877778	0.10242	0.10186655906163951	0.10117	0.0753709897467	0.08448	0.311406731606	0.12120	T	0.003465	0.02869	T	-0.358402	0.04220	T	-0.655742	0.08556	T	0.081849959202242	0.10223	T	0.49515	0.15352	T	0.025676522	0.01533	0.034713566	0.02588	0.025676522	0.01533	0.034713566	0.02587	-6.682	0.51675	T	.	.	0.108	0.20508	B	.	.	1.915075	0.24320	16.35	0.69671526540086548	0.09047	0.07568	0.13580	N	AEFCI	0.045308	0.07395	N	-0.979408257546128	0.09044	0.4264354	-0.996637408366035	0.09860	0.4930753	1.90071970854781E-5	0.02871	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	4.73	0.491	0.16076	-0.282000	0.08478	-3.200000	0.02976	0.605000	0.46263	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2626:0.1451:0.5922:0.0	5.661	0.16945	948	0.11499	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1495.33	73	chr14	44505984	.	G	A	1495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.886;DP=1470;ExcessHet=0;FS=0.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.518;SOR=0.591	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1509,0,1982	18	0	1	0
chr14	49635130	49635130	G	A	exonic	DNAAF2	.	nonsynonymous SNV	DNAAF2:NM_001083908:exon1:c.C20T:p.S7F,DNAAF2:NM_018139:exon1:c.C20T:p.S7F	Ciliary dyskinesia, primary, 10	1	1508	12	1	0	14	0.00462046	.	.	.	213111	not_specified|Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_10	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012918,MedGen:C2675867,OMIM:612518,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0101136859413	.	0.000199681	0.0035	0	0	0	0	0.0003	0	0.0083	0.0006274	97	154602	rs577796590	0.0004	0.0004	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	8.074e-05	0	0	0	0.0027	2.118e-05	0.0004	0.0054	0.0002	0.0002	6.421e-05	0.0003	0.0046	0.0001	9.229e-05	0.0031	0.0026	2.404e-05	0	0	0	0	0	0	1.47e-05	0	0.0046	0.05	0.51248	D	0.009	0.66756	D	0.984	0.63424	D	0.819	0.64797	P	.	.	.	.	0.503356	0.31707	N	1.995	0.54099	M	2.13	0.19588	T	-2.59	0.55821	D	0.252	0.37509	-0.9685	0.37510	T	0.101	0.37366	T	9	0.009665161	0.00217	T	0.010114	0.26258	T	0.087	0.25287	0.236	0.16608	0.72927479191	0.72687	0.32184284644197647	0.32097	1.49514861928	0.86947	0.454433053732	0.32550	T	0.009171	0.08364	T	-0.424665	0.01598	T	-0.380721	0.35636	T	0.161524948219995	0.17983	T	0.788521	0.42806	T	0.25770622	0.48816	0.41075352	0.65327	0.2703388	0.50106	0.38223016	0.63215	-7.294	0.56622	T	0.6279663289246598	0.69704	0.181	0.40213	B	.;.	.;.	3.636900	0.51541	23.1	0.99738282586439153	0.83264	0.80795	0.40343	D	ALL	0.217682	0.34278	N	0.323490202971488	0.57354	3.902628	0.287540932565007	0.54810	3.645087	1.0	0.98316	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	5.28	5.28	0.74118	3.153000	0.50383	7.391000	0.58514	0.526000	0.24426	0.991000	0.37257	1.000000	0.68203	0.168000	0.20914	0.0:0.0:1.0:0.0	17.153	0.86663	840	0.37365	PIH1 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	0.003550	0.000000	0.005479	0.002941	0.000000	0.000000	0.003086	0.003846	0.05263	1597.83	40	chr14	49635130	.	G	A	1597.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.42;DP=775;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.141;SOR=0.698	GT:AD:DP:GQ:PL	0/1:24,26:50:99:741,0,623	17	0	2	0
chr14	55000983	55000983	T	C	exonic	WDHD1	.	nonsynonymous SNV	WDHD1:NM_001008396:exon8:c.A334G:p.I112V,WDHD1:NM_007086:exon9:c.A703G:p.I235V	.	475	1032	14	1	0	16	0.00769231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00516774101649	0.0032	0.00119808	0.0036	0.0009	0.0010	0	0.0005	0.0059	0.0022	0.0012	0.0037451	579	154602	rs139440460	0.0049	0.0049	0.0050	0.0048	0.0060	0.0048	0.0048	0.0059	0.0058	0.0007	0.0009	4.038e-05	0	0.0007	0.0013	0.0060	0.0039	0.0013	0.0030	0.0030	0.0035	0.0025	0.0053	0.0028	0.0027	0.0048	0.0047	0.0012	0	0.0018	0	0.0002	0.0005	0.0136	0.0053	0.0019	0.0014	0.703	0.04728	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.003298	0.35154	N	0.337163	0.835746	0.34987	D	-0.805	0.01590	N	5.06	0.60236	T	-0.14	0.09135	N	0.19	0.20793	-1.0220	0.23063	T	0.049	0.20750	T	10	0.0100622475	0.00225	T	0.005168	0.13156	T	0.140	0.37593	.	.	0.338592109245	0.33472	0.19875261694410665	0.19792	0.0358391572487	0.03777	0.255034387112	0.04317	T	0.001377	0.00840	T	-0.572901	0.00213	T	-0.591984	0.13495	T	0.0113591136742739	0.00169	T	0.769823	0.39947	T	0.024497904	0.01287	0.042299647	0.05007	0.024497904	0.01287	0.042299647	0.05006	-1.971	0.07964	T	.	.	0.055	0.00461	B	.;.	.;.	-0.027493	0.04097	0.963	0.82568697010288927	0.14260	0.44224	0.27271	N	AEFBI	0.068965	0.13629	N	-1.03150390713715	0.07955	0.3713534	-0.924305012228387	0.11521	0.5874422	0.16675878956412	0.17675	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.56	-6.18	0.01906	0.065000	0.14336	-1.103000	0.06322	0.605000	0.46263	0.936000	0.32490	0.003000	0.18671	0.996000	0.76049	0.0:0.7249:0.0:0.2751	17.591	0.87895	707	0.57054	Anaphase-promoting complex subunit 4, WD40 domain|WD40-repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	1372.83	35	chr14	55000983	.	T	C	1372.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.43;DP=688;ExcessHet=0.119;FS=8.529;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.61;SOR=0.242	GT:AD:DP:GQ:PL	0/1:18,25:43:99:701,0,431	17	0	2	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2170.86	43	chr14	58213644	.	T	C	2170.86	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.448;DP=1186;ExcessHet=25.4433;FS=260.724;InbreedingCoeff=-0.7123;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.37;SOR=11.67	GT:AD:DP:GQ:PL	0/1:33,23:56:99:187,0,614	3	0	16	0
chr14	67587182	67587182	C	T	exonic	PLEKHH1	.	stopgain	PLEKHH1:NM_020715:exon29:c.C4042T:p.R1348X	.	430	1052	37	3	0	43	0.0200279	.	.	.	702955	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.144	.	0.0086	0.00359425	0.0076	0.0013	0.0048	0.0001	0.0024	0.0115	0.0100	0.0033	0.0074255	1148	154602	rs111462449	0.0081	0.0081	0.0083	0.0080	0.0248	0.0080	0.0079	0.0215	0.0202	0.0012	0.0053	0.0403	2.519e-05	0.0019	0.0248	0.0085	0.0090	0.0034	0.0061	0.0061	0.0063	0.0058	0.0084	0.0058	0.0056	0.0079	0.0076	0.0013	0	0.0057	0.0423	0.0006	0.0020	0.0136	0.0084	0.0109	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.062110	0.22121	N	0.477844	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.029	0.00666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210287	0.74857	D	0.536677	0.95345	D	0.0940689564391577	0.11692	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.533679	0.96614	36	0.99597489037825016	0.73983	0.24847	0.22519	N	AEFGBI	0.615946	0.60269	D	0.519486289193855	0.68242	5.190	0.270601044546819	0.53831	3.550164	0.660484157857556	0.22265	0.706548	0.73137	0	0.550933	0.16991	0	0.724815	0.87919	0	0.528226	0.09195	0	.	.	5.07	3.11	0.34883	0.294000	0.18803	0.424000	0.18252	0.599000	0.40250	0.025000	0.20085	0.001000	0.17328	0.586000	0.31041	0.2081:0.7072:0.0:0.0846	8.376	0.31604	274	0.89249	.	.	.	.	.	.	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	0.019134	0.015152	0.019022	0.023392	0.050000	0.060345	0.024390	0.007576	0.05263	5190.83	34	chr14	67587182	.	C	T	5190.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.37;DP=2729;ExcessHet=0.119;FS=1.738;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.842;SOR=0.862	GT:AD:DP:GQ:PL	0/1:109,109:218:99:2764,0,2645	17	0	2	0
chr14	70978285	70978285	A	G	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon6:c.A1948G:p.K650E,PCNX1:NM_014982:exon6:c.A1948G:p.K650E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0220677842902	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs776201327	1.163e-05	1.163e-05	6.806e-06	1.65e-05	0.0002	7.08e-06	5.79e-06	9.791e-05	7.838e-05	0	0	0	0	0	0.0002	0	3.311e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.99	0.02759	T	0.026	0.19406	B	0.03	0.21741	B	0.032400	0.25036	N	0.458483	0.755844	0.33981	D	1.61	0.41143	L	5.72	0.00726	T	-0.5	0.15782	N	0.318	0.40665	-0.6095	0.64424	T	0.003	0.00832	T	10	0.07687625	0.12063	T	0.022068	0.44919	T	0.149	0.39377	0.278	0.23164	0.043077524339	0.03247	0.17080837872702376	0.17000	0.146305074043	0.16518	0.379832148552	0.22232	T	0.013051	0.11362	T	-0.342407	0.05223	T	-0.437472	0.29092	T	0.0889510386875502	0.11092	T	0.872113	0.57861	D	0.10765581	0.25456	0.12399012	0.29890	0.10765581	0.25456	0.12399012	0.29890	-4.111	0.27612	T	.	.	0.109	0.28406	B	.;.	.;.	2.724445	0.35642	19.95	0.90400382688311154	0.19661	0.99193	0.92604	D	AEFGBI	0.525755	0.54839	D	-0.313991374431796	0.28616	1.579841	-0.214293837723917	0.31022	1.751856	0.999999992891354	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	4.596000	0.60764	9.205000	0.79205	0.754000	0.88378	0.999000	0.42656	1.000000	0.68203	0.765000	0.36330	1.0:0.0:0.0:0.0	16.272	0.82453	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1417.33	33	chr14	70978285	.	A	G	1417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=903;ExcessHet=0;FS=6.019;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.372;SOR=0.336	GT:AD:DP:GQ:PL	0/1:60,50:110:99:1431,0,1573	18	0	1	0
chr14	75437912	75437912	C	A	exonic	JDP2	.	nonsynonymous SNV	JDP2:NM_001135049:exon2:c.C25A:p.P9T	.	421	1072	27	2	0	31	0.0142529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00958466	0.0091	0.0051	0.0035	0.0002	0.0125	0.0053	0.0047	0.0309	0.0047218	730	154602	rs201898432	0.0037	0.0038	0.0030	0.0044	0.0233	0.0036	0.0036	0.0224	0.0221	0.0045	0.0032	0.0025	0.0004	0.0084	0.0163	0.0020	0.0046	0.0233	0.0040	0.0040	0.0032	0.0047	0.0249	0.0037	0.0036	0.0213	0.0199	0.0033	0	0.0033	0.0035	0.0004	0.0093	0.0238	0.0024	0.0066	0.0249	0.012	0.54683	D	0.255	0.23365	T	.	.	.	.	.	.	.	.	.	.	0.961317	0.38228	D	.	.	.	0.38	0.57575	T	-1.27	0.31981	N	0.31	0.34981	-0.9281	0.44415	T	0.151	0.47979	T	6	0.004762739	0.00101	T	.	.	.	0.017	0.02790	.	.	0.287411543184	0.28351	0.2138663685806908	0.21302	0.52088637353	0.49874	0.456815749407	0.32874	T	.	.	.	-0.462336	0.00951	T	-0.41997	0.31078	T	0.00653995972438719	0.00073	T	0.577142	0.20757	T	.	.	.	.	.	.	.	.	-2.305	0.04582	T	.	.	0.072	0.04159	B	.	.	1.373561	0.17843	13.40	0.93609651566356189	0.23472	0.55884	0.29976	D	AEFDBI	0.149238	0.27330	N	-0.143449413581287	0.35515	2.040863	-0.164533032682119	0.32852	1.87325	0.999828912313114	0.43622	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.46	2.54	0.29674	0.672000	0.24868	0.902000	0.22558	0.599000	0.40250	0.251000	0.24859	0.511000	0.25257	0.745000	0.35611	0.0:0.4034:0.1787:0.4178	3.855	0.08479	274	0.89249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019289	0.000000	0.020380	0.041176	0.000000	0.025862	0.009259	0.011364	0.05263	1055.83	34	chr14	75437912	.	C	A	1055.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.256;DP=624;ExcessHet=0.119;FS=3.945;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.31;ReadPosRankSum=1.96;SOR=0.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,14:32:99:0|1:75437911_T_C:534,0,714:75437911	17	0	2	0
chr14	78243218	78243218	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon2:c.G125A:p.R42H,NRXN3:NM_001366425:exon2:c.G125A:p.R42H,NRXN3:NM_001366426:exon2:c.G125A:p.R42H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	.	.	0.000199681	0.0003	0	0	0	0	0.0003	0	0.0004	5.17e-05	8	154602	rs543377338	6.732e-05	6.567e-05	4.248e-05	9.274e-05	0.0023	5.613e-05	5.209e-05	0.0013	0.0011	9.345e-05	0	0	0	0	0.0023	3.866e-05	3.418e-05	0.0004	7.221e-05	7.218e-05	5.139e-05	9.397e-05	0.0010	3.968e-05	3.125e-05	0.0004	0.0003	0	0	0	0	0	0	0	7.35e-05	0.0005	0.0010	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.85343	-0.3801	0.72648	T	0.407	0.75670	T	4	0.36260733	0.52852	T	.	.	.	.	.	.	.	.	.	0.540260018613481	0.53951	.	.	.	.	.	0.080206	0.36309	T	.	.	.	.	.	.	.	.	.	0.968603	0.89491	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.54012	B	.;.	.;.	5.269065	0.88470	29.6	0.99895226352096445	0.96819	0.99276	0.93823	D	AEFBI	0.917590	0.88543	D	0.578539163703091	0.71835	5.711911	0.685377303386574	0.81268	7.487139	0.999999999999681	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.92	5.92	0.95557	10.003000	0.99689	11.883000	0.98886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.334	0.98733	555	0.71762	Laminin G domain;Laminin G 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	.	.	.	.	.	.	.	.	0.02632	1550.33	41	chr14	78243218	.	G	A	1550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.42;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.429;SOR=0.673	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1564,0,1618	18	0	1	0
chr14	80831291	80831291	A	G	exonic	CEP128	.	nonsynonymous SNV	CEP128:NM_152446:exon13:c.T1061C:p.V354A	.	429	1061	30	2	0	34	0.0157699	.	.	.	3409323	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.133	.	0.0080	0.00479233	0.0087	0.0019	0.0046	0.0005	0.0133	0.0108	0.0165	0.0093	0.0086868	1343	154602	rs116610923	0.0099	0.0099	0.0097	0.0101	0.0144	0.0098	0.0097	0.0119	0.0110	0.0014	0.0055	0.0427	0.0002	0.0136	0.0144	0.0097	0.0108	0.0098	0.0083	0.0084	0.0081	0.0086	0.0101	0.0080	0.0078	0.0095	0.0092	0.0019	0.0121	0.0064	0.0398	0.0010	0.0159	0.0034	0.0101	0.0161	0.0096	0.233	0.18122	T	0.694	0.15842	T	0.07	0.28604	B	0.033	0.28749	B	0.778391	0.06639	N	1.123640	1	0.08975	N	2.35	0.67516	M	-1.68	0.82897	D	-1.54	0.37759	N	0.136	0.13341	-0.8703	0.50506	T	0.221	0.58447	T	10	0.0028569698	0.00046	T	.	.	.	0.133	0.36157	.	.	0.431490205687	0.42766	0.1071860755672296	0.10648	0.0872170949531	0.09831	0.254053235054	0.04207	T	0.017587	0.14320	T	-0.385214	0.02887	T	-0.313785	0.43250	T	0.00628282384006659	0.00070	T	0.470053	0.13899	T	0.069137566	0.15121	0.040128335	0.04266	0.069137566	0.15121	0.040128335	0.04266	-2.893	0.09074	T	.	.	0.104	0.22464	B	.;.;.	.;.;.	0.471155	0.08407	5.163	0.92020508935990841	0.21358	0.00735	0.03077	N	AEFI	0.022660	0.01162	N	-0.868447548759972	0.11598	0.5606108	-0.862676048706051	0.12983	0.6709991	0.00159392376557499	0.08681	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.61	0.288	0.14969	0.795000	0.26632	1.054000	0.23662	-0.107000	0.15377	0.759000	0.29231	0.000000	0.08366	0.346000	0.25568	0.3749:0.0:0.4568:0.1684	4.797	0.12644	852	0.35056	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.005051	0.005435	0.005848	0.050000	0.017241	0.012195	0.011364	0.07895	5477.77	35	chr14	80831291	.	A	G	5477.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.23;DP=897;ExcessHet=0;FS=4.061;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.23;ReadPosRankSum=-0.77;SOR=0.987	GT:AD:DP:GQ:PL	1/1:0,104:104:99:3531,312,0	17	1	1	0
chr14	94284071	94284071	A	C	exonic	SERPINA10	.	nonsynonymous SNV	SERPINA10:NM_001100607:exon5:c.T1229G:p.M410R,SERPINA10:NM_016186:exon5:c.T1229G:p.M410R	.	424	1091	6	1	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	.	7.7e-05	0.0139776	0.0053	9.639e-05	0.0002	0.0262	0	7.499e-05	0.0033	0.0242	0.004793	741	154602	rs117152910	0.0023	0.0023	0.0018	0.0029	0.0274	0.0022	0.0022	0.0261	0.0255	8.961e-05	6.708e-05	0	0.0274	0	0.0010	6.925e-05	0.0033	0.0233	0.0018	0.0018	0.0013	0.0023	0.0292	0.0016	0.0016	0.0253	0.0238	0.0001	0	0.0001	0	0.0231	0	0	5.88e-05	0.0009	0.0292	0.006	0.61437	D	0.018	0.61642	D	0.946	0.53363	P	0.66	0.52803	P	0.000475	0.44119	D	0.158112	0.568655	0.31197	N	1.475	0.37068	L	-1.77	0.83660	D	-3.5	0.68178	D	0.276	0.33796	-0.2843	0.75423	T	0.302	0.67325	T	10	0.008633882	0.00196	T	.	.	.	0.443	0.74588	.	.	0.631807247623	0.62879	0.5072854969276409	0.50650	0.106591216844	0.12050	0.320922374725	0.13562	T	0.343787	0.71239	T	-0.292172	0.09419	T	-0.168087	0.57619	T	0.0840573494702751	0.10497	T	0.668433	0.27736	T	0.84306145	0.86828	0.65991807	0.80076	0.84306145	0.86829	0.65991807	0.80077	-5.663	0.43363	T	.	.	0.143	0.41372	B	.;.;.;.	.;.;.;.	1.589219	0.20330	14.70	0.64661919935627332	0.07556	0.85341	0.44464	D	AEFBI	0.589434	0.58631	D	-0.154314998402727	0.35050	2.008468	-0.197898483785191	0.31613	1.790772	0.617054183586573	0.21852	0.553676	0.25195	0	0.588015	0.36545	0	0.536957	0.11973	0	0.564101	0.26826	0	.	.	5.7	3.37	0.37692	1.871000	0.39176	4.640000	0.44151	-0.054000	0.16847	0.978000	0.35038	1.000000	0.68203	0.032000	0.13371	0.8623:0.0:0.1377:0.0	9.843	0.40181	923	0.18507	Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002020	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015267	0.02632	922.33	42	chr14	94284071	.	A	C	922.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.247;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.849;SOR=0.686	GT:AD:DP:GQ:PL	0/1:33,43:76:99:936,0,831	18	0	1	0
chr14	94364422	94364422	G	A	exonic	SERPINA2	.	unknown	UNKNOWN	.	422	1079	18	3	0	24	0.0109991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0201677	.	.	.	.	.	.	.	.	0.0062241	162	26028	rs117934891	0.0034	0.0016	0.0033	0.0035	0.0685	0.0032	0.0031	0.0609	0.0580	0.0007	0	0	0.0234	4.687e-05	0.0031	0.0001	0.0034	0.0685	0.0033	0.0033	0.0021	0.0046	0.0631	0.0031	0.0030	0.0573	0.0550	0.0003	0	0.0001	0.0003	0.0337	0	0	0.0001	0.0014	0.0631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1849.33	33	chr14	94364422	.	G	A	1849.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=784;ExcessHet=0;FS=2.019;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=0.007;SOR=0.534	GT:AD:DP:GQ:PL	0/1:82,74:156:99:1863,0,1885	18	0	1	0
chr14	94448375	94448375	C	T	exonic	SERPINA11	.	nonsynonymous SNV	SERPINA11:NM_001080451:exon2:c.G400A:p.E134K	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.0915152074683	.	.	0.0002	0	0	0	0	0	0	0.0017	0.0001811	28	154602	rs766702638	9.919e-05	9.919e-05	4.084e-05	0.0002	0.0016	8.578e-05	8.047e-05	0.0014	0.0013	0	0	0	0	0	0	3.597e-06	8.279e-05	0.0016	6.568e-05	6.562e-05	0	0.0001	0.0019	3.515e-05	2.615e-05	0.0010	0.0007	2.407e-05	0	0	0	0	0	0	0	0	0.0019	0.009	0.57480	D	0.028	0.54934	D	0.9	0.49598	P	0.564	0.49695	P	0.000284	0.46274	D	0.090604	0.791252	0.34389	D	1.855	0.49169	L	-1.82	0.84047	D	-2.5	0.54382	D	0.242	0.27316	0.475	0.90199	D	0.592	0.85430	D	10	0.17531481	0.32457	T	0.091515	0.75722	D	0.529	0.80128	0.63	0.76588	0.710509990972	0.70798	0.6122210136456354	0.61154	0.369069148346	0.38440	0.389128804207	0.23548	T	0.106571	0.41802	T	-0.203256	0.20336	T	-0.100118	0.63388	T	0.242952746539472	0.22554	T	0.818018	0.47523	T	0.3192664	0.54578	0.2716009	0.53063	0.3192664	0.54578	0.2716009	0.53062	-5.346	0.40396	T	.	.	0.252	0.48644	B	.	.	4.742442	0.76494	26.5	0.99916903009978641	0.98449	0.81714	0.41063	D	AEFDBI	0.493664	0.52978	N	0.360855176031116	0.59316	4.110	0.342241801886829	0.58043	3.972553	0.999888159771225	0.44867	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	2.231000	0.42654	3.951000	0.40674	0.599000	0.40250	0.990000	0.36992	0.999000	0.35428	0.001000	0.02609	0.0:0.7247:0.2753:0.0	14.810	0.69612	895	0.25842	Serpin domain|Serpin 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	.	.	.	.	.	.	.	.	0.02632	1246.33	71	chr14	94448375	.	C	T	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=914;ExcessHet=0;FS=1.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.06;SOR=0.874	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1260,0,1504	18	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	10250.8	91	chr14	94497802	.	C	T	10250.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.403;DP=2518;ExcessHet=31.086;FS=244.116;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.62;ReadPosRankSum=0.296;SOR=13.49	GT:AD:DP:GQ:PL	0/1:81,46:127:99:351,0,1403	1	0	17	1
chr14	96328684	96328684	C	G	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.G1964C:p.R655T	.	440	1074	8	0	0	8	0.00371058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	8.5e-05	0.0131789	0.0070	0	0.0005	0	0	1.505e-05	0.0022	0.0504	0.0061189	946	154602	rs199989694	0.0029	0.0030	0.0016	0.0042	0.0472	0.0028	0.0028	0.0459	0.0454	0.0001	9.195e-05	0	5.051e-05	0	0.0014	2.524e-05	0.0031	0.0472	0.0017	0.0017	0.0008	0.0025	0.0516	0.0015	0.0014	0.0464	0.0443	2.407e-05	0	6.543e-05	0	0	0	0	2.941e-05	0	0.0516	0.035	0.43708	D	0.132	0.34477	T	0.058	0.22967	B	0.033	0.22329	B	0.000346	0.45440	U	0.143817	0.990916	0.41265	D	1.05	0.26816	L	2.94	0.09728	T	-2.22	0.49846	N	0.305	0.34444	-1.0854	0.06335	T	0.030	0.12804	T	10	0.0022633672	0.00033	T	.	.	.	0.055	0.15663	.	.	0.295623431141	0.29171	0.354991172353778	0.35413	0.262681463261	0.28831	0.32231092453	0.13770	T	0.003268	0.02677	T	-0.559205	0.00257	T	-0.53953	0.18342	T	0.0334479469417272	0.02546	T	0.859214	0.55036	D	0.09358739	0.21984	0.096903406	0.23044	0.09358739	0.21983	0.096903406	0.23044	-4.542	0.31434	T	.	.	0.108	0.20430	B	.	.	2.478948	0.31965	18.90	0.97097530846531355	0.32353	0.90345	0.51447	D	AEFBI	0.307555	0.41440	N	-0.215588331932025	0.32495	1.833115	-0.116410483050946	0.34728	2.000938	0.180204542403627	0.17861	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	1.53	0.22224	0.936000	0.28536	2.189000	0.31192	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.6299:0.0:0.3701	9.276	0.36859	966	0.07191	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.015152	0.02632	683.33	32	chr14	96328684	.	C	G	683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.638;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.567;SOR=0.693	GT:AD:DP:GQ:PL	0/1:23,33:56:99:697,0,598	18	0	1	0
chr14	96328709	96328709	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1939G:p.L647V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	295.95	35	chr14	96328709	.	G	C	295.95	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-1.009;DP=859;ExcessHet=0.7564;FS=144.371;InbreedingCoeff=-0.2105;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.291;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,13:40:99:0|1:96328709_G_C:159,0,810:96328709	10	0	4	5
chr14	96328715	96328715	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1933G:p.L645V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	201.76	34	chr14	96328715	.	G	C	201.76	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.308;DP=809;ExcessHet=0.3672;FS=161.501;InbreedingCoeff=-0.1149;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=0.208;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,13:40:99:0|1:96328709_G_C:159,0,810:96328709	14	0	3	2
chr14	104175415	104175415	G	A	exonic	KIF26A	.	nonsynonymous SNV	KIF26A:NM_015656:exon12:c.G2627A:p.R876Q	.	417	1090	15	0	0	15	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0018	0.00199681	0.0036	0.0004	0.0016	0	0.0116	0.0041	0.0054	0.0040	0.0024644	381	154602	rs138557973	0.0025	0.0025	0.0024	0.0025	0.0039	0.0024	0.0024	0.0035	0.0034	0.0003	0.0012	0.0071	0.0002	0.0101	0.0037	0.0022	0.0022	0.0039	0.0026	0.0026	0.0021	0.0031	0.0027	0.0024	0.0023	0.0021	0.0020	0.0004	0	0.0024	0.0075	0.0002	0.0118	0	0.0024	0.0038	0.0027	0.076	0.34269	T	0.317	0.19304	T	0.27	0.31762	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	-1.2	0.78537	T	-1.23	0.31170	N	0.162	0.17691	-0.8617	0.51140	T	0.190	0.54108	T	9	0.007402867	0.00168	T	.	.	.	0.086	0.25016	.	.	0.900429547486	0.89943	0.1674360589524765	0.16663	0.160506886799	0.18112	0.576956987381	0.49656	T	0.010119	0.09163	T	-0.395158	0.02490	T	-0.342183	0.40098	T	0.0111673446678968	0.00163	T	0.818018	0.47523	T	0.10000399	0.23607	0.070173934	0.14876	0.10000399	0.23606	0.070173934	0.14876	-4.423	0.29867	T	.	.	0.089	0.12181	B	.;.	.;.	2.399434	0.30823	18.56	0.9950725035089415	0.68381	0.10959	0.16311	N	AEFBI	0.052566	0.09393	N	-0.585910117310267	0.19372	1.013331	-0.608509071694544	0.19275	1.033391	0.831840926990104	0.24707	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.9	1.99	0.25423	1.014000	0.29553	3.128000	0.36429	0.672000	0.70159	0.529000	0.27181	1.000000	0.68203	0.006000	0.07323	0.3946:0.0:0.6054:0.0	5.902	0.18217	557	0.71576	.;.	.	.	.	.	.	Likely benign	0	0	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	0.004044	0.005102	0.002740	0.011765	0.000000	0.008772	0.000000	0.007634	0.02632	2080.33	35	chr14	104175415	.	G	A	2080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.02;DP=1231;ExcessHet=0;FS=0.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-0.511;SOR=0.639	GT:AD:DP:GQ:PL	0/1:70,78:148:99:2094,0,1610	18	0	1	0
chr14	104945711	104945711	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A9440G:p.D3147G,AHNAK2:NM_138420:exon7:c.A9740G:p.D3247G	.	437	1064	20	1	0	22	0.0102326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00160606406043	.	0.000599042	0.0006	0	0.0009	0	0	0.0004	0.0011	0.0018	0.0005045	78	154602	rs200045846	0.0003	0.0004	0.0002	0.0004	0.0049	0.0003	0.0003	0.0035	0.0030	2.988e-05	0.0005	0	0	0	0.0049	0.0002	0.0007	0.0016	0.0002	0.0003	0.0003	0.0002	0.0012	0.0002	0.0001	0.0005	0.0003	0	0	0.0002	0	0	0	0	0.0004	0.0005	0.0012	0.022	0.48642	D	0.061	0.45530	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.795	0.81503	M	4.56	0.01933	T	-3.73	0.70920	D	0.205	0.22742	-1.1040	0.03640	T	0.036	0.15553	T	9	0.017894953	0.00385	T	0.001606	0.02574	T	0.069	0.20116	.	.	0.107399877778	0.10242	0.019300944833428736	0.01884	.	.	0.214619427919	0.01022	T	0.111464	0.42697	T	-0.454045	0.01069	T	-0.432244	0.29680	T	0.155301952476957	0.17518	T	0.668433	0.27736	T	0.11593374	0.27352	0.11815223	0.28522	0.11593374	0.27352	0.11815223	0.28522	-8.936	0.67284	D	.	.	0.179	0.39047	B	.	.	2.686068	0.35051	19.79	0.98138199759592337	0.38580	0.15688	0.19033	N	AEFBI	.	.	.	-0.0467745553855719	0.39747	2.348942	-0.350656538561117	0.26488	1.463424	2.72927506228462E-4	0.06300	0.732398	0.92422	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	2.95	2.95	0.33285	4.109000	0.57562	-2.102000	0.04210	0.603000	0.45986	0.248000	0.24829	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.1821:0.8179	9.203	0.36433	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003755	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.007692	0.02632	1757.33	73	chr14	104945711	.	T	C	1757.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.905;DP=2764;ExcessHet=0;FS=10.892;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.58;MQRankSum=-14.13;QD=8.1;ReadPosRankSum=2.25;SOR=1.429	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,55:217:99:0|1:104945711_T_C:1771,0,6290:104945711	18	0	1	0
chr14	104946203	104946204	AC	-	exonic	AHNAK2	.	frameshift deletion	AHNAK2:NM_001350929:exon7:c.8947_8948del:p.V2983Qfs*80,AHNAK2:NM_138420:exon7:c.9247_9248del:p.V3083Qfs*80	.	429	1073	19	1	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0007	3.84e-05	1	26028	rs757107721	0.0003	0.0004	0.0002	0.0004	0.0059	0.0003	0.0003	0.0043	0.0038	3.003e-05	0.0005	0	0	0	0.0059	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	0	0	0.0005	0	0	9.656e-05	0	0.0004	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3357.29	89	chr14	104946202	.	GAC	G	3357.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.57;DP=3187;ExcessHet=0;FS=13.044;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.91;MQRankSum=-15.27;QD=10.73;ReadPosRankSum=-0.998;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,96:313:99:0|1:104946202_GAC_G:3371,0,8823:104946202	18	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	102788.0	182	chr14	104946204	.	C	*	102788.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.816;DP=4626;ExcessHet=4.0818;FS=6.012;InbreedingCoeff=-0.2179;MLEAC=1;MLEAF=0.026;MQ=51.53;MQRankSum=-14.93;QD=22.95;ReadPosRankSum=-1.329;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,96:313:99:0|1:104946202_GAC_G:3371,0,8823:104946202	18	0	1	0
chr14	104946206	104946206	-	GC	exonic	AHNAK2	.	frameshift insertion	AHNAK2:NM_001350929:exon7:c.8944_8945insGC:p.D2982Gfs*10,AHNAK2:NM_138420:exon7:c.9244_9245insGC:p.D3082Gfs*10	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0008	3.84e-05	1	26028	rs745545429	0.0003	0.0004	0.0002	0.0004	0.0060	0.0003	0.0003	0.0044	0.0038	3.011e-05	0.0005	0	0	0	0.0060	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0003	0	0	0.0006	0	0	9.779e-05	0	0.0004	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3438.29	168	chr14	104946206	.	T	TGC	3438.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=4205;ExcessHet=0;FS=15.398;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.75;MQRankSum=-15.38;QD=10.88;ReadPosRankSum=-1.255;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,98:316:99:0|1:104946202_GAC_G:3452,0,8859:104946202	18	0	1	0
chr14	104994748	104994748	G	A	exonic	CLBA1	.	nonsynonymous SNV	CLBA1:NM_174891:exon5:c.G967A:p.D323N	.	411	1096	14	1	0	16	0.00724638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00317260751494	8.3e-05	0.000599042	0.0005	0	0.0006	0	0	0.0004	0	0.0016	0.0004722	73	154602	rs200272722	0.0003	0.0003	0.0002	0.0004	0.0062	0.0003	0.0003	0.0046	0.0040	3.085e-05	0.0005	0	0	0	0.0062	0.0002	0.0007	0.0018	0.0003	0.0003	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	2.406e-05	0	0.0004	0	0	9.416e-05	0	0.0003	0.0009	0.0025	0.507	0.08762	T	0.412	0.14456	T	0.606	0.39465	P	0.031	0.21939	B	0.936976	0.08380	N	0.959023	1	0.08975	N	.	.	.	.	.	.	-1.65	0.47008	N	0.059	0.04188	-1.0289	0.20811	T	0.030	0.12804	T	9	0.006056577	0.00136	T	0.003173	0.06936	T	0.051	0.14325	.	.	0.0297737177859	0.01360	0.24883442652854282	0.24797	0.117908866914	0.13276	.	.	.	0.072555	0.34482	T	-0.591096	0.00165	T	-0.646472	0.09203	T	0.014728854302732	0.00307	T	0.536546	0.19140	T	0.059315845	0.12040	0.034095634	0.02415	0.059315845	0.12039	0.034095634	0.02415	-3.299	0.13724	T	.	.	0.145	0.31980	B	.;.;.	.;.;.	0.204959	0.05893	2.333	0.85221806567649572	0.15760	0.05460	0.11339	N	AEFBCI	0.025915	0.01855	N	-0.998479758405893	0.08637	0.4056948	-1.09236291925277	0.07850	0.3835069	0.999396745369358	0.39470	0.651	0.46895	0	0.588066	0.40923	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	3.67	-0.564	0.11185	-0.027000	0.12319	0.989000	0.23179	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.4312:0.0:0.5688:0.0	7.000	0.23982	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1114.33	40	chr14	104994748	.	G	A	1114.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.86;SOR=0.682	GT:AD:DP:GQ:PL	0/1:57,42:99:99:1128,0,1350	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.9062	36371.9	254	chr15	22081297	.	T	C	36371.9	.	AC=29;AF=0.906;AN=32;BaseQRankSum=7.18;DP=2254;ExcessHet=0.0128;FS=82.112;InbreedingCoeff=0.2;MLEAC=32;MLEAF=1;MQ=39;MQRankSum=-9.429;QD=21.37;ReadPosRankSum=-0.973;SOR=4.312	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1071,105,0	0	13	3	3
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2863.0	45	chr15	23361381	.	G	*	2863.0	.	AC=7;AF=0.184;AN=38;BaseQRankSum=1;DP=1640;ExcessHet=6.9875;FS=2.005;InbreedingCoeff=-0.3583;MLEAC=7;MLEAF=0.184;MQ=57.9;MQRankSum=0.431;QD=2.66;ReadPosRankSum=0.105;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,17:116:99:.:.:399,0,3982:.	12	0	7	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	748.69	45	chr15	23361385	.	C	*	748.69	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.781;DP=1415;ExcessHet=5.3738;FS=2.904;InbreedingCoeff=-0.3103;MLEAC=7;MLEAF=0.184;MQ=56.95;MQRankSum=-1.859;QD=0.78;ReadPosRankSum=2.42;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,17:116:99:.:.:399,0,3982:.	12	0	7	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	44113.5	193	chr15	23440492	.	C	*	44113.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.78;DP=2930;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=19;MLEAF=0.5;MQ=58;MQRankSum=-0.314;QD=15.57;ReadPosRankSum=-0.294;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,97:189:99:.:.:7095,3226,3618:.	0	0	19	0
chr15	23646824	23646824	G	A	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.C919T:p.P307S	Schaaf-Yang syndrome, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	429618	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0008	0	0	0	0	0.0020	0	0.0004	0.0002005	31	154602	rs555920534	0.0011	0.0010	0.0011	0.0010	0.0018	0.0010	0.0010	0.0012	0.0011	0.0002	0.0002	0.0009	0	0.0004	0.0018	0.0012	0.0010	0.0003	0.0006	0.0006	0.0008	0.0004	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0	0.0003	0.0003	0	9.407e-05	0.0034	0.0011	0	0.0006	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.36043	.	.	.	.	.	.	.	0.020911455	0.00490	T	.	.	.	.	.	.	.	0.189391138174	0.18552	0.27398347525440125	0.27311	.	.	0.569063305855	0.48545	T	0.135	0.46609	T	-0.261197	0.12760	T	-0.198408	0.54798	T	.	.	.	0.582642	0.21138	T	0.036905363	0.04628	0.10031832	0.23981	0.036905363	0.04628	0.10031832	0.23980	-5.874	0.45212	T	.	.	0.134	0.29032	B	.;.	.;.	2.170948	0.27664	17.54	0.90032395018100519	0.19320	0.10603	0.16063	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.99267087112918	0.32927	0.162408	0.03677	1	0.063388	0.01293	0	0.132232	0.03703	1	0.062806	0.01542	0	0.123528	0.25025	3.29	0.18	0.14352	0.945000	0.28654	3.550000	0.39044	-0.255000	0.07062	0.007000	0.17678	1.000000	0.68203	0.019000	0.11356	0.1066:0.3463:0.5471:0.0	6.632	0.22056	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002801	0.000000	0.000000	0.000000	0.000000	0.000000	0.007246	0.000000	0.02632	2100.33	37	chr15	23646824	.	G	A	2100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.442;DP=860;ExcessHet=0;FS=1.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.282;SOR=0.53	GT:AD:DP:GQ:PL	0/1:87,85:172:99:2114,0,2227	18	0	1	0
chr15	28527435	28527435	C	A	exonic	GOLGA8F;GOLGA8G	.	nonsynonymous SNV	GOLGA8G:NM_001368078:exon8:c.G27T:p.M9I,GOLGA8G:NM_001368080:exon8:c.G27T:p.M9I,GOLGA8G:NM_001350919:exon9:c.G681T:p.M227I,GOLGA8F:NM_001350920:exon9:c.G645T:p.M215I	.	454	1044	21	3	0	27	0.012766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000523040748597	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268493071	0.0027	0.0030	0.0028	0.0027	0.0183	0.0026	0.0026	0.0141	0.0127	0.0022	0.0049	0.0018	0	0.0004	0.0183	0.0033	0.0038	0.0011	0.0024	0.0027	0.0024	0.0024	0.0033	0.0021	0.0021	0.0025	0.0023	0.0019	0	0.0033	0.0012	0	0.0005	0.0079	0.0028	0.0064	0.0010	0.931	0.02245	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.81	0.10975	T	0.49	0.02993	N	0.06	0.03175	.	.	.	.	.	.	.	0.008204997	0.00186	T	5.23E-4	0.00174	T	.	.	.	.	0.0138822411134	0.00435	0.22901428615377845	0.22816	1.25351651058	0.81861	.	.	.	.	.	.	-0.693542	0.00040	T	-0.769521	0.02784	T	.	.	.	0.333767	0.07077	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40666	B	.	.	-0.934766	0.00869	0.031	0.40862136682954447	0.02911	0.01035	0.03875	N	AEFI	0.042647	0.06644	N	.	.	.	.	.	.	3.77405762741583E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.637	-1.27	0.08863	-0.186000	0.09666	-0.795000	0.07398	-1.187000	0.01379	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.77:0.0:0.23	7.355	0.25886	410	0.82135	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	756.33	33	chr15	28527435	.	C	A	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.785;DP=704;ExcessHet=0;FS=0.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=24.22;MQRankSum=0.499;QD=10.96;ReadPosRankSum=0.646;SOR=0.92	GT:AD:DP:GQ:PL	0/1:31,38:69:99:770,0,565	18	0	1	0
chr15	28843098	28843098	-	CCCCATCTGCTCCTCCTGCTT	exonic	GOLGA6L7	.	nonframeshift insertion	GOLGA6L7:NM_001365371:exon9:c.1005_1006insAAGCAGGAGGAGCAGATGGGG:p.E336_I617delinsKQEEQMGEQEEQMRKQEKQMLKQKEQMRKQEEQMWKQEEQIGEQEEQMRKQEEQMWKQEEQIGEQEEQMRKQEEQMWKQEEQMGEQMRKQEEQMGEQEEQIRKQEEQMGEQEEQMRKQEEQMGEQEEQMRKQEEQMGEQEEQMRKQEEQMGEQEEQMGEQEEQMRKQVERLQFKEERLWDEYEKMQEEEEKIRRQVEKRREKKERMGEQEKTQEERCSEPCLPPSKYPSDMSHPGSLEPAREAGKGYSHDNRTAQIMQLPPGMKNAQERPGLGSTSCIPFFYGGDKKKIKIISI*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.941e-05	5.914e-05	3.266e-05	4.675e-05	0.0004	2.987e-05	2.66e-05	0.0002	0.0001	0	0	0	7.226e-05	0	0.0003	2.661e-05	0.0001	0.0004	0.0002	0.0002	0.0002	0.0002	0.0052	0.0001	0.0001	0.0035	0.0030	0	0	0	0	0.0004	0	0.0040	4.735e-05	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	45.77	8	chr15	28843098	.	C	CCCCCATCTGCTCCTCCTGCTT	45.77	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.728;DP=200;ExcessHet=0;FS=7.549;InbreedingCoeff=0.2558;MLEAC=1;MLEAF=0.028;MQ=51.48;MQRankSum=1.73;QD=4.58;ReadPosRankSum=-1.47;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,3:10:59:0|1:28843098_C_CCCCCATCTGCTCCTCCTGCTT:59,0,232:28843098	17	0	1	1
chr15	28843134	28843134	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G970A:p.E324K	.	524	965	30	3	0	36	0.0183113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1204083828	0.0003	0.0018	0.0002	0.0003	0.0013	0.0002	0.0002	0.0009	0.0008	0.0003	0.0010	0.0004	0.0013	0.0001	0.0003	0.0002	0.0004	0.0009	0.0009	0.0085	0.0007	0.0011	0.0017	0.0008	0.0007	0.0013	0.0012	0.0017	0	0.0012	0.0006	0.0011	0.0009	0	0.0005	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054320782	0.05765	T	.	.	.	.	.	.	.	.	.	0.0796059710434255	0.07895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552145	0.19060	T	0.026396565	0.01691	0.06522381	0.13188	0.026396565	0.01691	0.06522381	0.13188	-7.191	0.55416	T	.	.	0.093	0.13969	B	.	.	0.927256	0.13022	9.528	0.40818859624842702	0.02905	0.00385	0.01942	N	AEFCI	.	.	.	.	.	.	.	.	.	2.69831305298825E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-2.618000	0.00953	-2.469000	0.03716	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:0.3485:0.6514:0.0	5.585	0.16554	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	378.55	10	chr15	28843134	.	C	T	378.55	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.242;DP=199;ExcessHet=1.3;FS=8.177;InbreedingCoeff=-0.1891;MLEAC=4;MLEAF=0.111;MQ=54.14;MQRankSum=-0.854;QD=8.23;ReadPosRankSum=1.97;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,5:14:99:1|0:28843098_C_CCCCCATCTGCTCCTCCTGCTT:141,0,362:28843098	14	0	4	1
chr15	28843135	28843135	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G969T:p.Q323H	.	518	971	30	3	0	36	0.0182002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1233704262	0.0003	0.0018	0.0002	0.0004	0.0013	0.0003	0.0002	0.0009	0.0008	0.0004	0.0010	0.0005	0.0013	0.0002	0.0003	0.0002	0.0005	0.0008	0.0008	0.0084	0.0006	0.0010	0.0014	0.0007	0.0006	0.0011	0.0010	0.0014	0	0.0011	0.0003	0.0010	0.0009	0	0.0004	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09346208	0.16541	T	.	.	.	.	.	.	.	.	.	0.04198620401242224	0.04143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467153	0.13745	T	0.03609981	0.04375	0.057831366	0.10583	0.03609981	0.04374	0.057831366	0.10582	-9.024	0.67852	D	.	.	0.328	0.55089	B	.	.	1.202482	0.15947	12.21	0.53190382402369574	0.04891	0.05610	0.11516	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	0.047000	0.13941	0.456000	0.18569	0.356000	0.20028	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	378.71	10	chr15	28843135	.	C	A	378.71	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.242;DP=199;ExcessHet=1.3;FS=8.177;InbreedingCoeff=-0.1909;MLEAC=4;MLEAF=0.111;MQ=54.14;MQRankSum=-0.854;QD=8.23;ReadPosRankSum=1.97;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,5:14:99:1|0:28843098_C_CCCCCATCTGCTCCTCCTGCTT:141,0,362:28843098	14	0	4	1
chr15	28843142	28843142	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G962T:p.R321L	.	544	955	21	2	0	25	0.0129199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191857706	0.0001	0.0011	0.0001	0.0001	0.0010	9.584e-05	8.968e-05	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	7.934e-05	0.0010	6.784e-05	9.229e-05	0.0006	0.0007	0.0077	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0007	0.0011	0	0.0012	0.0003	0.0006	0.0009	0	0.0004	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076286405	0.11898	T	.	.	.	.	.	.	.	.	.	0.030957340557654735	0.03044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668433	0.27736	T	0.075750865	0.17086	0.09239469	0.21771	0.075750865	0.17086	0.09239469	0.21771	-8.631	0.65293	D	.	.	0.105	0.19276	B	.	.	0.254151	0.06330	2.792	0.30357631313706235	0.01656	0.00529	0.02453	N	AEFCI	.	.	.	.	.	.	.	.	.	2.82397054557777E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.905000	0.04184	-6.198000	0.01467	-0.833000	0.02857	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3272:0.3435:0.3293:0.0	2.202	0.03687	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	387.69	11	chr15	28843142	.	C	A	387.69	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.842;DP=199;ExcessHet=1.3;FS=8.536;InbreedingCoeff=-0.1907;MLEAC=4;MLEAF=0.111;MQ=54.2;MQRankSum=-0.637;QD=8.81;ReadPosRankSum=1.46;SOR=1.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,5:13:99:1|0:28843098_C_CCCCCATCTGCTCCTCCTGCTT:144,0,320:28843098	14	0	4	1
chr15	28843145	28843145	A	G	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.T959C:p.M320T	.	552	948	20	2	0	24	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394968721	9.032e-05	0.0009	8.61e-05	9.487e-05	0.0005	7.569e-05	6.959e-05	0.0003	0.0003	0.0002	0.0004	0.0003	0.0004	3.904e-05	0.0003	5.774e-05	6.833e-05	0.0005	0.0006	0.0071	0.0004	0.0007	0.0009	0.0005	0.0004	0.0006	0.0005	0.0009	0	0.0009	0.0003	0.0006	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06346178	0.08270	T	.	.	.	.	.	.	.	.	.	0.027028037523204537	0.02652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80032	0.44603	T	0.06259258	0.13090	0.20706734	0.44950	0.06259258	0.13089	0.20706734	0.44949	-8.92	0.67181	D	.	.	0.373	0.57993	A	.	.	1.332190	0.17377	13.13	0.13608050232526028	0.00274	0.00806	0.03275	N	AEFCI	.	.	.	.	.	.	.	.	.	2.99479300498238E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.140000	0.00647	-2.879000	0.03269	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3434:0.327:0.0:0.3296	1.454	0.02237	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	355.97	11	chr15	28843145	.	A	G	355.97	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.521;DP=208;ExcessHet=0.3672;FS=1.374;InbreedingCoeff=-0.1207;MLEAC=3;MLEAF=0.083;MQ=54.36;MQRankSum=-2;QD=9.89;ReadPosRankSum=0.932;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,4:11:99:1|0:28843098_C_CCCCCATCTGCTCCTCCTGCTT:140,0,282:28843098	15	0	3	1
chr15	28843152	28843152	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G952A:p.E318K	.	596	905	19	2	0	23	0.0125477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175861085	8.072e-05	0.0008	7.323e-05	8.88e-05	0.0005	6.676e-05	6.15e-05	0.0003	0.0002	0.0005	0.0004	0.0002	0.0005	3.946e-05	0	4.87e-05	2.315e-05	0.0004	0.0005	0.0063	0.0004	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0008	0	0.0008	0	0.0004	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084602505	0.14197	T	.	.	.	.	.	.	.	.	.	0.03870546161705601	0.03816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807219	0.45710	T	0.022809826	0.00971	0.063979626	0.12754	0.022809826	0.00970	0.063979626	0.12754	-7.409	0.56968	T	.	.	0.076	0.05756	B	.	.	0.240593	0.06208	2.659	0.69185045974801285	0.08892	0.00371	0.01888	N	AEFCI	.	.	.	.	.	.	.	.	.	1.10080633485978E-4	0.05123	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.998000	0.03812	-7.625000	0.01118	-2.765000	0.00194	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2626:0.7373:0.0	7.994	0.29417	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	333.12	12	chr15	28843152	.	C	T	333.12	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.242;DP=208;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.1245;MLEAC=3;MLEAF=0.083;MQ=53.84;MQRankSum=-1.559;QD=10.75;ReadPosRankSum=-0.241;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,3:9:99:1|0:28843098_C_CCCCCATCTGCTCCTCCTGCTT:108,0,243:28843098	15	0	3	1
chr15	28843155	28843155	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G949A:p.E317K	.	579	922	19	2	0	23	0.0123192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394768048	6.115e-05	0.0006	5.529e-05	6.746e-05	0.0004	4.9e-05	4.459e-05	0.0002	0.0002	0.0002	0.0003	0.0001	0.0004	3.914e-05	0	3.656e-05	2.32e-05	0.0004	0.0004	0.0056	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0007	0	0.0004	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0684565	0.09684	T	.	.	.	.	.	.	.	.	.	0.08560220995357702	0.08494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810419	0.46176	T	0.02553128	0.01501	0.06522381	0.13188	0.02553128	0.01501	0.06522381	0.13188	-6.82	0.52708	T	.	.	0.104	0.18910	B	.	.	1.353607	0.17613	13.27	0.35185701157618721	0.02194	0.00170	0.01006	N	AEFCI	.	.	.	.	.	.	.	.	.	2.25599673312757E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.903000	0.00381	-5.980000	0.01533	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6504:0.3496:1.0E-4	5.503	0.16129	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	333.28	12	chr15	28843155	.	C	T	333.28	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.21;DP=204;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.124;MLEAC=3;MLEAF=0.083;MQ=53.84;MQRankSum=-1.559;QD=10.75;ReadPosRankSum=-1.016;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,3:9:99:1|0:28843098_C_CCCCCATCTGCTCCTCCTGCTT:108,0,243:28843098	15	0	3	1
chr15	28843163	28843163	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G941T:p.R314L	.	591	916	13	2	0	17	0.00919416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327731859	3.966e-05	0.0004	3.146e-05	4.845e-05	0.0002	2.969e-05	2.606e-05	0.0001	7.171e-05	0	0.0002	0	0.0002	3.955e-05	0	2.931e-05	0	0.0002	0.0004	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0004	0	0	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10313755	0.18943	T	.	.	.	.	.	.	.	.	.	0.02523710072021684	0.02474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585041	0.21304	T	0.082116276	0.18901	0.11121759	0.26827	0.082116276	0.18901	0.11121759	0.26826	-7.835	0.59940	D	.	.	0.121	0.25265	B	.	.	0.795957	0.11666	8.248	0.52257582194253571	0.04714	0.01916	0.05858	N	AEFCI	.	.	.	.	.	.	.	.	.	1.98083583576756E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	-0.605000	0.05757	-6.332000	0.01428	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	225.85	10	chr15	28843163	.	C	A	225.85	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.826;DP=209;ExcessHet=0.119;FS=1.824;InbreedingCoeff=-0.0784;MLEAC=2;MLEAF=0.056;MQ=55.59;MQRankSum=-1.559;QD=9.82;ReadPosRankSum=0.071;SOR=0.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,3:9:99:1|0:28843098_C_CCCCCATCTGCTCCTCCTGCTT:108,0,243:28843098	16	0	2	1
chr15	28843173	28843173	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G931A:p.E311K	.	623	889	10	0	0	10	0.00559284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1323313614	5.055e-05	0.0003	2.771e-05	7.401e-05	0.0004	3.699e-05	3.282e-05	0.0002	0.0001	0	0.0004	0	0.0002	0	0	2.832e-05	3.097e-05	0.0004	0.0003	0.0025	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0004	0	0	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07834345	0.12474	T	.	.	.	.	.	.	.	.	.	0.030977101992109582	0.03046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.728627	0.34357	T	0.024559313	0.01299	0.06746355	0.13960	0.024559313	0.01299	0.06746355	0.13960	-7.453	0.57279	T	.	.	0.085	0.10256	B	.	.	0.758504	0.11281	7.908	0.45310543330938985	0.03547	0.00741	0.03094	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	-2.407000	0.01121	-8.590000	0.00945	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	235.23	12	chr15	28843173	.	C	T	235.23	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2;DP=206;ExcessHet=0.119;FS=2.128;InbreedingCoeff=-0.0889;MLEAC=2;MLEAF=0.056;MQ=54.9;MQRankSum=-1.501;QD=11.76;ReadPosRankSum=-1.016;SOR=0.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,3:9:99:1|0:28843098_C_CCCCCATCTGCTCCTCCTGCTT:108,0,243:28843098	16	0	2	1
chr15	28843184	28843184	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G920A:p.R307Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234911443	0.0001	0.0004	8.898e-05	0.0001	0.0006	8.363e-05	7.398e-05	0.0002	0.0002	0	0.0006	9.459e-05	0.0002	0	0	9.178e-05	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0.0003	0	0	0.0002	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09230423	0.16243	T	.	.	.	.	.	.	.	.	.	0.015862042107251405	0.01542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.772023	0.40277	T	0.025436746	0.01482	0.052157898	0.08539	0.025436746	0.01482	0.052157898	0.08539	-7.527	0.57801	D	.	.	0.092	0.13409	B	.	.	1.226396	0.16205	12.39	0.49541547242566591	0.04228	0.00812	0.03292	N	AEFCI	.	.	.	.	.	.	.	.	.	1.82142312209372E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-1.693000	0.02018	-5.115000	0.01843	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3416:0.0:0.6584	3.773	0.08172	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	154.33	15	chr15	28843184	.	C	T	154.33	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2.1;DP=212;ExcessHet=0.119;FS=2.694;InbreedingCoeff=-0.0896;MLEAC=2;MLEAF=0.056;MQ=55.54;MQRankSum=0.319;QD=9.08;ReadPosRankSum=-1.016;SOR=0.124	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,3:9:99:1|0:28843098_C_CCCCCATCTGCTCCTCCTGCTT:108,0,243:28843098	16	0	2	1
chr15	29124687	29124687	C	G	exonic	FAM189A1	.	nonsynonymous SNV	FAM189A1:NM_015307:exon10:c.G1303C:p.A435P	.	426	1057	37	2	0	41	0.0190255	1.0000	0.972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	0.00239617	0.0068	0.0022	0.0071	0	0	0.0123	0.0266	0.0029	0.0021604	334	154602	rs61736885	0.0090	0.0086	0.0091	0.0089	0.0400	0.0089	0.0088	0.0358	0.0341	0.0024	0.0050	0.0168	8.395e-05	0.0009	0.0400	0.0101	0.0092	0.0025	0.0066	0.0066	0.0068	0.0064	0.0096	0.0063	0.0062	0.0089	0.0087	0.0024	0.0011	0.0096	0.0176	0	0.0007	0.0374	0.0095	0.0085	0.0039	0.293	0.14843	T	0.418	0.14200	T	0.929	0.51690	P	0.519	0.48163	P	0.406465	0.04566	N	1.383280	0.993407	0.23718	N	0.895	0.22405	L	4.1	0.02944	T	-0.43	0.14390	N	0.112	0.09914	-0.9404	0.42552	T	0.008	0.02926	T	9	0.005343735	0.00117	T	.	.	.	0.070	0.20419	.	.	0.112648838833	0.10856	0.12152855287662725	0.12079	.	.	0.328835964203	0.14758	T	0.00334	0.02748	T	-0.606268	0.00133	T	-0.634243	0.10094	T	0.00694505413504118	0.00079	T	0.29847	0.05558	T	0.1109204	0.26215	0.1353888	0.32417	0.1109204	0.26215	0.1353888	0.32416	-3.344	0.14311	T	.	.	0.070	0.03515	B	.	.	2.485933	0.32067	18.93	0.98772934176810789	0.46002	0.52931	0.29249	D	AEFDBCIJ	0.438409	0.49781	N	-0.269605845737956	0.30328	1.690033	-0.377055002329031	0.25682	1.413872	0.999585297186929	0.40607	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.56	2.65	0.30588	0.667000	0.24794	0.835000	0.21986	0.537000	0.25018	0.437000	0.26463	0.720000	0.26347	0.032000	0.13371	0.1796:0.7254:0.0:0.095	6.469	0.21197	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026829	0.015957	0.046154	0.022523	0.083333	0.000000	0.022989	0.013158	0.02632	1099.33	34	chr15	29124687	.	C	G	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.234;DP=722;ExcessHet=0;FS=2.912;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.234;SOR=1.024	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1113,0,1027	18	0	1	0
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	5964.23	102	chr15	33066577	.	C	G	5964.23	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-1.706;DP=1809;ExcessHet=6.9875;FS=214.034;InbreedingCoeff=-0.5833;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=0.759;SOR=11.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,23:124:99:0|1:33066576_A_G:418,0,3341:33066576	1	0	10	8
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q	.	.	.	.	.	.	.	.	.	.	.	3676472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2667	3466.35	104	chr15	33066579	.	C	G	3466.35	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-4.77;DP=1876;ExcessHet=5.3738;FS=177.509;InbreedingCoeff=-0.4075;MLEAC=9;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.676;SOR=10.462	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,18:127:99:0|1:33066576_A_G:263,0,4131:33066576	7	0	8	4
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4091	3779.55	104	chr15	33066580	.	C	G	3779.55	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-3.599;DP=1781;ExcessHet=5.3738;FS=184.997;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=0.608;SOR=10.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,18:124:99:.:.:373,0,4096:.	2	0	9	8
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2088.47	103	chr15	33066583	.	C	G	2088.47	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-3.267;DP=1752;ExcessHet=2.9153;FS=173.431;InbreedingCoeff=-0.3173;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=0.79;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,17:130:57:0|1:33066576_A_G:57,0,4429:33066576	10	0	5	4
chr15	39978082	39978082	G	A	exonic	EIF2AK4	.	nonsynonymous SNV	EIF2AK4:NM_001013703:exon13:c.G2254A:p.A752T	Pulmonary venoocclusive disease 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00900893798302	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1462495433	6.926e-07	5.472e-06	1.378e-06	0	9.089e-07	0	0	.	.	0	0	0	0	0	0	9.089e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.10980	T	0.569	0.08839	T	0.031	0.20130	B	0.006	0.12133	B	0.000023	0.55875	D	0.122777	0.861785	0.35401	D	0.09	0.08384	N	-0.36	0.68754	T	-0.03	0.07444	N	0.08	0.05542	-0.9104	0.46805	T	0.127	0.43380	T	10	0.105217725	0.19438	T	0.009009	0.23726	T	0.048	0.13305	0.362	0.36711	0.809584622637	0.80780	0.37951843133154917	0.37866	0.319986332736	0.34200	0.540204048157	0.44474	T	0.035889	0.23893	T	-0.115333	0.33890	T	-0.403445	0.32983	T	0.580051839351654	0.35620	D	0.845215	0.52386	T	0.07930941	0.18113	0.09676287	0.23005	0.07930941	0.18112	0.09676287	0.23005	-4.414	0.29746	T	.	.	0.070	0.03625	B	.	.	3.563004	0.50139	22.9	0.98716925061465866	0.45142	0.92348	0.55504	D	AEFBI	0.326331	0.42764	N	-0.198059835342151	0.33215	1.881881	0.0557369398727343	0.42349	2.559988	0.999997286355259	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.51	5.51	0.81769	3.149000	0.50351	9.236000	0.79390	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0815:0.0:0.9185:0.0	13.519	0.61014	619	0.66147	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	498.33	33	chr15	39978082	.	G	A	498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.739;DP=667;ExcessHet=0;FS=1.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=1.87;SOR=0.606	GT:AD:DP:GQ:PL	0/1:27,23:50:99:512,0,664	18	0	1	0
chr15	42685588	42685588	C	T	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon23:c.C4010T:p.S1337F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.100068223291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158275465	2.166e-06	2.052e-06	2.85e-06	1.463e-06	2.801e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	0	2.801e-05	0	0	0	0	1.854e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.835154	0.34979	D	2.31	0.66127	M	-1.26	0.79176	T	-2.79	0.59059	D	0.526	0.55540	0.222	0.86275	D	0.512	0.81700	D	7	0.47012138	0.59810	T	0.100068	0.77211	D	0.418	0.72780	0.23	0.15705	0.8050721973	0.80324	0.11182315468895598	0.11111	.	.	0.420526981354	0.27908	T	0.034078	0.23177	T	0.11131	0.65489	D	0.0446572	0.73233	D	0.920368134975433	0.57950	D	0.830517	0.49623	T	0.41149142	0.61520	0.4127159	0.65466	0.41149142	0.61521	0.4127159	0.65466	-5.846	0.44973	T	.	.	0.773	0.76081	P	.	.	4.779930	0.77470	26.7	0.99846152033318225	0.92576	0.97537	0.75396	D	AEFBI	0.433800	0.49511	N	0.442787835595365	0.63796	4.620235	0.523508601483309	0.69577	5.380064	0.999998913103559	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.63	5.63	0.86108	5.284000	0.65431	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.480	0.87563	91	0.96221	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	3781.33	85	chr15	42685588	.	C	T	3781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=1682;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.587;SOR=0.923	GT:AD:DP:GQ:PL	0/1:117,128:245:99:3795,0,3503	18	0	1	0
chr15	43240864	43240864	T	A	exonic	TGM5	.	nonsynonymous SNV	TGM5:NM_004245:exon6:c.A743T:p.K248M,TGM5:NM_201631:exon7:c.A989T:p.K330M	Peeling skin syndrome 2, Autosomal recessive	0	1507	14	1	0	16	0.00528053	.	.	.	338967	Acral_peeling_skin_syndrome|not_provided	MONDO:MONDO:0012345,MedGen:C1853354,OMIM:609796,Orphanet:263534|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.538	0.199842821306	7.7e-05	0.000399361	0.0005	0	0	0	0	0.0001	0.0033	0.0031	0.0004075	63	154602	rs201805126	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	5.975e-05	2.236e-05	0	0	0	0.0012	6.745e-05	0.0004	0.0026	0.0001	0.0001	7.709e-05	0.0001	0.0019	6.507e-05	5.319e-05	0.0010	0.0007	0	0	0	0	0	0	0	0.0001	0	0.0019	0.008	0.58626	D	0.039	0.51112	D	0.909	0.73220	P	0.866	0.68059	P	0.000868	0.41335	D	0.231893	0.718985	0.29941	N	2.485	0.72352	M	-2.43	0.88689	D	-2.73	0.58085	D	0.497	0.53972	0.318	0.87846	D	0.707	0.89911	D	10	0.017929494	0.00386	T	0.199843	0.86675	D	0.538	0.80664	.	.	0.768130985018	0.76600	0.5314309952880202	0.53068	0.73787972437	0.63083	0.432078063488	0.29492	T	0.22466	0.86781	T	-0.261657	0.12708	T	-0.152306	0.59038	T	0.147743650922521	0.16922	T	0.546745	0.20563	T	0.27050513	0.50123	0.265938	0.52432	0.31301102	0.54045	0.29437104	0.55466	-7.389	0.56827	T	0.5039485173676317	0.57873	0.180	0.39613	B	.;.;.;.;.	.;.;.;.;.	3.659112	0.51976	23.2	0.99557655168147041	0.71583	0.78772	0.38915	D	AEFBI	0.460775	0.51081	N	0.174394596270673	0.49972	3.191869	0.109576006589017	0.45037	2.774107	0.999993037261078	0.74766	0.559995	0.30671	0	0.624146	0.53433	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.39	4.27	0.50009	0.211000	0.17268	4.364000	0.43127	0.601000	0.45875	0.114000	0.23067	1.000000	0.68203	0.982000	0.59238	0.0:0.0867:0.0:0.9133	9.226	0.36569	15	0.98792	Transglutaminase-like|Transglutaminase-like;Transglutaminase-like|Transglutaminase-like;Transglutaminase-like|Transglutaminase-like;Transglutaminase-like|Transglutaminase-like;.	.	.	.	.	.	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	0.003021	0.000000	0.001359	0.002924	0.050000	0.000000	0.000000	0.011364	0.02632	1696.33	33	chr15	43240864	.	T	A	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.076;DP=769;ExcessHet=0;FS=1.365;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.307;SOR=0.841	GT:AD:DP:GQ:PL	0/1:85,68:153:99:1710,0,2143	18	0	1	0
chr15	43421079	43421079	G	A	exonic	TP53BP1	.	nonsynonymous SNV	TP53BP1:NM_001141979:exon20:c.C4196T:p.T1399M,TP53BP1:NM_001141980:exon20:c.C4196T:p.T1399M,TP53BP1:NM_005657:exon20:c.C4181T:p.T1394M,TP53BP1:NM_001355001:exon21:c.C1316T:p.T439M	.	422	1092	8	0	0	8	0.00364964	.	.	.	758712	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.162	0.013232764584	7.7e-05	0.000399361	0.0007	0	0	0	0	9.002e-05	0.0033	0.0045	0.0005563	86	154602	rs200691218	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	5.974e-05	2.236e-05	3.826e-05	2.519e-05	0	0.0012	7.644e-05	0.0003	0.0040	0.0001	0.0001	6.422e-05	0.0002	0.0025	8.657e-05	7.25e-05	0.0014	0.0011	0	0	0	0	0	0	0.0034	0.0001	0	0.0025	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.000062	0.52346	D	0.121047	0.986631	0.81001	D	2.045	0.56016	M	3.36	0.05918	T	-2.55	0.55181	D	0.346	0.42931	-1.1394	0.01380	T	0.042	0.18076	T	10	0.009740233	0.00219	T	0.013233	0.32470	T	0.162	0.41843	.	.	0.263709349026	0.25991	0.3476731069296314	0.34681	1.74205220635	0.90873	0.778426110744	0.78691	T	0.664096	0.89954	D	-0.437985	0.01329	T	-0.401919	0.33161	T	0.193006172776222	0.20020	T	0.931307	0.74459	D	0.33120018	0.55569	0.31619275	0.57601	0.33120018	0.55569	0.31619275	0.57600	-8.847	0.66707	D	.	.	0.421	0.60725	A	.;.;.	.;.;.	4.725613	0.76062	26.4	0.99889203722948816	0.96359	0.97069	0.72509	D	AEFDBI	0.546325	0.56047	D	0.637568227512038	0.75566	6.32876	0.666946965360565	0.79878	7.176436	0.999998909707621	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	5.535000	0.66885	11.901000	0.99356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.581	0.95460	18	0.98631	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.050000	0.000000	0.000000	0.007576	0.02632	1776.33	36	chr15	43421079	.	G	A	1776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.985;DP=737;ExcessHet=0;FS=3.857;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=-0.314;SOR=0.399	GT:AD:DP:GQ:PL	0/1:38,67:105:99:1790,0,790	18	0	1	0
chr15	43839648	43839648	A	G	exonic	WDR76	.	nonsynonymous SNV	WDR76:NM_001167941:exon5:c.A460G:p.M154V,WDR76:NM_024908:exon5:c.A652G:p.M218V	.	.	.	.	.	.	.	.	.	.	.	3356421	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.256	0.0382354208556	.	.	.	.	.	.	.	.	.	.	.	.	.	rs970854697	6.161e-06	6.156e-06	6.811e-06	5.505e-06	4.479e-05	2.9e-06	2.1e-06	7.42e-06	2.78e-06	0	4.479e-05	0	2.523e-05	0	0	8.998e-07	6.63e-05	1.161e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	6.548e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	6.548e-05	0	0	0	0	0	0	0	0.016	0.61437	D	0.056	0.46632	T	0.925	0.51395	P	0.548	0.49136	P	0.000000	0.84330	D	0.047019	0.941607	0.37340	D	2.855	0.82945	M	-0.05	0.63403	T	-1.93	0.53096	N	0.709	0.71232	-0.2948	0.75130	T	0.305	0.67612	T	10	0.3315259	0.50373	T	0.038235	0.58102	D	0.256	0.56694	0.351	0.34922	0.689248121995	0.68658	0.46712272935953975	0.46631	0.330573733271	0.35134	0.467969805002	0.34401	T	0.034352	0.25685	T	0.0995453	0.64243	D	-0.0947865	0.63798	T	0.974612653255463	0.70582	D	0.839216	0.51320	T	0.367632	0.58409	0.29872832	0.55907	0.367632	0.58410	0.29872832	0.55906	-6.777	0.52388	T	.	.	0.204	0.66575	B	.;.;.	.;.;.	4.145017	0.62127	24.4	0.99363259548019833	0.61113	0.94175	0.60340	D	AEFBI	0.481487	0.52275	N	0.509473814243931	0.67647	5.109785	0.489544179589972	0.67294	5.064971	0.999902857826368	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	4.9	4.9	0.63643	5.585000	0.67191	6.874000	0.56796	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	1.0:0.0:0.0:0.0	12.526	0.55431	6	0.99319	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	632.33	33	chr15	43839648	.	A	G	632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.283;DP=672;ExcessHet=0;FS=2.139;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.08;SOR=0.932	GT:AD:DP:GQ:PL	0/1:31,30:61:99:646,0,668	18	0	1	0
chr15	44651744	44651744	T	-	exonic	SPG11	.	frameshift deletion	SPG11:NM_001160227:exon6:c.1203delA:p.D402Ifs*14,SPG11:NM_025137:exon6:c.1203delA:p.D402Ifs*14	Amyotrophic lateral sclerosis 5, juvenile, Autosomal recessive;Charcot-Marie-Tooth disease, axonal, type 2X, Autosomal recessive;Spastic paraplegia 11, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	49692	Hereditary_spastic_paraplegia_11|Inborn_genetic_diseases|Amyotrophic_lateral_sclerosis_type_5|Charcot-Marie-Tooth_disease_axonal_type_2X|See_cases|SPG11-related_disorder	MONDO:MONDO:0011445,MedGen:C1858479,OMIM:604360,Orphanet:2822|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011196,MedGen:C1865864,OMIM:602099,Orphanet:300605|MONDO:MONDO:0014726,MedGen:C5569024,OMIM:616668,Orphanet:466775|.|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	8.642e-05	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs312262722	6.156e-06	6.156e-06	5.445e-06	6.875e-06	2.236e-05	2.9e-06	2.1e-06	3.09e-06	2.24e-06	0	2.236e-05	0	0	0	0	7.194e-06	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2399.29	34	chr15	44651743	.	CT	C	2399.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.628;DP=879;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.838;SOR=0.703	GT:AD:DP:GQ:PL	0/1:88,82:170:99:2413,0,2609	18	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4062	1514.26	131	chr15	51480616	.	G	C	1514.26	.	AC=13;AF=0.406;AN=32;BaseQRankSum=-4.773;DP=2473;ExcessHet=13.8672;FS=456.581;InbreedingCoeff=-0.5797;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.244;SOR=13.277	GT:AD:DP:GQ:PL	0/1:117,59:186:99:199,0,2640	3	0	13	3
chr15	51724938	51724938	C	T	exonic	LYSMD2	.	nonsynonymous SNV	LYSMD2:NM_001143917:exon2:c.G184A:p.G62R,LYSMD2:NM_001363969:exon2:c.G184A:p.G62R,LYSMD2:NM_153374:exon2:c.G457A:p.G153R	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00524064398447	0.0073	0.00339457	0.0055	0.0014	0.0029	0.0003	0.0008	0.0086	0.0011	0.0021	0.0057179	884	154602	rs138439412	0.0080	0.0080	0.0080	0.0079	0.0090	0.0079	0.0078	0.0088	0.0088	0.0010	0.0038	0.0258	0.0001	0.0013	0.0026	0.0090	0.0084	0.0025	0.0056	0.0056	0.0062	0.0049	0.0081	0.0052	0.0051	0.0075	0.0073	0.0017	0.0055	0.0062	0.0236	0.0002	0.0013	0	0.0081	0.0066	0.0025	0.423	0.22573	T	0.525	0.16865	T	0.018	0.17786	B	0.004	0.10090	B	0.243666	0.03600	N	1.443250	1	0.08975	N	1.155	0.29575	L	1.4	0.42122	T	-1.62	0.58085	N	0.082	0.07949	-1.0465	0.15389	T	0.056	0.23677	T	10	0.0031895638	0.00054	T	0.005241	0.13371	T	0.042	0.11227	0.305	0.27485	0.362758974969	0.35886	0.17948963885269326	0.17867	0.146231735787	0.16512	0.200983867049	0.00486	T	6.59E-4	0.00285	T	-0.64404	0.00079	T	-0.691073	0.06327	T	0.00286071943286836	0.00030	T	0.641836	0.29365	T	0.041086152	0.05984	0.056221467	0.10006	0.041086152	0.05984	0.056221467	0.10006	-3.339	0.17467	T	.	.	0.072	0.14933	B	.;.;.;.	.;.;.;.	1.234578	0.16299	12.45	0.61355466062863984	0.06688	0.51693	0.28955	D	AEFDBHI	0.182783	0.31011	N	-0.788265873553229	0.13615	0.6720113	-0.741257619712859	0.15938	0.840687	0.999977409856512	0.50053	0.645754	0.44609	0	0.696144	0.67643	0	0.608524	0.38960	0	0.704051	0.69138	0	.	.	4.91	1.72	0.23498	1.274000	0.32736	0.230000	0.16179	-0.182000	0.10109	0.002000	0.15269	0.000000	0.08366	0.876000	0.41813	0.0:0.4926:0.3234:0.184	6.984	0.23899	283	0.88803	.;.;.;.	.	.	.	.	rs138439412	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.005051	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	989.33	34	chr15	51724938	.	C	T	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=707;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.816;SOR=0.805	GT:AD:DP:GQ:PL	0/1:47,39:86:99:1003,0,1160	18	0	1	0
chr15	63597516	63597516	G	A	exonic	FBXL22	.	nonsynonymous SNV	FBXL22:NM_001367807:exon1:c.G124A:p.V42M,FBXL22:NM_001367808:exon1:c.G124A:p.V42M,FBXL22:NM_001367809:exon1:c.G124A:p.V42M,FBXL22:NM_203373:exon1:c.G124A:p.V42M	.	435	1084	3	0	0	3	0.00138185	.	.	.	3442491	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.526	0.0772033709326	7.7e-05	.	3.301e-05	0	0	0	0	6.007e-05	0	0	2.59e-05	4	154602	rs367605652	2.052e-05	2.052e-05	1.634e-05	2.475e-05	0.0005	1.456e-05	1.264e-05	0.0001	7.541e-05	2.987e-05	0.0001	0	5.038e-05	0	0.0005	1.619e-05	1.656e-05	0	1.315e-05	1.313e-05	2.57e-05	0	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	-0.02	0.62918	T	.	.	.	0.613	0.82559	-0.3281	0.74188	T	0.348	0.71249	T	10	0.56838185	0.65180	D	0.077203	0.72714	D	0.526	0.79947	.	.	0.602107291794	0.59893	0.5983892764624129	0.59769	0.745215368808	0.63480	0.589835584164	0.51470	T	0.164209	0.50958	T	0.108105	0.65154	D	0.14321	0.79751	D	0.624632000923157	0.37396	D	0.854215	0.54045	D	0.33035746	0.55501	0.3368268	0.59480	0.33035746	0.55501	0.3368268	0.59480	-9.151	0.68664	D	.	.	0.867	0.80705	P	.;.;.	.;.;.	4.792489	0.77791	26.8	0.99887189055905468	0.96204	0.96880	0.71442	D	AEFDBCIJ	0.937467	0.93530	D	0.650923674793274	0.76429	6.484809	0.636744391311684	0.77627	6.715922	1.0	0.98316	0.517182	0.21443	0	0.379588	0.06130	0	0.478664	0.07449	1	0.664235	0.64389	0	.	.	5.39	5.39	0.77615	9.864000	0.98442	7.388000	0.58495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:1.0:0.0	19.189	0.93643	627	0.65350	F-box domain;F-box domain;F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1034.33	34	chr15	63597516	.	G	A	1034.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.061;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.379;SOR=0.734	GT:AD:DP:GQ:PL	0/1:68,50:118:99:1048,0,1517	18	0	1	0
chr15	75207451	75207451	C	G	exonic	C15orf39	.	nonsynonymous SNV	C15orf39:NM_015492:exon2:c.C1403G:p.P468R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0854868061498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.751e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.999	0.77913	D	0.994	0.82059	D	0.003941	0.34318	N	0.234553	0.986197	0.40395	D	2.015	0.55033	M	-0.05	0.63403	T	-5.83	0.88361	D	0.552	0.58031	-0.2648	0.75956	T	0.374	0.73265	T	10	0.35722768	0.52443	T	0.085487	0.74543	D	0.210	0.50028	0.174	0.08014	0.260580752073	0.25663	0.45669359445564933	0.45587	0.771540666824	0.64789	.	.	.	0.081597	0.36634	T	0.0533819	0.58778	T	-0.161097	0.58253	T	0.961752712726593	0.66171	D	0.754025	0.37774	T	0.576134	0.71397	0.5721762	0.75223	0.576134	0.71398	0.5721762	0.75223	-9.975	0.73762	D	.	.	0.233	0.50082	B	.;.;.	.;.;.	2.796594	0.36774	20.3	0.95671015317027941	0.27516	0.38934	0.26100	N	AEFBCI	0.078766	0.15899	N	0.170282885055421	0.49775	3.17425	0.0149515091653294	0.40409	2.411051	0.999999963360591	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.2	5.2	0.71720	1.102000	0.30662	7.652000	0.63756	0.580000	0.29708	0.012000	0.18695	1.000000	0.68203	0.013000	0.09966	0.1815:0.8185:0.0:0.0	11.342	0.48776	419	0.81524	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1039.33	85	chr15	75207451	.	C	G	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=1474;ExcessHet=0;FS=8.257;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=-2.047;SOR=0.607	GT:AD:DP:GQ:PL	0/1:55,42:97:99:1053,0,1359	18	0	1	0
chr15	81290495	81290495	G	A	exonic	IL16	.	nonsynonymous SNV	IL16:NM_001172128:exon11:c.G1375A:p.E459K,IL16:NM_001352686:exon11:c.G1528A:p.E510K,IL16:NM_172217:exon11:c.G1375A:p.E459K,IL16:NM_001352685:exon12:c.G865A:p.E289K	.	420	1075	27	0	0	27	0.0124024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	.	.	0.0135783	0.0105	0.0002	0.0011	0.0002	0	3.015e-05	0.0045	0.0765	0.0088615	1370	154602	rs200730945	0.0046	0.0046	0.0024	0.0068	0.0733	0.0045	0.0044	0.0717	0.0711	0.0001	8.956e-05	0	7.566e-05	0	0.0028	3.328e-05	0.0048	0.0733	0.0024	0.0024	0.0010	0.0037	0.0732	0.0022	0.0021	0.0669	0.0644	4.813e-05	0	6.533e-05	0	0.0002	0	0	1.47e-05	0.0009	0.0732	0.002	0.78490	D	0.011	0.64786	D	0.997	0.70673	D	0.961	0.70482	D	0.000409	0.44736	D	0.000000	0.999976	0.53665	D	2.34	0.67151	M	2.19	0.18724	T	-1.18	0.30140	N	0.361	0.43126	-1.0946	0.04810	T	0.098	0.36651	T	10	0.0032061934	0.00054	T	.	.	.	0.251	0.56024	0.443	0.49975	.	.	0.5396994548846176	0.53894	0.500221979732	0.48442	0.627624154091	0.56808	T	0.169673	0.58592	T	-0.229002	0.16782	T	-0.0466498	0.67252	D	0.0447532322338824	0.04557	T	0.929307	0.74183	D	0.28043443	0.51090	0.305622	0.56588	0.28043443	0.51090	0.305622	0.56587	-10.927	0.79460	D	.	.	0.233	0.49490	B	.;.;.	.;.;.	3.857957	0.55934	23.7	0.99926237934331785	0.99103	0.94383	0.60991	D	AEFBCI	0.920021	0.89138	D	0.627506272716689	0.74919	6.215501	0.548809964980565	0.71315	5.63603	0.999999999997521	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.89	4.89	0.63387	8.102000	0.89386	9.316000	0.80002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.572000	0.30699	0.0:0.0:1.0:0.0	18.277	0.90025	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.041667	0.1053	2378.43	34	chr15	81290495	.	G	A	2378.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.775;DP=738;ExcessHet=0.7564;FS=0.524;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.799;SOR=0.632	GT:AD:DP:GQ:PL	0/1:20,20:40:99:457,0,512	15	0	4	0
chr15	81341478	81341478	C	T	exonic	TMC3	.	nonsynonymous SNV	TMC3:NM_001080532:exon16:c.G1756A:p.V586I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0186048960065	0.0022	0.000998403	0.0009	0.0046	0.0001	0	0	0.0007	0	0.0009	0.0008538	132	154602	rs201261080	0.0012	0.0012	0.0012	0.0011	0.0034	0.0011	0.0011	0.0029	0.0027	0.0034	0.0002	3.836e-05	0	0	0.0002	0.0013	0.0018	0.0008	0.0019	0.0019	0.0021	0.0016	0.0045	0.0017	0.0016	0.0040	0.0037	0.0045	0	0.0005	0	0	0	0	0.0012	0.0028	0.0004	0.18	0.22053	T	0.152	0.32355	T	0.976	0.58310	D	0.751	0.56062	P	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	0.45	0.12780	N	-0.03	0.63077	T	-0.65	0.18877	N	0.353	0.66101	-0.6838	0.61197	T	0.232	0.59842	T	10	0.014296353	0.00301	T	0.018605	0.40730	T	0.166	0.42578	.	.	0.468253365638	0.46452	0.45094334753411586	0.45012	0.45569561793	0.45240	0.848659992218	0.89412	D	0.006539	0.05971	T	-0.349641	0.04749	T	-0.273507	0.47464	T	0.027311357502147	0.01589	T	0.949605	0.80601	D	0.14856201	0.33910	0.15524322	0.36399	0.14856201	0.33910	0.15524322	0.36398	-8.583	0.64977	D	.	.	0.114	0.22537	B	.;.	.;.	4.478196	0.69849	25.4	0.9985401805771954	0.93279	0.97366	0.74295	D	AEFDBI	0.897932	0.84067	D	0.411156831251637	0.62034	4.413032	0.48959240519413	0.67298	5.065399	0.999999999999999	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.38	5.38	0.77279	7.506000	0.80535	5.823000	0.50099	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	19.121	0.93347	934	0.15400	TMC domain;TMC 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	.	.	.	.	.	.	.	.	0.02632	696.33	33	chr15	81341478	.	C	T	696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.21;DP=695;ExcessHet=0;FS=7.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-0.359;SOR=1.039	GT:AD:DP:GQ:PL	0/1:49,33:82:99:710,0,1193	18	0	1	0
chr15	85768967	85768967	C	T	exonic	KLHL25	.	nonsynonymous SNV	KLHL25:NM_022480:exon2:c.G844A:p.V282M	.	431	1073	18	0	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	0.0040	0.00479233	0.0063	0.0008	0.0017	0.0001	0.0100	0.0054	0.0057	0.0186	0.0058279	901	154602	rs139814429	0.0051	0.0051	0.0045	0.0056	0.0189	0.0050	0.0049	0.0181	0.0178	0.0006	0.0026	0.0021	0.0001	0.0110	0.0085	0.0042	0.0049	0.0189	0.0042	0.0042	0.0039	0.0046	0.0164	0.0040	0.0039	0.0135	0.0124	0.0007	0	0.0036	0.0026	0.0002	0.0113	0.0068	0.0050	0.0038	0.0164	0.0	0.91255	D	0.05	0.48080	T	0.303	0.32643	B	0.039	0.23607	B	0.001035	0.40562	N	0.157021	0.877088	0.35676	D	1.88	0.49984	L	-0.5	0.70480	T	-0.13	0.08971	N	0.311	0.35088	-0.6864	0.61076	T	0.178	0.52318	T	10	0.009336561	0.00211	T	.	.	.	0.126	0.34673	.	.	0.442160178816	0.43838	0.45976779887613484	0.45894	0.138109635781	0.15570	0.605850815773	0.53731	T	0.019296	0.15402	T	-0.313028	0.07485	T	-0.207483	0.53936	T	0.0599843843448097	0.07166	T	0.993076	0.97777	D	0.2028739	0.42346	0.15574831	0.36495	0.2028739	0.42346	0.15574831	0.36494	-4.404	0.29612	T	.	.	0.139	0.30476	B	.	.	4.239608	0.64268	24.7	0.99414508140852753	0.63453	0.90909	0.52491	D	AEFDGBI	0.240697	0.36243	N	-0.017471374367179	0.41065	2.449691	0.117594766082298	0.45448	2.807862	0.999999962092766	0.74766	0.736574	0.97449	0	0.653731	0.59785	0	0.732669	0.93749	0	0.683762	0.67416	0	.	.	5.13	5.13	0.69729	2.697000	0.46727	5.968000	0.51946	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.983000	0.59808	0.0:0.9193:0.0:0.0807	13.024	0.58208	773	0.48803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.010101	0.004076	0.000000	0.000000	0.000000	0.012195	0.000000	0.02632	2035.33	158	chr15	85768967	.	C	T	2035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.652;DP=1605;ExcessHet=0;FS=3.436;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-2.384;SOR=0.957	GT:AD:DP:GQ:PL	0/1:98,81:179:99:2049,0,2584	18	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	635.01	117	chr15	88530840	.	T	C	635.01	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.068;DP=1914;ExcessHet=2.9153;FS=131.31;InbreedingCoeff=-0.2406;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=0.803;SOR=11.121	GT:AD:DP:GQ:PL	0/1:108,30:138:99:145,0,2508	11	0	7	1
chr15	89776915	89776915	G	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	164	151	35	35	1137	1242	0.257985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9118	2087.72	45	chr15	89776915	.	G	*	2087.72	.	AC=31;AF=0.912;AN=34;DP=1075;ExcessHet=0;FS=0;InbreedingCoeff=0.4414;MLEAC=32;MLEAF=0.941;MQ=60;QD=3.01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,56:56:99:1|1:89776888_G_A:2436,169,0:89776888	1	15	1	2
chr15	90918341	90918341	C	A	exonic	MAN2A2	.	nonsynonymous SNV	MAN2A2:NM_006122:exon21:c.C3142A:p.L1048M,MAN2A2:NM_001320977:exon23:c.C3217A:p.L1073M	.	411	1107	4	0	0	4	0.00180343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	.	0.0007	0.0071885	0.0024	9.61e-05	0	0.0284	0	0.0004	0	0.0010	0.0023027	356	154602	rs140227601	0.0009	0.0009	0.0009	0.0009	0.0223	0.0008	0.0008	0.0210	0.0206	5.974e-05	2.236e-05	0.0039	0.0223	0	0.0007	8.993e-05	0.0016	0.0010	0.0013	0.0013	0.0011	0.0014	0.0295	0.0011	0.0011	0.0257	0.0243	2.405e-05	0	0.0001	0.0026	0.0295	0	0.0034	0.0002	0	0.0025	0.098	0.30943	T	0.091	0.40110	T	0.831	0.46109	P	0.787	0.57594	P	0.000134	0.49741	D	0.139082	0.998891	0.53665	D	2.19	0.61577	M	-1.6	0.82165	D	-1.29	0.32387	N	0.318	0.36148	-0.2401	0.76623	T	0.357	0.71990	T	10	0.012439787	0.00267	T	.	.	.	0.544	0.81018	.	.	0.707640098894	0.70509	0.5975722823008083	0.59688	0.828146683794	0.67508	0.506752610207	0.39769	T	0.426443	0.77624	T	-0.343375	0.05158	T	-0.240944	0.50707	T	0.0597494535149721	0.07129	T	0.822218	0.51943	T	0.07132041	0.15781	0.07037245	0.14942	0.07132041	0.15780	0.07037245	0.14942	-9.746	0.72377	D	.	.	0.134	0.29172	B	.;.;.	.;.;.	1.500348	0.19289	14.19	0.99109453079761467	0.52674	0.40352	0.26417	N	AEFDGBCI	0.254813	0.37406	N	-0.273517749702485	0.30175	1.680062	-0.430843072838145	0.24097	1.317694	0.999996560637753	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.58	1.56	0.22423	-0.112000	0.10762	1.030000	0.23473	-0.186000	0.09761	0.000000	0.06391	0.473000	0.25062	0.413000	0.27073	0.0:0.6685:0.124:0.2075	7.126	0.24651	626	0.65439	Glycosyl hydrolase family 38, C-terminal;Glycosyl hydrolase family 38, C-terminal;Glycosyl hydrolase family 38, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.011364	0.02632	1286.33	33	chr15	90918341	.	C	A	1286.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.478;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.105;SOR=0.674	GT:AD:DP:GQ:PL	0/1:75,54:129:99:1300,0,1961	18	0	1	0
chr15	92944453	92944453	A	G	exonic	CHD2	.	nonsynonymous SNV	CHD2:NM_001042572:exon10:c.A1091G:p.N364S,CHD2:NM_001271:exon10:c.A1091G:p.N364S	Epileptic encephalopathy, childhood-onset, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	208238	Developmental_and_epileptic_encephalopathy_94|not_specified|CHD2-related_disorder|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0014150,MedGen:C3809278,OMIM:615369,Orphanet:1942,Orphanet:2382|MedGen:CN169374|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.119	0.0192141080012	0.0006	.	0.0003	0.0004	8.654e-05	0	0	0.0004	0	6.106e-05	0.0002781	43	154602	rs143043614	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0001	0.0002	3.843e-05	0.0001	5.634e-05	0.0005	0.0003	0.0001	8.134e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	0	0.0001	0	0.0002	0	0	0.0005	0	0	0.155	0.24183	T	0.171	0.31326	T	0.027	0.19556	B	0.01	0.14941	B	0.002345	0.36727	U	0.000000	0.97626	0.41601	D	2.215	0.62545	M	-0.62	0.71895	T	-1.88	0.50992	N	0.108	0.25622	-0.7768	0.56481	T	0.261	0.63208	T	10	0.12121746	0.22975	T	0.019214	0.41510	T	0.119	0.33137	.	.	0.721469051939	0.71901	0.3221108858567703	0.32124	0.377517448333	0.39182	0.497993409634	0.38548	T	0.199066	0.55624	T	-0.419708	0.01718	T	-0.482077	0.24225	T	0.0165791890467952	0.00419	T	0.939006	0.77145	D	0.0368888	0.04625	0.055732854	0.09829	0.0368888	0.04625	0.055732854	0.09828	-7.616	0.58457	D	0.27661135701400325	0.37121	0.075	0.20274	B	.;.;.;.;.;.	.;.;.;.;.;.	2.622846	0.34091	19.53	0.98674616905874324	0.44525	0.98275	0.81167	D	AEFBI	0.465740	0.51368	N	-0.146872104399307	0.35367	2.030579	-0.0288330759502756	0.38419	2.263158	0.998770578572072	0.37645	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	3.01	0.33872	4.158000	0.57932	3.596000	0.39206	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.7951:0.0:0.2049:0.0	8.615	0.32988	949	0.11373	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	937.33	34	chr15	92944453	.	A	G	937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.12;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=1.02;SOR=0.743	GT:AD:DP:GQ:PL	0/1:38,39:77:99:951,0,938	18	0	1	0
chr15	94298471	94298471	C	G	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001385001:exon2:c.C206G:p.S69C,MCTP2:NM_001385003:exon2:c.C206G:p.S69C,MCTP2:NM_001385004:exon2:c.C206G:p.S69C,MCTP2:NM_001385005:exon2:c.C206G:p.S69C,MCTP2:NM_001385006:exon2:c.C206G:p.S69C,MCTP2:NM_001385008:exon2:c.C206G:p.S69C,MCTP2:NM_001159643:exon3:c.C206G:p.S69C,MCTP2:NM_001385002:exon3:c.C206G:p.S69C,MCTP2:NM_018349:exon3:c.C206G:p.S69C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0367664904906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.59928	D	0.019	0.59159	D	0.994	0.68779	D	0.847	0.60933	P	0.000164	0.48594	D	0.000000	1	0.81001	D	2.215	0.62545	M	-0.72	0.72994	T	-1.31	0.33197	N	0.244	0.35194	-0.3799	0.72654	T	0.332	0.69927	T	10	0.17673427	0.32673	T	0.036766	0.57199	D	0.221	0.51721	0.3	0.26683	0.36453787251	0.36064	0.2942207127209903	0.29335	0.018939926204	0.01841	0.408009529114	0.26181	T	0.048589	0.28061	T	-0.00336566	0.51191	T	-0.242611	0.50543	T	0.934820055961609	0.60257	D	0.666133	0.27528	T	0.110392645	0.26095	0.083750136	0.19215	0.110392645	0.26095	0.083750136	0.19215	-5.572	0.43156	T	.	.	0.080	0.07841	B	.;.;.	.;.;.	1.600679	0.20464	14.76	0.99138639633858816	0.53464	0.50671	0.28717	D	AEFDBI	0.170093	0.29697	N	0.0723782459241489	0.45176	2.778674	0.0231050897175746	0.40789	2.440017	0.999999945112802	0.74766	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.04	5.04	0.67293	0.393000	0.20543	3.284000	0.37253	0.599000	0.40250	0.063000	0.21864	0.998000	0.33993	0.361000	0.25909	0.0:0.9166:0.0:0.0834	11.521	0.49802	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1378.33	33	chr15	94298471	.	C	G	1378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=828;ExcessHet=0;FS=3.423;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.259;SOR=0.648	GT:AD:DP:GQ:PL	0/1:65,51:116:99:1392,0,1929	18	0	1	0
chr15	94356159	94356159	G	A	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001385009:exon8:c.G530A:p.R177Q,MCTP2:NM_001385010:exon8:c.G530A:p.R177Q,MCTP2:NM_001385001:exon9:c.G1028A:p.R343Q,MCTP2:NM_001385003:exon9:c.G1028A:p.R343Q,MCTP2:NM_001385004:exon9:c.G1028A:p.R343Q,MCTP2:NM_001385005:exon9:c.G1028A:p.R343Q,MCTP2:NM_001385006:exon9:c.G1028A:p.R343Q,MCTP2:NM_001385008:exon9:c.G1028A:p.R343Q,MCTP2:NM_001159643:exon10:c.G1028A:p.R343Q,MCTP2:NM_001385002:exon10:c.G1028A:p.R343Q,MCTP2:NM_001385011:exon10:c.G710A:p.R237Q,MCTP2:NM_018349:exon10:c.G1028A:p.R343Q,MCTP2:NM_001385007:exon11:c.G746A:p.R249Q	.	441	1035	44	2	0	48	0.0226629	.	.	.	703430	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.174	0.0285784830168	0.0016	0.00139776	0.0026	0.0006	0.0009	0.0001	0.0005	0.0020	0.0044	0.0095	0.0023997	371	154602	rs77311454	0.0021	0.0022	0.0017	0.0026	0.0125	0.0021	0.0021	0.0102	0.0094	0.0002	0.0013	0.0010	0.0002	0.0008	0.0125	0.0017	0.0028	0.0099	0.0017	0.0017	0.0017	0.0018	0.0094	0.0016	0.0015	0.0072	0.0064	0.0005	0	0.0011	0.0023	0	0.0009	0.0034	0.0023	0.0033	0.0094	0.035	0.61437	D	0.043	0.49942	D	0.963	0.70673	D	0.49	0.50862	P	0.000031	0.55875	D	0.122719	0.811984	0.81001	D	2.275	0.64647	M	-0.58	0.71425	T	-1.57	0.37955	N	0.641	0.65330	-0.4166	0.71500	T	0.345	0.70996	T	10	0.009296387	0.00210	T	0.028578	0.51232	D	0.174	0.44019	.	.	0.493896554345	0.49026	0.5388158777713828	0.53806	0.0405451585251	0.04348	0.466655552387	0.34222	T	0.026746	0.19729	T	-0.274342	0.11277	T	-0.159031	0.58440	T	0.0203505476120027	0.00735	T	0.887811	0.61653	D	0.25309297	0.48329	0.2495227	0.50525	0.25309297	0.48328	0.2495227	0.50524	-8.481	0.64944	D	.	.	0.140	0.30765	B	.;.;.	.;.;.	4.182256	0.62963	24.5	0.99950071457453982	0.99938	0.99512	0.96919	D	AEFI	0.803652	0.72873	D	0.511913172638425	0.67793	5.129319	0.58567261811813	0.73911	6.048688	0.99997421069029	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.77	5.77	0.91077	8.265000	0.89801	11.878000	0.98757	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.753000	0.35893	0.0:0.0:1.0:0.0	19.605	0.95571	986	0.02773	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.006048	0.005102	0.004076	0.005848	0.050000	0.008621	0.003049	0.003788	0.02632	1579.33	33	chr15	94356159	.	G	A	1579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=1.07;SOR=0.766	GT:AD:DP:GQ:PL	0/1:46,63:109:99:1593,0,987	18	0	1	0
chr15	98891456	98891456	G	A	exonic	IGF1R	.	nonsynonymous SNV	IGF1R:NM_000875:exon3:c.G772A:p.G258S,IGF1R:NM_001291858:exon3:c.G772A:p.G258S	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3119044	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.813	0.296668878842	.	0.000199681	0.0003	9.694e-05	0	0	0	0	0	0.0022	0.0002587	40	154602	rs543792941	0.0002	0.0002	6.671e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	5.974e-05	0	0	0	0	0.0003	1.349e-05	0.0002	0.0023	3.284e-05	3.281e-05	3.855e-05	2.687e-05	0.0008	1.26e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.017	0.52492	D	0.115	0.58089	T	0.939	0.90584	P	0.56	0.72444	P	0.000015	0.62929	D	0.000000	1	0.81001	D	2.895	0.83812	M	-4.67	0.97973	D	-3.03	0.74193	D	0.7	0.72925	1.094	0.99386	D	0.959	0.98677	D	10	0.24206027	0.41395	T	0.296669	0.90745	D	0.813	0.93969	.	.	0.915375118006	0.91452	0.7919152212152811	0.79143	1.02142501696	0.75137	0.632767379284	0.57537	T	0.90999	0.98298	D	-0.0489295	0.44611	T	0.151082	0.80253	D	0.237654802422415	0.22311	T	0.80342	0.46506	T	0.4168267	0.61880	0.30001146	0.56034	0.47074214	0.65336	0.34220785	0.59950	-7.3	0.56196	T	0.26105467012534306	0.35246	0.152	0.33732	B	.;.;.;.;.	.;.;.;.;.	4.544623	0.71468	25.7	0.9986106689111679	0.93911	0.96295	0.68442	D	AEFGBHCI	0.871183	0.79245	D	0.608139497685239	0.73689	6.007296	0.513700266439756	0.68909	5.285809	1.0	0.98316	0.562547	0.31514	0	0.547309	0.14657	0	0.606735	0.37207	0	0.635551	0.53088	0	.	.	5.28	5.28	0.74118	8.086000	0.89338	9.829000	0.81850	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.707000	0.34357	0.0:0.0:1.0:0.0	19.269	0.93987	986	0.02773	Furin-like cysteine-rich domain;Furin-like cysteine-rich domain;Furin-like cysteine-rich domain;Furin-like cysteine-rich domain;Furin-like cysteine-rich 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	.	.	.	.	.	.	.	.	0.02632	2641.33	33	chr15	98891456	.	G	A	2641.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.05;DP=803;ExcessHet=0;FS=5.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=0.353;SOR=0.698	GT:AD:DP:GQ:PL	0/1:66,96:162:99:2655,0,1452	18	0	1	0
chr16	152928	152928	G	T	exonic	HBZ	.	stopgain	HBZ:NM_005332:exon1:c.G19T:p.E7X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021515	56	26028	rs2685129	0.0009	0.0026	0.0009	0.0009	0.0009	0.0008	0.0008	0.0009	0.0009	0.0004	0.0007	0.0015	2.519e-05	0.0008	0.0002	0.0009	0.0015	0.0004	0.0025	0.0042	0.0028	0.0023	0.0041	0.0023	0.0022	0.0037	0.0035	0.0008	0	0.0031	0.0032	0	0.0010	0	0.0041	0.0019	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.000166	0.48594	D	0.209996	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.705	0.70878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539151	0.95413	D	0.536677	0.95345	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.744298	0.96819	36	0.99742572234461957	0.83629	0.97789	0.77145	D	AEFDGBHCI	0.304085	0.41188	N	1.08895179500349	0.97924	17.04265	0.904903247030252	0.95783	13.96338	0.999999997466871	0.74766	0.59774	0.34471	0	0.573888	0.26702	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	4.66	4.66	0.57857	8.651000	0.90833	9.283000	0.79730	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.349000	0.25636	0.0:0.165:0.835:0.0	12.875	0.57376	789	0.46346	Globin	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	65.33	36	chr16	152928	.	G	T	65.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=693;ExcessHet=0;FS=12.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.65;MQRankSum=-7.512;QD=1.01;ReadPosRankSum=-1.641;SOR=2.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,7:65:79:0|1:152928_G_T:79,0,2409:152928	18	0	1	0
chr16	152931	152931	A	G	exonic	HBZ	.	nonsynonymous SNV	HBZ:NM_005332:exon1:c.A22G:p.R8G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.474	0.169964275739	.	.	1.666e-05	0	0	0	0	1.523e-05	0	6.072e-05	0.0021899	57	26028	rs199612791	0.0009	0.0025	0.0009	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0004	0.0007	0.0017	2.519e-05	0.0008	0.0002	0.0010	0.0015	0.0004	0.0026	0.0042	0.0029	0.0023	0.0041	0.0024	0.0023	0.0037	0.0035	0.0008	0	0.0035	0.0035	0	0.0011	0	0.0041	0.0024	0.0010	0.014	0.53172	D	0.001	0.83351	D	0.982	0.60036	D	0.849	0.60615	P	0.000002	0.62929	N	0.097389	0.998011	0.22395	N	2.55	0.74443	M	-3.29	0.93740	D	-4.24	0.76015	D	0.17	0.18103	0.272	0.87103	D	0.816	0.93805	D	10	0.2868187	0.46264	T	0.169964	0.84765	D	0.474	0.76685	.	.	0.963851864234	0.96346	0.461466249411667	0.46064	0.0254876186551	0.02602	0.320112794638	0.13439	T	0.605578	0.87422	D	0.0476525	0.58040	T	-0.169327	0.57504	T	0.586168646812439	0.35856	D	0.59994	0.22366	T	0.660813	0.75942	0.55533695	0.74281	0.660813	0.75944	0.55533695	0.74282	-9.347	0.69902	D	.	.	0.338	0.55774	B	.	.	3.543635	0.49775	22.8	0.99583198973142761	0.73159	0.81198	0.40653	D	AEFDGBHCI	0.369279	0.45607	N	0.240117052878877	0.53152	3.485422	0.185794504983142	0.49068	3.11454	0.999998631477524	0.74766	0.59774	0.34471	0	0.573888	0.26702	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	4.66	3.56	0.39892	3.543000	0.53387	4.800000	0.44962	-0.588000	0.04664	1.000000	0.71638	1.000000	0.68203	0.353000	0.25727	0.8209:0.0:0.1791:0.0	7.659	0.27557	789	0.46346	Globin|Globin	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	108.33	36	chr16	152931	.	A	G	108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.457;DP=696;ExcessHet=0;FS=10.797;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.42;MQRankSum=-7.669;QD=1.62;ReadPosRankSum=-3.104;SOR=2.052	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,9:67:99:0|1:152928_G_T:122,0,2403:152928	18	0	1	0
chr16	173005	173009	GAGGT	-	exonic	HBA2	.	nonframeshift deletion	HBA2:NM_000517:exon1:c.93_95del:p.R32del	Erythrocytosis (3);Heinz body anemia, Autosomal dominant;Hemoglobin H disease, nondeletional;Hypochromic microcytic anemia (3);Thalassemia, alpha-	997	523	2	0	0	2	0.0019084	.	.	.	362629	not_provided|alpha_Thalassemia|Hemoglobin_H_disease|Heinz_body_anemia|Erythrocytosis,_familial,_7	MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616|Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1349788558	0.0003	0.0002	0.0003	0.0003	0.0182	0.0003	0.0002	0.0134	0.0117	0	0.0007	0	0	0	0.0182	0.0002	0.0003	0.0006	0.0001	8.23e-05	0.0002	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0055	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	60.95	1	chr16	173004	.	AGAGGT	A	60.95	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.04;DP=47;ExcessHet=0;FS=0;InbreedingCoeff=-0.1228;MLEAC=1;MLEAF=0.029;MQ=31.17;MQRankSum=0.623;QD=10.16;ReadPosRankSum=0.524;SOR=0.307	GT:AD:DP:GQ:PL	0/1:4,2:6:72:72,0,147	16	0	1	2
chr16	176809	176813	GAGGT	-	exonic	HBA1	.	nonframeshift deletion	HBA1:NM_000558:exon1:c.93_95del:p.R32del	Erythremias, alpha- (3);Heinz body anemias, alpha-, Autosomal dominant;Hemoglobin H disease, nondeletional;Methemoglobinemias, alpha- (3);Thalassemias, alpha-	6	1502	14	0	0	14	0.00463883	.	.	.	1038385	Erythrocytosis,_familial,_7|not_provided|alpha_Thalassemia	MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181505507	3.39e-05	8.965e-05	2.577e-05	4.215e-05	0.0035	2.612e-05	2.341e-05	0.0021	0.0017	0	0.0001	0	0	0	0.0035	1.599e-05	0.0001	3.722e-05	2.757e-05	3.959e-05	2.682e-05	2.837e-05	6.764e-05	8.44e-06	5.34e-06	1.211e-05	6.36e-06	0	0	6.764e-05	0	0	0	0	4.563e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	352.79	22	chr16	176808	.	AGAGGT	A	352.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.077;DP=713;ExcessHet=0.119;FS=4.108;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=31.9;MQRankSum=0.103;QD=3.3;ReadPosRankSum=0.553;SOR=1.257	GT:AD:DP:GQ:PL	0/1:44,9:53:99:226,0,1786	17	0	2	0
chr16	259525	259525	G	A	exonic	FAM234A	.	nonsynonymous SNV	FAM234A:NM_001284497:exon4:c.G311A:p.R104K,FAM234A:NM_032039:exon4:c.G311A:p.R104K	.	427	1070	25	0	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00672025547804	0.0026	0.00299521	0.0038	0.0002	0.0015	0	0.0032	0.0042	0.0056	0.0078	0.0035446	548	154602	rs111339986	0.0034	0.0034	0.0030	0.0037	0.0081	0.0033	0.0032	0.0076	0.0074	0.0004	0.0014	0.0107	0	0.0021	0.0057	0.0031	0.0044	0.0081	0.0026	0.0026	0.0023	0.0028	0.0079	0.0024	0.0023	0.0059	0.0052	0.0006	0	0.0011	0.0124	0	0.0026	0.0034	0.0034	0.0033	0.0079	1.0	0.00964	T	1.0	0.02632	T	0.001	0.07471	B	0.001	0.04355	B	0.076338	0.21169	N	0.529473	0.998031	0.22385	N	.	.	.	0.56	0.54540	T	0.42	0.03352	N	0.136	0.13484	-0.9974	0.30646	T	0.040	0.17319	T	10	0.0065513253	0.00148	T	0.00672	0.17756	T	0.032	0.07718	.	.	0.190952846119	0.18690	0.6941718200402318	0.69358	0.132247561378	0.14905	0.259903490543	0.04880	T	0.028335	0.20549	T	-0.539553	0.00337	T	-0.541268	0.18172	T	0.00414213613300951	0.00044	T	0.547145	0.25265	T	0.022811828	0.00971	0.03151409	0.01751	0.022811828	0.00970	0.03151409	0.01751	-2.508	0.05836	T	.	.	0.08	0.11989	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.325254	0.06995	3.551	0.81296480262568094	0.13615	0.39395	0.26203	N	AEFDGBHCI	0.075816	0.15237	N	-1.03158616031932	0.07953	0.3712729	-0.909742077689428	0.11864	0.6070143	0.999992181554563	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.35	-2.97	0.05195	0.152000	0.16120	-0.222000	0.10754	-0.106000	0.15538	0.986000	0.36153	0.026000	0.21063	0.773000	0.36634	0.6193:0.133:0.2477:0.0	7.535	0.26873	754	0.51307	.;.;.;.;.;.;.;.	.	.	.	.	rs111339986	Likely benign	0	0	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	0.008056	0.010101	0.004076	0.000000	0.000000	0.017241	0.015244	0.007576	0.02632	978.33	35	chr16	259525	.	G	A	978.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.552;DP=704;ExcessHet=0;FS=1.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.839;SOR=0.671	GT:AD:DP:GQ:PL	0/1:39,40:79:99:992,0,920	18	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	10029.7	66	chr16	1397277	.	A	*	10029.7	.	AC=15;AF=0.536;AN=28;BaseQRankSum=-1.758;DP=1398;ExcessHet=0.25;FS=0;InbreedingCoeff=0.1529;MLEAC=18;MLEAF=0.643;MQ=59.46;MQRankSum=-1.388;QD=12.54;ReadPosRankSum=2.26;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,56:56:99:.:.:2051,181,0:.	4	5	5	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	667.98	41	chr16	1397281	.	G	*	667.98	.	AC=13;AF=0.382;AN=34;DP=1054;ExcessHet=0.0009;FS=0;InbreedingCoeff=0.6222;MLEAC=14;MLEAF=0.412;MQ=59.33;QD=1.62;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,56:56:99:.:.:2051,181,0:.	9	5	3	2
chr16	2184794	2184794	G	C	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon14:c.C1399G:p.P467A	.	.	.	.	.	.	.	.	.	.	.	3644182	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.0197898405826	.	.	3.443e-05	0	0	0	0	5.852e-05	0	0	1.94e-05	3	154602	rs747303156	2.326e-05	2.257e-05	1.427e-05	3.259e-05	0.0004	1.683e-05	1.441e-05	6.825e-05	2.856e-05	0	0	0	0	0	0.0004	2.524e-05	3.534e-05	1.361e-05	1.97e-05	1.97e-05	2.568e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.356	0.12070	T	0.961	0.02542	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.999833	0.20152	N	0.74	0.18910	N	-0.14	0.65006	T	-1.53	0.37178	N	0.126	0.11912	-0.9506	0.40868	T	0.125	0.42924	T	9	0.03356889	0.01537	T	0.01979	0.42241	T	0.102	0.29158	.	.	0.485221517782	0.48155	0.2992959035331324	0.29842	0.271202250786	0.29639	0.367006182671	0.20401	T	0.010569	0.09530	T	-0.323282	0.06633	T	-0.518133	0.20484	T	0.0400768804353165	0.03704	T	0.636736	0.25039	T	0.033704236	0.03642	0.038862117	0.03850	0.033704236	0.03641	0.038862117	0.03849	-7.106	0.54804	T	.	.	0.048	0.00094	B	.	.	0.531088	0.08997	5.780	0.20375083889147977	0.00730	0.07869	0.13860	N	AEFBI	0.092445	0.18715	N	-1.12602944343334	0.06184	0.2839642	-1.16836034350242	0.06445	0.3102379	0.0109389345464471	0.12105	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.567339	0.31927	0	.	.	4.92	-2.89	0.05326	0.022000	0.13402	0.916000	0.22667	0.676000	0.76740	0.000000	0.06391	0.825000	0.27162	0.204000	0.22012	0.0755:0.4841:0.3165:0.1238	6.734	0.22587	654	0.62520	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1260.33	43	chr16	2184794	.	G	C	1260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.189;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.5;SOR=0.769	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1274,0,1497	18	0	1	0
chr16	2766143	2766143	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.C5615T:p.T1872I	.	425	1096	0	1	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0134273394559	.	0.000199681	6.593e-05	0	0	0	0	8.995e-05	0	0.0001	5.82e-05	9	154602	rs200333456	4.788e-05	4.788e-05	4.356e-05	5.225e-05	0.0012	3.86e-05	3.54e-05	0.0006	0.0004	0	0	3.826e-05	5.038e-05	0	0.0012	3.327e-05	0.0001	0.0002	2.626e-05	2.625e-05	3.854e-05	1.343e-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	.	.	.	0.066	0.44501	T	0.622	0.39964	P	0.149	0.34106	B	0.002330	0.36766	N	0.192706	0.841518	0.28624	N	0	0.06538	N	1.86	0.24285	T	-1.13	0.29114	N	0.383	0.42443	-1.0706	0.09282	T	0.032	0.13679	T	10	0.09181684	0.16116	T	0.013427	0.32827	T	0.112	0.31546	0.29	0.25081	0.383760037723	0.37989	0.20803893501099052	0.20719	.	.	0.60723310709	0.53925	T	0.23593	0.60330	T	-0.305411	0.08158	T	-0.416799	0.31442	T	0.0673451389941769	0.08273	T	0.817118	0.47377	T	0.2860349	0.51621	0.20541894	0.44711	0.2860349	0.51621	0.20541894	0.44710	-5.271	0.39655	T	.	.	0.336	0.55631	B	.	.	3.321861	0.45692	22.2	0.79313625079990302	0.12685	0.95351	0.64382	D	AEFDGBHCI	.	.	.	0.0210622767420287	0.42812	2.586748	0.169318431692452	0.48174	3.036995	0.999999726915035	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.34	5.34	0.75982	1.260000	0.32571	5.823000	0.50099	0.599000	0.40250	0.444000	0.26519	0.986000	0.30841	0.999000	0.91618	0.0:0.8293:0.1707:0.0	12.300	0.54187	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	7169.83	72	chr16	2766143	.	C	T	7169.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.43;DP=1855;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.41;SOR=0.661	GT:AD:DP:GQ:PL	0/1:178,134:312:99:3147,0,4670	17	0	2	0
chr16	2770683	2770683	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon14:c.C8215T:p.P2739S	.	430	996	89	7	0	103	0.0491647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	0.0023	0.00958466	0.0188	0.0018	0.0151	0	0	0.0053	0.025	0.0420	0.0049482	765	154602	rs138495768	0.0047	0.0047	0.0036	0.0058	0.0438	0.0046	0.0046	0.0394	0.0377	0.0007	0.0026	0.0042	2.763e-05	0.0001	0.0438	0.0025	0.0065	0.0388	0.0035	0.0035	0.0029	0.0041	0.0344	0.0032	0.0031	0.0301	0.0285	0.0006	0	0.0060	0.0026	0.0002	0	0.0306	0.0031	0.0066	0.0344	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000011	0.62929	D	0.000000	0.720634	0.33614	D	0.55	0.14455	N	0.33	0.58323	T	-1.53	0.37178	N	0.386	0.42737	-0.4492	0.70427	T	0.192	0.54389	T	10	0.007466644	0.00170	T	.	.	.	0.190	0.46781	.	.	0.595214673487	0.59199	0.12494821746765934	0.12420	.	.	0.456650614738	0.32852	T	0.215958	0.57798	T	-0.330918	0.06043	T	-0.219549	0.52781	T	0.0301538723058847	0.02013	T	0.748625	0.36937	T	0.36156985	0.57956	0.40821308	0.65145	0.36156985	0.57956	0.40821308	0.65145	-4.674	0.33088	T	.	.	0.131	0.28174	B	.	.	3.829761	0.55346	23.6	0.947188900019729	0.25389	0.82683	0.41877	D	AEFDGBHCI	0.632421	0.61304	D	0.504954797921864	0.67383	5.074224	0.538789430895942	0.70620	5.532223	0.999999999999159	0.74766	0.675202	0.55065	0	0.697927	0.68747	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	2.149000	0.41869	7.631000	0.62734	0.599000	0.40250	0.908000	0.31627	1.000000	0.68203	0.887000	0.42601	0.0:1.0:0.0:0.0	15.222	0.73011	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032753	0.005263	0.027624	0.044643	0.000000	0.051724	0.040625	0.046154	0.07895	3821.79	33	chr16	2770683	.	C	T	3821.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.357;DP=884;ExcessHet=0.3672;FS=13.505;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.009;SOR=0.969	GT:AD:DP:GQ:PL	0/1:53,54:107:99:1444,0,1427	16	0	3	0
chr16	2785405	2785405	C	G	exonic	PRSS33	.	nonsynonymous SNV	PRSS33:NM_001385462:exon5:c.G484C:p.V162L,PRSS33:NM_001385463:exon5:c.G484C:p.V162L,PRSS33:NM_001385464:exon5:c.G484C:p.V162L,PRSS33:NM_152891:exon5:c.G484C:p.V162L	.	419	1102	1	0	0	1	0.000453515	.	.	.	2369174	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.631	0.595019559568	.	.	0.0005	0	0	0	0	0.0008	0	0	3.88e-05	6	154602	rs769756854	5.128e-05	5.267e-05	5.318e-05	4.928e-05	0.0008	4.135e-05	3.772e-05	0.0002	0.0001	0	0	0	0	0	0.0008	5.673e-05	5.63e-05	1.568e-05	5.257e-05	5.253e-05	6.423e-05	4.035e-05	0.0001	2.557e-05	1.83e-05	2.847e-05	1.858e-05	2.412e-05	0	0.0001	0	0	0	0	7.351e-05	0	0	0.0	0.91255	D	0.012	0.63918	D	0.967	0.56408	D	0.838	0.60045	P	0.000115	0.50451	D	0.000000	0.950786	0.81001	D	1.135	0.28956	L	-1.78	0.83737	D	-2.78	0.58896	D	0.387	0.51940	0.289	0.87381	D	0.568	0.84345	D	10	0.5747701	0.65518	D	0.59502	0.96415	D	0.631	0.85821	0.682	0.81982	0.700495927226	0.69790	0.7967400683919147	0.79627	1.08659659648	0.77305	0.885655641556	0.94708	D	0.473434	0.84370	T	-0.0748647	0.40546	T	-0.148343	0.59391	T	0.604500293731689	0.36579	D	0.944206	0.78893	D	0.62954605	0.74274	0.7506882	0.85264	0.62954605	0.74275	0.7506882	0.85265	-10.577	0.77288	D	.	.	0.580	0.68031	P	.;.;.	.;.;.	4.166246	0.62610	24.5	0.99533008777493326	0.70025	0.91190	0.53037	D	AEFDBI	0.415567	0.48438	N	0.328674779614922	0.57624	3.930584	0.289663476964895	0.54934	3.657207	0.999998596335944	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.578056	0.29568	0	0.554799	0.18163	0	.	.	4.74	4.74	0.59717	1.619000	0.36575	3.176000	0.36634	0.526000	0.24426	0.676000	0.28402	1.000000	0.68203	0.010000	0.09038	0.0:1.0:0.0:0.0	15.247	0.73203	576	0.70006	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	347.33	19	chr16	2785405	.	C	G	347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.301;DP=622;ExcessHet=0;FS=1.455;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.22;SOR=0.893	GT:AD:DP:GQ:PL	0/1:15,14:29:99:361,0,444	18	0	1	0
chr16	3356400	3356400	G	C	exonic	OR2C1	.	nonsynonymous SNV	OR2C1:NM_012368:exon1:c.G460C:p.G154R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00887163989944	.	.	1.648e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs763177230	5.474e-06	5.472e-06	5.447e-06	5.502e-06	1.159e-05	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.229	0.25210	T	0.336	0.33356	B	0.197	0.36707	B	0.019329	0.27282	N	0.174779	0.926297	0.27172	N	1.815	0.47718	L	1.18	0.37746	T	-1.59	0.38345	N	0.365	0.40665	-1.0476	0.15073	T	0.055	0.23300	T	10	0.115225434	0.21702	T	0.008872	0.23390	T	0.124	0.34239	0.376	0.38994	0.482137172311	0.47843	0.405439167515628	0.40459	0.3514486837	0.36983	0.429358363152	0.29120	T	0.066601	0.32988	T	-0.0984841	0.36677	T	-0.363756	0.37617	T	0.242460576824279	0.22532	T	0.360464	0.08297	T	0.39266008	0.60220	0.39324412	0.64048	0.39266008	0.60221	0.39324412	0.64048	-7.4	0.56905	T	.	.	0.614	0.69436	P	.	.	2.456880	0.31646	18.80	0.99549471051545246	0.71023	0.21731	0.21504	N	AEFDBHCI	0.094946	0.19191	N	-0.450333179000725	0.23728	1.276291	-0.405157441121751	0.24844	1.36285	0.00431001422764292	0.10495	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.63	2.58	0.30011	-0.100000	0.10959	.	.	0.575000	0.29119	0.000000	0.06391	0.750000	0.26544	0.958000	0.51230	0.1044:0.0:0.5276:0.3679	4.914	0.13191	659	0.61982	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	.	.	.	.	.	.	.	.	0.02632	2217.33	228	chr16	3356400	.	G	C	2217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=2205;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.717;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,85:179:99:0|1:3356387_C_G:2231,0,2401:3356387	18	0	1	0
chr16	11391752	11391752	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon58:c.C8645T:p.A2882V	.	961	560	1	0	0	1	0.000892061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs995801883	4.908e-05	4.378e-05	3.859e-05	6.081e-05	0.0031	3.828e-05	3.471e-05	0.0016	0.0012	0	0	0	0	0	0.0031	4.022e-05	6.869e-05	0.0002	3.285e-05	3.283e-05	3.854e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049872965	0.04639	T	.	.	.	.	.	.	.	0.203808441222	0.19973	.	.	.	.	.	.	.	.	.	.	-0.381003	0.03071	T	-0.785061	0.02304	T	.	.	.	0.455954	0.13062	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.21728	B	.	.	-0.027736	0.04094	0.962	0.72526325184203	0.10004	0.04470	0.10080	N	AEFDBHCIJ	0.029827	0.02886	N	.	.	.	.	.	.	0.988788724666464	0.31627	0.554377	0.28877	0	0.547309	0.14657	0	0.459711	0.06710	0	0.567892	0.33627	0	.	.	4.35	1.09	0.19517	-0.354000	0.07731	-2.947000	0.03203	-0.292000	0.06281	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.5518:0.348:0.1002	6.728	0.22554	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	679.33	36	chr16	11391752	.	G	A	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.078;DP=897;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.457;SOR=0.779	GT:AD:DP:GQ:PL	0/1:31,26:57:99:693,0,836	18	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	3525.85	234	chr16	14582206	.	G	C	3525.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.534;DP=3197;ExcessHet=20.8569;FS=372.816;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.41;SOR=13.96	GT:AD:DP:GQ:PL	0/1:107,71:178:99:327,0,1646	4	0	15	0
chr16	15621779	15621779	C	G	exonic	MARF1	.	nonsynonymous SNV	MARF1:NM_001184998:exon12:c.G2593C:p.V865L,MARF1:NM_001184999:exon12:c.G2584C:p.V862L,MARF1:NM_014647:exon12:c.G2593C:p.V865L	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	.	0.0046	0.0105831	0.0082	0.0015	0.0023	0.0204	0.0097	0.0042	0.0078	0.0254	0.0074385	1150	154602	rs35438466	0.0050	0.0050	0.0044	0.0057	0.0226	0.0049	0.0049	0.0217	0.0214	0.0015	0.0038	0.0093	0.0152	0.0118	0.0031	0.0030	0.0068	0.0226	0.0053	0.0053	0.0043	0.0063	0.0261	0.0050	0.0049	0.0224	0.0210	0.0013	0	0.0107	0.0089	0.0125	0.0102	0.0102	0.0032	0.0166	0.0261	0.036	0.43393	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	1.79	0.46772	L	.	.	.	-1.9	0.44852	N	0.736	0.77319	-0.1834	0.78095	T	0.425	0.76890	T	9	0.009193301	0.00208	T	.	.	.	0.503	0.78538	.	.	0.709639334322	0.70710	0.6914425524909832	0.69084	1.40444009116	0.85281	0.590798377991	0.51606	T	0.102653	0.41057	T	0.0218328	0.54630	T	0.277509	0.86991	D	0.0101726885343758	0.00137	T	0.977602	0.92384	D	0.35712343	0.57617	0.33515644	0.59333	0.35712343	0.57617	0.33515644	0.59332	-10.954	0.79477	D	.	.	0.733	0.77306	P	.;.;.;.	.;.;.;.	4.668810	0.74591	26.2	0.99840118404017464	0.92057	0.98956	0.89144	D	AEFBI	0.813579	0.73601	D	0.848405812616768	0.89018	9.801898	0.829563911154343	0.91767	11.05757	0.999999999999976	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.72	5.72	0.89380	7.141000	0.76920	7.694000	0.65937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:1.0:0.0:0.0	19.896	0.96962	664	0.61548	RNA recognition motif domain|RNA recognition motif domain|Marf1, RNA recognition motif 2;RNA recognition motif domain|RNA recognition motif domain|Marf1, RNA recognition motif 2;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.010101	0.000000	0.000000	0.000000	0.000000	0.012195	0.000000	0.02632	1722.33	38	chr16	15621779	.	C	G	1722.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.743;DP=759;ExcessHet=0;FS=3.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.147;SOR=0.481	GT:AD:DP:GQ:PL	0/1:64,74:138:99:1736,0,1538	18	0	1	0
chr16	19067678	19067678	-	GGC	exonic	COQ7	.	nonframeshift insertion	COQ7:NM_001370490:exon1:c.14_15insGGC:p.A9_P10insA,COQ7:NM_016138:exon1:c.14_15insGGC:p.A9_P10insA	.	0	225	1	0	0	1	0.00221729	.	.	.	1271376	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0061	0.00698882	0.0020	0.0209	0.0016	0.0001	0	0.0002	0.0012	0	0.0001537	4	26028	rs531281193	0.0008	0.0008	0.0009	0.0007	0.0234	0.0008	0.0007	0.0221	0.0215	0.0234	0.0019	0	5.043e-05	1.9e-05	0.0012	0.0002	0.0015	4.643e-05	0.0069	0.0069	0.0070	0.0067	0.0235	0.0065	0.0064	0.0223	0.0218	0.0235	0	0.0031	0	0	0	0.0034	0.0002	0.0028	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001042	0.010526	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	800.29	34	chr16	19067678	.	G	GGGC	800.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.411;DP=657;ExcessHet=0;FS=2.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.52;ReadPosRankSum=-1.005;SOR=0.869	GT:AD:DP:GQ:PL	0/1:20,21:41:99:814,0,755	18	0	1	0
chr16	22131281	22131281	T	C	splicing	VWA3A	NM_173615:exon18:c.1727+2T>C	.	.	.	434	1087	1	0	0	1	0.00045977	0.9865	0.624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00499201	0.0010	0.0109	0.0009	0	0	1.535e-05	0	0	0.0009767	151	154602	rs80075952	0.0003	0.0003	0.0003	0.0002	0.0085	0.0002	0.0002	0.0076	0.0073	0.0085	0.0006	0	0	0	0.0005	1.619e-05	0.0007	3.48e-05	0.0030	0.0031	0.0032	0.0029	0.0101	0.0028	0.0027	0.0093	0.0090	0.0101	0	0.0022	0	0	0	0	2.941e-05	0.0043	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0255798	0.48056	T	0.199875	0.83120	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.845376	0.79146	27.0	0.9933783294926718	0.60051	0.91174	0.53005	D	AEFBI	.	.	.	0.990949582737244	0.95460	13.64021	0.82336574327792	0.91367	10.85159	0.168827308540147	0.17705	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.058706	0.01089	0	0.883639	0.55100	5.17	5.17	0.70848	5.257000	0.65294	7.829000	0.70041	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:0.0:1.0	13.886	0.63210	452	0.79239	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	973.33	34	chr16	22131281	.	T	C	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.169;DP=686;ExcessHet=0;FS=3.327;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-1.266;SOR=0.875	GT:AD:DP:GQ:PL	0/1:28,39:67:99:987,0,689	18	0	1	0
chr16	22534217	22534217	G	A	exonic	NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon7:c.G1234A:p.A412T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00338373390256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.881e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.31532	T	0.206	0.27056	T	0.963	0.55692	D	0.966	0.71341	D	.	.	.	.	0.999996	0.08975	N	.	.	.	2.21	0.19860	T	-0.72	0.20358	N	0.076	0.05037	-1.0193	0.23943	T	0.049	0.20987	T	7	0.064985156	0.08700	T	0.003384	0.07572	T	0.101	0.28911	0.119	0.02647	0.0138822411134	0.00435	0.006215308526393826	0.00590	.	.	.	.	.	0.015388	0.12914	T	-0.261976	0.12669	T	-0.614087	0.11656	T	0.272092044353485	0.23837	T	0.710029	0.44782	T	0.05517465	0.10687	0.10340941	0.24810	0.05517465	0.10686	0.10340941	0.24809	-10.085	0.74419	D	.	.	0.378	0.58334	A	.;.;.;.;.;.	.;.;.;.;.;.	1.344464	0.17516	13.21	0.98855483244082565	0.47373	0.00528	0.02449	N	AEFI	0.029514	0.02799	N	-0.9165167410091	0.10455	0.4997259	-1.08218114600242	0.08051	0.3941975	1.64561268609402E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.956000	0.28799	-15.176000	0.00368	0.128000	0.17653	0.041000	0.21027	0.000000	0.08366	0.004000	0.06068	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	56.33	40	chr16	22534217	.	G	A	56.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.888;DP=716;ExcessHet=0;FS=4.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=24.57;MQRankSum=-1.002;QD=0.69;ReadPosRankSum=0.945;SOR=1.686	GT:AD:DP:GQ:PL	0/1:70,12:82:70:70,0,1761	18	0	1	0
chr16	23355489	23355489	G	A	exonic	SCNN1B	.	nonsynonymous SNV	SCNN1B:NM_000336:exon4:c.G776A:p.R259Q	Bronchiectasis with or without elevated sweat chloride 1, Autosomal dominant;Liddle syndrome, Autosomal dominant;Pseudohypoaldosteronism, type I, Autosomal recessive	.	.	.	.	.	.	.	1.0000	1.0	.	2103296	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.270	.	.	.	2.487e-05	0	0	0	0	1.508e-05	0	0.0001	1.94e-05	3	154602	rs369198235	2.052e-05	2.121e-05	1.634e-05	2.475e-05	0.0001	1.456e-05	1.264e-05	6.246e-05	4.757e-05	0	0	0	2.519e-05	0	0	1.529e-05	3.312e-05	0.0001	5.259e-05	5.254e-05	3.856e-05	6.727e-05	0.0002	2.558e-05	1.831e-05	8e-06	2.99e-06	4.826e-05	0.0044	0	0	0	0	0	1.47e-05	0	0.0002	0.014	0.53172	D	0.046	0.49120	D	0.994	0.66517	D	0.726	0.55126	P	0.000035	0.55875	D	0.073905	1	0.81001	D	2.125	0.59049	M	-0.02	0.62918	T	-1.61	0.42001	N	0.453	0.51494	-0.4329	0.70971	T	0.314	0.68370	T	10	0.26863357	0.44383	T	0.06358	0.69013	D	0.270	0.58507	0.625	0.76028	0.876650780047	0.87544	0.6848690318161298	0.68425	0.501101001153	0.48508	0.338772237301	0.16253	T	0.251396	0.62164	T	-0.163907	0.26159	T	-0.270564	0.47762	T	0.884905695915222	0.53518	D	0.865513	0.56452	D	0.45619228	0.64433	0.21974245	0.46725	0.45619228	0.64434	0.21974245	0.46724	-5.045	0.39406	T	.	.	0.084	0.14933	B	.;.;.;.	.;.;.;.	6.397988	0.95144	34	0.99922898411444605	0.98852	0.89599	0.50166	D	AEFBI	0.704111	0.65993	D	0.570301058161712	0.71326	5.633999	0.54689117855443	0.71179	5.615893	0.872119794648791	0.25439	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	4.886000	0.62841	9.769000	0.81545	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.678000	0.33484	0.0944:0.0:0.9056:0.0	11.088	0.47317	867	0.32089	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	964.33	33	chr16	23355489	.	G	A	964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4;DP=737;ExcessHet=0;FS=5.946;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-1.158;SOR=1.384	GT:AD:DP:GQ:PL	0/1:61,36:97:99:978,0,1534	18	0	1	0
chr16	23757208	23757208	G	A	exonic	CHP2	.	nonsynonymous SNV	CHP2:NM_022097:exon6:c.G422A:p.R141H	.	424	1085	9	4	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00796955258838	0.0008	0.000399361	0.0013	0.0005	0.0012	0	0	0.0014	0.0022	0.0025	0.0011902	184	154602	rs112597134	0.0010	0.0010	0.0010	0.0011	0.0054	0.0010	0.0010	0.0039	0.0034	0.0004	0.0008	0.0095	0.0002	0.0001	0.0054	0.0008	0.0018	0.0027	0.0008	0.0008	0.0008	0.0008	0.0031	0.0007	0.0007	0.0019	0.0016	0.0002	0	0.0007	0.0087	0	0.0002	0.0068	0.0008	0.0033	0.0031	0.423	0.09746	T	0.367	0.16619	T	0.693	0.41684	P	0.097	0.30390	B	0.001397	0.39175	N	0.166426	0.999803	0.49283	D	1.88	0.49984	L	1.5	0.31205	T	-1.07	0.27876	N	0.836	0.83167	-1.0683	0.09791	T	0.066	0.27156	T	10	0.021376401	0.00510	T	0.00797	0.21136	T	0.114	0.32008	.	.	0.391000631824	0.38715	0.45384545533691345	0.45302	0.807526858809	0.66562	0.610252976418	0.54351	T	0.061301	0.31617	T	-0.4159	0.01817	T	-0.374803	0.36327	T	0.050442188358597	0.05577	T	0.956704	0.83523	D	0.18809146	0.40293	0.12120684	0.29247	0.18809146	0.40293	0.12120684	0.29246	-4.195	0.26679	T	.	.	0.127	0.26855	B	.	.	4.846618	0.79174	27.1	0.99903631853452857	0.97502	0.95828	0.66327	D	AEFDBI	0.887967	0.82066	D	0.33930929480666	0.58177	3.988564	0.409882426246787	0.62180	4.429136	0.998613265812217	0.37309	0.549168	0.22868	0	0.627178	0.54094	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	5.21	4.26	0.49832	9.469000	0.96838	10.552000	0.83426	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0838:0.0:0.9162:0.0	12.0	0.52516	872	0.31118	EF-hand domain|EF-hand domain|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	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.05263	1568.83	46	chr16	23757208	.	G	A	1568.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.12;DP=807;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.806;SOR=0.736	GT:AD:DP:GQ:PL	0/1:54,38:92:99:991,0,1367	17	0	2	0
chr16	24939524	24939524	C	T	exonic	ARHGAP17	.	nonsynonymous SNV	ARHGAP17:NM_001006634:exon17:c.G1564A:p.A522T	.	424	1009	86	3	0	92	0.0436019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0042	0.00479233	0.0078	0.0012	0.0039	0.0034	0.0014	0.0048	0.0151	0.0298	0.005388	833	154602	rs145791095	0.0050	0.0051	0.0043	0.0058	0.0296	0.0050	0.0049	0.0260	0.0246	0.0009	0.0049	0.0052	0.0016	0.0007	0.0296	0.0037	0.0066	0.0254	0.0041	0.0041	0.0037	0.0046	0.0220	0.0039	0.0038	0.0186	0.0173	0.0007	0	0.0060	0.0066	0.0021	0.0008	0.0306	0.0048	0.0104	0.0220	0.149	0.24758	T	0.306	0.19972	T	0.112	0.26290	B	0.01	0.14941	B	0.000482	0.43931	D	0.000000	0.984898	0.81001	D	0.835	0.21042	L	1.98	0.21865	T	-1.04	0.27259	N	0.234	0.26354	-1.0936	0.04959	T	0.031	0.13374	T	10	0.0037225187	0.00069	T	.	.	.	0.038	0.09825	.	.	0.322865848456	0.31899	0.30575841589917707	0.30488	0.0463152719668	0.05031	0.466221213341	0.34163	T	0.021479	0.16719	T	-0.577036	0.00201	T	-0.582724	0.14303	T	0.00726477508042566	0.00083	T	0.868913	0.57225	D	0.033290282	0.03517	0.05217492	0.08543	0.033290282	0.03517	0.05217492	0.08542	-3.364	0.14576	T	.	.	0.088	0.11845	B	.	.	2.853543	0.37683	20.6	0.99472172580248386	0.66419	0.80469	0.40098	D	AEFDBCI	0.103871	0.20799	N	-0.230510946799875	0.31887	1.792617	-0.143599984541642	0.33655	1.92746	0.021104402275387	0.13320	0.706548	0.73137	0	0.379588	0.06130	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.0	3.05	0.34272	2.965000	0.48892	4.856000	0.45423	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.839000	0.39591	0.0:0.7263:0.0:0.2737	6.989	0.23922	637	0.64373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028254	0.010204	0.027174	0.038012	0.000000	0.025862	0.036810	0.022727	0.07895	5963.79	33	chr16	24939524	.	C	T	5963.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.816;DP=1014;ExcessHet=0.3672;FS=1.135;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.456;SOR=0.591	GT:AD:DP:GQ:PL	0/1:69,72:141:99:1873,0,1857	16	0	3	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	533.97	122	chr16	29485668	.	C	*	533.97	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.51;DP=2515;ExcessHet=20.8569;FS=6.844;InbreedingCoeff=-0.7273;MLEAC=13;MLEAF=0.382;MQ=28.71;MQRankSum=-1.012;QD=0.28;ReadPosRankSum=-0.682;SOR=0.237	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,58:164:99:0|1:29485610_ACACACTC_A:1248,0,3935:29485610	5	0	12	2
chr16	30582735	30582735	C	A	exonic	ZNF785	.	nonsynonymous SNV	ZNF785:NM_152458:exon3:c.G1043T:p.G348V	.	429	1077	16	0	0	16	0.00737327	.	.	.	2427630	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.00412878633808	.	0.000199681	0.0005	0	0.0003	0	0	0.0006	0	0.0009	0.0003687	57	154602	rs138958454	0.0003	0.0003	0.0002	0.0004	0.0082	0.0003	0.0003	0.0063	0.0057	8.973e-05	0.0002	0.0011	0	1.88e-05	0.0082	0.0002	0.0006	0.0011	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0002	0.0002	0	0	6.53e-05	0	0.0002	0	0.0034	0.0003	0.0014	0.0006	0.192	0.20988	T	0.239	0.24767	T	0.386	0.34500	B	0.165	0.46123	B	.	.	.	.	0.999988	0.18198	N	0.49	0.13296	N	2.3	0.16953	T	-1.95	0.45222	N	0.255	0.28849	-0.9526	0.40520	T	0.034	0.14509	T	9	0.029966295	0.01123	T	0.004129	0.09900	T	0.052	0.14661	.	.	0.0716867268079	0.06686	0.04366907950797636	0.04311	1.1161536407	0.78175	0.381710320711	0.22500	T	0.018969	0.15199	T	-0.483231	0.00708	T	-0.543609	0.17943	T	0.0342564937246881	0.02681	T	0.749125	0.37025	T	0.058755286	0.11860	0.060200617	0.11427	0.058755286	0.11859	0.060200617	0.11426	-7.771	0.59713	D	.	.	0.335	0.61295	B	.;.	.;.	0.767927	0.11380	7.992	0.94824125252135383	0.25597	0.05953	0.11911	N	AEFBI	0.097057	0.19584	N	-1.07391625598146	0.07127	0.3301553	-1.11003738978073	0.07508	0.3654615	0.00329662087455733	0.10040	0.562547	0.31514	0	0.577304	0.33150	0	0.465395	0.07113	1	0.635551	0.53088	0	.	.	4.23	-0.275	0.12268	0.831000	0.27129	-1.224000	0.05978	-0.926000	0.02173	0.278000	0.25122	0.000000	0.08366	0.062000	0.16114	0.0:0.4476:0.4617:0.0907	8.908	0.34694	176	0.93188	.;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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1433.33	33	chr16	30582735	.	C	A	1433.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.552;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.797;SOR=0.743	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1447,0,1498	18	0	1	0
chr16	31360327	31360327	C	G	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon8:c.C725G:p.A242G,ITGAX:NM_001286375:exon8:c.C725G:p.A242G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0292488694906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.757e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.21144	T	0.139	0.33666	T	0.066	0.23586	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	-1.67	0.82806	D	-1.69	0.40274	N	0.088	0.09207	-0.6345	0.63380	T	0.401	0.75252	T	9	0.10642916	0.19721	T	0.029249	0.51792	D	0.101	0.28911	0.418	0.45873	0.631602580773	0.62858	0.580785584084518	0.58007	0.215413561457	0.24069	0.279822796583	0.07467	T	0.211377	0.57213	T	-0.102727	0.35974	T	-0.385336	0.35098	T	0.0759893885118709	0.09467	T	0.432057	0.11757	T	0.32753953	0.55269	0.21408725	0.45945	0.32753953	0.55269	0.21408725	0.45944	-5.329	0.40229	T	.	.	0.111	0.23430	B	.;.	.;.	1.367027	0.17764	13.36	0.90572996767062097	0.19827	0.16201	0.19278	N	AEFDBI	0.108268	0.21544	N	-0.724559140907063	0.15332	0.7717987	-0.765275220444868	0.15348	0.8067251	0.999857510691531	0.44174	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.73	2.6	0.30173	0.727000	0.25667	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.162:0.6806:0.1574:0.0	9.258	0.36757	287	0.88635	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	114.12	65	chr16	31360327	.	C	G	114.12	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-0.72;DP=907;ExcessHet=0.119;FS=150.165;InbreedingCoeff=-0.136;MLEAC=2;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=-0.327;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,7:57:21:0|1:31360327_C_G:21,0,1709:31360327	12	0	2	5
chr16	57724815	57724815	T	C	exonic	DRC7	.	nonsynonymous SNV	DRC7:NM_001289163:exon11:c.T1543C:p.S515P,DRC7:NM_032269:exon12:c.T1738C:p.S580P,DRC7:NM_001289162:exon13:c.T1738C:p.S580P	.	425	1086	10	1	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00574195076787	0.0032	0.00199681	0.0026	0.0005	0.0009	0	0.0002	0.0043	0.0012	0.0007	0.0026196	405	154602	rs115241876	0.0034	0.0034	0.0033	0.0035	0.0061	0.0033	0.0033	0.0045	0.0039	0.0008	0.0013	0.0095	0	0.0005	0.0061	0.0039	0.0039	0.0007	0.0026	0.0026	0.0026	0.0025	0.0040	0.0024	0.0023	0.0036	0.0035	0.0007	0	0.0026	0.0092	0	0.0005	0.0102	0.0040	0.0043	0.0006	0.094	0.31834	T	0.296	0.20615	T	0.966	0.60733	D	0.735	0.57754	P	0.600808	0.10960	N	0.814347	1	0.08975	N	.	.	.	3.03	0.10291	T	-2.16	0.48850	N	0.412	0.45331	-1.0643	0.10713	T	0.038	0.16203	T	10	0.0039655864	0.00076	T	0.005742	0.14892	T	0.119	0.33137	.	.	0.213573922156	0.20996	0.6133189093682226	0.61263	0.643341671489	0.57872	0.387464344501	0.23312	T	0.02847	0.20618	T	-0.486834	0.00676	T	-0.472087	0.25293	T	0.0240579176413542	0.01153	T	0.725427	0.34027	T	0.2693511	0.50007	0.35582975	0.61104	0.2693511	0.50006	0.35582975	0.61103	-3.349	0.14378	T	.	.	0.137	0.35477	B	.;.;.	.;.;.	2.735123	0.35810	20.0	0.99731537612296239	0.82833	0.11049	0.16373	N	AEFI	0.167361	0.29403	N	0.0622445200864493	0.44707	2.739938	-0.0591651065301367	0.37096	2.167	0.00394398692654133	0.10351	0.568482	0.32641	0	0.573078	0.20572	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.29	4.09	0.47038	0.126000	0.15597	2.273000	0.31844	0.665000	0.62972	0.000000	0.06391	0.996000	0.32793	0.684000	0.33659	0.1385:0.0:0.2281:0.6334	6.491	0.21315	873	0.30802	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.005848	0.000000	0.017241	0.009146	0.003788	0.05263	3800.83	35	chr16	57724815	.	T	C	3800.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.01;DP=894;ExcessHet=0.119;FS=0.461;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=1.87;SOR=0.727	GT:AD:DP:GQ:PL	0/1:69,83:152:99:2253,0,1809	17	0	2	0
chr16	66392357	66392357	C	A	exonic	CDH5	.	nonsynonymous SNV	CDH5:NM_001795:exon7:c.C1191A:p.D397E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.699	0.248409330383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999993	0.58761	D	3.695	0.94570	H	-1.05	0.76690	T	-3.58	0.69118	D	0.839	0.83473	0.336	0.88119	D	0.671	0.88590	D	9	0.974392	0.97148	D	0.248409	0.89009	D	0.699	0.89145	0.869	0.96265	0.823520775211	0.82185	0.8334020186628915	0.83299	0.666063249516	0.59173	0.537447214127	0.44084	T	0.559537	0.85231	D	0.378492	0.88612	D	0.305901	0.88467	D	0.979908816777994	0.73075	D	0.784022	0.42156	T	0.4976942	0.66959	0.48019907	0.69895	0.4976942	0.66960	0.48019907	0.69896	-9.396	0.70210	D	.	.	0.895	0.88466	P	.;.;.	.;.;.	2.734095	0.35793	19.99	0.99564613156493509	0.72014	0.93133	0.57412	D	AEFDBCI	0.596295	0.59052	D	0.454593069453107	0.64464	4.701599	0.286451304098421	0.54747	3.638864	0.991733951200214	0.32591	0.67177	0.52595	0	0.573888	0.26702	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	5.73	2.71	0.31092	0.796000	0.26646	0.822000	0.21862	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.016000	0.10718	0.0:0.7004:0.0:0.2996	8.332	0.31354	632	0.64850	Cadherin-like|Cadherin-like;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	.	.	.	.	.	.	.	.	0.02632	2213.33	33	chr16	66392357	.	C	A	2213.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.851;DP=760;ExcessHet=0;FS=0.758;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.185;SOR=0.783	GT:AD:DP:GQ:PL	0/1:64,78:142:99:2227,0,1806	18	0	1	0
chr16	67301868	67301868	T	A	exonic	KCTD19	.	nonsynonymous SNV	KCTD19:NM_001100915:exon5:c.A698T:p.D233V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.0329379048541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.991	0.79672	D	0.000290	0.46274	D	0.152859	0.999942	0.51968	D	1.04	0.26193	L	-0.05	0.63403	T	-1.46	0.35792	N	0.873	0.87049	-0.5535	0.66653	T	0.261	0.63219	T	10	0.7813989	0.77884	D	0.032938	0.54627	D	0.318	0.64008	0.385	0.40460	0.829068798349	0.82745	0.8639013896984344	0.86354	1.15178904518	0.79224	0.637068748474	0.58148	T	0.07885	0.35989	T	0.282103	0.81496	D	0.167445	0.81257	D	0.942141473293304	0.61605	D	0.860114	0.55285	D	0.23198014	0.45978	0.24370831	0.49820	0.23198014	0.45978	0.24370831	0.49819	-7.141	0.55057	T	.	.	0.355	0.56882	A	.	.	4.662548	0.74439	26.2	0.99354237115391519	0.60738	0.84449	0.43531	D	AEFDBI	0.383297	0.46485	N	0.515540761146906	0.68008	5.158443	0.563617590549699	0.72351	5.796061	0.999996307154268	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	6.17	5.02	0.66742	3.279000	0.51374	6.206000	0.54953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1561:0.8439	10.966	0.46627	36	0.98055	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	994.33	34	chr16	67301868	.	T	A	994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=719;ExcessHet=0;FS=1.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=1.37;SOR=0.956	GT:AD:DP:GQ:PL	0/1:53,39:92:99:1008,0,1305	18	0	1	0
chr16	71977263	71977263	G	C	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon11:c.C1732G:p.L578V	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00179712	0.0028	0.0014	0	0	0.0037	0.0045	0.0165	0.0011	0.0010931	169	154602	rs139831076	0.0047	0.0047	0.0048	0.0046	0.0054	0.0046	0.0046	0.0053	0.0052	0.0005	0.0041	0.0027	5.608e-05	0.0033	0.0034	0.0054	0.0043	0.0011	0.0037	0.0037	0.0038	0.0035	0.0061	0.0034	0.0033	0.0056	0.0054	0.0010	0	0.0036	0.0017	0	0.0029	0	0.0061	0.0024	0.0012	.	.	.	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.34659	.	.	.	.	.	.	.	0.01028201	0.00229	T	.	.	.	.	.	.	.	0.144782658237	0.14088	0.38083282148693404	0.37998	.	.	0.379869073629	0.22239	T	0.085117	0.37429	T	-0.239699	0.15387	T	-0.11378	0.62309	T	.	.	.	0.510849	0.16306	T	0.10807859	0.25556	0.28520867	0.54523	0.10807859	0.25556	0.28520867	0.54522	-8.603	0.65109	D	.	.	0.208	0.43558	B	.	.	2.638330	0.34320	19.59	0.75063295232350136	0.10931	0.88356	0.48246	D	AEFDI	.	.	.	.	.	.	.	.	.	0.0338628262973798	0.14126	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.623454	0.41225	5.1	4.15	0.47978	2.721000	0.46930	3.660000	0.39404	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.367000	0.26044	0.0895:0.0:0.9105:0.0	11.300	0.48536	91	0.96221	.	.	.	.	.	.	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	0.001222	0.005319	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	3553.83	34	chr16	71977263	.	G	C	3553.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.128;DP=916;ExcessHet=0.119;FS=6.199;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.761;SOR=1.073	GT:AD:DP:GQ:PL	0/1:77,62:139:99:1615,0,2101	17	0	2	0
chr16	72132750	72132750	G	C	exonic	PMFBP1	.	nonsynonymous SNV	PMFBP1:NM_031293:exon10:c.C1445G:p.A482G,PMFBP1:NM_001160213:exon11:c.C1010G:p.A337G	.	.	.	.	.	.	.	.	0.2525	0.36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00934259057245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.32929	T	0.211	0.33780	T	0.386	0.34500	B	0.178	0.35748	B	0.009650	0.30263	N	0.156008	1	0.81001	D	1.65	0.42232	L	2.49	0.14531	T	-0.24	0.45042	N	0.164	0.38950	-0.9958	0.31082	T	0.019	0.08079	T	10	0.059751987	0.10236	T	0.009343	0.24506	T	0.104	0.29647	0.028	0.00004	0.0482279557977	0.04254	0.0341137305118173	0.03359	0.159084507168	0.17954	0.2944008708	0.09569	T	0.04135	0.25830	T	-0.23253	0.16316	T	-0.57179	0.15286	T	0.309188545380948	0.25381	T	0.39976	0.34942	T	0.070024274	0.15391	0.11044102	0.26629	0.070024274	0.15391	0.11044102	0.26629	-5.966	0.47109	T	.	.	0.134	0.43544	B	.;.;.	.;.;.	3.326413	0.45769	22.2	0.97372309813929347	0.33627	0.12203	0.17124	N	AEFDBI	0.093375	0.18893	N	-0.44803841876955	0.23806	1.281073	-0.378480501921182	0.25640	1.411258	0.00113557024511462	0.08261	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.530356	0.10902	0	.	.	5.48	3.17	0.35510	1.016000	0.29578	2.090000	0.30543	0.676000	0.76740	0.001000	0.13787	0.015000	0.20450	0.957000	0.51019	0.1838:0.0:0.8162:0.0	10.520	0.44099	137	0.94565	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1247.33	35	chr16	72132750	.	G	C	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.325;DP=721;ExcessHet=0;FS=4.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.267;SOR=1.356	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1261,0,1310	18	0	1	0
chr16	72788017	72788017	T	C	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon9:c.A7517G:p.K2506R,ZFHX3:NM_006885:exon10:c.A10259G:p.K3420R	.	417	1099	6	0	0	6	0.00272232	.	.	.	797383	not_provided|ZFHX3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.322	.	0.0046	0.00319489	0.0043	0.0008	0.0019	0	0.0045	0.0068	0.0079	0.0002	0.0044437	687	154602	rs117523752	0.0059	0.0059	0.0061	0.0057	0.0070	0.0058	0.0057	0.0068	0.0068	0.0008	0.0033	0.0025	2.52e-05	0.0046	0.0024	0.0070	0.0050	0.0003	0.0042	0.0042	0.0043	0.0041	0.0071	0.0039	0.0038	0.0066	0.0064	0.0010	0	0.0039	0.0017	0	0.0037	0	0.0071	0.0043	0.0004	0.005	0.63226	D	0.187	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.000102	0.50451	D	0.000000	0.999919	0.51042	D	1.87	0.49600	L	-2.25	0.87272	D	-1.15	0.31778	N	0.125	0.11769	-0.4299	0.71070	T	0.376	0.73408	T	10	0.007080674	0.00161	T	.	.	.	0.322	0.64420	.	.	0.128874641272	0.12493	0.07071591449322331	0.07008	0.0763688091822	0.08569	0.541627585888	0.44676	T	0.102888	0.41104	T	-0.393312	0.02561	T	-0.333317	0.41098	T	0.0323492388846104	0.02364	T	0.739826	0.35853	T	0.11991955	0.28228	0.18092273	0.40922	0.11682754	0.27551	0.15798837	0.36915	-5.078	0.37674	T	.	.	0.093	0.14108	B	.;.;.	.;.;.	3.682670	0.52423	23.2	0.89794482354043625	0.19107	0.89509	0.50019	D	AEFDGBCI	.	.	.	-0.224417341581947	0.32133	1.809018	-0.0942826417267529	0.35627	2.063385	0.999999800353153	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.503968	0.08637	0	0.627883	0.49187	0	.	.	4.3	3.18	0.35615	4.985000	0.63570	4.953000	0.46294	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0852:0.0:0.9148	9.791	0.39875	191	0.92559	.;.;.	.	.	.	.	rs117523752	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.005051	0.001359	0.002924	0.000000	0.008621	0.006098	0.003788	0.02632	2910.33	35	chr16	72788017	.	T	C	2910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.445;DP=1057;ExcessHet=0;FS=4.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.498;SOR=0.457	GT:AD:DP:GQ:PL	0/1:113,114:227:99:2924,0,2956	18	0	1	0
chr16	84439438	84439438	G	A	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001291454:exon10:c.G670A:p.V224I,ATP2C2:NM_001286527:exon13:c.G1123A:p.V375I,ATP2C2:NM_014861:exon13:c.G1123A:p.V375I	.	429	1083	10	0	0	10	0.00459559	.	.	.	2817861	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.483	.	0.0011	0.00239617	0.0023	0.0002	0.0007	0	0.0002	0.0015	0.0022	0.0101	0.0020763	321	154602	rs202026876	0.0019	0.0019	0.0016	0.0022	0.0096	0.0018	0.0018	0.0091	0.0089	0.0001	0.0009	0.0001	0	0.0004	0.0035	0.0016	0.0016	0.0096	0.0014	0.0014	0.0013	0.0015	0.0085	0.0012	0.0012	0.0064	0.0057	0.0002	0	0.0016	0	0.0002	0.0004	0.0102	0.0019	0.0014	0.0085	0.019	0.51248	D	0.04	0.50809	D	0.942	0.52977	P	0.684	0.53582	P	0.000641	0.42656	N	0.098441	0.999351	0.46766	D	1.775	0.45938	L	-4.04	0.96465	D	-0.84	0.22944	N	0.278	0.36569	0.777	0.94125	D	0.870	0.95681	D	10	0.011537969	0.00252	T	.	.	.	0.483	0.77271	.	.	0.748622703697	0.74635	0.9253309998958084	0.92510	.	.	0.466936081648	0.34260	T	0.042003	0.26043	T	-0.222272	0.17684	T	-0.0842356	0.64594	T	0.0361927272691662	0.03015	T	0.890711	0.63722	D	0.058981743	0.11934	0.210555	0.45447	0.058981743	0.11933	0.210555	0.45446	-7.002	0.54048	T	0.18565392818032408	0.24134	0.081	0.08129	B	.;.	.;.	3.344372	0.46102	22.2	0.9980765982653661	0.89174	0.94271	0.60637	D	AEFDBIJ	0.530125	0.55095	D	0.20310984972196	0.51348	3.316911	0.149156179287798	0.47096	2.945144	0.999990734878231	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.91	3.95	0.44952	4.224000	0.58391	5.013000	0.46685	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.280000	0.24017	0.0847:0.0:0.9153:0.0	12.050	0.52798	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2921.33	40	chr16	84439438	.	G	A	2921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=3110;ExcessHet=0;FS=6.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.568;SOR=0.959	GT:AD:DP:GQ:PL	0/1:117,111:228:99:2935,0,2882	18	0	1	0
chr16	88436039	88436039	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8569C:p.V2857L	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.290819134338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.88	0.23808	N	0.098	0.07949	-1.0330	0.19490	T	0.051	0.21572	T	9	0.033857733	0.01574	T	0.290819	0.90557	D	0.047	0.12962	0.062	0.00241	0.0482279557977	0.04254	0.05778466525355656	0.05719	.	.	0.34829890728	0.17672	T	0.013528	0.11682	T	-0.315388	0.07282	T	-0.69081	0.06343	T	0.0342345647513866	0.02677	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.38480	B	.;.	.;.	-0.302853	0.02606	0.323	0.36900263803691985	0.02400	0.09517	0.15255	N	AEFDBI	0.090526	0.18343	N	-1.38570647527791	0.02771	0.1228472	-1.41714451955664	0.03080	0.1429999	0.813156251799272	0.24391	0.646311	0.45356	0	0.547309	0.14657	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	5.28	-3.42	0.04521	-0.197000	0.09519	-0.427000	0.09246	-0.673000	0.04287	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.4266:0.2183:0.232:0.1232	1.749	0.02789	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	720.36	135	chr16	88436039	.	G	C	720.36	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.799;DP=2650;ExcessHet=1.3;FS=183.724;InbreedingCoeff=-0.1514;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.79;SOR=11.675	GT:AD:DP:GQ:PL	0/1:121,47:168:99:113,0,1998	14	0	5	0
chr16	88534107	88534133	CCGGCCGCGCCCCCGGGACCCCCTGGG	-	exonic	ZFPM1	.	nonframeshift deletion	ZFPM1:NM_153813:exon10:c.2149_2175del:p.G722_P730del	.	430	1089	3	0	0	3	0.00137552	.	.	.	3886887	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0004	0	0.0122	0	0	0.0013	0	0	0.0008452	22	26028	rs557721678	0.0079	0.0065	0.0081	0.0077	0.0089	0.0078	0.0077	0.0087	0.0086	0.0021	0.0020	0.0004	0.0011	0.0032	0.0016	0.0089	0.0071	0.0010	0.0058	0.0057	0.0063	0.0053	0.0087	0.0055	0.0054	0.0081	0.0078	0.0024	0	0.0071	0.0009	0.0027	0.0035	0	0.0087	0.0073	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1427.29	43	chr16	88534106	.	ACCGGCCGCGCCCCCGGGACCCCCTGGG	A	1427.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.02;ReadPosRankSum=0.078;SOR=0.764	GT:AD:DP:GQ:PL	0/1:26,36:62:99:1441,0,976	18	0	1	0
chr16	88657480	88657480	G	A	exonic	MVD	.	nonsynonymous SNV	MVD:NM_002461:exon4:c.C359T:p.T120M	Porokeratosis 7, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1295664	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.888	0.210820313297	.	.	1.879e-05	0	0	0	0	3.416e-05	0	0	1.94e-05	3	154602	rs757884457	2.671e-05	2.668e-05	2.589e-05	2.753e-05	4.639e-05	2e-05	1.756e-05	2.201e-05	1.942e-05	0	2.238e-05	0	0	0	0	3.058e-05	0	4.639e-05	1.97e-05	1.97e-05	0	4.033e-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	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.946	0.68276	D	0.000001	0.62929	D	0.097792	1	0.81001	D	3.355	0.91145	M	-1.98	0.85247	D	-5.89	0.88767	D	0.909	0.91047	0.765	0.93976	D	0.789	0.92854	D	10	0.9170991	0.91069	D	0.21082	0.87272	D	0.888	0.96762	0.737	0.86978	0.677595378676	0.67485	0.7021236284703799	0.70153	0.355989253825	0.37353	0.666965544224	0.62405	T	0.879518	0.97463	D	0.314486	0.84076	D	0.376601	0.91309	D	0.974656045436859	0.70599	D	0.99585	0.98729	D	0.71836585	0.79070	0.6001108	0.76770	0.71836585	0.79072	0.6001108	0.76771	-9.733	0.72297	D	0.6050795600574368	0.67230	0.148	0.56882	B	.;.	.;.	5.139372	0.86042	28.8	0.9990915332963175	0.97875	0.97261	0.73647	D	AEFDBCI	0.942844	0.94793	D	0.829262760280429	0.87897	9.380072	0.749565333693792	0.86125	8.790117	0.999999999984341	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	6.059000	0.70765	11.543000	0.93142	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.428000	0.27405	0.0:0.0:1.0:0.0	18.646	0.91368	835	0.38313	GHMP kinase N-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	1201.33	34	chr16	88657480	.	G	A	1201.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=802;ExcessHet=0;FS=5.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-1.562;SOR=0.677	GT:AD:DP:GQ:PL	0/1:74,48:122:99:1215,0,1885	18	0	1	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T,ANKRD11:NM_013275:exon9:c.T2381C:p.I794T,ANKRD11:NM_001256182:exon10:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3802387	KBG_syndrome	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1333	577.64	76	chr16	89284161	.	A	G	577.64	.	AC=4;AF=0.133;AN=30;BaseQRankSum=-2.147;DP=2246;ExcessHet=0.7564;FS=117.529;InbreedingCoeff=-0.2077;MLEAC=5;MLEAF=0.167;MQ=59.99;MQRankSum=0;QD=1.12;ReadPosRankSum=1.15;SOR=8.675	GT:AD:DP:GQ:PL	0/1:102,23:125:52:52,0,2294	11	0	4	4
chr16	89697782	89697782	C	T	exonic	SPATA2L	.	nonsynonymous SNV	SPATA2L:NM_152339:exon3:c.G827A:p.R276Q	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0058	0.00958466	0.0133	0.0036	0.0339	0	0.0145	0.0138	0.0122	0.0099	0.0002689	7	26028	rs11541226	0.0088	0.0089	0.0089	0.0086	0.0215	0.0087	0.0086	0.0203	0.0199	0.0032	0.0215	0.0001	2.585e-05	0.0151	0.0047	0.0089	0.0073	0.0078	0.0084	0.0085	0.0077	0.0092	0.0164	0.0081	0.0079	0.0147	0.0141	0.0029	0.0099	0.0164	0	0.0002	0.0166	0.0034	0.0098	0.0033	0.0114	0.465	0.08609	T	0.593	0.08134	T	0.003	0.11197	B	0.001	0.04355	B	0.264799	0.03733	N	1.640320	1	0.08975	N	-0.205	0.04094	N	.	.	.	-0.11	0.08653	N	0.11	0.09631	-1.0705	0.09304	T	0.017	0.07092	T	9	0.0019037426	0.00026	T	.	.	.	0.008	0.00669	.	.	.	.	0.14484776162713917	0.14407	0.0231062478935	0.02342	0.394946396351	0.24364	T	0.007619	0.07015	T	-0.735999	0.00022	T	-0.811735	0.01626	T	0.000666475163605965	0.00006	T	0.537046	0.18049	T	0.01632473	0.00190	0.025168346	0.00553	0.01632473	0.00190	0.025168346	0.00553	-4.032	0.24281	T	.	.	0.065	0.01884	B	.	.	0.173279	0.05618	2.072	0.83594441476864911	0.14812	0.02005	0.06038	N	AEFDBCI	0.068165	0.13435	N	-1.53795341433743	0.01606	0.07020208	-1.58108472136191	0.01771	0.08059026	0.999972614774429	0.50053	0.660377	0.49826	0	0.573116	0.20632	0	0.489635	0.07774	0	0.592323	0.36904	0	.	.	4.99	-7.35	0.01275	-1.663000	0.02070	-0.714000	0.07736	-0.898000	0.02344	0.000000	0.06391	0.000000	0.08366	0.376000	0.26245	0.1607:0.1387:0.3189:0.3817	1.561	0.02438	735	0.53711	.	GAS8-AS1|GAS8|GAS8|GAS8|GAS8-AS1	Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Thyroid|Thyroid	.	.	rs11541226	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006599	0.005263	0.008219	0.008772	0.000000	0.000000	0.006211	0.000000	0.02632	1659.33	53	chr16	89697782	.	C	T	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=999;ExcessHet=0;FS=5.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.04;ReadPosRankSum=-0.376;SOR=0.295	GT:AD:DP:GQ:PL	0/1:31,61:92:99:1673,0,670	18	0	1	0
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R,FANCA:NM_001286167:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	3	1387	124	8	0	140	0.0480439	.	.	.	137995	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_specified|FANCA-related_disorder	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.134	.	0.0053	0.00938498	0.0103	0.0013	0.0038	0	0.0100	0.0094	0.0099	0.0296	0.0096118	1486	154602	rs17233141	0.0092	0.0093	0.0085	0.0100	0.0324	0.0091	0.0090	0.0314	0.0310	0.0012	0.0043	0.0111	0	0.0093	0.0250	0.0080	0.0100	0.0324	0.0064	0.0064	0.0063	0.0065	0.0255	0.0061	0.0059	0.0218	0.0204	0.0018	0.0011	0.0067	0.0069	0.0002	0.0081	0.0170	0.0079	0.0090	0.0255	0.063	0.37536	T	0.072	0.45110	T	0.257	0.31412	B	0.143	0.33763	B	0.179044	0.17154	N	0.583605	1	0.08975	N	2.24	0.63355	M	-1.88	0.84557	D	-2.16	0.48850	N	0.338	0.39659	-0.7091	0.59997	T	0.315	0.68486	T	10	0.008692145	0.00197	T	.	.	.	0.134	0.36365	0.249	0.18602	.	.	0.17119845704923142	0.17039	.	.	0.284874647856	0.08182	T	0.224342	0.58875	T	-0.321408	0.06783	T	-0.210772	0.53621	T	0.00823742409031721	0.00099	T	0.563744	0.19863	T	0.068879694	0.15043	0.10313486	0.24736	0.086379096	0.20074	0.08347228	0.19130	-4.486	0.30718	T	0.5329796739477456	0.60360	0.201	0.43380	B	.;.	.;.	0.963643	0.13404	9.909	0.93017545135543789	0.22613	0.09317	0.15097	N	AEFBI	0.154989	0.28011	N	-0.867700815936059	0.11617	0.561594	-0.95107218514313	0.10898	0.5518684	0.720075285439065	0.22921	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.77	1.56	0.22423	1.788000	0.38346	3.011000	0.35961	-0.149000	0.12139	0.026000	0.20160	0.585000	0.25641	0.008000	0.08271	0.1928:0.0:0.634:0.1731	4.561	0.11560	671	0.60868	.;.	.	.	.	.	.	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	0.023185	0.010101	0.017663	0.011696	0.000000	0.025862	0.048780	0.019084	0.1053	2783.43	33	chr16	89767168	.	G	C	2783.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.568;DP=751;ExcessHet=0.7564;FS=0.482;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.284;SOR=0.739	GT:AD:DP:GQ:PL	0/1:29,23:52:99:543,0,692	15	0	4	0
chr16	89965923	89965923	A	G	exonic	DEF8	.	nonsynonymous SNV	DEF8:NM_001242817:exon12:c.A1136G:p.Q379R,DEF8:NM_001242819:exon12:c.A1265G:p.Q422R,DEF8:NM_001242816:exon13:c.A1286G:p.Q429R,DEF8:NM_001242818:exon13:c.A1316G:p.Q439R,DEF8:NM_207514:exon13:c.A1499G:p.Q500R,DEF8:NM_001242820:exon14:c.A1316G:p.Q439R	.	416	1094	12	0	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0172251356361	.	0.000199681	0.0009	0.0001	0.0003	0	0	0.0002	0.0024	0.0052	0.0006856	106	154602	rs202055951	0.0004	0.0004	0.0003	0.0005	0.0045	0.0004	0.0004	0.0041	0.0040	2.987e-05	0.0004	0	0	0	0.0042	0.0001	0.0006	0.0045	0.0003	0.0003	0.0003	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	9.629e-05	0.0099	6.536e-05	0	0	0	0.0034	0.0001	0.0005	0.0050	0.042	0.44029	D	0.088	0.41405	T	0.001	0.35719	B	0.001	0.29521	B	0.001306	0.39449	N	0.170753	0.94986	0.38926	D	2.25	0.63811	M	0.92	0.91956	T	-1.06	0.27669	N	0.106	0.15749	-1.0579	0.12286	T	0.080	0.31705	T	10	0.005384147	0.00118	T	0.017225	0.38843	T	0.043	0.11576	.	.	0.564579235405	0.56121	0.45647020073458555	0.45565	0.602164739039	0.55238	0.399929523468	0.25058	T	0.009299	0.08472	T	-0.275869	0.11111	T	-0.168502	0.57579	T	0.0350807525866559	0.02822	T	0.756024	0.37907	T	0.08549143	0.19833	0.10329579	0.24781	0.08549143	0.19832	0.10329579	0.24781	-5.914	0.49196	T	.	.	0.090	0.12560	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.551989	0.33031	19.22	0.99031935297554652	0.50830	0.76238	0.37376	D	AEFDBI	0.234281	0.35707	N	-0.19890250793686	0.33179	1.879528	-0.0898632112949158	0.35808	2.076101	0.785460660593361	0.23922	0.787689	0.99735	0	0.709663	0.81188	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	4.44	3.32	0.37134	3.122000	0.50139	3.591000	0.39190	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.8103:0.0:0.1897:0.0	7.729	0.27941	633	0.64743	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05263	1895.83	34	chr16	89965923	.	A	G	1895.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.367;DP=775;ExcessHet=0.119;FS=1.164;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.665;SOR=0.592	GT:AD:DP:GQ:PL	0/1:47,40:87:99:877,0,1295	17	0	2	0
chr17	4592966	4592966	C	A	exonic	SMTNL2	.	nonsynonymous SNV	SMTNL2:NM_001114974:exon3:c.C525A:p.F175L,SMTNL2:NM_198501:exon3:c.C93A:p.F31L	.	424	1073	25	0	0	25	0.0115154	.	.	.	740829	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.072	0.0360831208966	0.0019	0.000399361	0.0018	0.0002	0.0027	0.0001	0.0002	0.0025	0.0044	0.0005	0.0018111	280	154602	rs145126598	0.0025	0.0025	0.0026	0.0024	0.0101	0.0025	0.0025	0.0080	0.0072	0.0004	0.0021	0.0037	0	0.0001	0.0101	0.0029	0.0029	0.0005	0.0019	0.0019	0.0020	0.0017	0.0030	0.0017	0.0016	0.0027	0.0026	0.0005	0	0.0024	0.0020	0	0.0002	0.0034	0.0030	0.0057	0.0002	0.102	0.30235	T	0.641	0.06948	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.67	0.42885	L	-1.35	0.80214	T	-0.39	0.15986	N	0.117	0.10626	-0.9173	0.45918	T	0.275	0.64639	T	9	0.008154988	0.00185	T	0.036083	0.56766	D	0.072	0.21020	0.132	0.03662	0.479133204078	0.47542	0.16857906858396557	0.16777	0.406464777723	0.41524	0.450155854225	0.31965	T	6.54E-4	0.00285	T	-0.487252	0.00673	T	-0.472276	0.25272	T	0.000269420048464339	0.00002	T	0.318868	0.06391	T	0.04020663	0.05696	0.03238495	0.01966	0.04020663	0.05696	0.03238495	0.01965	-1.322	0.01482	T	.	.	0.317	0.54316	B	.;.	.;.	0.458615	0.08286	5.030	0.86060079012006774	0.16287	0.03520	0.08703	N	AEFDBI	0.062606	0.12045	N	-0.99916630538342	0.08622	0.4049587	-1.06251479446449	0.08447	0.4154179	0.00303772998690517	0.09882	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.75	-1.24	0.08948	0.242000	0.17862	-0.174000	0.11198	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4654:0.2891:0.1516:0.0939	2.772	0.05008	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008056	0.005051	0.004087	0.014620	0.000000	0.025862	0.009146	0.003788	0.05263	2982.83	43	chr17	4592966	.	C	A	2982.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.131;DP=910;ExcessHet=0.119;FS=0.429;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.16;SOR=0.734	GT:AD:DP:GQ:PL	0/1:106,78:184:99:1793,0,2741	17	0	2	0
chr17	4986267	4986267	G	A	exonic	CAMTA2	.	nonsynonymous SNV	CAMTA2:NM_001171167:exon2:c.C25T:p.R9W,CAMTA2:NM_001171168:exon2:c.C25T:p.R9W	.	415	1106	1	0	0	1	0.000451875	.	.	.	3298763	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.0945394950166	0.0003	.	0.0004	0.0003	0.0005	0.0002	0	0.0004	0.0030	0.0008	0.0002975	46	154602	rs201093195	0.0004	0.0004	0.0004	0.0003	0.0009	0.0003	0.0003	0.0007	0.0007	6.719e-05	0.0003	0	2.561e-05	0	0.0006	0.0004	0.0003	0.0009	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	4.83e-05	0	0.0003	0	0	0	0	0.0003	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	.	.	.	2.51	0.35219	T	-0.72	0.21860	N	0.433	0.48319	-1.0749	0.08369	T	0.046	0.19640	T	9	0.059373677	0.07126	T	0.094539	0.76270	D	0.073	0.21317	.	.	0.134007934775	0.12933	0.3555133562095922	0.35465	0.570417275968	0.53198	0.557683467865	0.46940	T	.	.	.	-0.462283	0.00951	T	-0.508301	0.21490	T	0.0996254848207634	0.12316	T	0.809719	0.46038	T	.	.	.	.	.	.	.	.	-5.085	0.37748	T	.	.	0.499	0.67467	A	.;.	.;.	3.376746	0.46690	22.3	0.99700871363315358	0.80591	0.44721	0.27380	N	AEFGBI	0.442746	0.50035	N	-0.286103021399653	0.29684	1.648356	-0.0874755302465565	0.35907	2.083024	0.999999801864402	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.602189	0.34648	0	0.375	0.06713	1	.	.	4.6	3.6	0.40374	1.960000	0.40046	3.320000	0.37537	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1062:0.0:0.8938:0.0	8.839	0.34290	561	0.71236	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	930.33	34	chr17	4986267	.	G	A	930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.452;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.695;SOR=0.717	GT:AD:DP:GQ:PL	0/1:33,39:72:99:944,0,842	18	0	1	0
chr17	6445169	6445169	A	C	exonic	PIMREG	.	nonsynonymous SNV	PIMREG:NM_001195228:exon2:c.A59C:p.Q20P,PIMREG:NM_019013:exon2:c.A59C:p.Q20P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0133777501934	.	.	8.656e-06	0	9.093e-05	0	0	0	0	0	6.5e-06	1	154602	rs770930490	3.421e-06	3.42e-06	4.085e-06	2.751e-06	0.0002	1e-06	7.3e-07	.	.	0	2.238e-05	0	0	0	0.0002	8.994e-07	1.657e-05	1.16e-05	6.576e-06	6.568e-06	1.286e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.111	0.29029	T	0.013	0.63109	D	0.578	0.43566	P	0.264	0.47030	B	0.716833	0.09968	N	0.837048	0.986134	0.24645	N	.	.	.	0.82	0.48142	T	-2.86	0.60188	D	0.477	0.51226	-0.9630	0.38606	T	0.163	0.49864	T	10	0.34283477	0.51307	T	0.013378	0.32738	T	0.132	0.35948	0.494	0.58206	0.486567385682	0.48289	0.20474860797563782	0.20391	0.550379459692	0.51906	0.241067737341	0.02887	T	0.154536	0.49586	T	-0.156445	0.27309	T	-0.379633	0.35766	T	0.45820760347056	0.31100	T	0.646635	0.25786	T	0.28589496	0.51608	0.33715788	0.59509	0.28589496	0.51608	0.33715788	0.59508	-3.625	0.18408	T	.	.	0.110	0.29116	B	.;.;.;.;.;.	.;.;.;.;.;.	1.782984	0.22667	15.71	0.98485725752313613	0.42037	0.59158	0.30838	D	AEFBCI	0.268676	0.38512	N	-0.0685295713810273	0.38780	2.276518	-0.107928400123728	0.35070	2.024597	0.999955195743579	0.48110	0.660085	0.49399	0	0.662677	0.63036	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	4.66	3.58	0.40133	1.465000	0.34909	0.428000	0.18294	0.751000	0.87719	0.679000	0.28429	0.185000	0.23452	0.320000	0.24970	0.8952:0.0:0.1048:0.0	6.794	0.22899	883	0.28872	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	423.33	34	chr17	6445169	.	A	C	423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.88;DP=728;ExcessHet=0;FS=4.012;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.3;ReadPosRankSum=-0.241;SOR=1.312	GT:AD:DP:GQ:PL	0/1:31,20:51:99:437,0,789	18	0	1	0
chr17	6760425	6760425	G	A	exonic	XAF1	.	nonsynonymous SNV	XAF1:NM_001353140:exon3:c.G121A:p.A41T,XAF1:NM_199139:exon3:c.G188A:p.R63H,XAF1:NM_001353136:exon4:c.G65A:p.R22H,XAF1:NM_001353139:exon4:c.G178A:p.A60T,XAF1:NM_017523:exon4:c.G245A:p.R82H,XAF1:NM_001353135:exon5:c.G245A:p.R82H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00712880889771	.	0.000199681	4.05e-05	0.0001	0	0	0	1.826e-05	0	0.0001	3.88e-05	6	154602	rs554272652	5.692e-05	5.746e-05	7.232e-05	4.135e-05	0.0002	4.688e-05	4.312e-05	8.891e-05	6.449e-05	0.0001	0.0002	3.838e-05	5.062e-05	0	0	4.324e-05	0.0002	9.305e-05	8.586e-05	8.556e-05	9.038e-05	8.113e-05	0.0002	4.982e-05	3.982e-05	5.303e-05	2.84e-05	9.694e-05	0	0.0002	0	0	0	0	5.893e-05	0.0005	0.0002	0.131	0.27783	T	0.073	0.43159	T	0.559	0.43974	P	0.061	0.38015	B	0.043344	0.23748	N	0.372116	1	0.08975	N	1.56	0.39490	L	1.3	0.35590	T	-2.83	0.62343	D	0.316	0.35620	-0.9625	0.38704	T	0.122	0.42357	T	10	0.058918923	0.07002	T	0.007129	0.18896	T	0.092	0.26621	.	.	0.0806252709748	0.07271	0.32878628464458326	0.32791	0.197134084636	0.22086	0.206038817763	0.00654	T	0.460058	0.79739	T	-0.360425	0.04106	T	-0.5298	0.19307	T	0.112079823098522	0.13638	T	0.714629	0.32694	T	0.039620727	0.05505	0.041832842	0.04843	0.039620727	0.05504	0.041832842	0.04843	-4.517	0.77862	T	.	.	0.114	0.22500	B	.;.;.	.;.;.	0.627062	0.09953	6.711	0.97970829652930402	0.37253	0.12977	0.17592	N	AEFBCI	0.059177	0.11156	N	-0.659203805828225	0.17193	0.8825999	-0.845339503870856	0.13399	0.6949086	0.999155227146429	0.38592	0.67177	0.52595	0	0.702456	0.74545	0	0.615948	0.41167	0	0.635551	0.53088	0	.	.	4.23	-1.58	0.08029	0.400000	0.20657	-0.903000	0.06984	-0.733000	0.03713	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.5824:0.0:0.4176:0.0	7.877	0.28764	878	0.29785	Zinc finger, TRAF-type;.;Zinc finger, TRAF-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	.	.	.	.	.	.	.	.	0.02632	902.33	34	chr17	6760425	.	G	A	902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=942;ExcessHet=0;FS=0.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-2.095;SOR=0.898	GT:AD:DP:GQ:PL	0/1:44,36:80:99:916,0,965	18	0	1	0
chr17	8797829	8797829	G	A	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.C1292T:p.T431M	.	425	1073	24	0	0	24	0.0110599	.	.	.	2814936	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.215	0.0118119177933	0.0017	0.000599042	0.0022	0.0003	0.0010	0.0002	0.0015	0.0025	0.0033	0.0044	0.0020892	323	154602	rs143053789	0.0027	0.0027	0.0027	0.0028	0.0049	0.0026	0.0026	0.0042	0.0041	0.0005	0.0014	0	0.0001	0.0015	0.0049	0.0029	0.0020	0.0046	0.0015	0.0015	0.0016	0.0015	0.0025	0.0014	0.0013	0.0021	0.0020	0.0003	0	0.0020	0	0	0.0014	0	0.0024	0.0009	0.0025	0.123	0.27544	T	0.128	0.34959	T	0.002	0.09854	B	0.0	0.01387	B	0.888400	0.07280	N	1.070780	1	0.08975	N	-0.69	0.01958	N	-2.27	0.87433	D	0.34	0.03824	N	0.055	0.02658	-0.8222	0.53796	T	0.292	0.66326	T	10	0.007179916	0.00163	T	0.011812	0.29802	T	0.215	0.50805	.	.	0.0954503805726	0.09146	0.15639737675013668	0.15560	0.116721941185	0.13163	0.235561966896	0.02405	T	0.002077	0.01480	T	-0.489098	0.00657	T	-0.475613	0.24913	T	0.00118356059145533	0.00012	T	0.328667	0.06851	T	0.016269209	0.00186	0.034068596	0.02410	0.016269209	0.00186	0.034068596	0.02409	-4.912	0.35870	T	.	.	0.076	0.05756	B	.	.	0.035969	0.04534	1.230	0.84881006772657974	0.15553	0.03629	0.08871	N	AEFBCI	0.055111	0.10079	N	-1.55019479601857	0.01533	0.06696851	-1.51936100233075	0.02195	0.1006067	0.158898627610919	0.17561	0.614807	0.35715	0	0.577304	0.33150	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	4.9	-1.21	0.09033	0.174000	0.16557	0.182000	0.15643	-1.449000	0.01096	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3713:0.0:0.4897:0.1391	7.017	0.24074	803	0.44167	Major facilitator superfamily associated domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.005051	0.004076	0.000000	0.000000	0.008621	0.006098	0.015152	0.05263	6926.83	46	chr17	8797829	.	G	A	6926.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.31;DP=1652;ExcessHet=0.119;FS=1.102;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=1.39;SOR=0.769	GT:AD:DP:GQ:PL	0/1:106,140:246:99:3630,0,2476	17	0	2	0
chr17	9023287	9023287	A	T	exonic	NTN1	.	nonsynonymous SNV	NTN1:NM_004822:exon2:c.A914T:p.D305V	.	428	1091	3	0	0	3	0.001373	.	.	.	2384103	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.372	0.312623577622	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs745784631	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	3.127e-05	0	0	0	0	0.0007	0.0002	5.163e-05	3.708e-05	3.943e-05	3.94e-05	3.856e-05	4.034e-05	7.35e-05	1.716e-05	1.13e-05	2.847e-05	1.858e-05	0	0	6.541e-05	0	0	0	0	7.35e-05	0	0	0.045	0.40832	D	0.095	0.39492	T	0.933	0.52105	P	0.949	0.68658	D	0.000004	0.62929	D	0.103113	1	0.81001	D	2.045	0.56016	M	0.07	0.61677	T	-7.02	0.93786	D	0.611	0.62781	-0.4953	0.68819	T	0.343	0.70875	T	10	0.8123008	0.80502	D	0.312624	0.91232	D	0.372	0.69102	0.528	0.63412	0.73970075848	0.73736	0.6203860803154823	0.61971	.	.	0.763052582741	0.76385	T	0.391784	0.75162	T	0.000631771	0.51742	T	-0.0398975	0.67708	D	0.49246523403695	0.32354	T	0.89671	0.63922	D	0.7151916	0.78894	0.65202034	0.79636	0.7151916	0.78896	0.65202034	0.79637	-10.152	0.74817	D	0.2970622627129335	0.39415	0.393	0.59182	A	.	.	5.561218	0.92137	32	0.9932666397944524	0.59622	0.97385	0.74413	D	AEFDBCI	0.797085	0.72403	D	0.619525996225388	0.74412	6.128136	0.610908830359685	0.75730	6.362624	0.999999999954147	0.74766	0.652421	0.48094	0	0.541168	0.11318	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	5.24	5.24	0.72863	7.364000	0.78783	9.315000	0.79993	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.812	0.69627	938	0.14419	Laminin EGF domain|Laminin EGF domain|Laminin EGF 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	0.003646	0.000000	0.004132	0.000000	0.000000	0.009259	0.003165	0.007692	0.02632	614.33	35	chr17	9023287	.	A	T	614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.399;DP=729;ExcessHet=0;FS=4.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=1.43;SOR=0.328	GT:AD:DP:GQ:PL	0/1:54,29:83:99:628,0,1388	18	0	1	0
chr17	9612445	9612445	C	T	exonic	CFAP52	.	nonsynonymous SNV	CFAP52:NM_001080556:exon7:c.C787T:p.H263Y,CFAP52:NM_145054:exon8:c.C991T:p.H331Y	.	432	1088	2	0	0	2	0.000918274	.	.	.	2207030	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.579	0.239239532111	7.7e-05	0.000199681	3.296e-05	0	0	0	0	4.497e-05	0	6.057e-05	3.88e-05	6	154602	rs200953170	2.531e-05	2.531e-05	1.634e-05	3.438e-05	0.0005	1.868e-05	1.631e-05	0.0001	7.541e-05	0	0	0	0	0	0.0005	2.068e-05	8.279e-05	6.957e-05	4.596e-05	4.593e-05	3.854e-05	5.371e-05	0.0002	2.108e-05	1.526e-05	1.171e-05	6.25e-06	2.405e-05	0	0	0	0	0	0	4.41e-05	0.0009	0.0002	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	-2.82	0.91192	D	-5.78	0.88224	D	0.939	0.94550	0.957	0.96501	D	0.876	0.95874	D	10	0.91078806	0.90443	D	0.23924	0.88622	D	0.579	0.83024	.	.	0.454893017966	0.45111	0.8187856217069842	0.81835	0.383503995499	0.39674	0.562497854233	0.47619	T	0.249613	0.61959	T	0.348791	0.86424	D	0.393688	0.91905	D	0.94905424118042	0.63029	D	0.893011	0.63001	D	0.7115441	0.78692	0.6586047	0.80003	0.7115441	0.78694	0.6586047	0.80004	-11.247	0.85450	D	.	.	0.813	0.77969	P	.;.	.;.	3.247205	0.44348	21.9	0.99742998238932989	0.83629	0.92203	0.55175	D	AEFI	0.695108	0.65389	D	0.673188595296446	0.77878	6.759894	0.594708156915021	0.74558	6.157755	0.997292016564865	0.35467	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	6.055000	0.70726	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.039000	0.14166	0.0:1.0:0.0:0.0	18.233	0.89876	917	0.20147	.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.000000	0.02632	1044.33	33	chr17	9612445	.	C	T	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.338;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.276;SOR=0.659	GT:AD:DP:GQ:PL	0/1:44,43:87:99:1058,0,1130	18	0	1	0
chr17	10501336	10501336	C	T	exonic	MYH1	.	nonsynonymous SNV	MYH1:NM_005963:exon27:c.G3512A:p.R1171Q	.	21	1492	9	0	0	9	0.00300702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.571	.	0.0080	0.00239617	0.0082	0.0014	0.0016	0	0.0269	0.0111	0.0132	0.0020	0.0077295	1195	154602	rs144827751	0.0095	0.0095	0.0095	0.0094	0.0103	0.0093	0.0093	0.0102	0.0101	0.0011	0.0022	0.0011	5.038e-05	0.0280	0.0047	0.0103	0.0075	0.0020	0.0078	0.0078	0.0072	0.0084	0.0105	0.0074	0.0072	0.0099	0.0096	0.0020	0	0.0024	0.0006	0	0.0309	0.0034	0.0105	0.0052	0.0014	0.09	0.31987	T	0.079	0.42086	T	0.999	0.77913	D	0.982	0.75477	D	0.001234	0.39743	U	0.000000	0.999998	0.58761	D	3.215	0.89331	M	-1.93	0.84842	D	-2.61	0.56144	D	0.888	0.88687	0.536	0.91042	D	0.743	0.91216	D	10	0.013422966	0.00285	T	.	.	.	0.571	0.82573	.	.	0.853884769292	0.85247	0.316011336646075	0.31514	0.523238484671	0.50038	0.771450281143	0.77642	T	0.581295	0.86293	D	-0.264681	0.12357	T	-0.142585	0.59893	T	0.034736927235383	0.02762	T	0.917708	0.70434	D	0.21808186	0.44307	0.21202436	0.45655	0.21808186	0.44307	0.21202436	0.45654	-12.44	0.86928	D	.	.	0.346	0.56337	A	.	.	4.887868	0.80225	27.3	0.99957647107245373	0.99986	0.98720	0.85993	D	AEFBI	0.709825	0.66379	D	0.883286889249112	0.90918	10.62737	0.832912935260931	0.91980	11.171	0.999999993069628	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	5.956000	0.70034	4.610000	0.44033	0.599000	0.40250	1.000000	0.71638	0.435000	0.24875	0.997000	0.79791	0.0:1.0:0.0:0.0	19.787	0.96438	172	0.93355	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007400	0.000000	0.005435	0.000000	0.000000	0.008621	0.018293	0.018939	0.02632	2070.33	34	chr17	10501336	.	C	T	2070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=771;ExcessHet=0;FS=1.318;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.36;MQRankSum=1.85;QD=14.38;ReadPosRankSum=1.84;SOR=0.569	GT:AD:DP:GQ:PL	0/1:68,76:144:99:2084,0,1746	18	0	1	0
chr17	15628790	15628790	G	A	exonic	TRIM16	.	nonsynonymous SNV	TRIM16:NM_001348121:exon8:c.C1130T:p.S377F,TRIM16:NM_001348122:exon8:c.C1130T:p.S377F,TRIM16:NM_001348126:exon9:c.C1034T:p.S345F,TRIM16:NM_006470:exon9:c.C1520T:p.S507F,TRIM16:NM_001348120:exon10:c.C1520T:p.S507F,TRIM16:NM_001348124:exon11:c.C872T:p.S291F,TRIM16:NM_001348125:exon11:c.C872T:p.S291F,TRIM16:NM_001348119:exon12:c.C1520T:p.S507F	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	0.0955856229136	0.0005	0.00199681	0.0015	0	0.0006	0	0	0.0009	0.0022	0.0069	0.0013001	201	154602	rs146156927	0.0008	0.0008	0.0005	0.0011	0.0072	0.0008	0.0008	0.0067	0.0065	0.0001	0.0006	0.0070	0	3.744e-05	0.0066	0.0002	0.0013	0.0072	0.0006	0.0006	0.0006	0.0007	0.0054	0.0005	0.0005	0.0038	0.0032	9.624e-05	0.0033	0.0005	0.0069	0	0	0.0068	0.0003	0.0019	0.0054	0.001	0.78490	D	0.002	0.79402	D	0.991	0.64070	D	0.947	0.68407	D	.	.	.	.	0.989037	0.81001	D	4.095	0.97289	H	-0.35	0.68616	T	-4.48	0.77965	D	0.476	0.57860	0.275	0.87150	D	0.536	0.82859	D	9	0.024820805	0.00697	T	0.095586	0.76455	D	0.627	0.85615	.	.	0.906246385288	0.90530	0.6927661692394586	0.69216	0.581702386416	0.53958	.	.	.	0.430462	0.77891	T	-0.111629	0.34500	T	0.0707417	0.74959	D	0.18864821436576	0.19765	T	0.875412	0.58680	D	0.3580507	0.57687	0.51122445	0.71755	0.3580507	0.57687	0.51122445	0.71755	-11.888	0.87291	D	.	.	0.502	0.65364	A	.;.;.;.;.	.;.;.;.;.	4.563966	0.71947	25.8	0.99841371369923149	0.92143	0.97189	0.73214	D	AEFGBI	0.844736	0.76169	D	0.76256967206032	0.83722	8.092111	0.657689500530787	0.79184	7.029177	0.999771011070061	0.42865	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.72	4.72	0.59248	5.183000	0.64902	9.698000	0.81294	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.545000	0.30055	0.0:0.0:1.0:0.0	15.548	0.75864	804	0.43891	.;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY 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	0.006546	0.005051	0.004076	0.020468	0.000000	0.008621	0.000000	0.007576	0.02632	3453.33	46	chr17	15628790	.	G	A	3453.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=926;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.7;MQRankSum=-5.749;QD=14.51;ReadPosRankSum=-0.003;SOR=0.722	GT:AD:DP:GQ:PL	0/1:115,123:238:99:3467,0,3185	18	0	1	0
chr17	16551938	16551938	C	T	exonic	ZNF287	.	nonsynonymous SNV	ZNF287:NM_001346170:exon5:c.G2060A:p.R687H,ZNF287:NM_001346167:exon6:c.G2204A:p.R735H,ZNF287:NM_001346169:exon6:c.G2204A:p.R735H,ZNF287:NM_001346171:exon6:c.G1697A:p.R566H,ZNF287:NM_020653:exon6:c.G2204A:p.R735H,ZNF287:NM_001346168:exon7:c.G2204A:p.R735H	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00620099950484	.	0.00179712	0.0011	0	0.0010	0	0	0.0003	0.0022	0.0060	0.0009508	147	154602	rs543649828	0.0005	0.0005	0.0003	0.0007	0.0061	0.0005	0.0005	0.0056	0.0055	2.987e-05	0.0009	0.0028	0	0	0.0009	5.396e-05	0.0007	0.0061	0.0004	0.0004	0.0003	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	2.407e-05	0	0.0009	0.0023	0	0	0	8.823e-05	0.0009	0.0062	0.427	0.09629	T	0.063	0.45110	T	.	.	.	.	.	.	0.000140	0.49741	D	0.000000	1	0.08975	N	.	.	.	2.47	0.14783	T	0.26	0.04380	N	0.152	0.15609	-1.0156	0.25143	T	0.018	0.07329	T	10	0.0059185624	0.00133	T	0.006201	0.16259	T	0.094	0.27141	.	.	0.082315109003	0.07666	0.16318969162054311	0.16238	1.33258511379	0.83673	0.436267673969	0.30067	T	.	.	.	-0.549231	0.00295	T	-0.558541	0.16513	T	0.0543660982385455	0.06250	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11414	B	.;.	.;.	2.711439	0.35441	19.90	0.99729596283437572	0.82690	0.00003	0.00079	N	AEFGBHCI	0.085190	0.17269	N	-0.322066696290559	0.28311	1.560534	-0.315119740052915	0.27609	1.533296	0.00230327555490882	0.09310	0.638212	0.43195	0	0.486142	0.07564	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	4.89	1.84	0.24348	-1.814000	0.01817	-0.306000	0.10077	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.0:0.5525:0.1706:0.277	4.193	0.09889	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2891.33	33	chr17	16551938	.	C	T	2891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=872;ExcessHet=0;FS=2.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.369;SOR=0.873	GT:AD:DP:GQ:PL	0/1:130,117:247:99:2905,0,3123	18	0	1	0
chr17	18672876	18672876	C	A	exonic	FOXO3B	.	nonsynonymous SNV	FOXO3B:NM_001368134:exon4:c.G306T:p.E102D,FOXO3B:NM_001368135:exon4:c.G306T:p.E102D	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.877e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs760847203	7.803e-06	1.094e-05	4.211e-06	1.147e-05	0.0005	4.19e-06	3.06e-06	8.608e-05	3.581e-05	0	0	0	0	0	0.0005	5.515e-06	1.715e-05	2.487e-05	6.6e-06	6.562e-06	0	1.351e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11882773	0.22473	T	.	.	.	.	.	.	.	0.661991603742	0.65915	.	.	.	.	.	.	.	.	.	.	-0.365111	0.03849	T	-0.762233	0.03033	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.051000	0.26077	16.99	0.69876757959413027	0.09113	0.03744	0.09046	N	AEFDI	0.071335	0.14196	N	.	.	.	.	.	.	8.72350367046645E-6	0.01202	0.651	0.46895	0	0.588066	0.40923	0	0.575934	0.27490	0	0.683762	0.67416	0	.	.	.	.	.	-0.096000	0.11027	1.246000	0.25138	.	.	0.000000	0.06391	1.000000	0.68203	.	.	1.0E-4:0.5541:0.4458:1.0E-4	4.188	0.09869	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1132.33	34	chr17	18672876	.	C	A	1132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.624;DP=793;ExcessHet=0;FS=5.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.76;MQRankSum=-0.297;QD=10.11;ReadPosRankSum=0.272;SOR=0.491	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1146,0,1474	18	0	1	0
chr17	19021984	19021984	C	T	exonic	GRAP	.	nonsynonymous SNV	GRAP:NM_001330148:exon4:c.G460A:p.V154I,GRAP:NM_006613:exon5:c.G629A:p.S210N	.	434	1079	8	1	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	.	0.000399361	0.0013	0	0	0	0	0.0003	0.0023	0.0107	0.0006533	101	154602	rs547412312	0.0004	0.0004	0.0003	0.0006	0.0052	0.0004	0.0004	0.0048	0.0046	3.124e-05	0.0002	0	0	0	0.0031	0.0001	0.0004	0.0052	0.0003	0.0003	0.0001	0.0004	0.0075	0.0002	0.0002	0.0055	0.0049	0	0	6.532e-05	0	0	0	0	5.879e-05	0	0.0075	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001008	0.40652	N	0.272711	0.827866	0.81001	N	-0.45	0.02807	N	1.81	0.25182	T	1.19	0.01551	N	0.045	0.09066	-0.9733	0.36496	T	0.015	0.06186	T	10	0.008042216	0.00183	T	.	.	.	0.092	0.26621	0.571	0.69431	0.364926071151	0.36103	0.19471421977463813	0.19389	0.596854558386	0.54905	0.486995071173	0.37023	T	0.074936	0.35059	T	-0.645284	0.00077	T	-0.698454	0.05911	T	0.0143918073240829	0.00289	T	0.793521	0.43550	T	0.0481122	0.08333	0.052291792	0.08585	0.0481122	0.08333	0.052291792	0.08585	-3.239	0.12963	T	.	.	0.089	0.14751	B	.;.	.;.	2.360931	0.30283	18.39	0.78747688386280024	0.12435	0.60656	0.31258	D	AEFDGBCI	0.167740	0.29444	N	-0.703344632042842	0.15928	0.8070645	-0.483041738657393	0.22621	1.229542	0.997794058547809	0.36039	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.636168	0.56350	0	.	.	4.61	3.53	0.39533	2.807000	0.47652	3.939000	0.40590	0.535000	0.24933	1.000000	0.71638	1.000000	0.68203	0.100000	0.18284	0.0:0.6294:0.0:0.3706	5.496	0.16093	809	0.43032	SH3 domain|SH3 domain|SH3 domain|SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 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	0.002033	0.000000	0.000000	0.002924	0.000000	0.000000	0.003086	0.007576	0.02632	825.33	34	chr17	19021984	.	C	T	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.64;DP=712;ExcessHet=0;FS=5.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.304;SOR=1.347	GT:AD:DP:GQ:PL	0/1:57,34:91:99:839,0,1580	18	0	1	0
chr17	20205579	20205579	A	C	exonic	SPECC1	.	nonsynonymous SNV	SPECC1:NM_001033554:exon2:c.A1287C:p.K429N,SPECC1:NM_001033555:exon2:c.A1287C:p.K429N,SPECC1:NM_001243438:exon2:c.A1287C:p.K429N,SPECC1:NM_001033553:exon4:c.A1530C:p.K510N,SPECC1:NM_001243439:exon4:c.A1530C:p.K510N,SPECC1:NM_152904:exon4:c.A1530C:p.K510N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0654817096583	.	.	.	.	.	.	.	.	.	.	.	.	.	rs144325201	6.841e-07	6.84e-07	0	1.375e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.479	0.20486	T	0.417	0.64738	B	0.199	0.60815	B	0.158426	0.17740	N	0.641671	0.999999	0.08975	N	2.595	0.75868	M	-0.14	0.65006	T	-3.44	0.67477	D	0.241	0.27197	-0.4866	0.69129	T	0.388	0.74305	T	10	0.12345135	0.23435	T	0.065482	0.69592	D	0.143	0.38195	0.147	0.05039	0.511220899679	0.50763	0.11480010806406164	0.11408	0.194298798218	0.21767	0.312457501888	0.12278	T	0.043719	0.26591	T	-0.231527	0.16448	T	-0.469719	0.25546	T	0.576069951057434	0.35467	D	0.859414	0.55137	D	0.037139572	0.04704	0.047859617	0.06988	0.037139572	0.04704	0.047859617	0.06987	-3.445	0.18248	T	.	.	0.163	0.45470	B	.;.;.;.;.;.	.;.;.;.;.;.	0.493344	0.08624	5.394	0.90177107134502199	0.19453	0.07377	0.13397	N	AEFGBI	0.206458	0.33271	N	-0.836923766931101	0.12375	0.602779	-1.06690386353932	0.08359	0.4106202	0.99999953579112	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.59	-6.37	0.01790	-0.124000	0.10571	-0.258000	0.10450	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.257000	0.23443	0.2892:0.1063:0.6045:0.0	11.686	0.50748	576	0.70006	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	1584.33	105	chr17	20205579	.	A	C	1584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=1338;ExcessHet=0;FS=2.234;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-1.92;SOR=0.895	GT:AD:DP:GQ:PL	0/1:71,59:130:99:1598,0,1797	18	0	1	0
chr17	28720857	28720857	A	G	exonic	RPL23A	.	nonsynonymous SNV	RPL23A:NM_000984:exon2:c.A176G:p.K59R	.	410	1107	5	0	0	5	0.00225327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.00464601190937	.	0.00119808	0.0006	0	0	0	0	3.035e-05	0	0.0039	0.0004786	74	154602	rs61738395	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0033	0.0031	2.987e-05	0	0	0	0	0.0007	1.799e-05	0.0002	0.0036	0.0002	0.0002	8.997e-05	0.0004	0.0064	0.0002	0.0002	0.0047	0.0040	4.814e-05	0	0	0	0	0	0	2.941e-05	0.0005	0.0064	0.099	0.33753	T	0.117	0.41742	T	0.043	0.21573	B	0.111	0.31539	B	0.002228	0.36970	U	0.000000	1	0.81001	D	2.295	0.65404	M	.	.	.	-2.18	0.49187	N	0.635	0.68429	-0.5309	0.67508	T	0.321	0.69030	T	9	0.012814105	0.00274	T	0.004646	0.11503	T	0.263	0.57612	0.422	0.46529	0.511085392132	0.50748	0.3583747981476196	0.35751	0.804879020079	0.66419	0.795937776566	0.81345	T	0.338438	0.70770	T	-0.261847	0.12684	T	-0.151007	0.59154	T	0.0675412493319172	0.08302	T	0.718628	0.33447	T	0.154967	0.35047	0.1941931	0.43028	0.154967	0.35047	0.1941931	0.43027	-8.03	0.61275	D	.	.	0.114	0.30238	B	.;.;.	.;.;.	4.709559	0.75645	26.4	0.99783950973432378	0.87043	0.99170	0.92261	D	AEFBHCI	0.960441	0.98124	D	0.498297525458533	0.66989	5.022324	0.588717242793197	0.74128	6.084867	0.999999999999999	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.83	5.83	0.93059	9.163000	0.93904	9.128000	0.78864	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	15.382	0.74383	129	0.94817	Ribosomal protein L23/L25, N-terminal;Ribosomal protein L23/L25, N-terminal;Ribosomal protein L23/L25, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2628.33	36	chr17	28720857	.	A	G	2628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=873;ExcessHet=0;FS=0.499;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.4;MQRankSum=0.303;QD=12.22;ReadPosRankSum=-0.704;SOR=0.754	GT:AD:DP:GQ:PL	0/1:110,105:215:99:2642,0,2550	18	0	1	0
chr17	30999132	30999132	T	C	exonic	RNF135	.	nonsynonymous SNV	RNF135:NM_032322:exon5:c.T1240C:p.F414L	Macrocephaly, macrosomia, facial dysmorphism syndrome	.	.	.	.	.	.	.	.	.	.	3209618	RNF135-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.688	0.0702322157156	.	0.000199681	3.301e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs201019019	4.104e-06	4.104e-06	5.445e-06	2.75e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	1.656e-05	5.797e-05	6.566e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000226	0.47286	D	0.000000	0.713625	0.81001	D	2.6	0.76081	M	-0.98	0.75789	T	-4.54	0.78472	D	0.502	0.53445	0.152	0.85085	D	0.556	0.83794	D	10	0.48778617	0.60811	T	0.070232	0.70947	D	0.688	0.88632	0.734	0.86719	0.819614843764	0.81791	0.7820619496595429	0.78157	0.509279352308	0.49067	0.581248581409	0.50262	T	0.171087	0.51908	T	-0.0648852	0.42139	T	-0.094311	0.63834	T	0.959538161754608	0.65560	D	0.686231	0.29475	T	0.8694114	0.88815	0.64855903	0.79443	0.8694114	0.88816	0.64855903	0.79444	-6.491	0.50217	T	.	.	0.969	0.89300	P	.	.	4.371280	0.67299	25.1	0.9985975934298531	0.93820	0.91537	0.53738	D	AEFDBI	0.344984	0.44029	N	0.545691029756351	0.69821	5.411687	0.459350509391075	0.65319	4.808835	0.00628665747020258	0.11177	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	3.019000	0.49318	4.603000	0.44005	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.1768:0.8232	9.558	0.38518	729	0.54495	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY 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	.	.	.	.	.	.	.	.	0.02632	1102.33	33	chr17	30999132	.	T	C	1102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.222;DP=754;ExcessHet=0;FS=0.866;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.563;SOR=0.906	GT:AD:DP:GQ:PL	0/1:44,41:85:99:1116,0,1314	18	0	1	0
chr17	34629173	34629173	G	A	exonic	TMEM132E	.	nonsynonymous SNV	TMEM132E:NM_001304438:exon4:c.G1307A:p.R436Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0194949643347	.	0.000399361	2.487e-05	9.664e-05	0	0	0	3.014e-05	0	0	3.23e-05	5	154602	rs550910621	1.71e-05	1.71e-05	8.168e-06	2.613e-05	5.974e-05	1.174e-05	9.92e-06	1.093e-05	8.81e-06	5.974e-05	0	0	2.519e-05	1.873e-05	0	1.709e-05	3.312e-05	0	4.594e-05	5.249e-05	2.569e-05	6.71e-05	0.0001	2.107e-05	1.525e-05	6.266e-05	4.289e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.038	0.42783	D	0.059	0.46406	T	0.953	0.54283	P	0.363	0.43280	B	0.000119	0.50451	D	0.162113	0.930136	0.36948	D	1.11	0.28643	L	2.27	0.17431	T	-1.35	0.33598	N	0.792	0.82761	-1.0832	0.06739	T	0.031	0.13330	T	10	0.39650047	0.55264	T	0.019495	0.41878	T	0.129	0.35316	0.469	0.54214	0.139678290688	0.13603	0.48518330334782384	0.48438	0.879030477368	0.69697	0.750298261642	0.74490	T	0.006017	0.20835	T	-0.257067	0.13245	T	-0.425508	0.30446	T	0.470415025949478	0.31546	T	0.933007	0.74900	D	0.09485963	0.22311	0.091193624	0.21427	0.09485963	0.22311	0.091193624	0.21427	.	.	.	.	.	0.107	0.20038	B	.;.	.;.	4.575848	0.72242	25.8	0.9988157852539068	0.95733	0.91984	0.54689	D	AEFDBI	0.351018	0.44426	N	0.238675249232053	0.53082	3.478731	0.271730517122798	0.53896	3.556392	0.00683629680578313	0.11320	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.77	3.77	0.42499	5.304000	0.65535	9.872000	0.82135	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0986:0.0:0.9014:0.0	9.654	0.39081	970	0.06235	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1628.33	35	chr17	34629173	.	G	A	1628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=770;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.215;SOR=0.605	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1642,0,1528	18	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	11138.3	106	chr17	37257713	.	C	T	11138.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.65;DP=1868;ExcessHet=38.2876;FS=429.8;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.138;SOR=13.755	GT:AD:DP:GQ:PL	0/1:39,51:91:99:558,0,492	1	0	18	0
chr17	39214269	39214269	T	C	exonic	STAC2	.	nonsynonymous SNV	STAC2:NM_001351360:exon8:c.A479G:p.K160R,STAC2:NM_198993:exon8:c.A905G:p.K302R	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.00961022670831	0.0038	0.000998403	0.0027	0.0007	0.0018	0	0.0003	0.0044	0.0011	0.0004	0.0030853	477	154602	rs79968874	0.0052	0.0052	0.0054	0.0049	0.0063	0.0051	0.0050	0.0061	0.0061	0.0008	0.0020	0.0028	0	0.0005	0.0024	0.0063	0.0052	0.0005	0.0031	0.0031	0.0034	0.0028	0.0050	0.0029	0.0028	0.0046	0.0044	0.0016	0	0.0020	0.0029	0	0.0005	0.0034	0.0050	0.0052	0.0004	0.437	0.09346	T	0.221	0.25827	T	0.999	0.77913	D	0.996	0.84481	D	0.000002	0.62929	D	0.056171	0.996922	0.43508	D	0.035	0.08059	N	1.0	0.41392	T	-1.38	0.34198	N	0.305	0.34444	-1.0267	0.21527	T	0.086	0.33466	T	10	0.020850867	0.00488	T	0.00961	0.25130	T	0.195	0.47612	.	.	0.563873649602	0.56049	0.42853757149955524	0.42770	0.516753251321	0.49562	0.62697994709	0.56717	T	0.059677	0.31181	T	-0.347689	0.04874	T	-0.2689	0.47930	T	0.0175535971238021	0.00489	T	0.851715	0.53598	D	0.38021097	0.59332	0.24482717	0.49958	0.44682375	0.63841	0.2702353	0.52911	-6.596	0.51022	T	0.2631071747427153	0.35499	0.086	0.10787	B	.	.	4.927665	0.81218	27.5	0.998393990317611	0.91972	0.31796	0.24427	N	AEFDGBCIJ	0.522992	0.54678	D	0.272290393196863	0.54750	3.639754	0.327424170507449	0.57156	3.880547	0.999999880732311	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	4.94	4.94	0.64645	3.666000	0.54277	4.211000	0.42532	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.720	0.62200	592	0.68746	SH3 domain|SH3 domain|SH3 domain|SH3 domain|Stac2, SH3 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	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	3371.83	35	chr17	39214269	.	T	C	3371.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.786;DP=886;ExcessHet=0.119;FS=1.991;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.062;SOR=0.574	GT:AD:DP:GQ:PL	0/1:88,87:175:99:2027,0,2166	17	0	2	0
chr17	40779628	40779628	C	T	splicing	KRT27	NM_181537:exon5:c.847-1G>A	.	.	.	427	1086	9	0	0	9	0.00412655	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151757	0.0077	9.696e-05	0.0003	0.0001	0	4.52e-05	0.0011	0.0561	0.0068175	1054	154602	rs187944199	0.0034	0.0034	0.0019	0.0049	0.0543	0.0033	0.0033	0.0530	0.0525	5.974e-05	8.946e-05	0	0	0	0.0028	2.338e-05	0.0039	0.0543	0.0018	0.0018	0.0009	0.0027	0.0541	0.0016	0.0015	0.0488	0.0467	0.0001	0	0	0	0.0006	0	0	1.47e-05	0	0.0541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0383149	0.56825	T	0.323996	0.89257	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.220290	0.94819	34	0.99456976980457279	0.65581	0.87659	0.47272	D	AEFDGBHCI	.	.	.	1.04428177177827	0.96953	15.37492	0.892118857653241	0.95220	13.41913	0.999999999682332	0.74766	0.095506	0.02484	0	0.078755	0.01978	0	0.134018	0.03721	0	0.109499	0.03221	0	0.985857	0.93731	5.52	5.52	0.82153	6.938000	0.75715	7.597000	0.61435	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.599000	0.31363	0.0:1.0:0.0:0.0	18.777	0.91881	65	0.97253	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	3907.83	37	chr17	40779628	.	C	T	3907.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.356;DP=1035;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=0.439;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,62:122:99:0|1:40779624_C_T:2423,0,2299:40779624	17	0	2	0
chr17	41123818	41123818	C	T	exonic	KRTAP4-12	.	nonsynonymous SNV	KRTAP4-12:NM_031854:exon1:c.G305A:p.R102H	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0034	0.00119808	0.0050	0.0004	0.0007	0	0.0208	0.0064	0.0079	0.0015	0.0040232	622	154602	rs200657918	0.0020	0.0020	0.0018	0.0021	0.0015	0.0019	0.0019	0.0014	0.0014	0	0.0008	0.0072	5.04e-05	0.0157	0	0.0015	0.0016	0.0010	0.0042	0.0046	0.0038	0.0047	0.0052	0.0039	0.0038	0.0048	0.0046	0.0005	0.0011	0.0024	0.0125	0	0.0165	0.0034	0.0052	0.0019	0.0011	0.08	0.33585	T	0.076	0.42614	T	0.001	0.07471	B	0.0	0.01387	B	0.645414	0.05891	U	1.263490	1	0.08975	N	2.995	0.85803	M	6.35	0.00549	T	-3.21	0.64826	D	0.067	0.03956	-0.9611	0.38974	T	0.003	0.00897	T	10	0.0074228644	0.00169	T	.	.	.	0.036	0.09122	.	.	0.465138348474	0.46142	0.07038911407437455	0.06975	0.0381829246423	0.04056	0.182914882898	0.00124	T	0.167722	0.51445	T	-0.65578	0.00067	T	-0.708644	0.05365	T	0.0619028380291112	0.07465	T	.	.	.	0.04194584	0.06271	0.08594223	0.19877	0.04194584	0.06271	0.08594223	0.19877	-10.749	0.78263	D	.	.	0.173	0.38025	B	.	.	-0.284855	0.02684	0.347	0.72841220925853634	0.10115	0.00856	0.03410	N	AEFBI	0.022926	0.01208	N	-1.35030861555699	0.03122	0.1389388	-1.53119175813612	0.02108	0.09646297	0.0211054300738595	0.13320	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.29	-4.59	0.03158	-2.124000	0.01405	-14.222000	0.00415	-2.740000	0.00200	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1645:0.4861:0.0:0.3494	3.848	0.08453	259	0.89842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001057	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	5473.83	35	chr17	41123818	.	C	T	5473.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.12;DP=1249;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.45;MQRankSum=0.754;QD=9.97;ReadPosRankSum=0.873;SOR=0.711	GT:AD:DP:GQ:PL	0/1:219,152:371:99:3737,0,3129	17	0	2	0
chr17	42856444	42856444	A	G	exonic	AOC3	.	nonsynonymous SNV	AOC3:NM_001277732:exon4:c.A557G:p.Q186R,AOC3:NM_003734:exon4:c.A2186G:p.Q729R	.	429	1091	1	1	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00615020415911	.	0.000399361	0.0002	0	0	0	0	1.618e-05	0	0.0014	7.68e-05	2	26028	rs563477961	0.0001	0.0001	6.398e-05	0.0002	0.0018	0.0001	9.567e-05	0.0016	0.0015	0	0	0	0	0	0.0005	8.993e-07	0.0002	0.0018	7.224e-05	7.218e-05	2.57e-05	0.0001	0.0023	3.969e-05	3.126e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.138	0.25873	T	0.112	0.40909	T	0.796	0.44790	P	0.229	0.38155	B	0.005187	0.33015	N	0.311105	0.755288	0.33975	D	2.51	0.73131	M	3.86	0.03624	T	-2.45	0.53577	N	0.231	0.25989	-0.9150	0.46220	T	0.006	0.02131	T	10	0.016300708	0.00343	T	0.00615	0.16111	T	0.087	0.25287	0.506	0.60078	0.355658859761	0.35178	0.45257617909043035	0.45175	2.02385248227	0.94028	0.397215515375	0.24681	T	0.136236	0.46849	T	-0.514425	0.00474	T	-0.54709	0.17605	T	0.128028553309436	0.15198	T	0.675932	0.63286	T	0.21387517	0.43778	0.20117998	0.44086	0.21387517	0.43778	0.20117998	0.44085	-4.575	0.31856	T	.	.	0.083	0.09045	B	.;.;.	.;.;.	3.198467	0.43488	21.7	0.99540454545428525	0.70461	0.94661	0.61898	D	AEFDGBI	0.338412	0.43589	N	0.000868540980585766	0.41895	2.514201	0.121541734632932	0.45653	2.824645	0.99779972851451	0.36039	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.91	3.79	0.42757	1.129000	0.30994	6.686000	0.56326	0.751000	0.87719	0.973000	0.34540	1.000000	0.68203	0.878000	0.41950	0.9241:0.0:0.0759:0.0	10.902	0.46265	262	0.89730	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001058	0.000000	0.001359	0.008197	0.000000	0.000000	0.000000	0.000000	0.02632	2420.33	34	chr17	42856444	.	A	G	2420.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.757;DP=836;ExcessHet=0;FS=1.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.38;MQRankSum=0.738;QD=11.86;ReadPosRankSum=-1.286;SOR=0.578	GT:AD:DP:GQ:PL	0/1:101,103:204:99:2434,0,2784	18	0	1	0
chr17	45475484	45475484	T	A	exonic	PLEKHM1	.	nonsynonymous SNV	PLEKHM1:NM_001352825:exon4:c.A539T:p.Y180F,PLEKHM1:NM_014798:exon4:c.A539T:p.Y180F	Osteopetrosis, autosomal recessive 6	.	.	.	.	.	.	.	.	.	.	2199715	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.251	0.020981665443	.	.	0.0001	9.634e-05	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs750041184	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	8.684e-05	8.16e-05	0	0	0.0028	0	1.872e-05	0.0002	0.0001	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0001	9.154e-05	7.709e-05	6.805e-05	5.088e-05	0	0	0	0.0032	0	0	0	0.0001	0.0005	0	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	2.185	0.61350	M	1.61	0.28391	T	-2.09	0.47683	N	0.556	0.58117	-0.9127	0.46518	T	0.162	0.49781	T	10	0.07069197	0.10319	T	0.020982	0.43675	T	0.251	0.56024	.	.	0.485485078511	0.48178	0.3066515638813639	0.30578	1.6978298898	0.90241	0.790589809418	0.80533	T	0.092697	0.39058	T	-0.169508	0.25310	T	-0.276712	0.47141	T	0.221671022927906	0.21547	T	.	.	.	0.4122387	0.61571	0.19525473	0.43193	0.4122387	0.61572	0.19525473	0.43192	-9.081	0.68216	D	.	.	0.209	0.43612	B	.;.;.	.;.;.	4.532114	0.71161	25.6	0.94278669591634079	0.24572	0.99110	0.91373	D	AEFBI	0.885477	0.81603	D	0.696697273460772	0.79416	7.072963	0.67991035442628	0.80854	7.392701	0.99962295896964	0.41093	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	7.740000	0.83913	7.780000	0.68649	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.732	0.62277	368	0.84463	RUN domain|RUN domain|RUN domain;RUN domain|RUN domain|RUN domain;RUN domain|RUN domain|RUN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1721.33	35	chr17	45475484	.	T	A	1721.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.63;DP=1012;ExcessHet=0;FS=2.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.56;MQRankSum=0.177;QD=10.69;ReadPosRankSum=0.86;SOR=0.82	GT:AD:DP:GQ:PL	0/1:96,65:161:99:1735,0,2437	18	0	1	0
chr17	46297599	46297599	C	G	exonic	LRRC37A	.	nonsynonymous SNV	LRRC37A:NM_014834:exon1:c.C2466G:p.H822Q	.	589	917	12	4	0	20	0.0107875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.00291515082436	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879157619	0.0040	0.0033	0.0035	0.0045	0.0098	0.0039	0.0038	0.0091	0.0088	0.0023	0.0014	0.0009	0.0010	0.0005	0.0075	0.0040	0.0041	0.0098	0.0023	0.0033	0.0023	0.0023	0.0042	0.0020	0.0019	0.0023	0.0021	0.0023	0	0.0014	0	0	0	0.0076	0.0027	0.0028	0.0042	1.0	0.00964	T	0.572	0.08746	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.83	0.00276	N	0.44	0.56609	T	3.12	0.00125	N	0.06	0.04426	-0.9994	0.30087	T	0.026	0.11220	T	9	0.009739041	0.00219	T	0.002915	0.06162	T	0.123	0.34020	0.265	0.21103	0.043077524339	0.03247	0.03291016964179309	0.03239	.	.	0.548382341862	0.45629	T	0.001844	0.01261	T	-0.342609	0.05209	T	-0.72991	0.04331	T	0.057750507428982	0.06810	T	0.360864	0.08314	T	0.024401037	0.01267	0.033019062	0.02128	0.024401037	0.01267	0.033019062	0.02128	-1.674	0.02162	T	.	.	0.058	0.00949	B	.;.	.;.	-0.460319	0.01997	0.176	0.3274898480012719	0.01914	0.00012	0.00170	N	AEFI	0.011459	0.00102	N	-1.96619832781649	0.00250	0.01070619	-1.89301858655631	0.00505	0.02239063	8.00735564224649E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.36	0.137	0.14085	-0.016000	0.12550	0.224000	0.16109	-0.925000	0.02178	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1593:0.2331:0.3705:0.2371	0.864	0.01124	0	0.99858	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	241.33	18	chr17	46297599	.	C	G	241.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.824;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=24.59;MQRankSum=-2.893;QD=7.78;ReadPosRankSum=-0.527;SOR=0.352	GT:AD:DP:GQ:PL	0/1:19,12:31:99:255,0,468	18	0	1	0
chr17	47944659	47944659	G	A	exonic	PNPO	.	nonsynonymous SNV	PNPO:NM_018129:exon3:c.G307A:p.G103R	Pyridoxamine 5'-phosphate oxidase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203478	not_provided|Pyridoxal_phosphate-responsive_seizures	MedGen:C3661900|MONDO:MONDO:0012407,MedGen:C1864723,OMIM:610090,Orphanet:79096	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.598	0.15179085555	.	.	4.119e-05	9.614e-05	0	0	0	4.496e-05	0	6.058e-05	3.23e-05	5	154602	rs781657980	3.42e-05	3.42e-05	4.22e-05	2.613e-05	4.047e-05	2.631e-05	2.375e-05	3.085e-05	2.753e-05	2.987e-05	0	0	0	0	0	4.047e-05	4.967e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-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	0.012	0.56456	D	0.047	0.52060	D	0.996	0.68779	D	0.842	0.60272	P	0.000006	0.62929	D	0.144297	0.997874	0.44275	D	2.22	0.62911	M	-0.77	0.76168	T	-4.26	0.80085	D	0.388	0.49146	0.180	0.85577	D	0.572	0.84512	D	10	0.7498121	0.75554	D	0.151791	0.83330	D	0.598	0.84074	0.687	0.82462	0.88106158449	0.87989	0.5570778255966239	0.55634	1.3560724668	0.84186	0.487429738045	0.37083	T	0.10372	0.71370	T	-0.111219	0.34567	T	-0.205852	0.54091	T	0.852330982685089	0.50367	D	0.987901	0.96026	D	0.76399416	0.81689	0.6533199	0.79709	0.76399416	0.81691	0.6533199	0.79709	-7.309	0.62283	T	0.4186923940849868	0.50780	0.451	0.62484	A	.;.;.;.;.	.;.;.;.;.	4.392070	0.67793	25.1	0.9991739149074319	0.98518	0.84396	0.43478	D	AEFBI	0.490391	0.52789	N	0.544543893827985	0.69751	5.401562	0.483163925357307	0.66875	5.009293	0.99998878334009	0.51787	0.706548	0.73137	0	0.658105	0.61773	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.22	4.25	0.49658	3.117000	0.50099	6.550000	0.55908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.1698:0.0:0.8302:0.0	9.629	0.38930	523	0.74147	Pyridoxamine 5'-phosphate oxidase, putative;Pyridoxamine 5'-phosphate oxidase, putative;.;.;Pyridoxamine 5'-phosphate oxidase, putative	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	962.33	33	chr17	47944659	.	G	A	962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=676;ExcessHet=0;FS=1.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.5;ReadPosRankSum=-2.022;SOR=0.509	GT:AD:DP:GQ:PL	0/1:20,35:55:99:976,0,444	18	0	1	0
chr17	58599361	58599361	C	G	exonic	TEX14	.	nonsynonymous SNV	TEX14:NM_001201457:exon14:c.G2002C:p.E668Q,TEX14:NM_031272:exon14:c.G1984C:p.E662Q,TEX14:NM_198393:exon14:c.G1984C:p.E662Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.0429250001694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.157e-06	6.156e-06	6.806e-06	5.5e-06	0.0002	2.9e-06	2.1e-06	3.765e-05	2.662e-05	2.987e-05	0	0	0	0	0.0002	0	0	8.115e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.247	0.23914	T	0.999	0.77913	D	0.958	0.70027	D	0.001435	0.39044	N	0.181885	1	0.08975	N	2.215	0.62545	M	-1.44	0.80815	T	-1.22	0.30964	N	0.194	0.29313	-0.2033	0.77585	T	0.587	0.85189	D	10	0.226096	0.39456	T	0.042925	0.60718	D	0.284	0.60219	0.075	0.00517	0.878218186503	0.87702	0.08794769254336768	0.08727	0.236152907245	0.26150	0.389699995518	0.23627	T	0.075948	0.35301	T	0.0111168	0.53177	T	-0.221808	0.52562	T	0.892991065979004	0.54416	D	0.823718	0.48487	T	0.13162322	0.30673	0.12895839	0.31016	0.13162322	0.30673	0.12895839	0.31015	-5.443	0.41350	T	.	.	0.195	0.41678	B	.;.;.	.;.;.	3.070741	0.41274	21.3	0.99723309235948454	0.82195	0.17154	0.19713	N	AEFDGBHCI	0.128456	0.24623	N	0.320829837296694	0.57219	3.888428	0.23513607213793	0.51808	3.360207	0.00514874875894249	0.10842	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.64	5.64	0.86480	1.720000	0.37644	7.563000	0.60525	0.599000	0.40250	0.099000	0.22773	1.000000	0.68203	0.193000	0.21690	0.0:0.9135:0.0:0.0865	10.725	0.45262	334	0.86273	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2210.33	33	chr17	58599361	.	C	G	2210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.345;DP=1138;ExcessHet=0;FS=1.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-1.824;SOR=0.833	GT:AD:DP:GQ:PL	0/1:110,86:196:99:2224,0,3128	18	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	691.29	68	chr17	61968034	.	C	G	691.29	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.705;DP=1218;ExcessHet=25.4433;FS=198.029;InbreedingCoeff=-0.6911;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.43;SOR=10.515	GT:AD:DP:GQ:PL	0/1:26,14:40:29:29,0,256	8	0	11	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.580	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	239.62	33	chr17	63941038	.	C	G	239.62	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-5.535;DP=3325;ExcessHet=0.3672;FS=296.962;InbreedingCoeff=-0.1451;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.198;SOR=11.144	GT:AD:DP:GQ:PL	0/1:168,50:250:6:6,0,3628	12	0	3	4
chr17	67996145	67996145	T	-	exonic	C17orf58	.	frameshift deletion	C17orf58:NM_001382359:exon1:c.54delA:p.A19Hfs*196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	64.53	.	chr17	67996144	.	CT	C	64.53	.	AC=2;AF=0.1;AN=20;DP=18;ExcessHet=0;FS=0;InbreedingCoeff=0.2518;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.26;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:75,6,0	9	1	0	9
chr17	69096286	69096286	C	T	exonic	ABCA6	.	nonsynonymous SNV	ABCA6:NM_080284:exon25:c.G3362A:p.R1121H	.	495	1023	3	1	0	5	0.00243784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.0143360400734	0.0007	0.000399361	0.0009	0.0004	0.0002	0.0007	0	0.0008	0.0012	0.0027	0.0007827	121	154602	rs144019394	0.0005	0.0006	0.0005	0.0006	0.0017	0.0005	0.0005	0.0015	0.0014	0.0001	0.0002	0	0.0003	5.901e-05	0.0011	0.0005	0.0004	0.0017	0.0005	0.0005	0.0005	0.0005	0.0023	0.0004	0.0004	0.0013	0.0010	0.0001	0	0.0009	0	0.0002	0	0.0034	0.0007	0.0009	0.0023	0.071	0.35165	T	0.054	0.47097	T	0.224	0.30397	B	0.168	0.35187	B	0.027657	0.25723	N	0.275088	0.897383	0.27768	N	2.27	0.64531	M	-2.03	0.85613	D	-3.56	0.68880	D	0.18	0.19459	-0.0775	0.80609	T	0.536	0.82825	D	10	0.012835532	0.00274	T	0.014336	0.34391	T	0.319	0.64112	.	.	0.843052881141	0.84155	0.20294062263198456	0.20211	0.0405336602796	0.04339	0.227598533034	0.01794	T	0.489561	0.81473	T	-0.414011	0.01870	T	-0.373333	0.36498	T	0.0264977275820155	0.01473	T	0.861114	0.55479	D	0.114191584	0.26961	0.09125525	0.21444	0.114191584	0.26960	0.09125525	0.21444	-5.34	0.40337	T	.	.	0.089	0.12132	B	.	.	2.676630	0.34910	19.76	0.99506991195112859	0.68381	0.60632	0.31251	D	AEFBI	0.143927	0.26676	N	-0.0661035046317299	0.38886	2.284494	-0.0417158210923587	0.37851	2.22187	0.882048462396424	0.25645	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	4.61	3.61	0.40494	0.702000	0.25307	1.092000	0.23989	0.594000	0.32500	0.023000	0.19925	0.820000	0.27118	0.961000	0.51904	0.0:0.865:0.0:0.135	7.034	0.24160	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	377.33	35	chr17	69096286	.	C	T	377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.283;DP=663;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.244;SOR=0.619	GT:AD:DP:GQ:PL	0/1:20,17:37:99:391,0,456	18	0	1	0
chr17	74893569	74893569	A	0	exonic	FADS6	.	.	.	.	427	899	3	0	193	196	0.00166574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	810.55	60	chr17	74893569	.	A	*	810.55	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.891;DP=1146;ExcessHet=0.6689;FS=3.245;InbreedingCoeff=0.0483;MLEAC=7;MLEAF=0.184;MQ=59.31;MQRankSum=-2.9;QD=2.05;ReadPosRankSum=2.93;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,22:71:99:1|0:74893497_C_CGGTTCCATGGGCTCCGTA:695,0,1857:74893497	13	1	5	0
chr17	76212479	76212479	C	T	exonic	RNF157	.	nonsynonymous SNV	RNF157:NM_001330501:exon2:c.G92A:p.S31N,RNF157:NM_052916:exon2:c.G92A:p.S31N	.	439	1032	50	1	0	52	0.0245747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0014	0.00439297	0.0040	0.0002	0.0028	0.0002	0	0.0024	0.0089	0.0172	0.0035834	554	154602	rs145563025	0.0025	0.0025	0.0019	0.0031	0.0294	0.0024	0.0024	0.0258	0.0244	0.0007	0.0025	0.0070	2.525e-05	9.374e-05	0.0294	0.0012	0.0038	0.0177	0.0020	0.0020	0.0016	0.0024	0.0191	0.0018	0.0017	0.0160	0.0148	0.0002	0	0.0039	0.0069	0.0006	0	0.0170	0.0015	0.0047	0.0191	0.722	0.03903	T	1.0	0.01155	T	0.04	0.22573	B	0.034	0.28435	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.165	0.08973	N	1.35	0.34648	T	1.93	0.00441	N	0.117	0.15469	-1.0613	0.11434	T	0.028	0.11838	T	10	0.0083604455	0.00190	T	.	.	.	0.102	0.29158	.	.	0.474010150167	0.47029	0.43531005608033446	0.43448	0.130603283098	0.14734	0.849575042725	0.89550	D	7.26E-4	0.00333	T	-0.569197	0.00224	T	-0.576109	0.14894	T	0.0164951619601506	0.00413	T	0.791921	0.43410	T	0.23026057	0.45778	0.20029142	0.43953	0.23026057	0.45778	0.20029142	0.43952	1.219	0.00124	T	.	.	0.134	0.29144	B	.;.;.;.	.;.;.;.	2.579462	0.33439	19.34	0.38023827303438879	0.02540	0.95870	0.66508	D	AEFGBI	0.533016	0.55264	D	-0.436235635924758	0.24210	1.305587	-0.169370979244719	0.32671	1.861016	0.985398335579897	0.30879	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.79	4.82	0.61641	1.369000	0.33832	.	.	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9262:0.0:0.0738	14.122	0.64726	946	0.12043	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022704	0.020408	0.020436	0.026316	0.050000	0.025862	0.036585	0.018939	0.02632	796.33	39	chr17	76212479	.	C	T	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.724;DP=736;ExcessHet=0;FS=1.078;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.437;SOR=1.022	GT:AD:DP:GQ:PL	0/1:31,31:62:99:810,0,875	18	0	1	0
chr17	78484959	78484959	A	C	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon48:c.T7558G:p.F2520V	.	402	1119	1	0	0	1	0.000446628	.	.	.	2228243	not_provided|DNAH17-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.638	0.0392311421552	0.0022	0.000798722	0.0030	0.0008	0.0006	0	0.0083	0.0043	0.0041	0.0003	0.0023221	359	154602	rs200203879	0.0028	0.0028	0.0029	0.0026	0.0031	0.0027	0.0027	0.0030	0.0030	0.0002	0.0009	0.0009	0	0.0074	0	0.0031	0.0020	0.0002	0.0023	0.0023	0.0020	0.0026	0.0032	0.0021	0.0020	0.0028	0.0027	0.0004	0	0.0018	0.0006	0	0.0073	0	0.0032	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999888	0.50402	D	.	.	.	0.76	0.49919	T	.	.	.	0.909	0.91047	0.299	0.87541	D	0.466	0.79400	T	7	0.02804926	0.00942	T	0.039231	0.58687	D	0.638	0.86181	.	.	0.50810274593	0.50449	0.7715269705847674	0.77102	.	.	0.78618401289	0.79862	T	.	.	.	-0.14603	0.28934	T	0.016942	0.71433	D	0.123565406680315	0.14775	T	0.99608	0.98641	D	0.25560817	0.48596	0.38981524	0.63792	0.22494607	0.45146	0.4279177	0.66522	-11.324	0.81404	D	0.6786684376274992	0.75476	0.806	0.77579	P	.;.	.;.	4.961691	0.82045	27.7	0.99303567908286727	0.58722	0.97082	0.72584	D	AEFDGBHCI	0.931600	0.92064	D	0.730235785471535	0.81615	7.563809	0.68934943689795	0.81570	7.557687	1.0	0.98316	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.96	4.96	0.65153	9.183000	0.94011	10.939000	0.84330	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.640	0.68319	908	0.22609	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	997.33	36	chr17	78484959	.	A	C	997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.838;DP=741;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=0.393;SOR=0.881	GT:AD:DP:GQ:PL	0/1:68,47:115:99:1011,0,1676	18	0	1	0
chr17	78567034	78567034	C	T	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon10:c.G1417A:p.D473N	.	432	1078	11	1	0	13	0.00599355	.	.	.	3206422	DNAH17-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.134	.	0.0008	0.0135783	0.0103	0.0014	0.0005	0.0397	0.0086	0.0024	0.0070	0.0406	0.0086351	1335	154602	rs140052280	0.0046	0.0046	0.0036	0.0055	0.0427	0.0045	0.0044	0.0410	0.0403	0.0014	0.0003	0	0.0427	0.0113	0.0028	0.0007	0.0047	0.0375	0.0037	0.0037	0.0028	0.0047	0.0409	0.0035	0.0034	0.0362	0.0344	0.0011	0	0.0006	0	0.0308	0.0062	0	0.0012	0.0038	0.0409	0.688	0.04328	T	.	.	.	.	.	.	.	.	.	0.866865	0.07151	N	1.083630	0.893633	0.27836	N	0.805	0.20218	L	0.64	0.52867	T	-0.61	0.18042	N	0.297	0.33578	-1.0699	0.09436	T	0.043	0.18493	T	10	0.0044732094	0.00092	T	.	.	.	0.134	0.36365	.	.	0.0806252709748	0.07271	0.13456773948441741	0.13380	.	.	0.36636903882	0.20309	T	0.001953	0.01365	T	-0.618087	0.00113	T	-0.633455	0.10154	T	0.015807688875452	0.00369	T	0.173783	0.01661	T	0.085617736	0.19868	0.11400838	0.27517	0.07275373	0.16206	0.11400838	0.27517	-5.16	0.38533	T	.	.	0.088	0.11845	B	.;.	.;.	2.126576	0.27073	17.34	0.67101720989324876	0.08254	0.94463	0.61246	D	AEFDBI	0.647372	0.62257	D	-0.752712852089215	0.14559	0.7262894	-0.616372630507367	0.19073	1.021711	0.964394911626242	0.28757	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.92	3.95	0.44952	5.109000	0.64456	4.633000	0.44124	-0.187000	0.09635	1.000000	0.71638	1.000000	0.68203	0.020000	0.11549	0.0:0.9157:0.0:0.0843	11.754	0.51130	887	0.27948	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	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	0.006552	0.005051	0.002717	0.000000	0.000000	0.000000	0.009202	0.026515	0.02632	1475.33	41	chr17	78567034	.	C	T	1475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.283;DP=760;ExcessHet=0;FS=1.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-2.226;SOR=0.564	GT:AD:DP:GQ:PL	0/1:73,62:135:99:1489,0,1849	18	0	1	0
chr17	78572790	78572790	A	C	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon3:c.T450G:p.F150L	.	416	1097	9	0	0	9	0.00408534	.	.	.	3220438	DNAH17-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.148	.	0.0005	0.0147764	0.0102	0.0003	0.0005	0.0323	0.0086	0.0023	0.0082	0.0441	0.0084734	1310	154602	rs142471902	0.0043	0.0043	0.0033	0.0053	0.0389	0.0042	0.0042	0.0378	0.0373	0.0003	0.0002	0	0.0319	0.0113	0.0029	0.0007	0.0045	0.0389	0.0033	0.0033	0.0023	0.0044	0.0419	0.0031	0.0030	0.0371	0.0353	0.0002	0	0.0005	0	0.0264	0.0060	0	0.0012	0.0028	0.0419	0.404	0.10345	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.971119	0.25670	N	1.5	0.37844	L	2.02	0.21473	T	-3.17	0.64363	D	0.412	0.45237	-0.9895	0.32727	T	0.011	0.04227	T	7	0.0059226453	0.00133	T	.	.	.	0.148	0.39182	0.515	0.61459	0.0297737177859	0.01360	0.36731788695154	0.36645	.	.	0.640616357327	0.58651	T	0.01284	0.11210	T	-0.521488	0.00431	T	-0.493289	0.23046	T	0.0305341964276499	0.02072	T	0.461354	0.13375	T	0.07422574	0.16643	0.2112942	0.45551	0.07857167	0.17899	0.2112942	0.45550	-3.439	0.15587	T	.	.	0.816	0.78022	P	.;.	.;.	-1.235922	0.00496	0.011	0.64140750593406459	0.07412	0.14547	0.18460	N	AEFDGBHCI	0.155630	0.28086	N	-0.878843582670899	0.11347	0.5471004	-0.987057987809347	0.10075	0.5051928	2.41229368279013E-4	0.06141	0.517182	0.21443	0	0.610034	0.51514	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.52	-3.42	0.04521	-1.199000	0.03141	-2.297000	0.03934	-0.041000	0.17446	0.006000	0.17386	0.000000	0.08366	0.020000	0.11549	0.4875:0.0:0.5125:0.0	12.925	0.57652	897	0.25382	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.026515	0.02632	1589.33	33	chr17	78572790	.	A	C	1589.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.541;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.21;SOR=0.69	GT:AD:DP:GQ:PL	0/1:57,67:124:99:1603,0,1286	18	0	1	0
chr17	81535112	81535112	T	C	exonic	FSCN2	.	nonsynonymous SNV	FSCN2:NM_001077182:exon2:c.T887C:p.I296T,FSCN2:NM_012418:exon2:c.T887C:p.I296T	Retinitis pigmentosa 30	0	1521	1	0	0	1	0.000328623	.	.	.	1033775	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.157443045061	0.0002	.	5.998e-05	0	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs376328590	3.619e-05	3.489e-05	3.143e-05	4.107e-05	4.363e-05	2.784e-05	2.512e-05	3.362e-05	3.012e-05	3.171e-05	0	0	0	0	0	4.363e-05	0	2.532e-05	4.609e-05	4.598e-05	6.432e-05	2.698e-05	7.361e-05	2.113e-05	1.529e-05	2.85e-05	1.861e-05	4.84e-05	0	0	0	0	0	0	7.361e-05	0	0	0.015	0.56456	D	0.033	0.53426	D	0.011	0.15914	B	0.02	0.19048	B	.	.	.	.	0.960112	0.38163	D	2.85	0.82803	M	1.41	0.33412	T	-3.24	0.65171	D	0.562	0.58629	-0.8949	0.48493	T	0.153	0.48205	T	9	0.32506883	0.49822	T	0.157443	0.83802	D	0.148	0.39182	.	.	0.485776496936	0.48210	0.46197777448680655	0.46115	0.441832569809	0.44166	0.698247909546	0.66891	T	0.427891	0.77721	T	-0.312599	0.07521	T	-0.379386	0.35794	T	0.860182404518127	0.51068	D	0.887511	0.61533	D	0.26624388	0.49695	0.23019809	0.48115	0.26624388	0.49694	0.23019809	0.48114	-7.191	0.55416	T	0.5805078816045179	0.64736	0.157	0.34732	B	.;.	.;.	3.877921	0.56346	23.7	0.99806024116230352	0.88995	0.87476	0.47028	D	AEFGBCI	0.620656	0.60564	D	0.194422136520169	0.50931	3.278578	0.198838317345982	0.49784	3.177513	0.972030509490603	0.29337	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	5.01	2.77	0.31614	5.726000	0.68163	0.869000	0.22297	0.581000	0.30040	1.000000	0.71638	0.575000	0.25592	0.998000	0.85391	0.0:0.158:0.0:0.842	8.878	0.34512	.	.	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	1	0	0	0	0	0	0	0.002364	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.023256	0.02632	1964.33	35	chr17	81535112	.	T	C	1964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.169;DP=803;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.388;SOR=0.652	GT:AD:DP:GQ:PL	0/1:67,86:153:99:1978,0,1470	18	0	1	0
chr17	81813555	81813556	AG	-	exonic	GCGR	.	frameshift deletion	GCGR:NM_000160:exon14:c.1300_1301del:p.R434Gfs*37	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002513	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.020408	0.02632	2558.29	35	chr17	81813554	.	CAG	C	2558.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.928;DP=772;ExcessHet=0;FS=0.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.38;ReadPosRankSum=0.781;SOR=0.629	GT:AD:DP:GQ:PL	0/1:65,67:132:99:2572,0,2483	18	0	1	0
chr18	48940	48940	C	G	exonic	TUBB8B	.	nonsynonymous SNV	TUBB8B:NM_001358689:exon3:c.G277C:p.G93R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.00490425080317	.	.	0.0007	0.0073	0.0002	0	0	9.111e-05	0	0	6.5e-06	1	154602	rs537178211	0.0001	0.0003	0.0001	9.427e-05	0.0005	9.35e-05	8.868e-05	0.0003	0.0003	0.0005	4.489e-05	0	0	7.516e-05	0	0.0001	0.0001	2.336e-05	0.0004	0.0024	0.0004	0.0005	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0.0003	0	0	9.636e-05	0	4.437e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000007	0.62929	U	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.6553	0.62482	T	0.269	0.64013	T	5	0.04185036	0.02877	T	0.004904	0.12318	T	0.284	0.60219	.	.	0.736965364055	0.73461	0.4643921811040861	0.46358	.	.	.	.	.	.	.	.	0.0127472	0.53399	T	-0.219466	0.52789	T	0.736375331878662	0.42544	D	0.810819	0.46223	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.45011	B	.	.	2.806338	0.36928	20.4	0.94358430475407418	0.24714	0.86620	0.45938	D	AEFBI	0.475238	0.51916	N	0.261652359313439	0.54217	3.587921	-0.165101062305241	0.32831	1.871784	9.97561248961988E-4	0.08103	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	5.590000	0.67223	4.603000	0.44005	0.312000	0.19173	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.9994:0.0:6.0E-4	5.991	0.18695	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	37.33	34	chr18	48940	.	C	G	37.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.431;DP=616;ExcessHet=0;FS=1.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.38;MQRankSum=-4.963;QD=0.93;ReadPosRankSum=0.095;SOR=1.275	GT:AD:DP:GQ:PL	0/1:34,6:40:51:51,0,941	18	0	1	0
chr18	2920363	2920363	C	A	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon20:c.G2621T:p.C874F,LPIN2:NM_001375809:exon20:c.G2621T:p.C874F,LPIN2:NM_014646:exon20:c.G2621T:p.C874F	Majeed syndrome	0	1481	39	2	0	43	0.0143095	.	.	.	232039	LPIN2-related_disorder|not_provided|Majeed_syndrome|Autoinflammatory_syndrome	.|MedGen:C3661900|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.362	0.0242335918851	0.0002	0.00179712	0.0015	9.701e-05	0.0002	0	0	0.0004	0.0022	0.0088	0.0012807	198	154602	rs201160155	0.0008	0.0008	0.0006	0.0011	0.0092	0.0008	0.0008	0.0087	0.0085	0.0001	0.0002	0.0002	2.519e-05	0	0.0057	0.0003	0.0011	0.0092	0.0004	0.0004	0.0003	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	2.405e-05	0	6.533e-05	0	0	0	0.0034	0.0003	0.0005	0.0087	0.205	0.20002	T	0.71	0.05525	T	0.011	0.15914	B	0.015	0.17295	B	0.000167	0.48594	D	0.270733	0.999983	0.54805	D	2.12	0.58754	M	-1.41	0.80560	T	-6.6	0.92042	D	0.258	0.29197	-0.4306	0.71047	T	0.384	0.74002	T	10	0.008627355	0.00195	T	0.024234	0.47226	T	0.362	0.68230	.	.	0.416204396243	0.41236	0.8197850407621243	0.81935	0.360878218772	0.37748	0.71268081665	0.68982	T	0.325968	0.69663	T	-0.283188	0.10333	T	-0.172875	0.57180	T	0.0576534892228963	0.06794	T	0.89551	0.63622	D	0.47934437	0.65860	0.48347694	0.70096	0.47934437	0.65861	0.48347694	0.70096	-8.199	0.62419	D	0.09303421256937064	0.06075	0.101	0.17657	B	.	.	3.219975	0.43869	21.8	0.90758231324376637	0.20008	0.91134	0.52927	D	AEFDGBCI	0.578082	0.57943	D	0.0216641723337433	0.42839	2.588929	0.191777639853672	0.49395	3.143227	0.999999985977376	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.62	4.74	0.59717	1.656000	0.36971	4.817000	0.45088	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9287:0.0:0.0713	14.305	0.65932	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.005435	0.002924	0.000000	0.008621	0.006098	0.007576	0.05263	2032.83	37	chr18	2920363	.	C	A	2032.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.286;DP=810;ExcessHet=0.119;FS=1.214;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.946;SOR=0.821	GT:AD:DP:GQ:PL	0/1:42,47:89:99:1187,0,1080	17	0	2	0
chr18	3188929	3188929	G	A	exonic	MYOM1	.	nonsynonymous SNV	MYOM1:NM_003803:exon4:c.C590T:p.T197M,MYOM1:NM_019856:exon4:c.C590T:p.T197M	.	428	1058	35	1	0	37	0.0171853	.	.	.	230889	not_specified|Hypertrophic_cardiomyopathy|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.021	.	0.0006	0.00379393	0.0025	0.0001	0.0005	0	0.0002	0.0011	0.0033	0.0130	0.0021669	335	154602	rs142735495	0.0014	0.0014	0.0010	0.0018	0.0131	0.0014	0.0013	0.0125	0.0122	6.011e-05	0.0006	0.0047	2.519e-05	0.0002	0.0069	0.0006	0.0020	0.0131	0.0010	0.0010	0.0007	0.0012	0.0136	0.0008	0.0008	0.0109	0.0100	9.728e-05	0	0.0013	0.0017	0	0	0.0102	0.0006	0.0029	0.0136	0.251	0.22138	T	0.107	0.38016	T	0.396	0.42471	B	0.055	0.36942	B	0.215705	0.03418	N	2.814250	1	0.08975	N	0	0.06538	N	0.89	0.50976	T	0.51	0.02898	N	0.078	0.10340	-1.0844	0.06517	T	0.043	0.18285	T	10	0.0035447478	0.00064	T	.	.	.	0.021	0.04004	.	.	0.35139820857	0.34749	0.1561886216387074	0.15539	0.143767449936	0.16234	0.231919467449	0.02114	T	0.015219	0.12811	T	-0.648357	0.00074	T	-0.693066	0.06213	T	0.0103052720743745	0.00140	T	0.444256	0.21082	T	0.01401323	0.00077	0.03353223	0.02263	0.013964177	0.00075	0.032004338	0.01871	-8.61	0.65313	D	.	.	0.252	0.52401	B	.;.;.	.;.;.	-0.279013	0.02711	0.355	0.67436098881155082	0.08354	0.00836	0.03355	N	AEFGBI	0.050213	0.08755	N	-1.69927224167309	0.00845	0.03652483	-1.8031923915074	0.00749	0.03338637	0.971880573309902	0.29324	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	2.23	-1.56	0.08080	-1.165000	0.03242	-0.665000	0.07962	-3.406000	0.00088	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.3322:0.1804:0.4874:0.0	4.442	0.11002	870	0.31527	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.004076	0.014620	0.000000	0.000000	0.006098	0.003788	0.02632	3664.33	49	chr18	3188929	.	G	A	3664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.353;DP=1103;ExcessHet=0;FS=1.411;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=3.3;SOR=0.596	GT:AD:DP:GQ:PL	0/1:144,147:291:99:3678,0,3616	18	0	1	0
chr18	9255473	9255473	A	G	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.A2137G:p.T713A,ANKRD12:NM_001204056:exon8:c.A2137G:p.T713A,ANKRD12:NM_015208:exon9:c.A2206G:p.T736A	.	440	1057	25	0	0	25	0.0116877	.	.	.	3547058	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0076	0.00299521	0.0091	0.0024	0.0050	0	0.0080	0.0130	0.0082	0.0056	0.0087062	1346	154602	rs114230285	0.0092	0.0091	0.0094	0.0090	0.0104	0.0090	0.0090	0.0102	0.0102	0.0019	0.0043	0.0050	2.587e-05	0.0059	0.0078	0.0104	0.0082	0.0058	0.0059	0.0059	0.0066	0.0053	0.0099	0.0056	0.0055	0.0092	0.0090	0.0018	0	0.0040	0.0049	0	0.0036	0.0034	0.0099	0.0085	0.0048	0.433	0.09458	T	0.797	0.04142	T	0.0	0.02946	B	0.0	0.04355	B	0.035276	0.24665	N	0.444910	1	0.08975	N	-0.06	0.04898	N	-2.99	0.92108	D	-0.33	0.12472	N	0.074	0.04790	-0.7407	0.58417	T	0.291	0.66288	T	10	0.0035377443	0.00063	T	.	.	.	0.162	0.41843	.	.	0.151262610727	0.14761	0.007321108822763013	0.00698	.	.	0.310919225216	0.12045	T	0.004863	0.04280	T	-0.505411	0.00533	T	-0.48644	0.23764	T	0.000794020032158277	0.00007	T	0.50265	0.15781	T	0.023449413	0.01085	0.015422944	0.00007	0.023449413	0.01085	0.015422944	0.00007	-3.784	0.20834	T	.	.	0.067	0.02428	B	.;.	.;.	-0.456095	0.02011	0.179	0.75694506732214184	0.11175	0.01337	0.04602	N	AEFBI	0.072961	0.14577	N	-1.06985989756284	0.07203	0.3339344	-0.984005802213982	0.10145	0.5090687	0.52689607684772	0.21143	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.95	-0.551	0.11230	-0.562000	0.06041	0.092000	0.14529	-0.113000	0.14837	0.000000	0.06391	0.067000	0.22148	0.970000	0.54328	0.3209:0.1537:0.3752:0.1502	1.711	0.02718	356	0.85138	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010574	0.000000	0.013587	0.017544	0.050000	0.000000	0.006098	0.015152	0.02632	394.33	33	chr18	9255473	.	A	G	394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=700;ExcessHet=0;FS=1.223;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=0.561;SOR=0.845	GT:AD:DP:GQ:PL	0/1:28,16:44:99:408,0,815	18	0	1	0
chr18	31008419	31008419	A	C	exonic	DSC3	.	nonsynonymous SNV	DSC3:NM_001941:exon10:c.T1370G:p.L457W,DSC3:NM_024423:exon10:c.T1370G:p.L457W	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0153542169892	.	0.000199681	0.0002	0	8.672e-05	0.0014	0.0002	7.496e-05	0	6.057e-05	0.0001423	22	154602	rs202208419	8.688e-05	8.687e-05	7.487e-05	9.901e-05	0.0013	7.42e-05	6.969e-05	0.0010	0.0009	0	4.472e-05	0.0003	0.0013	9.361e-05	0	3.777e-05	0.0001	0.0001	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	9.234e-05	0.0013	0.0010	2.406e-05	0	6.538e-05	0.0009	0.0023	0.0002	0	5.88e-05	0	0.0002	0.032	0.44694	D	0.01	0.65728	D	0.972	0.63424	D	0.84	0.60170	P	0.805807	0.06797	N	1.156770	0.999297	0.21398	N	2.095	0.58118	M	1.07	0.39586	T	-1.43	0.35194	N	0.502	0.54409	-0.9861	0.33566	T	0.156	0.48807	T	10	0.053907156	0.05656	T	0.015354	0.36031	T	0.160	0.41473	.	.	0.492884620584	0.48921	0.5172298087922161	0.51645	0.294987124137	0.31910	0.354326337576	0.18557	T	0.158103	0.50098	T	-0.431799	0.01446	T	-0.41204	0.31991	T	0.0710428698494488	0.08796	T	0.444256	0.12390	T	0.097482964	0.22980	0.14653862	0.34713	0.08564299	0.19873	0.14375897	0.34152	-6.368	0.49868	T	.	.	0.128	0.27313	B	.;.	.;.	3.611580	0.51069	23.0	0.95420018989281319	0.26896	0.70761	0.34725	D	AEFBI	0.302144	0.41047	N	0.243057906609064	0.53296	3.499149	0.206881979729783	0.50231	3.217146	0.0268525002529698	0.13738	0.549168	0.22868	0	0.627178	0.54094	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.34	2.82	0.32061	0.998000	0.29345	0.529000	0.19232	0.756000	0.94297	0.140000	0.23505	0.000000	0.08366	0.991000	0.66497	0.6468:0.0:0.3532:0.0	6.971	0.23826	849	0.35778	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1688.33	33	chr18	31008419	.	A	C	1688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=771;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.055;SOR=0.754	GT:AD:DP:GQ:PL	0/1:79,64:143:99:1702,0,1850	18	0	1	0
chr18	31354317	31354317	T	A	exonic	DSG1	.	nonsynonymous SNV	DSG1:NM_001942:exon15:c.T2121A:p.D707E	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, Autosomal recessive;Keratosis palmoplantaris striata I, AD, Autosomal dominant	1	1515	5	1	0	7	0.00230491	.	.	.	715930	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.631	.	0.0008	0.0115815	0.0095	0.0008	0.0788	0.0213	0.0011	0.0003	0.0033	0.0012	0.0091525	1415	154602	rs139058372	0.0034	0.0034	0.0037	0.0031	0.0753	0.0033	0.0033	0.0732	0.0723	0.0006	0.0753	0	0.0232	0.0009	0.0007	0.0002	0.0045	0.0016	0.0069	0.0069	0.0060	0.0077	0.0551	0.0065	0.0064	0.0520	0.0508	0.0011	0	0.0551	0	0.0213	0.0008	0	0.0003	0.0062	0.0017	0.465	0.08609	T	0.477	0.39954	T	0.937	0.52445	P	0.794	0.57880	P	0.000001	0.62929	D	0.000000	0.97373	0.39048	D	1.235	0.30780	L	-1.43	0.80730	T	-1.71	0.40660	N	0.525	0.55453	-0.5166	0.68042	T	0.158	0.49178	T	10	0.0071102083	0.00162	T	.	.	.	0.631	0.85821	0.728	0.86198	.	.	0.609172698769941	0.60849	0.41194660241	0.41941	0.695853590965	0.66545	T	0.051505	0.28899	T	-0.228885	0.16797	T	-0.0423736	0.67542	D	0.0509829312414452	0.05672	T	0.618838	0.24205	T	0.20904513	0.43160	0.22426699	0.47334	0.1692738	0.37434	0.22426699	0.47333	-8.391	0.63706	D	0.17402584612734787	0.22079	0.393	0.59154	A	.;.	.;.	2.435564	0.31337	18.71	0.95146885324006125	0.26275	0.88612	0.48621	D	AEFBI	0.389010	0.46840	N	0.333328892564379	0.57866	3.955811	0.353611375921179	0.58726	4.044871	0.999978882987503	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.04	4.89	0.63387	1.362000	0.33752	-0.143000	0.11497	0.665000	0.62972	1.000000	0.71638	0.758000	0.26602	0.998000	0.85391	0.0:0.0663:0.0:0.9337	12.169	0.53452	527	0.73864	Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1204.33	35	chr18	31354317	.	T	A	1204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=688;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-1.092;SOR=0.885	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1218,0,819	18	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3348.45	99	chr18	31541297	.	G	A	3348.45	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.192;DP=1152;ExcessHet=25.4433;FS=375.107;InbreedingCoeff=-0.7874;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.09;SOR=12.356	GT:AD:DP:GQ:PL	0/1:25,24:49:99:138,0,439	2	0	16	1
chr18	31546136	31546136	C	T	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon15:c.C2750T:p.A917V	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	0	1521	1	0	0	1	0.000328623	.	.	YES	198002	Arrhythmogenic_right_ventricular_dysplasia_10|Dilated_cardiomyopathy_1BB|not_specified|Cardiomyopathy	MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193|MONDO:MONDO:0013030,MedGen:C2752072,OMIM:612877,Orphanet:154|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.094	0.0317005375861	.	.	0.0002	0	0	0	0	1.502e-05	0	0.0013	0.0001423	22	154602	rs775670183	8.414e-05	8.414e-05	4.22e-05	0.0001	0.0013	7.203e-05	6.75e-05	0.0011	0.0011	0	0	0	2.519e-05	0	0	6.295e-06	0	0.0013	5.255e-05	5.25e-05	3.857e-05	6.716e-05	0.0012	2.556e-05	1.83e-05	0.0005	0.0004	4.814e-05	0	0	0	0	0	0	0	0	0.0012	0.155	0.24183	T	0.212	0.26549	T	0.008	0.14655	B	0.001	0.04355	B	0.424145	0.12832	N	0.714184	1	0.08975	N	0.46	0.12951	N	-1.06	0.76819	T	-0.81	0.22294	N	0.026	0.00527	-0.9446	0.41879	T	0.220	0.58319	T	10	0.010324627	0.00230	T	0.031701	0.53716	D	0.094	0.27141	.	.	0.690292029307	0.68763	0.2487530672569336	0.24789	0.0708596356974	0.07944	0.238906860352	0.02693	T	0.135974	0.46809	T	-0.535791	0.00355	T	-0.592844	0.13421	T	0.0202981674675794	0.00730	T	0.465053	0.13602	T	0.016640255	0.00212	0.036278926	0.03042	0.016640255	0.00211	0.036278926	0.03042	-3.293	0.13647	T	0.0937069121629194	0.06193	0.080	0.07889	B	.	.	2.142992	0.27288	17.41	0.93338627726445933	0.23068	0.11519	0.16688	N	AEFBI	.	.	.	-0.945738660506951	0.09789	0.4648308	-0.894383993555009	0.12226	0.6276811	0.730943442897407	0.23044	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	4.9	2.13	0.26445	0.315000	0.19200	0.482000	0.18815	-0.182000	0.10109	0.135000	0.23427	0.000000	0.08366	0.931000	0.46843	0.1014:0.5019:0.2678:0.1289	4.750	0.12432	703	0.57489	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2850.33	34	chr18	31546136	.	C	T	2850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.624;DP=1063;ExcessHet=0;FS=1.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=1.02;SOR=0.566	GT:AD:DP:GQ:PL	0/1:95,111:206:99:2864,0,2434	18	0	1	0
chr18	31630980	31630980	T	C	exonic	B4GALT6	.	nonsynonymous SNV	B4GALT6:NM_001330570:exon5:c.A638G:p.K213R,B4GALT6:NM_001378110:exon5:c.A215G:p.K72R,B4GALT6:NM_001378109:exon6:c.A623G:p.K208R,B4GALT6:NM_004775:exon6:c.A755G:p.K252R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.020717344723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.59928	D	0.037	0.53426	D	0.992	0.64738	D	0.869	0.61749	P	0.000117	0.50451	D	0.135259	0.999992	0.58761	D	1.435	0.35949	L	1.38	0.34050	T	-1.04	0.28084	N	0.799	0.80083	-0.8464	0.52215	T	0.168	0.50681	T	10	0.7261414	0.73986	D	0.020717	0.43370	T	0.252	0.56159	0.621	0.75576	0.490693190711	0.48701	0.7602650048296395	0.75974	0.540215223848	0.51221	0.831728339195	0.86827	D	0.580492	0.86255	D	0.110458	0.65400	D	-0.079111	0.64970	T	0.868011295795441	0.51800	D	0.937406	0.79148	D	0.16476452	0.36705	0.13423325	0.32170	0.16476452	0.36705	0.13423325	0.32169	-4.722	0.34928	T	.	.	0.111	0.23005	B	.;.;.	.;.;.	4.980473	0.82498	27.8	0.99900504767809639	0.97275	0.97986	0.78653	D	AEFGBI	0.914725	0.87849	D	0.657241612038967	0.76838	6.56094	0.685431561639513	0.81273	7.488094	0.999999999999952	0.74766	0.732398	0.92422	0	0.696144	0.67643	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.5	5.5	0.81386	7.991000	0.87898	6.173000	0.54519	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.899	0.79140	713	0.56348	Galactosyltransferase, C-terminal;Galactosyltransferase, 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	.	.	.	.	.	.	.	.	0.02632	1165.33	35	chr18	31630980	.	T	C	1165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.482;DP=722;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.065;SOR=0.578	GT:AD:DP:GQ:PL	0/1:54,47:101:99:1179,0,1449	18	0	1	0
chr18	36126272	36126272	C	T	exonic	SLC39A6	.	nonsynonymous SNV	SLC39A6:NM_012319:exon2:c.G736A:p.E246K	.	434	1079	9	0	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0114966959043	0.0030	0.000798722	0.0018	0.0004	0.0009	0	0.0002	0.0027	0.0044	0.0012	0.002044	316	154602	rs117497867	0.0024	0.0024	0.0024	0.0023	0.0040	0.0023	0.0023	0.0027	0.0027	0.0005	0.0011	0.0017	0	0.0004	0.0040	0.0028	0.0022	0.0007	0.0020	0.0020	0.0021	0.0019	0.0034	0.0018	0.0017	0.0030	0.0029	0.0006	0.0044	0.0012	0.0017	0	0.0009	0	0.0034	0.0024	0.0010	0.026	0.46910	D	0.451	0.12920	T	0.488	0.36905	P	0.108	0.31289	B	0.003252	0.35212	N	0.189234	0.910305	0.81001	D	1.445	0.36358	L	1.98	0.21865	T	-0.59	0.17624	N	0.775	0.77413	-1.1055	0.03486	T	0.036	0.15596	T	10	0.021119297	0.00499	T	0.011497	0.29187	T	0.130	0.35528	.	.	0.357313475932	0.35345	0.5273601260192872	0.52660	0.123043681078	0.13866	0.501556277275	0.39045	T	0.025342	0.18971	T	-0.171174	0.25055	T	-0.0163217	0.69271	D	0.0136622601592934	0.00254	T	0.871513	0.57764	D	0.19819176	0.41713	0.105855905	0.25455	0.19819176	0.41712	0.105855905	0.25454	-3.97	0.23353	T	.	.	0.091	0.13268	B	.;.	.;.	3.736871	0.53487	23.4	0.99802658814713141	0.88728	0.91970	0.54658	D	AEFBCI	0.662399	0.63228	D	0.0490367337468013	0.44097	2.690125	0.229083568283562	0.51469	3.329037	0.999999997395298	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.92	5.92	0.95557	4.704000	0.61519	7.623000	0.62394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:1.0:0.0:0.0	15.821	0.78420	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	3082.83	45	chr18	36126272	.	C	T	3082.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.715;DP=847;ExcessHet=0.119;FS=7.173;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.399;SOR=1.116	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1676,0,1914	17	0	2	0
chr18	45910687	45910687	T	G	exonic	EPG5	.	nonsynonymous SNV	EPG5:NM_020964:exon23:c.A4039C:p.N1347H	Vici syndrome, Autosomal recessive	431	1085	6	0	0	6	0.00275735	.	.	.	226970	not_provided|Inborn_genetic_diseases|not_specified|EPG5-related_disorder|Vici_syndrome	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|.|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840,Orphanet:1493	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.023	0.00378599287711	0.0052	0.00219649	0.0045	0.0015	0.0011	0	0.0077	0.0064	0.0011	0.0022	0.0043984	680	154602	rs144860976	0.0054	0.0054	0.0054	0.0055	0.0062	0.0053	0.0053	0.0061	0.0060	0.0005	0.0011	0.0026	0	0.0067	0.0062	0.0062	0.0049	0.0028	0.0040	0.0040	0.0040	0.0039	0.0063	0.0037	0.0036	0.0058	0.0056	0.0012	0	0.0019	0.0012	0	0.0074	0	0.0063	0.0028	0.0021	0.094	0.31383	T	0.317	0.19304	T	0.001	0.07471	B	0.004	0.10090	B	0.046400	0.23444	N	0.354507	1	0.08975	N	1.7	0.43825	L	2.95	0.09635	T	-1.49	0.36385	N	0.185	0.20129	-1.0243	0.22311	T	0.015	0.05897	T	10	0.0058216155	0.00130	T	0.003786	0.08806	T	0.023	0.04649	.	.	0.171388866994	0.16791	0.16672857205692407	0.16592	0.322664122879	0.34451	0.292543947697	0.09293	T	0.012874	0.11238	T	-0.61669	0.00115	T	-0.654883	0.08616	T	0.00909126004577149	0.00114	T	0.648035	0.25918	T	0.12701029	0.29733	0.07799637	0.17428	0.121818244	0.28638	0.07549618	0.16626	-2.765	0.07865	T	0.14168148271615574	0.15961	0.094	0.14431	B	.;.	.;.	2.470374	0.31840	18.86	0.9737178219794107	0.33627	0.38595	0.26023	N	AEFDGBHCI	0.141893	0.26418	N	-0.251781616387913	0.31033	1.736095	-0.0750230974942349	0.36427	2.119707	0.999836030554766	0.43792	0.696267	0.57585	0	0.703908	0.78521	0	0.691665	0.62940	0	0.629945	0.49285	0	.	.	5.22	5.22	0.72285	2.300000	0.43280	4.196000	0.42436	0.665000	0.62972	0.642000	0.28102	0.915000	0.28207	0.991000	0.66497	0.0:0.0:0.1541:0.8459	11.156	0.47712	978	0.04198	.;.	.	.	.	.	.	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	0.003525	0.015152	0.004076	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1354.33	33	chr18	45910687	.	T	G	1354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.211;DP=764;ExcessHet=0;FS=3.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.555;SOR=0.996	GT:AD:DP:GQ:PL	0/1:53,54:107:99:1368,0,1293	18	0	1	0
chr18	46533320	46533320	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001308013:exon8:c.C596T:p.A199V,LOXHD1:NM_001145472:exon10:c.C884T:p.A295V,LOXHD1:NM_001384474:exon28:c.C4217T:p.A1406V,LOXHD1:NM_144612:exon28:c.C4217T:p.A1406V	Deafness, autosomal recessive 77, Autosomal recessive	0	1467	52	3	0	58	0.019385	.	.	.	176700	Autosomal_recessive_nonsyndromic_hearing_loss_77|not_specified|not_provided	MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.216	.	0.0015	0.00638978	0.0079	0	0.01	0.0015	0	0.0026	0.0081	0.0187	0.0016817	260	154602	rs146739496	0.0025	0.0024	0.0021	0.0030	0.0158	0.0025	0.0024	0.0151	0.0148	0.0006	0.0021	0.0008	2.798e-05	0.0001	0.0135	0.0018	0.0034	0.0158	0.0020	0.0020	0.0019	0.0020	0.0164	0.0018	0.0017	0.0135	0.0124	0.0003	0.0011	0.0025	0.0009	0.0004	9.413e-05	0.0136	0.0023	0.0028	0.0164	0.029	0.45756	D	0.034	0.83351	D	0.905	0.49920	P	0.475	0.46927	P	0.021595	0.26803	N	0.419031	0.98616	0.40390	D	.	.	.	-0.1	0.64264	T	-1.98	0.45769	N	0.053	0.12770	-0.7687	0.56929	T	0.128	0.43503	T	10	0.0068620443	0.00156	T	.	.	.	0.216	0.50959	.	.	0.208000267992	0.20380	0.46809233412506684	0.46728	.	.	0.294937849045	0.09649	T	0.020119	0.80719	T	-0.525645	0.00407	T	-0.514204	0.20885	T	0.0791777662224257	0.09881	T	0.891911	0.66064	D	0.110194	0.26050	0.24893135	0.50454	0.1610283	0.36083	0.20420283	0.44533	-7.861	0.60119	D	.	.	0.162	0.38569	B	.;.;.;.;.;.	.;.;.;.;.;.	4.329512	0.66332	24.9	0.98795692942184155	0.46365	0.98819	0.87269	D	AEFBI	0.920127	0.89165	D	0.224203404375447	0.52375	3.41199	0.406273072246657	0.61956	4.403134	0.99999999711226	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	9.567000	0.97303	11.766000	0.95743	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.664000	0.33081	0.0:0.0:1.0:0.0	19.339	0.94320	946	0.12043	PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011933	0.005208	0.016393	0.008929	0.000000	0.058824	0.005747	0.011628	0.05263	2417.83	34	chr18	46533320	.	G	A	2417.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.108;DP=765;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.876;SOR=0.672	GT:AD:DP:GQ:PL	0/1:45,50:95:99:1303,0,1177	17	0	2	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	132.65	173	chr18	48252446	.	C	G	132.65	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.893;DP=3141;ExcessHet=0.119;FS=193.121;InbreedingCoeff=-0.208;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=2.4;SOR=9.912	GT:AD:DP:GQ:PL	0/1:142,44:194:99:130,0,3524	8	0	2	9
chr18	50729651	50729651	T	G	exonic	MAPK4	.	nonsynonymous SNV	MAPK4:NM_001292039:exon5:c.T928G:p.S310A,MAPK4:NM_002747:exon6:c.T1561G:p.S521A	.	.	.	.	.	.	.	.	.	.	.	3456781	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.16170944637	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs750446711	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	3.451e-05	0	0	0	0.0015	0	0.0003	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	2.411e-05	0	0	0	0	0.0015	0	0.0003	0	0	0.04	0.48642	D	0.653	0.06666	T	0.634	0.40281	P	0.168	0.35187	B	0.001599	0.38554	U	0.000000	0.999999	0.23238	N	1.04	0.26193	L	-0.6	0.71662	T	-0.49	0.15578	N	0.094	0.11912	-0.8018	0.55038	T	0.200	0.55541	T	10	0.07171589	0.10610	T	0.161709	0.84144	D	0.087	0.25287	0.112	0.02175	0.707005766138	0.70445	0.2675576626952013	0.26668	0.490376730832	0.47763	0.648070931435	0.59712	T	0.019931	0.15785	T	-0.293775	0.09260	T	-0.395336	0.33928	T	0.0502787176494405	0.05550	T	0.344066	0.07525	T	0.15596014	0.35220	0.08809354	0.20519	0.15596014	0.35220	0.08809354	0.20518	-3.593	0.17756	T	.	.	0.058	0.01786	B	.;.	.;.	1.298820	0.17006	12.90	0.81203782330792107	0.13570	0.69616	0.34258	D	AEFDBI	0.084423	0.17110	N	-0.29506171101062	0.29337	1.626081	-0.28855459334963	0.28474	1.587943	0.0947386588632168	0.16212	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	4.97	4.97	0.65419	0.545000	0.22976	0.855000	0.22175	0.576000	0.29215	0.439000	0.26479	0.996000	0.32793	0.068000	0.16518	0.0:0.0:0.0:1.0	13.645	0.61745	734	0.53889	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1124.33	33	chr18	50729651	.	T	G	1124.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.206;DP=763;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.909;SOR=0.75	GT:AD:DP:GQ:PL	0/1:66,50:116:99:1138,0,1653	18	0	1	0
chr18	57027097	57027097	G	A	exonic	WDR7	.	nonsynonymous SNV	WDR7:NM_001382485:exon27:c.G4264A:p.A1422T,WDR7:NM_052834:exon27:c.G4264A:p.A1422T,WDR7:NM_001382487:exon28:c.G4363A:p.A1455T,WDR7:NM_015285:exon28:c.G4363A:p.A1455T	.	419	1099	4	0	0	4	0.00181653	.	.	.	3933357	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.0211069388324	.	.	0.0001	0	0.0008	0	0	3.017e-05	0	0.0002	9.7e-05	15	154602	rs573261188	3.01e-05	3.078e-05	2.723e-05	3.3e-05	0.0002	2.282e-05	2.032e-05	0.0001	0.0001	2.987e-05	0.0002	0	2.519e-05	0	0	1.709e-05	9.934e-05	6.956e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.543e-05	2.18e-06	8.2e-07	.	.	0	0	6.543e-05	0	0	0	0	1.47e-05	0	0	0.682	0.04786	T	0.0	0.92824	D	0.994	0.66517	D	0.777	0.57175	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.55	0.14455	N	0.01	0.62459	T	0.27	0.04306	N	0.652	0.66272	-0.7269	0.59119	T	0.252	0.62223	T	10	0.23226893	0.40219	T	0.021107	0.43827	T	0.206	0.49396	0.323	0.30387	0.0934897674506	0.08844	0.22929817602923955	0.22844	1.1111194691	0.78061	0.739319086075	0.72872	T	0.00687	0.22682	T	-0.206589	0.19863	T	-0.224009	0.52351	T	0.297848165035248	0.24915	T	0.952005	0.81930	D	0.11656136	0.27491	0.14508858	0.34423	0.11656136	0.27491	0.14508858	0.34422	-3.642	0.19244	T	.	.	0.086	0.28086	B	.;.;.;.	.;.;.;.	4.839638	0.78995	27.0	0.84055882691643247	0.15071	0.97932	0.78226	D	AEFBI	0.700111	0.65724	D	0.371464457945476	0.59880	4.171396	0.39182775131957	0.61060	4.301023	0.999999413571696	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.69	5.69	0.88346	8.067000	0.89279	11.728000	0.94942	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.506000	0.29152	0.0:0.0:1.0:0.0	19.413	0.94676	772	0.48957	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1363.33	45	chr18	57027097	.	G	A	1363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.648;DP=744;ExcessHet=0;FS=5.911;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.51;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,57:112:99:1|0:57027096_C_T:1377,0,2120:57027096	18	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	3265.29	67	chr18	65824683	.	C	G	3265.29	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.376;DP=1741;ExcessHet=38.2876;FS=194.625;InbreedingCoeff=-0.8995;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=1.26;SOR=12.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,28:66:99:0|1:65824683_C_G:353,0,714:65824683	1	0	18	0
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V,ATP9B:NM_198531:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0104317513341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0	0.0001	2.767e-05	4.173e-05	0.0005	0.0005	0.0003	0.0001	0	6.588e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000007	0.62929	N	0.106321	0.999956	0.52396	D	.	.	.	-0.34	0.68474	T	0.49	0.02993	N	0.356	0.39760	-1.0003	0.29831	T	0.106	0.38685	T	10	0.17882419	0.32987	T	0.010432	0.26958	T	0.125	0.34456	0.516	0.61611	0.557831953242	0.55443	0.32797818657124184	0.32710	0.19016546305	0.21331	0.641342043877	0.58755	T	0.051017	0.28760	T	-0.0924065	0.37678	T	-0.370512	0.36829	T	0.962732970714569	0.66454	D	0.929107	0.73907	D	0.025876695	0.01576	0.035724007	0.02878	0.025876695	0.01576	0.035724007	0.02878	-4.704	0.33453	T	.	.	0.076	0.05756	B	.;.	.;.	1.506156	0.19358	14.22	0.4022302230854744	0.02825	0.97863	0.77695	D	AEFBI	0.690181	0.65060	D	-0.529217151314464	0.21140	1.119708	-0.32364514690563	0.27337	1.516199	0.922846515319302	0.26722	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.71	0.41733	5.906000	0.69639	0.174000	0.15553	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.726000	0.34967	0.9163:0.0:0.0837:0.0	10.024	0.41234	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1259.6	82	chr18	79373903	.	A	G	1259.6	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-0.81;DP=861;ExcessHet=1.3;FS=155.795;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=5.43;ReadPosRankSum=1.49;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,9:35:99:0|1:79373902_C_G:186,0,981:79373902	10	0	5	4
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.375	2268.28	81	chr18	79373905	.	C	G	2268.28	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.62;DP=784;ExcessHet=7.4688;FS=157.665;InbreedingCoeff=-0.3998;MLEAC=12;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=1.57;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,9:35:99:0|1:79373902_C_G:186,0,981:79373902	3	0	9	7
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V,ATP9B:NM_198531:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	2143.27	69	chr18	79373906	.	C	G	2143.27	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-0.593;DP=800;ExcessHet=7.4688;FS=314.938;InbreedingCoeff=-0.3139;MLEAC=7;MLEAF=0.25;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=1.57;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,9:35:99:0|1:79373902_C_G:186,0,981:79373902	8	0	6	5
chr18	80045896	80045896	G	T	exonic	RBFA	.	nonsynonymous SNV	RBFA:NM_001171967:exon6:c.G688T:p.G230C,RBFA:NM_024805:exon7:c.G773T:p.G258V	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0103879545022	0.0031	0.00139776	0.0022	0.0004	0.0017	0	0.0006	0.0034	0.0011	0.0004	0.0022186	343	154602	rs146546640	0.0025	0.0025	0.0026	0.0025	0.0077	0.0025	0.0024	0.0059	0.0052	0.0007	0.0025	0.0038	2.521e-05	0.0004	0.0077	0.0029	0.0033	0.0002	0.0023	0.0023	0.0025	0.0021	0.0040	0.0021	0.0020	0.0033	0.0031	0.0005	0	0.0040	0.0014	0	0.0008	0.0102	0.0037	0.0014	0.0002	0.003	0.68238	D	0.044	0.49663	D	0.959	0.55135	D	0.556	0.49411	P	0.091953	0.20299	N	0.477385	0.999999	0.08975	N	.	.	.	1.78	0.25678	T	-2.61	0.56144	D	0.315	0.35514	-1.0895	0.05616	T	0.039	0.16978	T	9	0.004610032	0.00096	T	0.010388	0.26871	T	0.118	0.32913	.	.	0.382761230579	0.37889	0.11111175681961595	0.11040	0.803011801004	0.66336	0.267464339733	0.05813	T	0.021326	0.16629	T	-0.435043	0.01383	T	-0.399159	0.33482	T	0.023375148767641	0.01068	T	0.521748	0.17009	T	0.18848088	0.40349	0.1354497	0.32429	0.18848088	0.40349	0.1354497	0.32428	-4.055	0.24624	T	.	.	0.117	0.23709	B	.	.	1.732306	0.22045	15.46	0.98658077252863763	0.44289	0.18637	0.20342	N	AEFDBCI	0.095111	0.19220	N	-0.151032493658111	0.35190	2.018202	-0.280986694605362	0.28725	1.603809	0.848811751896699	0.25005	0.67177	0.52595	0	0.702456	0.74545	0	0.554053	0.18673	1	0.635551	0.53088	0	.	.	4.78	3.89	0.44098	0.894000	0.27983	3.059000	0.36152	0.676000	0.76740	0.050000	0.21411	0.999000	0.35428	0.006000	0.07323	0.1755:0.0:0.8245:0.0	8.042	0.29686	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.010101	0.005435	0.005848	0.000000	0.008621	0.006098	0.000000	0.02632	2225.33	36	chr18	80045896	.	G	T	2225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.248;DP=1266;ExcessHet=0;FS=2.79;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=2.34;SOR=0.753	GT:AD:DP:GQ:PL	0/1:74,86:160:99:2239,0,1934	18	0	1	0
chr19	1108443	1108443	G	T	exonic	SBNO2	.	nonsynonymous SNV	SBNO2:NM_001100122:exon29:c.C3707A:p.T1236N,SBNO2:NM_014963:exon32:c.C3878A:p.T1293N	.	.	.	.	.	.	.	.	.	.	.	2260920	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0440579499335	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1379906639	2.101e-05	2.668e-05	1.94e-05	2.275e-05	0.0007	1.399e-05	1.169e-05	0.0001	5.278e-05	0	0	0	0	0	0.0007	1.518e-05	7.141e-05	9.74e-05	1.336e-05	1.316e-05	1.304e-05	1.369e-05	2.982e-05	2.22e-06	8.3e-07	4.95e-06	1.85e-06	0	0	0	0	0	0	0	2.982e-05	0	0	0.107	0.29554	T	0.041	0.51737	D	0.037	0.27697	B	0.011	0.20508	B	0.225340	0.03483	N	1.664540	1	0.08975	N	1.59	0.40313	L	.	.	.	-0.08	0.08187	N	0.072	0.04547	-1.0140	0.25656	T	0.071	0.28904	T	9	0.054237396	0.05742	T	0.044058	0.61297	D	0.021	0.04004	0.265	0.21103	0.207176502487	0.20327	0.17656208217820749	0.17575	0.487052867703	0.47545	0.719800710678	0.70017	T	0.014795	0.12528	T	-0.297359	0.08911	T	-0.664912	0.07939	T	0.0692295604543093	0.08543	T	.	.	.	0.042023808	0.06298	0.042847354	0.05196	0.042023808	0.06298	0.042847354	0.05196	-4.531	0.31292	T	.	.	0.084	0.17317	B	.;.;.	.;.;.	0.637944	0.10061	6.813	0.75194142914670681	0.10981	0.16776	0.19544	N	AEFBHCI	0.075605	0.15188	N	-1.20001837857646	0.05001	0.2269605	-1.25558772732373	0.05049	0.2396546	0.999990659648494	0.74766	0.634777	0.41761	0	0.71359	0.82159	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	3.4	-0.11	0.12919	2.229000	0.42634	4.757000	0.44693	-0.219000	0.08017	0.040000	0.20979	0.937000	0.28687	0.002000	0.04165	0.3156:0.0:0.6844:0.0	6.789	0.22874	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	292.34	19	chr19	1108443	.	G	T	292.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.659;DP=380;ExcessHet=0;FS=1.283;InbreedingCoeff=-0.0276;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=-0.881;SOR=1.008	GT:AD:DP:GQ:PL	0/1:23,15:38:99:306,0,503	18	0	1	0
chr19	2939269	2939291	CACCACCCTTACCCAAGGAGGCA	0	exonic	ZNF77	.	.	.	.	542	911	21	2	46	71	0.0135355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3093.58	35	chr19	2939269	.	CACCACCCTTACCCAAGGAGGCA	*	3093.58	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.716;DP=2580;ExcessHet=0.7564;FS=1.172;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=57.96;MQRankSum=1.95;QD=3.56;ReadPosRankSum=0.409;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:155,91:246:99:.:.:2249,0,4974:.	16	0	3	0
chr19	3000657	3000657	C	T	exonic	TLE2	.	nonsynonymous SNV	TLE2:NM_001144762:exon17:c.G1748A:p.S583N,TLE2:NM_001300846:exon19:c.G2117A:p.S706N,TLE2:NM_003260:exon19:c.G2114A:p.S705N	.	427	1072	20	3	0	26	0.0119816	.	.	.	1671777	not_provided|Decreased_total_neutrophil_count|Decreased_total_lymphocyte_count	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	.	.	.	.	.	.	.	.	0.199	.	0.0068	0.00938498	0.0117	0.0261	0.0232	0	0.0283	0.0130	0.0282	0.0018	0.004987	771	154602	rs143713547	0.0045	0.0046	0.0045	0.0045	0.0346	0.0044	0.0044	0.0306	0.0291	0.0140	0.0072	0.0071	0	0.0093	0.0346	0.0039	0.0077	0.0022	0.0084	0.0084	0.0084	0.0083	0.0149	0.0080	0.0078	0.0139	0.0135	0.0149	0	0.0098	0.0075	0	0.0107	0.0411	0.0045	0.0147	0.0027	0.025	0.47320	D	0.046	0.49663	D	0.971	0.57185	D	0.934	0.66904	D	0.000001	0.84330	D	0.092112	0.992512	0.81001	D	1.665	0.42610	L	2.79	0.11189	T	-2.57	0.55501	D	0.748	0.77507	-1.1741	0.00464	T	0.030	0.12760	T	10	0.009703219	0.00218	T	.	.	.	0.199	0.48268	.	.	0.734121464286	0.73174	0.6046838372921431	0.60399	0.915692668463	0.71232	0.846584916115	0.89098	D	0.431093	0.77934	T	-0.545414	0.00311	T	-0.54455	0.17852	T	0.0227404209511492	0.00993	T	0.945705	0.79334	D	0.5837768	0.71814	0.39995903	0.64545	0.5837768	0.71815	0.39995903	0.64545	-12.306	0.86310	D	.	.	0.572	0.67702	P	.;.;.;.	.;.;.;.	4.149057	0.62223	24.4	0.99497359993279333	0.67801	0.98307	0.81472	D	AEFBI	0.886248	0.81748	D	0.55790229130904	0.70566	5.520137	0.518921067155833	0.69263	5.335682	0.99920780657887	0.38742	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.96	3.96	0.45097	7.837000	0.85014	3.828000	0.39982	0.486000	0.22242	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.0:1.0:0.0:0.0	13.972	0.63758	982	0.03397	WD40-repeat-containing domain;.;.;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.042886	0.076531	0.057065	0.029240	0.000000	0.025862	0.012270	0.018939	0.02632	1096.33	34	chr19	3000657	.	C	T	1096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.983;DP=720;ExcessHet=0;FS=4.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=1.99;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,30:73:99:0|1:3000657_C_T:1110,0,1675:3000657	18	0	1	0
chr19	5587737	5587737	C	T	exonic	SAFB2	.	nonsynonymous SNV	SAFB2:NM_014649:exon20:c.G2669A:p.G890E	.	421	1070	29	2	0	33	0.0151864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	.	0.00579073	0.0123	0	0.005	0	0	0.0028	0.0156	0.0279	0.002335	361	154602	rs200613061	0.0022	0.0022	0.0014	0.0029	0.0264	0.0021	0.0021	0.0255	0.0251	0.0002	0.0014	0.0041	2.792e-05	0.0003	0.0090	0.0005	0.0027	0.0264	0.0014	0.0014	0.0011	0.0017	0.0250	0.0012	0.0012	0.0214	0.0201	0.0001	0	0.0014	0.0052	0	0.0002	0.0034	0.0005	0.0033	0.0250	0.003	0.68238	D	0.085	0.41074	T	0.965	0.56013	D	0.559	0.49531	P	0.019005	0.27353	N	0.259107	0.999976	0.18612	N	1.78	0.46185	L	3.02	0.08986	T	-3.47	0.67824	D	0.675	0.68255	-1.0867	0.06102	T	0.024	0.10194	T	10	0.007586062	0.00172	T	.	.	.	0.112	0.31546	.	.	0.187035705434	0.18338	0.15805788808572238	0.15726	0.265702687917	0.29123	0.610117137432	0.54332	T	0.134187	0.46529	T	-0.457542	0.01018	T	-0.409054	0.32335	T	0.0399240815428122	0.03676	T	0.935906	0.76011	D	0.25445426	0.48473	0.2747119	0.53402	0.25445426	0.48473	0.2747119	0.53401	-7.53	0.57822	D	.	.	0.298	0.52841	B	.	.	3.877911	0.56346	23.7	0.99100971918731073	0.52471	0.73588	0.35995	D	AEFDBHCI	0.159565	0.28538	N	0.0667775313195468	0.44917	2.757205	-0.0566194688661995	0.37205	2.175265	0.925377295047793	0.26813	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.0	4.0	0.45673	3.018000	0.49310	3.980000	0.40897	0.599000	0.40250	0.989000	0.36753	0.997000	0.33255	0.059000	0.15899	0.1948:0.8051:0.0:0.0	10.376	0.43265	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011579	0.000000	0.000000	0.015060	0.000000	0.000000	0.012658	0.044000	0.02632	986.33	35	chr19	5587737	.	C	T	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.577;DP=741;ExcessHet=0;FS=1.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.963;SOR=0.939	GT:AD:DP:GQ:PL	0/1:48,42:90:99:1000,0,1195	18	0	1	0
chr19	7506015	7506015	C	A	exonic	TEX45	.	nonsynonymous SNV	TEX45:NM_198534:exon7:c.C1057A:p.Q353K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00410222373573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.902	0.02412	T	0.901	0.03039	T	0.02	0.18235	B	0.013	0.16460	B	0.923115	0.07488	N	1.041340	1	0.08975	N	.	.	.	2.56	0.13673	T	-0.8	0.22078	N	0.106	0.09066	-0.9389	0.42790	T	0.022	0.09559	T	10	0.028607756	0.00992	T	0.004102	0.09806	T	0.021	0.04004	0.2	0.11384	0.0297737177859	0.01360	0.20997207151584635	0.20913	0.274500258451	0.29939	.	.	.	0.002819	0.02217	T	-0.365332	0.03837	T	-0.762551	0.03022	T	0.879615306854248	0.52959	D	0.425957	0.11436	T	0.07243003	0.16112	0.044225875	0.05683	0.07243003	0.16112	0.044225875	0.05683	-3.696	0.19259	T	.	.	0.104	0.18705	B	.	.	0.796700	0.11672	8.255	0.65690338387590197	0.07844	0.00851	0.03397	N	ALL	0.045150	0.07351	N	-1.11273318694339	0.06415	0.2952521	-1.16356029768185	0.06527	0.3144966	0.999999997456195	0.74766	0.685219	0.55550	0	0.59043	0.45803	0	0.674405	0.61402	0	0.526803	0.08958	0	.	.	3.71	-0.0726	0.13072	0.328000	0.19425	0.709000	0.20918	0.549000	0.26987	0.001000	0.13787	0.636000	0.25890	0.192000	0.21661	0.3129:0.5295:0.1576:0.0	6.298	0.20305	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1672.33	76	chr19	7506015	.	C	A	1672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.057;DP=1078;ExcessHet=0;FS=1.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=0.68;SOR=0.573	GT:AD:DP:GQ:PL	0/1:102,75:177:99:1686,0,2564	18	0	1	0
chr19	7624312	7624312	C	T	exonic	XAB2	.	nonsynonymous SNV	XAB2:NM_020196:exon7:c.G956A:p.R319H	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0117858067014	.	.	3.31e-05	0	0	0	0	3.016e-05	0	0.0001	2.59e-05	4	154602	rs772031695	1.916e-05	2.052e-05	1.226e-05	2.613e-05	0.0003	1.329e-05	1.144e-05	6.094e-05	3.272e-05	0	0	0	0	0	0.0003	1.439e-05	3.312e-05	9.275e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	6.542e-05	5.24e-06	2.45e-06	.	.	0	0	6.542e-05	0	0	9.406e-05	0	1.47e-05	0	0	0.123	0.27544	T	0.118	0.36233	T	0.015	0.17086	B	0.007	0.12992	B	0.010042	0.30087	N	0.319681	0.691766	0.30184	N	1.1	0.28011	L	1.2	0.37405	T	-0.48	0.15379	N	0.269	0.30461	-0.9800	0.35002	T	0.082	0.32382	T	10	0.081361115	0.13310	T	0.011786	0.29763	T	0.046	0.12618	0.326	0.30873	0.102598925029	0.09809	0.13599216020516416	0.13523	0.858288732314	0.68850	0.451991021633	0.32216	T	0.100529	0.40642	T	-0.331945	0.05965	T	-0.511938	0.21116	T	0.178734725644293	0.19155	T	0.960104	0.84924	D	0.07137568	0.15798	0.041130316	0.04604	0.07137568	0.15798	0.041130316	0.04604	-3.563	0.17324	T	.	.	0.085	0.10111	B	.	.	3.474152	0.48478	22.6	0.99689917267605965	0.79842	0.69685	0.34286	D	AEFBCI	0.286457	0.39884	N	-0.156638507299328	0.34953	2.001615	-0.0270795281417147	0.38496	2.268864	0.999847371796628	0.43971	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.94	3.94	0.44807	1.940000	0.39851	4.774000	0.44793	0.549000	0.26987	0.007000	0.17678	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	14.909	0.70381	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.000000	0.02632	1398.33	35	chr19	7624312	.	C	T	1398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.159;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.369;SOR=0.682	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1412,0,1323	18	0	1	0
chr19	8882357	8882357	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.A41726C:p.H13909P	.	405	1047	70	0	0	70	0.0323475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00792783571824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796735167	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.375e-05	0.0031	2.685e-05	0	5.047e-05	2.28e-06	8.6e-07	8.36e-06	3.13e-06	5.047e-05	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.42	0.33189	T	-2.13	0.48354	N	0.169	0.17966	-0.9248	0.44886	T	0.118	0.41538	T	8	0.10297388	0.18905	T	0.007928	0.21033	T	0.032	0.07718	.	.	0.12205267543	0.11705	0.27533970181248574	0.27446	.	.	0.296447068453	0.09873	T	.	.	.	-0.231789	0.16411	T	-0.570725	0.15383	T	0.117542110383511	0.14187	T	0.136186	0.01076	T	.	.	.	.	.	.	.	.	-5.776	0.44365	T	.	.	0.094	0.14523	B	.	.	1.063717	0.14459	11.03	0.92759947552597488	0.22269	0.03584	0.08802	N	AEFBI	0.044049	0.07038	N	-0.65132752016793	0.17421	0.8963414	-0.848972519843682	0.13313	0.6899027	8.8082630228839E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	0.168	0.14298	-0.323000	0.08039	.	.	0.481000	0.22134	0.000000	0.06391	0.000000	0.08366	0.263000	0.23594	0.0:0.1579:0.2494:0.5927	3.103	0.05949	958	0.09170	SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	496.18	232	chr19	8882357	.	T	G	496.18	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.964;DP=3108;ExcessHet=0.119;FS=3.351;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.25;MQ=58.84;MQRankSum=-8.775;QD=1.52;ReadPosRankSum=0.557;SOR=1.06	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,13:128:99:0|1:8882357_T_G:200,0,4785:8882357	6	0	2	11
chr19	8882360	8882360	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.C41723A:p.T13908N	.	407	1050	65	0	0	65	0.0300231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00551552653495	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175263485	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.846e-06	0.0029	1.337e-05	0	2.514e-05	0	0	.	.	2.514e-05	0	0	0	0	0	0	0	0	0	0.167	0.23095	T	0.11	0.37310	T	.	.	.	.	.	.	.	.	.	.	0.99995	0.19072	N	.	.	.	1.43	0.32958	T	-1.48	0.36189	N	0.215	0.24010	-0.9114	0.46682	T	0.117	0.41165	T	8	0.12792793	0.24332	T	0.005516	0.14197	T	0.036	0.09122	.	.	0.17948927462	0.17512	0.1012481156749268	0.10055	.	.	0.334889471531	0.15672	T	.	.	.	-0.280333	0.10633	T	-0.640456	0.09636	T	0.303562044834163	0.25150	T	0.377862	0.09067	T	.	.	.	.	.	.	.	.	-8.949	0.67368	D	.	.	0.129	0.27553	B	.	.	1.151135	0.15394	11.82	0.98214552204547234	0.39246	0.04046	0.09490	N	AEFBI	0.032139	0.03572	N	-0.171701422619438	0.34317	1.957244	-0.381415807223033	0.25551	1.405855	1.60312416966797E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	1.57	0.22490	0.080000	0.14657	.	.	0.488000	0.22294	0.002000	0.15269	0.022000	0.20871	0.320000	0.24970	0.1933:0.0:0.8067:0.0	4.506	0.11297	958	0.09170	SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	487.18	237	chr19	8882360	.	G	T	487.18	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-1.557;DP=3111;ExcessHet=0.119;FS=3.348;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.25;MQ=58.85;MQRankSum=-8.848;QD=1.48;ReadPosRankSum=1.04;SOR=1.052	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,13:130:99:0|1:8882357_T_G:194,0,4869:8882357	6	0	2	11
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	423.41	466	chr19	8888826	.	T	*	423.41	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.69;DP=7860;ExcessHet=48.2876;FS=8.285;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.63;MQRankSum=-9.46;QD=0.05;ReadPosRankSum=0.739;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:339,75:469:99:0|1:8888826_T_*:2136,0,14005:8888826	2	0	17	0
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A	.	419	1095	8	0	0	8	0.00363967	0	0.03	.	3210996	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05263	214.82	36	chr19	8899972	.	T	C	214.82	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.331;DP=1242;ExcessHet=0.119;FS=2.292;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.026;MQ=59.11;MQRankSum=-14.82;QD=0.45;ReadPosRankSum=1.92;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,15:221:10:0|1:8899972_T_C:10,0,8575:8899972	17	0	2	0
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	.	3214956	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05263	282.83	36	chr19	8899974	.	G	A	282.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.188;DP=1463;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.11;MQRankSum=-14.44;QD=0.59;ReadPosRankSum=2.26;SOR=0.921	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,16:225:43:0|1:8899972_T_C:43,0,8698:8899972	17	0	2	0
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R	.	420	1090	12	0	0	12	0.00547445	.	.	.	3192352	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05263	249.83	36	chr19	8899979	.	G	T	249.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.88;DP=1577;ExcessHet=0.119;FS=1.019;InbreedingCoeff=-0.0554;MLEAC=2;MLEAF=0.053;MQ=59.15;MQRankSum=-14.44;QD=0.5;ReadPosRankSum=2.11;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,17:240:22:0|1:8899972_T_C:22,0,9313:8899972	17	0	2	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E	.	417	1065	39	1	0	41	0.0188853	.	.	.	3221801	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08824	625.48	36	chr19	8900001	.	C	T	625.48	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.6;DP=3191;ExcessHet=0.3672;FS=0.971;InbreedingCoeff=-0.1251;MLEAC=3;MLEAF=0.088;MQ=59.19;MQRankSum=-14.72;QD=0.84;ReadPosRankSum=1.2;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,23:254:99:0|1:8900000_C_T:270,0,9588:8900000	14	0	3	2
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	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.3684	3536.2	316	chr19	8900017	.	C	G	3536.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.263;DP=4309;ExcessHet=17.0548;FS=3.59;InbreedingCoeff=-0.555;MLEAC=14;MLEAF=0.368;MQ=58.99;MQRankSum=-14.78;QD=0.96;ReadPosRankSum=1.67;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:224,22:246:99:0|1:8900000_C_T:250,0,9326:8900000	5	0	14	0
chr19	8908599	8908599	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37612G:p.T12538A	.	429	1090	3	0	0	3	0.00137426	0	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00112796486292	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	rs1292275692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.331e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.257	0.16738	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.69	0.27032	T	-0.45	0.14782	N	0.116	0.10483	-0.9581	0.39534	T	0.019	0.07753	T	7	0.071532875	0.10556	T	0.001128	0.01385	T	0.016	0.02506	0.249	0.18602	0.0297737177859	0.01360	0.08480375160435995	0.08414	.	.	0.244860142469	0.03246	T	.	.	.	-0.374715	0.03362	T	-0.776029	0.02575	T	0.0510332249104977	0.05680	T	0.138886	0.01109	T	.	.	.	.	.	.	.	.	-5.524	0.42092	T	.	.	0.069	0.02993	B	.	.	0.253012	0.06321	2.781	0.42206208933571693	0.03095	0.00009	0.00143	N	AEFBI	0.011238	0.00095	N	-1.58080858776645	0.01363	0.05940262	-1.61877208500018	0.01545	0.07001183	9.87328335879298E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.03	0.09586	0.325000	0.19374	.	.	-0.528000	0.04966	0.025000	0.20085	0.000000	0.08366	0.002000	0.04165	0.0:0.7516:0.0:0.2484	4.299	0.10357	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	.	.	.	.	.	.	.	.	0.07692	268.84	198	chr19	8908599	.	T	C	268.84	.	AC=2;AF=0.077;AN=26;BaseQRankSum=4.28;DP=2929;ExcessHet=0.119;FS=79.1;InbreedingCoeff=-0.1644;MLEAC=3;MLEAF=0.115;MQ=59.33;MQRankSum=-8.269;QD=0.7;ReadPosRankSum=0.602;SOR=6.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,16:167:99:0|1:8908590_A_G:217,0,6292:8908590	11	0	2	6
chr19	8908602	8908602	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37609A:p.A12537T	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00131490758785	.	.	4.182e-05	0.0001	0	0.0001	0	1.508e-05	0	0.0001	0.0001552	24	154602	rs138748436	4.107e-05	4.104e-05	3.95e-05	4.266e-05	0.0004	3.247e-05	2.921e-05	0.0003	0.0002	0.0004	0	0	0.0001	0	0.0002	3.24e-05	3.316e-05	2.32e-05	0.0001	0.0001	0.0002	5.568e-05	0.0003	7.282e-05	6.004e-05	0.0002	0.0002	0.0003	0	6.974e-05	0	0	0	0	4.448e-05	0	0	0.545	0.06691	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.39	0.33842	T	0.37	0.03639	N	0.078	0.05287	-1.0434	0.16294	T	0.040	0.17404	T	8	0.03682396	0.02000	T	0.001315	0.01834	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.061949370351122544	0.06134	.	.	0.279441058636	0.07415	T	.	.	.	-0.624425	0.00103	T	-0.804718	0.01787	T	0.00817964850258335	0.00098	T	0.242476	0.03503	T	.	.	.	.	.	.	.	.	1.346	0.00095	T	.	.	0.065	0.01834	B	.	.	0.570840	0.09394	6.173	0.33756429216317418	0.02028	0.00011	0.00159	N	AEFBI	0.008518	0.00040	N	-1.36706097997437	0.02952	0.131134	-1.41654224597646	0.03086	0.1432886	1.09906045987142E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	0.018000	0.13315	.	.	-0.524000	0.04973	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.238:0.0:0.762	3.410	0.06930	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	263.59	201	chr19	8908602	.	C	T	263.59	.	AC=2;AF=0.083;AN=24;BaseQRankSum=4.14;DP=2938;ExcessHet=0.119;FS=37.273;InbreedingCoeff=-0.1744;MLEAC=3;MLEAF=0.125;MQ=59.4;MQRankSum=-9.666;QD=0.68;ReadPosRankSum=1.04;SOR=7.369	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,16:167:99:0|1:8908590_A_G:217,0,6292:8908590	10	0	2	7
chr19	8908604	8908604	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.C37607A:p.P12536H	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00113280189862	.	.	.	.	.	.	.	.	.	.	.	.	.	rs893065310	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.64e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.009	0.57480	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	-1.42	0.34992	N	0.247	0.27910	-1.0628	0.11069	T	0.019	0.07846	T	8	0.14153516	0.26892	T	0.001133	0.01385	T	0.052	0.14661	0.277	0.23004	0.132336055621	0.12781	0.14758051324810698	0.14680	.	.	0.238620921969	0.02667	T	.	.	.	-0.253738	0.13642	T	-0.602254	0.12622	T	0.173418819904327	0.18810	T	0.154585	0.01346	T	.	.	.	.	.	.	.	.	-9.732	0.72291	D	.	.	0.113	0.22391	B	.	.	1.099813	0.14844	11.37	0.28530878413675936	0.01469	0.04269	0.09804	N	AEFBI	0.025387	0.01729	N	-0.227180045193329	0.32022	1.801572	-0.531142575380632	0.21310	1.152163	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	1.286000	0.32877	.	.	0.360000	0.20082	0.003000	0.16062	0.008000	0.19753	0.008000	0.08271	0.0:0.0:1.0:0.0	6.239	0.19989	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	.	.	.	.	.	.	.	.	0.07692	265.25	205	chr19	8908604	.	G	T	265.25	.	AC=2;AF=0.077;AN=26;BaseQRankSum=2.87;DP=2948;ExcessHet=0.119;FS=37.613;InbreedingCoeff=-0.1529;MLEAC=3;MLEAF=0.115;MQ=59.4;MQRankSum=-9.69;QD=0.69;ReadPosRankSum=1.23;SOR=7.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,16:168:99:0|1:8908590_A_G:214,0,6334:8908590	11	0	2	6
chr19	8908608	8908608	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37603G:p.S12535G	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00136832620583	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187553949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.33e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.323	0.13436	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.44	0.02139	T	-0.63	0.18459	N	0.212	0.23632	-0.9637	0.38468	T	0.006	0.02093	T	8	0.0662958	0.09070	T	0.001368	0.01986	T	0.017	0.02790	0.197	0.10975	0.0138822411134	0.00435	0.09901883307393754	0.09832	.	.	0.25038677454	0.03808	T	.	.	.	-0.353296	0.04524	T	-0.745261	0.03674	T	0.0603211808221808	0.07220	T	0.141186	0.01138	T	.	.	.	.	.	.	.	.	-9.901	0.73316	D	.	.	0.102	0.18037	B	.	.	1.349386	0.17571	13.24	0.28242686615049478	0.01441	0.00851	0.03397	N	AEFBI	0.024256	0.01472	N	-1.2564370111732	0.04215	0.1898217	-1.37586353734191	0.03511	0.163921	1.07308552085878E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-0.938	0.09882	0.886000	0.27878	.	.	0.353000	0.19991	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.4508:0.0:0.5492	4.293	0.10335	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	.	.	.	.	.	.	.	.	0.07143	216.19	203	chr19	8908608	.	T	C	216.19	.	AC=2;AF=0.071;AN=28;BaseQRankSum=2.22;DP=2925;ExcessHet=0.119;FS=34.742;InbreedingCoeff=-0.1344;MLEAC=3;MLEAF=0.107;MQ=59.37;MQRankSum=-9.761;QD=0.56;ReadPosRankSum=1.49;SOR=7.363	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,15:168:99:0|1:8908590_A_G:169,0,6379:8908590	12	0	2	5
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1917.3	201	chr19	8908637	.	C	G	1917.3	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.96;DP=3143;ExcessHet=4.0268;FS=16.444;InbreedingCoeff=-0.2764;MLEAC=8;MLEAF=0.211;MQ=58.64;MQRankSum=-9.108;QD=1.27;ReadPosRankSum=0.13;SOR=2.478	GT:AD:DP:GQ:PL	0/1:153,25:178:99:589,0,6309	11	0	8	0
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1957.35	205	chr19	8908644	.	C	G	1957.35	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.61;DP=3180;ExcessHet=4.0268;FS=14.083;InbreedingCoeff=-0.2681;MLEAC=8;MLEAF=0.211;MQ=58.45;MQRankSum=-9.064;QD=1.3;ReadPosRankSum=0.763;SOR=2.414	GT:AD:DP:GQ:PL	0/1:152,25:177:99:592,0,6264	11	0	8	0
chr19	9854801	9854801	G	C	exonic	OLFM2	.	nonsynonymous SNV	OLFM2:NM_001304348:exon5:c.C516G:p.D172E,OLFM2:NM_001304347:exon6:c.C822G:p.D274E,OLFM2:NM_058164:exon6:c.C750G:p.D250E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.0792427157215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999582	0.47691	D	2.47	0.71715	M	-2.4	0.88455	D	-2.05	0.47008	N	0.312	0.38438	0.529	0.90956	D	0.766	0.92023	D	9	0.6964848	0.72176	D	0.079243	0.73189	D	0.597	0.84019	0.571	0.69431	0.616309752723	0.61320	.	.	1.45215106663	0.86188	0.682164549828	0.64580	T	0.374173	0.82387	T	0.00502319	0.52346	T	-0.230561	0.51717	T	0.97174608707428	0.69433	D	0.971303	0.89644	D	0.22800027	0.45511	0.21998447	0.46757	0.22800027	0.45511	0.21998447	0.46756	-8.617	0.65202	D	.	.	0.696	0.81000	P	.;.;.	.;.;.	3.698712	0.52737	23.3	0.99704958505600771	0.80936	0.86476	0.45764	D	AEFDBI	0.465642	0.51363	N	0.404831549550597	0.61688	4.373243	0.331328797368957	0.57388	3.904456	0.053917881777599	0.14954	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	4.45	3.42	0.38259	0.721000	0.25580	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0978:0.0:0.9022:0.0	10.135	0.41876	878	0.29785	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	309.13	41	chr19	9854801	.	G	C	309.13	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.882;DP=1786;ExcessHet=0.7564;FS=174.643;InbreedingCoeff=-0.138;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=1.25;SOR=10.646	GT:AD:DP:GQ:PL	0/1:95,32:129:99:140,0,1509	14	0	4	1
chr19	10005886	10005886	C	T	exonic	COL5A3	.	nonsynonymous SNV	COL5A3:NM_015719:exon3:c.G347A:p.R116Q	.	.	.	.	.	.	.	.	.	.	.	4114719	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.0098314192069	.	.	1.68e-05	0	0	0	0	1.526e-05	0	6.079e-05	1.29e-05	2	154602	rs759264339	2.6e-05	2.668e-05	2.314e-05	2.888e-05	3.147e-05	1.933e-05	1.692e-05	2.285e-05	2.022e-05	0	2.236e-05	0	0	0	0	3.147e-05	1.656e-05	1.159e-05	7.227e-05	7.223e-05	2.569e-05	0.0001	0.0003	3.971e-05	3.127e-05	8.876e-05	5.385e-05	7.237e-05	0	0.0003	0	0	0	0	4.41e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.452	0.36118	B	0.041	0.23986	B	0.000182	0.48115	U	0.085942	0.760068	0.29548	N	0.555	0.15161	N	4.43	0.02158	T	0.78	0.01921	N	0.098	0.07949	-1.0212	0.23324	T	0.004	0.01400	T	10	0.10822204	0.20136	T	0.009831	0.25631	T	0.122	0.33800	.	.	0.515828161817	0.51224	0.34025902985320655	0.33938	0.12052743132	0.13571	0.385649263859	0.23055	T	0.016777	0.13800	T	-0.375952	0.03303	T	-0.647354	0.09140	T	0.0946376547217369	0.11757	T	0.770523	0.40040	T	0.054407716	0.10434	0.063988455	0.12757	0.054407716	0.10434	0.063988455	0.12757	-4.063	0.24743	T	.	.	0.088	0.11606	B	.	.	2.285044	0.29223	18.05	0.25309420621729406	0.01161	0.61785	0.31586	D	AEFDBI	0.270327	0.38641	N	-0.349352166296775	0.27295	1.496452	-0.220047770321962	0.30817	1.738506	0.999992303032889	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.02	4.02	0.45968	2.590000	0.45819	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.675000	0.33396	0.0:1.0:0.0:0.0	11.537	0.49894	934	0.15400	Laminin G 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	.	.	.	.	.	.	.	.	0.02632	783.33	70	chr19	10005886	.	C	T	783.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=1043;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.772;SOR=0.76	GT:AD:DP:GQ:PL	0/1:40,29:69:99:797,0,1022	18	0	1	0
chr19	10259663	10259665	GCT	-	exonic	MRPL4	.	nonframeshift deletion	MRPL4:NM_015956:exon9:c.786_788del:p.L263del,MRPL4:NM_146387:exon10:c.786_788del:p.L263del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.858e-07	6.84e-07	0	1.378e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1747.29	47	chr19	10259662	.	CGCT	C	1747.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.488;DP=839;ExcessHet=0;FS=0.78;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.47;ReadPosRankSum=1.91;SOR=0.542	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1761,0,2123	18	0	1	0
chr19	11405406	11405406	G	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.C1017G:p.N339K,RGL3:NM_001161616:exon8:c.C1017G:p.N339K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.196437592837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999782	0.49076	D	.	.	.	-0.44	0.69777	T	-5.56	0.86296	D	0.955	0.96416	0.121	0.84545	D	0.587	0.85193	D	10	0.9687301	0.96415	D	0.196438	0.86479	D	0.633	0.85924	0.856	0.95547	0.645372302287	0.64243	0.7254216986829906	0.72486	0.56572969357	0.52901	0.781132102013	0.79098	T	0.497296	0.81923	T	0.0551969	0.59008	T	-0.15849	0.58488	T	0.997808158397675	0.92464	D	0.953905	0.82456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.96466	P	.;.	.;.	3.588069	0.50618	23.0	0.99736088181629057	0.83119	0.90066	0.50957	D	AEFDBI	0.565574	0.57190	D	0.48326814403872	0.66114	4.908338	0.284030260583653	0.54608	3.625159	1.08984404763921E-4	0.05123	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	0.744	0.17503	0.403000	0.20706	.	.	0.676000	0.76740	0.998000	0.41325	0.995000	0.32472	0.700000	0.34141	0.3282:0.0:0.6718:0.0	8.708	0.33527	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	201.47	61	chr19	11405406	.	G	C	201.47	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-1.832;DP=1163;ExcessHet=0.3672;FS=116.377;InbreedingCoeff=-0.174;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.96;SOR=7.459	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,10:49:99:0|1:11405406_G_C:150,0,764:11405406	11	0	3	5
chr19	11405407	11405407	T	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.A1016G:p.N339S,RGL3:NM_001161616:exon8:c.A1016G:p.N339S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.767	0.11765181501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.842e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.46910	D	0.045	0.49942	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	-0.42	0.69536	T	-4.51	0.78222	D	0.926	0.93018	0.276	0.87164	D	0.556	0.83798	D	10	0.95189494	0.94530	D	0.117652	0.79749	D	0.767	0.92129	0.82	0.93328	0.643127189037	0.64018	0.5853249714877617	0.58462	0.473787794825	0.46581	0.688574552536	0.65501	T	0.388278	0.74899	T	0.0804978	0.62098	D	-0.122147	0.61625	T	0.997053503990173	0.90665	D	0.950605	0.81072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.78104	P	.;.	.;.	4.976953	0.82408	27.8	0.998584207163148	0.93729	0.98131	0.79864	D	AEFDBI	0.948277	0.95973	D	0.784910675588042	0.85151	8.491899	0.694214424071738	0.81937	7.645418	0.999407243211158	0.39524	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	7.669000	0.82880	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.686000	0.33718	0.0:0.0:0.0:1.0	14.148	0.64894	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	83.43	64	chr19	11405407	.	T	C	83.43	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.584;DP=1109;ExcessHet=0.119;FS=18.146;InbreedingCoeff=-0.0911;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=0.846;SOR=4.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,6:53:63:0|1:11405406_G_C:63,0,1900:11405406	16	0	2	1
chr19	11405408	11405408	T	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.A1015G:p.N339D,RGL3:NM_001161616:exon8:c.A1015G:p.N339D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	0.168257505331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.008	0.67890	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	.	.	.	-0.18	0.65747	T	-4.65	0.79399	D	0.96	0.96984	0.343	0.88221	D	0.548	0.83393	D	10	0.9538684	0.94736	D	0.168258	0.84641	D	0.769	0.92212	0.814	0.92925	0.613675013168	0.61056	0.6608127146749349	0.66018	0.561778919436	0.52677	0.76652097702	0.76902	T	0.327982	0.69844	T	0.0801504	0.62059	D	-0.122646	0.61584	T	0.998850345611572	0.95376	D	0.950205	0.80929	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.973	0.89808	P	.;.	.;.	5.124242	0.85718	28.7	0.99721545031508141	0.82054	0.98097	0.79572	D	AEFDBI	0.950693	0.96457	D	0.813542536876161	0.86945	9.051328	0.690744031826607	0.81677	7.582605	0.998160086688684	0.36515	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	7.669000	0.82880	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.658000	0.32913	0.0:0.0:0.0:1.0	13.594	0.61444	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	49.35	35	chr19	11405408	.	T	C	49.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.094;DP=926;ExcessHet=0;FS=7.948;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.932;SOR=2.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,6:53:63:0|1:11405406_G_C:63,0,1900:11405406	18	0	1	0
chr19	12675635	12675635	G	A	exonic	WDR83	.	nonsynonymous SNV	WDR83:NM_032332:exon9:c.G911A:p.R304Q,WDR83:NM_001099737:exon11:c.G911A:p.R304Q	.	407	1095	19	1	0	21	0.00949796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	0.0055	0.00938498	0.0158	0.0020	0.1013	0	0.0108	0.0085	0.0147	0.0060	0.014243	2202	154602	rs35092999	0.0094	0.0094	0.0097	0.0091	0.0778	0.0093	0.0092	0.0757	0.0748	0.0017	0.0778	0.0069	2.52e-05	0.0100	0.0083	0.0076	0.0080	0.0059	0.0090	0.0089	0.0084	0.0095	0.0377	0.0086	0.0084	0.0352	0.0342	0.0017	0	0.0377	0.0049	0.0004	0.0120	0	0.0077	0.0081	0.0060	0.533	0.06957	T	0.534	0.09965	T	0.645	0.40526	P	0.058	0.26451	B	0.000013	0.62929	D	0.115474	0.968532	0.38666	D	1.935	0.51832	L	0.94	0.43672	T	-0.59	0.17624	N	0.204	0.22614	-1.0753	0.08287	T	0.026	0.10954	T	10	0.0030876398	0.00051	T	.	.	.	0.181	0.45247	.	.	.	.	0.4598912286580295	0.45907	0.350156698946	0.36863	0.349375605583	0.17830	T	0.326822	0.69740	T	-0.46973	0.00853	T	-0.384132	0.35239	T	0.031882100544794	0.02287	T	0.853715	0.53946	D	0.097578995	0.23003	0.0824511	0.18819	0.097578995	0.23002	0.0824511	0.18819	-3.105	0.11353	T	.	.	0.123	0.25689	B	.	.	2.777217	0.36468	20.3	0.92374721560023865	0.21781	0.93157	0.57474	D	AEFDBHCI	0.855043	0.77212	D	0.231881359401382	0.52750	3.447254	0.319136028699639	0.56665	3.830181	0.999999999991758	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.88	5.88	0.94564	7.040000	0.76273	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.076000	0.17014	0.0:0.0:1.0:0.0	18.992	0.92773	730	0.54327	.	.	.	.	.	rs35092999	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008577	0.020619	0.000000	0.011696	0.000000	0.025862	0.003049	0.018939	0.02632	1573.33	35	chr19	12675635	.	G	A	1573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.48;DP=766;ExcessHet=0;FS=2.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.526;SOR=0.918	GT:AD:DP:GQ:PL	0/1:70,60:130:99:1587,0,1585	18	0	1	0
chr19	12767887	12767887	C	T	exonic	HOOK2	.	nonsynonymous SNV	HOOK2:NM_001100176:exon13:c.G1232A:p.R411Q,HOOK2:NM_013312:exon13:c.G1232A:p.R411Q	.	423	1092	6	1	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0753854153159	.	0.000998403	0.0005	0	0	0	0	6.146e-05	0.0011	0.0033	0.000414	64	154602	rs200777754	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0033	0.0032	8.965e-05	4.475e-05	0	0	0	0.0005	9.986e-05	0.0003	0.0037	0.0002	0.0002	0.0001	0.0002	0.0039	0.0001	9.231e-05	0.0026	0.0021	2.405e-05	0	0	0	0	0	0	5.879e-05	0	0.0039	0.002	0.72154	D	0.162	0.31225	T	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.060293	0.999515	0.47363	D	2.845	0.82663	M	1.76	0.25996	T	-3.5	0.68178	D	0.689	0.69474	-0.7295	0.58989	T	0.185	0.53361	T	10	0.037025332	0.02033	T	0.075385	0.72274	D	0.403	0.71636	.	.	0.536100336011	0.53261	0.6506373110810308	0.64999	0.928649804324	0.71733	0.668483257294	0.62621	T	0.180103	0.53132	T	-0.241972	0.15097	T	-0.124343	0.61444	T	0.220035727947626	0.21466	T	0.972003	0.90315	D	0.62380975	0.73967	0.5111519	0.71751	0.62380975	0.73968	0.5111519	0.71751	-9.323	0.69921	D	.	.	0.295	0.52565	B	.;.	.;.	4.799200	0.77957	26.8	0.99940199820010223	0.99767	0.92869	0.56746	D	AEFBCI	0.838258	0.75579	D	0.84016448441396	0.88539	9.61723	0.78281678570198	0.88574	9.633475	0.999999993212944	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.61	4.57	0.55860	5.588000	0.67210	.	.	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.652000	0.32748	0.0:0.9234:0.0:0.0766	13.833	0.62887	624	0.65661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1152.33	35	chr19	12767887	.	C	T	1152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.61;DP=723;ExcessHet=0;FS=4.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.39;SOR=1.232	GT:AD:DP:GQ:PL	0/1:51,41:92:99:1166,0,1331	18	0	1	0
chr19	14085461	14085461	C	A	exonic	C19orf67	.	nonsynonymous SNV	C19orf67:NM_001277378:exon1:c.G167T:p.G56V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00373620905583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.338e-06	4.104e-06	2.855e-06	5.861e-06	0.0002	1.56e-06	1.03e-06	7.4e-07	2.1e-07	0	0	0	0	0	0.0002	2.781e-06	3.455e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	0	0.06538	N	.	.	.	-2.01	0.46337	N	0.184	0.19995	-1.0236	0.22541	T	0.043	0.18368	T	6	0.07279736	0.10914	T	0.003736	0.08651	T	0.074	0.21613	0.13	0.03494	0.226586394389	0.22295	0.13819022387102511	0.13743	.	.	.	.	.	0.022876	0.17561	T	-0.17588	0.24349	T	-0.490416	0.23347	T	0.0789640754012081	0.09853	T	0.426357	0.11459	T	0.045714054	0.07531	0.048958078	0.07382	0.045714054	0.07531	0.048958078	0.07382	-4.767	0.34204	T	.	.	0.095	0.15025	B	.	.	2.314311	0.29627	18.18	0.93614696543671072	0.23480	0.06042	0.12011	N	AEFDBI	0.063269	0.12218	N	-0.907963416043655	0.10655	0.5101964	-1.02500325970678	0.09237	0.4583993	0.999940749814573	0.47345	0.475973	0.10046	0	0.601575	0.49859	0	0.606814	0.37721	0	0.727631	0.95156	0	.	.	3.65	0.155	0.14200	0.800000	0.26703	.	.	-0.202000	0.08738	0.012000	0.18695	0.018000	0.20648	0.005000	0.06747	0.0:0.5559:0.2046:0.2395	3.752	0.08096	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1503.33	35	chr19	14085461	.	C	A	1503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.088;DP=780;ExcessHet=0;FS=4.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.562;SOR=0.402	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1517,0,1577	18	0	1	0
chr19	14695076	14695076	C	G	exonic	ZNF333	.	nonsynonymous SNV	ZNF333:NM_001300912:exon3:c.C70G:p.R24G,ZNF333:NM_001352244:exon3:c.C70G:p.R24G,ZNF333:NM_032433:exon3:c.C70G:p.R24G	.	428	1071	22	1	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0048	0.00179712	0.0051	0.0012	0.0030	0	0.0012	0.0070	0.0044	0.0059	0.0050064	774	154602	rs61995698	0.0054	0.0054	0.0052	0.0056	0.0069	0.0053	0.0052	0.0062	0.0060	0.0009	0.0024	0.0217	0	0.0016	0.0069	0.0055	0.0063	0.0066	0.0037	0.0037	0.0040	0.0035	0.0056	0.0035	0.0034	0.0051	0.0049	0.0008	0.0066	0.0019	0.0219	0	0.0010	0.0034	0.0055	0.0057	0.0056	0.063	0.36709	T	0.323	0.62352	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.755	0.19153	N	4.6	0.01868	T	-0.34	0.12661	N	0.203	0.46086	-0.9369	0.43103	T	0.005	0.01651	T	9	0.0104111135	0.00232	T	.	.	.	0.026	0.05648	.	.	0.0611884634855	0.05136	0.17252882160459376	0.17172	0.385318713924	0.39823	0.195522025228	0.00338	T	0.00122	0.00717	T	-0.602352	0.00141	T	-0.635401	0.10008	T	0.0053354593183709	0.00058	T	0.844016	0.52772	T	0.040952135	0.05941	0.041216798	0.04634	0.040952135	0.05941	0.041216798	0.04634	-5.228	0.39225	T	.	.	0.185	0.56258	B	.;.;.	.;.;.	0.208017	0.05921	2.359	0.94935240856241476	0.25824	0.04830	0.10558	N	AEFDBHCI	0.041360	0.06278	N	-1.22139540723132	0.04691	0.2122363	-1.36471555759378	0.03635	0.1699831	0.00137244476311614	0.08487	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.636168	0.56350	0	.	.	2.24	-2.75	0.05564	-0.126000	0.10539	.	.	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3614:0.2075:0.4311	3.484	0.07175	952	0.10565	.;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	0.004532	0.005051	0.004076	0.000000	0.000000	0.000000	0.009146	0.003788	0.07895	3412.79	36	chr19	14695076	.	C	G	3412.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.362;DP=970;ExcessHet=0.3672;FS=0.852;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.384;SOR=0.75	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1185,0,1627	16	0	3	0
chr19	15742072	15742072	T	C	exonic	OR10H3	.	nonsynonymous SNV	OR10H3:NM_013938:exon1:c.T680C:p.I227T	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00147771066605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.029	0.54541	D	0.055	0.22733	B	0.069	0.27757	B	0.020123	0.27106	U	0.170431	1	0.08975	N	3.53	0.93071	H	8.39	0.00243	T	-4.4	0.77308	D	0.142	0.14196	-0.9961	0.31001	T	0.001	0.00318	T	10	0.3855527	0.54512	T	0.001478	0.02267	T	0.090	0.26093	0.793	0.91438	0.405839309607	0.40195	0.07647593884922571	0.07583	0.076699842996	0.08613	0.27299785614	0.06535	T	0.009672	0.08788	T	-0.131347	0.31277	T	-0.426447	0.30340	T	0.357836257687421	0.27324	T	0.837416	0.50983	T	0.49829435	0.66995	0.48447543	0.70158	0.49829435	0.66996	0.48447543	0.70158	-7.973	0.60886	D	.	.	0.264	0.49807	B	.;.	.;.	2.764955	0.36273	20.2	0.96602957867436645	0.30412	0.12476	0.17292	N	AEFGBI	0.069116	0.13666	N	-0.484936188236524	0.22575	1.20632	-0.583697828145078	0.19918	1.070817	0.193588535053993	0.18030	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	2.37	0.28337	3.017000	0.49302	.	.	-0.308000	0.06107	0.089000	0.22556	0.009000	0.19889	0.819000	0.38590	0.0:0.0:0.0:1.0	8.241	0.30818	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3075.33	138	chr19	15742072	.	T	C	3075.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.085;DP=2011;ExcessHet=0;FS=1.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.314;SOR=0.835	GT:AD:DP:GQ:PL	0/1:127,115:242:99:3089,0,3445	18	0	1	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	2986.13	40	chr19	17286692	.	T	*	2986.13	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0;DP=1155;ExcessHet=0.5777;FS=0;InbreedingCoeff=0.0134;MLEAC=21;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=4.33;ReadPosRankSum=1.35;SOR=0.666	GT:AD:DP:GQ:PL	0/1:16,8:33:45:872,0,736	4	6	8	1
chr19	18009039	18009039	G	A	exonic	ARRDC2	.	nonsynonymous SNV	ARRDC2:NM_001025604:exon3:c.G395A:p.R132Q,ARRDC2:NM_001286826:exon3:c.G410A:p.R137Q,ARRDC2:NM_015683:exon3:c.G410A:p.R137Q	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.111775852488	0.0018	0.000199681	0.0025	0.0007	0.0002	0	0.0014	0.0038	0.0011	0.0021	0.0024579	380	154602	rs1046806	0.0026	0.0026	0.0026	0.0026	0.0031	0.0025	0.0025	0.0030	0.0029	0.0003	0.0004	3.826e-05	2.519e-05	0.0015	0.0007	0.0031	0.0018	0.0021	0.0016	0.0016	0.0017	0.0015	0.0028	0.0014	0.0014	0.0025	0.0023	0.0005	0.0044	0.0006	0	0	0.0007	0	0.0028	0.0014	0.0021	0.002	0.72154	D	0.005	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000033	0.55875	D	0.119643	1	0.81001	D	2.825	0.82220	M	3.06	0.16640	T	-3.07	0.64478	D	0.802	0.80375	-0.8203	0.53915	T	0.138	0.45602	T	10	0.017903268	0.00385	T	0.111776	0.78968	D	0.549	0.81310	.	.	0.724876110521	0.72244	0.8066635722234159	0.80621	1.37477819653	0.84638	0.631002783775	0.57287	T	0.026284	0.19484	T	-0.0993908	0.36525	T	0.0867899	0.76030	D	0.035177246695513	0.02837	T	0.962504	0.91141	D	0.7432936	0.80481	0.63995504	0.78968	0.7432936	0.80483	0.63995504	0.78969	-7.872	0.63190	D	.	.	0.195	0.50627	B	.;.;.	.;.;.	5.581933	0.92310	32	0.99951300073080829	0.99944	0.96321	0.68567	D	AEFDBCI	0.905447	0.85698	D	0.838907652487476	0.88466	9.589557	0.767374582653736	0.87449	9.225833	0.999999999999988	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.536845	0.12434	2	.	.	4.44	4.44	0.53164	9.753000	0.98088	9.657000	0.81185	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	16.45	0.83819	964	0.07719	.;Arrestin-like, N-terminal;Arrestin-like, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	997.33	33	chr19	18009039	.	G	A	997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=783;ExcessHet=0;FS=4.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.303;SOR=0.639	GT:AD:DP:GQ:PL	0/1:70,41:111:99:1011,0,1725	18	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	30912.4	64	chr19	20624371	.	G	*	30912.4	.	AC=10;AF=0.313;AN=32;BaseQRankSum=1.9;DP=1614;ExcessHet=0.9163;FS=1.409;InbreedingCoeff=0.1244;MLEAC=11;MLEAF=0.344;MQ=58.38;MQRankSum=-2.592;QD=22.29;ReadPosRankSum=2.61;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,65:65:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1299,132,0:20624327	11	5	0	3
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	29655.5	64	chr19	20624379	.	C	*	29655.5	.	AC=10;AF=0.313;AN=32;BaseQRankSum=2.05;DP=1564;ExcessHet=0.9163;FS=1.397;InbreedingCoeff=0.1244;MLEAC=11;MLEAF=0.344;MQ=58.21;MQRankSum=-2.479;QD=21.43;ReadPosRankSum=0.295;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,65:65:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1299,132,0:20624327	11	5	0	3
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	6047.41	76	chr19	21383393	.	G	*	6047.41	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.652;DP=1171;ExcessHet=0.6984;FS=2.485;InbreedingCoeff=0.0952;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=1.4;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,40:82:99:.:.:1561,0,1627:.	13	1	5	0
chr19	22316140	22316140	G	C	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.G2723C:p.C908S	.	455	1034	30	3	0	36	0.0171103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00519169	0.0075	0.0012	0.0111	0.0001	0.0014	0.0091	0.0138	0.0078	0.0012031	186	154602	rs142098308	0.0085	0.0085	0.0085	0.0086	0.0093	0.0084	0.0084	0.0091	0.0090	0.0017	0.0077	0.0157	5.051e-05	0.0016	0.0091	0.0093	0.0091	0.0078	0.0061	0.0061	0.0063	0.0059	0.0093	0.0058	0.0056	0.0087	0.0084	0.0017	0	0.0065	0.0191	0	0.0009	0.0250	0.0093	0.0058	0.0066	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715	0.18665	N	2.48	0.14657	T	.	.	.	0.204	0.22614	.	.	.	.	.	.	.	0.0044867396	0.00092	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.015598078918658713	0.01515	0.0172638176205	0.01676	0.30238366127	0.10757	T	8.34E-4	0.00412	T	-0.650453	0.00072	T	-0.699146	0.05873	T	.	.	.	0.0314968	0.00200	T	0.047399435	0.08094	0.13892062	0.33163	0.047399435	0.08094	0.13892062	0.33162	-8.164	0.62182	D	.	.	0.298	0.52865	B	.	.	0.876322	0.12494	9.025	0.55101015167109779	0.05272	0.00627	0.02761	N	AEFBI	0.040645	0.06074	N	.	.	.	.	.	.	2.15940728930178E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.0	0.07024	-0.416000	0.07162	.	.	-1.010000	0.01767	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5207:0.0:0.2468:0.2325	2.439	0.04217	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	ZNF724	Artery_Aorta	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010417	0.000000	0.005435	0.005319	0.000000	0.025862	0.018519	0.019231	0.02632	1905.33	34	chr19	22316140	.	G	C	1905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.348;DP=819;ExcessHet=0;FS=0.587;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.4;MQRankSum=0.57;QD=12.06;ReadPosRankSum=-1.942;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,75:158:99:0|1:22316140_G_C:1919,0,2155:22316140	18	0	1	0
chr19	23827938	23827938	T	G	exonic	RPSAP58	.	nonsynonymous SNV	RPSAP58:NM_001355283:exon4:c.T777G:p.I259M,RPSAP58:NM_001355287:exon5:c.T777G:p.I259M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00352997395971	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs760234700	2.673e-05	1.481e-05	1.128e-05	4.067e-05	0.0003	1.745e-05	1.419e-05	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	1.322e-05	1.314e-05	0	2.71e-05	0.0004	2.2e-06	8.2e-07	7.416e-05	3.075e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	268.38	6	chr19	23827938	.	T	G	268.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.174;DP=207;ExcessHet=0;FS=0;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.026;MQ=37.09;MQRankSum=-0.876;QD=16.77;ReadPosRankSum=-0.257;SOR=0.976	GT:AD:DP:GQ:PL	0/1:7,9:16:99:282,0,224	18	0	1	0
chr19	33206250	33206250	C	T	exonic	LRP3	.	nonsynonymous SNV	LRP3:NM_002333:exon5:c.C1480T:p.P494S	.	.	.	.	.	.	.	.	.	.	.	2205555	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.754	0.458710343378	.	.	1.996e-05	0	0	0	0	3.599e-05	0	0	3.84e-05	1	26028	rs761159779	1.799e-05	2.805e-05	2.061e-05	1.534e-05	2.267e-05	1.252e-05	1.064e-05	1.387e-05	1.158e-05	0	2.267e-05	0	0	2.13e-05	0	2.082e-05	1.674e-05	0	1.971e-05	1.97e-05	2.568e-05	1.345e-05	6.54e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.54e-05	0	0	0	0	2.94e-05	0	0	0.123	0.27544	T	0.094	0.39645	T	0.78	0.44271	P	0.335	0.42239	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	-2.4	0.88455	D	-5.11	0.83092	D	0.811	0.80669	0.586	0.91718	D	0.750	0.91493	D	10	0.85392857	0.84581	D	0.45871	0.94474	D	0.754	0.91583	0.586	0.71371	0.936766513862	0.93611	0.7380320139644899	0.73748	0.487953927305	0.47613	0.839656114578	0.88043	D	0.201515	0.55942	T	0.25523	0.79086	D	0.128844	0.78815	D	0.760824501514435	0.43899	D	0.976602	0.91883	D	0.37810272	0.59179	0.376	0.62755	0.37810272	0.59180	0.376	0.62754	-12.373	0.86620	D	.	.	0.938	0.85731	P	.	.	4.681655	0.74923	26.2	0.99890210042200001	0.96436	0.99722	0.98964	D	AEFDGBI	0.961746	0.98309	D	0.49246871063903	0.66649	4.977489	0.522202278262713	0.69485	5.367369	0.999999999977273	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.699875	0.68795	0	.	.	5.35	5.35	0.76297	7.859000	0.85380	7.688000	0.65646	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:1.0:0.0:0.0	18.041	0.89243	577	0.69927	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2010.33	42	chr19	33206250	.	C	T	2010.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=880;ExcessHet=0;FS=6.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.418;SOR=1.205	GT:AD:DP:GQ:PL	0/1:68,77:145:99:2024,0,1640	18	0	1	0
chr19	35511468	35511468	A	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	903.11	81	chr19	35511468	.	A	*	903.11	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.624;DP=1036;ExcessHet=0.1204;FS=1.808;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=-1.292;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,39:96:99:.:.:1478,0,2253:.	13	2	4	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	699.14	81	chr19	35511491	.	C	*	699.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.41;DP=1048;ExcessHet=0.1204;FS=1.128;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=0.413;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,39:96:99:.:.:1478,0,2253:.	13	2	4	0
chr19	36039370	36039370	G	-	exonic	THAP8	.	frameshift deletion	THAP8:NM_001331103:exon3:c.496delC:p.H166Tfs*16,THAP8:NM_001331104:exon3:c.496delC:p.H166Tfs*16,THAP8:NM_152658:exon3:c.625delC:p.H209Tfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	.	0.0010	0.0023	0	0	0	0.0032	0	0	0.0001921	5	26028	rs552924745	0.0026	0.0026	0.0028	0.0025	0.0031	0.0025	0.0025	0.0030	0.0030	0.0007	0.0005	0.0004	0	0.0038	0.0004	0.0031	0.0017	3.794e-05	0.0018	0.0018	0.0019	0.0018	0.0033	0.0017	0.0016	0.0029	0.0028	0.0003	0.0011	0.0004	0	0	0.0034	0	0.0033	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1397.29	33	chr19	36039369	.	TG	T	1397.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.346;DP=719;ExcessHet=0;FS=3.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.25;ReadPosRankSum=-0.623;SOR=1.251	GT:AD:DP:GQ:PL	0/1:29,40:69:99:1411,0,957	18	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2222	2917.36	105	chr19	37887093	.	A	G	2917.36	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-4.617;DP=2024;ExcessHet=4.0268;FS=255.677;InbreedingCoeff=-0.2893;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=3.22;ReadPosRankSum=1.55;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,22:108:99:0|1:37887093_A_G:171,0,3120:37887093	10	0	8	1
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.3214	3330.01	92	chr19	37887095	.	C	T	3330.01	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-3.747;DP=1972;ExcessHet=5.3738;FS=263.164;InbreedingCoeff=-0.434;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=1.09;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,22:108:99:0|1:37887093_A_G:171,0,3120:37887093	5	0	9	5
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	4138.4	92	chr19	37887096	.	A	G	4138.4	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-3.922;DP=2038;ExcessHet=8.9063;FS=263.024;InbreedingCoeff=-0.515;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.31;ReadPosRankSum=1.27;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,27:109:99:0|1:37887093_A_G:420,0,2103:37887093	4	0	11	4
chr19	37896196	37896196	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon3:c.G188A:p.S63N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.158833092727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.428e-06	6.156e-06	2.819e-06	1.014e-05	0.0004	3.03e-06	2.19e-06	6.155e-05	2.545e-05	0	0	0	0	0	0.0004	0	1.719e-05	7.572e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.23183	T	0.229	0.25210	T	0.067	0.23653	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	.	.	.	-0.83	0.74159	T	-0.32	0.12283	N	0.443	0.48134	-1.0276	0.21233	T	0.143	0.46477	T	8	0.101879686	0.18640	T	0.158833	0.83915	D	0.136	0.36778	0.345	0.33950	0.0986583533028	0.09354	0.12800629600678834	0.12725	.	.	.	.	.	.	.	.	-0.215997	0.18542	T	-0.548041	0.17513	T	0.123642973601818	0.14782	T	0.306369	0.05889	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.37914	B	.	.	1.172923	0.15627	11.99	0.52425315992452837	0.04746	0.02404	0.06808	N	AEFGBI	0.037740	0.05236	N	-1.51146478112669	0.01773	0.07770423	-1.64238266299174	0.01416	0.06400495	0.999999927425275	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.77	-11.5	0.00057	-0.168000	0.09914	.	.	-1.180000	0.01387	0.081000	0.22364	0.000000	0.08366	0.071000	0.16709	0.3227:0.1093:0.3788:0.1891	2.536	0.04428	646	0.63441	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2088.33	41	chr19	37896196	.	C	T	2088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=815;ExcessHet=0;FS=1.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.427;SOR=0.815	GT:AD:DP:GQ:PL	0/1:104,86:190:99:2102,0,2321	18	0	1	0
chr19	38731145	38731145	C	T	exonic	CAPN12	.	nonsynonymous SNV	CAPN12:NM_144691:exon19:c.G2036A:p.R679Q	.	424	1095	3	0	0	3	0.00136799	.	.	.	2348714	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.0121104230062	0.0002	.	0.0001	0.0002	0	0	0	6.439e-05	0	0.0005	0.0001035	16	154602	rs139019209	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0003	0.0002	5.974e-05	0.0002	0	5.038e-05	0	0.0009	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	9.401e-05	0.0002	6.507e-05	5.319e-05	5.283e-05	2.834e-05	4.813e-05	0	0.0002	0	0	0	0.0068	8.819e-05	0.0014	0	0.01	0.56456	D	0.119	0.44501	T	0.76	0.43524	P	0.115	0.31843	B	0.003316	0.35125	N	0.301209	1	0.81001	D	1.79	0.46772	L	1.61	0.28391	T	-0.57	0.17210	N	0.432	0.47301	-1.0415	0.16860	T	0.052	0.22114	T	10	0.13091013	0.24914	T	0.01211	0.30386	T	0.051	0.14325	.	.	0.28492961333	0.28089	0.20739148982569808	0.20655	0.107864847928	0.12164	0.260474383831	0.04947	T	0.012539	0.11001	T	-0.395642	0.02473	T	-0.509897	0.21325	T	0.0422586064004795	0.04103	T	0.79692	0.44048	T	0.053111333	0.10001	0.04760646	0.06894	0.053111333	0.10001	0.04760646	0.06894	-7.032	0.54267	T	.	.	0.093	0.19879	B	.;.;.	.;.;.	1.337629	0.17438	13.16	0.99742731066342472	0.83629	0.23448	0.22079	N	AEFDBCI	0.086915	0.17624	N	-0.392754851500392	0.25727	1.398702	-0.477979946954952	0.22761	1.237895	0.999955885294484	0.48110	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.508809	0.08732	0	.	.	4.74	-1.21	0.09033	-0.690000	0.05240	-2.691000	0.03462	-0.253000	0.07101	0.385000	0.26047	0.000000	0.08366	0.124000	0.19330	0.0:0.5845:0.0:0.4155	8.114	0.30091	698	0.58074	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2383.33	33	chr19	38731145	.	C	T	2383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=840;ExcessHet=0;FS=1.193;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.256;SOR=0.816	GT:AD:DP:GQ:PL	0/1:80,92:172:99:2397,0,1877	18	0	1	0
chr19	38808815	38808815	T	G	exonic	LGALS4	.	nonsynonymous SNV	LGALS4:NM_006149:exon3:c.A268C:p.K90Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0121606359453	.	.	4.118e-05	0	0	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs757382792	1.026e-05	1.026e-05	6.806e-06	1.375e-05	0.0002	6.16e-06	4.89e-06	0.0001	8.645e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.132	0.34477	T	0.194	0.29493	B	0.036	0.22909	B	0.000768	0.41888	D	0.220692	0.792931	0.29204	N	1.745	0.45235	L	3.4	0.05642	T	-2.41	0.52938	N	0.229	0.25745	-1.0639	0.10807	T	0.020	0.08220	T	10	0.081411034	0.13324	T	0.012161	0.30482	T	0.084	0.24469	0.374	0.38667	0.335910606209	0.33200	0.29390903289798226	0.29303	0.177586304316	0.19982	0.518823981285	0.41461	T	0.261412	0.63289	T	-0.493649	0.00621	T	-0.65472	0.08626	T	0.122165806591511	0.14639	T	.	.	.	0.47413287	0.65544	0.2002848	0.43952	0.47413287	0.65544	0.2002848	0.43951	-6.386	0.49400	T	.	.	0.268	0.50213	B	.	.	3.050535	0.40926	21.3	0.98366573487658659	0.40699	0.19618	0.20730	N	AEFDBI	0.211355	0.33715	N	-0.207278233238125	0.32834	1.856	-0.198199015184695	0.31603	1.790045	0.463892390876992	0.20647	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.28	5.28	0.74118	1.482000	0.35094	5.904000	0.50927	0.641000	0.52212	0.034000	0.20669	1.000000	0.68203	0.845000	0.39915	0.0:0.0:0.1581:0.8419	10.845	0.45944	583	0.69484	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition 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	.	.	.	.	.	.	.	.	0.02632	1118.33	38	chr19	38808815	.	T	G	1118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.17;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.803;SOR=0.738	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1132,0,1335	18	0	1	0
chr19	39244094	39244094	T	C	exonic	IFNL3	.	nonsynonymous SNV	IFNL3:NM_172139:exon3:c.A322G:p.T108A,IFNL3:NM_001346937:exon4:c.A334G:p.T112A	.	408	1081	33	0	0	33	0.0150342	.	.	.	716424	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.027	.	0.0080	0.00658946	0.0063	0.0084	0.0023	0	0.0009	0.0072	0.0033	0.0096	0.0057502	889	154602	rs148543092	0.0076	0.0077	0.0076	0.0076	0.0153	0.0075	0.0075	0.0127	0.0117	0.0075	0.0028	0.0169	2.519e-05	0.0005	0.0153	0.0080	0.0090	0.0096	0.0065	0.0066	0.0069	0.0061	0.0098	0.0062	0.0061	0.0076	0.0068	0.0072	0.0011	0.0033	0.0170	0	0.0003	0.0272	0.0075	0.0057	0.0098	0.598	0.05668	T	0.564	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.181763	0.03187	N	1.646800	1	0.08975	N	-0.805	0.01590	N	1.63	0.28002	T	0.07	0.06138	N	0.095	0.08786	-1.0032	0.28992	T	0.013	0.04843	T	10	0.004872024	0.00104	T	.	.	.	0.027	0.05988	.	.	0.0551355673512	0.04727	0.06321474939485254	0.06260	0.194421687405	0.21778	0.238838389516	0.02687	T	0.00212	0.01528	T	-0.653927	0.00068	T	-0.704564	0.05580	T	0.000677952636739895	0.00006	T	0.0663934	0.00484	T	0.06118931	0.12643	0.05127555	0.08218	0.06118931	0.12643	0.05127555	0.08217	-2.013	0.03230	T	.	.	0.061	0.01161	B	.;.	.;.	-1.429335	0.00340	0.006	0.26308200845364488	0.01254	0.00123	0.00769	N	AEFDGI	0.018149	0.00528	N	-2.01541304609239	0.00196	0.008400045	-2.0513431503479	0.00237	0.01046984	0.0605367096954669	0.15200	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.1	-5.88	0.02100	-3.477000	0.00510	.	.	-1.370000	0.01171	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.2254:0.0:0.7746	10.056	0.41419	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011078	0.000000	0.005435	0.023392	0.000000	0.025862	0.018293	0.011364	0.02632	1537.33	50	chr19	39244094	.	T	C	1537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.097;DP=896;ExcessHet=0;FS=0.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=1.39;SOR=0.619	GT:AD:DP:GQ:PL	0/1:72,64:136:99:1551,0,1846	18	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	853.21	33	chr19	40667990	.	CTGT	*	853.21	.	AC=24;AF=0.632;AN=38;DP=856;ExcessHet=5.6906;FS=0.635;InbreedingCoeff=-0.2859;MLEAC=24;MLEAF=0.632;MQ=60;QD=1.1;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,25:46:99:0|1:40667975_C_T:987,0,779:40667975	1	6	12	0
chr19	40667993	40668002	TTGCTGTTGC	0	exonic	NUMBL	.	.	.	.	438	226	37	0	821	858	0.0756646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	78.42	33	chr19	40667993	.	TTGCTGTTGC	*	78.42	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.002;DP=861;ExcessHet=1.8686;FS=0.664;InbreedingCoeff=-0.0857;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=0.1;ReadPosRankSum=0.057;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,25:46:99:0|1:40667975_C_T:987,0,779:40667975	1	7	11	0
chr19	41237981	41237981	G	A	exonic	AXL	.	nonsynonymous SNV	AXL:NM_001278599:exon4:c.G17A:p.G6E,AXL:NM_001699:exon7:c.G821A:p.G274E,AXL:NM_021913:exon7:c.G821A:p.G274E	.	416	1105	1	0	0	1	0.000452284	.	.	.	1371832	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.233	0.0564868978415	.	.	0.0001	0	0	0	0	0.0002	0.0011	0	0.0001164	18	154602	rs747220380	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	2.987e-05	0.0002	0.0011	0	0	0.0016	0.0001	0.0004	9.276e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	6.55e-05	0.0009	0	0	0.0032	0.0003	0	0	0.426	0.30515	T	0.509	0.33554	T	0.229	0.32311	B	0.175	0.36047	B	0.049710	0.23136	U	0.359195	0.782723	0.34287	D	1.95	0.52479	M	-0.94	0.75325	T	-1.68	0.40082	N	0.516	0.62611	-0.7774	0.56448	T	0.213	0.57428	T	10	0.20559645	0.36792	T	0.056487	0.66621	D	0.233	0.53499	.	.	0.470228732361	0.46650	0.6233070544354946	0.62263	0.396917428086	0.40799	0.352018624544	0.18219	T	0.132953	0.46335	T	-0.212687	0.19002	T	-0.23731	0.51061	T	0.0314469829018591	0.02216	T	0.79922	0.44465	T	0.10479236	0.24775	0.15017852	0.35428	0.10479236	0.24775	0.15017852	0.35427	-3.272	0.13378	T	.	.	0.067	0.03060	B	.;.;.	.;.;.	3.076843	0.41376	21.3	0.98688686502489176	0.44723	0.83353	0.42477	D	AEFDBI	0.144893	0.26797	N	-0.387739270678841	0.25904	1.40977	-0.293874812227484	0.28300	1.576932	0.999339192158191	0.39185	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.11	4.11	0.47350	2.399000	0.44148	9.910000	0.82419	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.1126:0.0:0.8874:0.0	7.950	0.29170	538	0.73119	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	890.33	34	chr19	41237981	.	G	A	890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.22;DP=671;ExcessHet=0;FS=4.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.55;ReadPosRankSum=-0.52;SOR=0.255	GT:AD:DP:GQ:PL	0/1:21,27:48:99:904,0,551	18	0	1	0
chr19	43195052	43195052	C	A	exonic	PSG4	.	stopgain	PSG4:NM_001276495:exon3:c.G652T:p.E218X,PSG4:NM_001316339:exon3:c.G565T:p.E189X,PSG4:NM_002780:exon4:c.G931T:p.E311X	.	14	1445	63	0	0	63	0.0213342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00439297	0.0054	9.628e-05	0.0013	0.0001	0.0012	0.0033	0.0055	0.0246	0.0047606	736	154602	rs147584129	0.0038	0.0038	0.0031	0.0045	0.0246	0.0037	0.0037	0.0237	0.0234	0.0004	0.0017	0.0092	0.0001	0.0007	0.0154	0.0024	0.0042	0.0246	0.0024	0.0025	0.0020	0.0029	0.0235	0.0022	0.0021	0.0200	0.0187	0.0005	0	0.0016	0.0076	0.0004	0.0006	0.0034	0.0025	0.0033	0.0235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.053	0.02462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00454612	0.51026	T	0.238947	0.85101	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;.	High;.;.	6.631227	0.95511	35	0.98047665674102158	0.37843	0.02893	0.07682	N	AEFI	0.065985	0.12899	N	0.0948068697086606	0.46220	2.865795	-0.329135309425047	0.27162	1.505306	3.08458017946517E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.45	1.45	0.21708	0.768000	0.26252	.	.	-0.748000	0.03609	0.084000	0.22438	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	6.272	0.20167	814	0.42100	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018605	0.013699	0.010929	0.034483	0.000000	0.000000	0.025000	0.032787	0.02632	3244.33	34	chr19	43195052	.	C	A	3244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.098;DP=999;ExcessHet=0;FS=11.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.33;MQRankSum=-8.894;QD=11.04;ReadPosRankSum=1.1;SOR=0.351	GT:AD:DP:GQ:PL	0/1:156,138:294:99:3258,0,4220	18	0	1	0
chr19	43914999	43914999	C	T	exonic	ZNF45	.	nonsynonymous SNV	ZNF45:NM_003425:exon10:c.G437A:p.S146N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00312665278992	.	.	1.661e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs763889724	2.751e-06	4.788e-06	4.099e-06	1.385e-06	9.047e-05	6.4e-07	4.3e-07	2.397e-05	1.264e-05	9.047e-05	0	0	0	0	0	9.038e-07	0	0	1.971e-05	1.97e-05	3.853e-05	0	7.236e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	0	0	0	0.572	0.06145	T	0.108	0.37589	T	0.015	0.17086	B	0.004	0.10090	B	0.565193	0.05447	N	1.329360	1	0.08975	N	0.51	0.13489	N	2.35	0.16217	T	-0.35	0.12847	N	0.034	0.01135	-0.9790	0.35231	T	0.032	0.13811	T	10	0.059865475	0.07264	T	0.003127	0.06815	T	0.040	0.10527	.	.	0.215109475489	0.21095	0.1130057698155615	0.11228	0.169148134631	0.19067	0.231817916036	0.02105	T	0.020822	0.16323	T	-0.537667	0.00346	T	-0.773429	0.02657	T	0.0105001855562884	0.00145	T	0.0842916	0.09420	T	0.027025934	0.01838	0.036350884	0.03066	0.027025934	0.01838	0.036350884	0.03065	-5.867	0.45153	T	.	.	0.083	0.14108	B	.;.;.;.	.;.;.;.	0.451688	0.08217	4.955	0.46030335872620071	0.03657	0.03672	0.08936	N	AEFBI	0.029240	0.02725	N	-1.07575094694542	0.07092	0.3284514	-1.14943610364949	0.06778	0.327421	0.00284738656738171	0.09746	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.97	0.91	0.18466	0.939000	0.28576	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.8342:0.0:0.1658	6.594	0.21856	861	0.33516	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	141.33	36	chr19	43914999	.	C	T	141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.93;DP=1263;ExcessHet=0;FS=67.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=1.77;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,19:124:99:0|1:43914999_C_T:155,0,4164:43914999	18	0	1	0
chr19	43915002	43915002	A	G	exonic	ZNF45	.	nonsynonymous SNV	ZNF45:NM_003425:exon10:c.T434C:p.F145S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0142641972036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.115	0.36630	T	0.039	0.21116	B	0.012	0.16012	B	0.263507	0.15267	N	0.483859	1	0.08975	N	1.58	0.39772	L	0.99	0.41750	T	-0.67	0.19297	N	0.546	0.59138	-0.9603	0.39124	T	0.095	0.35765	T	10	0.13747591	0.26151	T	0.014264	0.34257	T	0.132	0.35948	0.549	0.66436	0.325533332567	0.32158	0.2134923335136329	0.21265	0.374009335995	0.38869	0.324858486652	0.14156	T	0.041617	0.25916	T	-0.185184	0.22966	T	-0.50378	0.21955	T	0.0397184677422047	0.03640	T	0.0791921	0.07698	T	0.05192582	0.09609	0.052913338	0.08811	0.05192582	0.09608	0.052913338	0.08810	-1.615	0.02017	T	.	.	0.093	0.36073	B	.;.;.;.	.;.;.;.	0.794415	0.11650	8.234	0.79185666710255342	0.12628	0.05230	0.11061	N	AEFBI	0.019774	0.00717	N	-0.903664791832601	0.10756	0.5155638	-1.0461848731621	0.08787	0.4337434	0.00269606295461939	0.09639	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.68	-1.56	0.08080	-0.191000	0.09598	.	.	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2416:0.4787:0.1108:0.1689	2.546	0.04450	861	0.33516	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	129.33	36	chr19	43915002	.	A	G	129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.882;DP=1265;ExcessHet=0;FS=70.309;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.84;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,19:128:99:0|1:43914999_C_T:143,0,4257:43914999	18	0	1	0
chr19	43915003	43915003	A	G	exonic	ZNF45	.	nonsynonymous SNV	ZNF45:NM_003425:exon10:c.T433C:p.F145L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00769626429319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1384583909	6.881e-07	1.368e-06	0	1.385e-06	2.274e-05	0	0	.	.	0	2.274e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.202	0.27414	T	0.0	0.02946	B	0.001	0.04355	B	0.263507	0.15267	N	0.483859	1	0.08975	N	2.275	0.64647	M	1.01	0.41058	T	-0.84	0.22944	N	0.164	0.18376	-0.9877	0.33175	T	0.090	0.34573	T	10	0.094732106	0.16866	T	0.007696	0.20431	T	0.038	0.09825	0.402	0.43245	0.235664433957	0.23186	0.12031759696109624	0.11958	0.213602836398	0.23874	0.334945380688	0.15680	T	0.035438	0.23719	T	-0.368212	0.03685	T	-0.683822	0.06753	T	0.0350863611179524	0.02822	T	0.0770923	0.09368	T	0.05302415	0.09975	0.03890542	0.03862	0.05302415	0.09975	0.03890542	0.03862	-3.275	0.13417	T	.	.	0.333	0.68334	B	.;.;.;.	.;.;.;.	0.469238	0.08386	5.142	0.45021709716704789	0.03503	0.08434	0.14363	N	AEFBI	0.031285	0.03311	N	-1.04982718632548	0.07591	0.3531383	-1.11553569626414	0.07403	0.3599641	0.00212158374293667	0.09174	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.68	1.35	0.21078	0.579000	0.23490	.	.	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5556:0.3441:0.1003:0.0	5.295	0.15059	861	0.33516	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05263	138.94	36	chr19	43915003	.	A	G	138.94	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.102;DP=1268;ExcessHet=0.119;FS=205.172;InbreedingCoeff=-0.0444;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=1.97;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,19:125:99:0|1:43914999_C_T:152,0,4179:43914999	17	0	2	0
chr19	44793510	44793510	G	A	exonic	CBLC	.	nonsynonymous SNV	CBLC:NM_001130852:exon7:c.G1036A:p.E346K,CBLC:NM_012116:exon8:c.G1174A:p.E392K	.	412	1100	10	0	0	10	0.00452489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	.	0.0048	0.00319489	0.0044	0.0007	0.0044	0	0.0018	0.0064	0.0101	0.0015	0.0046312	716	154602	rs35457630	0.0053	0.0053	0.0054	0.0052	0.0068	0.0052	0.0052	0.0059	0.0058	0.0009	0.0062	0.0083	2.524e-05	0.0023	0.0068	0.0060	0.0054	0.0013	0.0046	0.0046	0.0045	0.0047	0.0082	0.0043	0.0042	0.0070	0.0066	0.0009	0	0.0082	0.0078	0.0002	0.0024	0.0170	0.0067	0.0090	0.0017	0.049	0.39820	D	0.047	0.49390	D	0.001	0.09854	B	0.001	0.06944	B	0.878397	0.07219	N	1.068980	0.896746	0.28227	N	0.195	0.09149	N	-3.7	0.95352	D	-3.47	0.67824	D	0.21	0.23884	-0.3526	0.73478	T	0.574	0.84621	D	10	0.009655088	0.00217	T	.	.	.	0.276	0.59253	.	.	0.63021950896	0.62719	0.31321281456451044	0.31234	0.333362944762	0.35373	0.270042479038	0.06146	T	0.755837	0.93346	D	-0.343433	0.05154	T	-0.260121	0.48813	T	0.0204095662610503	0.00741	T	0.89581	0.63671	D	0.19703072	0.41553	0.14194514	0.33786	0.19703072	0.41553	0.14194514	0.33785	-7.962	0.62955	D	.	.	0.115	0.22969	B	.;.;.	.;.;.	0.765735	0.11358	7.973	0.90011297009730784	0.19301	0.51580	0.28929	D	AEFDBI	0.114996	0.22628	N	-1.72022677813595	0.00772	0.03336787	-1.73721078692317	0.00982	0.04401287	0.964357262493984	0.28754	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.52	-5.69	0.02233	1.249000	0.32441	.	.	-2.241000	0.00340	0.884000	0.31069	0.000000	0.08366	0.328000	0.25156	0.1979:0.3979:0.4042:0.0	8.698	0.33469	612	0.66786	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.006559	0.030612	0.008152	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1004.33	34	chr19	44793510	.	G	A	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.665;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-2.481;SOR=0.655	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1018,0,1122	18	0	1	0
chr19	45155897	45155897	G	C	exonic	NKPD1	.	nonsynonymous SNV	NKPD1:NM_198478:exon3:c.C549G:p.D183E	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0101	0.00239617	0.0075	0.0023	0.0025	0	0	0.0111	0.0053	0.0061	0.0023092	357	154602	rs144764378	0.0121	0.0095	0.0123	0.0118	0.0135	0.0119	0.0118	0.0133	0.0132	0.0016	0.0071	0.0146	0	0.0008	0.0039	0.0135	0.0122	0.0056	0.0074	0.0074	0.0080	0.0068	0.0116	0.0071	0.0069	0.0109	0.0107	0.0025	0	0.0093	0.0121	0	0.0009	0	0.0116	0.0095	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3206.83	33	chr19	45155897	.	G	C	3206.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.942;DP=865;ExcessHet=0.119;FS=0.94;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.589;SOR=0.628	GT:AD:DP:GQ:PL	0/1:59,67:126:99:1666,0,1343	17	0	2	0
chr19	45408641	45408641	G	A	exonic	POLR1G	.	nonsynonymous SNV	POLR1G:NM_001297590:exon3:c.G679A:p.E227K,POLR1G:NM_012099:exon3:c.G673A:p.E225K	.	398	1116	7	1	0	9	0.00401606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0136400898117	0.0019	0.000798722	0.0013	0.0005	8.67e-05	0	0.0008	0.0017	0.0045	0.0013	0.0012807	198	154602	rs113047593	0.0020	0.0020	0.0020	0.0019	0.0023	0.0019	0.0019	0.0022	0.0022	0.0002	4.472e-05	3.826e-05	0	0.0005	0.0019	0.0023	0.0014	0.0022	0.0011	0.0011	0.0012	0.0010	0.0020	0.0010	0.0009	0.0018	0.0017	0.0004	0	0	0	0	0	0	0.0020	0.0009	0.0017	0.053	0.38863	T	0.06	0.45744	T	1.0	0.90584	D	0.985	0.76457	D	0.034747	0.24730	N	0.336436	0.783742	0.29304	N	2.72	0.79541	M	2.5	0.14408	T	-1.66	0.39692	N	0.15	0.20793	-1.0743	0.08493	T	0.079	0.31435	T	10	0.009910941	0.00222	T	0.01364	0.33196	T	0.060	0.17295	.	.	0.294206760003	0.29026	0.2180586157471834	0.21721	0.600283134816	0.55121	0.332840621471	0.15362	T	0.018136	0.14670	T	-0.507029	0.00522	T	-0.494549	0.22916	T	0.0306642108923069	0.02093	T	0.60064	0.22426	T	0.099687874	0.23530	0.1127208	0.27200	0.099687874	0.23530	0.1127208	0.27199	-6.752	0.52418	T	.	.	0.096	0.15206	B	.;.	.;.	2.027335	0.25767	16.88	0.99121188166760132	0.52985	0.17794	0.19990	N	AEFBCI	.	.	.	0.0451845354351822	0.43921	2.675719	-0.153414909380274	0.33278	1.901862	0.99981760845323	0.43459	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.33	4.33	0.51083	1.935000	0.39802	.	.	0.676000	0.76740	0.037000	0.20830	.	.	0.013000	0.09966	0.0:0.2012:0.7987:0.0	10.261	0.42604	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002075	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.011450	0.02632	1508.33	60	chr19	45408641	.	G	A	1508.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.43;DP=901;ExcessHet=0;FS=2.445;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.317;SOR=0.453	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1522,0,1546	18	0	1	0
chr19	45815687	45815687	G	A	exonic	SYMPK	.	nonsynonymous SNV	SYMPK:NM_004819:exon27:c.C3698T:p.A1233V	.	406	1114	2	0	0	2	0.000896861	.	.	.	3609119	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.00432030803583	0.0003	0.000199681	0.0002	0	0	0	0	0.0002	0	0.0008	0.0001488	23	154602	rs201620603	0.0001	0.0001	8.875e-05	0.0001	0.0007	9.011e-05	8.492e-05	0.0005	0.0004	5.996e-05	0	0	0	0.0002	0.0007	7.023e-05	9.975e-05	0.0006	0.0001	0.0001	0.0002	6.725e-05	0.0008	7.585e-05	6.288e-05	0.0003	0.0002	4.823e-05	0	0	0	0	0.0002	0	0.0001	0	0.0008	0.0	0.91255	D	0.034	0.52727	D	0.001	0.07471	B	0.001	0.04355	B	0.028601	0.25580	N	0.249318	1	0.08975	N	1.39	0.34934	L	.	.	.	-0.28	0.11547	N	0.139	0.13769	-1.0268	0.21494	T	0.062	0.25815	T	9	0.020020515	0.00455	T	0.00432	0.10498	T	0.067	0.19503	.	.	0.043077524339	0.03247	0.1899498825234363	0.18912	0.0472776428727	0.05151	0.574481606483	0.49310	T	0.056904	0.30418	T	-0.403029	0.02211	T	-0.458118	0.26804	T	0.0914371017722209	0.11387	T	0.687031	0.29593	T	0.06061688	0.12459	0.20567888	0.44748	0.06061688	0.12458	0.20567888	0.44747	-4.601	0.32184	T	.	.	0.082	0.08754	B	.	.	2.197183	0.28021	17.66	0.99850279782559825	0.92925	0.14190	0.18271	N	AEFDGBCIJ	0.125690	0.24231	N	-0.809701129558523	0.13062	0.6408804	-0.82182035520752	0.13967	0.7273893	0.999999977585756	0.74766	0.766844	0.99359	0	0.643519	0.57511	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	3.78	2.73	0.31266	0.915000	0.28260	3.264000	0.37112	0.665000	0.62972	0.002000	0.15269	0.810000	0.27029	0.002000	0.04165	0.1228:0.0:0.8772:0.0	7.359	0.25906	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	0.001517	0.000000	0.001362	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	675.33	33	chr19	45815687	.	G	A	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.609;DP=739;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.643;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,30:68:99:0|1:45815687_G_A:689,0,947:45815687	18	0	1	0
chr19	48140013	48140013	C	T	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon10:c.G841A:p.V281M,LIG1:NM_001289063:exon11:c.G952A:p.V318M,LIG1:NM_001320971:exon11:c.G955A:p.V319M,LIG1:NM_000234:exon12:c.G1045A:p.V349M,LIG1:NM_001320970:exon12:c.G1042A:p.V348M	DNA ligase I deficiency (3)	415	1099	7	1	0	9	0.00407793	.	.	.	1158606	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0022	0.00199681	0.0033	9.639e-05	0.0004	0	0.0136	0.0032	0.0077	0.0050	0.0029689	459	154602	rs3730947	0.0027	0.0027	0.0026	0.0028	0.0055	0.0026	0.0026	0.0051	0.0049	0.0002	0.0004	0.0095	0	0.0153	0.0016	0.0020	0.0028	0.0055	0.0028	0.0028	0.0021	0.0035	0.0054	0.0026	0.0025	0.0038	0.0032	0.0006	0	0.0005	0.0101	0.0002	0.0165	0	0.0022	0.0019	0.0054	0.001	0.78490	D	0.002	0.79402	D	0.994	0.66517	D	0.816	0.58888	P	0.045139	0.23568	N	0.447839	0.759073	0.34017	D	2.135	0.59519	M	2.13	0.19588	T	-2.28	0.50830	N	0.386	0.47672	-0.9917	0.32167	T	0.058	0.24502	T	10	0.014671981	0.00308	T	.	.	.	0.103	0.29403	.	.	0.440394187108	0.43661	0.5568665366148533	0.55613	0.80779589675	0.66579	0.355817586184	0.18775	T	0.225735	0.59056	T	-0.435523	0.01374	T	-0.396595	0.33782	T	0.0345920890856649	0.02739	T	0.98999	0.96889	D	0.46690133	0.65099	0.4419109	0.67459	0.46690133	0.65100	0.4419109	0.67459	-9.456	0.72857	D	.	.	0.171	0.51703	B	.;.;.;.	.;.;.;.	2.513593	0.32468	19.05	0.99762343674211051	0.85172	0.08890	0.14750	N	AEFGBI	0.031938	0.03514	N	-0.122491504024009	0.36413	2.104502	-0.276718362843338	0.28866	1.612848	4.2750514314573E-4	0.06935	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	1.55	0.22356	0.416000	0.20918	1.646000	0.27819	0.599000	0.40250	0.092000	0.22623	0.925000	0.28409	0.825000	0.38878	0.0:0.6204:0.0:0.3796	7.081	0.24408	846	0.36215	DNA ligase, ATP-dependent, N-terminal;DNA ligase, ATP-dependent, N-terminal;.;.	.	.	.	.	rs3730947	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.000000	0.004076	0.002924	0.050000	0.000000	0.012195	0.011364	0.05263	4923.83	34	chr19	48140013	.	C	T	4923.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.35;DP=1141;ExcessHet=0.119;FS=0.522;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.742;SOR=0.771	GT:AD:DP:GQ:PL	0/1:108,114:222:99:2839,0,2440	17	0	2	0
chr19	48497620	48497620	A	G	exonic	LMTK3	.	nonsynonymous SNV	LMTK3:NM_001080434:exon12:c.T3536C:p.L1179P	.	405	1097	18	0	2	20	0.00813743	.	.	.	2225035	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.210	0.0211676968616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1024366419	1.306e-05	1.163e-05	1.337e-05	1.273e-05	2.611e-05	7.84e-06	6.22e-06	8.49e-06	6.64e-06	0	0	0	0	0	0	1.463e-05	0	2.611e-05	1.979e-05	1.973e-05	1.289e-05	2.703e-05	6.557e-05	5.26e-06	2.46e-06	4.89e-06	1.83e-06	0	0	6.557e-05	0	0	0	0	2.947e-05	0	0	0.239	0.17761	T	0.341	0.17964	T	0.0	0.02946	B	0.0	0.01387	B	0.940899	0.08355	N	0.962373	0.999999	0.08975	N	-0.345	0.03330	N	-1.11	0.77593	T	-1.93	0.44852	N	0.218	0.24883	-0.9717	0.36841	T	0.189	0.54064	T	10	0.0882186	0.15168	T	0.021168	0.43897	T	0.210	0.50028	0.263	0.20788	0.257786959452	0.25393	.	.	.	.	0.75117123127	0.74618	T	0.011847	0.10509	T	-0.133429	0.30942	T	-0.429438	0.29998	T	0.0506334842787655	0.05611	T	0.278972	0.04839	T	0.055751596	0.10876	0.07257018	0.15673	0.055751596	0.10876	0.07257018	0.15672	-0.098	0.00385	T	.	.	0.047	0.00075	B	.;.;.	.;.;.	1.102595	0.14872	11.40	0.93523398648346434	0.23341	0.01247	0.04392	N	AEFDBHCI	0.015489	0.00298	N	-1.11260211936782	0.06417	0.2953656	-1.11425696350717	0.07427	0.3612287	0.999998794252687	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.645665	0.59343	0	.	.	2.89	-0.525	0.11321	0.033000	0.13642	-0.712000	0.07745	0.569000	0.28856	0.091000	0.22601	0.885000	0.27754	0.948000	0.49324	0.3684:0.0:0.6316:0.0	6.665	0.22225	958	0.09170	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003684	0.000000	0.002865	0.006061	0.000000	0.000000	0.009677	0.003968	0.02632	327.33	35	chr19	48497620	.	A	G	327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.803;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.966;SOR=0.693	GT:AD:DP:GQ:PL	0/1:14,14:28:99:341,0,402	18	0	1	0
chr19	48904402	48904402	C	T	exonic	NUCB1	.	nonsynonymous SNV	NUCB1:NM_006184:exon3:c.C191T:p.T64M	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.173723731786	0.0002	.	0.0002	0	0	0.0001	0	0.0003	0.0011	0.0001	0.0001811	28	154602	rs146255002	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	9.42e-05	0.0002	0.0001	2.988e-05	8.949e-05	7.662e-05	2.521e-05	0	0.0007	0.0001	0.0003	0.0001	0.0001	0.0001	5.154e-05	0.0002	0.0002	6.535e-05	5.342e-05	0.0001	8.885e-05	2.428e-05	0	0	0.0003	0	0	0	0.0002	0	0.0002	0.003	0.78490	D	0.024	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999989	0.54805	D	2.25	0.63811	M	2.1	0.19990	T	-2.72	0.69357	D	0.431	0.47022	-0.7485	0.58014	T	0.160	0.49514	T	10	0.36074254	0.52711	T	0.173724	0.85033	D	0.263	0.57612	.	.	0.476986058749	0.47329	0.6211508547144021	0.62048	0.991505808425	0.74086	0.763547480106	0.76458	T	0.610761	0.87661	D	-0.26909	0.11859	T	-0.313787	0.43250	T	0.392477691173553	0.28658	T	0.965703	0.88371	D	0.2524523	0.48261	0.28254652	0.54243	0.2524523	0.48261	0.28254652	0.54242	-8.727	0.65923	D	.	.	0.213	0.54883	B	.;.;.;.;.	.;.;.;.;.	5.019590	0.83409	28.0	0.99840175485325733	0.92057	0.91703	0.54084	D	AEFDBI	0.703795	0.65971	D	0.452630466404346	0.64350	4.687787	0.31622451390069	0.56492	3.812668	0.999999803983859	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	3.396000	0.52309	7.473000	0.59173	0.518000	0.23583	0.996000	0.39380	1.000000	0.68203	0.735000	0.35267	0.0:1.0:0.0:0.0	14.560	0.67724	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	760.33	40	chr19	48904402	.	C	T	760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.148;DP=726;ExcessHet=0;FS=4.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.015;SOR=0.322	GT:AD:DP:GQ:PL	0/1:43,34:77:99:774,0,1030	18	0	1	0
chr19	49462691	49462691	G	A	exonic	ALDH16A1	.	nonsynonymous SNV	ALDH16A1:NM_001145396:exon7:c.G881A:p.R294Q,ALDH16A1:NM_153329:exon8:c.G1034A:p.R345Q	.	373	1144	1	0	4	5	0.000436872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0217854203867	0.0002	.	6.886e-05	0	0.0002	0	0	9.399e-05	0	0	5.82e-05	9	154602	rs140656618	4.948e-05	4.925e-05	4.103e-05	5.801e-05	0.0002	4.011e-05	3.686e-05	5.952e-05	4.048e-05	6.044e-05	0.0001	0	5.057e-05	0	0.0002	4.594e-05	6.668e-05	6.996e-05	5.258e-05	5.254e-05	3.856e-05	6.725e-05	0.0002	2.558e-05	1.83e-05	2.262e-05	9.08e-06	4.827e-05	0	0.0001	0	0	0	0	4.411e-05	0	0.0002	0.043	0.41364	D	0.038	0.52389	D	0.694	0.41805	P	0.117	0.32014	B	0.089564	0.20420	N	0.461469	1	0.08975	N	-1.1	0.00987	N	-0.98	0.75789	T	-0.12	0.08809	N	0.41	0.45047	-0.9433	0.42089	T	0.167	0.50648	T	10	0.18071651	0.33268	T	0.021785	0.44605	T	0.262	0.57482	.	.	0.685496779553	0.68280	0.4354324392636099	0.43460	0.344355146686	0.36367	0.545769095421	0.45260	T	0.038303	0.37286	T	-0.0192578	0.48959	T	-0.265439	0.48280	T	0.0222091632223985	0.00933	T	0.909809	0.68064	D	0.033604126	0.03612	0.041848596	0.04850	0.033604126	0.03611	0.041848596	0.04849	-3.4	0.15057	T	.	.	0.088	0.22245	B	.;.;.	.;.;.	2.612781	0.33937	19.49	0.99866009504940845	0.94366	0.39449	0.26215	N	AEFDCI	0.132262	0.25151	N	-0.250086547100643	0.31101	1.740517	-0.127674469164704	0.34279	1.97003	0.920466494454848	0.26633	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.03	1.58	0.22557	0.496000	0.22207	4.073000	0.41680	0.614000	0.49286	0.011000	0.18532	0.999000	0.35428	0.762000	0.36218	0.0998:0.1755:0.5436:0.1811	2.965	0.05542	799	0.44747	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase 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	.	.	.	.	.	.	.	.	0.02632	1372.33	35	chr19	49462691	.	G	A	1372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=1023;ExcessHet=0;FS=0.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.655;SOR=0.585	GT:AD:DP:GQ:PL	0/1:59,55:114:99:1386,0,1405	18	0	1	0
chr19	49635620	49635620	C	T	exonic	RRAS	.	nonsynonymous SNV	RRAS:NM_006270:exon6:c.G613A:p.A205T	.	.	.	.	.	.	.	.	.	.	.	2372597	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.065	0.0169455082734	7.7e-05	.	9.036e-05	0	0	0	0	6.251e-05	0	0.0007	8.41e-05	13	154602	rs373517601	3.587e-05	4.378e-05	2.896e-05	4.312e-05	0.0005	2.75e-05	2.459e-05	0.0004	0.0003	0	0	0	0	0	0	1.576e-05	1.935e-05	0.0005	1.982e-05	1.972e-05	1.291e-05	2.707e-05	0.0006	5.27e-06	2.46e-06	0.0002	9.107e-05	0	0	0	0	0	0	0	0	0	0.0006	0.466	0.08584	T	0.521	0.10429	T	0.039	0.21116	B	0.007	0.12992	B	0.346663	0.13880	N	0.632698	0.966891	0.25873	N	-0.47	0.02713	N	-0.44	0.69777	T	0.28	0.04233	N	0.045	0.01740	-1.0418	0.16770	T	0.098	0.36651	T	10	0.022734731	0.00576	T	0.016946	0.38442	T	0.065	0.18881	.	.	0.680807706874	0.67809	0.34136788731922657	0.34049	0.432433378056	0.43418	0.520510554314	0.41698	T	0.251274	0.62150	T	-0.409059	0.02017	T	-0.455448	0.27096	T	0.0424865310386838	0.04143	T	0.284972	0.05045	T	0.05163071	0.09509	0.04838413	0.07176	0.05163071	0.09509	0.04838413	0.07175	-3.53	0.16854	T	.	.	0.066	0.02118	B	.	.	1.792284	0.22787	15.76	0.99414927099988415	0.63453	0.11714	0.16814	N	AEFDGBHCI	0.061292	0.11706	N	-0.577977130389572	0.19615	1.02795	-0.398634973953019	0.25037	1.374575	0.999826337065074	0.43622	0.645754	0.44609	0	0.694456	0.67091	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	4.89	3.81	0.43020	0.149000	0.16062	-0.057000	0.12472	0.594000	0.32500	0.020000	0.19661	0.000000	0.08366	0.861000	0.40843	0.0:0.693:0.2043:0.1027	6.198	0.19773	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	680.33	37	chr19	49635620	.	C	T	680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.676;DP=697;ExcessHet=0;FS=2.269;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.367;SOR=1.104	GT:AD:DP:GQ:PL	0/1:35,28:63:99:694,0,1021	18	0	1	0
chr19	50666540	50666540	G	A	exonic	SHANK1	.	nonsynonymous SNV	SHANK1:NM_016148:exon23:c.C5420T:p.P1807L	.	409	1097	15	1	0	17	0.00768883	.	.	.	729832	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.0828293383435	.	0.00139776	0.0036	0.0006	0.0062	0	0.0006	0.0052	0.0029	0.0010	0.0019017	294	154602	rs184259943	0.0024	0.0024	0.0024	0.0024	0.0107	0.0023	0.0023	0.0085	0.0077	0.0007	0.0031	0.0061	0	0.0005	0.0107	0.0025	0.0037	0.0010	0.0023	0.0023	0.0023	0.0024	0.0042	0.0021	0.0021	0.0034	0.0031	0.0003	0	0.0042	0.0061	0	0.0004	0.0374	0.0034	0.0038	0.0002	0.043	0.48186	D	0.179	0.45530	T	0.048	0.22112	B	0.025	0.20508	B	0.967967	0.07760	U	1.021450	1	0.08975	N	0	0.06538	N	1.76	0.37230	T	-1.78	0.42001	N	0.111	0.09772	-0.9954	0.31191	T	0.060	0.24981	T	10	0.0060329437	0.00135	T	0.082829	0.73985	D	0.027	0.05988	.	.	0.110392049598	0.10638	0.1295931873921332	0.12884	0.689654936946	0.60494	0.808962166309	0.83333	D	0.057085	0.30467	T	-0.610511	0.00126	T	-0.653098	0.08739	T	0.00458498317523324	0.00049	T	0.818618	0.47714	T	0.066591606	0.14343	0.087204926	0.20255	0.066591606	0.14343	0.087204926	0.20254	-4.549	0.31652	T	.	.	0.105	0.19235	B	.;.;.;.	.;.;.;.	2.577703	0.33415	19.33	0.9346749744651941	0.23258	0.11106	0.16411	N	AEFDBI	0.088616	0.17964	N	-0.719186940304289	0.15483	0.7806701	-0.7729775213659	0.15159	0.7958415	0.204906714060539	0.18169	0.582742	0.33608	0	0.547309	0.14657	0	0.606884	0.38211	0	0.620976	0.48614	0	.	.	2.35	1.12	0.19700	0.290000	0.18731	6.601000	0.56056	0.576000	0.29215	0.000000	0.06391	1.000000	0.68203	0.070000	0.16646	0.0:0.0:0.7494:0.2506	7.609	0.27286	873	0.30802	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017224	0.026042	0.035326	0.002941	0.000000	0.017544	0.003106	0.000000	0.02632	909.33	36	chr19	50666540	.	G	A	909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=736;ExcessHet=0;FS=3.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.269;SOR=1.159	GT:AD:DP:GQ:PL	0/1:31,34:65:99:923,0,752	18	0	1	0
chr19	51078155	51078155	T	C	exonic	KLK14	.	nonsynonymous SNV	KLK14:NM_001369775:exon6:c.A608G:p.D203G,KLK14:NM_001311182:exon7:c.A608G:p.D203G,KLK14:NM_022046:exon7:c.A608G:p.D203G	.	407	1065	47	3	0	53	0.0242785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.921	.	0.0019	0.00499201	0.0052	0.0009	0.0024	0.0001	0	0.0028	0.0048	0.0242	0.0046959	726	154602	rs201296079	0.0036	0.0036	0.0030	0.0042	0.0225	0.0035	0.0035	0.0217	0.0213	0.0003	0.0014	0.0029	7.557e-05	5.641e-05	0.0090	0.0026	0.0043	0.0225	0.0025	0.0025	0.0024	0.0026	0.0221	0.0023	0.0022	0.0187	0.0174	0.0006	0	0.0012	0.0026	0.0002	0	0	0.0033	0.0005	0.0221	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.994746	0.42399	D	4.5	0.98977	H	-3.72	0.95422	D	-6.24	0.90530	D	0.922	0.92550	1.089	0.99191	D	0.952	0.98439	D	9	0.016272247	0.00343	T	.	.	.	0.921	0.98003	.	.	0.94369331356	0.94310	0.8747409702845038	0.87440	0.725959603611	0.62485	0.735657215118	0.72334	T	0.606604	0.87470	D	0.212188	0.75036	D	0.55027	0.95621	D	0.168831927379693	0.18500	T	0.987126	0.95588	D	0.8242775	0.85510	0.7970734	0.88086	0.8242775	0.85511	0.7970734	0.88087	-14.049	0.93214	D	.	.	0.993	0.94731	P	.;.;.	.;.;.	5.454865	0.91095	32	0.99851691840177914	0.93102	0.95671	0.65664	D	AEFDBI	0.897766	0.84031	D	0.931104314004093	0.93199	11.88361	0.80118972965698	0.89877	10.15895	0.99954531563023	0.40300	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.64	4.64	0.57399	7.698000	0.83519	.	.	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	12.032	0.52696	958	0.09170	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.002717	0.011696	0.000000	0.008621	0.018293	0.007576	0.02632	906.33	37	chr19	51078155	.	T	C	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.629;DP=780;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-0.479;SOR=0.607	GT:AD:DP:GQ:PL	0/1:54,39:93:99:920,0,1474	18	0	1	0
chr19	51416046	51416046	G	T	exonic	SIGLEC10	.	nonsynonymous SNV	SIGLEC10:NM_001171156:exon5:c.C702A:p.N234K,SIGLEC10:NM_001171157:exon5:c.C876A:p.N292K,SIGLEC10:NM_001171158:exon5:c.C732A:p.N244K,SIGLEC10:NM_001171159:exon5:c.C702A:p.N234K,SIGLEC10:NM_033130:exon5:c.C876A:p.N292K	.	398	1122	2	0	0	2	0.000890472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00864683560462	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1430669977	2.738e-06	2.736e-06	1.362e-06	4.128e-06	4.64e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.64e-05	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.059	0.40832	T	0.331	0.42976	T	0.082	0.27649	B	0.062	0.27321	B	0.102128	0.19807	N	0.427133	1	0.08975	N	1.24	0.30952	L	1.52	0.44065	T	-1.83	0.46842	N	0.165	0.19728	-1.0164	0.24884	T	0.086	0.33382	T	10	0.18926847	0.34519	T	0.008647	0.22854	T	0.033	0.08068	0.72	0.85496	0.159798565429	0.15598	0.17178904163322486	0.17098	.	.	0.39986038208	0.25048	T	0.093622	0.39250	T	-0.271553	0.11585	T	-0.527213	0.19565	T	0.0568054122904172	0.06656	T	0.270573	0.04555	T	0.14321904	0.32925	0.121260315	0.29258	0.14321904	0.32925	0.121260315	0.29258	-6.542	0.52507	T	.	.	0.340	0.56952	B	.;.;.;.;.;.	.;.;.;.;.;.	1.776950	0.22594	15.68	0.75838327562455143	0.11231	0.05332	0.11185	N	AEFDBI	0.176578	0.30379	N	-1.01045476292951	0.08386	0.3930186	-1.07271472587715	0.08240	0.404295	0.792089730360016	0.24032	0.615465	0.37627	0	0.633656	0.55848	0	0.667716	0.60424	0	0.564101	0.26826	0	.	.	4.37	0.887	0.18335	1.363000	0.33763	.	.	-0.161000	0.11593	0.004000	0.16614	0.396000	0.24688	0.060000	0.15972	0.3069:0.0:0.6931:0.0	7.013	0.24054	976	0.04745	.;.;.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	851.33	36	chr19	51416046	.	G	T	851.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=1399;ExcessHet=0;FS=1.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.03;MQRankSum=2.36;QD=7.4;ReadPosRankSum=0.48;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,39:115:99:1|0:51415986_C_T:865,0,2097:51415986	18	0	1	0
chr19	51501505	51501505	C	T	exonic	SIGLEC12	.	nonsynonymous SNV	SIGLEC12:NM_053003:exon1:c.G229A:p.A77T	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0003	0.0199681	0.0080	0.0004	0.0006	0.1063	0	0.0002	0.0022	0.0018	0.0073738	1140	154602	rs74354979	0.0026	0.0026	0.0026	0.0027	0.0804	0.0025	0.0025	0.0781	0.0771	0.0003	0.0004	0	0.0804	3.744e-05	0.0010	0.0001	0.0037	0.0025	0.0038	0.0038	0.0032	0.0045	0.0993	0.0036	0.0035	0.0921	0.0893	0.0004	0	0.0005	0	0.0993	0	0	0.0002	0.0010	0.0050	0.027	0.46513	D	0.0	0.92824	D	0.479	0.36725	P	0.038	0.23361	B	.	.	.	.	0.999814	0.20249	N	3.285	0.90273	M	1.89	0.23688	T	-1.01	0.26639	N	0.21	0.23380	-1.0748	0.08390	T	0.001	0.00467	T	9	0.0020873249	0.00030	T	.	.	.	0.137	0.36984	.	.	0.176091768786	0.17195	0.1465111097958243	0.14573	0.249284379594	0.27503	0.503629684448	0.39333	T	0.002922	0.02319	T	-0.58456	0.00181	T	-0.51574	0.20728	T	0.0805273100026417	0.10054	T	0.837116	0.50934	T	0.12478121	0.29268	0.13557287	0.32457	0.12478121	0.29267	0.13557287	0.32456	-7.412	0.56989	T	.	.	0.384	0.58686	A	.	.	2.374540	0.30473	18.45	0.99779872871661157	0.86693	0.30118	0.23999	N	AEFBI	0.055839	0.10275	N	-0.294455986733181	0.29361	1.627585	-0.4375893642286	0.23902	1.306012	0.941282287843291	0.27470	0.487112	0.14033	0	0.541556	0.11502	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.28	1.19	0.20120	0.966000	0.28929	.	.	0.513000	0.23382	1.000000	0.71638	0.992000	0.31684	0.510000	0.29244	0.0:0.8014:0.0:0.1986	4.753	0.12444	907	0.22727	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2160.33	34	chr19	51501505	.	C	T	2160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.446;DP=3589;ExcessHet=0;FS=3.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=1.13;SOR=0.602	GT:AD:DP:GQ:PL	0/1:126,86:212:99:2174,0,3478	18	0	1	0
chr19	51713887	51713887	C	T	exonic	HAS1	.	nonsynonymous SNV	HAS1:NM_001297436:exon5:c.G1274A:p.G425D,HAS1:NM_001523:exon5:c.G1277A:p.G426D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.39281203789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.376e-06	2.052e-06	0	2.764e-06	8.995e-07	2.3e-07	9e-08	.	.	0	0	0	0	2.181e-05	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.67890	D	0.982	0.60036	D	0.852	0.60758	P	0.000000	0.84330	U	0.000000	0.99995	0.52396	D	2.06	0.56677	M	0.25	0.59449	T	-4.14	0.75220	D	0.913	0.91736	-0.4541	0.70264	T	0.287	0.65928	T	10	0.8995303	0.89312	D	0.392812	0.93226	D	0.428	0.73517	0.724	0.85850	0.627901115463	0.62486	0.62938645662277	0.62872	0.366918505848	0.38257	0.939267992973	0.99428	D	0.684976	0.90787	D	0.137258	0.68063	D	-0.0406145	0.67660	D	0.988392531871796	0.78730	D	0.762924	0.38892	T	0.65957034	0.75876	0.73169345	0.84145	0.65957034	0.75877	0.73169345	0.84146	-2.453	0.05468	T	.	.	0.336	0.58993	B	.;.;.	.;.;.	5.028846	0.83620	28.1	0.9974758192766866	0.84002	0.94773	0.62280	D	AEFDBHCI	0.715504	0.66764	D	0.35380305234336	0.58940	4.069579	0.258503214243818	0.53133	3.48393	0.999999854184145	0.74766	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.19	3.19	0.35720	7.688000	0.83438	.	.	0.513000	0.23382	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	12.275	0.54051	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1384.33	38	chr19	51713887	.	C	T	1384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.781;DP=854;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.548;SOR=0.62	GT:AD:DP:GQ:PL	0/1:76,53:129:99:1398,0,2150	18	0	1	0
chr19	52384793	52384793	G	A	exonic	ZNF880	.	nonsynonymous SNV	ZNF880:NM_001145434:exon4:c.G1213A:p.E405K	.	361	1160	1	0	0	1	0.000430849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00409204635013	.	0.000199681	0.0001	0	0	0	0	4.816e-05	0	0.0007	9.06e-05	14	154602	rs578235914	4.18e-05	4.379e-05	3.273e-05	5.097e-05	0.0005	3.316e-05	3.006e-05	0.0004	0.0003	0	4.485e-05	0	0	0	0.0002	1.261e-05	4.977e-05	0.0005	3.291e-05	3.939e-05	2.575e-05	4.04e-05	0.0006	1.263e-05	7.99e-06	0.0002	9.067e-05	0	0	0	0	0	0	0	1.472e-05	0.0005	0.0006	0.007	0.59928	D	0.003	0.76473	D	1.0	0.90584	D	0.98	0.74843	D	.	.	.	.	0.98923	0.24320	N	0.555	0.15161	N	1.86	0.24285	T	-3.55	0.68764	D	0.153	0.15749	-1.0720	0.08979	T	0.095	0.35924	T	8	0.079221845	0.12718	T	0.004092	0.09775	T	0.132	0.35948	0.52	0.62217	0.170165803431	0.16609	0.020705590348686173	0.02023	0.209180828777	0.23389	0.348698347807	0.17731	T	0.037734	0.24586	T	-0.431473	0.01452	T	-0.500074	0.22340	T	0.525570392608643	0.33570	D	0.540346	0.18307	T	0.22982246	0.45726	0.19402824	0.43004	0.22982246	0.45726	0.19402824	0.43003	-7.006	0.54077	T	.	.	0.243	0.47719	B	.	.	2.488735	0.32106	18.94	0.99803070115193804	0.88728	0.70421	0.34583	D	AEFBCI	0.213959	0.33948	N	-0.00961297138628488	0.41418	2.477131	-0.195816859079988	0.31689	1.795814	0.015829002922556	0.12759	0.615465	0.37627	0	0.633656	0.55848	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.84	1.84	0.24348	2.382000	0.43999	.	.	0.552000	0.28158	0.780000	0.29473	0.000000	0.08366	0.080000	0.17246	0.0:0.269:0.731:0.0	7.561	0.27020	988	0.01987	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	.	.	.	.	.	.	.	.	0.02632	2219.33	137	chr19	52384793	.	G	A	2219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=1591;ExcessHet=0;FS=1.369;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=0.577;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,60:133:99:0|1:52384793_G_A:2233,0,2876:52384793	18	0	1	0
chr19	53408232	53408232	G	T	exonic	ZNF765	.	nonsynonymous SNV	ZNF765:NM_001350495:exon3:c.G518T:p.C173F,ZNF765:NM_001040185:exon4:c.G677T:p.C226F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00110723458126	.	.	4.135e-05	0	0	0	0	4.498e-05	0	0.0001	3.88e-05	6	154602	rs772355981	3.694e-05	3.694e-05	3.403e-05	3.988e-05	0.0007	2.894e-05	2.592e-05	0.0002	0.0001	2.987e-05	4.472e-05	0	0	0	0.0007	3.867e-05	3.311e-05	2.319e-05	1.314e-05	1.313e-05	2.569e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.693	0.04264	T	0.699	0.05747	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.49	0.14531	T	-3.31	0.65972	D	0.109	0.09490	-0.9646	0.38290	T	0.023	0.09741	T	8	0.04675454	0.03906	T	0.001107	0.01336	T	0.018	0.03083	0.314	0.28935	0.0482279557977	0.04254	0.012173580694530005	0.01176	0.0616128790584	0.06866	.	.	.	0.015128	0.12745	T	-0.480759	0.00732	T	-0.746825	0.03610	T	0.0263403320982392	0.01452	T	0.00828806	0.00038	T	0.073580824	0.16453	0.13492694	0.32318	0.073580824	0.16453	0.13492694	0.32318	-7.739	0.59278	D	.	.	0.122	0.25364	B	.	.	-1.666477	0.00209	0.003	0.25583987898297389	0.01186	0.00768	0.03170	N	AEFBI	.	.	.	-1.56366008572876	0.01456	0.06355307	-1.69737765555772	0.01149	0.05168351	2.74146924499937E-4	0.06300	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	0.439	-0.879	0.10076	-2.038000	0.01506	.	.	-1.855000	0.00567	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3986:0.0:0.6014:0.0	4.466	0.11107	994	0.00715	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	0.001514	0.000000	0.004076	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	5062.33	122	chr19	53408232	.	G	T	5062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.409;DP=2454;ExcessHet=0;FS=1.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-0.499;SOR=0.623	GT:AD:DP:GQ:PL	0/1:171,189:360:99:5076,0,4630	18	0	1	0
chr19	54191847	54191847	A	C	exonic	TSEN34	.	nonsynonymous SNV	TSEN34:NM_001077446:exon2:c.A370C:p.K124Q,TSEN34:NM_001282332:exon3:c.A370C:p.K124Q,TSEN34:NM_001282333:exon3:c.A379C:p.K127Q,TSEN34:NM_024075:exon3:c.A370C:p.K124Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0275816006795	.	.	8.322e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs776731071	2.052e-06	2.052e-06	0	4.125e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.37966	T	0.28	0.32891	T	0.022	0.18677	B	0.006	0.12133	B	0.034756	0.24730	N	0.455087	0.821981	0.34790	D	1.225	0.30651	L	-0.17	0.65931	T	-1.23	0.33197	N	0.347	0.39254	-0.8881	0.49097	T	0.133	0.44524	T	10	0.09420845	0.16733	T	0.027582	0.50373	D	0.042	0.11227	0.219	0.14078	0.578975642517	0.57568	0.28151939844375745	0.28064	0.32683426685	0.34824	0.468437701464	0.34465	T	0.027885	0.20322	T	-0.13454	0.30765	T	-0.431034	0.29817	T	0.308621651455327	0.25357	T	.	.	.	0.14157192	0.32615	0.13958801	0.33300	0.14157192	0.32615	0.13958801	0.33299	-6.504	0.50317	T	.	.	0.113	0.23640	B	.;.;.;.;.;.	.;.;.;.;.;.	3.275778	0.44858	22.0	0.97263434744095545	0.33102	0.58216	0.30582	D	AEFDGBCIJ	0.362890	0.45198	N	-0.302863199381911	0.29039	1.606859	-0.1361173038422	0.33947	1.947308	0.999999750367955	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.52208	0.10781	0	0.657601	0.63696	0	.	.	4.15	4.15	0.47978	2.562000	0.45576	.	.	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	11.016	0.46905	994	0.00715	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3083.33	35	chr19	54191847	.	A	C	3083.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.48;DP=894;ExcessHet=0;FS=4.645;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.57;SOR=0.463	GT:AD:DP:GQ:PL	0/1:112,109:221:99:3097,0,2932	18	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	14224.2	453	chr19	54739533	.	C	A	14224.2	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-1.789;DP=6357;ExcessHet=8.9063;FS=2.315;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=54.78;MQRankSum=1.23;QD=2.68;ReadPosRankSum=1.17;SOR=0.487	GT:AD:DP:GQ:PL	0/1:390,107:497:99:1675,0,11648	8	0	11	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.3158	19383.8	304	chr19	54752378	.	A	T	19383.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-4.229;DP=4495;ExcessHet=0.145;FS=0;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=54.4;MQRankSum=-17.09;QD=8.05;ReadPosRankSum=0.964;SOR=0.712	GT:AD:DP:GQ:PL	0/1:250,122:372:99:2447,0,7346	10	3	6	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	23283.8	396	chr19	54752434	.	G	C	23283.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-2.516;DP=4967;ExcessHet=0.145;FS=7.788;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.43;MQRankSum=-19.66;QD=8.2;ReadPosRankSum=2.5;SOR=0.941	GT:AD:DP:GQ:PL	0/1:315,122:437:99:3176,0,8864	10	3	6	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	30704.8	410	chr19	54752445	.	C	T	30704.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.489;DP=4987;ExcessHet=0.145;FS=10.496;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.62;MQRankSum=-20.04;QD=10.61;ReadPosRankSum=0.499;SOR=1.215	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:323,122:445:99:0|1:54752445_C_T:4130,0,13035:54752445	10	3	6	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	18559.8	408	chr19	54752485	.	T	C	18559.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.51;DP=3383;ExcessHet=0.145;FS=30.574;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=56;MQRankSum=-19.62;QD=6.83;ReadPosRankSum=-2.781;SOR=2.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,77:421:99:0|1:54752482_T_C:2198,0,14145:54752482	10	3	6	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	9081.15	373	chr19	54752511	.	G	A	9081.15	.	AC=11;AF=0.289;AN=38;BaseQRankSum=6.55;DP=3015;ExcessHet=0.0524;FS=46.673;InbreedingCoeff=0.3603;MLEAC=11;MLEAF=0.289;MQ=57.02;MQRankSum=-18.05;QD=4.49;ReadPosRankSum=-0.35;SOR=4.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:303,50:353:99:0|1:54752511_G_A:1187,0,12545:54752511	11	3	5	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	5632.82	409	chr19	54760643	.	A	G	5632.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.964;DP=3070;ExcessHet=5.3738;FS=0.841;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.21;MQRankSum=-7.788;QD=2.22;ReadPosRankSum=-1.6;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:315,47:362:99:0|1:54760643_A_G:1025,0,12936:54760643	10	0	9	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	6909.82	427	chr19	54760651	.	G	C	6909.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.367;DP=3110;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.71;MQRankSum=-7.967;QD=2.66;ReadPosRankSum=-0.854;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,51:373:99:0|1:54760643_A_G:1172,0,13348:54760643	10	0	9	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8391.82	417	chr19	54760665	.	T	C	8391.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.929;DP=3064;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=54.49;MQRankSum=-8.924;QD=3.29;ReadPosRankSum=1.29;SOR=0.63	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,59:368:99:0|1:54760643_A_G:1547,0,12797:54760643	10	0	9	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8694.82	404	chr19	54760676	.	T	A	8694.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.677;DP=2989;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.24;MQRankSum=-9.527;QD=3.5;ReadPosRankSum=2.82;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:293,61:354:99:0|1:54760643_A_G:1679,0,12119:54760643	10	0	9	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9144.82	392	chr19	54760692	.	A	G	9144.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.194;DP=2791;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.94;MQRankSum=-10.82;QD=3.87;ReadPosRankSum=3.07;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:270,61:331:99:0|1:54760643_A_G:1749,0,11154:54760643	10	0	9	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9240.82	386	chr19	54760695	.	T	C	9240.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.033;DP=2772;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.99;MQRankSum=-11.04;QD=3.96;ReadPosRankSum=3.13;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,61:326:99:0|1:54760643_A_G:1764,0,10944:54760643	10	0	9	0
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H,KIR2DL1:NM_014218:exon3:c.G202C:p.D68H,KIR2DS1:NM_014512:exon3:c.G202C:p.D68H,KIR2DS5:NM_014513:exon3:c.G202C:p.D68H	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	11554.4	606	chr19	54773464	.	G	C	11554.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.09;DP=5593;ExcessHet=1.3;FS=3.783;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=57.56;MQRankSum=-17.89;QD=3.48;ReadPosRankSum=-1.139;SOR=1.211	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:592,74:666:99:.:.:1124,0,24023:.	14	0	5	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G,KIR2DL1:NM_014218:exon3:c.C248G:p.A83G,KIR2DS1:NM_014512:exon3:c.C248G:p.A83G,KIR2DS5:NM_014513:exon3:c.C248G:p.A83G	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	19496.4	634	chr19	54773510	.	C	G	19496.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.64;DP=6108;ExcessHet=1.3;FS=2.296;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=57.51;MQRankSum=-21.25;QD=5.16;ReadPosRankSum=3.43;SOR=0.964	GT:AD:DP:GQ:PL	0/1:669,88:757:99:1551,0,21302	14	0	5	0
chr19	54773564	54773564	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.A302G:p.Y101C,KIR2DL1:NM_014218:exon3:c.A302G:p.Y101C,KIR2DS1:NM_014512:exon3:c.A302G:p.Y101C,KIR2DS5:NM_014513:exon3:c.A302G:p.Y101C	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.000863671339628	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325687149	4.745e-05	5.323e-05	5.417e-05	4.067e-05	0.0002	3.803e-05	3.48e-05	3.887e-05	3.482e-05	0	6.809e-05	0.0002	0	0	0.0002	4.963e-05	0.0001	0	6.052e-05	6.652e-05	7.882e-05	4.134e-05	7.545e-05	3.142e-05	2.357e-05	2.903e-05	1.899e-05	0	0	0	0.0012	0	0	0	7.545e-05	0	0	0.0	0.91255	D	0.107	0.37730	T	0.996	0.68779	D	0.93	0.66466	D	.	.	.	.	1	0.08975	N	.	.	.	2.07	0.20387	T	-6.06	0.90060	D	0.284	0.32148	-1.0114	0.26478	T	0.130	0.43968	T	9	0.3169551	0.49111	T	8.64E-4	0.00755	T	0.071	0.20720	0.612	0.74535	0.527045900269	0.52351	0.07904860219455756	0.07839	1.18328293577	0.80071	0.537164568901	0.44045	T	0.039973	0.25372	T	-0.140201	0.29857	T	-0.439165	0.28903	T	0.715964019298553	0.41495	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.48715	B	.;.	.;.	1.642754	0.20964	14.99	0.98088105165213713	0.38165	0.00854	0.03405	N	AEFBI	0.071146	0.14151	N	-0.280230349582137	0.29911	1.663065	-0.646879855518034	0.18295	0.9767228	1.1568211258588E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.052	0.13615	-0.577000	0.05940	.	.	-1.153000	0.01422	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.629:0.0:0.0:0.371	3.265	0.06457	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5193.33	390	chr19	54773564	.	A	G	5193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.62;DP=5675;ExcessHet=0;FS=0.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.13;MQRankSum=2.54;QD=6.62;ReadPosRankSum=0.104;SOR=0.625	GT:AD:DP:GQ:PL	0/1:547,238:785:99:5207,0,15753	18	0	1	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E,KIR2DL1:NM_014218:exon4:c.A631G:p.K211E,KIR2DS1:NM_014512:exon4:c.A631G:p.K211E,KIR2DS5:NM_014513:exon4:c.A631G:p.K211E	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.000592734597817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160831907	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.554	0.09298	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	5.87	0.00635	T	1.39	0.00857	N	0.07	0.05037	-0.8467	0.52195	T	0.002	0.00615	T	9	0.028063536	0.00943	T	5.93E-4	0.00260	T	0.059	0.16972	0.323	0.30387	0.16115917748	0.15686	0.029241745084215797	0.02873	2.21200435668	0.95776	0.31968459487	0.13373	T	4.12E-4	0.00135	T	-0.28523	0.10121	T	-0.647489	0.09131	T	0.0937598886220576	0.11657	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.11414	B	.;.	.;.	0.318454	0.06933	3.475	0.20862290473268763	0.00769	0.00019	0.00214	N	AEFBI	0.018778	0.00597	N	-2.32359019538145	0.00040	0.001725136	-2.43884286613337	0.00032	0.001406827	0.936798265882266	0.27269	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.210000	0.09349	.	.	-1.332000	0.01214	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.1649:0.2413:0.4377:0.1561	2.064	0.03380	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1842	1122.37	409	chr19	54775425	.	A	G	1122.37	.	AC=7;AF=0.184;AN=38;BaseQRankSum=2.74;DP=4083;ExcessHet=2.9153;FS=2.32;InbreedingCoeff=-0.2257;MLEAC=7;MLEAF=0.184;MQ=56.45;MQRankSum=-10.79;QD=0.37;ReadPosRankSum=1.18;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:541,46:587:99:0|1:54775415_C_T:303,0,22578:54775415	12	0	7	0
chr19	54775427	54775427	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G633C:p.K211N,KIR2DL1:NM_014218:exon4:c.G633C:p.K211N,KIR2DS1:NM_014512:exon4:c.G633C:p.K211N,KIR2DS5:NM_014513:exon4:c.G633C:p.K211N	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.001147116708	.	.	8.585e-06	0.0001	0	0	0	0	0	0	.	.	.	rs753170536	2.16e-05	0.0002	1.941e-05	2.38e-05	4.687e-05	1.548e-05	1.349e-05	1.594e-05	1.051e-05	3.01e-05	4.543e-05	0	0	1.904e-05	0	1.927e-05	3.37e-05	4.687e-05	3.365e-05	0.0001	5.26e-05	1.378e-05	9.802e-05	1.284e-05	8.15e-06	3.284e-05	1.938e-05	9.802e-05	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	1.38	0.00857	N	0.059	0.04426	-0.9366	0.43149	T	0.001	0.00378	T	9	0.023357421	0.00609	T	0.001147	0.01434	T	0.014	0.01968	0.35	0.34760	0.12205267543	0.11705	0.03264276369458457	0.03212	1.93871876743	0.93220	0.327257335186	0.14520	T	0.001399	0.00865	T	-0.474619	0.00796	T	-0.734262	0.04137	T	0.0274483388068723	0.01609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.08754	B	.;.	.;.	0.327897	0.07020	3.580	0.21825878329223575	0.00850	0.00013	0.00170	N	AEFBI	0.013717	0.00192	N	-1.7759001691404	0.00606	0.0261499	-1.79421127190689	0.00778	0.03469607	1.85822177357133E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-6.75E-4	0.13359	-0.508000	0.06426	.	.	-1.225000	0.01333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4246:0.3291:0.2463	2.428	0.04193	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1842	1442.34	413	chr19	54775427	.	G	C	1442.34	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.12;DP=4083;ExcessHet=2.9153;FS=3.718;InbreedingCoeff=-0.225;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-10.89;QD=0.48;ReadPosRankSum=1.32;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:540,50:590:99:0|1:54775415_C_T:474,0,22483:54775415	12	0	7	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P,KIR2DL1:NM_014218:exon4:c.T634C:p.S212P,KIR2DS1:NM_014512:exon4:c.T634C:p.S212P,KIR2DS5:NM_014513:exon4:c.T634C:p.S212P	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1842	1708.36	412	chr19	54775428	.	T	C	1708.36	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.35;DP=4107;ExcessHet=2.9153;FS=3.727;InbreedingCoeff=-0.2254;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-11;QD=0.57;ReadPosRankSum=0.807;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:543,52:595:99:0|1:54775415_C_T:521,0,22504:54775415	12	0	7	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L,KIR2DL4:NM_001080772:exon3:c.G149T:p.R50L	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.07895	309.6	34	chr19	54804865	.	G	T	309.6	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.98;DP=1250;ExcessHet=0.3672;FS=13.344;InbreedingCoeff=-0.0755;MLEAC=2;MLEAF=0.053;MQ=58.93;MQRankSum=-13.59;QD=0.46;ReadPosRankSum=1.96;SOR=2.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,16:237:7:0|1:54804865_G_T:7,0,9202:54804865	16	0	3	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E,KIR2DL4:NM_001080772:exon3:c.A193G:p.K65E	.	408	993	118	3	0	124	0.0587678	.	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07895	831.79	34	chr19	54804909	.	A	G	831.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.545;DP=1959;ExcessHet=0.3672;FS=14.196;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=58.65;MQRankSum=-15.14;QD=1.03;ReadPosRankSum=1.57;SOR=2.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,21:285:87:0|1:54804898_C_G:87,0,10954:54804898	16	0	3	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K,KIR2DL4:NM_001080772:exon3:c.G227A:p.R76K	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1053	2377.43	34	chr19	54804943	.	G	A	2377.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.26;DP=2260;ExcessHet=0.7564;FS=9.528;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=58.51;MQRankSum=-15.36;QD=2.1;ReadPosRankSum=-3.066;SOR=1.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:273,26:299:99:.:.:272,0,8059:.	15	0	4	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K,KIR2DL4:NM_001080772:exon3:c.C240G:p.N80K	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3425.37	319	chr19	54804956	.	C	G	3425.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.46;DP=2582;ExcessHet=1.3;FS=7.603;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.55;MQRankSum=-16.01;QD=2.3;ReadPosRankSum=-3.043;SOR=1.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,35:318:99:0|1:54804956_C_G:618,0,11741:54804956	14	0	5	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I,KIR2DL4:NM_001080772:exon3:c.T244A:p.F82I	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3409.37	321	chr19	54804960	.	T	A	3409.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.144;DP=2585;ExcessHet=1.3;FS=7.609;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.63;MQRankSum=-15.69;QD=2.27;ReadPosRankSum=-2.733;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:286,35:321:99:0|1:54804956_C_G:609,0,11881:54804956	14	0	5	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M,KIR2DL4:NM_001080772:exon3:c.T252G:p.I84M	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3713.37	308	chr19	54804968	.	T	G	3713.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.33;DP=2589;ExcessHet=1.3;FS=5.728;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.6;MQRankSum=-15.19;QD=2.47;ReadPosRankSum=-2.044;SOR=1.403	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,39:335:99:0|1:54804956_C_G:726,0,12274:54804956	14	0	5	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G,KIR2DL4:NM_001080772:exon3:c.A253G:p.S85G	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3752.37	307	chr19	54804969	.	A	G	3752.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.37;DP=2600;ExcessHet=1.3;FS=7.163;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.6;MQRankSum=-15.2;QD=2.5;ReadPosRankSum=-1.557;SOR=1.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,40:335:99:0|1:54804956_C_G:731,0,12229:54804956	14	0	5	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2105	8030.14	336	chr19	54805015	.	T	C	8030.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.79;DP=2956;ExcessHet=4.0268;FS=6.647;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-13.01;QD=3.18;ReadPosRankSum=1.01;SOR=1.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:289,66:355:99:0|1:54805010_A_G:1901,0,11887:54805010	11	0	8	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2105	8007.14	338	chr19	54805016	.	T	A	8007.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.061;DP=2964;ExcessHet=4.0268;FS=6.669;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.87;MQRankSum=-12.91;QD=3.16;ReadPosRankSum=0.2;SOR=1.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:289,66:355:99:0|1:54805010_A_G:1901,0,11909:54805010	11	0	8	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2105	9966.21	342	chr19	54805024	.	A	G	9966.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.197;DP=3023;ExcessHet=4.0268;FS=7.817;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-12.27;QD=3.85;ReadPosRankSum=0.559;SOR=1.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:286,76:362:99:0|1:54805010_A_G:2310,0,11729:54805010	11	0	8	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	11574.8	336	chr19	54805033	.	C	T	11574.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.08;DP=3229;ExcessHet=5.3738;FS=7.591;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.86;MQRankSum=-11.71;QD=4.13;ReadPosRankSum=0.026;SOR=1.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:272,83:355:99:0|1:54805010_A_G:2575,0,11058:54805010	10	0	9	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	16487.8	282	chr19	54805068	.	A	G	16487.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.661;DP=3098;ExcessHet=5.3738;FS=6.408;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.58;MQRankSum=-10.13;QD=6.21;ReadPosRankSum=0.594;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:242,99:341:99:0|1:54805068_A_G:3309,0,9386:54805068	10	0	9	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	11217.8	285	chr19	54805957	.	A	T	11217.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=6.41;DP=3489;ExcessHet=5.3738;FS=0.745;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.14;MQRankSum=-17.54;QD=4.08;ReadPosRankSum=1.88;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,62:317:99:0|1:54805940_TCTC_T:1836,0,10521:54805940	10	0	9	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	12237.8	292	chr19	54805960	.	A	G	12237.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.08;DP=3554;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.09;MQRankSum=-17.89;QD=4.35;ReadPosRankSum=1.92;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,65:325:99:0|1:54805940_TCTC_T:1947,0,10722:54805940	10	0	9	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	18304.8	343	chr19	54805974	.	A	T	18304.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=5;DP=3907;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.07;MQRankSum=-17.64;QD=5.78;ReadPosRankSum=0.738;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:277,88:365:99:0|1:54805940_TCTC_T:2861,0,11366:54805940	10	0	9	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.2368	21863.8	367	chr19	54805981	.	G	A	21863.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.72;DP=4133;ExcessHet=5.3738;FS=0.661;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.06;MQRankSum=-17.14;QD=6.47;ReadPosRankSum=-0.103;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,104:400:99:0|1:54805940_TCTC_T:3449,0,12096:54805940	10	0	9	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	28967.8	464	chr19	54806034	.	C	A	28967.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.002;DP=5609;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.16;MQRankSum=-17.78;QD=7.14;ReadPosRankSum=2.67;SOR=0.52	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:364,145:509:99:0|1:54806034_C_A:4974,0,14829:54806034	10	0	9	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2368	29072.8	465	chr19	54806035	.	A	G	29072.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.057;DP=5621;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.17;MQRankSum=-17.85;QD=7.12;ReadPosRankSum=2.75;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:367,148:515:99:0|1:54806034_C_A:5091,0,14946:54806034	10	0	9	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2368	26861.8	480	chr19	54806051	.	C	G	26861.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.294;DP=5669;ExcessHet=5.3738;FS=3.155;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-18.22;QD=6.48;ReadPosRankSum=4.27;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:376,140:516:99:0|1:54806034_C_A:4747,0,15367:54806034	10	0	9	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24665.8	493	chr19	54806072	.	GGA	G	24665.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.909;DP=5543;ExcessHet=5.3738;FS=5.455;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.64;MQRankSum=-17.97;QD=5.92;ReadPosRankSum=2.26;SOR=1.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:387,131:518:99:0|1:54806034_C_A:4336,0,15856:54806034	10	0	9	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24827.8	486	chr19	54806075	.	A	AGG	24827.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.586;DP=5494;ExcessHet=5.3738;FS=5.401;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.62;MQRankSum=-18.11;QD=6.01;ReadPosRankSum=1.98;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:379,131:510:99:0|1:54806034_C_A:4360,0,15520:54806034	10	0	9	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	24762.8	493	chr19	54806086	.	T	C	24762.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.369;DP=5427;ExcessHet=5.3738;FS=5.364;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.59;MQRankSum=-17.7;QD=6.11;ReadPosRankSum=-0.813;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:373,129:502:99:0|1:54806034_C_A:4294,0,15274:54806034	10	0	9	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	22088.8	476	chr19	54806109	.	A	G	22088.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.825;DP=5255;ExcessHet=5.3738;FS=6.805;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.8;MQRankSum=-16.73;QD=5.7;ReadPosRankSum=-4.112;SOR=1.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:380,115:495:99:0|1:54806034_C_A:3685,0,15610:54806034	10	0	9	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1579	7182.66	479	chr19	54806112	.	A	G	7182.66	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.229;DP=5127;ExcessHet=2.0135;FS=6.726;InbreedingCoeff=-0.1909;MLEAC=6;MLEAF=0.158;MQ=57.97;MQRankSum=-16.13;QD=2.73;ReadPosRankSum=-2.644;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:441,56:497:99:.:.:340,0,17690:.	13	0	6	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G,KIR2DL4:NM_001080772:exon4:c.A572G:p.E191G	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1579	1795.4	47	chr19	54806161	.	A	G	1795.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.44;DP=3936;ExcessHet=2.0135;FS=17.833;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.42;MQRankSum=-17.69;QD=0.91;ReadPosRankSum=3.35;SOR=2.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:357,30:387:99:0|1:54806034_C_A:185,0,14889:54806034	13	0	6	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T,KIR2DL4:NM_001080772:exon4:c.G581C:p.R194T	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1579	1616.45	47	chr19	54806170	.	G	C	1616.45	.	AC=6;AF=0.158;AN=38;BaseQRankSum=3.6;DP=3936;ExcessHet=2.0135;FS=11.67;InbreedingCoeff=-0.1833;MLEAC=6;MLEAF=0.158;MQ=58.45;MQRankSum=-17.59;QD=0.82;ReadPosRankSum=2.4;SOR=2.535	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:366,27:393:32:0|1:54806034_C_A:32,0,15205:54806034	13	0	6	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L,KIR2DL4:NM_001080772:exon4:c.T595C:p.F199L	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	2223.93	47	chr19	54806184	.	T	C	2223.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=6.11;DP=3906;ExcessHet=0.7564;FS=12.693;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=58.1;MQRankSum=-17.6;QD=1.71;ReadPosRankSum=0.112;SOR=2.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:362,30:392:99:0|1:54806184_T_C:170,0,14934:54806184	14	0	4	1
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E,KIR2DL4:NM_001080772:exon4:c.G602A:p.G201E	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	2514.93	47	chr19	54806191	.	G	A	2514.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.393;DP=3918;ExcessHet=0.7564;FS=14.521;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=58.01;MQRankSum=-17.76;QD=1.9;ReadPosRankSum=-2.092;SOR=2.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:370,30:400:99:0|1:54806184_T_C:146,0,15370:54806184	14	0	4	1
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	21983.8	431	chr19	54808838	.	C	T	21983.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=4.49;DP=4107;ExcessHet=5.3738;FS=2.282;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.63;MQRankSum=-19.28;QD=5.92;ReadPosRankSum=0.827;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:352,99:451:99:0|1:54808838_C_T:3097,0,14367:54808838	10	0	9	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	23223.8	454	chr19	54808850	.	TGG	T	23223.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.49;DP=4360;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.81;MQRankSum=-18.9;QD=5.89;ReadPosRankSum=0.205;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,111:485:99:0|1:54808838_C_T:3535,0,15362:54808838	10	0	9	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24382.8	451	chr19	54808853	.	C	CAT	24382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.99;DP=4351;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.86;MQRankSum=-18.78;QD=6.24;ReadPosRankSum=0.002;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:372,109:481:99:0|1:54808838_C_T:3457,0,15284:54808838	10	0	9	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.2368	28020.8	436	chr19	54808875	.	T	C	28020.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.98;DP=4474;ExcessHet=5.3738;FS=0.625;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.08;MQRankSum=-17.34;QD=6.97;ReadPosRankSum=-2.035;SOR=0.643	GT:AD:DP:GQ:PL	0/1:382,128:510:99:4228,0,10138	10	0	9	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T,KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3464.37	500	chr19	54830166	.	G	C	3464.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.189;DP=4368;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.27;MQRankSum=-17.81;QD=2.01;ReadPosRankSum=-0.268;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:306,41:347:99:0|1:54830134_C_T:800,0,12724:54830134	14	0	5	0
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C,KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3568.37	500	chr19	54830177	.	C	T	3568.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.692;DP=4402;ExcessHet=1.3;FS=0.852;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.24;MQRankSum=-18.17;QD=2.02;ReadPosRankSum=1.52;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:311,41:352:99:0|1:54830134_C_T:785,0,12935:54830134	14	0	5	0
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P,KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3559.37	500	chr19	54830178	.	G	C	3559.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.441;DP=4405;ExcessHet=1.3;FS=0.846;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.24;MQRankSum=-18.06;QD=2.02;ReadPosRankSum=1.69;SOR=0.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:304,41:347:99:.:.:782,0,12928:.	14	0	5	0
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T,KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	4015.37	500	chr19	54830217	.	T	C	4015.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.427;DP=4403;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.23;MQRankSum=-17.99;QD=2.27;ReadPosRankSum=4.03;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,45:367:99:0|1:54830134_C_T:920,0,13385:54830134	14	0	5	0
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M,KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	4012.37	500	chr19	54830219	.	T	A	4012.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.661;DP=4404;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.26;MQRankSum=-18.05;QD=2.27;ReadPosRankSum=3.57;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:323,45:368:99:0|1:54830134_C_T:917,0,13427:54830134	14	0	5	0
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M,KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3932.37	500	chr19	54830226	.	C	T	3932.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.664;DP=4371;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.38;MQRankSum=-18.39;QD=2.27;ReadPosRankSum=2.58;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:316,44:360:99:0|1:54830134_C_T:896,0,13136:54830134	14	0	5	0
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6,KIR3DL1:NM_013289:exon9:c.1313delC:p.S438Ffs*6	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3561.33	500	chr19	54830252	.	TC	T	3561.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.511;DP=4224;ExcessHet=1.3;FS=0.843;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.3;MQRankSum=-15.73;QD=2.24;ReadPosRankSum=-1.435;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,39:321:99:0|1:54830134_C_T:789,0,11724:54830134	14	0	5	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*,KIR3DL1:NM_013289:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3423.33	500	chr19	54830255	.	AAAG	A	3423.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.433;DP=4210;ExcessHet=1.3;FS=0.838;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.32;MQRankSum=-15.59;QD=2.18;ReadPosRankSum=-1.73;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:279,38:317:99:0|1:54830134_C_T:756,0,11601:54830134	14	0	5	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	16182.8	400	chr19	54855625	.	A	T	16182.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.948;DP=3660;ExcessHet=5.3738;FS=5.844;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-15.96;QD=4.91;ReadPosRankSum=1.39;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,89:328:99:0|1:54855608_TCTC_T:3018,0,9757:54855608	10	0	9	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	15726.8	400	chr19	54855628	.	A	G	15726.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.821;DP=3692;ExcessHet=5.3738;FS=4.645;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.48;MQRankSum=-16.15;QD=4.72;ReadPosRankSum=0.875;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,89:329:99:0|1:54855608_TCTC_T:3015,0,9778:54855608	10	0	9	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10,KIR3DL2:NM_006737:exon5:c.704_705del:p.Q235Rfs*10	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4676.36	37	chr19	54855666	.	CAG	C	4676.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.815;DP=2910;ExcessHet=2.0135;FS=16.669;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.1;MQRankSum=-18.27;QD=1.99;ReadPosRankSum=-0.397;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,50:349:99:0|1:54855666_CAG_C:1184,0,12391:54855666	13	0	6	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5,KIR3DL2:NM_006737:exon5:c.706_707insCA:p.G237Qfs*5	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4691.36	37	chr19	54855669	.	G	GCA	4691.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.507;DP=2868;ExcessHet=2.0135;FS=16.669;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.27;MQRankSum=-18.56;QD=2;ReadPosRankSum=-0.817;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,50:349:99:0|1:54855666_CAG_C:1184,0,12391:54855666	13	0	6	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	2293.43	58	chr19	54859084	.	C	T	2293.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.757;DP=2389;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=43.1;MQRankSum=-6.226;QD=1.28;ReadPosRankSum=-1.091;SOR=0.686	GT:AD:DP:GQ:PL	0/1:386,40:426:99:523,0,9897	15	0	4	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2124.39	58	chr19	54859096	.	TGG	T	2124.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.89;DP=2420;ExcessHet=0.7564;FS=0.938;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=42.24;MQRankSum=-5.586;QD=1.17;ReadPosRankSum=0.893;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:400,40:440:99:0|1:54859096_TGG_T:415,0,16628:54859096	15	0	4	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2020.39	58	chr19	54859099	.	C	CAT	2020.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.825;DP=2401;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=42.16;MQRankSum=-5.525;QD=1.12;ReadPosRankSum=1.1;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:400,37:437:99:0|1:54859096_TGG_T:350,0,16637:54859096	15	0	4	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	2183.43	58	chr19	54859126	.	T	A	2183.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.938;DP=2289;ExcessHet=0.7564;FS=0.941;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=41.24;MQRankSum=-4.282;QD=1.3;ReadPosRankSum=4.53;SOR=0.558	GT:AD:DP:GQ:PL	0/1:369,37:406:99:448,0,9530	15	0	4	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	22597.8	284	chr19	54865810	.	T	C	22597.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.986;DP=2652;ExcessHet=5.3738;FS=1.952;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.92;MQRankSum=-10.78;QD=9.81;ReadPosRankSum=1.98;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,95:283:99:0|1:54865794_T_C:3423,0,7608:54865794	10	0	9	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	22429.8	301	chr19	54865825	.	G	A	22429.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.241;DP=2724;ExcessHet=5.3738;FS=1.229;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.98;MQRankSum=-10.85;QD=9.44;ReadPosRankSum=1.27;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,91:291:99:0|1:54865794_T_C:3219,0,8124:54865794	10	0	9	0
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	22846.8	292	chr19	54865847	.	T	C	22846.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.52;DP=2735;ExcessHet=5.3738;FS=1.233;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.89;MQRankSum=-11.29;QD=9.58;ReadPosRankSum=-0.512;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,94:298:99:0|1:54865794_T_C:3333,0,8283:54865794	10	0	9	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	22283.8	290	chr19	54865852	.	T	A	22283.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.288;DP=2728;ExcessHet=5.3738;FS=0.585;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.95;MQRankSum=-11.05;QD=9.38;ReadPosRankSum=-0.814;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,94:301:99:0|1:54865794_T_C:3324,0,8409:54865794	10	0	9	0
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	21311.8	283	chr19	54865864	.	C	A	21311.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.371;DP=2678;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.79;QD=9.15;ReadPosRankSum=-1.298;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,87:290:99:0|1:54865794_T_C:3042,0,8262:54865794	10	0	9	0
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	20345.8	277	chr19	54865870	.	C	T	20345.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.04;DP=2639;ExcessHet=5.3738;FS=0.593;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.61;QD=8.88;ReadPosRankSum=-1.286;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,83:285:99:0|1:54865794_T_C:2877,0,8232:54865794	10	0	9	0
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	18505.8	253	chr19	54865885	.	T	C	18505.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.01;DP=2431;ExcessHet=5.3738;FS=2.014;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.87;MQRankSum=-10.07;QD=8.9;ReadPosRankSum=-0.993;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:184,79:263:99:.:.:2764,0,6853:.	10	0	9	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	17382.8	250	chr19	54865888	.	C	T	17382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.31;DP=2397;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.88;MQRankSum=-10.14;QD=8.47;ReadPosRankSum=-1.507;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,81:264:99:0|1:54865794_T_C:2844,0,7416:54865794	10	0	9	0
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	16780.8	240	chr19	54865893	.	G	C	16780.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.95;DP=2346;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.82;MQRankSum=-9.923;QD=8.48;ReadPosRankSum=-1.483;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,80:252:99:0|1:54865794_T_C:2828,0,6957:54865794	10	0	9	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1842	10927.4	327	chr19	54866420	.	C	G	10927.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-4.131;DP=2886;ExcessHet=2.9153;FS=19.849;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.15;MQRankSum=-16.65;QD=5.36;ReadPosRankSum=0.448;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,52:303:99:0|1:54866416_T_C:1428,0,10363:54866416	12	0	7	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D,KIR3DL2:NM_006737:exon9:c.A1170T:p.E390D	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	1677.93	40	chr19	54866533	.	A	T	1677.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.178;DP=3750;ExcessHet=0.7564;FS=36.09;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=58.13;MQRankSum=-22.23;QD=0.82;ReadPosRankSum=0.265;SOR=2.956	GT:AD:DP:GQ:PL	0/1:475,64:539:99:479,0,13508	14	0	4	1
chr19	55134065	55134065	C	G	splicing	TNNT1	NM_001126133:exon11:c.669+1G>C;NM_003283:exon12:c.750+1G>C;NM_001126132:exon12:c.702+1G>C;NM_001291774:exon12:c.669+1G>C	.	.	Nemaline myopathy 5, Amish type, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs111998831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618043	0.98066	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.362795	0.89928	31	0.99337376289983803	0.60012	0.99350	0.94868	D	AEFDGBI	.	.	.	0.941013529495103	0.93619	12.16069	0.726786160149203	0.84412	8.284809	0.999999999978835	0.74766	0.258101	0.04556	0	0.066906	0.01782	0	0.271638	0.05368	0	0.062806	0.01542	0	0.96798	0.70468	4.35	4.35	0.51454	7.818000	0.84740	7.416000	0.58680	0.552000	0.28158	1.000000	0.71638	1.000000	0.68203	0.457000	0.28051	0.0:1.0:0.0:0.0	14.748	0.69123	988	0.01987	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	34.33	38	chr19	55134065	.	C	G	34.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.804;DP=722;ExcessHet=0;FS=53.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=0.109;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,13:65:48:0|1:55134061_C_G:48,0,1618:55134061	18	0	1	0
chr19	55165795	55165795	A	C	exonic	DNAAF3	.	nonsynonymous SNV	DNAAF3:NM_001256716:exon3:c.T53G:p.I18S	Ciliary dyskinesia, primary, 2, Autosomal recessive	0	1494	26	2	0	30	0.00994036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.000199681	0.0024	0	0	0	0	0.0033	0.0104	0.0023	0.0006404	99	154602	rs537635826	0.0006	0.0006	0.0005	0.0007	0.0044	0.0006	0.0005	0.0030	0.0026	6.182e-05	0.0005	0.0020	0	2.046e-05	0.0044	0.0005	0.0012	0.0022	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0007	0.0005	4.824e-05	0	0.0010	0.0020	0	0	0.0068	0.0007	0.0005	0.0008	0.011	0.55530	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.3	0.16953	T	0.4	0.03463	N	0.202	0.22357	-0.9537	0.40327	T	0.016	0.06425	T	8	0.00550279	0.00121	T	.	.	.	0.014	0.01968	.	.	0.0716867268079	0.06686	.	.	.	.	.	.	.	.	.	.	-0.674487	0.00052	T	-0.748106	0.03560	T	0.012129488222065	0.00193	T	0.361964	0.08365	T	.	.	.	.	.	.	.	.	-1.348	0.01480	T	.	.	0.134	0.29060	B	.	.	0.599689	0.09679	6.452	0.95362320973247905	0.26763	0.06154	0.12135	N	AEFGBCI	0.088806	0.18002	N	-1.02745366790125	0.08037	0.3754451	-1.10485010075216	0.07607	0.3706807	0.999224403668781	0.38808	0.516011	0.20929	0	0.563428	0.19063	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	2.4	0.442	0.15794	-0.566000	0.06013	-1.184000	0.06088	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.141000	0.19983	0.6684:0.3316:0.0:0.0	6.101	0.19268	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1608.83	34	chr19	55165795	.	A	C	1608.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.103;DP=709;ExcessHet=0.119;FS=0.718;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.073;SOR=0.796	GT:AD:DP:GQ:PL	0/1:27,34:61:99:947,0,800	17	0	2	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,39:78:99:1|0:55358511_GGCTCCTTCATCTCGCCCCATGGCT_G:3232,1578,1462:55358511	0	15	4	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3915.38	124	chr19	55358535	.	T	*	3915.38	.	AC=34;AF=0.895;AN=38;DP=2124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.23;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,39:84:99:1|0:55358511_GGCTCCTTCATCTCGCCCCATGGCT_G:3368,1736,1720:55358511	0	15	4	0
chr19	55785653	55785653	G	A	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001297743:exon11:c.C2777T:p.S926L,NLRP11:NM_001385451:exon11:c.C2912T:p.S971L,NLRP11:NM_001385453:exon11:c.C2903T:p.S968L,NLRP11:NM_145007:exon12:c.C3074T:p.S1025L	.	438	1071	11	2	0	15	0.0069541	.	.	.	716691	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.200	.	0.0075	0.00239617	0.0068	0.0019	0.0042	0	0.0017	0.0106	0.0066	0.0018	0.0070892	1096	154602	rs11671248	0.0087	0.0087	0.0089	0.0084	0.0102	0.0085	0.0085	0.0101	0.0100	0.0012	0.0064	0.0073	2.519e-05	0.0026	0.0078	0.0102	0.0075	0.0015	0.0069	0.0069	0.0076	0.0062	0.0108	0.0066	0.0064	0.0102	0.0099	0.0022	0.0307	0.0077	0.0081	0.0002	0.0023	0.0170	0.0108	0.0076	0.0014	.	.	.	0.0	0.92824	D	0.995	0.67487	D	0.685	0.53610	P	.	.	.	.	1	0.08975	N	0.69	0.16971	N	-0.87	0.75001	T	.	.	.	0.102	0.15469	-0.8438	0.52392	T	0.170	0.51101	T	9	0.0074005127	0.00168	T	.	.	.	.	.	.	.	0.69812237785	0.69551	0.06583810391804383	0.06522	.	.	0.388072490692	0.23399	T	0.004231	0.03640	T	-0.54615	0.00308	T	-0.545607	0.17750	T	0.00440342218219373	0.00047	T	0.677732	0.28664	T	0.049339827	0.08747	0.082230024	0.18749	0.049339827	0.08746	0.082230024	0.18749	-3.304	0.13971	T	.	.	0.166	0.36673	B	.;.;.	.;.;.	0.264754	0.06429	2.900	0.96319911483098941	0.29410	0.00550	0.02521	N	AEFDBI	0.034512	0.04287	N	-0.946028718268307	0.09781	0.4644893	-1.16136575257668	0.06565	0.3164722	2.28868471596766E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.27	-1.46	0.08338	0.065000	0.14336	1.019000	0.23391	-0.816000	0.03012	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.0:0.5889:0.4111:0.0	6.723	0.22527	846	0.36215	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012085	0.005051	0.014946	0.020468	0.000000	0.008621	0.018293	0.000000	0.02632	1262.33	34	chr19	55785653	.	G	A	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.219;DP=743;ExcessHet=0;FS=1.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-1.58;SOR=0.954	GT:AD:DP:GQ:PL	0/1:33,49:82:99:1276,0,752	18	0	1	0
chr19	56816853	56816853	C	G	exonic	PEG3	.	nonsynonymous SNV	PEG3:NM_001369735:exon8:c.G1124C:p.G375A,PEG3:NM_001369736:exon8:c.G1124C:p.G375A,PEG3:NM_001146184:exon9:c.G1589C:p.G530A,PEG3:NM_001146185:exon9:c.G1211C:p.G404A,PEG3:NM_001146187:exon9:c.G1217C:p.G406A,PEG3:NM_001369717:exon9:c.G1595C:p.G532A,PEG3:NM_001369719:exon9:c.G1502C:p.G501A,PEG3:NM_001369721:exon9:c.G1217C:p.G406A,PEG3:NM_001369725:exon9:c.G1217C:p.G406A,PEG3:NM_001369733:exon9:c.G1217C:p.G406A,PEG3:NM_001369734:exon9:c.G1124C:p.G375A,PEG3:NM_001369737:exon9:c.G1124C:p.G375A,PEG3:NM_001369718:exon10:c.G1595C:p.G532A,PEG3:NM_001369722:exon10:c.G1217C:p.G406A,PEG3:NM_001369727:exon10:c.G1217C:p.G406A,PEG3:NM_001369729:exon10:c.G1217C:p.G406A,PEG3:NM_001369730:exon10:c.G1217C:p.G406A,PEG3:NM_001369732:exon10:c.G1217C:p.G406A,PEG3:NM_001369738:exon10:c.G1124C:p.G375A,PEG3:NM_001369739:exon10:c.G1217C:p.G406A,PEG3:NM_006210:exon10:c.G1589C:p.G530A,PEG3:NM_001369723:exon11:c.G1217C:p.G406A,PEG3:NM_001369726:exon11:c.G1217C:p.G406A,PEG3:NM_001369728:exon11:c.G1217C:p.G406A,PEG3:NM_001369731:exon11:c.G1217C:p.G406A,PEG3:NM_001369720:exon12:c.G1217C:p.G406A,PEG3:NM_001369724:exon12:c.G1217C:p.G406A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00232952807901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.016	0.60972	D	0.02	0.18235	B	0.014	0.16862	B	0.153920	0.17877	N	0.470180	.	.	.	-0.345	0.03330	N	4.2	0.03121	T	0.47	0.03090	N	0.071	0.04426	-0.9876	0.33200	T	0.005	0.01651	T	9	0.116607785	0.22001	T	0.00233	0.04507	T	0.011	0.01250	0.581	0.70733	0.40722173914	0.40337	.	.	0.0490915211193	0.05371	0.27234596014	0.06449	T	0.089531	0.38391	T	-0.365448	0.03831	T	-0.762717	0.03016	T	0.142372831702232	0.16477	T	0.715628	0.34112	T	0.04876859	0.08553	0.057931513	0.10618	0.04876859	0.08552	0.057931513	0.10618	-6.227	0.49751	T	.	.	0.091	0.18580	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.160892	0.05513	1.977	0.652010875573661	0.07706	0.13987	0.18161	N	AEFBCI	0.190958	0.31817	N	-1.19965895113861	0.05006	0.2272197	-1.21026931923005	0.05744	0.2745551	0.00648010982395555	0.11227	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.14	0.825	0.17962	0.120000	0.15476	.	.	-0.130000	0.13190	0.006000	0.17386	0.000000	0.08366	0.023000	0.12082	0.0:0.1871:0.1652:0.6478	4.636	0.11908	976	0.04745	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	2997.33	44	chr19	56816853	.	C	G	2997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3;DP=907;ExcessHet=0;FS=4.485;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.421;SOR=0.986	GT:AD:DP:GQ:PL	0/1:122,110:232:99:3011,0,3365	18	0	1	0
chr19	58085278	58085278	G	A	exonic	ZSCAN18	.	nonsynonymous SNV	ZSCAN18:NM_001145544:exon6:c.C532T:p.L178F,ZSCAN18:NM_001145542:exon7:c.C1108T:p.L370F,ZSCAN18:NM_001145543:exon7:c.C940T:p.L314F,ZSCAN18:NM_023926:exon7:c.C940T:p.L314F	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00255988320664	.	.	6.928e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs760913963	2.208e-05	2.189e-05	1.785e-05	2.635e-05	0.0018	1.598e-05	1.367e-05	0.0010	0.0007	0	0	0	0	0	0.0018	1.261e-05	0.0001	1.164e-05	1.972e-05	1.97e-05	0	4.037e-05	6.54e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.54e-05	0	0	0	0	2.942e-05	0	0	0.139	0.25768	T	0.194	0.29639	T	0.0	0.02946	B	0.0	0.01387	B	0.355448	0.13750	N	0.601453	1	0.08975	N	0.345	0.11182	N	3.88	0.03570	T	-0.1	0.17003	N	0.024	0.07262	-0.8994	0.48054	T	0.005	0.01725	T	10	0.06396797	0.08414	T	0.00256	0.05150	T	0.046	0.12618	.	.	0.143184338766	0.13958	0.10745141585926862	0.10674	0.0677146525078	0.07574	0.380742371082	0.22362	T	0.008051	0.12641	T	-0.391612	0.02627	T	-0.650007	0.08954	T	0.0148966382885502	0.00316	T	0.483852	0.14720	T	0.06423218	0.13606	0.045760736	0.06228	0.06423218	0.13606	0.045760736	0.06228	-5.488	0.43075	T	.	.	0.191	0.44253	B	.;.;.;.;.	.;.;.;.;.	0.927292	0.13022	9.529	0.87154485264369175	0.17026	0.04342	0.09906	N	AEFDBI	0.073695	0.14748	N	-1.07791479534323	0.07051	0.3264503	-1.08424157397537	0.08010	0.3920178	0.00302701194395094	0.09875	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	3.23	2.18	0.26813	0.193000	0.16921	1.323000	0.25616	0.674000	0.70861	0.000000	0.06391	0.022000	0.20871	0.001000	0.02609	0.1224:0.2147:0.6629:0.0	4.953	0.13376	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1030.33	34	chr19	58085278	.	G	A	1030.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=729;ExcessHet=0;FS=1.926;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.74;SOR=0.948	GT:AD:DP:GQ:PL	0/1:41,36:77:99:1044,0,1102	18	0	1	0
chr19	58517234	58517234	G	A	exonic	ZBTB45	.	nonsynonymous SNV	ZBTB45:NM_001316978:exon2:c.C440T:p.A147V,ZBTB45:NM_001316979:exon2:c.C440T:p.A147V,ZBTB45:NM_001316980:exon2:c.C440T:p.A147V,ZBTB45:NM_001316981:exon2:c.C440T:p.A147V,ZBTB45:NM_001316982:exon2:c.C440T:p.A147V,ZBTB45:NM_032792:exon2:c.C440T:p.A147V	.	400	1119	3	0	0	3	0.00133869	.	.	.	2332618	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.116802592691	.	0.000199681	0.0003	0	0.0008	0	0	0.0003	0.0014	0	0.0002135	33	154602	rs201131766	0.0002	0.0002	0.0002	0.0002	0.0046	0.0002	0.0002	0.0032	0.0028	0.0002	0.0005	3.902e-05	5.064e-05	0	0.0046	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0001	0.0007	0.0001	8.716e-05	0.0004	0.0003	0	0	0.0007	0	0	0	0	0.0001	0.0028	0	0.004	0.65419	D	0.046	0.49120	D	0.998	0.73220	D	0.757	0.56292	P	0.473131	0.04937	N	1.414250	0.627648	0.30726	N	0.975	0.24501	L	2.96	0.09542	T	-1.26	0.31778	N	0.378	0.42050	-1.0081	0.27510	T	0.037	0.16073	T	10	0.09021947	0.15698	T	0.116803	0.79640	D	0.106	0.30130	.	.	0.602107291794	0.59893	0.29392500729795973	0.29305	0.579827587578	0.53846	0.921358883381	0.98425	D	0.021936	0.17000	T	-0.385047	0.02894	T	-0.441439	0.28646	T	0.048295928082925	0.05196	T	0.653735	0.26383	T	0.083271995	0.19223	0.12548979	0.30235	0.083271995	0.19223	0.12548979	0.30234	-5.731	0.43968	T	.	.	0.284	0.51626	B	.;.;.	.;.;.	4.123628	0.61658	24.4	0.99913377357925048	0.98238	0.74899	0.36652	D	AEFDBHI	0.121767	0.23659	N	0.0970148515311515	0.46322	2.874462	0.0591569886557788	0.42515	2.572936	0.999999937473154	0.74766	0.696267	0.57585	0	0.577304	0.33150	0	0.691665	0.62940	0	0.635551	0.53088	0	.	.	3.84	2.69	0.30923	3.425000	0.52535	5.655000	0.49197	0.610000	0.48991	0.987000	0.36337	1.000000	0.68203	0.229000	0.22707	0.0:0.0:0.7975:0.2025	10.009	0.41144	894	0.26265	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005561	0.005155	0.002717	0.017544	0.000000	0.000000	0.000000	0.007576	0.02632	2573.33	80	chr19	58517234	.	G	A	2573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=896;ExcessHet=0;FS=4.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=-0.135;SOR=0.399	GT:AD:DP:GQ:PL	0/1:50,88:138:99:2587,0,1175	18	0	1	0
chr20	2839847	2839847	C	A	exonic	PCED1A	.	nonsynonymous SNV	PCED1A:NM_001271168:exon2:c.G66T:p.Q22H,PCED1A:NM_022760:exon2:c.G66T:p.Q22H	.	422	1085	14	1	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0013	0.0101837	0.0050	0.0023	0.0060	0.0035	0	0.0010	0.0055	0.0247	0.0046571	720	154602	rs2274670	0.0029	0.0029	0.0022	0.0035	0.0233	0.0028	0.0028	0.0225	0.0221	0.0029	0.0047	0.0007	0.0117	5.617e-05	0.0113	0.0010	0.0046	0.0233	0.0024	0.0025	0.0021	0.0028	0.0269	0.0022	0.0022	0.0232	0.0217	0.0019	0	0.0044	0.0003	0.0048	0	0.0238	0.0008	0.0038	0.0269	0.571	0.06735	T	0.579	0.34241	T	0.003	0.11197	B	0.011	0.15521	B	0.071709	0.21456	N	0.393509	0.989646	0.24271	N	0.755	0.19153	N	2.29	0.17113	T	-1.48	0.36189	N	0.269	0.31478	-1.0191	0.24008	T	0.011	0.03949	T	10	0.005336851	0.00117	T	.	.	.	0.058	0.16647	0.098	0.01383	0.176091768786	0.17195	0.5335976196822014	0.53284	0.388599313897	0.40119	0.558968782425	0.47123	T	0.019843	0.15731	T	-0.614315	0.00119	T	-0.636944	0.09893	T	0.00850352427745692	0.00103	T	0.373463	0.09662	T	0.05243454	0.09778	0.07801061	0.17431	0.05243454	0.09777	0.07801061	0.17431	-6.448	0.54405	T	.	.	0.109	0.35992	B	.;.;.;.	.;.;.;.	1.760878	0.22396	15.60	0.99080308413867779	0.51954	0.38033	0.25897	N	AEFDGBCI	0.155415	0.28061	N	-0.484686534848767	0.22582	1.206819	-0.375400019649371	0.25732	1.416937	0.999999777499574	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.493711	0.08198	1	0.562822	0.20929	0	.	.	3.83	0.993	0.18943	-0.018000	0.12508	0.205000	0.15895	0.599000	0.40250	0.814000	0.29906	0.975000	0.29991	0.995000	0.73285	0.2039:0.4247:0.183:0.1884	1.010	0.01402	462	0.78611	.;.;.;.	.	.	.	.	rs2274670	Likely benign	0	0	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	0.017120	0.035354	0.017663	0.014620	0.000000	0.025862	0.000000	0.015152	0.02632	2391.33	35	chr20	2839847	.	C	A	2391.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.935;DP=832;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.861;SOR=0.666	GT:AD:DP:GQ:PL	0/1:90,96:186:99:2405,0,2230	18	0	1	0
chr20	2860849	2860849	G	A	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_022575:exon6:c.G616A:p.A206T,VPS16:NM_080413:exon6:c.G616A:p.A206T	.	428	1079	14	1	0	16	0.00735971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0011	0.0103834	0.0050	0.0023	0.0060	0.0035	0	0.0010	0.0066	0.0247	0.0045924	710	154602	rs116927511	0.0029	0.0029	0.0022	0.0035	0.0233	0.0028	0.0028	0.0224	0.0221	0.0027	0.0047	0.0003	0.0117	5.627e-05	0.0120	0.0010	0.0045	0.0233	0.0025	0.0025	0.0021	0.0028	0.0269	0.0023	0.0022	0.0231	0.0217	0.0019	0	0.0044	0	0.0050	0	0.0238	0.0009	0.0038	0.0269	0.676	0.04588	T	0.639	0.14412	T	0.023	0.18885	B	0.008	0.13708	B	0.014494	0.28517	N	0.432061	0.989979	0.24230	N	0.77	0.19370	N	1.0	0.42502	T	0.64	0.04380	N	0.107	0.09207	-1.0599	0.11781	T	0.025	0.10910	T	10	0.0053527653	0.00117	T	.	.	.	0.056	0.15993	.	.	0.362960570912	0.35913	0.24844411409874928	0.24758	0.207235478555	0.23175	0.30611550808	0.11320	T	0.026551	0.19627	T	-0.547009	0.00304	T	-0.540263	0.18270	T	0.000687076473209285	0.00006	T	0.752925	0.41194	T	0.011631174	0.00020	0.031767823	0.01813	0.012516641	0.00035	0.03398357	0.02385	-4.234	0.27241	T	.	.	0.064	0.04723	B	.;.;.;.	.;.;.;.	0.274372	0.06519	2.999	0.66317106087894573	0.08023	0.10402	0.15919	N	AEFDBI	0.081888	0.16576	N	-1.07019382546567	0.07197	0.3336245	-1.07550188387464	0.08184	0.4013015	0.0267623629231691	0.13733	0.706548	0.73137	0	0.724815	0.89359	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.95	-1.55	0.08105	0.213000	0.17310	0.740000	0.21154	-0.113000	0.14837	0.032000	0.20554	0.060000	0.22018	0.310000	0.24737	0.3943:0.0:0.3629:0.2428	4.289	0.10316	471	0.78036	Vps16, N-terminal;.;Vps16, N-terminal;Vps16, N-terminal	.	.	.	.	rs116927511	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.018630	0.040404	0.020380	0.014620	0.000000	0.025862	0.000000	0.011364	0.02632	2411.33	43	chr20	2860849	.	G	A	2411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.717;DP=858;ExcessHet=0;FS=0.547;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.815;SOR=0.775	GT:AD:DP:GQ:PL	0/1:89,93:182:99:2425,0,2281	18	0	1	0
chr20	3044684	3044684	G	A	exonic	GNRH2	.	nonsynonymous SNV	GNRH2:NM_001310220:exon3:c.G160A:p.A54T,GNRH2:NM_001501:exon3:c.G160A:p.A54T	.	423	1082	16	1	0	18	0.00824931	.	.	.	716895	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.006	.	0.0086	0.0165735	0.0075	0.0279	0.0075	0.0038	0	0.0011	0.0076	0.0250	0.0064553	998	154602	rs61729220	0.0034	0.0034	0.0029	0.0040	0.0251	0.0034	0.0033	0.0237	0.0231	0.0251	0.0060	0.0003	0.0117	5.684e-05	0.0143	0.0010	0.0059	0.0223	0.0087	0.0088	0.0084	0.0091	0.0242	0.0084	0.0082	0.0229	0.0224	0.0242	0	0.0062	0	0.0048	0	0.0238	0.0009	0.0099	0.0238	0.211	0.19569	T	0.346	0.17696	T	0.025	0.19245	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	0.85	0.47130	T	0.23	0.04613	N	0.121	0.11197	-1.0469	0.15274	T	0.023	0.09696	T	9	0.0025749207	0.00039	T	.	.	.	0.006	0.00375	.	.	0.0954503805726	0.09146	0.03175787833307577	0.03124	0.0431863063753	0.04650	0.412202715874	0.26761	T	0.044836	0.26936	T	-0.586809	0.00175	T	-0.596763	0.13085	T	0.00688755399468921	0.00078	T	0.412859	0.10744	T	0.033937883	0.03713	0.066301435	0.13561	0.033937883	0.03713	0.066301435	0.13561	-4.46	0.30362	T	.	.	0.076	0.05890	B	.	.	0.299091	0.06751	3.262	0.98633480010112773	0.43947	0.07303	0.13325	N	AEFDBCI	0.030129	0.02974	N	-1.28849221348319	0.03813	0.1710038	-1.33034163160204	0.04043	0.1898865	0.99999864656081	0.74766	0.009731	0.00075	3	0.514364	0.08380	0	0.514364	0.09456	0	0.645665	0.59343	0	.	.	3.89	-1.64	0.07874	0.415000	0.20901	0.500000	0.18986	-0.135000	0.12811	0.014000	0.18986	0.000000	0.08366	0.003000	0.05239	0.5565:0.0:0.4435:0.0	7.301	0.25593	830	0.39242	.	.	.	.	.	rs61729220	Likely benign	0	0	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	0.019797	0.040816	0.019126	0.020588	0.000000	0.025862	0.000000	0.011364	0.02632	791.33	41	chr20	3044684	.	G	A	791.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.731;DP=696;ExcessHet=0;FS=1.007;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.015;SOR=0.489	GT:AD:DP:GQ:PL	0/1:27,32:59:99:805,0,753	18	0	1	0
chr20	3115382	3115382	G	A	exonic	UBOX5	.	nonsynonymous SNV	UBOX5:NM_001267584:exon4:c.C1340T:p.A447V,UBOX5:NM_014948:exon4:c.C1340T:p.A447V	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.011253645762	.	.	0.0001	0	8.654e-05	0	0	1.501e-05	0	0.0010	0.0001164	18	154602	rs772740134	5.13e-05	5.13e-05	2.314e-05	7.976e-05	0.0008	4.192e-05	3.823e-05	0.0007	0.0006	0	0	0	0	0	0	8.993e-07	4.967e-05	0.0008	2.625e-05	2.624e-05	1.284e-05	4.026e-05	0.0008	8.13e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.048	0.40068	D	0.078	0.42261	T	0.335	0.33330	B	0.086	0.29521	B	0.016360	0.28001	U	0.363355	1	0.27573	N	2.43	0.70455	M	1.4	0.33630	T	-0.74	0.20791	N	0.421	0.46086	-1.0036	0.28874	T	0.052	0.22230	T	10	0.07713401	0.12136	T	0.011254	0.28682	T	0.095	0.27398	0.194	0.10571	0.654990179022	0.65211	0.320733589615957	0.31986	0.309576127487	0.33265	0.411465287209	0.26660	T	0.064101	0.32346	T	-0.403989	0.02180	T	-0.409427	0.32290	T	0.181404727298325	0.19323	T	0.873613	0.58243	D	0.11964803	0.28170	0.14453784	0.34311	0.11964803	0.28169	0.14453784	0.34310	-5.19	0.38840	T	.	.	0.112	0.22098	B	.	.	3.789532	0.54539	23.5	0.99705079586826517	0.80936	0.41790	0.26735	N	AEFDBCI	0.377566	0.46129	N	-0.164523187260149	0.34619	1.978176	-0.0133347503900461	0.39112	2.314119	0.999783625481792	0.43007	0.696267	0.57585	0	0.613122	0.52510	0	0.691665	0.62940	0	0.629945	0.49285	0	.	.	5.01	3.99	0.45527	5.606000	0.67324	9.639000	0.81144	0.614000	0.49286	0.968000	0.34134	1.000000	0.68203	0.990000	0.65344	0.0:0.1388:0.8612:0.0	16.969	0.86166	623	0.65786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1359.33	33	chr20	3115382	.	G	A	1359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.459;DP=695;ExcessHet=0;FS=0.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-1.238;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,36:82:99:0|1:3115382_G_A:1373,0,1823:3115382	18	0	1	0
chr20	3115383	3115383	C	A	exonic	UBOX5	.	nonsynonymous SNV	UBOX5:NM_001267584:exon4:c.G1339T:p.A447S,UBOX5:NM_014948:exon4:c.G1339T:p.A447S	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00597247294011	.	.	0.0001	0	8.654e-05	0	0	1.501e-05	0	0.0010	0.0001164	18	154602	rs760437668	5.131e-05	5.13e-05	2.314e-05	7.976e-05	0.0008	4.192e-05	3.823e-05	0.0007	0.0006	0	0	0	0	0	0	8.993e-07	4.967e-05	0.0008	2.625e-05	2.624e-05	1.285e-05	4.026e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.403	0.10378	T	0.871	0.03305	T	0.038	0.21002	B	0.015	0.17295	B	0.016360	0.28001	U	0.363355	1	0.29624	N	2.085	0.57729	M	1.58	0.29085	T	0.39	0.03521	N	0.116	0.10483	-1.0638	0.10831	T	0.036	0.15553	T	10	0.016915143	0.00358	T	0.005972	0.15579	T	0.023	0.04649	0.17	0.07536	0.357724736475	0.35387	0.19993786233829466	0.19910	0.244798543081	0.26991	0.375321060419	0.21591	T	0.02517	0.18872	T	-0.482366	0.00716	T	-0.52201	0.20090	T	0.0802052989602089	0.10013	T	0.711729	0.32279	T	0.059137914	0.11982	0.06229894	0.12166	0.059137914	0.11982	0.06229894	0.12166	-2.221	0.04143	T	.	.	0.075	0.05579	B	.	.	1.039606	0.14203	10.78	0.95413955803996142	0.26883	0.07794	0.13790	N	AEFDBCI	0.063557	0.12291	N	-0.69140642771391	0.16266	0.8271452	-0.556641108318916	0.20629	1.112336	0.999648679704907	0.41316	0.696267	0.57585	0	0.613122	0.52510	0	0.691665	0.62940	0	0.629945	0.49285	0	.	.	5.01	3.07	0.34476	0.176000	0.16596	-0.345000	0.09787	0.545000	0.25583	0.024000	0.20007	0.000000	0.08366	0.989000	0.64315	0.0:0.8431:0.0:0.1569	10.561	0.44335	623	0.65786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1359.33	33	chr20	3115383	.	C	A	1359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.549;DP=694;ExcessHet=0;FS=0.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-1.248;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,36:82:99:0|1:3115382_G_A:1373,0,1823:3115382	18	0	1	0
chr20	3166821	3166821	C	T	exonic	LZTS3	.	nonsynonymous SNV	LZTS3:NM_001282533:exon3:c.G343A:p.V115M,LZTS3:NM_001365618:exon3:c.G343A:p.V115M,LZTS3:NM_001367609:exon3:c.G433A:p.V145M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00523131200655	7.7e-05	.	0.0001	0	0	0	0	6.039e-05	0	0.0006	9.7e-05	15	154602	rs376730031	9.715e-05	9.714e-05	8.169e-05	0.0001	0.0008	8.378e-05	7.917e-05	0.0006	0.0006	8.961e-05	0	0	0	0	0.0003	5.845e-05	8.28e-05	0.0008	3.942e-05	3.94e-05	2.569e-05	5.379e-05	5.879e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.879e-05	0.0005	0	0.074	0.34621	T	0.256	0.23298	T	0.27	0.34565	B	0.007	0.17743	B	0.006457	0.32025	N	0.304109	0.880044	0.35732	D	0.255	0.09829	N	1.45	0.32958	T	-0.5	0.15986	N	0.118	0.29081	-1.0227	0.22834	T	0.036	0.15465	T	10	0.053254485	0.05488	T	0.005231	0.13341	T	0.043	0.11576	.	.	0.082315109003	0.07666	0.23191861109312462	0.23106	0.709073103648	0.61589	0.785390377045	0.79743	T	0.018776	0.15074	T	-0.403431	0.02198	T	-0.481018	0.24338	T	0.0544478129953389	0.06266	T	0.831017	0.49863	T	0.08646443	0.20098	0.086195394	0.19954	0.08646443	0.20098	0.086195394	0.19953	-4.676	0.33185	T	.	.	0.104	0.29450	B	.;.;.;.	.;.;.;.	3.188703	0.43316	21.7	0.99811085876111094	0.89531	0.31517	0.24357	N	AEFDBI	0.106819	0.21300	N	-0.328624870991123	0.28066	1.544927	-0.20322451481054	0.31419	1.778007	0.850506521342715	0.25035	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.579976	0.35079	0	.	.	4.66	3.48	0.38946	1.895000	0.39411	2.134000	0.30799	0.599000	0.40250	0.869000	0.30776	0.975000	0.29991	0.945000	0.48827	0.0:0.9098:0.0:0.0902	13.642	0.61730	665	0.61472	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	637.33	41	chr20	3166821	.	C	T	637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=724;ExcessHet=0;FS=1.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.983;SOR=0.446	GT:AD:DP:GQ:PL	0/1:26,22:48:99:651,0,657	18	0	1	0
chr20	3340557	3340557	C	T	exonic	C20orf194	.	nonsynonymous SNV	C20orf194:NM_001009984:exon10:c.G928A:p.E310K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.0212918308993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.0	0.92824	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	2.18	0.18875	T	-1.32	0.32991	N	0.899	0.89912	-0.8338	0.53055	T	0.217	0.57954	T	10	0.7940029	0.78907	D	0.021292	0.44035	T	0.202	0.48754	0.287	0.24601	0.760227436513	0.75805	0.5390313669186647	0.53828	0.54065144501	0.51256	.	.	.	0.036998	0.24313	T	0.145525	0.68847	D	-0.02874	0.68453	D	0.815083861509606	0.47412	D	0.949705	0.80662	D	0.22252333	0.44853	0.21964212	0.46710	0.22252333	0.44853	0.21964212	0.46709	-3.506	0.16515	T	.	.	0.426	0.60973	A	.	.	5.041040	0.83904	28.2	0.99938091365708326	0.99698	0.96525	0.69575	D	AEFDBIJ	0.679778	0.64369	D	0.782943909733222	0.85029	8.455585	0.792406322172012	0.89260	9.902809	0.99999999999848	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	6.706000	0.74474	7.566000	0.60594	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.883	0.96902	484	0.77165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1004.33	33	chr20	3340557	.	C	T	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=768;ExcessHet=0;FS=0.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.538;SOR=0.859	GT:AD:DP:GQ:PL	0/1:58,42:100:99:1018,0,1366	18	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4376.86	158	chr20	34852409	.	G	C	4376.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.129;DP=2851;ExcessHet=31.086;FS=291.473;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.306;SOR=13.781	GT:AD:DP:GQ:PL	0/1:119,73:199:99:405,0,1651	2	0	17	0
chr20	35504343	35504343	C	T	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_001318219:exon28:c.C4078T:p.R1360C,CEP250:NM_007186:exon30:c.C5974T:p.R1992C	.	425	1088	9	0	0	9	0.00411899	.	.	.	742375	not_provided|CEP250-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00744337336296	0.0027	0.00119808	0.0046	0.0012	0.0033	0.0003	0.0077	0.0057	0.0048	0.0038	0.002639	408	154602	rs41290926	0.0031	0.0031	0.0031	0.0032	0.0038	0.0031	0.0030	0.0032	0.0032	0.0005	0.0025	0.0039	0.0002	0.0040	0.0038	0.0033	0.0026	0.0029	0.0029	0.0029	0.0029	0.0028	0.0044	0.0027	0.0026	0.0040	0.0039	0.0010	0	0.0018	0.0035	0.0004	0.0039	0.0068	0.0044	0.0028	0.0010	0.162	0.26852	T	0.143	0.34596	T	0.003	0.11197	B	0.003	0.08700	B	0.608827	0.10887	N	0.820562	1	0.08975	N	1.1	0.28011	L	2.71	0.49358	T	-1.65	0.63438	N	0.064	0.03613	-1.0278	0.21168	T	0.078	0.31224	T	10	0.0033931136	0.00059	T	0.007443	0.19739	T	0.010	0.01040	.	.	0.442160178816	0.43838	0.07086943398542027	0.07023	0.192361749996	0.21563	0.20277056098	0.00541	T	0.036239	0.36102	T	-0.572368	0.00214	T	-0.592747	0.13430	T	0.00551139833997511	0.00060	T	0.837416	0.50983	T	0.056217723	0.11030	0.037594832	0.03447	0.04804123	0.08310	0.05243614	0.08639	-6.513	0.50387	T	.	.	0.092	0.19639	B	.;.	.;.	1.294203	0.16952	12.87	0.88366233913047632	0.17920	0.04928	0.10684	N	AEFDGBIJ	0.071595	0.14260	N	-0.921755398893209	0.10335	0.4933343	-0.882943617106219	0.12497	0.6432212	0.824898152481492	0.24589	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.08	3.13	0.35090	-0.191000	0.09598	0.136000	0.15109	-0.182000	0.10109	0.000000	0.06391	0.003000	0.18671	0.331000	0.25224	0.1299:0.5923:0.1265:0.1512	3.986	0.09008	542	0.72843	.;.	.	.	.	.	rs41290926	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002530	0.005155	0.002717	0.000000	0.050000	0.000000	0.003086	0.000000	0.02632	1097.33	40	chr20	35504343	.	C	T	1097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.22;DP=762;ExcessHet=0;FS=1.822;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.232;SOR=0.463	GT:AD:DP:GQ:PL	0/1:43,39:82:99:1111,0,1080	18	0	1	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G,RALGAPB:NM_001282918:exon4:c.A461G:p.E154G,RALGAPB:NM_020336:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	76.39	34	chr20	38497424	.	A	G	76.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.571;DP=1129;ExcessHet=0;FS=174.148;InbreedingCoeff=-0.0306;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=0.59;SOR=9.673	GT:AD:DP:GQ:PL	0/1:85,36:121:90:90,0,1641	18	0	1	0
chr20	44006673	44006673	G	A	exonic	TOX2	.	nonsynonymous SNV	TOX2:NM_001098796:exon3:c.G166A:p.G56S,TOX2:NM_001098797:exon3:c.G292A:p.G98S,TOX2:NM_001098798:exon3:c.G319A:p.G107S,TOX2:NM_032883:exon4:c.G166A:p.G56S	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00301271081974	0.0026	0.00179712	0.0024	0.0012	0.0002	0	0.0012	0.0035	0.0044	0.0024	0.0024321	376	154602	rs139380167	0.0037	0.0037	0.0038	0.0036	0.0044	0.0036	0.0036	0.0043	0.0042	0.0008	0.0003	0.0009	0	0.0009	0.0026	0.0044	0.0035	0.0024	0.0025	0.0025	0.0027	0.0023	0.0040	0.0023	0.0022	0.0036	0.0034	0.0011	0.0274	0.0003	0.0009	0.0002	0.0011	0	0.0040	0.0009	0.0035	0.786	0.03235	T	0.741	0.04965	T	0.108	0.26116	B	0.013	0.16460	B	0.003103	0.35419	N	0.309579	0.869857	0.28683	N	-0.345	0.03330	N	1.05	0.39990	T	0.41	0.05035	N	0.221	0.26111	-1.0914	0.05303	T	0.027	0.11663	T	10	0.0060950518	0.00137	T	0.003013	0.06457	T	0.065	0.18881	.	.	0.209943299407	0.20609	0.366609849214609	0.36574	0.336715624653	0.35668	0.382082521915	0.22552	T	0.002832	0.02227	T	-0.45935	0.00992	T	-0.430682	0.29857	T	0.00857870038714218	0.00105	T	0.841416	0.52334	T	0.02855788	0.02212	0.041475408	0.04721	0.02855788	0.02211	0.041475408	0.04721	-3.144	0.11927	T	.	.	0.061	0.01143	B	.;.;.;.	.;.;.;.	1.255407	0.16525	12.60	0.93091309521907362	0.22715	0.63730	0.32181	D	AEFDGBHCI	0.165826	0.29235	N	-0.51199534030107	0.21690	1.153021	-0.320731566376458	0.27429	1.521993	0.999997080771435	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.67347	0.61138	0	0.714379	0.83352	0	.	.	5.24	1.59	0.22622	1.190000	0.31735	-0.378000	0.09560	0.676000	0.76740	1.000000	0.71638	0.002000	0.18203	0.997000	0.79791	0.5819:0.0:0.4181:0.0	5.850	0.17940	522	0.74218	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003024	0.000000	0.001359	0.002941	0.000000	0.000000	0.006098	0.007576	0.02632	3471.33	33	chr20	44006673	.	G	A	3471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=874;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.46;SOR=0.665	GT:AD:DP:GQ:PL	0/1:123,136:259:99:3485,0,2834	18	0	1	0
chr20	46550558	46550558	C	T	exonic	OCSTAMP	.	startloss	OCSTAMP:NM_080721:exon1:c.G3A:p.M1?	.	427	1080	15	0	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.743415468977	0.0009	0.000399361	0.0015	0	0.0073	0	0.0018	0.0008	0	0.0024	0.000414	64	154602	rs201982370	0.0010	0.0010	0.0009	0.0012	0.0072	0.0010	0.0010	0.0055	0.0048	0.0003	0.0004	0	0	0.0001	0.0072	0.0010	0.0014	0.0030	0.0007	0.0007	0.0006	0.0008	0.0017	0.0006	0.0006	0.0010	0.0009	7.214e-05	0.0011	0.0005	0	0	0.0004	0.0102	0.0012	0.0005	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.981	0.59675	D	0.932	0.66722	D	.	.	.	.	1	0.81001	D	.	.	.	0.85	0.47130	T	-0.68	0.19509	N	0.905	0.90590	-0.5239	0.67770	T	0.263	0.63437	T	8	0.05213979	0.05202	T	0.743415	0.97947	D	0.293	0.61272	0.758	0.88730	0.335164054921	0.33125	0.3978455299208361	0.39699	.	.	.	.	.	0.003471	0.02879	T	-0.112038	0.34431	T	0.0638671	0.74502	D	0.152734796077675	0.17319	T	0.9	0.65058	D	0.8784407	0.89539	0.6997496	0.82311	0.8784407	0.89540	0.6997496	0.82312	-8.173	0.62243	D	.	.	.	.	.	.	.	2.151221	0.27404	17.45	0.98501855793267334	0.42228	0.82009	0.41305	D	AEFDBHCI	0.019887	0.00733	N	0.330129444091183	0.57701	3.938492	0.227479204873877	0.51377	3.320807	0.999976488912041	0.50053	0.487112	0.14033	0	0.480063	0.06835	0	0.607795	0.38427	0	0.564101	0.26826	0	.	.	4.14	4.14	0.47821	3.315000	0.51661	5.478000	0.48715	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:1.0:0.0:0.0	12.085	0.52989	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	0.004184	0.005263	0.000000	0.004167	0.000000	0.000000	0.000000	0.009804	0.02632	2033.33	34	chr20	46550558	.	C	T	2033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.842;DP=780;ExcessHet=0;FS=7.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.436;SOR=0.329	GT:AD:DP:GQ:PL	0/1:62,80:142:99:2047,0,1573	18	0	1	0
chr20	47651116	47651116	-	CAA	exonic	NCOA3	.	nonframeshift insertion	NCOA3:NM_001174087:exon20:c.3783_3784insCAA:p.Q1275_T1276insQ,NCOA3:NM_001174088:exon20:c.3759_3760insCAA:p.Q1267_T1268insQ,NCOA3:NM_006534:exon20:c.3774_3775insCAA:p.Q1272_T1273insQ,NCOA3:NM_181659:exon20:c.3786_3787insCAA:p.Q1276_T1277insQ	.	327	1166	10	7	12	36	0.0101868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0079	0.0016	0.0116	0.0086	0.0003	0.0003	0.0069	0.0434	0.00146	38	26028	rs753491875	0.0035	0.0044	0.0023	0.0046	0.0432	0.0034	0.0034	0.0420	0.0415	0.0024	0.0080	0.0023	0.0115	3.999e-05	0.0027	0.0002	0.0048	0.0432	0.0041	0.0043	0.0029	0.0053	0.0599	0.0038	0.0037	0.0541	0.0519	0.0025	0	0.0083	0.0035	0.0136	0	0	0.0004	0.0033	0.0599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285270	0.252525	0.317935	0.255245	0.250000	0.327586	0.273006	0.231061	0.02941	2423.07	47	chr20	47651116	.	G	GCAA	2423.07	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.367;DP=1166;ExcessHet=0;FS=2.424;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=20.89;ReadPosRankSum=2.91;SOR=0.564	GT:AD:DP:GQ:PL	0/1:69,47:116:99:2436,0,2656	16	0	1	2
chr20	49248662	49248662	T	A	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon14:c.A4362T:p.E1454D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0109540912651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.245	0.24054	T	0.872	0.47902	P	0.237	0.38508	B	0.000014	0.62929	D	0.117449	0.668304	0.81001	D	1.845	0.48678	L	0.43	0.56772	T	-1.44	0.35399	N	0.291	0.34659	-0.9406	0.42521	T	0.088	0.34050	T	10	0.15322968	0.28927	T	0.010954	0.28062	T	0.095	0.27398	0.183	0.09131	0.200294437569	0.19612	0.1983539730384628	0.19752	0.37764237124	0.39187	0.461374908686	0.33499	T	0.022219	0.17168	T	-0.0468303	0.44927	T	-0.305045	0.44189	T	0.639410495758057	0.38012	D	0.875013	0.58582	D	0.16967809	0.37497	0.12911335	0.31051	0.16967809	0.37497	0.12911335	0.31050	-6.193	0.47866	T	.	.	0.502	0.64677	A	.;.	.;.	2.196153	0.28006	17.65	0.98957217933747232	0.49266	0.90999	0.52663	D	AEFDBCI	0.445809	0.50213	N	0.0177416351359667	0.42662	2.574748	0.110304971501197	0.45073	2.777195	0.999998167300409	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.07	3.84	0.43422	1.546000	0.35787	2.366000	0.32401	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.2274:0.0:0.7726	7.604	0.27259	899	0.25060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2825.33	35	chr20	49248662	.	T	A	2825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.886;DP=836;ExcessHet=0;FS=1.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.409;SOR=0.808	GT:AD:DP:GQ:PL	0/1:92,98:190:99:2839,0,2795	18	0	1	0
chr20	51516833	51516833	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223C:p.G408A,NFATC2:NM_001258292:exon3:c.G1223C:p.G408A,NFATC2:NM_001258294:exon3:c.G626C:p.G209A,NFATC2:NM_001258295:exon3:c.G626C:p.G209A,NFATC2:NM_001258296:exon3:c.G626C:p.G209A,NFATC2:NM_001258297:exon3:c.G626C:p.G209A,NFATC2:NM_012340:exon3:c.G1283C:p.G428A,NFATC2:NM_173091:exon3:c.G1283C:p.G428A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	292.43	34	chr20	51516833	.	C	G	292.43	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.143;DP=1350;ExcessHet=2.0135;FS=168.437;InbreedingCoeff=-0.1676;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.884;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,10:77:10:.:.:10,0,2029:.	14	0	5	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R,NFATC2:NM_001258292:exon3:c.G1222C:p.G408R,NFATC2:NM_001258294:exon3:c.G625C:p.G209R,NFATC2:NM_001258295:exon3:c.G625C:p.G209R,NFATC2:NM_001258296:exon3:c.G625C:p.G209R,NFATC2:NM_001258297:exon3:c.G625C:p.G209R,NFATC2:NM_012340:exon3:c.G1282C:p.G428R,NFATC2:NM_173091:exon3:c.G1282C:p.G428R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	1005.35	57	chr20	51516834	.	C	G	1005.35	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-1.047;DP=1441;ExcessHet=8.9063;FS=279.737;InbreedingCoeff=-0.4889;MLEAC=12;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.596;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,10:69:11:.:.:11,0,2001:.	4	0	11	4
chr20	54028628	54028628	C	A	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001316361:exon4:c.G487T:p.V163F,BCAS1:NM_001323347:exon4:c.G487T:p.V163F,BCAS1:NM_001366295:exon4:c.G487T:p.V163F,BCAS1:NM_001366296:exon4:c.G487T:p.V163F,BCAS1:NM_001366297:exon4:c.G487T:p.V163F,BCAS1:NM_001366298:exon4:c.G487T:p.V163F,BCAS1:NM_003657:exon4:c.G487T:p.V163F	.	429	1034	56	3	0	62	0.029108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0072	0.0121805	0.0122	0.0023	0.0054	0.0032	0.0023	0.0092	0.0143	0.0435	0.0110542	1709	154602	rs61754122	0.0082	0.0082	0.0068	0.0095	0.0435	0.0080	0.0080	0.0423	0.0419	0.0025	0.0055	0.0216	0.0013	0.0018	0.0244	0.0057	0.0100	0.0435	0.0068	0.0068	0.0064	0.0073	0.0425	0.0065	0.0063	0.0378	0.0359	0.0024	0	0.0058	0.0187	0.0021	0.0023	0.0238	0.0077	0.0085	0.0425	0.012	0.58626	D	0.046	0.49120	D	0.868	0.47740	P	0.32	0.41729	B	0.277183	0.15013	N	0.648898	1	0.08975	N	0.69	0.16971	N	3.3	0.06368	T	-1.09	0.28290	N	0.055	0.03175	-0.9612	0.38955	T	0.007	0.02598	T	10	0.0027716756	0.00043	T	.	.	.	0.067	0.19503	.	.	.	.	0.03992220136706161	0.03938	0.289761338798	0.31384	0.328943371773	0.14774	T	0.021546	0.16761	T	-0.480598	0.00733	T	-0.432422	0.29661	T	0.0165141970174594	0.00415	T	0.69603	0.30552	T	0.05788448	0.11576	0.05855628	0.10839	0.05788448	0.11576	0.05855628	0.10839	-6.569	0.50816	T	.	.	0.094	0.19235	B	.;.;.	.;.;.	1.223381	0.16175	12.37	0.99409088839058579	0.63169	0.09415	0.15175	N	AEFDBCI	0.158754	0.28445	N	-0.719141057650663	0.15484	0.7807461	-0.817846634436971	0.14063	0.7328977	0.999540203599691	0.40300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.87	0.45	0.15835	0.146000	0.16000	0.467000	0.18675	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2632:0.4301:0.0:0.3067	2.756	0.04969	985	0.02828	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021148	0.020202	0.019022	0.017544	0.000000	0.008621	0.030488	0.022727	0.07895	4934.79	37	chr20	54028628	.	C	A	4934.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.163;DP=1008;ExcessHet=0.3672;FS=4.732;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.449;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,52:103:99:.:.:1500,0,1282:.	16	0	3	0
chr20	58713966	58713966	A	C	exonic	NPEPL1	.	nonsynonymous SNV	NPEPL1:NM_024663:exon10:c.A1175C:p.E392A,NPEPL1:NM_001204872:exon11:c.A1091C:p.E364A,NPEPL1:NM_001204873:exon11:c.A1031C:p.E344A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.00857730459547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.34095	T	0.384	0.15794	T	0.008	0.14655	B	0.023	0.19966	B	0.000061	0.52346	D	0.170248	0.975941	0.45323	D	0.475	0.13142	N	0.91	0.44856	T	-2.75	0.58407	D	0.319	0.36989	-1.0819	0.06984	T	0.071	0.29001	T	10	0.28231946	0.45810	T	0.008577	0.22680	T	0.110	0.31079	0.554	0.67133	0.567821670524	0.56447	0.6226477661605637	0.62197	0.234128094816	0.25950	0.474983751774	0.35367	T	0.202911	0.56123	T	-0.110524	0.34681	T	-0.396536	0.33787	T	0.896629929542542	0.54838	D	0.955704	0.83186	D	0.2773344	0.50791	0.19634472	0.43359	0.2773344	0.50791	0.19634472	0.43358	-4.913	0.38180	T	.	.	0.079	0.14062	B	.;.;.	.;.;.	3.108157	0.41911	21.4	0.97937902025342172	0.37006	0.88073	0.47844	D	AEFDGBCI	0.715374	0.66755	D	-0.200607072167161	0.33109	1.874745	-0.00649599446856139	0.39420	2.337073	0.999993505441664	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.67	4.54	0.55220	5.363000	0.65856	6.760000	0.56533	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.8488:0.0:0.0:0.1512	9.953	0.40819	967	0.07127	.;.;Peptidase M17, leucyl aminopeptidase, 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	.	.	.	.	.	.	.	.	0.02632	726.33	37	chr20	58713966	.	A	C	726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.732;DP=742;ExcessHet=0;FS=1.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=0.939;SOR=0.455	GT:AD:DP:GQ:PL	0/1:47,32:79:99:740,0,1279	18	0	1	0
chr20	59864336	59864336	G	A	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon45:c.C4568T:p.S1523F	.	463	1058	1	0	0	1	0.000472367	.	.	.	2272601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0197167676408	.	.	4.779e-05	0	0	0	0	0	0	0.0003	3.88e-05	6	154602	rs768892525	5.505e-06	6.157e-06	2.739e-06	8.298e-06	9.407e-05	2.37e-06	1.71e-06	4.635e-05	3.413e-05	0	0	0	0	0	0	0	0	9.407e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.011	0.64786	D	0.32	0.32998	B	0.192	0.36449	B	0.521454	0.05205	N	1.282320	1	0.08975	N	0.55	0.14455	N	2.43	0.15261	T	-1.08	0.28084	N	0.148	0.17140	-0.9739	0.36366	T	0.028	0.11971	T	10	0.07434583	0.11351	T	0.019717	0.42154	T	0.021	0.04004	0.299	0.26522	0.043077524339	0.03247	0.10289514516777293	0.10219	0.034822333106	0.03667	0.321220219135	0.13606	T	0.12547	0.45120	T	-0.403529	0.02195	T	-0.55299	0.17040	T	0.0804137075007595	0.10040	T	0.427957	0.11563	T	0.059517864	0.12107	0.07400295	0.16143	0.059517864	0.12107	0.07400295	0.16143	-4.829	0.34928	T	.	.	0.189	0.41813	B	.;.	.;.	1.750046	0.22263	15.55	0.88194594402569981	0.17788	0.19065	0.20514	N	AEFI	0.079469	0.16051	N	-0.741783884376183	0.14858	0.7437256	-0.759735376203856	0.15483	0.8145423	5.50943871800372E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.31	0.793	0.17776	0.966000	0.28929	1.369000	0.25941	0.618000	0.50648	0.637000	0.28059	0.319000	0.24313	0.607000	0.31564	0.0788:0.1341:0.5114:0.2757	4.364	0.10653	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	707.33	33	chr20	59864336	.	G	A	707.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.031;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.05;SOR=0.642	GT:AD:DP:GQ:PL	0/1:57,32:89:99:721,0,1439	18	0	1	0
chr20	62281110	62281110	A	G	exonic	OSBPL2	.	nonsynonymous SNV	OSBPL2:NM_001278649:exon8:c.A451G:p.I151V,OSBPL2:NM_014835:exon8:c.A691G:p.I231V,OSBPL2:NM_144498:exon8:c.A727G:p.I243V,OSBPL2:NM_001363878:exon9:c.A451G:p.I151V	Deafness, autosomal dominant 67, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2123206	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.204	0.0196385737366	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs766793194	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31235	T	0.174	0.39645	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.655	0.77738	M	1.05	0.39990	T	-0.92	0.25986	N	0.474	0.51405	-0.5042	0.68497	T	0.268	0.63992	T	10	0.607887	0.67278	D	0.019639	0.42054	T	0.204	0.49076	0.623	0.75803	0.45865379765	0.45492	0.5819008037684601	0.58119	1.17068924489	0.79760	0.673457086086	0.63330	T	0.077043	0.35561	T	-0.036282	0.46500	T	-0.289893	0.45783	T	0.831858277320862	0.48675	D	0.963904	0.87759	D	0.6343265	0.74529	0.49394652	0.70731	0.6343265	0.74530	0.49394652	0.70732	-7.948	0.61587	D	.	.	0.381	0.62816	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.149162	0.62223	24.4	0.99888049177790939	0.96281	0.98646	0.85092	D	AEFDGBI	0.902120	0.84962	D	0.728209500199292	0.81481	7.532449	0.690096830989699	0.81628	7.571002	0.999999967498001	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	7.378000	0.78957	6.879000	0.56809	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	1.0:0.0:0.0:0.0	14.573	0.67819	819	0.41190	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1307.33	34	chr20	62281110	.	A	G	1307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.564;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.218;SOR=0.682	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1321,0,1286	18	0	1	0
chr21	10413724	10413724	C	T	exonic	BAGE;BAGE4	.	nonsynonymous SNV	BAGE:NM_001187:exon1:c.C5T:p.A2V,BAGE4:NM_181704:exon1:c.C5T:p.A2V	.	.	.	.	.	.	.	.	0	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs750289446	6.59e-06	2.601e-05	6.532e-06	6.648e-06	2.405e-05	2.84e-06	2.05e-06	3.99e-06	1.49e-06	0	0	0	0	3.081e-05	0	5.248e-06	0	2.405e-05	1.314e-05	2.628e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	340.33	148	chr21	10413724	.	C	T	340.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.567;DP=2162;ExcessHet=0;FS=1.915;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.72;MQRankSum=0.707;QD=2.84;ReadPosRankSum=-1.024;SOR=0.919	GT:AD:DP:GQ:PL	0/1:97,23:120:99:354,0,2967	18	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	70838.3	366	chr21	13610565	.	G	A	70838.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3;DP=4790;ExcessHet=8.2795;FS=1.103;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-8.431;QD=15.65;ReadPosRankSum=0.808;SOR=0.764	GT:AD:DP:GQ:PL	0/1:172,167:339:99:4325,0,3853	3	3	13	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.5	51549.3	311	chr21	13610631	.	A	G	51549.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.175;DP=3934;ExcessHet=8.2795;FS=4.175;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=50.54;MQRankSum=-13.57;QD=13.93;ReadPosRankSum=0.36;SOR=1.018	GT:AD:DP:GQ:PL	0/1:137,106:243:99:2595,0,3569	3	3	13	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	0/1:92,75:167:99:1614,0,2349	3	5	11	0
chr21	21286370	21286370	A	G	exonic	NCAM2	.	nonsynonymous SNV	NCAM2:NM_001352591:exon4:c.A439G:p.S147G,NCAM2:NM_001352593:exon4:c.A439G:p.S147G,NCAM2:NM_001352594:exon4:c.A439G:p.S147G,NCAM2:NM_001352596:exon4:c.A439G:p.S147G,NCAM2:NM_004540:exon4:c.A439G:p.S147G,NCAM2:NM_001352592:exon5:c.A514G:p.S172G,NCAM2:NM_001352597:exon5:c.A514G:p.S172G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.116240138093	.	.	.	.	.	.	.	.	.	.	.	.	.	rs968910165	2.739e-06	3.42e-06	5.45e-06	0	3.6e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.6e-06	0	0	1.317e-05	1.314e-05	1.287e-05	1.349e-05	2.944e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.944e-05	0	0	0.034	0.44029	D	0.025	0.56640	D	0.982	0.60036	D	0.649	0.52426	P	0.000096	0.51296	D	0.263131	0.986542	0.81001	D	3.14	0.88230	M	-0.48	0.70249	T	-2.12	0.48184	N	0.312	0.35194	-0.1231	0.79562	T	0.448	0.78348	T	10	0.48453078	0.60629	T	0.11624	0.79566	D	0.325	0.64725	0.338	0.32816	0.742938853572	0.74063	0.5511176530257318	0.55037	0.140751882377	0.15877	0.486426979303	0.36944	T	0.213241	0.57450	T	-0.0266087	0.47906	T	-0.260512	0.48774	T	0.802468597888947	0.46521	D	0.871313	0.58582	D	0.5774778	0.71470	0.31578204	0.57563	0.5774778	0.71471	0.31578204	0.57562	-8.527	0.64608	D	.	.	0.259	0.49373	B	.;.	.;.	3.740798	0.53561	23.4	0.99771493869682515	0.85918	0.94030	0.59902	D	AEFBI	0.500733	0.53387	D	0.47668080133198	0.65732	4.859508	0.448884824642678	0.64645	4.724488	0.211828599931261	0.18249	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.05	5.05	0.67566	2.109000	0.41487	9.318000	0.80019	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.624	0.61625	999	0.00169	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	678.33	46	chr21	21286370	.	A	G	678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.342;DP=769;ExcessHet=0;FS=0.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-1.549;SOR=0.544	GT:AD:DP:GQ:PL	0/1:40,30:70:99:692,0,1024	18	0	1	0
chr21	30561268	30561268	A	G	exonic	KRTAP19-7	.	nonsynonymous SNV	KRTAP19-7:NM_181614:exon1:c.T22C:p.Y8H	.	427	1081	14	0	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.00653779836341	0.0002	0.000199681	0.0006	0	0.0003	0	0	0.0003	0.0022	0.0030	0.0005692	88	154602	rs149420565	0.0010	0.0010	0.0009	0.0010	0.0023	0.0009	0.0009	0.0020	0.0019	0.0001	0.0001	0	0	3.744e-05	0.0014	0.0010	0.0009	0.0023	0.0004	0.0004	0.0004	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	0.0002	0	0	0	0	0	0	0.0007	0	0.0017	.	.	.	0.068	0.44106	T	0.986	0.61523	D	0.825	0.59331	P	0.090038	0.20396	U	0.356243	1	0.08975	N	.	.	.	2.85	0.10578	T	-2.48	0.54059	N	0.512	0.54322	-1.1127	0.02848	T	0.054	0.23034	T	9	0.015224546	0.00320	T	0.006538	0.17243	T	0.154	0.40340	.	.	0.260249123532	0.25628	0.051562333499586444	0.05098	0.0229737181384	0.02324	.	.	.	0.165477	0.51134	T	-0.525106	0.00411	T	-0.532293	0.19058	T	0.0906029618730083	0.11290	T	0.326667	0.06741	T	0.8208113	0.85275	0.6365257	0.78777	0.8208113	0.85276	0.6365257	0.78778	-7.915	0.60490	D	.	.	0.232	0.46505	B	.	.	3.112141	0.41986	21.5	0.64902982559230216	0.07622	0.72579	0.35520	D	AEFI	0.081984	0.16595	N	0.0780252900581195	0.45440	2.800405	-0.0696184712169114	0.36653	2.135815	0.00111051512364908	0.08228	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.95	3.95	0.44952	3.923000	0.56182	6.331000	0.55460	0.669000	0.69127	0.907000	0.31601	0.927000	0.28453	0.005000	0.06747	1.0:0.0:0.0:0.0	9.830	0.40101	507	0.75469	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3292.33	34	chr21	30561268	.	A	G	3292.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.831;DP=878;ExcessHet=0;FS=2.186;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.811;SOR=0.543	GT:AD:DP:GQ:PL	0/1:115,129:244:99:3306,0,3145	18	0	1	0
chr21	31560016	31560016	G	C	splicing	LOC150051	NM_001321023:exon2:c.336-1G>C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0011	0.0196	0.0054	0	0	0.0006	0	0	0.000414	64	154602	rs149162435	0.0007	0.0004	0.0009	0.0006	0.0160	0.0007	0.0006	0.0138	0.0130	0.0160	0.0007	0	0	0	0.0040	0.0002	0.0018	0.0001	0.0047	0.0047	0.0049	0.0044	0.0155	0.0044	0.0043	0.0145	0.0141	0.0155	0	0.0024	0	0	0	0.0136	0.0003	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	782.33	33	chr21	31560016	.	G	C	782.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=691;ExcessHet=0;FS=4.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-1.726;SOR=1.309	GT:AD:DP:GQ:PL	0/1:39,29:68:99:796,0,926	18	0	1	0
chr21	32366728	32366728	G	A	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon10:c.C1225T:p.R409W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0053	0.00459265	0.0017	0.0164	0	0	0	0.0001	0	0	0.0004851	75	154602	rs114244127	0.0005	0.0005	0.0005	0.0004	0.0179	0.0005	0.0004	0.0167	0.0162	0.0179	0.0009	0	0	0	0	1.298e-05	0.0010	3.787e-05	0.0046	0.0046	0.0046	0.0047	0.0164	0.0044	0.0042	0.0154	0.0150	0.0164	0	0.0010	0	0	0	0	1.47e-05	0.0038	0.0002	0.024	0.47745	D	0.023	0.57104	D	0.995	0.67487	D	0.332	0.42135	B	0.219838	0.16165	N	0.593502	0.939652	0.26830	N	1.61	0.41143	L	1.44	0.32722	T	-2.23	0.50012	N	0.364	0.40565	-1.0681	0.09836	T	0.034	0.14813	T	10	0.006718576	0.00152	T	.	.	.	0.128	0.35103	.	.	0.207176502487	0.20327	0.33090670721814003	0.33003	.	.	0.357366859913	0.19002	T	0.025243	0.18916	T	-0.427117	0.01543	T	-0.370705	0.36806	T	0.0453823880797565	0.04672	T	0.941906	0.78301	D	0.08349669	0.19283	0.097530484	0.23218	0.08349669	0.19283	0.097530484	0.23217	-6.103	0.47133	T	.	.	0.126	0.26576	B	.	.	4.432991	0.68763	25.3	0.99916059535264168	0.98379	0.91428	0.53513	D	AEFBI	0.572745	0.57620	D	0.384894497807325	0.60604	4.251035	0.442356195111858	0.64228	4.673156	0.999354477338089	0.39259	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	4.54	0.55220	2.733000	0.47032	6.420000	0.55612	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7683:0.2317	13.585	0.61389	931	0.16308	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001241	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2412.33	39	chr21	32366728	.	G	A	2412.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3;DP=839;ExcessHet=0;FS=7.4;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=1.99;SOR=0.673	GT:AD:DP:GQ:PL	0/1:92,89:181:99:2426,0,2256	18	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2032.79	96	chr21	41918930	.	C	G	2032.79	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.78;DP=1565;ExcessHet=17.0548;FS=105.468;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=0.897;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,12:91:74:0|1:41918930_C_G:74,0,2973:41918930	4	0	14	1
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.3889	2022.74	96	chr21	41918931	.	C	G	2022.74	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.847;DP=1558;ExcessHet=17.0548;FS=106.404;InbreedingCoeff=-0.6166;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.13;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,12:91:74:0|1:41918930_C_G:74,0,2973:41918930	4	0	14	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	1945.18	98	chr21	41918933	.	C	G	1945.18	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.313;DP=1548;ExcessHet=17.0548;FS=103.494;InbreedingCoeff=-0.5813;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=1.16;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,12:91:74:0|1:41918930_C_G:74,0,2973:41918930	5	0	14	0
chr21	44637717	44637717	T	0	exonic	KRTAP10-10	.	.	.	.	433	876	177	15	21	228	0.105666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	6951.77	438	chr21	44637717	.	T	*	6951.77	.	AC=7;AF=0.206;AN=34;BaseQRankSum=0.267;DP=6216;ExcessHet=0.0419;FS=0.547;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.235;MQ=59.94;MQRankSum=-0.6;QD=3.99;ReadPosRankSum=-1.613;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:252,157:409:99:.:.:5541,0,9620:.	12	2	3	2
chr21	44637718	44637718	G	0	exonic	KRTAP10-10	.	.	.	.	432	881	177	15	17	224	0.10513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	6950.77	438	chr21	44637718	.	G	*	6950.77	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-1.891;DP=6220;ExcessHet=0.0419;FS=0.547;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.235;MQ=59.94;MQRankSum=-0.6;QD=3.99;ReadPosRankSum=-1.794;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:252,157:409:99:.:.:5541,0,9620:.	12	2	3	2
chr21	44637719	44637719	T	0	exonic	KRTAP10-10	.	.	.	.	1	177	5	0	43	48	0.0139276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	6948.77	438	chr21	44637719	.	T	*	6948.77	.	AC=7;AF=0.206;AN=34;BaseQRankSum=1.59;DP=6228;ExcessHet=0.0419;FS=0.547;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.235;MQ=59.94;MQRankSum=-0.6;QD=3.99;ReadPosRankSum=-1.729;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:252,157:409:99:.:.:5541,0,9620:.	12	2	3	2
chr21	46511510	46511510	C	T	exonic	DIP2A	.	nonsynonymous SNV	DIP2A:NM_001146115:exon7:c.C869T:p.P290L,DIP2A:NM_001353944:exon7:c.C749T:p.P250L,DIP2A:NM_001146116:exon8:c.C986T:p.P329L,DIP2A:NM_001353942:exon8:c.C1001T:p.P334L,DIP2A:NM_001353943:exon8:c.C998T:p.P333L,DIP2A:NM_015151:exon8:c.C998T:p.P333L,DIP2A:NM_206889:exon8:c.C998T:p.P333L,DIP2A:NM_206890:exon8:c.C998T:p.P333L,DIP2A:NM_206891:exon8:c.C998T:p.P333L	.	420	1090	12	0	0	12	0.00547445	.	.	.	3215065	DIP2A-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.150	0.0313655495448	0.0008	0.000599042	0.0008	0.0002	0.0011	0	0.0005	0.0009	0.0025	0.0014	0.0006986	108	154602	rs201955611	0.0005	0.0005	0.0005	0.0006	0.0056	0.0005	0.0005	0.0040	0.0035	0.0003	0.0008	0.0018	2.523e-05	0.0007	0.0056	0.0004	0.0007	0.0013	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0004	0.0005	0.0004	2.405e-05	0	0.0006	0.0029	0	0.0003	0	0.0006	0.0005	0.0010	0.072	0.35537	T	0.047	0.53072	D	0.027	0.21686	B	0.031	0.25278	B	0.000016	0.62929	N	0.069434	0.999997	0.58761	D	2.295	0.65404	M	3.01	0.09075	T	-4.54	0.86073	D	0.414	0.52208	-1.0761	0.08124	T	0.028	0.12014	T	10	0.023014784	0.00590	T	0.031366	0.53467	D	0.150	0.39571	.	.	0.117191471859	0.11215	0.4926527262117567	0.49186	0.910803748371	0.71052	0.458713203669	0.33134	T	0.231246	0.59752	T	-0.490637	0.00644	T	-0.523094	0.19982	T	0.0913932192506496	0.11382	T	0.792821	0.43457	T	0.06356217	0.13397	0.069522865	0.14658	0.06356217	0.13397	0.069522865	0.14657	-9.961	0.74769	D	.	.	0.081	0.10594	B	.;.;.;.;.	.;.;.;.;.	2.125960	0.27065	17.33	0.76005210028885517	0.11296	0.97185	0.73190	D	AEFDBI	0.431272	0.49363	N	-0.615868547784577	0.18467	0.9590107	-0.568762003828735	0.20309	1.093646	0.999997742995741	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	3.61	0.40494	4.997000	0.63662	1.357000	0.25852	-0.800000	0.03169	1.000000	0.71638	0.089000	0.22506	0.005000	0.06747	0.0:0.8525:0.0:0.1475	11.458	0.49439	929	0.16858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.017544	0.000000	0.000000	0.006098	0.000000	0.02632	2108.33	41	chr21	46511510	.	C	T	2108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=814;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=1.87;SOR=0.709	GT:AD:DP:GQ:PL	0/1:66,79:145:99:2122,0,1540	18	0	1	0
chr22	19761000	19761002	CCG	-	exonic	TBX1	.	nonframeshift deletion	TBX1:NM_001379200:exon1:c.157_159del:p.P57del,TBX1:NM_005992:exon3:c.130_132del:p.P48del,TBX1:NM_080646:exon3:c.130_132del:p.P48del,TBX1:NM_080647:exon3:c.130_132del:p.P48del	Conotruncal anomaly face syndrome;DiGeorge syndrome, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Velocardiofacial syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3485742	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369946501	0.0015	0.0040	0.0015	0.0015	0.0033	0.0014	0.0014	0.0014	0.0014	0.0018	0.0033	0.0029	0.0018	0	0.0019	0.0015	0.0014	0.0018	0	3.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	44.57	2	chr22	19760999	.	CCCG	C	44.57	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.549;DP=140;ExcessHet=0;FS=0;InbreedingCoeff=-0.0591;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=4.05;ReadPosRankSum=-0.812;SOR=0.527	GT:AD:DP:GQ:PL	0/1:9,2:11:57:57,0,341	16	0	1	2
chr22	20086252	20086252	C	T	exonic	DGCR8	.	nonsynonymous SNV	DGCR8:NM_001190326:exon2:c.C289T:p.R97C,DGCR8:NM_022720:exon2:c.C289T:p.R97C	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.068722094522	.	.	8.247e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs778992846	3.42e-06	3.42e-06	2.722e-06	4.125e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	0	1.159e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.719	0.65306	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	0.85	0.51228	T	-1.33	0.95897	N	0.857	0.85872	-0.8402	0.52633	T	0.176	0.52084	T	10	0.6164012	0.67730	D	0.068722	0.70530	D	0.344	0.66582	0.555	0.67271	0.690262308853	0.68760	0.4446248113333851	0.44380	1.61877923899	0.89039	0.676112413406	0.63712	T	0.193173	0.54856	T	0.130568	0.67417	D	0.118903	0.78162	D	0.787139926761829	0.45503	D	0.974003	0.90706	D	0.6424117	0.74960	0.23877509	0.49209	0.6424117	0.74961	0.23877509	0.49208	-4.565	0.32297	T	.	.	0.396	0.59375	A	.;.;.;.	.;.;.;.	5.982276	0.94255	34	0.99924056259998084	0.98980	0.89232	0.49573	D	AEFGBCI	.	.	.	0.55579011300668	0.70435	5.501161	0.587924714411306	0.74074	6.075428	0.999999996283812	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.42	4.36	0.51643	5.019000	0.63828	6.081000	0.53348	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.3322:0.6678:0.0:0.0	11.268	0.48355	534	0.73357	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3557.33	37	chr22	20086252	.	C	T	3557.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.989;DP=908;ExcessHet=0;FS=8.222;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.861;SOR=0.617	GT:AD:DP:GQ:PL	0/1:135,144:279:99:3571,0,3152	18	0	1	0
chr22	21213145	21213145	G	A	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon12:c.C955T:p.H319Y	.	724	776	21	1	0	23	0.0146032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.0274	0	.	.	.	0.0408	0	.	0.0002329	36	154602	rs749823869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.998495	0.44993	D	.	.	.	2.83	0.10771	T	-5.62	0.86758	D	0.655	0.66959	-0.9059	0.47343	T	0.098	0.36754	T	7	0.014476687	0.00304	T	.	.	.	0.267	0.58126	.	.	0.196089822672	0.19227	0.9171279389418773	0.91687	3.48735837486	0.99735	.	.	.	.	.	.	-0.0600812	0.42896	T	-0.324079	0.42126	T	0.15975962127015	0.17854	T	0.957904	0.84151	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.64839	A	.;.	.;.	2.301525	0.29447	18.13	0.99395599876748419	0.62565	0.91378	0.53413	D	AEFBI	0.634231	0.61418	D	0.22387535086737	0.52359	3.410485	0.0611488377398172	0.42614	2.580594	0.0577911072514629	0.15105	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.7	1.7	0.23359	8.676000	0.90929	11.422000	0.92717	0.305000	0.19019	1.000000	0.71638	1.000000	0.68203	0.388000	0.26514	0.0:0.0:1.0:0.0	9.401	0.37594	444	0.79803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	44.98	3	chr22	21213145	.	G	A	44.98	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.812;DP=195;ExcessHet=0.119;FS=4.682;InbreedingCoeff=-0.0608;MLEAC=2;MLEAF=0.053;MQ=24.32;MQRankSum=1.3;QD=1.73;ReadPosRankSum=1.09;SOR=0.724	GT:AD:DP:GQ:PL	0/1:14,3:17:35:35,0,359	17	0	2	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3611	1557.51	24	chr22	21216084	.	C	T	1557.51	.	AC=13;AF=0.361;AN=36;BaseQRankSum=2.24;DP=256;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5792;MLEAC=14;MLEAF=0.389;MQ=46.12;MQRankSum=-2.189;QD=9.27;ReadPosRankSum=-0.593;SOR=0.681	GT:AD:DP:GQ:PL	0/1:8,5:13:99:144,0,179	5	0	13	1
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10811.0	92	chr22	23311788	.	T	TCCGG	10811.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.736;DP=1944;ExcessHet=25.4433;FS=20.732;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=55.07;MQRankSum=-7.837;QD=6.32;ReadPosRankSum=-0.502;SOR=2.084	GT:AD:DP:GQ:PL	0/1:109,12:121:99:165,0,4472	3	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1588.18	67	chr22	23311830	.	G	A	1588.18	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.23;DP=1525;ExcessHet=6.9875;FS=13.257;InbreedingCoeff=-0.3449;MLEAC=9;MLEAF=0.237;MQ=57.55;MQRankSum=-9.775;QD=1.61;ReadPosRankSum=-3.64;SOR=2.209	GT:AD:DP:GQ:PL	0/1:96,10:106:7:7,0,2644	9	0	10	0
chr22	26027319	26027319	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon43:c.C7348T:p.R2450W,MYO18B:NM_032608:exon43:c.C7345T:p.R2449W	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	426	1089	7	0	0	7	0.00320366	.	.	.	578584	not_provided|Klippel-Feil_anomaly-myopathy-facial_dysmorphism_syndrome	MedGen:C3661900|MONDO:MONDO:0014689,MedGen:C4225285,OMIM:616549,Orphanet:447974	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.632	0.293313125239	0.0042	0.00219649	0.0049	0.0014	0.0041	0.0001	0.0029	0.0067	0.0022	0.0033	0.0048835	755	154602	rs149103381	0.0057	0.0057	0.0057	0.0057	0.0065	0.0056	0.0056	0.0064	0.0064	0.0006	0.0044	0.0022	7.557e-05	0.0034	0.0029	0.0065	0.0052	0.0035	0.0045	0.0044	0.0049	0.0040	0.0069	0.0042	0.0041	0.0064	0.0062	0.0015	0	0.0047	0.0020	0.0002	0.0034	0	0.0069	0.0066	0.0033	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.000114	0.50451	D	0.000000	0.877567	0.35685	D	1.935	0.51832	L	-3.13	0.92938	D	-4.62	0.79143	D	0.704	0.70790	0.799	0.94404	D	0.805	0.93400	D	10	0.023308277	0.00606	T	0.293313	0.90637	D	0.632	0.85872	.	.	0.93149503283	0.93079	0.5363631325941575	0.53561	0.403975214382	0.41314	0.521508395672	0.41839	T	0.480227	0.80931	T	-0.0663114	0.41914	T	0.135977	0.79282	D	0.0359432094479308	0.02971	T	0.889211	0.62120	D	0.4668643	0.65098	0.41178858	0.65400	0.46537626	0.65006	0.44655162	0.67766	-6.469	0.50046	T	.	.	0.207	0.46960	B	.;.;.	.;.;.	4.662254	0.74425	26.2	0.9991325294484098	0.98238	0.86569	0.45877	D	AEFDBI	0.621542	0.60619	D	0.343025289852147	0.58371	4.009039	0.245234731715821	0.52377	3.413073	0.799939675151461	0.24168	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.17	2.9	0.32809	0.880000	0.27798	2.803000	0.34863	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.716000	0.34643	0.4518:0.5482:0.0:0.0	11.895	0.51932	905	0.23532	.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	9043.33	46	chr22	26027319	.	C	T	9043.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.27;DP=3212;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.582;SOR=0.686	GT:AD:DP:GQ:PL	0/1:420,362:782:99:9057,0,10108	18	0	1	0
chr22	27983386	27983386	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6281C:p.R2094T	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0231807865081	0.0007	0.000998403	0.0010	0.0005	0	0	0	0.0003	0.0083	0.0020	0.000207	32	154602	rs377260379	0.0003	0.0003	0.0002	0.0004	0.0032	0.0003	0.0003	0.0029	0.0028	0	0.0002	0	0	0	0.0032	0.0001	0.0006	0.0032	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0001	0.0021	0.0017	0	0	0.0001	0	0	0	0	0.0002	0	0.0033	0.302	0.14400	T	0.577	0.08654	T	0.0	0.02946	B	0.0	0.01387	B	0.548501	0.11461	N	0.803881	1	0.08975	N	0.69	0.16971	N	-2.28	0.87512	D	-0.44	0.14588	N	0.07	0.04307	-0.8150	0.54244	T	0.355	0.71835	T	10	0.004592091	0.00096	T	0.023181	0.46126	T	0.160	0.41473	.	.	0.180583059064	0.17676	0.14376767185211298	0.14299	.	.	0.28329706192	0.07957	T	0.009892	0.08971	T	-0.44489	0.01210	T	-0.413936	0.31773	T	0.0143549316533981	0.00287	T	0.791921	0.43319	T	0.037152942	0.04707	0.030079847	0.01420	0.037152942	0.04707	0.030079847	0.01420	-3.24	0.12976	T	.	.	0.091	0.13268	B	.;.	.;.	0.108193	0.05080	1.619	0.40473705181674696	0.02858	0.04830	0.10558	N	AEFDBI	0.083431	0.16902	N	-1.23946138824804	0.04440	0.2003889	-1.23273563755565	0.05392	0.2567824	0.956323787447266	0.28241	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.02	0.503	0.16145	0.740000	0.25856	0.861000	0.22228	-0.181000	0.10308	0.000000	0.06391	0.040000	0.21562	0.002000	0.04165	0.0:0.3476:0.0:0.6524	8.177	0.30448	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003521	0.000000	0.000000	0.008772	0.000000	0.071429	0.000000	0.012500	0.02632	2423.33	34	chr22	27983386	.	C	G	2423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.762;DP=1547;ExcessHet=0;FS=1.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.203;SOR=0.858	GT:AD:DP:GQ:PL	0/1:76,88:164:99:2437,0,2039	18	0	1	0
chr22	31138294	31138294	G	A	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon3:c.C764T:p.A255V	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00651682838177	0.0068	0.00319489	0.0056	0.0014	0.0021	0	0.0024	0.0081	0.0023	0.0046	0.0059184	915	154602	rs2232177	0.0078	0.0078	0.0080	0.0075	0.0092	0.0076	0.0076	0.0090	0.0090	0.0012	0.0021	0.0010	5.038e-05	0.0026	0.0009	0.0092	0.0067	0.0048	0.0058	0.0058	0.0061	0.0055	0.0100	0.0055	0.0054	0.0094	0.0092	0.0015	0	0.0046	0.0020	0.0004	0.0032	0.0034	0.0100	0.0043	0.0041	0.045	0.40832	D	0.05	0.48080	T	0.955	0.54515	P	0.207	0.37187	B	0.075601	0.21214	N	0.517109	0.786953	0.29269	N	1.445	0.36358	L	1.52	0.30669	T	-1.44	0.35399	N	0.155	0.16028	-1.0128	0.26038	T	0.034	0.14726	T	10	0.007147819	0.00162	T	0.006517	0.17186	T	0.086	0.25016	.	.	0.402755899245	0.39889	0.5308558618046946	0.53009	0.0701697219036	0.07856	0.32299259305	0.13875	T	0.060158	0.31311	T	-0.594545	0.00157	T	-0.613826	0.11677	T	0.0244192230305814	0.01198	T	0.673133	0.28166	T	0.06705507	0.14487	0.08862533	0.20676	0.06705507	0.14486	0.08862533	0.20676	-2.169	0.03892	T	.	.	0.134	0.29172	B	.	.	2.326465	0.29799	18.24	0.99766298073616921	0.85500	0.54839	0.29715	D	AEFDGBI	0.298124	0.40753	N	-0.158912706399447	0.34856	1.994954	-0.222344496598955	0.30737	1.733233	0.999773503619151	0.42865	0.645754	0.44609	0	0.547309	0.14657	0	0.696144	0.63334	0	0.530356	0.10902	0	.	.	5.4	-2.0	0.07024	0.231000	0.17651	0.599000	0.19904	0.676000	0.76740	0.002000	0.15269	0.108000	0.22760	0.999000	0.91618	0.0715:0.0881:0.1761:0.6643	6.978	0.23866	624	0.65661	.	.	.	.	.	rs2232177	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05263	4222.83	45	chr22	31138294	.	G	A	4222.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.98;DP=999;ExcessHet=0.119;FS=8.422;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.47;SOR=1.086	GT:AD:DP:GQ:PL	0/1:76,83:159:99:2144,0,1708	17	0	2	0
chr22	32358392	32358392	G	C	exonic	RFPL3	.	nonsynonymous SNV	RFPL3:NM_001098535:exon1:c.G321C:p.E107D,RFPL3:NM_006604:exon2:c.G234C:p.E78D	.	429	1091	2	0	0	2	0.000915751	.	.	.	2260388	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.0026306457832	0.0010	.	0.0007	9.619e-05	0.0003	0	0.0002	0.0011	0	0.0003	0.000608	94	154602	rs147326673	0.0009	0.0009	0.0009	0.0009	0.0011	0.0009	0.0009	0.0011	0.0011	2.987e-05	0.0002	0	0	0.0002	0.0005	0.0011	0.0005	0.0005	0.0005	0.0005	0.0005	0.0006	0.0009	0.0004	0.0004	0.0008	0.0007	0.0002	0	0.0004	0	0	9.414e-05	0.0034	0.0009	0	0	0.04	0.42199	D	0.206	0.28032	T	0.999	0.77913	D	0.993	0.81110	D	.	.	.	.	0.999918	0.20516	N	2.47	0.71715	M	0.68	0.51952	T	-1.81	0.42575	N	0.071	0.05414	-0.9258	0.44744	T	0.216	0.57771	T	8	0.052455455	0.05283	T	0.002631	0.05349	T	0.049	0.13647	0.349	0.34598	0.648878273322	0.64596	0.34254046336170835	0.34167	0.699950383056	0.61075	0.530347406864	0.43084	T	0.003521	0.02930	T	-0.476696	0.00774	T	-0.503069	0.22029	T	0.973722517490387	0.70213	D	0.791621	0.43272	T	0.319691	0.54614	0.22696772	0.47692	0.319691	0.54614	0.22696772	0.47691	-5.636	0.43120	T	.	.	0.410	0.62970	A	.;.	.;.	1.633955	0.20861	14.94	0.99713827131844868	0.81563	0.12083	0.17049	N	AEFDI	0.049792	0.08637	N	-0.215393852574871	0.32502	1.833655	-0.475228986796375	0.22838	1.242484	0.0024935129583678	0.09478	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	0.664	0.664	0.17060	0.297000	0.18856	-0.099000	0.11964	0.301000	0.18947	0.002000	0.15269	0.000000	0.08366	0.012000	0.09680	.	.	.	558	0.71484	.;RDM domain, Ret finger protein-like|B30.2/SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2319.33	39	chr22	32358392	.	G	C	2319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.634;DP=927;ExcessHet=0;FS=1.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.961;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,84:170:99:0|1:32358392_G_C:2333,0,3273:32358392	18	0	1	0
chr22	36265596	36265596	G	A	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G706A:p.V236M,APOL1:NM_001362927:exon5:c.G706A:p.V236M,APOL1:NM_001136540:exon6:c.G760A:p.V254M,APOL1:NM_003661:exon6:c.G760A:p.V254M,APOL1:NM_145343:exon7:c.G808A:p.V270M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00272833383836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.915e-07	6.841e-07	0	1.393e-06	9.054e-07	0	0	.	.	0	0	0	0	0	0	9.054e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453	0.09658	T	0.447	0.13066	T	0.011	0.15914	B	0.015	0.17295	B	0.455534	0.04839	N	1.310540	1	0.08975	N	0.06	0.08197	N	3.87	0.03597	T	-0.56	0.17003	N	0.085	0.07949	-0.9162	0.46063	T	0.006	0.01907	T	10	0.07078481	0.10344	T	0.002728	0.05637	T	0.005	0.00259	0.344	0.33788	0.141422826196	0.13715	0.16689316346082952	0.16609	0.0606122278648	0.06739	0.296098083258	0.09821	T	0.010434	0.09426	T	-0.401727	0.02256	T	-0.81483	0.01560	T	0.0221341073133501	0.00924	T	0.712529	0.32403	T	0.014060368	0.00079	0.026984539	0.00821	0.014060368	0.00079	0.026984539	0.00820	-4.61	0.37293	T	.	.	0.161	0.35663	B	.;.;.;.;.	.;.;.;.;.	-1.843740	0.00143	0.002	0.14658076325224523	0.00331	0.00197	0.01136	N	AEFBI	0.151159	0.27558	N	-2.14509269083668	0.00102	0.004351047	-2.19937772366751	0.00112	0.004940398	0.858698444268597	0.25183	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-5.1	0.02691	-1.720000	0.01971	-20.000000	0.00162	-4.445000	0.00029	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2509:0.0:0.478:0.2711	4.390	0.10768	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	196.33	209	chr22	36265596	.	G	A	196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.652;DP=3171;ExcessHet=0;FS=120.004;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=2.48;SOR=7.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,33:216:99:0|1:36265596_G_A:210,0,6934:36265596	18	0	1	0
chr22	36265601	36265601	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G711C:p.R237S,APOL1:NM_001362927:exon5:c.G711C:p.R237S,APOL1:NM_001136540:exon6:c.G765C:p.R255S,APOL1:NM_003661:exon6:c.G765C:p.R255S,APOL1:NM_145343:exon7:c.G813C:p.R271S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000907701874081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.085e-06	0.0006	2.76e-06	1.4e-06	2.728e-06	5.6e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.728e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.30375	T	0.283	0.46632	T	0.002	0.09854	B	0.001	0.04355	B	0.000540	0.00634	N	5.050130	1	0.08975	N	0	0.06538	N	3.93	0.03435	T	-0.32	0.12283	N	0.052	0.05287	-0.9365	0.43164	T	0.006	0.02131	T	10	0.08132845	0.13302	T	9.08E-4	0.00866	T	0.011	0.01250	0.408	0.44230	0.185906805712	0.18197	0.18011142860078055	0.17930	0.0660165172608	0.07365	0.244562089443	0.03216	T	0.00853	0.07826	T	-0.342634	0.05208	T	-0.729947	0.04330	T	0.0890489221116852	0.11104	T	0.716728	0.32905	T	0.07998894	0.18304	0.038347237	0.03684	0.07998894	0.18304	0.038347237	0.03684	-1.822	0.02808	T	.	.	0.273	0.50708	B	.;.;.;.;.	.;.;.;.;.	-2.042542	0.00092	0.002	0.34530247570989991	0.02117	0.00520	0.02423	N	AEFDBI	0.218833	0.34379	N	-1.93437648620656	0.00291	0.01250946	-2.04200221281962	0.00249	0.0109851	0.999770420652857	0.42865	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-6.25	0.01863	-2.263000	0.01256	-8.769000	0.00916	-1.311000	0.01235	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2299:0.2804:0.3507:0.139	1.741	0.02774	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	176.56	224	chr22	36265601	.	G	C	176.56	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-3.442;DP=2775;ExcessHet=0;FS=101.357;InbreedingCoeff=-0.0708;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.38;SOR=9.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,33:223:99:0|1:36265596_G_A:189,0,7257:36265596	15	0	1	3
chr22	36265602	36265602	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G712C:p.E238Q,APOL1:NM_001362927:exon5:c.G712C:p.E238Q,APOL1:NM_001136540:exon6:c.G766C:p.E256Q,APOL1:NM_003661:exon6:c.G766C:p.E256Q,APOL1:NM_145343:exon7:c.G814C:p.E272Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00105143788105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.987e-06	0.0021	6.941e-06	7.033e-06	3.069e-05	3.53e-06	2.58e-06	3.15e-06	2.28e-06	3.069e-05	0	0	0	0	0	7.322e-06	0	1.215e-05	6.573e-06	1.313e-05	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.08	0.40319	T	0.021	0.58613	D	0.997	0.70673	D	0.995	0.83170	D	0.770951	0.06597	N	1.103480	1	0.08975	N	1.78	0.46185	L	3.77	0.03863	T	-1.8	0.42384	N	0.071	0.12055	-1.0427	0.16503	T	0.037	0.15943	T	10	0.28448182	0.46030	T	0.001051	0.01191	T	0.064	0.18567	0.537	0.64730	0.536287059136	0.53279	0.18553903395587315	0.18471	0.376432132591	0.39083	0.258636653423	0.04730	T	0.013777	0.11851	T	-0.329164	0.06175	T	-0.710598	0.05265	T	0.18944376707077	0.19811	T	0.829717	0.49530	T	0.079982	0.18302	0.036119618	0.02995	0.079982	0.18301	0.036119618	0.02994	-3.913	0.22497	T	.	.	0.141	0.30997	B	.;.;.;.;.	.;.;.;.;.	0.324506	0.06990	3.542	0.97952288182257552	0.37114	0.02048	0.06124	N	AEFDBI	0.286931	0.39919	N	-0.558497708475403	0.20218	1.064219	-0.91446621244494	0.11753	0.600673	0.926314169699944	0.26847	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-4.7	0.03051	-0.916000	0.04138	-4.922000	0.01925	-0.978000	0.01909	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4682:0.1714:0.3605:0.0	4.362	0.10642	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	179.33	181	chr22	36265602	.	G	C	179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.726;DP=2902;ExcessHet=0;FS=125.609;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=2.42;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,34:225:99:0|1:36265596_G_A:193,0,7276:36265596	18	0	1	0
chr22	36265604	36265604	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G714C:p.E238D,APOL1:NM_001362927:exon5:c.G714C:p.E238D,APOL1:NM_001136540:exon6:c.G768C:p.E256D,APOL1:NM_003661:exon6:c.G768C:p.E256D,APOL1:NM_145343:exon7:c.G816C:p.E272D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00111242078578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.196	0.28860	T	0.992	0.64738	D	0.989	0.78396	D	0.770951	0.06597	N	1.103480	1	0.08975	N	1.665	0.42610	L	3.83	0.03702	T	-1.87	0.43717	N	0.092	0.11483	-1.0243	0.22311	T	0.022	0.09421	T	10	0.27728033	0.45294	T	0.001112	0.01336	T	0.082	0.23913	0.507	0.60232	0.53906709209	0.53559	0.16556427240615473	0.16476	0.360721973955	0.37738	0.259047538042	0.04778	T	0.012596	0.11043	T	-0.333464	0.05853	T	-0.716774	0.04953	T	0.245490476489067	0.22670	T	0.777122	0.41012	T	0.06793174	0.14756	0.04626168	0.06409	0.06793174	0.14756	0.04626168	0.06409	-3.75	0.20954	T	.	.	0.137	0.29779	B	.;.;.;.;.	.;.;.;.;.	0.291250	0.06675	3.178	0.98905130924322504	0.48254	0.01941	0.05908	N	AEFDBI	0.220069	0.34487	N	-0.670268106369882	0.16873	0.8634436	-1.02054216251253	0.09334	0.4637797	0.994276953357058	0.33564	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-6.25	0.01863	-0.470000	0.06717	-7.429000	0.01158	-1.187000	0.01379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.341:0.3049:0.2002:0.1539	0.870	0.01134	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03333	184.04	181	chr22	36265604	.	G	C	184.04	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-4.134;DP=2746;ExcessHet=0;FS=112.977;InbreedingCoeff=-0.086;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=1.43;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,34:224:99:0|1:36265596_G_A:196,0,7238:36265596	14	0	1	4
chr22	37566495	37566495	T	C	exonic	CDC42EP1	.	nonsynonymous SNV	CDC42EP1:NM_152243:exon2:c.T146C:p.M49T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.837	0.103505193463	.	.	8.577e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs753729994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.275	0.64647	M	-2.02	0.85542	D	-5.48	0.89029	D	0.854	0.85027	0.432	0.89566	D	0.713	0.90134	D	10	0.8980193	0.89159	D	0.103505	0.77758	D	0.837	0.94877	0.651	0.78858	0.834668003253	0.83309	0.5031232706162783	0.50234	0.321740395883	0.34373	0.871510386467	0.92783	D	0.743715	0.92923	D	0.302887	0.83198	D	0.366428	0.90941	D	0.984610736370087	0.75865	D	0.822018	0.75346	T	0.8633028	0.88338	0.8655959	0.92562	0.8633028	0.88340	0.8655959	0.92562	-12.234	0.85972	D	.	.	0.955	0.87497	P	.;.;.	.;.;.	4.373537	0.67350	25.1	0.98260059176625625	0.39658	0.96304	0.68486	D	AEFDGBHCI	0.891176	0.82690	D	0.642299795506663	0.75873	6.38322	0.612702581098961	0.75862	6.386152	0.999999999999683	0.74766	0.722319	0.85440	0	0.607795	0.50457	0	0.570548	0.19454	0	0.735409	0.98432	0	.	.	4.99	4.99	0.65942	5.105000	0.64427	7.808000	0.69345	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	14.989	0.71024	952	0.10565	CRIB domain|CRIB domain|CRIB domain|CRIB domain;CRIB domain|CRIB domain;CRIB domain|CRIB 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	.	.	.	.	.	.	.	.	0.02632	1256.33	33	chr22	37566495	.	T	C	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.345;DP=758;ExcessHet=0;FS=0.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.655;SOR=0.801	GT:AD:DP:GQ:PL	0/1:55,56:111:99:1270,0,1303	18	0	1	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	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	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.1667	3393.89	35	chr22	42128812	.	A	G	3393.89	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-0.086;DP=2055;ExcessHet=2.1469;FS=9.869;InbreedingCoeff=-0.2;MLEAC=6;MLEAF=0.167;MQ=52.6;MQRankSum=-7.41;QD=2.56;ReadPosRankSum=-3.691;SOR=2.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,34:234:99:0|1:42128812_A_G:788,0,8270:42128812	12	0	6	1
chr22	49884936	49884936	C	T	exonic	ZBED4	.	nonsynonymous SNV	ZBED4:NM_014838:exon2:c.C1274T:p.A425V	.	426	1039	54	3	0	60	0.0280636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0036	0.00399361	0.0050	0.0012	0.0048	0	0.0014	0.0052	0.0112	0.0108	0.0047606	736	154602	rs146411541	0.0044	0.0044	0.0040	0.0047	0.0234	0.0043	0.0042	0.0202	0.0190	0.0013	0.0044	0.0203	5.043e-05	0.0007	0.0234	0.0037	0.0067	0.0105	0.0037	0.0037	0.0036	0.0038	0.0104	0.0034	0.0033	0.0081	0.0073	0.0010	0	0.0053	0.0196	0	0.0014	0.0102	0.0043	0.0071	0.0104	0.639	0.05017	T	0.486	0.11691	T	0.0	0.02946	B	0.0	0.01387	B	0.625807	0.10734	N	0.810413	1	0.08975	N	-1.39	0.00611	N	0.97	0.42502	T	-0.11	0.08653	N	0.043	0.01577	-0.9929	0.31853	T	0.018	0.07329	T	10	0.002109021	0.00030	T	.	.	.	0.010	0.01040	.	.	0.043077524339	0.03247	0.14576151107688307	0.14499	0.416527251118	0.42292	0.305198401213	0.11181	T	0.022249	0.17186	T	-0.703328	0.00035	T	-0.775382	0.02595	T	0.000719385774239782	0.00007	T	0.331767	0.06954	T	0.012989459	0.00046	0.023819037	0.00395	0.012989459	0.00046	0.023819037	0.00395	-3.132	0.11668	T	.	.	0.064	0.01577	B	.	.	-0.973239	0.00810	0.027	0.27354374797518821	0.01354	0.00434	0.02127	N	AEFBI	0.015799	0.00319	N	-1.86894502346642	0.00397	0.01708544	-1.83612183965624	0.00650	0.02891738	0.935458911534085	0.27214	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.6	-3.87	0.03939	-0.396000	0.07338	-1.679000	0.04930	-1.577000	0.00925	0.001000	0.13787	0.000000	0.08366	0.029000	0.12982	0.0:0.38:0.1225:0.4976	6.952	0.23732	974	0.05496	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.017623	0.020202	0.021739	0.014620	0.000000	0.025862	0.009146	0.007576	0.02632	1403.33	91	chr22	49884936	.	C	T	1403.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.164;DP=1823;ExcessHet=0;FS=1.436;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.583;SOR=0.571	GT:AD:DP:GQ:PL	0/1:66,55:121:99:1417,0,1733	18	0	1	0
chr22	50041808	50041808	C	G	splicing	TTLL8	NM_001350317:exon9:c.752-1G>C	.	.	.	428	1084	10	0	0	10	0.00459137	0.9999	0.792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0030	0	0	0	0	6.398e-05	0.0017	0.0204	0.0020957	324	154602	rs201710741	0.0013	0.0011	0.0007	0.0019	0.0178	0.0013	0.0012	0.0171	0.0168	7.655e-05	0	0.0005	6.018e-05	0	0.0020	3.994e-05	0.0014	0.0178	0.0008	0.0008	0.0004	0.0011	0.0211	0.0006	0.0006	0.0178	0.0166	0	0	6.534e-05	0.0006	0	0	0	0.0001	0.0005	0.0211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.384957	0.02898	T	-0.312115	0.43432	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.156266	0.62380	24.5	0.91656418955500218	0.20945	0.46944	0.27872	N	AEFGBI	.	.	.	0.529829313086846	0.68862	5.276003	0.241925493032905	0.52192	3.395633	0.0177378123217748	0.12983	0.056701	0.00814	0	0.059962	0.00310	0	0.074216	0.02223	0	0.062806	0.01542	0	0.247906	0.32538	4.36	3.34	0.37357	4.734000	0.61738	6.952000	0.57027	0.544000	0.25403	0.997000	0.40164	1.000000	0.68203	0.110000	0.18741	0.1726:0.7329:0.0:0.0946	7.030	0.24139	946	0.12043	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	508.33	28	chr22	50041808	.	C	G	508.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.548;DP=607;ExcessHet=0;FS=6.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.504;SOR=2.093	GT:AD:DP:GQ:PL	0/1:16,17:33:99:522,0,402	18	0	1	0
chr22	50505119	50505119	T	C	exonic	LMF2	.	nonsynonymous SNV	LMF2:NM_001363816:exon9:c.A1117G:p.S373G,LMF2:NM_033200:exon9:c.A1192G:p.S398G	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00933543332947	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190269483	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13479	T	0.323	0.18959	T	0.007	0.30426	B	0.011	0.33328	B	0.152514	0.17920	N	0.626147	1	0.08975	N	1.39	0.34934	L	1.91	0.23486	T	-1.29	0.32387	N	0.164	0.17278	-1.0297	0.20551	T	0.040	0.17149	T	10	0.09777361	0.17631	T	0.009335	0.24483	T	0.087	0.25287	0.557	0.67547	0.0297737177859	0.01360	0.5726064847305531	0.57188	.	.	0.280826508999	0.07607	T	0.032627	0.22570	T	-0.189815	0.22284	T	-0.510432	0.21270	T	0.024220969980584	0.01173	T	0.49565	0.15376	T	0.030756617	0.02793	0.03341026	0.02231	0.030756617	0.02793	0.03341026	0.02231	-0.815	0.00864	T	.	.	0.059	0.00767	B	.;.	.;.	1.484007	0.19096	14.09	0.86929354995319519	0.16870	0.36047	0.25443	N	AEFBI	0.242708	0.36411	N	-0.705817039651973	0.15857	0.8029181	-0.714192440362203	0.16608	0.8793545	0.999620618505158	0.41093	0.706548	0.73137	0	0.697927	0.68747	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.85	0.881	0.18301	0.538000	0.22869	0.053000	0.14027	0.647000	0.52776	0.000000	0.06391	0.000000	0.08366	0.428000	0.27405	0.4838:0.1347:0.0:0.3814	4.598	0.11732	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	1910.33	34	chr22	50505119	.	T	C	1910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.096;DP=1030;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.9;SOR=0.717	GT:AD:DP:GQ:PL	0/1:86,83:169:99:1924,0,2267	18	0	1	0
chr22	50549274	50549274	G	A	exonic	KLHDC7B	.	nonsynonymous SNV	KLHDC7B:NM_138433:exon1:c.G3031A:p.V1011I	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0282156473234	7.7e-05	0.000199681	0.0003	0	0	0	0	7.987e-05	0.0012	0.0018	0.0002329	36	154602	rs375448641	0.0002	0.0002	9.547e-05	0.0002	0.0015	0.0001	0.0001	0.0013	0.0012	0	0	0	0	0	0.0002	7.644e-05	0.0002	0.0015	0.0001	0.0001	7.709e-05	0.0001	0.0021	7.085e-05	5.743e-05	0.0011	0.0009	0	0	0	0	0	0	0	0.0001	0	0.0021	0.17	0.22833	T	0.38	0.15988	T	0.047	0.21998	B	0.018	0.18489	B	0.109194	0.19495	U	0.263653	0.999999	0.08975	N	1.365	0.34158	L	-1.15	0.77964	T	-0.53	0.16393	N	0.053	0.02462	-0.8392	0.52700	T	0.300	0.67166	T	10	0.009999335	0.00224	T	0.028216	0.50927	D	0.113	0.31778	.	.	0.50557994651	0.50197	0.3282867954535646	0.32741	.	.	0.32781624794	0.14604	T	0.111329	0.42674	T	-0.510801	0.00497	T	-0.525521	0.19737	T	0.0209076996866797	0.00791	T	0.410359	0.10588	T	0.031081812	0.02884	0.05293607	0.08818	0.031081812	0.02884	0.05293607	0.08818	-4.63	0.32546	T	.	.	0.084	0.09627	B	.;.	.;.	0.927972	0.13033	9.535	0.95145052756597071	0.26270	0.06976	0.13002	N	AEFDGBCIJ	0.062590	0.12042	N	-0.778766022541437	0.13865	0.686161	-0.804183266077133	0.14395	0.751885	0.99998661749399	0.51787	0.542737	0.22433	0	0.685571	0.66316	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	5.35	-0.428	0.11693	-0.152000	0.10145	0.445000	0.18464	-0.185000	0.09859	0.000000	0.06391	0.009000	0.19889	0.698000	0.34080	0.4906:0.0:0.5094:0.0	8.898	0.34638	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	3114.33	34	chr22	50549274	.	G	A	3114.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=969;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.02;SOR=0.684	GT:AD:DP:GQ:PL	0/1:121,125:246:99:3128,0,2840	18	0	1	0
chrX	6533750	6533750	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G556A:p.V186M	.	434	1062	26	0	0	26	0.012093	.	.	.	3886662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	.	.	0.0109	0.0078	0.0053	0	0.0141	0.0140	0.0103	0.0102	0.0002135	33	154602	rs74393938	0.0014	0.0055	0.0019	0.0003	0.0017	0.0013	0.0013	0.0014	0.0013	0.0008	0.0008	0.0047	0.0002	0.0033	0.0003	0.0012	0.0022	0.0017	0.0030	0.0069	0.0041	0	0.0035	0.0027	0.0026	0.0028	0.0026	0.0035	0	0.0018	0.0029	0.0003	0.0071	0	0.0028	0.0055	0.0017	0.0	0.91255	D	0.101	0.38596	T	0.982	0.60036	D	0.729	0.55225	P	.	.	.	.	0.999973	0.19072	N	0.695	0.17993	N	1.91	0.23283	T	0.14	0.05405	N	0.075	0.25867	-1.0439	0.16148	T	0.046	0.19800	T	8	0.0052250326	0.00114	T	.	.	.	0.057	0.16321	.	.	.	.	0.010725019350369076	0.01033	0.268142659766	0.29341	0.496027678251	0.38275	T	0.001791	0.01214	T	-0.39512	0.02492	T	-0.805339	0.01772	T	0.0207467507570982	0.00774	T	0.432757	0.11777	T	0.15995844	0.35904	0.15014142	0.35422	0.15995844	0.35904	0.15014142	0.35422	-4.895	0.35678	T	.	.	0.144	0.33573	B	.;.;.	.;.;.	0.449974	0.08202	4.937	0.85326322252058417	0.15823	0.04088	0.09549	N	AEFI	.	.	.	.	.	.	.	.	.	7.46993312473294E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.463	0.15912	-0.735000	0.04992	0.109000	0.14755	0.173000	0.17773	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.075304	0.057692	0.100935	0.063953	0.000000	0.048193	0.057292	0.040462	0.1176	5637.54	723	chrX	6533750	.	C	T	5637.54	.	AC=4;AF=0.118;AN=34;BaseQRankSum=3.19;DP=3635;ExcessHet=0.7564;FS=9.728;InbreedingCoeff=-0.1515;MLEAC=4;MLEAF=0.118;MQ=51.79;MQRankSum=-5.382;QD=3.53;ReadPosRankSum=-3.114;SOR=1.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,58:322:99:0|1:6533736_G_C:1556,0,10911:6533736	13	0	4	2
chrX	6533758	6533758	-	GTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.547_548insCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAAC:p.E182_L183insPLSQESQVEEPLSQESEMEE	.	425	1048	35	4	10	53	0.0201029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0059	0.0058	0.0016	0.0098	0.0043	0.0043	0.0088	0.0085	0.0014	0.0046	0.0098	0.0098	0.0174	0.0058	0.0036	0.0063	0.0023	0.0017	0.0036	0.0022	0.0003	0.0021	0.0015	0.0014	0.0018	0.0016	0.0007	0	0.0020	0.0041	0.0021	0.0012	0.0104	0.0021	0.0030	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	15349.3	541	chrX	6533758	.	A	AGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	15349.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.553;DP=3391;ExcessHet=1.3;FS=51.291;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=50.75;MQRankSum=-0.745;QD=16.7;ReadPosRankSum=3.74;SOR=1.95	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,97:175:99:.:.:3620,0,2891:.	14	0	5	0
chrX	8466126	8466215	GAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.484_573del:p.E169_S198del	.	573	905	12	5	27	49	0.0120087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0099	0.0021	0.0061	0.0003	0.0005	0	0.0013	3.84e-05	1	26028	.	0.0037	0.0043	0.0046	0.0012	0.0412	0.0036	0.0036	0.0387	0.0377	0.0127	0.0412	0.0042	0.0227	0.0085	0.0074	0.0016	0.0073	0.0067	0.0085	0.0086	0.0103	0.0001	0.0528	0.0077	0.0074	0.0384	0.0335	0.0377	0	0.0279	0.0007	0.0528	0.0031	0	0.0034	0.0021	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	3348.83	6	chrX	8466125	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	G	3348.83	.	AC=5;AF=0.139;AN=36;BaseQRankSum=2.44;DP=763;ExcessHet=0;FS=1.892;InbreedingCoeff=0.5813;MLEAC=4;MLEAF=0.111;MQ=43.64;MQRankSum=0.774;QD=9.82;ReadPosRankSum=0.111;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:13,80:93:50:.:.:2510,50,0:.	15	2	1	1
chrX	8466215	8466215	A	0	exonic	VCX3B	.	.	.	.	689	655	115	37	26	215	0.126084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	118.47	111	chrX	8466215	.	A	*	118.47	.	AC=4;AF=0.154;AN=26;BaseQRankSum=0.485;DP=1426;ExcessHet=0.0188;FS=4.828;InbreedingCoeff=0.3977;MLEAC=5;MLEAF=0.192;MQ=42.76;MQRankSum=-1.282;QD=0.44;ReadPosRankSum=-0.524;SOR=0.973	GT:AD:DP:GQ:PL	1/1:13,80:93:50:2510,50,0	11	2	0	6
chrX	55146088	55146088	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C347A:p.T116K,FAM104B:NM_001166701:exon3:c.C344A:p.T115K,FAM104B:NM_001166702:exon3:c.C335A:p.T112K,FAM104B:NM_001166703:exon3:c.C341A:p.T114K	.	389	931	201	1	0	203	0.0983051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	4403.4	547	chrX	55146088	.	G	T	4403.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.5;DP=11340;ExcessHet=2.0135;FS=0;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.409;SOR=0.729	GT:AD:DP:GQ:PL	0/1:535,61:596:45:45,0,17734	13	0	6	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6053	329440.0	742	chrX	55146104	.	G	A	329440.0	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.47;DP=13074;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=0.694;SOR=0.726	GT:AD:DP:GQ:PL	0/1:90,545:635:99:17631,0,723	0	4	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3529	32831.5	791	chrX	55146139	.	G	A	32831.5	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.454;DP=12869;ExcessHet=11.1788;FS=0;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=0.955;SOR=0.672	GT:AD:DP:GQ:PL	0/1:453,209:662:99:4389,0,12841	5	0	12	2
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3684	42799.2	721	chrX	55146173	.	G	A	42799.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.643;DP=12126;ExcessHet=17.0548;FS=0.637;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.029;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:458,208:666:99:.:.:4396,0,13663:.	5	0	14	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.3889	38022.8	651	chrX	55146197	.	G	A	38022.8	.	AC=14;AF=0.389;AN=36;BaseQRankSum=1.95;DP=10894;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.79;ReadPosRankSum=-0.18;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:392,170:562:99:.:.:3701,0,12213:.	4	0	14	1
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	248356.0	575	chrX	55146212	.	C	T	248356.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.62;DP=10110;ExcessHet=48.2876;FS=1.42;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26;ReadPosRankSum=1.35;SOR=0.54	GT:AD:DP:GQ:PL	0/1:77,432:509:99:15361,0,740	0	0	19	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.3684	25836.2	418	chrX	55146247	.	G	C	25836.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.026;DP=7388;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=0.405;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:268,110:378:99:0|1:55146247_G_C:3614,0,10669:55146247	5	0	14	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	25152.2	407	chrX	55146252	.	A	AT	25152.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.19;DP=7127;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.184;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,103:356:99:0|1:55146247_G_C:3439,0,10198:55146247	5	0	14	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:154,184:338:99:5608,0,5608	0	0	19	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	24097.2	397	chrX	55146255	.	TG	T	24097.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.27;DP=6566;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.283;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,94:335:99:0|1:55146247_G_C:3222,0,9837:55146247	5	0	14	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:46,212:258:99:7452,0,1115	0	0	19	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2647	7637.88	285	chrX	55146283	.	C	T	7637.88	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-0.157;DP=4808;ExcessHet=5.3738;FS=4.353;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.294;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=-1.518;SOR=1.047	GT:AD:DP:GQ:PL	0/1:188,25:213:99:197,0,6087	8	0	9	2
chrX	66605117	66605117	A	T	exonic	EDA2R	.	nonsynonymous SNV	EDA2R:NM_001242310:exon2:c.T197A:p.V66D,EDA2R:NM_001199687:exon3:c.T197A:p.V66D,EDA2R:NM_001324201:exon3:c.T181A:p.S61T,EDA2R:NM_001324206:exon3:c.T197A:p.V66D,EDA2R:NM_021783:exon3:c.T197A:p.V66D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.217742393709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.007	0.69154	D	0.834	0.77913	P	0.787	0.75477	P	0.171800	0.17353	N	0.458110	0.99999	0.81001	D	2.075	0.57047	M	-2.77	0.90904	D	-3.63	0.70920	D	0.376	0.48504	0.307	0.87674	D	0.752	0.91536	D	10	0.6016788	0.66948	D	0.217742	0.87623	D	0.628	0.85666	0.513	0.61153	0.992581333496	0.99249	0.4705804984029318	0.46977	.	.	0.558829367161	0.47103	T	0.599307	0.87135	D	0.134669	0.67813	D	-0.0443335	0.67408	D	0.948701368185298	0.62953	D	0.90421	0.67676	D	0.6820225	0.77079	0.6078765	0.77198	0.6820225	0.77080	0.6078765	0.77199	-10.369	0.76091	D	.	.	0.659	0.73284	P	.;.;.;.	.;.;.;.	4.130639	0.61814	24.4	0.98269518952595203	0.39750	0.91755	0.54194	D	AEFBI	.	.	.	.	.	.	.	.	.	0.98789725464663	0.31366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.9	3.9	0.44240	6.780000	0.74837	8.891000	0.78356	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	9.826	0.40082	458	0.78890	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumor necrosis factor receptor 27, N-terminal;.;TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumor necrosis factor receptor 27, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1750.81	36	chrX	66605117	.	A	T	1750.81	.	AC=2;AF=0.053;AN=38;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.67;SOR=0.726	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1778,177,0	18	1	0	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L,RLIM:NM_183353:exon5:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	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	0.035865	0.095238	0.024119	0.019763	0.071429	0.035294	0.044248	0.026316	0.07895	199.58	36	chrX	74591813	.	G	A	199.58	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.187;DP=969;ExcessHet=0.3672;FS=3.814;InbreedingCoeff=-0.068;MLEAC=1;MLEAF=0.026;MQ=59.05;MQRankSum=-5.91;QD=0.95;ReadPosRankSum=-2.383;SOR=1.197	GT:AD:DP:GQ:PL	0/1:59,12:71:99:211,0,2024	16	0	3	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.1842	3092.38	36	chrX	74591904	.	A	G	3092.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.755;DP=1934;ExcessHet=2.9153;FS=4.408;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.76;MQRankSum=-11.41;QD=2.06;ReadPosRankSum=3.45;SOR=0.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,39:198:99:0|1:74591902_T_A:1159,0,6559:74591902	12	0	7	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N,RLIM:NM_183353:exon5:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	10	1315	197	0	0	197	0.0696852	.	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004828	0.013605	0.001855	0.007905	0.000000	0.000000	0.008850	0.000000	0.07895	1192.79	36	chrX	74591957	.	C	T	1192.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.316;DP=1805;ExcessHet=0.3672;FS=5.198;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.13;MQRankSum=-13.17;QD=1.86;ReadPosRankSum=-2.357;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,33:230:99:0|1:74591902_T_A:793,0,8143:74591902	16	0	3	0
chrX	79171270	79171270	C	A	exonic	GPR174	.	nonsynonymous SNV	GPR174:NM_032553:exon3:c.C263A:p.P88H	.	431	1072	8	11	0	30	0.0137994	.	.	.	3192389	GPR174-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.082	0.00898659524547	0.0014	0.0010596	0.0022	0.0007	0.0012	0	0.0005	0.0027	0	0.0046	0.0021992	340	154602	rs147721174	0.0029	0.0029	0.0029	0.0030	0.0065	0.0029	0.0028	0.0046	0.0040	0.0005	0.0018	0.0004	3.315e-05	0.0005	0.0065	0.0032	0.0028	0.0043	0.0019	0.0019	0.0020	0.0015	0.0031	0.0016	0.0016	0.0027	0.0025	0.0005	0	0.0016	0.0004	0	0.0003	0	0.0031	0.0013	0.0030	0.14	0.25664	T	0.141	0.33442	T	0.0	0.02946	B	0.003	0.08700	B	0.978483	0.08110	N	0.990227	1	0.08975	N	-0.29	0.03673	N	-0.62	0.71895	T	0.33	0.03889	N	0.057	0.02861	-0.9286	0.44342	T	0.181	0.52843	T	10	0.007401705	0.00168	T	0.008987	0.23678	T	0.082	0.23913	.	.	0.161926535498	0.15789	0.6680447524467892	0.66742	0.294491625161	0.31871	0.389591693878	0.23612	T	0.005212	0.04657	T	-0.580106	0.00192	T	-0.606203	0.12296	T	0.0021638483810557	0.00022	T	0.639636	0.25265	T	0.20237204	0.42280	0.16100536	0.37472	0.20237204	0.42280	0.16100536	0.37471	-3.426	0.15408	T	.	.	0.158	0.36928	B	.;.	.;.	0.990417	0.13686	10.22	0.87387625887651899	0.17191	0.02742	0.07419	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999065652146942	0.38343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.08	3.04	0.34171	1.121000	0.30897	0.159000	0.15383	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.979000	0.57723	0.398:0.4773:0.1247:0.0	7.885	0.28805	663	0.61610	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	1	0	0.004135	0.000000	0.005566	0.003953	0.000000	0.000000	0.004425	0.005263	0.05263	5892.81	76	chrX	79171270	.	C	A	5892.81	.	AC=2;AF=0.053;AN=38;DP=1294;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.51;SOR=0.816	GT:AD:DP:GQ:PL	1/1:0,187:187:99:5920,561,0	18	1	0	0
chrX	86148727	86148727	C	T	exonic	DACH2	.	nonsynonymous SNV	DACH2:NM_001139514:exon1:c.C107T:p.P36L,DACH2:NM_053281:exon1:c.C107T:p.P36L	.	427	1087	4	4	0	12	0.00548948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.207497364324	0.0013	0.000264901	0.0012	0.0003	0.0006	0	0.0003	0.0018	0.0039	0.0014	0.0009961	154	154602	rs147377892	0.0012	0.0013	0.0012	0.0013	0.0131	0.0012	0.0012	0.0103	0.0093	0.0002	0.0007	0.0003	0	0	0.0131	0.0014	0.0014	0.0010	0.0008	0.0008	0.0010	0.0004	0.0013	0.0007	0.0006	0.0010	0.0009	0.0001	0	0.0010	0	0	0	0.0093	0.0013	0.0013	0.0012	0.003	0.68238	D	0.661	0.14771	T	0.008	0.15535	B	0.009	0.17295	B	0.000166	0.48594	D	0.000000	1	0.81001	D	2.3	0.65703	M	-2.46	0.88924	D	-2.24	0.50175	N	0.101	0.08366	0.037	0.82994	D	0.606	0.86004	D	10	0.024837911	0.00698	T	0.207497	0.87096	D	0.420	0.72930	.	.	0.647293358273	0.64436	0.657185768473161	0.65655	0.15503215024	0.17510	0.48172044754	0.36294	T	0.27271	0.64511	T	-0.337842	0.05539	T	-0.277077	0.47104	T	0.0669084787368774	0.08211	T	0.789921	0.43036	T	0.1234794	0.28993	0.2296988	0.48049	0.1234794	0.28993	0.2296988	0.48048	-3.629	0.19614	T	.	.	0.122	0.25396	B	.;.	.;.	3.074515	0.41339	21.3	0.99574109357553653	0.72561	0.85689	0.44849	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999919883216797	0.45857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.49	4.49	0.54177	3.838000	0.55532	3.708000	0.39547	0.545000	0.25583	1.000000	0.71638	0.999000	0.35428	0.113000	0.18872	0.0:0.908:0.0:0.092	11.056	0.47136	949	0.11373	.;.	.	.	.	.	.	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	0.007586	0.000000	0.003711	0.015810	0.071429	0.035294	0.004425	0.000000	0.07895	4764.77	133	chrX	86148727	.	C	T	4764.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.76;DP=821;ExcessHet=0;FS=0.565;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.37;ReadPosRankSum=0.851;SOR=0.63	GT:AD:DP:GQ:PL	1/1:1,89:90:99:2916,260,0	17	1	1	0
chrX	87518282	87518282	T	C	exonic	KLHL4	.	nonsynonymous SNV	KLHL4:NM_019117:exon1:c.T389C:p.M130T,KLHL4:NM_057162:exon1:c.T389C:p.M130T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0210089838883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.114e-07	9.105e-07	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.553	0.06523	T	0.569	0.08839	T	0.003	0.11197	B	0.009	0.14300	B	0.065957	0.02194	N	2.050070	0.914638	0.27431	N	1.7	0.43825	L	-0.72	0.72994	T	-0.36	0.13035	N	0.102	0.14480	-0.9463	0.41599	T	0.183	0.53163	T	10	0.10404888	0.19163	T	0.021009	0.43710	T	0.115	0.32236	0.301	0.26843	0.506864653165	0.50326	0.3126285646563701	0.31175	0.335580065157	0.35557	0.586653590202	0.51023	T	0.020286	0.16003	T	-0.17625	0.24296	T	-0.490947	0.23291	T	0.0359042529676456	0.02964	T	0.470853	0.13943	T	0.1401861	0.32354	0.11532211	0.27838	0.1401861	0.32354	0.11532211	0.27837	-2.478	0.05633	T	.	.	0.080	0.14062	B	.;.	.;.	1.125122	0.15109	11.60	0.61114378984770168	0.06629	0.78877	0.38984	D	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999994803461324	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.05	2.54	0.29674	0.841000	0.27267	2.410000	0.32637	0.587000	0.30956	0.999000	0.42656	1.000000	0.68203	0.961000	0.51904	0.1523:0.0:0.1557:0.692	6.820	0.23036	974	0.05496	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2624.81	35	chrX	87518282	.	T	C	2624.81	.	AC=2;AF=0.053;AN=38;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.22;SOR=0.852	GT:AD:DP:GQ:PL	1/1:0,93:93:99:2652,279,0	18	1	0	0
chrX	129576514	129576514	C	-	exonic	OCRL	.	frameshift deletion	OCRL:NM_000276:exon18:c.2077delC:p.P693Qfs*11,OCRL:NM_001318784:exon18:c.2080delC:p.P694Qfs*11,OCRL:NM_001587:exon18:c.2077delC:p.P693Qfs*11	Dent disease 2, X-linked recessive;Lowe syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2101.77	34	chrX	129576513	.	AC	A	2101.77	.	AC=2;AF=0.053;AN=38;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.38;SOR=1.569	GT:AD:DP:GQ:PL	1/1:0,57:57:99:2129,172,0	18	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1139.66	111	chrX	135580144	.	G	C	1139.66	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.835;DP=1343;ExcessHet=31.086;FS=227.944;InbreedingCoeff=-0.8004;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.257;SOR=12.389	GT:AD:DP:GQ:PL	0/1:19,18:37:94:94,0,396	2	0	17	0
chrX	154928659	154928659	G	T	exonic	F8	.	nonsynonymous SNV	F8:NM_000132:exon14:c.C5131A:p.Q1711K	Hemophilia A, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.580312381874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.184e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.015	0.61642	D	0.89	0.48942	P	0.402	0.44547	B	0.087023	0.20555	N	0.525914	0.526319	0.31527	N	2.11	0.58565	M	-5.19	0.98838	D	-2.11	0.48020	N	0.254	0.28732	0.894	0.95585	D	0.891	0.96375	D	10	0.4315882	0.57526	T	0.580312	0.96237	D	0.417	0.72705	0.325	0.30711	0.909904499923	0.90900	0.599139701443422	0.59844	0.0576120744431	0.06381	0.435637295246	0.29980	T	0.466501	0.80122	T	0.0217563	0.54619	T	-0.206525	0.54027	T	0.476094104983387	0.31754	T	0.750425	0.37198	T	0.4894178	0.66468	0.28348273	0.54341	0.4894178	0.66469	0.28348273	0.54340	-4.423	0.29867	T	0.3898220600648977	0.48314	0.111	0.21466	B	.	.	2.782803	0.36562	20.3	0.99445289241789481	0.64971	0.62169	0.31701	D	AEFBI	.	.	.	.	.	.	.	.	.	1.41832043686386E-4	0.05573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.01	3.05	0.34272	1.386000	0.34025	5.577000	0.48958	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.587:0.413	8.686	0.33402	91	0.96221	.	.	.	.	.	.	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	0.000688	0.000000	0.000000	0.000000	0.071429	0.000000	0.000000	0.000000	0.1	530.74	315	chrX	154928659	.	G	T	530.74	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-4.562;DP=2372;ExcessHet=0.3672;FS=183.52;InbreedingCoeff=-0.1523;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=4.08;SOR=11.059	GT:AD:DP:GQ:PL	0/1:104,30:134:20:20,0,2210	12	0	3	4
chrY	19706182	19706182	C	T	exonic	KDM5D	.	nonsynonymous SNV	KDM5D:NM_001146706:exon26:c.G4262A:p.R1421Q,KDM5D:NM_004653:exon27:c.G4433A:p.R1478Q,KDM5D:NM_001146705:exon28:c.G4526A:p.R1509Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.00243309	0.0010	0.0165	0	0	0	0.0001	0	0	0.0003299	51	154602	rs35681523	0.0003	0.0003	.	0.0003	0.0131	0.0003	0.0003	0.0110	0.0102	0.0131	0.0008	0	0	0	0.0006	1.868e-05	0.0013	6.38e-05	0.0030	0.0035	.	0.0030	0.0105	0.0025	0.0024	0.0087	0.0080	0.0105	0	0.0028	0	0	0	0	7.579e-05	0.0023	0	1.0	0.04469	T	0.517	0.12211	T	0.0	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.975	0.01213	N	-1.94	0.85875	D	0.12	0.06369	N	0.071	0.09490	.	.	.	.	.	.	.	0.0043544173	0.00088	T	.	.	.	.	.	.	.	0.566846708062	0.56349	0.01269385037655379	0.01228	.	.	.	.	.	0.006499	0.05931	T	-0.529782	0.00385	T	-0.523383	0.19953	T	.	.	.	0.465553	0.13627	T	0.05623664	0.11037	0.10114657	0.24205	0.05623664	0.11036	0.10114657	0.24204	-3.023	0.10431	T	.	.	0.063	0.02313	B	.;.;.;.	.;.;.;.	0.431896	0.08022	4.741	0.16441880935360864	0.00441	0.00012	0.00170	N	AEFB	.	.	.	.	.	.	.	.	.	0.999663067905132	0.41534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	-0.979	0.09751	0.414000	0.20885	.	.	-1.057000	0.01625	0.004000	0.16614	0.006000	0.19429	0.005000	0.06747	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	12403.8	.	chrY	19706182	.	C	T	12403.8	.	AC=2;AF=0.1;AN=20;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=3;MLEAF=0.15;MQ=60;QD=32.39;SOR=0.698	GT:AD:DP:GQ:PL	1/1:0,383:383:99:12421,1149,0	9	1	0	9